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26 Feb 2026	Fetal anomalies v6.140	CELSR3	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are sufficient number of patients reported with biallelic variants and CNS anomalies/ CAKUT. However, previous review suggests that the disease association is not convincing. Hence, expert review is sought on whether this gene can be promoted to green rating on this panel.
26 Feb 2026	Fetal anomalies v6.139	CELSR3	Achchuthan Shanmugasundram Phenotypes for gene: CELSR3 were changed from Neurodevelopmental disorder, MONDO:0700092, CELSR3-related to neurodevelopmental disorder, MONDO:0700092; congenital anomaly of kidney and urinary tract, MONDO:0019719
26 Feb 2026	Fetal anomalies v6.138	CELSR3	Achchuthan Shanmugasundram edited their review of gene: CELSR3: Added comment: PMID:38429302 (2024) reported the identification of biallelic variants in CELSR3 gene in 12 individuals from 11 unrelated families. Six of 12 patients presented with homozygous missense and five with compound heterozygous missense CELSR3 variants, while one individual carried a heterozygous missense variant and an in-frame-deletion in trans. Affected individuals presented with an overlapping phenotypic spectrum comprising central nervous system (CNS) anomalies (7/12), combined CNS anomalies and congenital anomalies of the kidneys and urinary tract (CAKUT) (3/12) and CAKUT only (2/12). There is also functional evidence available from zebrafish, where transient suppression of CELSR3 ortholog Celsr3 leads to anomalies in the developing CNS and urinary system. This gene has not yet been associated with relevant phenotypes in OMIM (last accessed 26 February 2026) or ClinGen, but biallelic CELSR3 variants have been associated with 'limited' rating on the DD panel of Gene2Phenotype. This gene is also rated green on the Fetal anomalies panel of PanelApp Australia.; Changed rating: GREEN; Changed publications to: 38429302; Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, congenital anomaly of kidney and urinary tract, MONDO:0019719; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
21 Jan 2026	Fetal anomalies v6.135	CYP11A1	Ida Ertmanska reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11502818, 29995203, 30620006, 35418949, 39457196; Phenotypes: Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM: 613743, Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency, MONDO:0013400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
02 Jan 2026	Fetal anomalies v6.135	SNAPIN	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four foetuses from three unrelated families reported with biallelic SNAPIN variants and with neuroanatomical, craniofacial, and skeletal anomalies on prenatal ultrasound/MRI. Hence, this gene can be promoted to green rating in the next GMS update.
02 Jan 2026	Fetal anomalies v6.133	SNAPIN	Achchuthan Shanmugasundram gene: SNAPIN was added gene: SNAPIN was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SNAPIN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNAPIN were set to 40930097 Phenotypes for gene: SNAPIN were set to Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, OMIM:621393 Review for gene: SNAPIN was set to GREEN Added comment: PMID:40930097 (2025) reported six patients from five unrelated families presenting with neuroanatomical, craniofacial, and skeletal anomalies and were identified with homozygous variants in SNAPIN gene. This included four foetuses from three unrelated families (had nonsense or splice site variants - c.91G>T/ p.Glu31Ter, c.144−1G>A & c.112C>T/ p.Gln38Ter) and two unrelated patients aged eight years old and one year old (had missense variants - c.147G>C/ p.Glu49Asp & c.163C>T/ p.Arg55Trp). One of the foetuses had intrauterine demise at 26 weeks' gestation, and the other 3 pregnancies ended in termination. Brain abnormalities in the patients included ventriculomegaly (5/6), cerebellar hypoplasia/ atrophy (5/6) and corpus callosum agenesis (4/6). The other phenotypes included clubfeet (4/6), flexion contractures (4/6), microcephaly (3/6) and micrognathia/retrognathia (4/6). Functional evidence is also available from zebrafish gene ablation models, which recapitulated human-relevant disease phenotypes. This gene has been associated with relevant phenotype in OMIM (MIM #621393, last accessed on 02 January 2026), but not yet in Gene2Phenotype or ClinGen. Sources: Literature
02 Jan 2026	Fetal anomalies v6.132	WSB2	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated patients reported with either IUGR or Oligohydramnios. Hence, this gene can be promoted to green rating in the next GMS update.
02 Jan 2026	Fetal anomalies v6.131	WSB2	Achchuthan Shanmugasundram gene: WSB2 was added gene: WSB2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: WSB2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WSB2 were set to 40374945 Phenotypes for gene: WSB2 were set to neurodevelopmental disorder, MONDO:0700092 Review for gene: WSB2 was set to GREEN Added comment: PMID:40374945 reported five patients from four unrelated families with developmental delays, brain anomalies, and dysmorphic features with or without intrauterine growth restriction (IUGR) and hypotonia. They were all identified with homozygous predicted loss-of-function (pLoF) or missense variants in WSB2 gene (c.128G>A/ p.Trp43Ter, p.Gln134ArgfsTer14, c.1121G>A/ p.Arg374Gln & c.1187_1188delAA/ p.Lys396ArgfsTer19) inherited from asymptomatic consanguineous parents. Intrauterine growth restriction (IUGR) was reported in two unrelated patients and Oligohydramnios was reported in a different unrelated patient. There is also functional evidence available from Wsb2-mutant mice, which exhibited several neurological findings that included hyperactivity, altered exploration, and hyper alertness. They also weighed less, had a lower heart rate, and presented an abnormal retinal blood vessel morphology and vasculature pattern along with decreased total thickness of the retina. This gene has not been associated with relevant phenotypes either in OMIM, Gene2Phenotype or ClinGen. Sources: Literature
02 Jan 2026	Fetal anomalies v6.130	MIA3	Arina Puzriakova changed review comment from: Comment on phenotypes: OMIM phenotype (Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269) accessed on 16 Dec 2025; to: Comment on phenotypes: OMIM phenotype (?Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269) accessed on 16 Dec 2025
02 Jan 2026	Fetal anomalies v6.130	MIA3	Arina Puzriakova Added comment: Comment on phenotypes: OMIM phenotype (Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269) accessed on 16 Dec 2025
02 Jan 2026	Fetal anomalies v6.130	MIA3	Arina Puzriakova Phenotypes for gene: MIA3 were changed from Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269 to ?Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269
31 Dec 2025	Fetal anomalies v6.129	TSEN34	Ida Ertmanska commented on gene: TSEN34: Comment on list classification: There is one patient reported in literature with a biallelic variant in TSEN34 and Pontocerebellar hypoplasia type 2. While TSEN34 shares a biochemical function with other genes known to cause Pontocerebellar hypoplasia type 2, the clinical evidence for this gene-disease association is lacking in literature. Hence, TSEN34 should be demoted to Amber for Ataxia and cerebellar anomalies - narrow panel, until more evidence emerges.
31 Dec 2025	Fetal anomalies v6.129	TSEN34	Ida Ertmanska reviewed gene: TSEN34: Rating: AMBER; Mode of pathogenicity: None; Publications: 20952379, 27370523, 32476018, 37544645; Phenotypes: Pontocerebellar hypoplasia type 2C, OMIM:612390, pontocerebellar hypoplasia type 2C, MONDO:0012891; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Dec 2025	Fetal anomalies v6.128	PAN2	Achchuthan Shanmugasundram Phenotypes for gene: PAN2 were changed from syndromic disease MONDO:0002254 to Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies, OMIM:621384
18 Dec 2025	Fetal anomalies v6.127	AMOTL1	Achchuthan Shanmugasundram Phenotypes for gene: AMOTL1 were changed from Orofacial clefting syndrome, MONDO:0015335, AMOTL1-related to Craniofaciocardiohepatic syndrome, OMIM:621192; craniofaciocardiohepatic syndrome, MONDO:0978295
18 Dec 2025	Fetal anomalies v6.125	TBC1D32	Achchuthan Shanmugasundram Phenotypes for gene: TBC1D32 were changed from Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795 to Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795; Alsahan-Harris syndrome, OMIM:621307; Alsahan-Harris syndrome, MONDO:0979871
17 Dec 2025	Fetal anomalies v6.123	PAICS	Arina Puzriakova Added comment: Comment on phenotypes: OMIM phenotype (Phosphoribosylaminoimidazole carboxylase deficiency, OMIM:619859) accessed on 17-12-2025
17 Dec 2025	Fetal anomalies v6.123	PAICS	Arina Puzriakova Phenotypes for gene: PAICS were changed from Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426; Polyhydramnios; multiple congenital abnormalities; early neonatal death to Phosphoribosylaminoimidazole carboxylase deficiency, OMIM:619859; Polyhydramnios; multiple congenital abnormalities; early neonatal death
16 Dec 2025	Fetal anomalies v6.121	MIA3	Arina Puzriakova commented on gene: MIA3: Another fetal case - PMID: 40130161 (2025) - Homozygous c.2768T>G, p.(Leu923*) was detected in a fetus from a Slovenian family who presented with short bones of extremities (7 percentile), fibular aplasia, bilateral radial aplasia, tibial aplasia, hypoplastic nasal bone, delayed ossification, and congenital contractures.
16 Dec 2025	Fetal anomalies v6.121	MIA3	Arina Puzriakova Phenotypes for gene: MIA3 were changed from Ondontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269 to Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269
12 Dec 2025	Fetal anomalies v6.120	ARL6IP1	Achchuthan Shanmugasundram Tag Q3_24_NHS_review was removed from gene: ARL6IP1. Tag Q3_25_promote_green was removed from gene: ARL6IP1.
12 Dec 2025	Fetal anomalies v6.120	ARL2BP	Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: ARL2BP. Tag Q3_25_NHS_review was removed from gene: ARL2BP.
12 Dec 2025	Fetal anomalies v6.120	PDE12	Achchuthan Shanmugasundram edited their review of gene: PDE12: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. The GMS reviewers commented as follows: The concern from the panel for this one is that the two prenatal presentations are very different. There is no link between brain anomalies and hydrops. The panel want to see more evidence that the gene is causing a prenatal pehnotype and there is not another cuase of these abnormalities in these families.; Changed rating: AMBER
12 Dec 2025	Fetal anomalies v6.120	ARL6IP1	Achchuthan Shanmugasundram reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
12 Dec 2025	Fetal anomalies v6.120	ARL2BP	Achchuthan Shanmugasundram reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
12 Dec 2025	Fetal anomalies v6.119	ARL6IP1	Arina Puzriakova Source Expert Review Green was added to ARL6IP1. Source NHS GMS was added to ARL6IP1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
12 Dec 2025	Fetal anomalies v6.119	ARL2BP	Arina Puzriakova Source Expert Review Green was added to ARL2BP. Source NHS GMS was added to ARL2BP. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
29 Oct 2025	Fetal anomalies v6.115	KIAA0556	Arina Puzriakova Added comment: Comment on list classification: Upgrading from Red to Amber and tagging for additional GMS expert review to determine whether there is sufficient evidence to indicate that the phenotype is prenatally relevant. The main finding that may plausibly be detected prenatally is cerebellar hypoplasia / molar tooth sign. Other possible fetal scan findings include: PMIDs 26714646 and 32164589 each reference one case with cleft lip and palate (although the latter had dual molecular findings) and PMID 40428346 had post-axial polydactyly. Although molar-tooth sign was present in a number of cases, there is no indication that prenatal abnormalities were detected in published cases.
28 Oct 2025	Fetal anomalies v6.112	DISP1	Ida Ertmanska changed review comment from: There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1. Among fetal cases, there are only 2 biallelic cases with DISP1 variants alone. Other individuals harboured biallelic variants in DISP1, as well as potentially pathogenic variants in other genes. Digenic inheritance appears to be common for this condition. PMID: 38529886 Lavillaureix et al., 2024 25 individuals with midline craniofacial defects, harbouring 23 DISP1 variants identified in heterozygous, compound heterozygous or homozygous states. Sequencing method: WES. The patients presented with holoprosencephaly of variable severity: microform (14/25), lobar (2/25), semi-alobar (2/25), and alobar (7/25). 9/25 individuals were fetuses with antenatal signs of failure of the prosencephalon to divide. As 5/9 patients with severe (alobar or semi-lobar) HPE had DISP1 variants as well as variants in other known HPE-linked genes from the SHH pathway (eg, SIX3, SHH, and PTCH1), the authors suggest oligogenic inheritance. Milder presentations (microform and lobar generally seem to arise either from monoallelic truncating variants, or biallelic missense variants in DISP1. This gene is associated with AR/AD Holoprosencephaly 10, 621143 in OMIM (accessed 17th Oct 2025).; to: PMID: 38529886 Lavillaureix et al., 2024 25 individuals with midline craniofacial defects, harbouring 23 DISP1 variants identified in heterozygous, compound heterozygous or homozygous states. Sequencing method: WES. The patients presented with holoprosencephaly of variable severity: microform (14/25), lobar (2/25), semi-alobar (2/25), and alobar (7/25). 9/25 individuals were fetuses with antenatal signs of failure of the prosencephalon to divide. As 5/9 patients with severe (alobar or semi-lobar) HPE had DISP1 variants as well as variants in other known HPE-linked genes from the SHH pathway (eg, SIX3, SHH, and PTCH1), the authors suggest oligogenic inheritance. Milder presentations (microform and lobar generally seem to arise either from monoallelic truncating variants, or biallelic missense variants in DISP1. This gene is associated with AR/AD Holoprosencephaly 10, 621143 in OMIM (accessed 17th Oct 2025).
28 Oct 2025	Fetal anomalies v6.112	DISP1	Ida Ertmanska commented on gene: DISP1: Comment on mode of inheritance: There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1. Among fetal cases, there are only 2 biallelic cases with DISP1 variants alone. Other individuals harboured biallelic variants in DISP1, as well as potentially pathogenic variants in other genes. Digenic inheritance appears to be common for this condition. Gene tagged for expert review to decide the appropriate MOI.
27 Oct 2025	Fetal anomalies v6.112	DISP1	Ida Ertmanska changed review comment from: MOI should be set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1. PMID: 38529886 Lavillaureix et al., 2024 25 individuals with midline craniofacial defects, harbouring 23 DISP1 variants identified in heterozygous, compound heterozygous or homozygous states. Sequencing method: WES. The patients presented with holoprosencephaly of variable severity: microform (14/25), lobar (2/25), semi-alobar (2/25), and alobar (7/25). 9/25 individuals were fetuses with antenatal signs of failure of the prosencephalon to divide. As 5/9 patients with severe (alobar or semi-lobar) HPE had DISP1 variants as well as variants in other known HPE-linked genes from the SHH pathway (eg, SIX3, SHH, and PTCH1), the authors suggest oligogenic inheritance. Milder presentations (microform and lobar generally seem to arise either from monoallelic truncating variants, or biallelic missense variants in DISP1. This gene is associated with AR/AD Holoprosencephaly 10, 621143 in OMIM (accessed 17th Oct 2025).; to: There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1. Among fetal cases, there are only 2 biallelic cases with DISP1 variants alone. Other individuals harboured biallelic variants in DISP1, as well as potentially pathogenic variants in other genes. Digenic inheritance appears to be common for this condition. PMID: 38529886 Lavillaureix et al., 2024 25 individuals with midline craniofacial defects, harbouring 23 DISP1 variants identified in heterozygous, compound heterozygous or homozygous states. Sequencing method: WES. The patients presented with holoprosencephaly of variable severity: microform (14/25), lobar (2/25), semi-alobar (2/25), and alobar (7/25). 9/25 individuals were fetuses with antenatal signs of failure of the prosencephalon to divide. As 5/9 patients with severe (alobar or semi-lobar) HPE had DISP1 variants as well as variants in other known HPE-linked genes from the SHH pathway (eg, SIX3, SHH, and PTCH1), the authors suggest oligogenic inheritance. Milder presentations (microform and lobar generally seem to arise either from monoallelic truncating variants, or biallelic missense variants in DISP1. This gene is associated with AR/AD Holoprosencephaly 10, 621143 in OMIM (accessed 17th Oct 2025).
23 Oct 2025	Fetal anomalies v6.112	LAMC3	Achchuthan Shanmugasundram changed review comment from: There are seven unrelated families reported with biallelic variants (either homozygous or compound heterozygous) in LAMC3 and cortical malformations. One these cases was a foetus reported with extensive posterior Periventricular nodular heterotopia (PMID:33639934). In addition, PMID:30266093 (2018) reported a foetus with abnormalities identified via ultrasound and with compound heterozygous LAMC3 variants Biallelic LAMC3 variants are associated with relevant phenotypes in OMIM (MIM #614115, record accessed on 21 October 2025) and Gene2Phenotype (with 'definitive' rating on the DD panel). This gene is also green with biallelic MOI on the Fetal anomalies panel of PanelApp Australia (https://panelapp-aus.org/panels/3763/gene/LAMC3/). Biallelic LAMC3 variants are not yet associated with any relevant phenotypes in ClinGen. Monoallelic LAMC3 variants are associated with 'complex neurodevelopmental disorder' (MONDO:0100038) with 'Disputed' rating by the Intellectual Disability and Autism expert panel in ClinGen (https://search.clinicalgenome.org/CCID:005265) This was based on the following evidence: Although over 25 unique variants have been reported in humans, autism spectrum disorder was the primary ascertainment for the largest number of individuals. Variants have also been reported in probands with intellectual disability and/or developmental delay. However, the variants were primarily identified in individuals with limited phenotype data from large cohort studies, and none had experimental evidence of gene impact (PMIDs: 21572417, 23160955, 27525107, 28191889, 28965761, 30564305, 31398340). This gene should therefore remain green with Biallelic MOI on this panel.; to: There are seven unrelated families reported with biallelic variants (either homozygous or compound heterozygous) in LAMC3 and cortical malformations. One these cases was a foetus reported with extensive posterior Periventricular nodular heterotopia (PMID:33639934). In addition, PMID:30266093 (2018) reported a foetus with abnormalities identified via ultrasound and with compound heterozygous LAMC3 variants Biallelic LAMC3 variants are associated with relevant phenotypes in OMIM (MIM #614115, record accessed on 21 October 2025) and Gene2Phenotype (with 'definitive' rating on the DD panel). This gene is also green with biallelic MOI on the Fetal anomalies panel of PanelApp Australia (https://panelapp-aus.org/panels/3763/gene/LAMC3/). Biallelic LAMC3 variants are not yet associated with any relevant phenotypes in ClinGen. Monoallelic LAMC3 variants are associated with 'complex neurodevelopmental disorder' (MONDO:0100038) with 'Disputed' rating by the Intellectual Disability and Autism expert panel in ClinGen (https://search.clinicalgenome.org/CCID:005265) This was based on the following evidence: Although over 25 unique variants have been reported in humans, autism spectrum disorder was the primary ascertainment for the largest number of individuals. Variants have also been reported in probands with intellectual disability and/or developmental delay. However, the variants were primarily identified in individuals with limited phenotype data from large cohort studies, and none had experimental evidence of gene impact (PMIDs: 21572417, 23160955, 27525107, 28191889, 28965761, 30564305, 31398340).
23 Oct 2025	Fetal anomalies v6.112	LAMC3	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: The 'Disputed' rating on ClinGen is only relevant for monoallelic MOI. As there is sufficient evidence available for the association of biallelic variants with the phenotype, this gene should remain green on this panel with biallelic MOI.; to: Comment on list classification: The 'Disputed' rating on ClinGen is only relevant for monoallelic MOI. As there is sufficient evidence available for the association of biallelic variants with the phenotype, this gene should remain green with biallelic MOI on this panel.
23 Oct 2025	Fetal anomalies v6.112	LAMC3	Achchuthan Shanmugasundram Added comment: Comment on list classification: The 'Disputed' rating on ClinGen is only relevant for monoallelic MOI. As there is sufficient evidence available for the association of biallelic variants with the phenotype, this gene should remain green on this panel with biallelic MOI.
22 Oct 2025	Fetal anomalies v6.111	CDK5	Eleanor Williams Phenotypes for gene: CDK5 were changed from Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342 to Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342; lissencephaly 7 with cerebellar hypoplasia, MONDO:0014596
21 Oct 2025	Fetal anomalies v6.105	PTBP1	Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update based on 27 individuals from 25 families identified in PMID: 40965981 with start-loss (89%) or missense (11%) variants, confirmed de novo in 23/27 (plus 2 sibs with variant inherited from symptomatic mother, and segregation data unavailable in 2 others). Skeletal anomalies were seen in 24 (89%), with the most prominent abnormalities comprising shortening and dysplasia of long bones and phalanges. Radiographic features included brachymetacarpia, brachymetatarsia, brachydactyly, brachytelephalangy, brachymesophalangy, and rhizomelia. Advanced bone maturation, cone-shaped epiphyses, and other features such as vertebral dysplasia were also observed.; to: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update based on 27 individuals from 25 families identified in PMID: 40965981 with start-loss (89%) or missense (11%) variants, confirmed de novo in 23/27 (plus 2 sibs with variant inherited from symptomatic mother, and segregation data unavailable in 2 others). Prenatal ultrasound was abnormal in thirteen (48%), revealing short femora (5/13, 38%), IUGR (31%), hydramnios (2/13, 15%), increased nuchal translucency (15%), asymmetry of heart cavities (1/13, 8%), and bilateral hydronephrosis (8%). It led to the diagnosis of skeletal dysplasia in two.
20 Oct 2025	Fetal anomalies v6.104	RBFOX2	Arina Puzriakova Phenotypes for gene: RBFOX2 were changed from Congenital heart disease, MONDO:0005453 to Congenital heart disease, MONDO:0005453; hypoplastic left heart syndrome, MONDO:0004933
20 Oct 2025	Fetal anomalies v6.103	PLD1	Arina Puzriakova commented on gene: PLD1: This gene was previously downgraded from Green to Amber following review by Jesse Hayesmoore highlighting the presence of homozygotes in population databases, including some patient variants. However, additional cases have continued to be published albeit often with limited information and no extensive functional studies. This gene-condition has been reviewed by multiple resources including: - ClinGen: definitive (classified on 12-02-2024) - https://search.clinicalgenome.org/CCID:008897 - G2P: definitive (classified on 19-02-2025) - https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03704 - PanelApp Australia: green on multiple panels - https://panelapp-aus.org/panels/entities/PLD1 - OMIM (last updated on 30-09-2022) - https://www.omim.org/entry/212093 Given the classification on Genomics England PanelApp currently conflicts with multiple other resources, this gene will be flagged for additional expert review during the next GMS panel release.
20 Oct 2025	Fetal anomalies v6.102	PLD1	Arina Puzriakova Added comment: Comment on phenotypes: Updated OMIM:212093 phenotype from 'Cardiac valvular defect, developmental' to 'Cardiac valvular dysplasia 1' (accessed on 20-10-2025)
20 Oct 2025	Fetal anomalies v6.102	PLD1	Arina Puzriakova Phenotypes for gene: PLD1 were changed from Cardiac valvular defect, developmental, OMIM:212093; Cardiomyopathy; Congenital heart malformations to Cardiac valvular dysplasia 1, OMIM:212093; Congenital heart malformations
20 Oct 2025	Fetal anomalies v6.101	PLD1	Arina Puzriakova edited their review of gene: PLD1: Added comment: Additional cases reported (not reviewed previously): - PMID: 38171566 - based on the abstract (translated from Chinese, full-text not available) a fetus with generalized edema, complex cardiac malformation, abdominal effusion, and enhanced intestinal and renal parenchymal echoes was identified with compound heterozygous variants (c.1460G>A (p.W487); c.2977C>T (p.R993)) in the PLD1 gene. No functional studies mentioned. - PMID: 39553471 - a fetus with compound heterozygous variants (c.1937G>C (p.G646A); c.1062-59A>G) was found with congenital heart disease including pulmonary atresia, regurgitation and tricuspid valve dysplasia. In silico analysis of c.1062-59A>G indicated the variant affected splicing, and subsequent RT-PCR and TA clone sequencing revealed a 76-bp intron retention and skipping of exon 11, causing a frameshift and premature stop codon in PLD1. Both variants were classified as VUS according to ACMG guidelines. - PMID: 39681445 - title 'A case of cardiac valvular dysplasia combined with dilated cardiomyopathy caused by a homozygous nonsense variant in PLD1' indicates there is another case of cardiomyopathy linked to this gene. However, the article and abstract are in Chinese and therefore cannot be curated further.; Changed publications to: 27799408, 33142350, 33645542, 35380090, 36923242, 37770978, 38171566, 39553471, 39681445; Changed phenotypes to: Cardiac valvular dysplasia 1, OMIM:212093; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Oct 2025	Fetal anomalies v6.101	DISP1	Ida Ertmanska changed review comment from: MOI should be set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1. PMID: 38529886 Lavillaureix et al., 2024 25 individuals with midline craniofacial defects, harbouring 23 DISP1 variants identified in heterozygous, compound heterozygous or homozygous states. Sequencing method: WES. The patients presented with holoprosencephaly of variable severity: microform (14/25), lobar (2/25), semi-alobar (2/25), and alobar (7/25). As 5/9 patients with severe (alobar or semi-lobar) HPE had DISP1 variants as well as variants in other known HPE-linked genes from the SHH pathway (eg, SIX3, SHH, and PTCH1), the authors suggest oligogenic inheritance. Milder presentations (microform and lobar generally seem to arise either from monoallelic truncating variants, or biallelic missense variants in DISP1. This gene is associated with AR/AD Holoprosencephaly 10, 621143 in OMIM (accessed 17th Oct 2025).; to: MOI should be set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1. PMID: 38529886 Lavillaureix et al., 2024 25 individuals with midline craniofacial defects, harbouring 23 DISP1 variants identified in heterozygous, compound heterozygous or homozygous states. Sequencing method: WES. The patients presented with holoprosencephaly of variable severity: microform (14/25), lobar (2/25), semi-alobar (2/25), and alobar (7/25). 9/25 individuals were fetuses with antenatal signs of failure of the prosencephalon to divide. As 5/9 patients with severe (alobar or semi-lobar) HPE had DISP1 variants as well as variants in other known HPE-linked genes from the SHH pathway (eg, SIX3, SHH, and PTCH1), the authors suggest oligogenic inheritance. Milder presentations (microform and lobar generally seem to arise either from monoallelic truncating variants, or biallelic missense variants in DISP1. This gene is associated with AR/AD Holoprosencephaly 10, 621143 in OMIM (accessed 17th Oct 2025).
16 Oct 2025	Fetal anomalies v6.101	LINC01082	Ida Ertmanska edited their review of gene: LINC01082: Changed phenotypes to: Alveolar capillary dysplasia with misalignment of pulmonary veins
16 Oct 2025	Fetal anomalies v6.101	LINC01081	Ida Ertmanska edited their review of gene: LINC01081: Changed phenotypes to: Alveolar capillary dysplasia with misalignment of pulmonary veins
15 Oct 2025	Fetal anomalies v6.97	LINC01082	Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409) - with LINC01082 and FOXF1 being intact. At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622). Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. According to PMID:36157490 Szafranski et al., 2022, 50 reported de novo CNV deletions arose on the maternal chromosome 16 and only 3 de novo CNV deletions arose on the paternal chromosome 16. PMID: 40869921 Fumini et al., 2025 Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward. This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. According to PMID:36157490 Szafranski et al., 2022, 50 reported de novo CNV deletions arose on the maternal chromosome 16 and only 3 de novo CNV deletions arose on the paternal chromosome 16. There is only 1 individual with ACDMPV where only LINC01082 has been deleted, without affecting FOXF1 or LINC01081 (PMID: 24842713). At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622). PMID: 40869921 Fumini et al., 2025 Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward. This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
15 Oct 2025	Fetal anomalies v6.97	LINC01082	Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. According to PMID:36157490 Szafranski et al., 2022, 50 reported de novo CNV deletions arose on the maternal chromosome 16 and only 3 de novo CNV deletions arose on the paternal chromosome 16. PMID: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact. Genomic positions reference (GRh37/hg19): FOXF1 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted. PMID: 19500772 Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. PMID: 23034409 Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted PMID: 24842713 Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409) - with LINC01082 and FOXF1 being intact. At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622). Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. According to PMID:36157490 Szafranski et al., 2022, 50 reported de novo CNV deletions arose on the maternal chromosome 16 and only 3 de novo CNV deletions arose on the paternal chromosome 16. PMID: 40869921 Fumini et al., 2025 Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward. This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
15 Oct 2025	Fetal anomalies v6.97	LINC01082	Ida Ertmanska commented on gene: LINC01082: Comment on list classification: Genes in the FOXF1 enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). There is only 1 individual with ACDMPV where only LINC01082 has been deleted, without affecting FOXF1 or LINC01081 (PMID: 24842713). At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622). Hence, the testing region should be expanded to include the enhancer. The majority of CNVs arose de novo on the maternal allele - suspected imprinting of paternal allele. Based on the available evidence, this gene should be rated GREEN for Alveolar capillary dysplasia with misalignment of pulmonary veins.
15 Oct 2025	Fetal anomalies v6.97	LINC01082	Ida Ertmanska reviewed gene: LINC01082: Rating: GREEN; Mode of pathogenicity: None; Publications: 19500772, 23034409, 24842713, 27071622; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins, OMIM:265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
15 Oct 2025	Fetal anomalies v6.97	LINC01081	Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409) - with LINC01082 and FOXF1 being intact. At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622). Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. PMID: 40869921 Fumini et al., 2025 Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward. This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409) - with LINC01082 and FOXF1 being intact. At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622). Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. According to PMID:36157490 Szafranski et al., 2022, 50 reported de novo CNV deletions arose on the maternal chromosome 16 and only 3 de novo CNV deletions arose on the paternal chromosome 16. PMID: 40869921 Fumini et al., 2025 Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward. This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
15 Oct 2025	Fetal anomalies v6.97	LINC01081	Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409). At least 10 other patients harboured a deletion that affected the FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622). Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. PMID: 40869921 Fumini et al., 2025 Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward. This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409) - with LINC01082 and FOXF1 being intact. At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622). Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. PMID: 40869921 Fumini et al., 2025 Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward. This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
15 Oct 2025	Fetal anomalies v6.97	LINC01081	Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. PMID: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact. FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted. PMID: 19500772 Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. PMID: 23034409 Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted PMID: 24842713 Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409). At least 10 other patients harboured a deletion that affected the FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622). Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. PMID: 40869921 Fumini et al., 2025 Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward. This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
15 Oct 2025	Fetal anomalies v6.97	LINC01081	Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. PMID: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact. FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted. PMID: 19500772 Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. PMID: 23034409 Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted PMID: 24842713 Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. PMID: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact. FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted. PMID: 19500772 Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. PMID: 23034409 Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted PMID: 24842713 Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
15 Oct 2025	Fetal anomalies v6.97	LINC01081	Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. PMID: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact. FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted. PMID: 19500772 Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. PMID: 23034409 Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted PMID: 24842713 Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. PMID: 27071622 Szafranski et al., 2016 22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact. FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028. LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313 LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637 Enhancer only deletions, from supplementary information: P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted. PMID: 19500772 Stankiewicz et al. (2009) P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae. PMID: 23034409 Szafranski et al. (2013a) Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted). P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted PMID: 24842713 Szafranski et al. (2014) P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream) P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
15 Oct 2025	Fetal anomalies v6.97	LINC01081	Ida Ertmanska reviewed gene: LINC01081: Rating: GREEN; Mode of pathogenicity: None; Publications: 19500772, 23034409, 24842713, 27071622; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins, OMIM:265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
10 Oct 2025	Fetal anomalies v6.97	RASA1	Achchuthan Shanmugasundram Phenotypes for gene: RASA1 were changed from PARKES WEBER SYNDROME; CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION to Capillary malformation-arteriovenous malformation 1, OMIM:608354; capillary malformation-arteriovenous malformation 1, MONDO:0020783
09 Oct 2025	Fetal anomalies v6.96	SLC46A1	Arina Puzriakova Phenotypes for gene: SLC46A1 were changed from HEREDITARY FOLATE MALABSORPTION to Folate malabsorption, hereditary, OMIM:229050
02 Oct 2025	Fetal anomalies v6.92	DST	Eleanor Williams Phenotypes for gene: DST were changed from Arthrogryposis multiplex congenita to Arthrogryposis multiplex congenita, MONDO:0015168; arthrogryposis, MONDO:0859248; cardiomyopathy, MONDO:0004994; congenital myopathy, MONDO:0019952
02 Oct 2025	Fetal anomalies v6.90	DST	Eleanor Williams reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: None; Publications: 40497796, 35942699; Phenotypes: arthrogryposis, MONDO:0859248, cardiomyopathy, MONDO:0004994, congenital myopathy, MONDO:0019952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Oct 2025	Fetal anomalies v6.90	EMX2	Ida Ertmanska commented on gene: EMX2: Comment on list classification: There are at least 4 unrelated families where individuals harbouring de novo variants in EMX2 have schizencephaly - a rare severe brain malformation, leading to neurologic deficits and developmental delay (PMIDs: 8528262, 9153481, 9359037). However, the 1996-1997 studies are limited by their sequencing method (targeted gene sequencing). Subsequent studies of 3 different schizencephaly patient cohorts showed that none of the 175 affected individuals carried pathogenic EMX2 mutations (PMIDs: 17506092, 18409201, 20157829). No other schizencephaly cases with EMX2 variants were published in literature since 1997. Other genes, such as SIX3 and SHH, have been putatively linked to schizencephaly (PMID: 20157829). Furthermore, schizencephaly may stem from non-genetic causes, such as in utero viral infections, teratogen exposure, maternal trauma, and more (PMID: 18409201). Due to outdated / conflicting evidence, this gene should be downgraded to Amber for Fetal anomalies.
30 Sep 2025	Fetal anomalies v6.87	VSX2	Arina Puzriakova Phenotypes for gene: VSX2 were changed from MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES; MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 3; MICROPHTHALMIA ISOLATED TYPE 2 to Microphthalmia, isolated 2, OMIM:610093; Microphthalmia/coloboma 3, OMIM:610092
26 Sep 2025	Fetal anomalies v6.86	PDE12	Arina Puzriakova commented on gene: PDE12: Maintaining Amber rating following further consultation with the expert group - The concern is that the two prenatal presentations are very different. There is no link between brain anomalies and hydrops. The panel want to see more evidence that the gene is causing a prenatal phenotype and there is not another cause of these abnormalities in these families.
26 Sep 2025	Fetal anomalies v6.86	NDUFB7	Arina Puzriakova Phenotypes for gene: NDUFB7 were changed from Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135; Mitochondrial complex I deficiency, nuclear type 39 to Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135
26 Sep 2025	Fetal anomalies v6.85	FLII	Arina Puzriakova commented on gene: FLII: Maintaining as Amber following further consultation with the expert group - this gene causes isolated cardiac anomalies which is not an indication for R21 fetal anomaly testing. However, we do want to monitor in case of new reports where it is not isolated.
08 Sep 2025	Fetal anomalies v6.82	FLII	Arina Puzriakova changed review comment from: New gene added to this panel with an Amber rating, inline with the recent review by the R21 Clinical Oversight Group.; to: New gene added to this panel with an Amber rating, inline with the recent review by the R21 Clinical Oversight Group. However, tagging for additional review as this rating contradicts the review comment "Sufficient evidence for gene-disease association and may present prenatally with structural heart defects in some cases" and this gene is tagged for promotion to Green on the R135 Paediatric or syndromic cardiomyopathy panel.
08 Sep 2025	Fetal anomalies v6.82	PDE12	Arina Puzriakova changed review comment from: Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group.; to: Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group. However, tagging for additional expert review to resolve conflicting reviews - first reviewed as Green by Achchuthan Shanmugasundram but then as Amber by Alice Gardham based on the same evidence.
08 Sep 2025	Fetal anomalies v6.82	NDUFB7	Arina Puzriakova changed review comment from: Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group.; to: Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group. However, tagging for additional expert review to resolve conflicting reviews - first reviewed as Green by me but then as Amber by Vicki Harrison based on the same evidence.
08 Sep 2025	Fetal anomalies v6.81	MAGED2	Arina Puzriakova Phenotypes for gene: MAGED2 were changed from Bartter syndrome, type 5, antenatal, transient to Bartter syndrome, type 5, antenatal, transient, OMIM:300971
08 Sep 2025	Fetal anomalies v6.74	SLC35A3	Arina Puzriakova Phenotypes for gene: SLC35A3 were changed from Arthrogryposis, mental retardation, and seizures, OMIM:615553 to Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553
08 Sep 2025	Fetal anomalies v6.65	PIGG	Arina Puzriakova Phenotypes for gene: PIGG were changed from Intellectual Disability with Seizures and Hypotonia; Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, OMIM:616917; Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy to Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, OMIM:616917
08 Sep 2025	Fetal anomalies v6.64	PI4KA	Arina Puzriakova Phenotypes for gene: PI4KA were changed from Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
08 Sep 2025	Fetal anomalies v6.60	MSL2	Arina Puzriakova Phenotypes for gene: MSL2 were changed from Karayol-Borroto-Haghshenas neurodevelopmental syndrome to Karayol-Borroto-Haghshenas neurodevelopmental syndrome, OMIM:620985
08 Sep 2025	Fetal anomalies v6.59	MIA3	Arina Puzriakova Phenotypes for gene: MIA3 were changed from Odontochondrodysplasia-2 with hearing loss and diabetes to Ondontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269
08 Sep 2025	Fetal anomalies v6.58	MED11	Arina Puzriakova Phenotypes for gene: MED11 were changed from Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities to Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, OMIM:620327
08 Sep 2025	Fetal anomalies v6.56	LSS	Arina Puzriakova Phenotypes for gene: LSS were changed from Cataract 44; Alopecia-intellectual disability syndrome 4 to Alopecia-intellectual disability syndrome 4, OMIM:618840; Cataract 44, OMIM:616509
08 Sep 2025	Fetal anomalies v6.52	IFT27	Arina Puzriakova Phenotypes for gene: IFT27 were changed from Bardet-Biedl syndrome 19, OMIM:615996; Bardet-Biedl syndrome 19 to Bardet-Biedl syndrome 19, OMIM:615996
08 Sep 2025	Fetal anomalies v6.49	GEMIN4	Arina Puzriakova Phenotypes for gene: GEMIN4 were changed from Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913
08 Sep 2025	Fetal anomalies v6.47	EXOSC8	Arina Puzriakova Phenotypes for gene: EXOSC8 were changed from Pontocerebellar hypoplasia, type 1C, OMIM:616081; Pontocerebellar hypoplasia type 1C to Pontocerebellar hypoplasia, type 1C, OMIM:616081
08 Sep 2025	Fetal anomalies v6.41	COQ2	Arina Puzriakova Phenotypes for gene: COQ2 were changed from COENZYME Q10 DEFICIENCY; Coenzyme Q10 deficiency, primary, 1 to Coenzyme Q10 deficiency, primary, 1, OMIM:607426
08 Sep 2025	Fetal anomalies v6.40	COMP	Arina Puzriakova Phenotypes for gene: COMP were changed from Pseudoachondroplasia; MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1; Epiphyseal dysplasia, multiple, 1; ARE THE CAUSE OF PSEUDOACHONDROPLASIA to Epiphyseal dysplasia, multiple, 1, OMIM:132400; Pseudoachondroplasia, OMIM:177170
08 Sep 2025	Fetal anomalies v6.39	COL25A1	Arina Puzriakova Phenotypes for gene: COL25A1 were changed from Arthrogryposis multiplex congenita, MONDO:0015168; Arthrogryposis multiplex congenita to Arthrogryposis multiplex congenita, MONDO:0015168
08 Sep 2025	Fetal anomalies v6.36	CDK5	Arina Puzriakova Phenotypes for gene: CDK5 were changed from Lissencephaly 7 with cerebellar hypoplasia to Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342
08 Sep 2025	Fetal anomalies v6.34	ARL6IP1	Arina Puzriakova Tag Q3_24_NHS_review tag was added to gene: ARL6IP1. Tag Q3_25_promote_green tag was added to gene: ARL6IP1.
05 Sep 2025	Fetal anomalies v6.34	ARL2BP	Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: ARL2BP. Tag Q3_25_NHS_review tag was added to gene: ARL2BP.
05 Sep 2025	Fetal anomalies v6.34	ARL2BP	Arina Puzriakova Phenotypes for gene: ARL2BP were changed from Situs Inversus to Retinitis pigmentosa 82 with or without situs inversus, OMIM:615434; Situs Inversus
05 Sep 2025	Fetal anomalies v6.33	AGT	Arina Puzriakova Phenotypes for gene: AGT were changed from Renal tubular dysgenesis, OMIM:267430; Renal tubular dysgenesis to Renal tubular dysgenesis, OMIM:267430
05 Sep 2025	Fetal anomalies v6.30	MYH9	Arina Puzriakova Phenotypes for gene: MYH9 were changed from DEAFNESS AUTOSOMAL DOMINANT TYPE 17; MAY-HEGGLIN ANOMALY; SEBASTIAN SYNDROME; FECHTNER SYNDROME; EPSTEIN SYNDROME; Deafness, autosomal dominant 17; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS to Deafness, autosomal dominant 17; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
05 Sep 2025	Fetal anomalies v6.29	TAAR1	Arina Puzriakova reviewed gene: TAAR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Sep 2025	Fetal anomalies v6.29	ARPC5	Arina Puzriakova reviewed gene: ARPC5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Sep 2025	Fetal anomalies v6.29	ARL6IP1	Arina Puzriakova reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Sep 2025	Fetal anomalies v6.29	ARL2BP	Arina Puzriakova reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
05 Sep 2025	Fetal anomalies v6.28	CDH11	Natalie Chandler commented on gene: CDH11: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	FAAP100	Sarah Graham commented on gene: FAAP100: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	BORCS5	Sarah Graham commented on gene: BORCS5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	MAGED2	Sarah Graham commented on gene: MAGED2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	ZNRF3	Sarah Graham commented on gene: ZNRF3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	ZNHIT3	Sarah Graham commented on gene: ZNHIT3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	ZNF808	Elizabeth Wall commented on gene: ZNF808: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	ZMYND11	Natalie Bibb commented on gene: ZMYND11: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	ZEB1	Sarah Graham commented on gene: ZEB1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	WDR47	Sarah Graham commented on gene: WDR47: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	UNC50	Sarah Graham commented on gene: UNC50: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	UNC13D	Anna de Burca commented on gene: UNC13D: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	TPM1	Alice Gardham commented on gene: TPM1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	C14orf80	Sunayna Best commented on gene: C14orf80: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	TCP1	Natalie Bibb commented on gene: TCP1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	TCF20	Stephanie Allen commented on gene: TCF20: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	TAAR1	Sarah Graham commented on gene: TAAR1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	SUPT7L	Soo-Mi Park commented on gene: SUPT7L: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	STXBP2	Alice Gardham commented on gene: STXBP2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	STX5	Sahar Mansour commented on gene: STX5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	STX11	Vicki Harrison commented on gene: STX11: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	SRPK3	Sarah Graham commented on gene: SRPK3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	SRP54	Stephanie Allen commented on gene: SRP54: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	SPTA1	Sarah Graham commented on gene: SPTA1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	SPOUT1	Sunayna Best commented on gene: SPOUT1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	SNAPC4	Esther Kinning commented on gene: SNAPC4: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	SLC35A3	Sunayna Best commented on gene: SLC35A3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	SLC30A5	Natalie Chandler commented on gene: SLC30A5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	SLC19A1	Soo-Mi Park commented on gene: SLC19A1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	SLC12A9	Sarah Graham commented on gene: SLC12A9: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	SIRT6	Natalie Canham commented on gene: SIRT6: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	SENP7	Natalie Bibb commented on gene: SENP7: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	SEL1L	Anna de Burca commented on gene: SEL1L: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	RPL26	Elizabeth Wall commented on gene: RPL26: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	RNU5B-1	Natalie Chandler commented on gene: RNU5B-1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	RNU5A-1	Natalie Chandler commented on gene: RNU5A-1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	RNF31	Natalie Chandler commented on gene: RNF31: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	RIPPLY2	Sahar Mansour commented on gene: RIPPLY2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	RBFOX2	Anna de Burca commented on gene: RBFOX2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	RAB11B	Sahar Mansour commented on gene: RAB11B: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	PYGL	Soo-Mi Park commented on gene: PYGL: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	PUS3	Elizabeth Scotchman commented on gene: PUS3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	PURA	Natalie Canham commented on gene: PURA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	PTEN	Sunayna Best commented on gene: PTEN: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	PSKH1	Sarah Graham commented on gene: PSKH1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	PROC	Elizabeth Wall commented on gene: PROC: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	PPFIBP1	Stephanie Allen commented on gene: PPFIBP1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	PPFIA3	Stephanie Allen commented on gene: PPFIA3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	POU3F3	Natalie Chandler commented on gene: POU3F3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	PLVAP	Alice Gardham commented on gene: PLVAP: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	PLAA	Stephanie Allen commented on gene: PLAA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	PIGW	Sahar Mansour commented on gene: PIGW: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	PIGQ	Esther Kinning commented on gene: PIGQ: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	PIGP	Elizabeth Wall commented on gene: PIGP: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	PIGM	Elizabeth Scotchman commented on gene: PIGM: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	PIGG	Anna de Burca commented on gene: PIGG: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	PIGC	Alice Gardham commented on gene: PIGC: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	PI4KA	Anna de Burca commented on gene: PI4KA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	PHF5A	Vicki Harrison commented on gene: PHF5A: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	PDE12	Alice Gardham commented on gene: PDE12: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	PDCD2	Soo-Mi Park commented on gene: PDCD2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	PAK2	Sarah Graham commented on gene: PAK2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	PAICS	Sunayna Best commented on gene: PAICS: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	OSBPL9	Natalie Chandler commented on gene: OSBPL9: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	ODC1	Anna de Burca commented on gene: ODC1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	NUP214	Stephanie Allen commented on gene: NUP214: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	NT5E	Natalie Chandler commented on gene: NT5E: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	NR2F1	Soo-Mi Park commented on gene: NR2F1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	NODAL	Natalie Chandler commented on gene: NODAL: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	NMNAT1	Natalie Chandler commented on gene: NMNAT1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	NKX2-6	Sunayna Best commented on gene: NKX2-6: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	NFASC	Natalie Bibb commented on gene: NFASC: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	NEXN	Sarah Graham commented on gene: NEXN: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	NEUROD1	Soo-Mi Park commented on gene: NEUROD1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	NEPRO	Natalie Canham commented on gene: NEPRO: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	NDUFB7	Vicki Harrison commented on gene: NDUFB7: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	NAGS	Elizabeth Wall commented on gene: NAGS: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	NAGLU	Sarah Graham commented on gene: NAGLU: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	MYL2	Vicki Harrison commented on gene: MYL2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	MYH9	Natalie Chandler commented on gene: MYH9: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	MSL2	Natalie Chandler commented on gene: MSL2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	MPL	Elizabeth Scotchman commented on gene: MPL: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	MIA3	Sarah Graham commented on gene: MIA3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	MET	Stephanie Allen commented on gene: MET: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	MED11	Soo-Mi Park commented on gene: MED11: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	MAPK1	Sarah Graham commented on gene: MAPK1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	MAP3K3	Alice Gardham commented on gene: MAP3K3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	MAN2B2	Sarah Graham commented on gene: MAN2B2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	MAL	Sahar Mansour commented on gene: MAL: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	LSS	Natalie Chandler commented on gene: LSS: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	LRRC8C	Vicki Harrison commented on gene: LRRC8C: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	LIPN	Stephanie Allen commented on gene: LIPN: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	LGI3	Soo-Mi Park commented on gene: LGI3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	LDB1	Vicki Harrison commented on gene: LDB1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	LAGE3	Natalie Chandler commented on gene: LAGE3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	KMT2E	Natalie Bibb commented on gene: KMT2E: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	C12orf66	Sahar Mansour commented on gene: C12orf66: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	KDM6B	Sunayna Best commented on gene: KDM6B: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	KDM1A	Esther Kinning commented on gene: KDM1A: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	KCNH2	Sahar Mansour commented on gene: KCNH2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	KCNB1	Soo-Mi Park commented on gene: KCNB1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	KBTBD2	Esther Kinning commented on gene: KBTBD2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	KAT7	Natalie Chandler commented on gene: KAT7: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	JPH1	Sarah Graham commented on gene: JPH1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	ITGAV	Natalie Canham commented on gene: ITGAV: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	IRF4	Natalie Chandler commented on gene: IRF4: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	IFT27	Sahar Mansour commented on gene: IFT27: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	HNRNPU	Sarah Graham commented on gene: HNRNPU: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	HIRA	Sarah Graham commented on gene: HIRA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	HECTD1	Sarah Graham commented on gene: HECTD1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	HDAC3	Sarah Graham commented on gene: HDAC3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	GUK1	Esther Kinning commented on gene: GUK1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	GTPBP1	Natalie Chandler commented on gene: GTPBP1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	GNS	Sarah Graham commented on gene: GNS: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	GNPNAT1	Vicki Harrison commented on gene: GNPNAT1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	GNAI2	Sarah Graham commented on gene: GNAI2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	GEMIN4	Sahar Mansour commented on gene: GEMIN4: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	GDAP1	Alice Gardham commented on gene: GDAP1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	GATA5	Natalie Chandler commented on gene: GATA5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	GALT	Sarah Graham commented on gene: GALT: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	G6PD	Sarah Graham commented on gene: G6PD: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	FLVCR1	Natalie Canham commented on gene: FLVCR1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	FLII	Sarah Graham commented on gene: FLII: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	FGG	Natalie Canham commented on gene: FGG: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	FBXW11	Elizabeth Scotchman commented on gene: FBXW11: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	FBXO22	Natalie Bibb commented on gene: FBXO22: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	FAM177A1	Vicki Harrison commented on gene: FAM177A1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	EXOSC8	Sarah Graham commented on gene: EXOSC8: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	EXOC6B	Natalie Bibb commented on gene: EXOC6B: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	ERG	Sunayna Best commented on gene: ERG: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	EFL1	Esther Kinning commented on gene: EFL1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	EEFSEC	Natalie Chandler commented on gene: EEFSEC: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	DVL2	Natalie Bibb commented on gene: DVL2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	DTNA	Natalie Bibb commented on gene: DTNA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	DST	Sarah Graham commented on gene: DST: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	DSE	Natalie Chandler commented on gene: DSE: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	DSC2	Alice Gardham commented on gene: DSC2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	DOHH	Esther Kinning commented on gene: DOHH: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	DNAJC21	Elizabeth Wall commented on gene: DNAJC21: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	DHX9	Elizabeth Scotchman commented on gene: DHX9: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	DHRSX	Elizabeth Scotchman commented on gene: DHRSX: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	DDX17	Elizabeth Scotchman commented on gene: DDX17: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	DAND5	Elizabeth Wall commented on gene: DAND5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	CYP24A1	Natalie Chandler commented on gene: CYP24A1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	COQ2	Anna de Burca commented on gene: COQ2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	COMP	Elizabeth Wall commented on gene: COMP: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	COL25A1	Sarah Graham commented on gene: COL25A1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	C1orf127	Elizabeth Scotchman commented on gene: C1orf127: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	CHAF1A	Elizabeth Wall commented on gene: CHAF1A: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	CFI	Esther Kinning commented on gene: CFI: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	CELSR1	Sarah Graham commented on gene: CELSR1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	CDK5	Sarah Graham commented on gene: CDK5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	CCT8	Sarah Graham commented on gene: CCT8: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	CCT6A	Sarah Graham commented on gene: CCT6A: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	CCT3	Natalie Canham commented on gene: CCT3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	CTGF	Elizabeth Scotchman commented on gene: CTGF: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	BRD2	Natalie Canham commented on gene: BRD2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	BORCS8	Natalie Canham commented on gene: BORCS8: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	BICRA	Natalie Chandler commented on gene: BICRA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	BHLHE22	Sarah Graham commented on gene: BHLHE22: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	BAIAP2	Anna de Burca commented on gene: BAIAP2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	ASCC3	Anna de Burca commented on gene: ASCC3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	ARPC5	Stephanie Allen commented on gene: ARPC5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	ARL6IP1	Alice Gardham commented on gene: ARL6IP1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	ARL2BP	Vicki Harrison commented on gene: ARL2BP: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	AGT	Esther Kinning commented on gene: AGT: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	AGRN	Alice Gardham commented on gene: AGRN: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	ACTN2	Natalie Chandler commented on gene: ACTN2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.28	ACO2	Natalie Chandler commented on gene: ACO2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.24	DMPK_CTG	Arina Puzriakova commented on STR: DMPK_CTG: This STR and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.24	XYLT1_GCC	Arina Puzriakova commented on STR: XYLT1_GCC: This STR and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.24	CNBP_CCTG	Arina Puzriakova commented on STR: CNBP_CCTG: This STR and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
05 Sep 2025	Fetal anomalies v6.24	DMPK_CTG	Arina Puzriakova edited their review of STR: DMPK_CTG: Added comment: Green expert review added on behalf of Sunayna Best (Leeds Teaching Hospitals NHS Trust), as part of a review of this panel by the R21 Clinical Oversight Group: "Prenatal presentations of DM1 have been associated with nonspecific ultrasound findings such as clubbed foot, polyhydramnios, ventriculomegaly, and decreased fetal movement. Few published cases include prenatal neuroimaging findings, and ventriculomegaly has been described Shear et al, 2024: report expansion of the prenatal phenotype of DM1 with fetal SVT and frontal bossing with dilated subarachnoid spaces."; Changed rating: GREEN; Changed phenotypes to: Myotonic dystrophy 1; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Sep 2025	Fetal anomalies v6.24	CNBP_CCTG	Arina Puzriakova changed review comment from: Red expert review added on behalf of Alice Gardham (North West Thames Genetics), as part of a review of this panel by the R21 Clinical Oversight Group: Myotonic dytrophy 2 - no fetal presentation.; to: Red expert review added on behalf of Alice Gardham (North West Thames Genetics), as part of a review of this panel by the R21 Clinical Oversight Group: "Myotonic dytrophy 2 - no fetal presentation."
05 Sep 2025	Fetal anomalies v6.24	CNBP_CCTG	Arina Puzriakova edited their review of STR: CNBP_CCTG: Added comment: Red expert review added on behalf of Alice Gardham (North West Thames Genetics), as part of a review of this panel by the R21 Clinical Oversight Group: Myotonic dytrophy 2 - no fetal presentation.; Changed rating: RED
05 Sep 2025	Fetal anomalies v6.24	BORCS5	Sarah Graham reviewed gene: BORCS5: Rating: GREEN; Mode of pathogenicity: ; Publications: 40385417; Phenotypes: Arthrogryposis multiplex congenita, brain malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	MAGED2	Sarah Graham reviewed gene: MAGED2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bartter syndrome, type 5, antenatal, transient; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
05 Sep 2025	Fetal anomalies v6.24	UNC50	Sarah Graham reviewed gene: UNC50: Rating: AMBER; Mode of pathogenicity: ; Publications: 33820833, 40219868, 29016857; Phenotypes: Arthrogryposis multiplex congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	TPM1	Alice Gardham reviewed gene: TPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33553264; Phenotypes: Left ventricular noncompaction 9; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Sep 2025	Fetal anomalies v6.24	TCF20	Stephanie Allen reviewed gene: TCF20: Rating: AMBER; Mode of pathogenicity: ; Publications: 30819258, 40066675; Phenotypes: Developmental delay with variable intellectual impairment and behavioral abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Sep 2025	Fetal anomalies v6.24	TAAR1	Sarah Graham reviewed gene: TAAR1: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Cerebellar vermis hypoplasia, cystic kidneys, polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	SPTA1	Sarah Graham reviewed gene: SPTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31333484, 34132406, 30198572, 38031483; Phenotypes: Hereditary pyropoikilocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	SNAPC4	Esther Kinning reviewed gene: SNAPC4: Rating: AMBER; Mode of pathogenicity: ; Publications: 40186013; Phenotypes: Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	SLC35A3	Sunayna Best reviewed gene: SLC35A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28777481, 24031089, 28328131, 33416188; Phenotypes: Arthrogryposis, mental retardation, and seizures, OMIM:615553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	SLC30A5	Natalie Chandler reviewed gene: SLC30A5: Rating: AMBER; Mode of pathogenicity: ; Publications: 39790720, 12095919, 33547425; Phenotypes: Cardiomyopathy, hydrops fetalis, or cystic hygroma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	SENP7	Natalie Bibb reviewed gene: SENP7: Rating: GREEN; Mode of pathogenicity: ; Publications: 37460201, 39763084; Phenotypes: Fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	RBFOX2	Anna de Burca reviewed gene: RBFOX2: Rating: AMBER; Mode of pathogenicity: ; Publications: 35137168, 27485310, 27670201, 26785492, 25205790, 37165897; Phenotypes: Congenital heart disease, MONDO:0005453; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Sep 2025	Fetal anomalies v6.24	PLVAP	Alice Gardham reviewed gene: PLVAP: Rating: AMBER; Mode of pathogenicity: ; Publications: 26207260, 29875123, 29661969, 31215290; Phenotypes: Diarrhoea 10, protein-losing enteropathy type, OMIM:618183; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	PIGG	Anna de Burca reviewed gene: PIGG: Rating: GREEN; Mode of pathogenicity: ; Publications: 34113002, 26996948; Phenotypes: Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	PI4KA	Anna de Burca reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	PDCD2	Soo-Mi Park reviewed gene: PDCD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 40208938; Phenotypes: hydrops fetalis and early pregnancy loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	OSBPL9	Natalie Chandler reviewed gene: OSBPL9: Rating: RED; Mode of pathogenicity: ; Publications: 40182349; Phenotypes: Fetal Cerebral Ventriculomegaly, Cerebellar Hypoplasia, and Arthrogryposis Multiplex; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	NT5E	Natalie Chandler reviewed gene: NT5E: Rating: RED; Mode of pathogenicity: ; Publications: 26010187, 34999808, 26178434, 21288095, 32522903, 28825389, 27045881; Phenotypes: arterial calcification, joint calcification; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	NMNAT1	Natalie Chandler reviewed gene: NMNAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	NKX2-6	Sunayna Best reviewed gene: NKX2-6: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Conotruncal heart malformations, Persistent truncus arteriosus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	NEXN	Sarah Graham reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: ; Publications: 33949776, 39183344, 35166435, 32058062; Phenotypes: Cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	NDUFB7	Vicki Harrison reviewed gene: NDUFB7: Rating: AMBER; Mode of pathogenicity: ; Publications: 33502047, 40025060; Phenotypes: Mitochondrial complex I deficiency, nuclear type 39; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	NAGLU	Sarah Graham reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: 40066675; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	MYL2	Vicki Harrison reviewed gene: MYL2: Rating: AMBER; Mode of pathogenicity: ; Publications: 39831482; Phenotypes: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, Cardiomyopathy, hypertrophic, 10; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	MYH9	Natalie Chandler reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: ; Publications: 16969870, 31384440; Phenotypes: Deafness, autosomal dominant 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
05 Sep 2025	Fetal anomalies v6.24	MSL2	Natalie Chandler reviewed gene: MSL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194, 38815585, 31332282; Phenotypes: Karayol-Borroto-Haghshenas neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Sep 2025	Fetal anomalies v6.24	MPL	Elizabeth Scotchman reviewed gene: MPL: Rating: AMBER; Mode of pathogenicity: ; Publications: 39763161; Phenotypes: Amegakaryocytic thrombocytopenia, congenital, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	MIA3	Sarah Graham reviewed gene: MIA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 32101163, 33778321, 40119123; Phenotypes: Odontochondrodysplasia-2 with hearing loss and diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	MET	Stephanie Allen reviewed gene: MET: Rating: RED; Mode of pathogenicity: ; Publications: 30777867, 38429387; Phenotypes: ?Arthrogryposis, distal, type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Sep 2025	Fetal anomalies v6.24	MED11	Soo-Mi Park reviewed gene: MED11: Rating: GREEN; Mode of pathogenicity: ; Publications: 39578696, 36001086; Phenotypes: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
05 Sep 2025	Fetal anomalies v6.24	MAPK1	Sarah Graham reviewed gene: MAPK1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 40257485, 32721402; Phenotypes: Noonan syndrome 13; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Sep 2025	Fetal anomalies v6.24	LSS	Natalie Chandler reviewed gene: LSS: Rating: GREEN; Mode of pathogenicity: ; Publications: 39359128; Phenotypes: Alopecia-intellectual disability syndrome 4, Cataract 44; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	KDM1A	Esther Kinning reviewed gene: KDM1A: Rating: AMBER; Mode of pathogenicity: ; Publications: 26656649, 24838796, 27094131; Phenotypes: Cleft palate, psychomotor retardation, and distinctive facial features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Sep 2025	Fetal anomalies v6.24	IFT27	Sahar Mansour reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: ; Publications: 25443296, 2970430, 24488770, 30761183, 37239474, 26763875; Phenotypes: Bardet-Biedl syndrome 19; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	GTPBP1	Natalie Chandler reviewed gene: GTPBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 38118446; Phenotypes: Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, OMIM:620888; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	GNS	Sarah Graham reviewed gene: GNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis type IIID, OMIM:252940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	GEMIN4	Sahar Mansour reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	GDAP1	Alice Gardham reviewed gene: GDAP1: Rating: RED; Mode of pathogenicity: ; Publications: 39945447; Phenotypes: Charcot-Marie-Tooth disease, type 4A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	GATA5	Natalie Chandler reviewed gene: GATA5: Rating: AMBER; Mode of pathogenicity: ; Publications: 40076735; Phenotypes: Congenital heart defects, multiple types, 5; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	FLII	Sarah Graham reviewed gene: FLII: Rating: AMBER; Mode of pathogenicity: ; Publications: 37561591, 32870709; Phenotypes: Cardiomyopathy, dilated, 2J; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	EXOSC8	Sarah Graham reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 34210538, 38017281, 24989451; Phenotypes: Pontocerebellar hypoplasia type 1C; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	DVL2	Natalie Bibb reviewed gene: DVL2: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 35047859, 30521570, 33599851; Phenotypes: Robinow syndrome, MONDO:0019978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Sep 2025	Fetal anomalies v6.24	DST	Sarah Graham reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: ; Publications: 37431644; Phenotypes: Arthrogryposis multiplex congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	DSC2	Alice Gardham reviewed gene: DSC2: Rating: RED; Mode of pathogenicity: ; Publications: 40188065; Phenotypes: Arrhythmogenic right ventricular dysplasia, familial, 11; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	DNAJC21	Elizabeth Wall reviewed gene: DNAJC21: Rating: AMBER; Mode of pathogenicity: ; Publications: 27346687, 28062395, 29700810; Phenotypes: Bone marrow failure syndrome 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	COQ2	Anna de Burca reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: 39763161; Phenotypes: Coenzyme Q10 deficiency, primary, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	COMP	Elizabeth Wall reviewed gene: COMP: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 40188065, 39521787; Phenotypes: Epiphyseal dysplasia, multiple, 1, Pseudoachondroplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Sep 2025	Fetal anomalies v6.24	COL25A1	Sarah Graham reviewed gene: COL25A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40158061; Phenotypes: Arthrogryposis multiplex congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	CDK5	Sarah Graham reviewed gene: CDK5: Rating: GREEN; Mode of pathogenicity: ; Publications: 25560765, 40186457; Phenotypes: Lissencephaly 7 with cerebellar hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	ARPC5	Stephanie Allen reviewed gene: ARPC5: Rating: RED; Mode of pathogenicity: ; Publications: 37382373, 37349293; Phenotypes: Immunodeficiency 113 with autoimmunity and autoinflammation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	ARL6IP1	Alice Gardham reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39954331; Phenotypes: Spastic paraplegia 61, autosomal recessive, OMIM:615685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	ARL2BP	Vicki Harrison reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: ; Publications: 36507858, 40384762, 38649918, 23849777, 27790702; Phenotypes: Situs Inversus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	AGT	Esther Kinning reviewed gene: AGT: Rating: GREEN; Mode of pathogenicity: ; Publications: 39641285; Phenotypes: Renal tubular dysgenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.24	ACTN2	Natalie Chandler reviewed gene: ACTN2: Rating: RED; Mode of pathogenicity: ; Publications: 39521787; Phenotypes: Congenital myopathy 8, Cardiomyopathy, hypertrophic, 23, with or without LVNC, Cardiomyopathy, dilated, 1AA, with or without LVNC; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
05 Sep 2025	Fetal anomalies v6.24	ACO2	Natalie Chandler reviewed gene: ACO2: Rating: AMBER; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Infantile cerebellar-retinal degeneration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Sep 2025	Fetal anomalies v6.21	BORCS5	Arina Puzriakova gene: BORCS5 was added gene: BORCS5 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: BORCS5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BORCS5 were set to 40385417 Phenotypes for gene: BORCS5 were set to Arthrogryposis multiplex congenita, brain malformations
05 Sep 2025	Fetal anomalies v6.21	MAGED2	Arina Puzriakova gene: MAGED2 was added gene: MAGED2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: MAGED2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MAGED2 were set to Bartter syndrome, type 5, antenatal, transient
05 Sep 2025	Fetal anomalies v6.21	UNC50	Arina Puzriakova gene: UNC50 was added gene: UNC50 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: UNC50 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC50 were set to 29016857; 40219868; 33820833 Phenotypes for gene: UNC50 were set to Arthrogryposis multiplex congenita
05 Sep 2025	Fetal anomalies v6.21	TPM1	Arina Puzriakova gene: TPM1 was added gene: TPM1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: TPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TPM1 were set to 33553264 Phenotypes for gene: TPM1 were set to Left ventricular noncompaction 9
05 Sep 2025	Fetal anomalies v6.21	TCF20	Arina Puzriakova Mode of inheritance for gene TCF20 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Developmental delay with variable intellectual impairment and behavioral abnormalities for gene: TCF20 Publications for gene: TCF20 were updated from to 30819258; 40066675
05 Sep 2025	Fetal anomalies v6.21	TAAR1	Arina Puzriakova gene: TAAR1 was added gene: TAAR1 was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: TAAR1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAAR1 were set to 39891418 Phenotypes for gene: TAAR1 were set to Cerebellar vermis hypoplasia, cystic kidneys, polydactyly
05 Sep 2025	Fetal anomalies v6.21	SPTA1	Arina Puzriakova Source Expert Review Amber was added to SPTA1. Mode of inheritance for gene SPTA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hereditary pyropoikilocytosis for gene: SPTA1 Publications for gene: SPTA1 were updated from 31333484; 33082562; 34132406 to 34132406; 30198572; 38031483; 33082562; 31333484 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
05 Sep 2025	Fetal anomalies v6.21	SNAPC4	Arina Puzriakova gene: SNAPC4 was added gene: SNAPC4 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: SNAPC4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNAPC4 were set to 40186013 Phenotypes for gene: SNAPC4 were set to Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
05 Sep 2025	Fetal anomalies v6.21	SLC35A3	Arina Puzriakova gene: SLC35A3 was added gene: SLC35A3 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: SLC35A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC35A3 were set to 28328131; 28777481; 24031089; 33416188 Phenotypes for gene: SLC35A3 were set to Arthrogryposis, mental retardation, and seizures, OMIM:615553
05 Sep 2025	Fetal anomalies v6.21	SLC30A5	Arina Puzriakova gene: SLC30A5 was added gene: SLC30A5 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: SLC30A5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC30A5 were set to 33547425; 12095919; 39790720 Phenotypes for gene: SLC30A5 were set to Cardiomyopathy, hydrops fetalis, or cystic hygroma
05 Sep 2025	Fetal anomalies v6.21	SENP7	Arina Puzriakova gene: SENP7 was added gene: SENP7 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: SENP7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SENP7 were set to 37460201; 39763084 Phenotypes for gene: SENP7 were set to Fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia
05 Sep 2025	Fetal anomalies v6.21	RBFOX2	Arina Puzriakova gene: RBFOX2 was added gene: RBFOX2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: RBFOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RBFOX2 were set to 27670201; 25205790; 37165897; 26785492; 27485310; 35137168 Phenotypes for gene: RBFOX2 were set to Congenital heart disease, MONDO:0005453
05 Sep 2025	Fetal anomalies v6.21	PLVAP	Arina Puzriakova gene: PLVAP was added gene: PLVAP was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: PLVAP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLVAP were set to 31215290; 29875123; 29661969; 26207260 Phenotypes for gene: PLVAP were set to Diarrhoea 10, protein-losing enteropathy type, OMIM:618183
05 Sep 2025	Fetal anomalies v6.21	PIGG	Arina Puzriakova Added phenotypes Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy for gene: PIGG
05 Sep 2025	Fetal anomalies v6.21	PI4KA	Arina Puzriakova Added phenotypes Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis for gene: PI4KA Publications for gene: PI4KA were updated from 34415310 to 34415310; 39891418
05 Sep 2025	Fetal anomalies v6.21	PDCD2	Arina Puzriakova gene: PDCD2 was added gene: PDCD2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: PDCD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDCD2 were set to 40208938 Phenotypes for gene: PDCD2 were set to hydrops fetalis and early pregnancy loss
05 Sep 2025	Fetal anomalies v6.21	OSBPL9	Arina Puzriakova gene: OSBPL9 was added gene: OSBPL9 was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: OSBPL9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OSBPL9 were set to 40182349 Phenotypes for gene: OSBPL9 were set to Fetal Cerebral Ventriculomegaly, Cerebellar Hypoplasia, and Arthrogryposis Multiplex
05 Sep 2025	Fetal anomalies v6.21	NT5E	Arina Puzriakova gene: NT5E was added gene: NT5E was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: NT5E was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NT5E were set to 21288095; 32522903; 28825389; 26178434; 34999808; 27045881; 26010187 Phenotypes for gene: NT5E were set to arterial calcification; joint calcification
05 Sep 2025	Fetal anomalies v6.21	NMNAT1	Arina Puzriakova Source Expert Review Amber was added to NMNAT1. Added phenotypes Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis for gene: NMNAT1 Publications for gene: NMNAT1 were updated from to 39891418 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
05 Sep 2025	Fetal anomalies v6.21	NKX2-6	Arina Puzriakova Added phenotypes Conotruncal heart malformations; Persistent truncus arteriosus for gene: NKX2-6 Publications for gene: NKX2-6 were updated from 32198970; 15649947; 24421281; 25319568; 25380965 to 25319568; 15649947; 32198970; 39891418; 25380965; 24421281
05 Sep 2025	Fetal anomalies v6.21	NEXN	Arina Puzriakova Mode of inheritance for gene NEXN was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cardiomyopathy for gene: NEXN Publications for gene: NEXN were updated from 33947203; 32058062; 35166435; 33027564; 33949776 to 39183344; 33947203; 33949776; 33027564; 35166435; 32058062
05 Sep 2025	Fetal anomalies v6.21	NDUFB7	Arina Puzriakova Added phenotypes Mitochondrial complex I deficiency, nuclear type 39 for gene: NDUFB7 Publications for gene: NDUFB7 were updated from 33502047; 27626371; 40025060 to 27626371; 40025060; 33502047
05 Sep 2025	Fetal anomalies v6.21	NAGLU	Arina Puzriakova Added phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B) for gene: NAGLU Publications for gene: NAGLU were updated from to 40066675
05 Sep 2025	Fetal anomalies v6.21	MYL2	Arina Puzriakova gene: MYL2 was added gene: MYL2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: MYL2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MYL2 were set to 39831482 Phenotypes for gene: MYL2 were set to Cardiomyopathy, hypertrophic, 10; Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
05 Sep 2025	Fetal anomalies v6.21	MYH9	Arina Puzriakova Added phenotypes Deafness, autosomal dominant 17; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss for gene: MYH9 Publications for gene: MYH9 were updated from to 16969870; 31384440
05 Sep 2025	Fetal anomalies v6.21	MSL2	Arina Puzriakova gene: MSL2 was added gene: MSL2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: MSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MSL2 were set to 38815585; 33057194; 31332282 Phenotypes for gene: MSL2 were set to Karayol-Borroto-Haghshenas neurodevelopmental syndrome
05 Sep 2025	Fetal anomalies v6.21	MPL	Arina Puzriakova gene: MPL was added gene: MPL was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MPL were set to 39763161 Phenotypes for gene: MPL were set to Amegakaryocytic thrombocytopenia, congenital, 1
05 Sep 2025	Fetal anomalies v6.21	MIA3	Arina Puzriakova gene: MIA3 was added gene: MIA3 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: MIA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MIA3 were set to 32101163; 40119123; 33778321 Phenotypes for gene: MIA3 were set to Odontochondrodysplasia-2 with hearing loss and diabetes
05 Sep 2025	Fetal anomalies v6.21	MET	Arina Puzriakova gene: MET was added gene: MET was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: MET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MET were set to 30777867; 38429387 Phenotypes for gene: MET were set to ?Arthrogryposis, distal, type 1
05 Sep 2025	Fetal anomalies v6.21	MED11	Arina Puzriakova gene: MED11 was added gene: MED11 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED11 were set to 36001086; 39578696 Phenotypes for gene: MED11 were set to Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
05 Sep 2025	Fetal anomalies v6.21	MAPK1	Arina Puzriakova Mode of pathogenicity for gene MAPK1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Noonan syndrome 13 for gene: MAPK1 Publications for gene: MAPK1 were updated from 32721402 to 32721402; 40257485
05 Sep 2025	Fetal anomalies v6.21	LSS	Arina Puzriakova gene: LSS was added gene: LSS was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LSS were set to 39359128 Phenotypes for gene: LSS were set to Cataract 44; Alopecia-intellectual disability syndrome 4
05 Sep 2025	Fetal anomalies v6.21	KDM1A	Arina Puzriakova Added phenotypes Cleft palate, psychomotor retardation, and distinctive facial features for gene: KDM1A Publications for gene: KDM1A were updated from 27094131; 24838796; 26656649 to 27094131; 24838796; 26656649
05 Sep 2025	Fetal anomalies v6.21	IFT27	Arina Puzriakova Added phenotypes Bardet-Biedl syndrome 19 for gene: IFT27 Publications for gene: IFT27 were updated from 25443296; 24488770; 26763875; 30761183 to 25443296; 37239474; 24488770; 30761183; 26763875; 2970430
05 Sep 2025	Fetal anomalies v6.21	GTPBP1	Arina Puzriakova Added phenotypes Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, OMIM:620888 for gene: GTPBP1
05 Sep 2025	Fetal anomalies v6.21	GNS	Arina Puzriakova Added phenotypes Mucopolysaccharidosis type IIID, OMIM:252940 for gene: GNS
05 Sep 2025	Fetal anomalies v6.21	GEMIN4	Arina Puzriakova gene: GEMIN4 was added gene: GEMIN4 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: GEMIN4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GEMIN4 were set to 39891418 Phenotypes for gene: GEMIN4 were set to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
05 Sep 2025	Fetal anomalies v6.21	GDAP1	Arina Puzriakova gene: GDAP1 was added gene: GDAP1 was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: GDAP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GDAP1 were set to 39945447 Phenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease, type 4A
05 Sep 2025	Fetal anomalies v6.21	GATA5	Arina Puzriakova Mode of inheritance for gene GATA5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Congenital heart defects, multiple types, 5 for gene: GATA5 Publications for gene: GATA5 were updated from 33082562 to 40076735; 33082562
05 Sep 2025	Fetal anomalies v6.21	FLII	Arina Puzriakova gene: FLII was added gene: FLII was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: FLII was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FLII were set to 37561591; 32870709 Phenotypes for gene: FLII were set to Cardiomyopathy, dilated, 2J
05 Sep 2025	Fetal anomalies v6.21	EXOSC8	Arina Puzriakova Added phenotypes Pontocerebellar hypoplasia type 1C for gene: EXOSC8 Publications for gene: EXOSC8 were updated from 24989451; 34210538 to 38017281; 34210538; 24989451
05 Sep 2025	Fetal anomalies v6.21	DVL2	Arina Puzriakova Mode of pathogenicity for gene DVL2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Robinow syndrome, MONDO:0019978 for gene: DVL2 Publications for gene: DVL2 were updated from 35047859; 33599851; 30521570 to 33599851; 30521570; 35047859
05 Sep 2025	Fetal anomalies v6.21	DST	Arina Puzriakova gene: DST was added gene: DST was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DST were set to 37431644 Phenotypes for gene: DST were set to Arthrogryposis multiplex congenita
05 Sep 2025	Fetal anomalies v6.21	DSC2	Arina Puzriakova gene: DSC2 was added gene: DSC2 was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: DSC2 were set to 40188065 Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia, familial, 11
05 Sep 2025	Fetal anomalies v6.21	DNAJC21	Arina Puzriakova gene: DNAJC21 was added gene: DNAJC21 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAJC21 were set to 29700810; 28062395; 27346687 Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3
05 Sep 2025	Fetal anomalies v6.21	COQ2	Arina Puzriakova Source Expert Review Amber was added to COQ2. Added phenotypes Coenzyme Q10 deficiency, primary, 1 for gene: COQ2 Publications for gene: COQ2 were updated from to 39763161 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
05 Sep 2025	Fetal anomalies v6.21	COMP	Arina Puzriakova Source Expert Review Amber was added to COMP. Mode of inheritance for gene COMP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mode of pathogenicity for gene COMP was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Pseudoachondroplasia; Epiphyseal dysplasia, multiple, 1 for gene: COMP Publications for gene: COMP were updated from to 39521787; 40188065 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
05 Sep 2025	Fetal anomalies v6.21	COL25A1	Arina Puzriakova Source Expert Review Amber was added to COL25A1. Added phenotypes Arthrogryposis multiplex congenita for gene: COL25A1 Publications for gene: COL25A1 were updated from 26437029; 35077597 to 26437029; 40158061; 35077597 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
05 Sep 2025	Fetal anomalies v6.21	CDK5	Arina Puzriakova gene: CDK5 was added gene: CDK5 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: CDK5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDK5 were set to 25560765; 40186457 Phenotypes for gene: CDK5 were set to Lissencephaly 7 with cerebellar hypoplasia
05 Sep 2025	Fetal anomalies v6.21	ARPC5	Arina Puzriakova gene: ARPC5 was added gene: ARPC5 was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: ARPC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARPC5 were set to 37349293; 37382373 Phenotypes for gene: ARPC5 were set to Immunodeficiency 113 with autoimmunity and autoinflammation
05 Sep 2025	Fetal anomalies v6.21	ARL6IP1	Arina Puzriakova gene: ARL6IP1 was added gene: ARL6IP1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL6IP1 were set to 39954331 Phenotypes for gene: ARL6IP1 were set to Spastic paraplegia 61, autosomal recessive, OMIM:615685
05 Sep 2025	Fetal anomalies v6.21	ARL2BP	Arina Puzriakova gene: ARL2BP was added gene: ARL2BP was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: ARL2BP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL2BP were set to 27790702; 36507858; 23849777; 38649918; 40384762 Phenotypes for gene: ARL2BP were set to Situs Inversus
05 Sep 2025	Fetal anomalies v6.21	AGT	Arina Puzriakova Added phenotypes Renal tubular dysgenesis for gene: AGT Publications for gene: AGT were updated from 16116425; 28976722; 33163725; 34234805 to 34234805; 28976722; 16116425; 39641285; 33163725
05 Sep 2025	Fetal anomalies v6.21	ACTN2	Arina Puzriakova gene: ACTN2 was added gene: ACTN2 was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACTN2 were set to 39521787 Phenotypes for gene: ACTN2 were set to Cardiomyopathy, hypertrophic, 23, with or without LVNC; Cardiomyopathy, dilated, 1AA, with or without LVNC; Congenital myopathy 8
05 Sep 2025	Fetal anomalies v6.21	ACO2	Arina Puzriakova Added phenotypes Infantile cerebellar-retinal degeneration for gene: ACO2 Publications for gene: ACO2 were updated from 34056600 to 34056600; 39891418
01 Sep 2025	Fetal anomalies v6.20	GNS	Arina Puzriakova Phenotypes for gene: GNS were changed from MUCOPOLYSACCHARIDOSIS TYPE 3D to Mucopolysaccharidosis type IIID, OMIM:252940
29 Aug 2025	Fetal anomalies v6.17	EVC2	Ida Ertmanska changed review comment from: Comment on list classification: There are at least five unrelated families reported in literature with Weyers acrofacial dysostosis (rare skeletal dysplasia) and heterozygous variants in exon 22 of EVC2. While biallelic variants in EVC2 are associated with Ellis-van Creveld syndrome, Weyers acrofacial dysostosis is dominantly inherited. MOI should be changed from BIALLELIC to BOTH monoallelic and biallelic in the next GMS panel update.; to: Comment on mode of inheritance: There are at least five unrelated families reported in literature with Weyers acrofacial dysostosis (rare skeletal dysplasia) and heterozygous variants in exon 22 of EVC2. While biallelic variants in EVC2 are associated with Ellis-van Creveld syndrome, Weyers acrofacial dysostosis is dominantly inherited. MOI should be changed from BIALLELIC to BOTH monoallelic and biallelic in the next GMS panel update.
29 Aug 2025	Fetal anomalies v6.17	EVC2	Ida Ertmanska commented on gene: EVC2: Comment on list classification: There are at least five unrelated families reported in literature with Weyers acrofacial dysostosis (rare skeletal dysplasia) and heterozygous variants in exon 22 of EVC2. While biallelic variants in EVC2 are associated with Ellis-van Creveld syndrome, Weyers acrofacial dysostosis is dominantly inherited. MOI should be changed from BIALLELIC to BOTH monoallelic and biallelic in the next GMS panel update.
29 Aug 2025	Fetal anomalies v6.17	ACO2	Arina Puzriakova Added comment: Comment on mode of inheritance: Updated from 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' to 'BIALLELIC, autosomal or pseudoautosomal' as isolated optic atrophy caused by heterozygous variants in this gene is not relevant to the fetal panel. Extraocular features are rare in dominant cases (11%) and would also not be relevant to this panel (e.g. hearing loss, ataxia, nystagmus, metabolic dysfunction) (PMID: 34056600)
29 Aug 2025	Fetal anomalies v6.16	ACO2	Arina Puzriakova Phenotypes for gene: ACO2 were changed from INFANTILE CEREBELLAR-RETINAL DEGENERATION to Infantile cerebellar-retinal degeneration, OMIM:614559
08 Aug 2025	Fetal anomalies v6.15	LINC01082	Hannah Robinson gene: LINC01082 was added gene: LINC01082 was added to Fetal anomalies. Sources: NHS GMS Mode of inheritance for gene: LINC01082 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LINC01082 were set to PMID: 27071622; PMID: 27822317 Phenotypes for gene: LINC01082 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins Penetrance for gene: LINC01082 were set to Complete Review for gene: LINC01082 was set to GREEN gene: LINC01082 was marked as current diagnostic Added comment: LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer of FOXF1. Pathogenic variants in FOXF1 or deletions of its upstream enhancer region cause alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) (MIM265380). The majority of previously reported deletions of the upstream enhancer region have occurred de novo on the maternal allele. Sources: NHS GMS
08 Aug 2025	Fetal anomalies v6.15	LINC01081	Hannah Robinson gene: LINC01081 was added gene: LINC01081 was added to Fetal anomalies. Sources: NHS GMS Mode of inheritance for gene: LINC01081 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: LINC01081 were set to PMID: 27071622; PMID: 27822317 Phenotypes for gene: LINC01081 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins Penetrance for gene: LINC01081 were set to Complete Review for gene: LINC01081 was set to GREEN gene: LINC01081 was marked as current diagnostic Added comment: LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer of FOXF1. Pathogenic variants in FOXF1 or deletions of its upstream enhancer region cause alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) (MIM265380). The majority of previously reported deletions of the upstream enhancer region have occurred de novo on the maternal allele. Sources: NHS GMS
07 Aug 2025	Fetal anomalies v6.15	PDE12	Achchuthan Shanmugasundram Added comment: Comment on list classification: Of the three unrelated families reported with biallelic PDE12 variants, foetal anomalies were reported in two families. There is also functional and in silico evidence available. Hence, this gene can be promoted to green rating in the next GMS update.
07 Aug 2025	Fetal anomalies v6.14	PDE12	Achchuthan Shanmugasundram changed review comment from: PMID:39567835 (2025) reported five cases (three live-borns and two foetuses) from three unrelated families presenting with severe early-onset mitochondrial disease. They showed wide-ranging clinical presentations in utero and within the neonatal period, with muscle and brain involvement leading to marked cytochrome c oxidase (COX) deficiency in muscle and severe lactic acidosis. In family 1, one of the two patients died at 3 months of age, while patient from family 2 died at day 2. Increased nuchal translucency, severe intra-uterine growth retardation, hydrops and cystic hygroma was noted in one of the two foetuses by prenatal ultrasound and the pregnancy ended spontaneously at 22 gestational weeks. Nuchal translucency and absence of foetal movements were observed in the other foetus, which was terminated at 19 weeks. All three families harboured a different homozygous variant in PDE12 gene (p.Tyr155Cys, p.Gly372Glu & p.Arg41Pro) as identified by whole-exome sequencing. Based on the gnomAD database, all three missense variants were reported to be rare in general population. Functional evidence from patient fibroblast studies showed reduced PDE12 protein and accumulation of abnormally polyadenylated mitochondrial tRNAs/rRNAs, causing disrupted mitochondrial RNA processing. In addition, in silico modeling of the variants also suggested loss of function. This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature; to: PMID:39567835 (2025) reported five cases (three live-borns and two foetuses) from three unrelated families presenting with severe early-onset mitochondrial disease. They showed wide-ranging clinical presentations in utero and within the neonatal period, with muscle and brain involvement leading to marked cytochrome c oxidase (COX) deficiency in muscle and severe lactic acidosis. Of these, the patient from family 2 (died on day 2 after birth), and the two foetuses from family 3 had foetal anomalies detected via prenatal ultrasound. The patient from family 2 had brain anomalies. Increased nuchal translucency, severe intra-uterine growth retardation, hydrops and cystic hygroma was noted in one of the two foetuses from family 3 and the pregnancy ended spontaneously at 22 gestational weeks. Nuchal translucency and absence of foetal movements were observed in the other foetus, which was terminated at 19 weeks. All three families harboured a different homozygous variant in PDE12 gene (p.Tyr155Cys, p.Gly372Glu & p.Arg41Pro) as identified by whole-exome sequencing. Based on the gnomAD database, all three missense variants were reported to be rare in general population. Functional evidence from patient fibroblast studies showed reduced PDE12 protein and accumulation of abnormally polyadenylated mitochondrial tRNAs/rRNAs, causing disrupted mitochondrial RNA processing. In addition, in silico modeling of the variants also suggested loss of function. This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature
07 Aug 2025	Fetal anomalies v6.14	PDE12	Achchuthan Shanmugasundram gene: PDE12 was added gene: PDE12 was added to Fetal anomalies. Sources: Literature Q3_25_promote_green tags were added to gene: PDE12. Mode of inheritance for gene: PDE12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDE12 were set to 39567835 Phenotypes for gene: PDE12 were set to mitochondrial disease, MONDO:0044970 Review for gene: PDE12 was set to GREEN Added comment: PMID:39567835 (2025) reported five cases (three live-borns and two foetuses) from three unrelated families presenting with severe early-onset mitochondrial disease. They showed wide-ranging clinical presentations in utero and within the neonatal period, with muscle and brain involvement leading to marked cytochrome c oxidase (COX) deficiency in muscle and severe lactic acidosis. In family 1, one of the two patients died at 3 months of age, while patient from family 2 died at day 2. Increased nuchal translucency, severe intra-uterine growth retardation, hydrops and cystic hygroma was noted in one of the two foetuses by prenatal ultrasound and the pregnancy ended spontaneously at 22 gestational weeks. Nuchal translucency and absence of foetal movements were observed in the other foetus, which was terminated at 19 weeks. All three families harboured a different homozygous variant in PDE12 gene (p.Tyr155Cys, p.Gly372Glu & p.Arg41Pro) as identified by whole-exome sequencing. Based on the gnomAD database, all three missense variants were reported to be rare in general population. Functional evidence from patient fibroblast studies showed reduced PDE12 protein and accumulation of abnormally polyadenylated mitochondrial tRNAs/rRNAs, causing disrupted mitochondrial RNA processing. In addition, in silico modeling of the variants also suggested loss of function. This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature
04 Aug 2025	Fetal anomalies v6.13	CDH1	Arina Puzriakova Phenotypes for gene: CDH1 were changed from Blepharo-cheiro-dontic syndrome to Blepharocheilodontic syndrome 1, OMIM:119580
31 Jul 2025	Fetal anomalies v6.12	MYH3	Arina Puzriakova Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2B; DISTAL ARTHROGRYPOSIS TYPE 2A to Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM:193700 (AD); Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM:618436 (AD); Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, OMIM:178110 (AD); Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, OMIM:618469 (AR)
31 Jul 2025	Fetal anomalies v6.10	MYH3	Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be changed from 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' at the next GMS panel update. Monoallelic variants are associated with distal arthrogryposis conditions including Freeman-Sheldon syndrome and Sheldon-Hall syndrome. Monoallelic and biallelic variants also underlie Contractures, Pterygia, and Spondylocarpotarsal Fusion syndromes (CPSFS) which are characterised by extensive bony abnormalities in addition to congenital contractures. These features could be detected prenatally and therefore are relevant to this panel. At least 3 unrelated recessive CPSFS cases have been reported with multiple contractures (PMID: 29805041). Additionally, two sibs from one family have been reported with distal arthrogryposis without additional features of CPSFS, who harboured two homozygous ultra-rare MYH3 variants (PMID: 38856159). Their presentation was assessed in a prenatal diagnostic setting. Overall this evidence supports an MOI of 'both mono- and biallelic' on this panel.
16 Jun 2025	Fetal anomalies v6.6	COL3A1	Arina Puzriakova Phenotypes for gene: COL3A1 were changed from HP:0002126; HP:0001883; HP:0006496 to Ehlers-Danlos syndrome, vascular type, OMIM:130050; Polymicrogyria with or without vascular-type EDS, OMIM:618343
01 May 2025	Fetal anomalies v6.5	SYNGAP1	Arina Puzriakova Phenotypes for gene: SYNGAP1 were changed from EPILEPTIC ENCEPHALOPATHY; MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 5 to Intellectual developmental disorder, autosomal dominant 5, OMIM:612621
26 Apr 2025	Fetal anomalies v5.96	C1orf127	Julia Baptista gene: C1orf127 was added gene: C1orf127 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: C1orf127 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1orf127 were set to 39753129 Phenotypes for gene: C1orf127 were set to Heterotaxy Review for gene: C1orf127 was set to GREEN Added comment: OMIM entry now available for this gene and condition. The HGNC approved gene name is CIROZ Sixteen individuals from 10 independently ascertained families with Left-right anomalies with or without Congenital Heart Defects, consistent with Heterotaxy. Family 1 is of European ancestry, and families 9 and 10 are from Central America, while all remaining families were of Middle Eastern background and known to be consanguineous. Of these 16 affected individuals, three were affected fetuses subjected to termination of pregnancy, and two died in the first year of life due to complex cardiac phenotypes. Sources: Literature
15 Apr 2025	Fetal anomalies v5.93	SIRT6	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are four foetuses from a single family and several pieces of functional evidence available in support of the association. This gene is tagged for expert review from the Genomic Laboratory Hubs to decide whether the available evidence is sufficient for promotion to green rating on the next update.; to: Comment on list classification: There are four foetuses from a single family and several pieces of functional evidence available in support of the association. This gene is tagged for expert review from the NHS Genomic Medicine Service to decide whether the available evidence is sufficient for promotion to green rating on the next update.
15 Apr 2025	Fetal anomalies v5.93	SIRT6	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four foetuses from a single family and several pieces of functional evidence available in support of the association. This gene is tagged for expert review from the Genomic Laboratory Hubs to decide whether the available evidence is sufficient for promotion to green rating on the next update.
09 Apr 2025	Fetal anomalies v5.90	LMNB2	Sarah Leigh changed review comment from: PMID: 40011009 reports two related babies who were homozygous for a loss-of-function LMNB2 variant. Both babies shared a similar phenotype of severe brain development abnormalities and died during the perinatal period. This shared phenotype was reflected in the several Lmnb2-deficient mouse models. Material from the patient’s fibroblasts (obtained at birth) were used in Western blot and immunofluorescence cell labelling, and confirmed the complete absence of lamin B2 and revealed an increase in lamin B1, together with alterations in alpha-tubulin and vimentin organisation. (PMID: 40011009).; to: PMID: 40011009 reports two related babies who were homozygous for a loss-of-function LMNB2 variant. Both babies shared a similar phenotype of severe brain development abnormalities and died during the perinatal period. This shared phenotype was reflected in several Lmnb2-deficient mouse models. Material from the patient’s fibroblasts (obtained at birth) were used in Western blot and immunofluorescence cell labelling, and confirmed the complete absence of lamin B2 and revealed an increase in lamin B1, together with alterations in alpha-tubulin and vimentin organisation. (PMID: 40011009).
09 Apr 2025	Fetal anomalies v5.90	LMNB2	Sarah Leigh Phenotypes for gene: LMNB2 were changed from Microcephaly 27, primary, autosomal dominant, OMIM:619180 to Microcephaly 27, primary, autosomal dominant, OMIM:619180; microcephaly 27, primary, autosomal dominant, MONDO:0030929
07 Apr 2025	Fetal anomalies v5.88	SCN4A	Sarah Leigh Phenotypes for gene: SCN4A were changed from PARAMYOTONIA CONGENITA OF VON EULENBURG; HYPERKALEMIC PERIODIC PARALYSIS TYPE 1; HYPOKALEMIC PERIODIC PARALYSIS to Classic congenital myopathy-22A, OMIM:620351; congenital myopathy 22A, classic,MONDO:0957247:Severe fetal congenital myopathy-22B, OMIM:620369; congenital myopathy 22B, severe fetal, MONDO:0957265
27 Mar 2025	Fetal anomalies v5.87	VIPAS39	Arina Puzriakova Phenotypes for gene: VIPAS39 were changed from ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 to Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404; ARC syndrome
26 Mar 2025	Fetal anomalies v5.86	DET1	Sarah Leigh Added comment: Comment on publications: PMID: 39937864 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
26 Mar 2025	Fetal anomalies v5.85	DET1	Sarah Leigh gene: DET1 was added gene: DET1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: DET1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DET1 were set to 39937864 Phenotypes for gene: DET1 were set to neurological defects and lethality Review for gene: DET1 was set to RED Added comment: PMID: 39937864 reports a family where the three affected siblings were homozygous for a variant in DET1 (c.76C>T, p.R26W) and also for a variant in COMMD4 (c.122T>G; p.L41R). These genes are both on chromosome 15, separated by 13 Mb and are likely to co-segregate. The parents of these cases were healthy, heterozygous carriers of the DET1 p.R26W variant. The cases described developed lethal developmental abnormalities and the longest lived sib died at 8 months old. Extensive functional studies were reported in PMID: 39937864 and using Det1- deficient mice and human-induced pluripotent stem cells (iPSCs) expressing DET1R26W, the authors were able to show that DET1 is essential for normal neuronal development. Sources: Literature
18 Mar 2025	Fetal anomalies v5.84	NDUFB7	Arina Puzriakova edited their review of gene: NDUFB7: Changed publications to: 40025060; Changed phenotypes to: Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Mar 2025	Fetal anomalies v5.83	NDUFB7	Arina Puzriakova Phenotypes for gene: NDUFB7 were changed from ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135 to Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135
12 Mar 2025	Fetal anomalies v5.80	RNU4-2	Achchuthan Shanmugasundram Tag locus-type-rna-small-nuclear tag was added to gene: RNU4-2. Tag gene-checked tag was added to gene: RNU4-2.
12 Mar 2025	Fetal anomalies v5.80	HYAL2	Achchuthan Shanmugasundram Phenotypes for gene: HYAL2 were changed from congenital cardiac malformations; Cleft lip and palate; cor triatriatum to Muggenthaler-Chowdhury-Chioza syndrome, OMIM:621063
25 Feb 2025	Fetal anomalies v5.78	TOGARAM1	Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: TOGARAM1. Tag Q1_25_ promote_green was removed from gene: TOGARAM1.
25 Feb 2025	Fetal anomalies v5.78	TOGARAM1	Achchuthan Shanmugasundram edited their review of gene: TOGARAM1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Feb 2025	Fetal anomalies v5.77	TOGARAM1	Achchuthan Shanmugasundram Source Expert Review Green was added to TOGARAM1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
21 Feb 2025	Fetal anomalies v5.75	DRC1	Elizabeth Wall reviewed gene: DRC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39152285, 34851034, 39462806; Phenotypes: Ciliary dyskinesia, primary, 21, MIM#615294; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
21 Feb 2025	Fetal anomalies v5.75	DHX30	Elizabeth Wall reviewed gene: DHX30: Rating: GREEN; Mode of pathogenicity: ; Publications: 38366977, 37094863, 34020708, 34180050, 34145223, 36643085; Phenotypes: Neurodevelopmental disorder with variable motor and language impairment, MIM#617804; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
21 Feb 2025	Fetal anomalies v5.75	DAW1	Elizabeth Wall reviewed gene: DAW1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36074124, 28991257; Phenotypes: Ciliary dyskinesia, primary, 52, MIM#620570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
21 Feb 2025	Fetal anomalies v5.74	TOGARAM1	Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: TOGARAM1. Tag Q1_25_ promote_green tag was added to gene: TOGARAM1.
21 Feb 2025	Fetal anomalies v5.74	ASXL3	Achchuthan Shanmugasundram Phenotypes for gene: ASXL3 were changed from Bainbridge-Ropers syndrome, OMIM:615485; Arthrogryposis to Bainbridge-Ropers syndrome, OMIM:615485
20 Feb 2025	Fetal anomalies v5.72	WASHC5	Achchuthan Shanmugasundram Phenotypes for gene: WASHC5 were changed from Ritscher-Schinzel syndrome 1 220210; Ritscher-Schinzel syndrome 1, OMIM:220210; Spastic paraplegia 8, autosomal dominant 603563 to Ritscher-Schinzel syndrome 1, OMIM:220210
20 Feb 2025	Fetal anomalies v5.70	TTC25	Achchuthan Shanmugasundram Phenotypes for gene: TTC25 were changed from Ciliary dyskinesia, primary, 35, OMIM:617092; Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization to Ciliary dyskinesia, primary, 35, OMIM:617092
20 Feb 2025	Fetal anomalies v5.69	TOGARAM1	Achchuthan Shanmugasundram Phenotypes for gene: TOGARAM1 were changed from Joubert syndrome 37, OMIM:619185; Cleft of the lip and palate; Hydrocephalus; Microphthalmia; Cerebral dysgenesis to Joubert syndrome 37, OMIM:619185
20 Feb 2025	Fetal anomalies v5.68	TNFRSF13B	Achchuthan Shanmugasundram Phenotypes for gene: TNFRSF13B were changed from Immunodeficiency, common variable, 2, OMIM:240500; IMMUNODEFICIENCY, COMMON VARIABLE, 2 to Immunodeficiency, common variable, 2, OMIM:240500
20 Feb 2025	Fetal anomalies v5.58	SLC25A4	Achchuthan Shanmugasundram Phenotypes for gene: SLC25A4 were changed from Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM:617184 to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM:617184
20 Feb 2025	Fetal anomalies v5.55	SASS6	Achchuthan Shanmugasundram Phenotypes for gene: SASS6 were changed from Microcephaly 14, primary, autosomal recessive, OMIM:616402; ?Microcephaly 14, primary, autosomal recessive 616402 to Microcephaly 14, primary, autosomal recessive, OMIM:616402
20 Feb 2025	Fetal anomalies v5.50	LRBA	Achchuthan Shanmugasundram Phenotypes for gene: LRBA were changed from Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700; CHILDHOOD-ONSET HYPOGAMMAGLOBULINEMIA to Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700
20 Feb 2025	Fetal anomalies v5.46	LIPN	Achchuthan Shanmugasundram Phenotypes for gene: LIPN were changed from ICHTHYOSIS, LAMELLAR, 4; Ichthyosis, congenital, autosomal recessive 8, OMIM:613943 to Ichthyosis, congenital, autosomal recessive 8, OMIM:613943
20 Feb 2025	Fetal anomalies v5.45	KCNT1	Achchuthan Shanmugasundram Phenotypes for gene: KCNT1 were changed from SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY; MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY; Developmental and epileptic encephalopathy 14, OMIM:614959 to Developmental and epileptic encephalopathy 14, OMIM:614959
20 Feb 2025	Fetal anomalies v5.43	KCNC3	Achchuthan Shanmugasundram Phenotypes for gene: KCNC3 were changed from Spinocerebellar ataxia 13, OMIM:605259; SPINOCEREBELLAR ATAXIA TYPE 13 to Spinocerebellar ataxia 13, OMIM:605259
20 Feb 2025	Fetal anomalies v5.41	INPP5K	Achchuthan Shanmugasundram Phenotypes for gene: INPP5K were changed from Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404; Muscular dystrophy, congenital, with cataracts and intellectual disability to Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404
20 Feb 2025	Fetal anomalies v5.40	GPAA1	Achchuthan Shanmugasundram Phenotypes for gene: GPAA1 were changed from Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia; Glycosylphosphatidylinositol biosynthesis defect 15, OMIM:617810 to Glycosylphosphatidylinositol biosynthesis defect 15, OMIM:617810
20 Feb 2025	Fetal anomalies v5.39	GNAQ	Achchuthan Shanmugasundram Phenotypes for gene: GNAQ were changed from Sturge-Weber syndrome, somatic, mosaic, OMIM:185300; Congenital Hemangioma; Capillary malformations, congenital, 1, somatic, mosaic, OMIM:163000 to Sturge-Weber syndrome, somatic, mosaic, OMIM:185300; Capillary malformations, congenital, 1, somatic, mosaic, OMIM:163000
20 Feb 2025	Fetal anomalies v5.36	GDF2	Achchuthan Shanmugasundram Phenotypes for gene: GDF2 were changed from hydrops; Lymphatic dysplasia; Telangiectasia, hereditary hemorrhagic, type 5, OMIM:615506; hydrothorax to Telangiectasia, hereditary hemorrhagic, type 5, OMIM:615506
20 Feb 2025	Fetal anomalies v5.34	FTO	Achchuthan Shanmugasundram Phenotypes for gene: FTO were changed from Growth retardation, developmental delay, facial dysmorphism; Growth retardation, developmental delay, facial dysmorphism, OMIM: 612938 to Growth retardation, developmental delay, facial dysmorphism, OMIM: 612938
20 Feb 2025	Fetal anomalies v5.32	DRC1	Achchuthan Shanmugasundram Phenotypes for gene: DRC1 were changed from Ciliary dyskinesia, primary, 21, OMIM:615294; PRIMARY CILARY DYSKINEASIA to Ciliary dyskinesia, primary, 21, OMIM:615294
20 Feb 2025	Fetal anomalies v5.30	DHX30	Achchuthan Shanmugasundram Phenotypes for gene: DHX30 were changed from Neurodevelopmental Disorder; Neurodevelopmental disorder with variable motor and speech impairment, OMIM:617804 to Neurodevelopmental disorder with variable motor and speech impairment, OMIM:617804
20 Feb 2025	Fetal anomalies v5.22	CAMTA1	Achchuthan Shanmugasundram Phenotypes for gene: CAMTA1 were changed from Cerebellar dysfunction with variable cognitive and behavioral abnormalities, OMIM:614756; CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION to Cerebellar dysfunction with variable cognitive and behavioral abnormalities, OMIM:614756
20 Feb 2025	Fetal anomalies v5.20	CACNA1S	Achchuthan Shanmugasundram Phenotypes for gene: CACNA1S were changed from Congenital myopathy 18 due to dihydropyridine receptor defect, OMIM:620246; Congenital myopathy; arthrogryposis to Congenital myopathy 18 due to dihydropyridine receptor defect, OMIM:620246
20 Feb 2025	Fetal anomalies v5.16	TOGARAM1	Achchuthan Shanmugasundram commented on gene: TOGARAM1
20 Feb 2025	Fetal anomalies v5.16	RAP1B	Achchuthan Shanmugasundram commented on gene: RAP1B: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
20 Feb 2025	Fetal anomalies v5.16	NLRP3	Achchuthan Shanmugasundram commented on gene: NLRP3: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
20 Feb 2025	Fetal anomalies v5.16	NARS	Achchuthan Shanmugasundram commented on gene: NARS
20 Feb 2025	Fetal anomalies v5.16	MDFIC	Achchuthan Shanmugasundram commented on gene: MDFIC: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
20 Feb 2025	Fetal anomalies v5.16	KCNT1	Achchuthan Shanmugasundram commented on gene: KCNT1: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
20 Feb 2025	Fetal anomalies v5.16	KCNK9	Achchuthan Shanmugasundram commented on gene: KCNK9: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
20 Feb 2025	Fetal anomalies v5.16	GNB2	Achchuthan Shanmugasundram commented on gene: GNB2: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
20 Feb 2025	Fetal anomalies v5.16	ESAM	Achchuthan Shanmugasundram commented on gene: ESAM: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
20 Feb 2025	Fetal anomalies v5.16	DRC1	Achchuthan Shanmugasundram commented on gene: DRC1: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
20 Feb 2025	Fetal anomalies v5.16	DPYSL5	Achchuthan Shanmugasundram commented on gene: DPYSL5: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
20 Feb 2025	Fetal anomalies v5.16	DOHH	Achchuthan Shanmugasundram commented on gene: DOHH: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
20 Feb 2025	Fetal anomalies v5.16	DLX3	Achchuthan Shanmugasundram commented on gene: DLX3: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
20 Feb 2025	Fetal anomalies v5.16	DLG5	Achchuthan Shanmugasundram commented on gene: DLG5: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
20 Feb 2025	Fetal anomalies v5.16	DLG4	Achchuthan Shanmugasundram commented on gene: DLG4: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
20 Feb 2025	Fetal anomalies v5.16	DHX30	Achchuthan Shanmugasundram commented on gene: DHX30: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
20 Feb 2025	Fetal anomalies v5.16	DDRGK1	Achchuthan Shanmugasundram commented on gene: DDRGK1: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
20 Feb 2025	Fetal anomalies v5.16	DCDC2	Achchuthan Shanmugasundram commented on gene: DCDC2: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
20 Feb 2025	Fetal anomalies v5.16	DAW1	Achchuthan Shanmugasundram commented on gene: DAW1: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
20 Feb 2025	Fetal anomalies v5.16	CYP2R1	Achchuthan Shanmugasundram commented on gene: CYP2R1: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
20 Feb 2025	Fetal anomalies v5.16	CYP27B1	Achchuthan Shanmugasundram commented on gene: CYP27B1: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
20 Feb 2025	Fetal anomalies v5.16	CYB5R3	Achchuthan Shanmugasundram commented on gene: CYB5R3: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
20 Feb 2025	Fetal anomalies v5.16	CLCN5	Achchuthan Shanmugasundram commented on gene: CLCN5: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
20 Feb 2025	Fetal anomalies v5.16	CACHD1	Achchuthan Shanmugasundram commented on gene: CACHD1: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
20 Feb 2025	Fetal anomalies v5.16	ARV1	Achchuthan Shanmugasundram commented on gene: ARV1: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
20 Feb 2025	Fetal anomalies v5.15	UQCC2	Sarah Graham reviewed gene: UQCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 24385928, 28804536; Phenotypes: Mitochondrial complex III deficiency, nuclear type 7, MIM#615824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	TULP3	Sarah Graham reviewed gene: TULP3: Rating: RED; Mode of pathogenicity: ; Publications: 36276950, 30799239, 36460032, 30799240, 35397207; Phenotypes: Hepatorenocardiac degenerative fibrosis, MIM #619902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	TTC25	Samantha Doyle reviewed gene: TTC25: Rating: AMBER; Mode of pathogenicity: ; Publications: 27486780, 31765523, 34215651, 33746037, 33715250; Phenotypes: Ciliary dyskinesia, primary, 35, MIM#617092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	TSHZ3	Sarah Graham reviewed gene: TSHZ3: Rating: GREEN; Mode of pathogenicity: ; Publications: 39420202, 34919690, 36553458; Phenotypes: Congenital anomaly of kidney and urinary tract; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Feb 2025	Fetal anomalies v5.15	TRPM7	Sarah Graham reviewed gene: TRPM7: Rating: RED; Mode of pathogenicity: ; Publications: 31423533, 39621058, 35561741, 39099563, 35712613; Phenotypes: Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to, MIM#105500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Feb 2025	Fetal anomalies v5.15	TOMM7	Sarah Graham reviewed gene: TOMM7: Rating: AMBER; Mode of pathogenicity: ; Publications: 36299998, 36282599; Phenotypes: Garg-Mishra progeroid syndrome, MIM#620601; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	TOGARAM1	Sarah Graham reviewed gene: TOGARAM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32453716, 32747439; Phenotypes: Joubert syndrome 37, MIM#619185; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	TNFRSF13B	Sunayna Best reviewed gene: TNFRSF13B: Rating: RED; Mode of pathogenicity: ; Publications: 16007087, 16007086; Phenotypes: Immunodeficiency, common variable, 2, MIM#240500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	SPIN4	Sunayna Best reviewed gene: SPIN4: Rating: AMBER; Mode of pathogenicity: ; Publications: 36927955; Phenotypes: Lui-Jee-Baron syndrome, MIM#301114; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2025	Fetal anomalies v5.15	SNUPN	Sunayna Best reviewed gene: SNUPN: Rating: AMBER; Mode of pathogenicity: ; Publications: 38413582, 38366623; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM#620793; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	SLCO2A1	Stephanie Allen reviewed gene: SLCO2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: PHOAR2-enteropathy syndrome, MIM#614441, Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM#167100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	SLC4A10	Stephanie Allen reviewed gene: SLC4A10: Rating: GREEN; Mode of pathogenicity: ; Publications: 31130284, 37459438, 38054405; Phenotypes: Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM#620746; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	SLC25A4	Stephanie Allen reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 27693233, 30013777; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Feb 2025	Fetal anomalies v5.15	SIAH1	Esther Kinning reviewed gene: SIAH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32430360; Phenotypes: Buratti-Harel syndrome, MIM#619314; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Feb 2025	Fetal anomalies v5.15	SGMS2	Stephanie Allen reviewed gene: SGMS2: Rating: RED; Mode of pathogenicity: ; Publications: 30779713, 32028018; Phenotypes: Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia, MIM#126550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Feb 2025	Fetal anomalies v5.15	SCYL2	Soo-Mi Park reviewed gene: SCYL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 39138116, 39169672; Phenotypes: Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM#618766; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	SASS6	Soo-Mi Park reviewed gene: SASS6: Rating: GREEN; Mode of pathogenicity: ; Publications: 38501757, 24951542, 30639237, 36739862; Phenotypes: Microcephaly 14, primary, autosomal recessive, MIM#616402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	RRAS	Soo-Mi Park reviewed gene: RRAS: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 24705357, 32815881, 34935735; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2025	Fetal anomalies v5.15	RAP1B	Soo-Mi Park reviewed gene: RAP1B: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 37850357, 35451551, 32627184; Phenotypes: Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, MIM#620654; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Feb 2025	Fetal anomalies v5.15	PLS3	Sarah Graham reviewed gene: PLS3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 24088043, 37751738, 29736964, 25209159, 32655496, 28777485, 29884797; Phenotypes: Diaphragmatic hernia 5, X-linked, MIM#306950; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Feb 2025	Fetal anomalies v5.15	PLD1	Sarah Graham reviewed gene: PLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33645542, 27799408; Phenotypes: Cardiac valvular dysplasia 1, MIM#212093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	PISD	Sarah Graham reviewed gene: PISD: Rating: AMBER; Mode of pathogenicity: ; Publications: 31263216, 30858161, 30488656, 3561949; Phenotypes: Liberfarb syndrome, MIM#618889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	PIGG	Sarah Graham reviewed gene: PIGG: Rating: AMBER; Mode of pathogenicity: ; Publications: 34113002, 26996948; Phenotypes: Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, MIM#616917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	NARS	Samantha Doyle reviewed gene: NARS: Rating: RED; Mode of pathogenicity: ; Publications: 32738225, 32788587; Phenotypes: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, MIM#619091, Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant, MIM#619092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	MMP2	Samantha Doyle reviewed gene: MMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 16542393; Phenotypes: Multicentric osteolysis, nodulosis, and arthropathy, MIM#259600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	MMP15	Samantha Doyle reviewed gene: MMP15: Rating: AMBER; Mode of pathogenicity: ; Publications: 34988996, 33875846; Phenotypes: Cholestasis, congenital heart disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	LSM11	Natalie Bibb reviewed gene: LSM11: Rating: AMBER; Mode of pathogenicity: ; Publications: 33230297; Phenotypes: Aicardi-Goutieres syndrome 8, MIM#619486; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	LRBA	Sahar Mansour reviewed gene: LRBA: Rating: RED; Mode of pathogenicity: ; Publications: 25468195, 22721650, 22608502, 22981790, 26206937; Phenotypes: Immunodeficiency, common variable, 8, with autoimmunity, MIM#614700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	KDR	Esther Kinning reviewed gene: KDR: Rating: AMBER; Mode of pathogenicity: ; Publications: 30232381, 34113005, 28991257; Phenotypes: Hemangioma, capillary infantile, somatic, MIM#602089; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Feb 2025	Fetal anomalies v5.15	KCNT1	Natalie Chandler reviewed gene: KCNT1: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 36307859; Phenotypes: Developmental and epileptic encephalopathy 14, MIM#614959; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Feb 2025	Fetal anomalies v5.15	KCNN3	Natalie Chandler reviewed gene: KCNN3: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 33594261, 31155282; Phenotypes: Zimmermann-Laband syndrome 3, MIM#618658; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Feb 2025	Fetal anomalies v5.15	KCNK9	Natalie Chandler reviewed gene: KCNK9: Rating: AMBER; Mode of pathogenicity: ; Publications: 36307859; Phenotypes: Birk-Barel syndrome, MIM#612292; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
20 Feb 2025	Fetal anomalies v5.15	KCNK3	Natalie Chandler reviewed gene: KCNK3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 36195757; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, KCNK3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Feb 2025	Fetal anomalies v5.15	KCNJ6	Natalie Chandler reviewed gene: KCNJ6: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 34964963, 25620207, 36071510, 29852244; Phenotypes: Keppen-Lubinsky syndrome, MIM#614098; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Feb 2025	Fetal anomalies v5.15	KCNC3	Natalie Canham reviewed gene: KCNC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20301404; Phenotypes: Spinocerebellar ataxia 13, MIM#605259; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Feb 2025	Fetal anomalies v5.15	INTS11	Natalie Canham reviewed gene: INTS11: Rating: GREEN; Mode of pathogenicity: ; Publications: 39030370, 37054711; Phenotypes: Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, MIM#620428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	INPP5K	Natalie Canham reviewed gene: INPP5K: Rating: AMBER; Mode of pathogenicity: ; Publications: 33193651, 31630891, 28940338, 28190459, 28190456; Phenotypes: Muscular dystrophy, congenital, with cataracts and intellectual disability, MIM#617404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	IDH2	Natalie Canham reviewed gene: IDH2: Rating: RED; Mode of pathogenicity: ; Publications: 20847235, 38782764; Phenotypes: D-2-hydroxyglutaric aciduria 2, MIM#613657; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2025	Fetal anomalies v5.15	HECTD4	Natalie Canham reviewed gene: HECTD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 36401616; Phenotypes: Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM#620250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	GTPBP1	Natalie Canham reviewed gene: GTPBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 38118446; Phenotypes: Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, MIM#620888; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	GNAQ	Natalie Canham reviewed gene: GNAQ: Rating: RED; Mode of pathogenicity: ; Publications: 37606556, 23656586, 36263782; Phenotypes: Capillary malformations, congenital, 1, somatic, mosaic, MIM#163000, Sturge-Weber syndrome, somatic, mosaic, MIM#185300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2025	Fetal anomalies v5.15	GNA14	Natalie Bibb reviewed gene: GNA14: Rating: AMBER; Mode of pathogenicity: ; Publications: 38917801; Phenotypes: Congenital vascular tumours; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2025	Fetal anomalies v5.15	GDF2	Natalie Bibb reviewed gene: GDF2: Rating: AMBER; Mode of pathogenicity: ; Publications: 32618121; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 5, MIM#615506; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Feb 2025	Fetal anomalies v5.15	FTO	Natalie Bibb reviewed gene: FTO: Rating: GREEN; Mode of pathogenicity: ; Publications: 19559399, 19234441, 26697951, 26378117, 26740239; Phenotypes: Growth retardation, developmental delay, facial dysmorphism, MIM#612938; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	FLCN	Anna de Burca reviewed gene: FLCN: Rating: RED; Mode of pathogenicity: ; Publications: 19785621, 31266032; Phenotypes: Pneumothorax, primary spontaneous, MIM#173600, Birt-Hogg-Dube syndrome, MIM#135150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Feb 2025	Fetal anomalies v5.15	FILIP1	Anna de Burca reviewed gene: FILIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36943452, 37163662; Phenotypes: Neuromuscular disorder, congenital, with dysmorphic facies, MIM#620775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	FGF16	Sarah Graham reviewed gene: FGF16: Rating: AMBER; Mode of pathogenicity: ; Publications: 24706454, 23709756, 25333065; Phenotypes: Metacarpal 4-5 fusion, MIM#309630; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Feb 2025	Fetal anomalies v5.15	ENG	Natalie Chandler reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: ; Publications: 36588762, 15520401, 32954511; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 1, MIM#187300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Feb 2025	Fetal anomalies v5.15	EMILIN1	Natalie Chandler reviewed gene: EMILIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 36351433, 14701737; Phenotypes: Arterial tortuosity-bone fragility syndrome, MIM#620908; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	EFCAB1	Elizabeth Scotchman reviewed gene: EFCAB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36727596; Phenotypes: Ciliary dyskinesia, primary, 53, MIM#620642; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	DRC1	Achchuthan Shanmugasundram reviewed gene: DRC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39462806, 34851034, 39152285; Phenotypes: Ciliary dyskinesia, primary, 21, MIM#615294; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	DHX30	Achchuthan Shanmugasundram reviewed gene: DHX30: Rating: GREEN; Mode of pathogenicity: ; Publications: 38366977, 34145223, 34180050, 34020708, 37094863, 36643085; Phenotypes: Neurodevelopmental disorder with variable motor and language impairment, MIM#617804; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Feb 2025	Fetal anomalies v5.15	DAW1	Achchuthan Shanmugasundram reviewed gene: DAW1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36074124, 28991257; Phenotypes: Ciliary dyskinesia, primary, 52, MIM#620570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	COPB2	Elizabeth Scotchman reviewed gene: COPB2: Rating: AMBER; Mode of pathogenicity: ; Publications: 34450031, 29036432; Phenotypes: Microcephaly 19, primary, autosomal recessive, MIM#617800, Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM#619884; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	CNOT2	Elizabeth Scotchman reviewed gene: CNOT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31145527, 28135719, 31512373; Phenotypes: Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies, MIM#618608; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Feb 2025	Fetal anomalies v5.15	CDH2	Anna de Burca reviewed gene: CDH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31585109, 31650526; Phenotypes: Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM#618929; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
20 Feb 2025	Fetal anomalies v5.15	CBY1	Anna de Burca reviewed gene: CBY1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33131181, 25103236, 25220153; Phenotypes: cerebellar ataxia, molar tooth sign, Joubert syndrome, Intellectual disability, polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	CASP2	Anna de Burca reviewed gene: CASP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 37880421; Phenotypes: Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, MIM#620653; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	CAMTA1	Anna de Burca reviewed gene: CAMTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: 38044714; Phenotypes: Cerebellar dysfunction with variable cognitive and behavioral abnormalities, MIM#614756; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Feb 2025	Fetal anomalies v5.15	ATG7	Esther Kinning reviewed gene: ATG7: Rating: GREEN; Mode of pathogenicity: ; Publications: 34161705, 16625205, 17726112; Phenotypes: Spinocerebellar ataxia, autosomal recessive 31, MIM#619422; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	ARV1	Alice Gardham reviewed gene: ARV1: Rating: AMBER; Mode of pathogenicity: ; Publications: 36307859, 34296759; Phenotypes: Developmental and epileptic encephalopathy 38, MIM#617020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.15	AMOTL1	Alice Gardham reviewed gene: AMOTL1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 36751037; Phenotypes: Orofacial clefting syndrome, MONDO:0015335, AMOTL1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
20 Feb 2025	Fetal anomalies v5.15	ADAMTS15	Alice Gardham reviewed gene: ADAMTS15: Rating: GREEN; Mode of pathogenicity: ; Publications: 35962790; Phenotypes: Arthrogryposis, distal, type 12, MIM#620545; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
20 Feb 2025	Fetal anomalies v5.13	TULP3	Achchuthan Shanmugasundram gene: TULP3 was added gene: TULP3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: TULP3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TULP3 were set to 30799240; 36276950; 36460032; 35397207; 30799239 Phenotypes for gene: TULP3 were set to Hepatorenocardiac degenerative fibrosis, OMIM:619902
20 Feb 2025	Fetal anomalies v5.13	TTC25	Achchuthan Shanmugasundram Source NHS GMS was added to TTC25. Added phenotypes Ciliary dyskinesia, primary, 35, OMIM:617092 for gene: TTC25 Publications for gene: TTC25 were updated from to 33746037; 34215651; 33715250; 31765523; 27486780
20 Feb 2025	Fetal anomalies v5.13	TSHZ3	Achchuthan Shanmugasundram gene: TSHZ3 was added gene: TSHZ3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: TSHZ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TSHZ3 were set to 36553458; 34919690; 39420202 Phenotypes for gene: TSHZ3 were set to Congenital anomaly of kidney and urinary tract
20 Feb 2025	Fetal anomalies v5.13	TRPM7	Achchuthan Shanmugasundram Source NHS GMS was added to TRPM7. Source Expert Review Red was added to TRPM7. Added phenotypes Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to, OMIM:105500 for gene: TRPM7 Publications for gene: TRPM7 were updated from 32503408; 31423533 to 39099563; 39621058; 35712613; 35561741; 31423533; 32503408 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
20 Feb 2025	Fetal anomalies v5.13	TOMM7	Achchuthan Shanmugasundram gene: TOMM7 was added gene: TOMM7 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: TOMM7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOMM7 were set to 36282599; 36299998 Phenotypes for gene: TOMM7 were set to Garg-Mishra progeroid syndrome, OMIM:620601
20 Feb 2025	Fetal anomalies v5.13	TOGARAM1	Achchuthan Shanmugasundram Source NHS GMS was added to TOGARAM1. Source Expert Review Amber was added to TOGARAM1. Added phenotypes Joubert syndrome 37, OMIM:619185 for gene: TOGARAM1 Publications for gene: TOGARAM1 were updated from 32747439 to 32453716; 32747439 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
20 Feb 2025	Fetal anomalies v5.13	TNFRSF13B	Achchuthan Shanmugasundram Source NHS GMS was added to TNFRSF13B. Source Expert Review Red was added to TNFRSF13B. Mode of inheritance for gene TNFRSF13B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Immunodeficiency, common variable, 2, OMIM:240500 for gene: TNFRSF13B Publications for gene: TNFRSF13B were updated from to 16007087; 16007086 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
20 Feb 2025	Fetal anomalies v5.13	SPIN4	Achchuthan Shanmugasundram gene: SPIN4 was added gene: SPIN4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SPIN4 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: SPIN4 were set to 36927955 Phenotypes for gene: SPIN4 were set to ?Lui-Jee-Baron syndrome, OMIM:301114
20 Feb 2025	Fetal anomalies v5.13	SNUPN	Achchuthan Shanmugasundram gene: SNUPN was added gene: SNUPN was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SNUPN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SNUPN were set to 38413582; 38366623 Phenotypes for gene: SNUPN were set to Muscular dystrophy, limb-girdle, autosomal recessive 29, OMIM:620793
20 Feb 2025	Fetal anomalies v5.13	SLCO2A1	Achchuthan Shanmugasundram gene: SLCO2A1 was added gene: SLCO2A1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: SLCO2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SLCO2A1 were set to Hypertrophic osteoarthropathy, primary, autosomal dominant, OMIM:167100; PHOAR2-enteropathy syndrome, OMIM:614441
20 Feb 2025	Fetal anomalies v5.13	SLC4A10	Achchuthan Shanmugasundram gene: SLC4A10 was added gene: SLC4A10 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC4A10 were set to 38054405; 37459438; 31130284 Phenotypes for gene: SLC4A10 were set to Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746
20 Feb 2025	Fetal anomalies v5.13	SLC25A4	Achchuthan Shanmugasundram Source NHS GMS was added to SLC25A4. Mode of inheritance for gene SLC25A4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM:617184 for gene: SLC25A4 Publications for gene: SLC25A4 were updated from to 27693233; 30013777
20 Feb 2025	Fetal anomalies v5.13	SIAH1	Achchuthan Shanmugasundram gene: SIAH1 was added gene: SIAH1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SIAH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SIAH1 were set to 32430360 Phenotypes for gene: SIAH1 were set to Buratti-Harel syndrome, OMIM:619314
20 Feb 2025	Fetal anomalies v5.13	SGMS2	Achchuthan Shanmugasundram gene: SGMS2 was added gene: SGMS2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: SGMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SGMS2 were set to 32028018; 30779713 Phenotypes for gene: SGMS2 were set to Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia, OMIM:126550
20 Feb 2025	Fetal anomalies v5.13	SCYL2	Achchuthan Shanmugasundram gene: SCYL2 was added gene: SCYL2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: SCYL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCYL2 were set to 39138116; 39169672 Phenotypes for gene: SCYL2 were set to Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, OMIM:618766
20 Feb 2025	Fetal anomalies v5.13	SASS6	Achchuthan Shanmugasundram Source NHS GMS was added to SASS6. Added phenotypes Microcephaly 14, primary, autosomal recessive, OMIM:616402 for gene: SASS6 Publications for gene: SASS6 were updated from 24951542 to 38501757; 24951542; 30639237; 36739862
20 Feb 2025	Fetal anomalies v5.13	RRAS	Achchuthan Shanmugasundram Source NHS GMS was added to RRAS. Mode of pathogenicity for gene RRAS was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Noonan syndrome, MONDO:0018997 for gene: RRAS Publications for gene: RRAS were updated from 24705357; 32815881; 34935735 to 34935735; 32815881; 24705357
20 Feb 2025	Fetal anomalies v5.13	RAP1B	Achchuthan Shanmugasundram Source Expert Review Amber was added to RAP1B. Mode of pathogenicity for gene RAP1B was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Publications for gene: RAP1B were updated from 26280580; 32627184 to 35451551; 37850357; 26280580; 32627184 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
20 Feb 2025	Fetal anomalies v5.13	PLS3	Achchuthan Shanmugasundram gene: PLS3 was added gene: PLS3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PLS3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PLS3 were set to 32655496; 28777485; 29736964; 37751738; 25209159; 29884797; 24088043 Phenotypes for gene: PLS3 were set to Diaphragmatic hernia 5, X-linked, OMIM:306950 Mode of pathogenicity for gene: PLS3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
20 Feb 2025	Fetal anomalies v5.13	PISD	Achchuthan Shanmugasundram gene: PISD was added gene: PISD was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PISD were set to 30488656; 3561949; 30858161; 31263216 Phenotypes for gene: PISD were set to Liberfarb syndrome, OMIM:618889
20 Feb 2025	Fetal anomalies v5.13	PIGG	Achchuthan Shanmugasundram Source NHS GMS was added to PIGG. Added phenotypes Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, OMIM:616917 for gene: PIGG Publications for gene: PIGG were updated from to 26996948; 34113002
20 Feb 2025	Fetal anomalies v5.13	NARS	Achchuthan Shanmugasundram gene: NARS was added gene: NARS was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: NARS were set to 32738225; 32788587 Phenotypes for gene: NARS were set to Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, OMIM:619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant, OMIM:619092
20 Feb 2025	Fetal anomalies v5.13	MMP2	Achchuthan Shanmugasundram gene: MMP2 was added gene: MMP2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: MMP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMP2 were set to 16542393 Phenotypes for gene: MMP2 were set to Multicentric osteolysis, nodulosis, and arthropathy, OMIM:259600
20 Feb 2025	Fetal anomalies v5.13	LSM11	Achchuthan Shanmugasundram gene: LSM11 was added gene: LSM11 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LSM11 were set to 33230297 Phenotypes for gene: LSM11 were set to ?Aicardi-Goutieres syndrome 8, OMIM:619486
20 Feb 2025	Fetal anomalies v5.13	LRBA	Achchuthan Shanmugasundram Source NHS GMS was added to LRBA. Source Expert Review Red was added to LRBA. Added phenotypes Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700 for gene: LRBA Publications for gene: LRBA were updated from to 22721650; 22981790; 25468195; 26206937; 22608502 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
20 Feb 2025	Fetal anomalies v5.13	KDR	Achchuthan Shanmugasundram gene: KDR was added gene: KDR was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: KDR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KDR were set to 28991257; 34113005; 30232381 Phenotypes for gene: KDR were set to Hemangioma, capillary infantile, somatic, OMIM:602089
20 Feb 2025	Fetal anomalies v5.13	KCNT1	Achchuthan Shanmugasundram Source NHS GMS was added to KCNT1. Mode of pathogenicity for gene KCNT1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Developmental and epileptic encephalopathy 14, OMIM:614959 for gene: KCNT1 Publications for gene: KCNT1 were updated from to 36307859
20 Feb 2025	Fetal anomalies v5.13	KCNN3	Achchuthan Shanmugasundram gene: KCNN3 was added gene: KCNN3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNN3 were set to 31155282; 33594261 Phenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome 3, OMIM:618658 Mode of pathogenicity for gene: KCNN3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
20 Feb 2025	Fetal anomalies v5.13	KCNK3	Achchuthan Shanmugasundram gene: KCNK3 was added gene: KCNK3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KCNK3 were set to 36195757 Phenotypes for gene: KCNK3 were set to Neurodevelopmental disorder, MONDO:0700092, KCNK3-related Mode of pathogenicity for gene: KCNK3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
20 Feb 2025	Fetal anomalies v5.13	KCNJ6	Achchuthan Shanmugasundram Source NHS GMS was added to KCNJ6. Source Expert Review Red was added to KCNJ6. Mode of inheritance for gene KCNJ6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mode of pathogenicity for gene KCNJ6 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Added phenotypes Keppen-Lubinsky syndrome, OMIM:614098 for gene: KCNJ6 Publications for gene: KCNJ6 were updated from to 34964963; 36071510; 25620207; 29852244 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
20 Feb 2025	Fetal anomalies v5.13	KCNC3	Achchuthan Shanmugasundram Source NHS GMS was added to KCNC3. Mode of inheritance for gene KCNC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Spinocerebellar ataxia 13, OMIM:605259 for gene: KCNC3 Publications for gene: KCNC3 were updated from to 20301404
20 Feb 2025	Fetal anomalies v5.13	INTS11	Achchuthan Shanmugasundram gene: INTS11 was added gene: INTS11 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: INTS11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS11 were set to 37054711; 39030370 Phenotypes for gene: INTS11 were set to Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428
20 Feb 2025	Fetal anomalies v5.13	INPP5K	Achchuthan Shanmugasundram Source NHS GMS was added to INPP5K. Added phenotypes Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404 for gene: INPP5K Publications for gene: INPP5K were updated from to 28190456; 33193651; 28940338; 28190459; 31630891
20 Feb 2025	Fetal anomalies v5.13	IDH2	Achchuthan Shanmugasundram gene: IDH2 was added gene: IDH2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IDH2 were set to 20847235; 38782764 Phenotypes for gene: IDH2 were set to D-2-hydroxyglutaric aciduria 2, OMIM:613657
20 Feb 2025	Fetal anomalies v5.13	HECTD4	Achchuthan Shanmugasundram gene: HECTD4 was added gene: HECTD4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HECTD4 were set to 36401616 Phenotypes for gene: HECTD4 were set to Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250
20 Feb 2025	Fetal anomalies v5.13	GTPBP1	Achchuthan Shanmugasundram gene: GTPBP1 was added gene: GTPBP1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: GTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTPBP1 were set to 38118446 Phenotypes for gene: GTPBP1 were set to Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, OMIM:620888
20 Feb 2025	Fetal anomalies v5.13	GNAQ	Achchuthan Shanmugasundram Source NHS GMS was added to GNAQ. Source Expert Review Red was added to GNAQ. Added phenotypes Sturge-Weber syndrome, somatic, mosaic, OMIM:185300; Capillary malformations, congenital, 1, somatic, mosaic, OMIM:163000 for gene: GNAQ Publications for gene: GNAQ were updated from to 23656586; 37606556; 36263782 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
20 Feb 2025	Fetal anomalies v5.13	GDF2	Achchuthan Shanmugasundram Source NHS GMS was added to GDF2. Source Expert Review Amber was added to GDF2. Mode of inheritance for gene GDF2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Telangiectasia, hereditary hemorrhagic, type 5, OMIM:615506 for gene: GDF2 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
20 Feb 2025	Fetal anomalies v5.13	FTO	Achchuthan Shanmugasundram Source NHS GMS was added to FTO. Added phenotypes Growth retardation, developmental delay, facial dysmorphism, OMIM: 612938 for gene: FTO Publications for gene: FTO were updated from 19559399; 26378117; 31130284 to 19234441; 26697951; 26378117; 19559399; 26740239; 31130284
20 Feb 2025	Fetal anomalies v5.13	FLCN	Achchuthan Shanmugasundram gene: FLCN was added gene: FLCN was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FLCN were set to 19785621; 31266032 Phenotypes for gene: FLCN were set to Birt-Hogg-Dube syndrome, 135150; Pneumothorax, primary spontaneous, OMIM:173600
20 Feb 2025	Fetal anomalies v5.13	FILIP1	Achchuthan Shanmugasundram gene: FILIP1 was added gene: FILIP1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: FILIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FILIP1 were set to 36943452; 37163662 Phenotypes for gene: FILIP1 were set to Neuromuscular disorder, congenital, with dysmorphic facies, OMIM:620775
20 Feb 2025	Fetal anomalies v5.13	FGF16	Achchuthan Shanmugasundram gene: FGF16 was added gene: FGF16 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: FGF16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: FGF16 were set to 25333065; 24706454; 23709756 Phenotypes for gene: FGF16 were set to Metacarpal 4-5 fusion, OMIM:309630
20 Feb 2025	Fetal anomalies v5.13	EMILIN1	Achchuthan Shanmugasundram gene: EMILIN1 was added gene: EMILIN1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: EMILIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EMILIN1 were set to 14701737; 36351433 Phenotypes for gene: EMILIN1 were set to Arterial tortuosity-bone fragility syndrome, OMIM:620908
20 Feb 2025	Fetal anomalies v5.13	EFCAB1	Achchuthan Shanmugasundram gene: EFCAB1 was added gene: EFCAB1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: EFCAB1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EFCAB1 were set to 36727596 Phenotypes for gene: EFCAB1 were set to Ciliary dyskinesia, primary, 53, OMIM:620642
20 Feb 2025	Fetal anomalies v5.13	DRC1	Achchuthan Shanmugasundram Source NHS GMS was added to DRC1. Added phenotypes Ciliary dyskinesia, primary, 21, OMIM:615294 for gene: DRC1 Publications for gene: DRC1 were updated from to 39152285; 39462806; 34851034
20 Feb 2025	Fetal anomalies v5.13	DHX30	Achchuthan Shanmugasundram Source NHS GMS was added to DHX30. Mode of inheritance for gene DHX30 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Neurodevelopmental disorder with variable motor and speech impairment, OMIM:617804 for gene: DHX30 Publications for gene: DHX30 were updated from to 34020708; 38366977; 34145223; 34180050; 37094863; 36643085
20 Feb 2025	Fetal anomalies v5.13	DAW1	Achchuthan Shanmugasundram gene: DAW1 was added gene: DAW1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DAW1 were set to 36074124; 28991257 Phenotypes for gene: DAW1 were set to Ciliary dyskinesia, primary, 52, OMIM:620570
20 Feb 2025	Fetal anomalies v5.13	COPB2	Achchuthan Shanmugasundram gene: COPB2 was added gene: COPB2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: COPB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COPB2 were set to 34450031; 29036432 Phenotypes for gene: COPB2 were set to ?Microcephaly 19, primary, autosomal recessive, OMIM:617800; Osteoporosis, childhood- or juvenile-onset, with developmental delay, OMIM:619884
20 Feb 2025	Fetal anomalies v5.13	CNOT2	Achchuthan Shanmugasundram gene: CNOT2 was added gene: CNOT2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CNOT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CNOT2 were set to 31512373; 31145527; 28135719 Phenotypes for gene: CNOT2 were set to Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies, OMIM:618608
20 Feb 2025	Fetal anomalies v5.13	CDH2	Achchuthan Shanmugasundram gene: CDH2 was added gene: CDH2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDH2 were set to 31650526; 31585109 Phenotypes for gene: CDH2 were set to Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929
20 Feb 2025	Fetal anomalies v5.13	CBY1	Achchuthan Shanmugasundram gene: CBY1 was added gene: CBY1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CBY1 were set to 33131181; 25220153; 25103236 Phenotypes for gene: CBY1 were set to Intellectual disability; Joubert syndrome; Cerebellar ataxia; Polydactyly; Molar tooth sign
20 Feb 2025	Fetal anomalies v5.13	CASP2	Achchuthan Shanmugasundram gene: CASP2 was added gene: CASP2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: CASP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CASP2 were set to 37880421 Phenotypes for gene: CASP2 were set to Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, OMIM:620653
20 Feb 2025	Fetal anomalies v5.13	CAMTA1	Achchuthan Shanmugasundram Source NHS GMS was added to CAMTA1. Mode of inheritance for gene CAMTA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Cerebellar dysfunction with variable cognitive and behavioral abnormalities, OMIM:614756 for gene: CAMTA1 Publications for gene: CAMTA1 were updated from to 38044714
20 Feb 2025	Fetal anomalies v5.13	ATG7	Achchuthan Shanmugasundram gene: ATG7 was added gene: ATG7 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATG7 were set to 17726112; 16625205; 34161705 Phenotypes for gene: ATG7 were set to Spinocerebellar ataxia, autosomal recessive 31, OMIM:619422
20 Feb 2025	Fetal anomalies v5.13	ARV1	Achchuthan Shanmugasundram Source NHS GMS was added to ARV1. Publications for gene: ARV1 were updated from 34296759; 36307859 to 36307859; 34296759
20 Feb 2025	Fetal anomalies v5.13	AMOTL1	Achchuthan Shanmugasundram gene: AMOTL1 was added gene: AMOTL1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: AMOTL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AMOTL1 were set to 36751037 Phenotypes for gene: AMOTL1 were set to Orofacial clefting syndrome, MONDO:0015335, AMOTL1-related Mode of pathogenicity for gene: AMOTL1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
20 Feb 2025	Fetal anomalies v5.13	ADAMTS15	Achchuthan Shanmugasundram gene: ADAMTS15 was added gene: ADAMTS15 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: ADAMTS15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS15 were set to 35962790 Phenotypes for gene: ADAMTS15 were set to Arthrogryposis, distal, type 12, OMIM:620545
03 Feb 2025	Fetal anomalies v5.10	ITGAV	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four foetuses from a single family and functional data reported. Hence, this gene can be rated amber with current evidence.
03 Feb 2025	Fetal anomalies v5.9	ITGAV	Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:39526957 paper was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
03 Feb 2025	Fetal anomalies v5.8	ITGAV	Achchuthan Shanmugasundram gene: ITGAV was added gene: ITGAV was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ITGAV was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ITGAV were set to 39526957 Phenotypes for gene: ITGAV were set to syndromic disease, MONDO:0002254 Review for gene: ITGAV was set to AMBER Added comment: PMID:39526957 reported the identification of biallelic ITGAV variants in two unrelated patients and four foetuses from a third family. The two patients were reported with complex phenotype including global developmental delay, eye and brain abnormalities, inflammatory bowel disease and immune dysregulation. The four foetuses were reported with brain and skull abnormalities. There is also functional evidence in support of the association. This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature
07 Jan 2025	Fetal anomalies v5.7	CACHD1	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two fetal cases reported from the same family, although there are six cases from four families reported in total. In addition, there is functional evidence. Hence, this gene can be rated amber with the current evidence.
07 Jan 2025	Fetal anomalies v5.6	CACHD1	Achchuthan Shanmugasundram gene: CACHD1 was added gene: CACHD1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CACHD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CACHD1 were set to 38158856 Phenotypes for gene: CACHD1 were set to syndromic complex neurodevelopmental disorder, MONDO:0800439 Review for gene: CACHD1 was set to AMBER Added comment: PMID:38158856 reported six affected individuals from four unrelated families with biallelic (either homozygous or compound heterozygous) CACHD1 variants (3 splice, 2 frameshift and 1 nonsense variant). Of these, two cases from the fourth family are fetal cases. Excluding these two fatal cases, all others were affected by syndromic neurodevelopmental abnormalities, multiple organ systems featuring global impairment of psychomotor development, dysmorphic facial features, genitourinary abnormalities, oculo-auricular and congenital malformation. Cognitive impairment was reported to be mild in three cases from three different families, while the fourth case had no cognitive impairment. Psychomotor delay was reported in two unrelated cases and seizure was reported in one. Facial dysmorphism and ear and genitourinary abnormalities were reported in the two fetal cases, while congenital malformations of the digestive tract was reported in one of them. Functional evidence from human stem cell-derived neural models and zebrafish mutants are also available in support of the disease association. This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype. Sources: Literature
08 Oct 2024	Fetal anomalies v4.197	XYLT1	Sarah Leigh commented on gene: XYLT1: There is enough evidence for XYLT1_GGC to be green on this panel. At least ten patients from at least eight families have either homozygous or compound heterozygous (with other XYLT1 variants) XYLT1_GGC expansions (PMID: 22711505;30554721).
02 Oct 2024	Fetal anomalies v4.194	RNU12	Arina Puzriakova Tag locus-type-rna-small-nuclear tag was added to gene: RNU12. Tag gene-checked tag was added to gene: RNU12.
02 Oct 2024	Fetal anomalies v4.193	C11orf70	Arina Puzriakova Phenotypes for gene: C11orf70 were changed from PRIMARY CILIARY DYSKINESIA to Ciliary dyskinesia, primary, 38, OMIM:618063
26 Sep 2024	Fetal anomalies v4.192	SMARCD1	Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SMARCD1. Tag Q3_24_NHS_review was removed from gene: SMARCD1.
26 Sep 2024	Fetal anomalies v4.192	ARL3	Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ARL3. Tag Q3_24_NHS_review was removed from gene: ARL3.
26 Sep 2024	Fetal anomalies v4.192	ARID2	Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ARID2. Tag Q3_24_NHS_review was removed from gene: ARID2.
26 Sep 2024	Fetal anomalies v4.192	SMARCD1	Achchuthan Shanmugasundram edited their review of gene: SMARCD1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Sep 2024	Fetal anomalies v4.192	ARL3	Achchuthan Shanmugasundram edited their review of gene: ARL3: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Sep 2024	Fetal anomalies v4.192	ARID2	Achchuthan Shanmugasundram edited their review of gene: ARID2: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
26 Sep 2024	Fetal anomalies v4.191	SMARCD1	Achchuthan Shanmugasundram Source Expert Review Green was added to SMARCD1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Fetal anomalies v4.191	ARL3	Achchuthan Shanmugasundram Source Expert Review Green was added to ARL3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
26 Sep 2024	Fetal anomalies v4.191	ARID2	Achchuthan Shanmugasundram Source Expert Review Green was added to ARID2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
02 Sep 2024	Fetal anomalies v4.188	MYBBP1A	Sarah Graham gene: MYBBP1A was added gene: MYBBP1A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MYBBP1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYBBP1A were set to 39191491; 28425981 Review for gene: MYBBP1A was set to GREEN Added comment: Three fetuses have been reported with biallelic variants in MYBBP1A in association with oligohydramnios, cystic hygroma, pleural effusion, generalized hydrops, ascites, severe IUGR and skeletal anomalies (PMID 39191491;28425981). Sources: Literature
30 Aug 2024	Fetal anomalies v4.187	TTI2	Achchuthan Shanmugasundram Phenotypes for gene: TTI2 were changed from Mental retardation, autosomal recessive 39, OMIM:615541; Microcephaly; AUTOSOMAL RECESSIVE MENTAL RETARDATION to Mental retardation, autosomal recessive 39, OMIM:615541; Microcephaly
30 Aug 2024	Fetal anomalies v4.182	ITPR1	Achchuthan Shanmugasundram Phenotypes for gene: ITPR1 were changed from SPINOCEREBELLAR ATAXIA TYPE15; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE; Gillespie Syndrome to Spinocerebellar ataxia 29, congenital nonprogressive, OMIM:117360; Spinocerebellar ataxia 15, OMIM:606658; Gillespie syndrome, OMIM:206700
30 Aug 2024	Fetal anomalies v4.180	DEAF1	Achchuthan Shanmugasundram Phenotypes for gene: DEAF1 were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; Vulto-van Silfout-de Vries syndrome, OMIM:615828; Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, OMIM:617171; Autism, intellectual disability, basal ganglia dysfunction and epilepsy to Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, OMIM:617171; Vulto-van Silfout-de Vries syndrome, OMIM:615828
30 Aug 2024	Fetal anomalies v4.178	COL25A1	Achchuthan Shanmugasundram Phenotypes for gene: COL25A1 were changed from FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5; Arthrogryposis multiplex congenita, MONDO:0015168 to Arthrogryposis multiplex congenita, MONDO:0015168
30 Aug 2024	Fetal anomalies v4.173	ACSL4	Achchuthan Shanmugasundram Phenotypes for gene: ACSL4 were changed from Mental retardation, X-linked 63 , OMIM:300387; ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS; MENTAL RETARDATION X-LINKED TYPE 63 to Mental retardation, X-linked 63 , OMIM:300387
30 Aug 2024	Fetal anomalies v4.170	YAP1	Achchuthan Shanmugasundram Phenotypes for gene: YAP1 were changed from Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, OMIM:120433; COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION to Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, OMIM:120433
30 Aug 2024	Fetal anomalies v4.166	TRAPPC11	Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC11 were changed from MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S to Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM:615356
30 Aug 2024	Fetal anomalies v4.163	SNAP29	Achchuthan Shanmugasundram Phenotypes for gene: SNAP29 were changed from Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528; CEDNIK syndrome, MONDO:0012290 to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528; CEDNIK syndrome, MONDO:0012290
30 Aug 2024	Fetal anomalies v4.161	SLC4A1	Achchuthan Shanmugasundram Phenotypes for gene: SLC4A1 were changed from RENAL TUBULAR ACIDOSIS, DISTAL, AD; RENAL TUBULAR ACIDOSIS, DISTAL, AR; Ovalocytosis, SA type, OMIM:166900 to Ovalocytosis, SA type, OMIM:166900
30 Aug 2024	Fetal anomalies v4.158	RIN2	Achchuthan Shanmugasundram Phenotypes for gene: RIN2 were changed from MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS to Macrocephaly, alopecia, cutis laxa, and scoliosis, OMIM:613075
30 Aug 2024	Fetal anomalies v4.154	QARS	Achchuthan Shanmugasundram Phenotypes for gene: QARS were changed from MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760
30 Aug 2024	Fetal anomalies v4.153	QARS	Achchuthan Shanmugasundram Publications for gene: QARS were set to
30 Aug 2024	Fetal anomalies v4.152	POLD1	Achchuthan Shanmugasundram Phenotypes for gene: POLD1 were changed from Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381; SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381
30 Aug 2024	Fetal anomalies v4.147	NAA15	Achchuthan Shanmugasundram Phenotypes for gene: NAA15 were changed from CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER; Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, OMIM:617787 to Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, OMIM:617787
30 Aug 2024	Fetal anomalies v4.146	MYBPC3	Achchuthan Shanmugasundram Phenotypes for gene: MYBPC3 were changed from ?Congenital myopathy; Cardiomyopathy; Cardiomyopathy, hypertrophic, 4, OMIM:115197 to Cardiomyopathy, hypertrophic, 4, OMIM:115197
30 Aug 2024	Fetal anomalies v4.145	MPZ	Achchuthan Shanmugasundram Phenotypes for gene: MPZ were changed from Charcot-Marie-Tooth disease, type 2I 607677; Roussy-Levy syndrome 180800; Dejerine-Sottas disease 145900; Charcot-Marie-Tooth disease, dominant intermediate D 607791; Charcot-Marie-Tooth disease, type 1B 118200; Neuropathy, congenital hypomyelinating 605253; Hypomyelinating neuropathy, congenital, 2, OMIM:618184; Charcot-Marie-Tooth disease, type 2J 607736 to Hypomyelinating neuropathy, congenital, 2, OMIM:618184
30 Aug 2024	Fetal anomalies v4.144	MITF	Achchuthan Shanmugasundram Phenotypes for gene: MITF were changed from WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2A; TIETZ SYNDROME; COMMAD syndrome, 617306; Tietz albinism-deafness syndrome, 103500; Waardenburg syndrome, type 2A, 193510; Waardenburg syndrome/ocular albinism, digenic, 103470 to COMMAD syndrome, OMIM:617306
30 Aug 2024	Fetal anomalies v4.136	KDM1A	Achchuthan Shanmugasundram Phenotypes for gene: KDM1A were changed from Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728; Developmental delay and distinctive facial features to Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728
30 Aug 2024	Fetal anomalies v4.135	KCNH1	Achchuthan Shanmugasundram Phenotypes for gene: KCNH1 were changed from Zimmermann-Laband syndrome 1, OMIM:135500; TEMPLE BARRAISTER SYNDROME to Zimmermann-Laband syndrome 1, OMIM:135500
30 Aug 2024	Fetal anomalies v4.130	EMC1	Achchuthan Shanmugasundram Phenotypes for gene: EMC1 were changed from Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.; Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875 to Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875
30 Aug 2024	Fetal anomalies v4.129	DOCK7	Achchuthan Shanmugasundram Phenotypes for gene: DOCK7 were changed from EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 to Developmental and epileptic encephalopathy 23, OMIM:615859
30 Aug 2024	Fetal anomalies v4.125	CTDP1	Achchuthan Shanmugasundram Phenotypes for gene: CTDP1 were changed from CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME to Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168
30 Aug 2024	Fetal anomalies v4.116	ATP1A3	Achchuthan Shanmugasundram Phenotypes for gene: ATP1A3 were changed from Polymicrogyria; RAPID-ONSET DYSTONIA-PARKINSONISM; Developmental and epileptic encephalopathy 99, OMIM:619606; ALTERNATING HEMIPLEGIA OF CHILDHOOD to Developmental and epileptic encephalopathy 99, OMIM:619606; Polymicrogyria
30 Aug 2024	Fetal anomalies v4.114	AP4M1	Achchuthan Shanmugasundram Phenotypes for gene: AP4M1 were changed from CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3 to Spastic paraplegia 50, autosomal recessive, OMIM:612936
30 Aug 2024	Fetal anomalies v4.110	AARS	Achchuthan Shanmugasundram Publications for gene: AARS were set to
30 Aug 2024	Fetal anomalies v4.108	WWOX	Achchuthan Shanmugasundram Phenotypes for gene: WWOX were changed from EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 to Developmental and epileptic encephalopathy 28, OMIM:616211
30 Aug 2024	Fetal anomalies v4.106	TSEN15	Achchuthan Shanmugasundram Phenotypes for gene: TSEN15 were changed from Pontocerebellar Hypoplasia and Progressive Microcephaly to Pontocerebellar hypoplasia, type 2F, OMIM:617026
30 Aug 2024	Fetal anomalies v4.103	TOR1AIP1	Achchuthan Shanmugasundram Phenotypes for gene: TOR1AIP1 were changed from congenital myasthenic syndrome; Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072 to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072; congenital myasthenic syndrome
30 Aug 2024	Fetal anomalies v4.100	THOC2	Achchuthan Shanmugasundram edited their review of gene: THOC2: Changed phenotypes to: Mental retardation, X-linked 12/35, MIM #300957
30 Aug 2024	Fetal anomalies v4.100	THOC2	Achchuthan Shanmugasundram Phenotypes for gene: THOC2 were changed from MENTAL RETARDATION, X-LINKED 12 to Intellectual developmental disorder, X-linked 12, OMIM:300957
30 Aug 2024	Fetal anomalies v4.98	SPINT2	Achchuthan Shanmugasundram Phenotypes for gene: SPINT2 were changed from congenital secretory sodium diarrhea 3, MONDO:0010036; Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420 to Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420; congenital secretory sodium diarrhea 3, MONDO:0010036
30 Aug 2024	Fetal anomalies v4.97	SOX11	Achchuthan Shanmugasundram Phenotypes for gene: SOX11 were changed from Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, OMIM:615866; MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27 to Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, OMIM:615866
30 Aug 2024	Fetal anomalies v4.96	SMARCD1	Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SMARCD1. Tag Q3_24_NHS_review tag was added to gene: SMARCD1.
30 Aug 2024	Fetal anomalies v4.93	SEMA3A	Achchuthan Shanmugasundram Phenotypes for gene: SEMA3A were changed from {Hypogonadotropic hypogonadism 16 with or without anosmia, OMIM:614897; congenital heart disease; skeletal anomalies to {Hypogonadotropic hypogonadism 16 with or without anosmia}, OMIM:614897; congenital heart disease; skeletal anomalies
30 Aug 2024	Fetal anomalies v4.92	SEMA3A	Achchuthan Shanmugasundram Phenotypes for gene: SEMA3A were changed from skeletal anomalies; {Hypogonadotropic hypogonadism 16 with or without anosmia, OMIM:614897; congenital heart disease to {Hypogonadotropic hypogonadism 16 with or without anosmia, OMIM:614897; congenital heart disease; skeletal anomalies
30 Aug 2024	Fetal anomalies v4.91	SCN3A	Achchuthan Shanmugasundram Phenotypes for gene: SCN3A were changed from Epilepsy, familial focal, with variable foci 4, OMIM:617935; Intellectual disability; Malformations of cortical development; Epileptic encephalopathy, early infantile, 62, OMIM:617938 to Epileptic encephalopathy, early infantile, 62, OMIM:617938; Epilepsy, familial focal, with variable foci 4, OMIM:617935; Intellectual disability; Malformations of cortical development
30 Aug 2024	Fetal anomalies v4.90	SCN3A	Achchuthan Shanmugasundram Phenotypes for gene: SCN3A were changed from Epilepsy, familial focal, with variable foci 4, OMIM:617935; Intellectual disability; Focal epilepsy; Malformations of cortical development; Epileptic encephalopathy, early infantile, 62, OMIM:617938 to Epilepsy, familial focal, with variable foci 4, OMIM:617935; Intellectual disability; Malformations of cortical development; Epileptic encephalopathy, early infantile, 62, OMIM:617938
30 Aug 2024	Fetal anomalies v4.86	PXDN	Achchuthan Shanmugasundram Phenotypes for gene: PXDN were changed from CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA to Anterior segment dysgenesis 7, with sclerocornea, OMIM:269400
30 Aug 2024	Fetal anomalies v4.84	PPP3CA	Achchuthan Shanmugasundram Phenotypes for gene: PPP3CA were changed from Severe Neurodevelopmental Disease with Seizures; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM:618265 to Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM:618265
30 Aug 2024	Fetal anomalies v4.83	PLPBP	Achchuthan Shanmugasundram Phenotypes for gene: PLPBP were changed from Vitamin-B6-Dependent Epilepsy to Epilepsy, early-onset, vitamin B6-dependent, OMIM:617290
30 Aug 2024	Fetal anomalies v4.75	NONO	Achchuthan Shanmugasundram Phenotypes for gene: NONO were changed from Pulmonary stenosis; Left ventricular non-compaction cardiomyopathy (LVNC); Ebstein’s anomaly; Ventricular septal defect (VSD); Intellectual developmental disorder, X-linked syndromic 34, OMIM:300967; Atresia to Intellectual developmental disorder, X-linked syndromic 34, OMIM:300967
30 Aug 2024	Fetal anomalies v4.74	MED27	Achchuthan Shanmugasundram Phenotypes for gene: MED27 were changed from Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia - MIM#619286 to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, OMIM:619286
30 Aug 2024	Fetal anomalies v4.73	MED25	Achchuthan Shanmugasundram Phenotypes for gene: MED25 were changed from Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; hypospadias, thin corpus callosum, cerebral ventricular dilatation; multiple congenital anomalies; congenital heart defects; Basel-Vanagait-Smirin-Yosef syndrome, OMIM:616449 to Basel-Vanagait-Smirin-Yosef syndrome, OMIM:616449
30 Aug 2024	Fetal anomalies v4.71	KIDINS220	Achchuthan Shanmugasundram Phenotypes for gene: KIDINS220 were changed from Ventriculomegaly and arthrogryposis, OMIM:619501 to Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296; cerebral ventriculomegaly; limb contractures
30 Aug 2024	Fetal anomalies v4.69	JAM3	Achchuthan Shanmugasundram Phenotypes for gene: JAM3 were changed from HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS to Haemorrhagic destruction of the brain, subependymal calcification, and cataracts, OMIM:613730
30 Aug 2024	Fetal anomalies v4.67	IRX5	Achchuthan Shanmugasundram Phenotypes for gene: IRX5 were changed from HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY to Hamamy syndrome, OMIM:611174
30 Aug 2024	Fetal anomalies v4.63	HMX1	Achchuthan Shanmugasundram Phenotypes for gene: HMX1 were changed from OCULOAURICULAR SYNDROME to Oculoauricular syndrome, OMIM:612109
30 Aug 2024	Fetal anomalies v4.58	GHR	Achchuthan Shanmugasundram Phenotypes for gene: GHR were changed from Growth hormone insensitivity, partial, OMIM:604271; PITUITARY DWARFISM II; Laron dwarfism, OMIM:262500 to Growth hormone insensitivity, partial, OMIM:604271; Laron dwarfism, OMIM:262500
30 Aug 2024	Fetal anomalies v4.56	FBRSL1	Achchuthan Shanmugasundram Phenotypes for gene: FBRSL1 were changed from congenital heart defect; Congenital malformations to Congenital heart defect; Congenital malformations
30 Aug 2024	Fetal anomalies v4.43	ARL3	Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ARL3. Tag Q3_24_NHS_review tag was added to gene: ARL3.
30 Aug 2024	Fetal anomalies v4.43	ARID2	Achchuthan Shanmugasundram Phenotypes for gene: ARID2 were changed from ARID2-Coffin-Siris like disorder; Coffin-Siris syndrome 6, OMIM:617808 to Coffin-Siris syndrome 6, OMIM:617808
30 Aug 2024	Fetal anomalies v4.42	ARID2	Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ARID2. Tag Q3_24_NHS_review tag was added to gene: ARID2.
30 Aug 2024	Fetal anomalies v4.42	AP4S1	Achchuthan Shanmugasundram Phenotypes for gene: AP4S1 were changed from CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6 to Spastic paraplegia 52, autosomal recessive, OMIM:614067
29 Aug 2024	Fetal anomalies v4.36	SMARCD1	Achchuthan Shanmugasundram commented on gene: SMARCD1
29 Aug 2024	Fetal anomalies v4.36	SMARCAL1	Achchuthan Shanmugasundram commented on gene: SMARCAL1
29 Aug 2024	Fetal anomalies v4.36	QARS	Achchuthan Shanmugasundram commented on gene: QARS
29 Aug 2024	Fetal anomalies v4.36	PARP6	Achchuthan Shanmugasundram commented on gene: PARP6
29 Aug 2024	Fetal anomalies v4.36	ARL3	Achchuthan Shanmugasundram commented on gene: ARL3
29 Aug 2024	Fetal anomalies v4.36	ARID2	Achchuthan Shanmugasundram commented on gene: ARID2
29 Aug 2024	Fetal anomalies v4.36	ARF1	Achchuthan Shanmugasundram commented on gene: ARF1
29 Aug 2024	Fetal anomalies v4.36	AARS	Achchuthan Shanmugasundram commented on gene: AARS
29 Aug 2024	Fetal anomalies v4.35	ZNF526	Natalie Canham reviewed gene: ZNF526: Rating: GREEN; Mode of pathogenicity: ; Publications: 33397746, 21937992, 25558065; Phenotypes: Dystonia, Hypertonia, Intellectual disability, Cataracts, Microcephaly, Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	ZNF335	Anna de Burca reviewed gene: ZNF335: Rating: GREEN; Mode of pathogenicity: ; Publications: 23178126, 34982360, 29652087, 27540107; Phenotypes: Microcephaly 10, primary, autosomal recessive, OMIM:615095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	ZMYM2	Esther Kinning reviewed gene: ZMYM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32891193; Phenotypes: Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, OMIM:619522; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	YIF1B	Samantha Doyle reviewed gene: YIF1B: Rating: AMBER; Mode of pathogenicity: ; Publications: 26077767, 32006098; Phenotypes: Kaya-Barakat-Masson syndrome, OMIM:619125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	YAP1	Natalie Canham reviewed gene: YAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24462371, 28801591, 27267789; Phenotypes: Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, OMIM:120433; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	WDR37	Denise Williams reviewed gene: WDR37: Rating: GREEN; Mode of pathogenicity: ; Publications: 31327508, 31327510; Phenotypes: Neurooculocardiogenitourinary syndrome, OMIM:618652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	TTI2	Samantha Doyle reviewed gene: TTI2: Rating: RED; Mode of pathogenicity: ; Publications: 32061250, 31737043, 23956177; Phenotypes: Mental retardation, autosomal recessive 39, OMIM:615541, Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	TSEN15	Natalie Bibb reviewed gene: TSEN15: Rating: GREEN; Mode of pathogenicity: ; Publications: 30914295, 25558065, 27392077; Phenotypes: Pontocerebellar hypoplasia, type 2F, OMIM:617026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	TRIO	Esther Kinning reviewed gene: TRIO: Rating: AMBER; Mode of pathogenicity: ; Publications: 32109419, 26721934; Phenotypes: Mental retardation, autosomal dominant 44, OMIM:617061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	TRAPPC11	Achchuthan Shanmugasundram reviewed gene: TRAPPC11: Rating: AMBER; Mode of pathogenicity: ; Publications: 27862579, 23830518, 26322222, 29855340, 30105108, 27707803, 26912795, 28484880; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM:615356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	TP73	Samantha Doyle reviewed gene: TP73: Rating: GREEN; Mode of pathogenicity: ; Publications: 34077761, 31130284; Phenotypes: Ciliary dyskinesia, primary, 47, and lissencephaly, OMIM:619466; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	TOR1AIP1	Lyn Chitty reviewed gene: TOR1AIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27342937, 24856141, 30723199, 32055997, 33215087, 31299614; Phenotypes: congenital myasthenic syndrome, Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	TLL1	Esther Kinning reviewed gene: TLL1: Rating: AMBER; Mode of pathogenicity: ; Publications: 18830233, 31570783, 27418595, 30538173; Phenotypes: congenital heart disease, Atrial septal defect 6, OMIM:613087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	THOC2	Achchuthan Shanmugasundram reviewed gene: THOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32116545, 26166480, 32960281, 29851191; Phenotypes: Mental retardation, X-linked 12/35 MIM#300957; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
29 Aug 2024	Fetal anomalies v4.35	STK4	Denise Williams reviewed gene: STK4: Rating: RED; Mode of pathogenicity: ; Publications: 22294732, 26117625, 22174160, 22952854; Phenotypes: T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, OMIM:614868; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	STIM1	Achchuthan Shanmugasundram reviewed gene: STIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: 20876309, 31448844; Phenotypes: Myopathy, tubular aggregate, OMIM:160565, Immunodeficiency 10, OMIM:612783, Stormorken syndrome, OMIM:185070; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	SPTB	Stephanie Allen reviewed gene: SPTB: Rating: GREEN; Mode of pathogenicity: ; Publications: 33761640, 33082562, 35819869; Phenotypes: Hereditary spherocytosis/elliptocytosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	SPTA1	Samantha Doyle reviewed gene: SPTA1: Rating: RED; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Hereditary spherocytosis/elliptocytosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	SPINT2	Lyn Chitty reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19185281, 24142340, 30445423, 20009592, 33374714, 33029133, 33547739; Phenotypes: congenital secretory sodium diarrhea 3, MONDO:0010036, Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	SPEN	Samantha Doyle reviewed gene: SPEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 33596411; Phenotypes: Radio-Tartaglia syndrome, OMIM:619312; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	SNAP29	Natalie Bibb reviewed gene: SNAP29: Rating: AMBER; Mode of pathogenicity: ; Publications: 28388629, 15968592, 29051910, 21073448, 30793783; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528, CEDNIK syndrome, MONDO:0012290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	SMARCD1	Natalie Chandler reviewed gene: SMARCD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30879640; Phenotypes: Coffin-Siris syndrome 11, OMIM:618779; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	SMARCAL1	Anna de Burca reviewed gene: SMARCAL1: Rating: RED; Mode of pathogenicity: ; Publications: 20301550, 20036229, 17089404, 15523612; Phenotypes: Schimke immunoosseous dysplasia, OMIM:242900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	SMAD6	Esther Kinning reviewed gene: SMAD6: Rating: RED; Mode of pathogenicity: ; Publications: 22275001, 31138930, 32499606, 27606499; Phenotypes: {Craniosynostosis 7, susceptibility to}, OMIM:617439, Aortic valve disease 2, OMIM:614823, {Radioulnar synostosis, nonsyndromic}, OMIM:179300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	SMAD2	Denise Williams reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30157302, 29967133, 23665959; Phenotypes: Loeys-Dietz syndrome 6, OMIM:619656, Congenital heart defects, multiple types, 8, with or without heterotaxy, OMIM:619657; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	SLC22A5	Natalie Canham reviewed gene: SLC22A5: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Primary carnitine deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	SHMT2	Natalie Chandler reviewed gene: SHMT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33015733; Phenotypes: Polymicrogyria, corpus callosum anomalies, Microcephaly, Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	SEMA3A	Natalie Bibb reviewed gene: SEMA3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 20301509, 22927827, 24124006, 33369061, 21059704, 28075028; Phenotypes: skeletal anomalies, {Hypogonadotropic hypogonadism 16 with or without anosmia, OMIM:614897, congenital heart disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	SCN3A	Stephanie Allen reviewed gene: SCN3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29740860, 32515017, 30146301; Phenotypes: Epileptic encephalopathy, early infantile, 62, OMIM:617938, Epilepsy, familial focal, with variable foci 4, OMIM:617935, Intellectual disability, Malformations of cortical development; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	RNU12	Natalie Chandler reviewed gene: RNU12: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085356; Phenotypes: Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations, CDAGS syndrome, OMIM:603116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	RHOA	Esther Kinning reviewed gene: RHOA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, OMIM:618727; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	QARS	Natalie Bibb reviewed gene: QARS: Rating: AMBER; Mode of pathogenicity: ; Publications: 24656866, 25432320, 25041233, 32042906, 25471517, 28620870; Phenotypes: Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	PRR12	Denise Williams reviewed gene: PRR12: Rating: GREEN; Mode of pathogenicity: ; Publications: 29556724, 33314030; Phenotypes: Neuroocular syndrome, OMIM:619539, Complex microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	PPP3CA	Anna de Burca reviewed gene: PPP3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: 28942967, 33082562, 29432562; Phenotypes: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM:618265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	PPP1R13L	Natalie Canham reviewed gene: PPP1R13L: Rating: RED; Mode of pathogenicity: ; Publications: 32666529, 28864777; Phenotypes: Dilated cardiomyopathy, onset in infancy, Cleft lip and palate; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	PPIL1	Anna de Burca reviewed gene: PPIL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33220177; Phenotypes: Pontocerebellar hypoplasia, type 14, OMIM:619301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	POLD1	Esther Kinning reviewed gene: POLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 23770608; Phenotypes: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	PLPBP	Denise Williams reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 31741821, 30668673, 27912044; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, OMIM:617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	PLEC	Stephanie Allen reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: ; Publications: 28824526, 31509265, 22144912, 21263134, 21109228, 20624679; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723, Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950, Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138, Epidermolysis bullosa simplex with muscular dystrophy, OMIM:226670; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	PKP2	Esther Kinning reviewed gene: PKP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Severe cardiomyopathy with left ventricular noncompaction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	PI4KA	Natalie Bibb reviewed gene: PI4KA: Rating: AMBER; Mode of pathogenicity: ; Publications: 34415310; Phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679, Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	PARP6	Lyn Chitty reviewed gene: PARP6: Rating: AMBER; Mode of pathogenicity: ; Publications: 34067418; Phenotypes: Microcephaly, Intellectual disability, Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	PAM16	Natalie Chandler reviewed gene: PAM16: Rating: AMBER; Mode of pathogenicity: ; Publications: 27354339, 24786642; Phenotypes: Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM:613320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	ORAI1	Denise Williams reviewed gene: ORAI1: Rating: AMBER; Mode of pathogenicity: ; Publications: 31448844; Phenotypes: Myopathy, tubular aggregate, 2, OMIM:615883; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	NUP188	Stephanie Allen reviewed gene: NUP188: Rating: GREEN; Mode of pathogenicity: ; Publications: 28726809, 32021605, 32275884; Phenotypes: microcephaly, ID, Sandestig-Stefanova syndrome, OMIM:618804, structural brain abnormalities, cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	NPRL3	Natalie Chandler reviewed gene: NPRL3: Rating: RED; Mode of pathogenicity: ; Publications: 27173016, 33461085, 35136953, 26285051; Phenotypes: Epilepsy, familial focal, with variable foci 3, OMIM:617118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	NPRL2	Natalie Canham reviewed gene: NPRL2: Rating: RED; Mode of pathogenicity: ; Publications: 29281825, 31625153, 22268191, 27173016, 33461085; Phenotypes: Epilepsy, familial focal, with variable foci 2, OMIM:617116; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	NONO	Anna de Burca reviewed gene: NONO: Rating: GREEN; Mode of pathogenicity: ; Publications: 27550220, 27329731, 32397791, 26571461; Phenotypes: Ebstein s anomaly, Pulmonary stenosis, Left ventricular non-compaction cardiomyopathy (LVNC), Mental retardation, X-linked, syndromic 34, MIM# 300967, Ventricular septal defect (VSD); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
29 Aug 2024	Fetal anomalies v4.35	NKX2-6	Denise Williams reviewed gene: NKX2-6: Rating: RED; Mode of pathogenicity: ; Publications: 32198970, 15649947, 24421281, 25319568, 25380965; Phenotypes: Persistent truncus arteriosus, OMIM:217095, Conotruncal heart malformations, OMIM:217095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	NFIA	Natalie Chandler reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: ; Publications: 32926563, 35018717, 36553517, 33973697; Phenotypes: Brain malformations with or without urinary tract defects, OMIM:613735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	NEXN	Lyn Chitty reviewed gene: NEXN: Rating: AMBER; Mode of pathogenicity: ; Publications: 33949776, 33947203, 35166435, 32058062; Phenotypes: Lethal fetal cardiomyopathy, Cardiomyopathy, dilated 1CC, OMIM:613122, Hydrops fetalis; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	NCAPD2	Natalie Chandler reviewed gene: NCAPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27737959, 28097321, 31056748; Phenotypes: Microcephaly 21, primary, autosomal recessive, OMIM:617983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	MYSM1	Achchuthan Shanmugasundram reviewed gene: MYSM1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Bone marrow failure syndrome 4, OMIM:618116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	MYBPC3	Esther Kinning reviewed gene: MYBPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: 19858127, 16679492, 17937428; Phenotypes: Cardiomyopathy, hypertrophic, 4, OMIM:115197, Neonatal hypertrophic cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	MINPP1	Natalie Canham reviewed gene: MINPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33168985, 33257696; Phenotypes: Pontocerebellar hypoplasia, type 16, OMIM:619527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	MED27	Natalie Bibb reviewed gene: MED27: Rating: GREEN; Mode of pathogenicity: ; Publications: 33443317; Phenotypes: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia - MIM#619286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	MED25	Anna de Burca reviewed gene: MED25: Rating: GREEN; Mode of pathogenicity: ; Publications: 32324310, 25792360, 32816121; Phenotypes: Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643, hypospadias, thin corpus callosum, cerebral ventricular dilatation, multiple congenital anomalies, congenital heart defects, Basel-Vanagait-Smirin-Yosef syndrome, OMIM:616449; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	MCIDAS	Denise Williams reviewed gene: MCIDAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 25048963, 32802948, 30237576; Phenotypes: Hydrocephalus, Ciliary dyskinesia, primary, 42, OMIM:618695, Choroid plexus hyperplasia, Arachnoid cyst; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	MAST1	Stephanie Allen reviewed gene: MAST1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32818970, 32198973, 31721002, 30449657; Phenotypes: cerebellar hypoplasia, corpus callosum anomalies, cortical malformations, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, OMIM:61827; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	MAPKAPK5	Natalie Chandler reviewed gene: MAPKAPK5: Rating: GREEN; Mode of pathogenicity: ; Publications: 35575217, 33442026; Phenotypes: Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	MAPK8IP3	Lyn Chitty reviewed gene: MAPK8IP3: Rating: AMBER; Mode of pathogenicity: ; Publications: 30945334, 30612693; Phenotypes: cerebral atrophy, Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443, corpus callosum anomalies, polymicrogyria; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
29 Aug 2024	Fetal anomalies v4.35	MAP1B	Natalie Canham reviewed gene: MAP1B: Rating: AMBER; Mode of pathogenicity: ; Publications: 33772511, 30150678, 31317654, 30214071; Phenotypes: Polymicrogyria, Periventricular nodular heterotopia 9, OMIM:618918; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	MAB21L1	Esther Kinning reviewed gene: MAB21L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30487245; Phenotypes: Cerebellar, ocular, craniofacial, and genital syndrome OMIM:618479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	KIDINS220	Lyn Chitty reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: ; Publications: 32909676, 33205811, 22048169, 28934391; Phenotypes: cerebral ventriculomegaly, spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0015007, Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296, limb contractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	KDM1A	Natalie Bibb reviewed gene: KDM1A: Rating: AMBER; Mode of pathogenicity: ; Publications: 27094131, 24838796, 26656649; Phenotypes: Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	JAM3	Stephanie Allen reviewed gene: JAM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 23255084, 21109224; Phenotypes: Haemorrhagic destruction of the brain, subependymal calcification, and cataracts, OMIM:613730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	ITPR1	Samantha Doyle reviewed gene: ITPR1: Rating: RED; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Spinocerebellar ataxia 29, congenital nonprogressive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	INTS1	Natalie Chandler reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28542170, 31428919, 30622326; Phenotypes: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:61857; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	IKZF1	Natalie Canham reviewed gene: IKZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Immunodeficiency, common variable, 13, OMIM:616873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	IFT74	Natalie Canham reviewed gene: IFT74: Rating: GREEN; Mode of pathogenicity: ; Publications: 32144365, 27486776, 33531668; Phenotypes: Bardet-Biedl syndrome 22, OMIM:617119, Joubert syndrome 40, OMIM:619582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	IFT27	Natalie Bibb reviewed gene: IFT27: Rating: AMBER; Mode of pathogenicity: ; Publications: 25443296, 24488770, 26763875, 30761183; Phenotypes: Bardet-Biedl syndrome 19, OMIM:615996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	HYAL2	Anna de Burca reviewed gene: HYAL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23172227, 28081210, 26515055, 34906488; Phenotypes: congenital cardiac malformations, Cleft lip and palate, cor triatriatum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	HS2ST1	Denise Williams reviewed gene: HS2ST1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33159882; Phenotypes: arthrogryposis, Neurofacioskeletal syndrome with or without renal agenesis, OMIM:619194, multiple congenital anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	HOXA2	Achchuthan Shanmugasundram reviewed gene: HOXA2: Rating: RED; Mode of pathogenicity: ; Publications: 32649979, 27503514, 28109504, 18394579, 23775976, 31567444; Phenotypes: Microtia with or without hearing impairment (AD), OMIM:612290; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	HMX1	Natalie Chandler reviewed gene: HMX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25574057, 18423520; Phenotypes: Oculoauricular syndrome, OMIM:612109; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	HERC1	Natalie Bibb reviewed gene: HERC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28323226, 26138117, 27108999, 26153217; Phenotypes: Macrocephaly, dysmorphic facies, and psychomotor retardation, OMIM:617011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	GHR	Stephanie Allen reviewed gene: GHR: Rating: GREEN; Mode of pathogenicity: ; Publications: 9360502; Phenotypes: Growth hormone insensitivity, partial, OMIM:604271, Laron dwarfism, OMIM:262500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	GATA5	Esther Kinning reviewed gene: GATA5: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: congenital heart defects and genital anomalies, Congenital heart defects, multiple types, 5, Hydrops fetalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	FOXJ1	Esther Kinning reviewed gene: FOXJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31630787; Phenotypes: Ciliary dyskinesia, primary, 43, OMIM:618699; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	FBRSL1	Stephanie Allen reviewed gene: FBRSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32424618, 34805182; Phenotypes: congenital heart defect, Congenital malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	FAT1	Natalie Chandler reviewed gene: FAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34013115, 33418956, 34202629, 26905694, 32902815, 30862798; Phenotypes: hand and foot anomalies, nephropathy, ocular anomalies, multiple congenital anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	EXOSC9	Natalie Chandler reviewed gene: EXOSC9: Rating: AMBER; Mode of pathogenicity: ; Publications: 30690203, 33040083, 29727687; Phenotypes: Pontocerebellar hypoplasia, type 1D, OMIM:618065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	EXOSC8	Natalie Canham reviewed gene: EXOSC8: Rating: AMBER; Mode of pathogenicity: ; Publications: 24989451, 34210538; Phenotypes: Pontocerebellar hypoplasia, type 1C, OMIM:616081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	EXOSC5	Natalie Bibb reviewed gene: EXOSC5: Rating: AMBER; Mode of pathogenicity: ; Publications: 32504085, 29302074; Phenotypes: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, OMIM:619576; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	ERGIC1	Esther Kinning reviewed gene: ERGIC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31230720, 28317099, 34037256; Phenotypes: Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	EMC1	Stephanie Allen reviewed gene: EMC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29271071, 26942288; Phenotypes: Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	EDN3	Natalie Canham reviewed gene: EDN3: Rating: AMBER; Mode of pathogenicity: ; Publications: 9359047, 27370713, 11303518, 10231870, 8630502, 30171849; Phenotypes: Central hypoventilation syndrome, congenital, OMIM:209880, Waardenburg syndrome, type 4B, OMIM:613265, {Hirschsprung disease, susceptibility to, 4}, OMIM:613712; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	DPH1	Esther Kinning reviewed gene: DPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32732226, 30877278, 29362492, 25558065; Phenotypes: Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	DICER1	Lyn Chitty reviewed gene: DICER1: Rating: RED; Mode of pathogenicity: ; Publications: 35114704, 29343557, 33208384, 31232238, 27960159, 24676357, 26227654; Phenotypes: GLOW syndrome, somatic mosaic, OMIM:618272, Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors , OMIM:138800, Pleuropulmonary blastoma, OMIM:601200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	DEPDC5	Natalie Chandler reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 36067010, 32848577; Phenotypes: Epilepsy, familial focal, with variable foci 1 MIM#604364 biallelic only; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	D2HGDH	Esther Kinning reviewed gene: D2HGDH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: D-2-hydroxyglutaric aciduria, OMIM:600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	CWF19L1	Denise Williams reviewed gene: CWF19L1: Rating: AMBER; Mode of pathogenicity: ; Publications: 27016154; Phenotypes: Spinocerebellar ataxia, autosomal recessive 17, OMIM:616127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	CTDP1	Stephanie Allen reviewed gene: CTDP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 20301787, 14517542, 24690360, 29174527, 25529582; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	COL25A1	Natalie Bibb reviewed gene: COL25A1: Rating: RED; Mode of pathogenicity: ; Publications: 26437029, 35077597; Phenotypes: Arthrogryposis multiplex congenita, MONDO:0015168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	COA7	Natalie Chandler reviewed gene: COA7: Rating: GREEN; Mode of pathogenicity: ; Publications: 27683825, 29718187; Phenotypes: the cerebellum and brainstem were spared but the spinal cord was thin with no obvious focal lesions, Brain and spinal cord MRI showed mild extension of signal abnormalities and extensive cavitations in the cerebral white matter; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	CLTC	Anna de Burca reviewed gene: CLTC: Rating: GREEN; Mode of pathogenicity: ; Publications: 33743358, 26822784, 31776469, 34230591, 29100083; Phenotypes: Mental retardation, autosomal dominant 56, MIM# 617854; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	CLCNKB	Denise Williams reviewed gene: CLCNKB: Rating: AMBER; Mode of pathogenicity: ; Publications: 18310267, 29254190; Phenotypes: Bartter syndrome, type 3, OMIM:607364, Bartter syndrome, type 4b, digenic, OMIM:613090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	CITED2	Achchuthan Shanmugasundram reviewed gene: CITED2: Rating: AMBER; Mode of pathogenicity: ; Publications: 16287139, 29536580, 33706167, 31515672, 11694877, 33439552; Phenotypes: Atrial septal defect 8, OMIM:614433, Ventricular septal defect 2, OMIM:614431, Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	CACNA1D	Anna de Burca reviewed gene: CACNA1D: Rating: AMBER; Mode of pathogenicity: ; Publications: 28472301, 25620733, 31921405; Phenotypes: Primary aldosteronism, seizures, and neurologic abnormalities, OMIM:615474; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	BCAS3	Lyn Chitty reviewed gene: BCAS3: Rating: AMBER; Mode of pathogenicity: ; Publications: 34022130; Phenotypes: Hengel-Maroofian-Schols syndrome, OMIM:619641; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	ARL3	Stephanie Allen reviewed gene: ARL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 30269812, 16565502; Phenotypes: Joubert syndrome 35, OMIM:618161; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	ARID2	Natalie Chandler reviewed gene: ARID2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28884947, 26238514, 35813374, 30838730, 28124119, 29698805; Phenotypes: Coffin-Siris syndrome 6, OMIM:617808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	ARF1	Lyn Chitty reviewed gene: ARF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28868155, 34353862; Phenotypes: Periventricular nodular heterotopia 8, OMIM:618185; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	AP4S1	Natalie Canham reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30283821, 25552650, 31915823, 27444738, 32216065, 21620353, 32979048; Phenotypes: Spastic paraplegia 52, autosomal recessive, OMIM:614067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	AP4M1	Natalie Bibb reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29096665, 21937992, 19559397, 28464862, 31915823, 25496299, 32979048; Phenotypes: Spastic paraplegia 50, autosomal recessive, OMIM:612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	AP4B1	Anna de Burca reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24781758, 24700674, 32166732, 31525725, 32171285, 22290197, 21620353, 32979048; Phenotypes: Hereditary spastic paraplegia 47, MONDO:0013551, Spastic paraplegia 47, autosomal recessive, OMIM:614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	ANKLE2	Denise Williams reviewed gene: ANKLE2: Rating: AMBER; Mode of pathogenicity: ; Publications: 31735666, 25259927, 30214071; Phenotypes: Microcephaly 16, primary, autosomal recessive, OMIM:616681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	ALPK3	Natalie Chandler reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26846950, 28630369; Phenotypes: Cardiomyopathy, familial hypertrophic 27, OMIM:618052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	ALG14	Lyn Chitty reviewed gene: ALG14: Rating: GREEN; Mode of pathogenicity: ; Publications: 34971077, 23404334, 28733338, 30221345; Phenotypes: ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227, Myopathy, epilepsy, and progressive cerebral atrophy, OMIM:619036; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	AGT	Anna de Burca reviewed gene: AGT: Rating: AMBER; Mode of pathogenicity: ; Publications: 33163725, 34234805, 16116425; Phenotypes: Renal tubular dysgenesis, OMIM:267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	ADAMTS19	Achchuthan Shanmugasundram reviewed gene: ADAMTS19: Rating: AMBER; Mode of pathogenicity: ; Publications: 31844321, 32323311; Phenotypes: Heart valve disorder, MONDO:0002869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	ACVRL1	Stephanie Allen reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21988128, 26126400, 32170914; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2, OMIM:600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	ACVR1	Natalie Chandler reviewed gene: ACVR1: Rating: AMBER; Mode of pathogenicity: ; Publications: 16642017, 29089047; Phenotypes: Fibrodysplasia ossificans progressiva, OMIM:135100, Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Aug 2024	Fetal anomalies v4.35	ACSL4	Lyn Chitty reviewed gene: ACSL4: Rating: RED; Mode of pathogenicity: ; Publications: 12525535; Phenotypes: Mental retardation, X-linked 63 , OMIM:300387; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
29 Aug 2024	Fetal anomalies v4.35	ABHD16A	Natalie Chandler reviewed gene: ABHD16A: Rating: AMBER; Mode of pathogenicity: ; Publications: 34866177, 34489854, 34587489; Phenotypes: Spastic paraplegia 86, autosomal recessive, OMIM:619735; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.35	AARS	Natalie Canham reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: 25817015, 28493438; Phenotypes: Developmental and epileptic encephalopathy 29, OMIM:616339, Developmental and epileptic encephalopathy, 29, MONDO:0014593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Aug 2024	Fetal anomalies v4.34	ZNF335	Achchuthan Shanmugasundram gene: ZNF335 was added gene: ZNF335 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ZNF335 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF335 were set to 23178126; 34982360; 29652087; 27540107 Phenotypes for gene: ZNF335 were set to Microcephaly 10, primary, autosomal recessive, OMIM:615095
29 Aug 2024	Fetal anomalies v4.34	YIF1B	Achchuthan Shanmugasundram gene: YIF1B was added gene: YIF1B was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: YIF1B were set to 26077767; 32006098 Phenotypes for gene: YIF1B were set to Kaya-Barakat-Masson syndrome, OMIM:619125
29 Aug 2024	Fetal anomalies v4.34	YAP1	Achchuthan Shanmugasundram Source NHS GMS was added to YAP1. Mode of inheritance for gene YAP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, OMIM:120433 for gene: YAP1 Publications for gene: YAP1 were updated from to 24462371; 28801591; 27267789
29 Aug 2024	Fetal anomalies v4.34	WDR37	Achchuthan Shanmugasundram gene: WDR37 was added gene: WDR37 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: WDR37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: WDR37 were set to 31327508; 31327510 Phenotypes for gene: WDR37 were set to Neurooculocardiogenitourinary syndrome, OMIM:618652
29 Aug 2024	Fetal anomalies v4.34	TTI2	Achchuthan Shanmugasundram Source NHS GMS was added to TTI2. Source Expert Review Red was added to TTI2. Added phenotypes Mental retardation, autosomal recessive 39, OMIM:615541; Microcephaly for gene: TTI2 Publications for gene: TTI2 were updated from to 32061250; 31737043; 23956177 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
29 Aug 2024	Fetal anomalies v4.34	TP73	Achchuthan Shanmugasundram gene: TP73 was added gene: TP73 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TP73 were set to 34077761; 31130284 Phenotypes for gene: TP73 were set to Ciliary dyskinesia, primary, 47, and lissencephaly, OMIM:619466
29 Aug 2024	Fetal anomalies v4.34	TOR1AIP1	Achchuthan Shanmugasundram gene: TOR1AIP1 was added gene: TOR1AIP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOR1AIP1 were set to 27342937; 24856141; 30723199; 32055997; 33215087; 31299614 Phenotypes for gene: TOR1AIP1 were set to congenital myasthenic syndrome; Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072
29 Aug 2024	Fetal anomalies v4.34	STK4	Achchuthan Shanmugasundram gene: STK4 was added gene: STK4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: STK4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STK4 were set to 22294732; 26117625; 22174160; 22952854 Phenotypes for gene: STK4 were set to T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, OMIM:614868
29 Aug 2024	Fetal anomalies v4.34	STIM1	Achchuthan Shanmugasundram gene: STIM1 was added gene: STIM1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: STIM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: STIM1 were set to 20876309; 31448844 Phenotypes for gene: STIM1 were set to Myopathy, tubular aggregate, OMIM:160565; Immunodeficiency 10, OMIM:612783; Stormorken syndrome, OMIM:185070
29 Aug 2024	Fetal anomalies v4.34	SPTB	Achchuthan Shanmugasundram gene: SPTB was added gene: SPTB was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SPTB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: SPTB were set to 33761640; 33082562; 35819869 Phenotypes for gene: SPTB were set to Elliptocytosis-3, OMIM:617948; Anemia, neonatal hemolytic, fatal or near-fatal, OMIM:617948; Spherocytosis, type 2, OMIM:616649
29 Aug 2024	Fetal anomalies v4.34	SPINT2	Achchuthan Shanmugasundram gene: SPINT2 was added gene: SPINT2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SPINT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPINT2 were set to 19185281; 24142340; 30445423; 20009592; 33374714; 33029133; 33547739 Phenotypes for gene: SPINT2 were set to congenital secretory sodium diarrhea 3, MONDO:0010036; Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420
29 Aug 2024	Fetal anomalies v4.34	SPEN	Achchuthan Shanmugasundram gene: SPEN was added gene: SPEN was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SPEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SPEN were set to 33596411 Phenotypes for gene: SPEN were set to Radio-Tartaglia syndrome, OMIM:619312
29 Aug 2024	Fetal anomalies v4.34	SOX11	Achchuthan Shanmugasundram Source NHS GMS was added to SOX11. Mode of inheritance for gene SOX11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, OMIM:615866 for gene: SOX11 Publications for gene: SOX11 were updated from to 33785884; 24886874; 31530938; 33086258; 33430815
29 Aug 2024	Fetal anomalies v4.34	SMARCD1	Achchuthan Shanmugasundram gene: SMARCD1 was added gene: SMARCD1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SMARCD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCD1 were set to 30879640 Phenotypes for gene: SMARCD1 were set to Coffin-Siris syndrome 11, OMIM:618779
29 Aug 2024	Fetal anomalies v4.34	SMAD6	Achchuthan Shanmugasundram gene: SMAD6 was added gene: SMAD6 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMAD6 were set to 22275001; 31138930; 32499606; 27606499 Phenotypes for gene: SMAD6 were set to {Craniosynostosis 7, susceptibility to}, OMIM:617439; Aortic valve disease 2, OMIM:614823; {Radioulnar synostosis, nonsyndromic}, OMIM:179300
29 Aug 2024	Fetal anomalies v4.34	SMAD2	Achchuthan Shanmugasundram gene: SMAD2 was added gene: SMAD2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMAD2 were set to 30157302; 29967133; 23665959 Phenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome 6, OMIM:619656; Congenital heart defects, multiple types, 8, with or without heterotaxy, OMIM:619657
29 Aug 2024	Fetal anomalies v4.34	SHMT2	Achchuthan Shanmugasundram gene: SHMT2 was added gene: SHMT2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SHMT2 were set to 33015733 Phenotypes for gene: SHMT2 were set to Polymicrogyria; corpus callosum anomalies; Microcephaly; Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121
29 Aug 2024	Fetal anomalies v4.34	SEMA3A	Achchuthan Shanmugasundram gene: SEMA3A was added gene: SEMA3A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: SEMA3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEMA3A were set to 20301509; 22927827; 24124006; 33369061; 21059704; 28075028 Phenotypes for gene: SEMA3A were set to skeletal anomalies; {Hypogonadotropic hypogonadism 16 with or without anosmia, OMIM:614897; congenital heart disease
29 Aug 2024	Fetal anomalies v4.34	SCN3A	Achchuthan Shanmugasundram Source NHS GMS was added to SCN3A. Mode of inheritance for gene SCN3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Epileptic encephalopathy, early infantile, 62, OMIM:617938; Epilepsy, familial focal, with variable foci 4, OMIM:617935; Intellectual disability; Malformations of cortical development for gene: SCN3A Publications for gene: SCN3A were updated from to 29740860; 32515017; 30146301
29 Aug 2024	Fetal anomalies v4.34	RNU12	Achchuthan Shanmugasundram gene: RNU12 was added gene: RNU12 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: RNU12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RNU12 were set to 34085356 Phenotypes for gene: RNU12 were set to Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations; CDAGS syndrome, OMIM:603116
29 Aug 2024	Fetal anomalies v4.34	RHOA	Achchuthan Shanmugasundram gene: RHOA was added gene: RHOA was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: RHOA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RHOA were set to Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, OMIM:618727
29 Aug 2024	Fetal anomalies v4.34	PRR12	Achchuthan Shanmugasundram gene: PRR12 was added gene: PRR12 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PRR12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRR12 were set to 29556724; 33314030 Phenotypes for gene: PRR12 were set to Neuroocular syndrome, OMIM:619539; Complex microphthalmia
29 Aug 2024	Fetal anomalies v4.34	PPP3CA	Achchuthan Shanmugasundram Source NHS GMS was added to PPP3CA. Mode of inheritance for gene PPP3CA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM:618265 for gene: PPP3CA Publications for gene: PPP3CA were updated from to 28942967; 33082562; 29432562
29 Aug 2024	Fetal anomalies v4.34	PPP1R13L	Achchuthan Shanmugasundram gene: PPP1R13L was added gene: PPP1R13L was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPP1R13L were set to 32666529; 28864777 Phenotypes for gene: PPP1R13L were set to Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519
29 Aug 2024	Fetal anomalies v4.34	PPIL1	Achchuthan Shanmugasundram gene: PPIL1 was added gene: PPIL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PPIL1 were set to 33220177 Phenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia, type 14, OMIM:619301
29 Aug 2024	Fetal anomalies v4.34	POLD1	Achchuthan Shanmugasundram Source Expert Review Amber was added to POLD1. Source NHS GMS was added to POLD1. Mode of inheritance for gene POLD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381 for gene: POLD1 Publications for gene: POLD1 were updated from to 23770608 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
29 Aug 2024	Fetal anomalies v4.34	PLEC	Achchuthan Shanmugasundram gene: PLEC was added gene: PLEC was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PLEC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PLEC were set to 28824526; 31509265; 22144912; 21263134; 21109228; 20624679 Phenotypes for gene: PLEC were set to Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723; Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950; Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138; Epidermolysis bullosa simplex with muscular dystrophy, OMIM:226670
29 Aug 2024	Fetal anomalies v4.34	PKP2	Achchuthan Shanmugasundram gene: PKP2 was added gene: PKP2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PKP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKP2 were set to 33082562 Phenotypes for gene: PKP2 were set to Severe cardiomyopathy with left ventricular noncompaction
29 Aug 2024	Fetal anomalies v4.34	PIDD1	Achchuthan Shanmugasundram gene: PIDD1 was added gene: PIDD1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PIDD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PIDD1 were set to 33414379; 28397838; 34163010; 29302074 Phenotypes for gene: PIDD1 were set to Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, OMIM:619827
29 Aug 2024	Fetal anomalies v4.34	PI4KA	Achchuthan Shanmugasundram gene: PI4KA was added gene: PI4KA was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PI4KA were set to 34415310 Phenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
29 Aug 2024	Fetal anomalies v4.34	PARP6	Achchuthan Shanmugasundram gene: PARP6 was added gene: PARP6 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PARP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PARP6 were set to 34067418 Phenotypes for gene: PARP6 were set to Microcephaly; Intellectual disability; Epilepsy
29 Aug 2024	Fetal anomalies v4.34	PAM16	Achchuthan Shanmugasundram gene: PAM16 was added gene: PAM16 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: PAM16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAM16 were set to 27354339; 24786642 Phenotypes for gene: PAM16 were set to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM:613320
29 Aug 2024	Fetal anomalies v4.34	ORAI1	Achchuthan Shanmugasundram gene: ORAI1 was added gene: ORAI1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ORAI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ORAI1 were set to 31448844 Phenotypes for gene: ORAI1 were set to Myopathy, tubular aggregate, 2, OMIM:615883
29 Aug 2024	Fetal anomalies v4.34	NUP188	Achchuthan Shanmugasundram gene: NUP188 was added gene: NUP188 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: NUP188 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP188 were set to 28726809; 32021605; 32275884 Phenotypes for gene: NUP188 were set to microcephaly; ID; Sandestig-Stefanova syndrome, OMIM:618804; structural brain abnormalities; cataract
29 Aug 2024	Fetal anomalies v4.34	NPRL3	Achchuthan Shanmugasundram gene: NPRL3 was added gene: NPRL3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: NPRL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NPRL3 were set to 27173016; 33461085; 35136953; 26285051 Phenotypes for gene: NPRL3 were set to Epilepsy, familial focal, with variable foci 3, OMIM:617118
29 Aug 2024	Fetal anomalies v4.34	NPRL2	Achchuthan Shanmugasundram gene: NPRL2 was added gene: NPRL2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: NPRL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NPRL2 were set to 29281825; 31625153; 22268191; 27173016; 33461085 Phenotypes for gene: NPRL2 were set to Epilepsy, familial focal, with variable foci 2, OMIM:617116
29 Aug 2024	Fetal anomalies v4.34	NKX2-6	Achchuthan Shanmugasundram gene: NKX2-6 was added gene: NKX2-6 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: NKX2-6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NKX2-6 were set to 32198970; 15649947; 24421281; 25319568; 25380965 Phenotypes for gene: NKX2-6 were set to Persistent truncus arteriosus, OMIM:217095; Conotruncal heart malformations, OMIM:217095
29 Aug 2024	Fetal anomalies v4.34	NFIA	Achchuthan Shanmugasundram gene: NFIA was added gene: NFIA was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: NFIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: NFIA were set to 32926563; 35018717; 36553517; 33973697 Phenotypes for gene: NFIA were set to Brain malformations with or without urinary tract defects, OMIM:613735
29 Aug 2024	Fetal anomalies v4.34	NCAPD2	Achchuthan Shanmugasundram gene: NCAPD2 was added gene: NCAPD2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: NCAPD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NCAPD2 were set to 27737959; 28097321; 31056748 Phenotypes for gene: NCAPD2 were set to Microcephaly 21, primary, autosomal recessive, OMIM:617983
29 Aug 2024	Fetal anomalies v4.34	MYSM1	Achchuthan Shanmugasundram gene: MYSM1 was added gene: MYSM1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYSM1 were set to 33082562 Phenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, OMIM:618116
29 Aug 2024	Fetal anomalies v4.34	MYBPC3	Achchuthan Shanmugasundram Source NHS GMS was added to MYBPC3. Mode of inheritance for gene MYBPC3 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cardiomyopathy, hypertrophic, 4, OMIM:115197 for gene: MYBPC3 Publications for gene: MYBPC3 were updated from 19858127; 28749478 to 19858127; 16679492; 28749478; 17937428
29 Aug 2024	Fetal anomalies v4.34	MINPP1	Achchuthan Shanmugasundram gene: MINPP1 was added gene: MINPP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MINPP1 were set to 33168985; 33257696 Phenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia, type 16, OMIM:619527
29 Aug 2024	Fetal anomalies v4.34	MED27	Achchuthan Shanmugasundram gene: MED27 was added gene: MED27 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED27 were set to 33443317 Phenotypes for gene: MED27 were set to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia - MIM#619286
29 Aug 2024	Fetal anomalies v4.34	MED25	Achchuthan Shanmugasundram gene: MED25 was added gene: MED25 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MED25 were set to 32324310; 25792360; 32816121 Phenotypes for gene: MED25 were set to Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; hypospadias, thin corpus callosum, cerebral ventricular dilatation; multiple congenital anomalies; congenital heart defects; Basel-Vanagait-Smirin-Yosef syndrome, OMIM:616449
29 Aug 2024	Fetal anomalies v4.34	MCIDAS	Achchuthan Shanmugasundram gene: MCIDAS was added gene: MCIDAS was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MCIDAS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCIDAS were set to 25048963; 32802948; 30237576 Phenotypes for gene: MCIDAS were set to Hydrocephalus; Ciliary dyskinesia, primary, 42, OMIM:618695; Choroid plexus hyperplasia; Arachnoid cyst
29 Aug 2024	Fetal anomalies v4.34	MAST1	Achchuthan Shanmugasundram gene: MAST1 was added gene: MAST1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAST1 were set to 32818970; 32198973; 31721002; 30449657 Phenotypes for gene: MAST1 were set to cerebellar hypoplasia; corpus callosum anomalies; cortical malformations; Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, OMIM:61827
29 Aug 2024	Fetal anomalies v4.34	MAPKAPK5	Achchuthan Shanmugasundram gene: MAPKAPK5 was added gene: MAPKAPK5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAPKAPK5 were set to 35575217; 33442026 Phenotypes for gene: MAPKAPK5 were set to Neurocardiofaciodigital syndrome, OMIM:619869
29 Aug 2024	Fetal anomalies v4.34	MAPK8IP3	Achchuthan Shanmugasundram gene: MAPK8IP3 was added gene: MAPK8IP3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MAPK8IP3 were set to 30945334; 30612693 Phenotypes for gene: MAPK8IP3 were set to cerebral atrophy; Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443; corpus callosum anomalies; polymicrogyria
29 Aug 2024	Fetal anomalies v4.34	MAP1B	Achchuthan Shanmugasundram gene: MAP1B was added gene: MAP1B was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MAP1B were set to 33772511; 30150678; 31317654; 30214071 Phenotypes for gene: MAP1B were set to Polymicrogyria; Periventricular nodular heterotopia 9, OMIM:618918
29 Aug 2024	Fetal anomalies v4.34	MAB21L1	Achchuthan Shanmugasundram gene: MAB21L1 was added gene: MAB21L1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAB21L1 were set to 30487245 Phenotypes for gene: MAB21L1 were set to Cerebellar, ocular, craniofacial, and genital syndrome OMIM:618479
29 Aug 2024	Fetal anomalies v4.34	KDM1A	Achchuthan Shanmugasundram Source NHS GMS was added to KDM1A. Mode of inheritance for gene KDM1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728 for gene: KDM1A Publications for gene: KDM1A were updated from to 27094131; 24838796; 26656649
29 Aug 2024	Fetal anomalies v4.34	INTS1	Achchuthan Shanmugasundram gene: INTS1 was added gene: INTS1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: INTS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: INTS1 were set to 28542170; 31428919; 30622326 Phenotypes for gene: INTS1 were set to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:61857
29 Aug 2024	Fetal anomalies v4.34	IKZF1	Achchuthan Shanmugasundram gene: IKZF1 was added gene: IKZF1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: IKZF1 were set to 33082562 Phenotypes for gene: IKZF1 were set to Immunodeficiency, common variable, 13, OMIM:616873
29 Aug 2024	Fetal anomalies v4.34	IFT74	Achchuthan Shanmugasundram gene: IFT74 was added gene: IFT74 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT74 were set to 32144365; 27486776; 33531668 Phenotypes for gene: IFT74 were set to Bardet-Biedl syndrome 22, OMIM:617119; Joubert syndrome 40, OMIM:619582
29 Aug 2024	Fetal anomalies v4.34	IFT27	Achchuthan Shanmugasundram gene: IFT27 was added gene: IFT27 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: IFT27 were set to 25443296; 24488770; 26763875; 30761183 Phenotypes for gene: IFT27 were set to Bardet-Biedl syndrome 19, OMIM:615996
29 Aug 2024	Fetal anomalies v4.34	HYAL2	Achchuthan Shanmugasundram gene: HYAL2 was added gene: HYAL2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HYAL2 were set to 23172227; 28081210; 26515055; 34906488 Phenotypes for gene: HYAL2 were set to congenital cardiac malformations; Cleft lip and palate; cor triatriatum
29 Aug 2024	Fetal anomalies v4.34	HS2ST1	Achchuthan Shanmugasundram gene: HS2ST1 was added gene: HS2ST1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HS2ST1 were set to 33159882 Phenotypes for gene: HS2ST1 were set to arthrogryposis; Neurofacioskeletal syndrome with or without renal agenesis, OMIM:619194; multiple congenital anomalies
29 Aug 2024	Fetal anomalies v4.34	HOXA2	Achchuthan Shanmugasundram gene: HOXA2 was added gene: HOXA2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: HOXA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: HOXA2 were set to 32649979; 27503514; 28109504; 18394579; 23775976; 31567444 Phenotypes for gene: HOXA2 were set to Microtia with or without hearing impairment (AD), OMIM:612290
29 Aug 2024	Fetal anomalies v4.34	HERC1	Achchuthan Shanmugasundram gene: HERC1 was added gene: HERC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: HERC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HERC1 were set to 28323226; 26138117; 27108999; 26153217 Phenotypes for gene: HERC1 were set to Macrocephaly, dysmorphic facies, and psychomotor retardation, OMIM:617011
29 Aug 2024	Fetal anomalies v4.34	GHR	Achchuthan Shanmugasundram Source Expert Review Amber was added to GHR. Source NHS GMS was added to GHR. Added phenotypes Growth hormone insensitivity, partial, OMIM:604271; Laron dwarfism, OMIM:262500 for gene: GHR Publications for gene: GHR were updated from to 9360502 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
29 Aug 2024	Fetal anomalies v4.34	GATA5	Achchuthan Shanmugasundram gene: GATA5 was added gene: GATA5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: GATA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GATA5 were set to 33082562 Phenotypes for gene: GATA5 were set to Congenital heart defects, multiple types, 5, OMIM:617912
29 Aug 2024	Fetal anomalies v4.34	FRA10AC1	Achchuthan Shanmugasundram gene: FRA10AC1 was added gene: FRA10AC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRA10AC1 were set to 34694367 Phenotypes for gene: FRA10AC1 were set to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, OMIM:620113
29 Aug 2024	Fetal anomalies v4.34	FOXJ1	Achchuthan Shanmugasundram gene: FOXJ1 was added gene: FOXJ1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FOXJ1 were set to 31630787 Phenotypes for gene: FOXJ1 were set to Ciliary dyskinesia, primary, 43, OMIM:618699
29 Aug 2024	Fetal anomalies v4.34	FBRSL1	Achchuthan Shanmugasundram gene: FBRSL1 was added gene: FBRSL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FBRSL1 were set to 32424618; 34805182 Phenotypes for gene: FBRSL1 were set to congenital heart defect; Congenital malformations
29 Aug 2024	Fetal anomalies v4.34	FAT1	Achchuthan Shanmugasundram gene: FAT1 was added gene: FAT1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: FAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAT1 were set to 34013115; 33418956; 34202629; 26905694; 32902815; 30862798 Phenotypes for gene: FAT1 were set to hand and foot anomalies; nephropathy; ocular anomalies; multiple congenital anomalies
29 Aug 2024	Fetal anomalies v4.34	EXOSC9	Achchuthan Shanmugasundram gene: EXOSC9 was added gene: EXOSC9 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: EXOSC9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC9 were set to 30690203; 33040083; 29727687 Phenotypes for gene: EXOSC9 were set to Pontocerebellar hypoplasia, type 1D, OMIM:618065
29 Aug 2024	Fetal anomalies v4.34	EXOSC8	Achchuthan Shanmugasundram gene: EXOSC8 was added gene: EXOSC8 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC8 were set to 24989451; 34210538 Phenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C, OMIM:616081
29 Aug 2024	Fetal anomalies v4.34	EXOSC5	Achchuthan Shanmugasundram gene: EXOSC5 was added gene: EXOSC5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: EXOSC5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOSC5 were set to 32504085; 29302074 Phenotypes for gene: EXOSC5 were set to Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, OMIM:619576
29 Aug 2024	Fetal anomalies v4.34	ERGIC1	Achchuthan Shanmugasundram gene: ERGIC1 was added gene: ERGIC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ERGIC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERGIC1 were set to 31230720; 28317099; 34037256 Phenotypes for gene: ERGIC1 were set to Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100
29 Aug 2024	Fetal anomalies v4.34	EMC1	Achchuthan Shanmugasundram Source NHS GMS was added to EMC1. Mode of inheritance for gene EMC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875 for gene: EMC1 Publications for gene: EMC1 were updated from to 29271071; 26942288
29 Aug 2024	Fetal anomalies v4.34	EDN3	Achchuthan Shanmugasundram gene: EDN3 was added gene: EDN3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: EDN3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: EDN3 were set to 9359047; 27370713; 11303518; 10231870; 8630502; 30171849 Phenotypes for gene: EDN3 were set to Central hypoventilation syndrome, congenital, OMIM:209880; Waardenburg syndrome, type 4B, OMIM:613265; {Hirschsprung disease, susceptibility to, 4}, OMIM:613712
29 Aug 2024	Fetal anomalies v4.34	DICER1	Achchuthan Shanmugasundram gene: DICER1 was added gene: DICER1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DICER1 were set to 35114704; 29343557; 33208384; 31232238; 27960159; 24676357; 26227654 Phenotypes for gene: DICER1 were set to GLOW syndrome, somatic mosaic, OMIM:618272; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors , OMIM:138800; Pleuropulmonary blastoma, OMIM:601200
29 Aug 2024	Fetal anomalies v4.34	D2HGDH	Achchuthan Shanmugasundram gene: D2HGDH was added gene: D2HGDH was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria, OMIM:600721
29 Aug 2024	Fetal anomalies v4.34	CWF19L1	Achchuthan Shanmugasundram gene: CWF19L1 was added gene: CWF19L1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CWF19L1 were set to 27016154 Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17, OMIM:616127
29 Aug 2024	Fetal anomalies v4.34	COL25A1	Achchuthan Shanmugasundram Source NHS GMS was added to COL25A1. Source Expert Review Red was added to COL25A1. Added phenotypes Arthrogryposis multiplex congenita, MONDO:0015168 for gene: COL25A1 Publications for gene: COL25A1 were updated from to 26437029; 35077597 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
29 Aug 2024	Fetal anomalies v4.34	COA7	Achchuthan Shanmugasundram gene: COA7 was added gene: COA7 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COA7 were set to 27683825; 29718187 Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, OMIM:618387
29 Aug 2024	Fetal anomalies v4.34	CITED2	Achchuthan Shanmugasundram gene: CITED2 was added gene: CITED2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: CITED2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CITED2 were set to 16287139; 29536580; 33706167; 31515672; 11694877; 33439552 Phenotypes for gene: CITED2 were set to Atrial septal defect 8, OMIM:614433; Ventricular septal defect 2, OMIM:614431; Congenital heart disease
29 Aug 2024	Fetal anomalies v4.34	BCAS3	Achchuthan Shanmugasundram gene: BCAS3 was added gene: BCAS3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCAS3 were set to 34022130 Phenotypes for gene: BCAS3 were set to Hengel-Maroofian-Schols syndrome, OMIM:619641
29 Aug 2024	Fetal anomalies v4.34	ARL3	Achchuthan Shanmugasundram gene: ARL3 was added gene: ARL3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARL3 were set to 30269812; 16565502 Phenotypes for gene: ARL3 were set to Joubert syndrome 35, OMIM:618161
29 Aug 2024	Fetal anomalies v4.34	ARID2	Achchuthan Shanmugasundram Source NHS GMS was added to ARID2. Mode of inheritance for gene ARID2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Coffin-Siris syndrome 6, OMIM:617808 for gene: ARID2 Publications for gene: ARID2 were updated from to 28884947; 26238514; 35813374; 30838730; 28124119; 29698805
29 Aug 2024	Fetal anomalies v4.34	ARF1	Achchuthan Shanmugasundram gene: ARF1 was added gene: ARF1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ARF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ARF1 were set to 28868155; 34353862 Phenotypes for gene: ARF1 were set to Periventricular nodular heterotopia 8, OMIM:618185
29 Aug 2024	Fetal anomalies v4.34	ANKLE2	Achchuthan Shanmugasundram gene: ANKLE2 was added gene: ANKLE2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ANKLE2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ANKLE2 were set to 31735666; 25259927; 30214071 Phenotypes for gene: ANKLE2 were set to Microcephaly 16, primary, autosomal recessive, OMIM:616681
29 Aug 2024	Fetal anomalies v4.34	ALPK3	Achchuthan Shanmugasundram gene: ALPK3 was added gene: ALPK3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ALPK3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALPK3 were set to 26846950; 28630369 Phenotypes for gene: ALPK3 were set to Cardiomyopathy, familial hypertrophic 27, OMIM:618052
29 Aug 2024	Fetal anomalies v4.34	ALG14	Achchuthan Shanmugasundram gene: ALG14 was added gene: ALG14 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALG14 were set to 34971077; 23404334; 28733338; 30221345 Phenotypes for gene: ALG14 were set to ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227; Myopathy, epilepsy, and progressive cerebral atrophy, OMIM:619036
29 Aug 2024	Fetal anomalies v4.34	ALDH1A2	Achchuthan Shanmugasundram gene: ALDH1A2 was added gene: ALDH1A2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ALDH1A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ALDH1A2 were set to 33565183; 36263470 Phenotypes for gene: ALDH1A2 were set to Diaphragmatic hernia 4, with cardiovascular defects, OMIM:620025
29 Aug 2024	Fetal anomalies v4.34	ADAMTS19	Achchuthan Shanmugasundram gene: ADAMTS19 was added gene: ADAMTS19 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ADAMTS19 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ADAMTS19 were set to 31844321; 32323311 Phenotypes for gene: ADAMTS19 were set to Cardiac valvular dysplasia 2, OMIM:620067
29 Aug 2024	Fetal anomalies v4.34	ACSL4	Achchuthan Shanmugasundram Source NHS GMS was added to ACSL4. Source Expert Review Red was added to ACSL4. Added phenotypes Mental retardation, X-linked 63 , OMIM:300387 for gene: ACSL4 Publications for gene: ACSL4 were updated from to 12525535 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
29 Aug 2024	Fetal anomalies v4.34	ABHD16A	Achchuthan Shanmugasundram gene: ABHD16A was added gene: ABHD16A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ABHD16A were set to 34866177; 34489854; 34587489 Phenotypes for gene: ABHD16A were set to Spastic paraplegia 86, autosomal recessive, OMIM:619735
29 Jul 2024	Fetal anomalies v4.33	GATA1	Sarah Leigh changed review comment from: Three GATA1 variants have been associated with OMIM:301083, including fetal hydrops in at least three unrelated cases (PMID: 20301538; 30914438; 29949202; 35580337).; to: Three GATA1 variants have been associated with OMIM:301083, including fetal hydrops in at least three unrelated cases (PMID: 20301538; 30914438; 29949202; 35580337). This gene could be relevant to the fetal anomalies panel.
29 Jul 2024	Fetal anomalies v4.31	SNORD118	Sarah Leigh Tag locus-type-small-nucleolar tag was added to gene: SNORD118.
29 Jul 2024	Fetal anomalies v4.31	RNU4ATAC	Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC.
26 Jun 2024	Fetal anomalies v4.23	USP14	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are four unrelated families snd functional evidence in support of the association of this gene to this panel. Hence, this gene can be promoted to green rating in the next GMS review.; to: Comment on list classification: There are four unrelated families and functional evidence in support of the association of this gene to this panel. Hence, this gene can be promoted to green rating in the next GMS review.
26 Jun 2024	Fetal anomalies v4.23	USP14	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated families snd functional evidence in support of the association of this gene to this panel. Hence, this gene can be promoted to green rating in the next GMS review.
26 Jun 2024	Fetal anomalies v4.21	USP14	Achchuthan Shanmugasundram Phenotypes for gene: USP14 were changed from Syndromic disease MONDO:0002254, USP14-related to syndromic disease, MONDO:0002254; distal arthrogryposis, MONDO:0019942
26 Jun 2024	Fetal anomalies v4.20	USP14	Achchuthan Shanmugasundram reviewed gene: USP14: Rating: GREEN; Mode of pathogenicity: None; Publications: 35066879, 38469793; Phenotypes: syndromic disease, MONDO:0002254, distal arthrogryposis, MONDO:0019942; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
26 Jun 2024	Fetal anomalies v4.17	KCNT1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Sarah Graham, PMID:36307859 reported a foetus with increased nuchal translucency and bilateral choroid plexus cysts. Hence, the rating can be updated from red to amber.
26 Jun 2024	Fetal anomalies v4.15	KCNK9	Achchuthan Shanmugasundram Added comment: Comment on list classification: There are several unrelated cases reported with KCNK9 variants and Birk-Barel syndrome (MIM #612292). Clinical presentations include motor and speech delay, impaired intellectual development, early feeding difficulties, muscular hypotonia, behavioral abnormalities and dysmorphic features. In addition, this gene has also been associated with phenotypes on the DD panel of Gene2Phenotype resource with 'limited' rating. As reviewed by Sarah Graham, a foetus has also been reported with KCNK9 variant and with phenotypes consistent with this disorder. Hence, this gene can be promoted to green rating in the next GMS update.
26 Jun 2024	Fetal anomalies v4.14	KCNK9	Achchuthan Shanmugasundram Phenotypes for gene: KCNK9 were changed from to Birk-Barel syndrome, OMIM:612292
26 Jun 2024	Fetal anomalies v4.12	KCNK9	Achchuthan Shanmugasundram reviewed gene: KCNK9: Rating: GREEN; Mode of pathogenicity: None; Publications: 36307859; Phenotypes: Birk-Barel syndrome, OMIM:612292; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
26 Jun 2024	Fetal anomalies v4.12	GNB2	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Sarah Graham, monoallelic GNB2 variants are associated with a neurodevelopmental disorder with features including dysmorphic facial features, cardiac and renal abnormalities. This gene has been associated with phenotypes in OMIM (MIM #619503) and DD panel of Gene2Phenotype resource (with 'Definitive' rating, previously known as 'confirmed'). A foetus was also reported with phenotypes consistent with this gene. Hence, this gene can be promoted to green rating in the next GMS update.
26 Jun 2024	Fetal anomalies v4.9	CLCN5	Achchuthan Shanmugasundram changed review comment from: Comment on list classification: AS reviewed by Sarah Graham, this gene has been rated red in this panel.; to: Comment on list classification: As reviewed by Sarah Graham, this gene has been rated red in this panel.
26 Jun 2024	Fetal anomalies v4.9	CLCN5	Achchuthan Shanmugasundram Added comment: Comment on list classification: AS reviewed by Sarah Graham, this gene has been rated red in this panel.
26 Jun 2024	Fetal anomalies v4.7	ARV1	Achchuthan Shanmugasundram Classified gene: ARV1 as Amber List (moderate evidence)
26 Jun 2024	Fetal anomalies v4.7	ARV1	Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Sarah Graham, there are four cases from three different families (including two foetuses from a single family) reported with biallelic ARV1 variants and prenatal abnormalities. However, it should be noted that multiple major structural anomalies were not reported in these cases. Hence, this gene should be rated amber with the current evidence.
26 Jun 2024	Fetal anomalies v4.7	ARV1	Achchuthan Shanmugasundram Gene: arv1 has been classified as Amber List (Moderate Evidence).
26 Jun 2024	Fetal anomalies v4.6	ARV1	Achchuthan Shanmugasundram Phenotypes for gene: ARV1 were changed from to Developmental and epileptic encephalopathy 38, OMIM:617020
26 Jun 2024	Fetal anomalies v4.5	ARV1	Achchuthan Shanmugasundram Publications for gene: ARV1 were set to PMID: 36307859; 34296759
26 Jun 2024	Fetal anomalies v4.4	ARV1	Achchuthan Shanmugasundram reviewed gene: ARV1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34296759, 36307859; Phenotypes: Developmental and epileptic encephalopathy 38, OMIM:617020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Jun 2024	Fetal anomalies v4.4	CLCN5	Sarah Leigh Phenotypes for gene: CLCN5 were changed from to Dent disease 1, OMIM:300009; Hypophosphatemic rickets, OMIM:300554; Nephrolithiasis, type I, OMIM:310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, OMIM:308990
15 Jun 2024	Fetal anomalies v4.3	GNB2	Sarah Graham gene: GNB2 was added gene: GNB2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: GNB2 were set to 36658419 Mode of pathogenicity for gene: GNB2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: GNB2 was set to GREEN Added comment: Gene associated with autosomal dominant neurodevelopmental disorder; features include dysmorphic facial features, cardiac and renal abnormalities (OMIM #619503). Recurrent de novo pathogenic missense variant p.(Lys89Glu) (https://www.ncbi.nlm.nih.gov/clinvar/variation/1217306/) reported in a fetus with phenotype consistent with this gene: cardiac abnormalities (hypoplastic left heart and hypoplastic aortic arch, double outlet right ventricle, great arteries located side-by-side, ventricular septal defect, persistent left superior vena cava connecting to coronary sinus), renal agenesis, mildly dysmorphic facies (Byrne 2023 PMID: 36658419). Sources: Literature
15 Jun 2024	Fetal anomalies v4.3	KCNT1	Sarah Graham reviewed gene: KCNT1: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 36307859; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
15 Jun 2024	Fetal anomalies v4.3	CLCN5	Sarah Graham gene: CLCN5 was added gene: CLCN5 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CLCN5 were set to 36307859; 36495297; 37229200 Review for gene: CLCN5 was set to RED Added comment: Loss-of-function variants associated with X-linked recessive renal tubular disorders. Maternally inherited hemizygous splice variant, c.934-1G>T, reported in 3 male fetuses with variable phenotypes across 3 studies from the same centre. Phenotypes in reported cases: polyhydramnios and large size for gestational age (Fu 2022 PMID: 36307859, case 229); growth restriction, polyhydramnios, pre-term birth at 31 weeks (Zhou 2023 PMID: 36495297, patient 5); microcephaly (Wang 2023 PMID: 37229200, patient 18). No definitive evidence that this variant is pathogenic. As all prenatal reports are of the same variant and from the same centre, concern that these may be incidental findings due to variant frequency in the local population (variant absent from gnomAD). Sources: Literature
15 Jun 2024	Fetal anomalies v4.3	ARV1	Sarah Graham gene: ARV1 was added gene: ARV1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ARV1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ARV1 were set to PMID: 36307859; 34296759 Review for gene: ARV1 was set to AMBER Added comment: Biallelic loss-of-function variants associated with autosomal recessive developmental and epileptic encephalopathy-38 (DEE38). Biallelic variants reported prenatally in 3 families (4 fetuses) in association with abnormal scan findings, particularly renal abnormalities. Renal abnormalities are not a common postnatal finding in this disorder, so causal relationship to scan findings is unclear. Salian 2021 PMID: 34296759, patient 3 - compound heterozygous frameshift and missense variants, p.(Pro174Alafs14) and p.(Cys34Tyr), with prenatal hydronephrosis, postnatally profound ID, seizures, genitourinary abnormalities. Salian 2021 PMID: 34296759, Patients 5/6 (successive pregnancies of consanguineous parents) - homozygous c.674-1G>A; patient 5 termination at week 22 due to megaureter, small femora and humeri and narrow thorax; patient 6 NT 6.3 mm at week 14, bilaterally dilated renal pelvis at week 16+1. Fu 2022 PMID: 36307859 - compound het frameshift variants, p.(Glu137Asnfs13) and p.(Pro174Alafs*14), reported in a fetus with dilation of lateral ventricles and polyhydramnios. Sources: Literature
14 Jun 2024	Fetal anomalies v4.3	KCNK9	Sarah Graham gene: KCNK9 was added gene: KCNK9 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: KCNK9 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Publications for gene: KCNK9 were set to PMID: 36307859 Review for gene: KCNK9 was set to GREEN Added comment: The recurrent p.(Gly236Arg) variant is well established as the cause of KCNK9 Imprinting Syndrome / Birk-Barel Syndrome (OMIM #612292) when present on the maternal allele. This variant has been reported as a de novo finding on exome sequencing in a fetus with scan findings consistent with this disorder (micrognathia, cleft palate). PMID: 36307859 Sources: Literature
02 Jun 2024	Fetal anomalies v4.1	MDFIC	Dmitrijs Rots gene: MDFIC was added gene: MDFIC was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MDFIC was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MDFIC were set to PMID: 35235341 Phenotypes for gene: MDFIC were set to conducting lymphatic anomaly with lymphedema Review for gene: MDFIC was set to GREEN Added comment: Six independet families with specific phenotype and AR inheritance + mouse model. Enough for green rating. Sources: Literature
31 May 2024	Fetal anomalies v4.1	CELSR1	Stephanie Allen changed review comment from: This gene and phenotype were re-reviewed by the fetal anomaly panel review group in May 2024. Suggest downgrade to amber: Clingen presentation - 3 phenotypes linked NTD as a susceptibility locus only, epilepsy no obvious prenatal link. Lymphatic malformations good evidence for truncating variants only. Variable expressivity/penetrance in males. Females earliest onset reported form birth but no evidence of hydrops. Usual onset adolescents. Not enough evidence, suggest Amber to watch for link to hydrops.; to: This gene and phenotype were re-reviewed by the fetal anomaly panel review group in May 2024. Suggest downgrade to amber: Clingen presentation - 3 phenotypes linked NTD as a susceptibility locus only, epilepsy no obvious prenatal link. Lymphatic malformations good evidence for truncating variants only. Variable expressivity/penetrance in males. Females earliest onset reported form birth but no evidence of hydrops. Usual onset adolescents. Not enough evidence, suggest Amber to watch for link to hydrops.
24 Apr 2024	Fetal anomalies v3.163	PCNT	Arina Puzriakova Phenotypes for gene: PCNT were changed from MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
24 Apr 2024	Fetal anomalies v3.162	RNU4ATAC	Arina Puzriakova Phenotypes for gene: RNU4ATAC were changed from MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I to Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710
24 Apr 2024	Fetal anomalies v3.160	XRCC4	Arina Puzriakova Phenotypes for gene: XRCC4 were changed from PRIMORDIAL DWARFISM to Short stature, microcephaly, and endocrine dysfunction, OMIM:616541
23 Apr 2024	Fetal anomalies v3.157	USP14	Zornitza Stark gene: USP14 was added gene: USP14 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: USP14 were set to 38469793 Phenotypes for gene: USP14 were set to Syndromic disease MONDO:0002254, USP14-related Review for gene: USP14 was set to AMBER Added comment: PMID 38469793: biallelic USP14 variants in four individuals from three unrelated families: one fetus, a newborn with a syndromic NDD, and two siblings affected by a progressive neurological disease. Specifically, the two siblings from the latter family carried two compound heterozygous variants c.8T>C p.(Leu3Pro) and c.988C>T p.(Arg330), while the fetus had a homozygous frameshift c.899_902del p.(Lys300Serfs24) variant and the newborn patient harbored a homozygous frameshift c.233_236del p.(Leu78Glnfs*11) variant. The fetus and the newborn had extensive brain malformations. Sources: Literature
23 Apr 2024	Fetal anomalies v3.157	PLD1	Arina Puzriakova changed review comment from: Comment on list classification: This Green gene was signed off in Nov 2022 but now flagging for another review by the GMS specialist group in the context of the conflicting Red review by Jesse Hayesmoore (Oxford Regional Genetics Laboratory) to determine whether this gene should be downgraded.; to: Comment on list classification: This Green gene was signed off in Mar 2023 but now flagging for another review by the GMS specialist group in the context of the conflicting Red review by Jesse Hayesmoore (Oxford Regional Genetics Laboratory) to determine whether this gene should be downgraded.
23 Apr 2024	Fetal anomalies v3.156	PLD1	Arina Puzriakova commented on gene: PLD1: Copied review from Paediatric or syndromic cardiomyopathy (749) v3.43 panel: Jesse Hayesmoore (Oxford Regional Genetics Laboratory) Red List (low evidence) "On the basis of functional data described in PMIDs: 27799408 and 33645542, PLD1 certainly seems to be a plausible functional candidate for causality of cardiac valvular defects. The main paper linking this gene with congenital heart disease / cardiomyopathy is Lahrouchi et al. (2021; PMID: 33645542; note this also includes the same 2 cases as described in Ta-Shma et al. 2017 PMID: 27799408). The paper presents 19 families with severe fetal- / neonatal-onset congenital heart (mainly valvular) defects and 2 with cardiomyopathy where affected babies were homozygous or compound heterozygous for PLD1 variants. The paper also provides some functional analysis of missense variants detected, showing that many but not all of them result significant loss of PLD1 function. Unfortunately, the paper does not include a LOD score, and there is very little cosegregation data presented for any of the variants. In addition, 4 of the 31 variants they promote as pathogenic for autosomal recessive disease are detected in multiple homozygous individuals on gnomAD, which I think provides significant evidence that they might not be pathogenic for a severe autosomal recessive condition. Most notably, 1 of the variants (i.e. I668F), which the authors promote as a pathogenic Ashkenazi Jewish founder variant (but which is also fairly frequent in non-Finnish Europeans) is detected in 7 homozygotes on gnomAD and was found to have ~80% loss of PLD1 function in their assay. This suggests that significant loss of function of this gene (i.e. down to 20%) might not be causative of a severe recessive condition (that is not to say that total or near total loss of function is not causative). Three other of the variants promoted as pathogenic in this article are also detected in homozygotes on gnomAD. I think one of the major pieces of missing information required to make a full assessment of this gene’s linkage to disease is that is unknown how frequent biallelic (apparently loss of function) variant genotypes are in the general population or in healthy control individuals. Although homozygosity for any one variant can be determined from gnomAD, compound heterozygosity (which is likely to represent the vast majority of biallelic genotypes) cannot be assessed on gnomAD, and I can find no record in the literature of this being assessed in a normal control cohort. Without this information, we cannot know whether biallelic PLD1 genotypes are specific to babies with this severe phenotype. Without knowing this, and in the absence of any significant cosegregation data for any variant, there is no reasonable basis upon which one can conclude that this is a valid autosomal recessive gene for the phenotype. Without such validation, PVS1 cannot be applied for any apparent loss of function variant. Given this, and the general lack of cosegregation data for any one variant, I do not believe there is any PLD1 variant reported in the literature that could be classified as anything but uncertain significance (if not benign or likely benign) on the basis of current variant classification guidelines. Also, there are only two cases of biallelic variants in neonates where the primary phenotype is cardiomyopathy, and of these only one was dilated cardiomyopathy (the other was histiocytoid cardiomyopathy). Hence, the evidence linking this gene to cardiomyopathy is even weaker than it is for valvular defects. I, therefore, do not feel there is sufficient evidence to justify this gene being tested as part of the R135 paediatric cardiomyopathy gene panel. Other papers (e.g. PMIDs: 33142350, 35380090, 36923242, 37770978) reporting a link between PLD1 genotypes and early onset cardiac disease (not cardiomyopathy) have been published. However, again, I do not think there is sufficient data in the articles to allow any of the variants detected to be confidently classified as anything but VUS according to current variant classification guidelines." Created: 31 Jan 2024, 12:04 p.m. \| Last Modified: 31 Jan 2024, 12:17 p.m
17 Apr 2024	Fetal anomalies v3.155	GRM1	Arina Puzriakova Added comment: Comment on list classification: Demoted from Amber to Red inline with review by Zornitza Stark. Could not find any evidence of prenatal phenotypes in patients with GRM1 variants.
16 Apr 2024	Fetal anomalies v3.154	ADA	Arina Puzriakova Phenotypes for gene: ADA were changed from Combined B and T cell defect; Adenosine deaminase deficiency (Disorders of purine metabolism); SCID; Infantile enterocolitis & monogenic inflammatory bowel disease to Severe combined immunodeficiency due to ADA deficiency, OMIM:102700; Adenosine deaminase deficiency, partial, OMIM:102700
15 Apr 2024	Fetal anomalies v3.152	NRXN2	Sarah Leigh Added comment: Comment on list classification: There insufficient evidence between NRXN2 variants and autism for this gene to be rated amber.
15 Apr 2024	Fetal anomalies v3.151	RRAS	Sarah Leigh edited their review of gene: RRAS: Added comment: RRAS variants have not associated with a phenotype in OMIM or MONDO, but Gen2Phen lists a strong association between RRAS variants and RRAS-related atypical Noonan syndrome. Three germline RRAS variants have been reported (PMID: 24705357; 32815881; 34935735), associated with a RASopathy, which includes myelodysplastic syndrome and contributes to leukaemogenesis.; Changed rating: GREEN; Changed publications to: 24705357, 32815881, 34935735
25 Mar 2024	Fetal anomalies v3.145	STAMBP	Arina Puzriakova Phenotypes for gene: STAMBP were changed from MICROCEPHALYÐCAPILLARY MALFORMATION (MIC-CAP) SYNDROME to Microcephaly-capillary malformation syndrome, OMIM:614261
20 Mar 2024	Fetal anomalies v3.142	ROBO1	Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from 'monoallelic' to 'both mono- and biallelic' at the next GMS panel update. Biallelic variants in the ROBO1 gene are associated with neurooculorenal syndrome (OMIM:620305). Clinical manifestations are generally highly variable and involve several organ systems. However, some cases do present in utero with renal agenesis and structural brain abnormalities (PMID: 29194579; 35227688) indicating that the phenotype is relevant to this panel.
12 Mar 2024	Fetal anomalies v3.140	SPATA5	Arina Puzriakova Phenotypes for gene: SPATA5 were changed from EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME to Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577
04 Mar 2024	Fetal anomalies v3.138	SMARCAL1	Arina Puzriakova Phenotypes for gene: SMARCAL1 were changed from SCHIMKE IMMUNOOSSEOUS DYSPLASIA to Schimke immunoosseous dysplasia, OMIM:242900
01 Mar 2024	Fetal anomalies v3.137	NHEJ1	Arina Puzriakova Phenotypes for gene: NHEJ1 were changed from Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 611291 to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, OMIM:611291
31 Jan 2024	Fetal anomalies v3.133	TUSC3	Arina Puzriakova Phenotypes for gene: TUSC3 were changed from MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 7 to Intellectual developmental disorder, autosomal recessive 7, OMIM:611093
31 Jan 2024	Fetal anomalies v3.132	CC2D1A	Arina Puzriakova Phenotypes for gene: CC2D1A were changed from MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 to Intellectual developmental disorder, autosomal recessive 3, OMIM:608443
31 Jan 2024	Fetal anomalies v3.131	ASPM	Arina Puzriakova Phenotypes for gene: ASPM were changed from PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY to Microcephaly 5, primary, autosomal recessive, OMIM:608716
23 Jan 2024	Fetal anomalies v3.127	PRX	Arina Puzriakova Phenotypes for gene: PRX were changed from Charcot-Marie-Tooth disease, type 4F 614895; Dejerine-Sottas disease 145900 to Dejerine-Sottas disease, OMIM; 145900
23 Jan 2024	Fetal anomalies v3.126	PRX	Arina Puzriakova Added comment: Comment on mode of inheritance: Updated from 'both mono- and biallelic' to 'biallelic' as only recessive cases have been reported in literature. OMIM states AD/AR inheritance for Dejerine-Sottas disease as this can be caused by both heterozygous and homozygous variants in other genes (e.g. PMP22, EGR2) but seemingly not in PRX.
03 Jan 2024	Fetal anomalies v3.123	SLC12A6	Arina Puzriakova Phenotypes for gene: SLC12A6 were changed from AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY to Charcot-Marie-Tooth disease, axonal, type 2II, OMIM:620068; Agenesis of the corpus callosum with peripheral neuropathy, OMIM:218000
05 Dec 2023	Fetal anomalies v3.122	KMT2B	Arina Puzriakova Phenotypes for gene: KMT2B were changed from Complex early-onset dystonia to Dystonia 28, childhood-onset, OMIM:617284; Complex early-onset dystonia
02 Nov 2023	Fetal anomalies v3.115	FAM111A	Sarah Leigh Added comment: Comment on mode of inheritance: PMID: 34382758 reports an autosomal recessive case of Kenny-Caffey Syndrome Type 2. The proband had inherited FAM111A variants from his healthy parents (paternal heterozygous missense variant c.976T>A (p.L326I) and maternal heterozygous in-frame deletion variant c.1714_1716del (p.Ile572del, rs779963813)).
10 Oct 2023	Fetal anomalies v3.111	EARS2	Sarah Leigh Tag Q2_23_promote_green was removed from gene: EARS2. Tag Q2_23_NHS_review was removed from gene: EARS2.
10 Oct 2023	Fetal anomalies v3.111	DARS2	Sarah Leigh Tag Q2_23_promote_green was removed from gene: DARS2. Tag Q2_23_NHS_review was removed from gene: DARS2.
10 Oct 2023	Fetal anomalies v3.111	AARS2	Sarah Leigh Tag Q2_23_promote_green was removed from gene: AARS2. Tag Q2_23_NHS_review was removed from gene: AARS2.
10 Oct 2023	Fetal anomalies v3.111	EARS2	Sarah Leigh reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
10 Oct 2023	Fetal anomalies v3.111	DARS2	Sarah Leigh reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
10 Oct 2023	Fetal anomalies v3.111	AARS2	Sarah Leigh reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
10 Oct 2023	Fetal anomalies v3.110	EARS2	Sarah Leigh Source Expert Review Green was added to EARS2. Source NHS GMS was added to EARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
10 Oct 2023	Fetal anomalies v3.110	DARS2	Sarah Leigh Source Expert Review Green was added to DARS2. Source NHS GMS was added to DARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
10 Oct 2023	Fetal anomalies v3.110	AARS2	Sarah Leigh Source Expert Review Green was added to AARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
01 Sep 2023	Fetal anomalies v3.109	ESAM	Julia Baptista gene: ESAM was added gene: ESAM was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESAM were set to PMID: 36996813 Phenotypes for gene: ESAM were set to intracranial hemorrhage; cerebral anomalies Review for gene: ESAM was set to GREEN Added comment: Four fetuses from three unrelated families (different LOF biallelic variants) with fetal intracranial hemorrhage. Fetal brain tissue from one of the affected individuals at 31 weeks' gestational age showed lack of ESAM staining in the capillary endothelial cells, thus confirming loss of ESAM. Another individual had an abnormal prenatal ultrasound and the pregnancy was terminated at 32 weeks' gestation, but no DNA was available to test for the familial variant. Neurodevelopmental disorder with cerebral calcifications, hydrocephalus, focal white matter lesions, retina anomalies and dysmorphic features. Sources: Literature
31 Aug 2023	Fetal anomalies v3.109	TP63	Arina Puzriakova Phenotypes for gene: TP63 were changed from ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE; ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3; SPLIT-HAND/FOOT MALFORMATION TYPE 4; ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE; LIMB-MAMMARY SYNDROME; NON-SYNDROMIC OROFACIAL CLEFT TYPE 8; ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME to ADULT syndrome, OMIM:103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Hay-Wells syndrome, OMIM:106260; Limb-mammary syndrome, OMIM:603543; Orofacial cleft 8, OMIM:618149; Rapp-Hodgkin syndrome, OMIM:129400; Split-hand/foot malformation 4, OMIM:605289
24 Aug 2023	Fetal anomalies v3.108	UQCRB	Arina Puzriakova Phenotypes for gene: UQCRB were changed from MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRB-RELATED to Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158
15 Aug 2023	Fetal anomalies v3.106	SPTAN1	Sarah Leigh Phenotypes for gene: SPTAN1 were changed from EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 to Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277
10 Aug 2023	Fetal anomalies v3.105	SLC12A1	Sarah Leigh Phenotypes for gene: SLC12A1 were changed from Bartter syndrome, type 1 601678 to Bartter syndrome, type 1, OMIM:601678; Bartter disease type 1, MONDO:0100344
10 Aug 2023	Fetal anomalies v3.103	CLCNKB	Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for CLCNKB should be BIALLELIC, autosomal or pseudoautosomal. Although digenic CLCNKB & CLCNKA variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090), the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
08 Aug 2023	Fetal anomalies v3.101	CLCNKB	Sarah Leigh Phenotypes for gene: CLCNKB were changed from BARTTER SYNDROME TYPE 4B to Bartter syndrome, type 3, OMIM:607364; Bartter disease type 3, MONDO:0011822; Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 4B, MONDO:0000909
08 Aug 2023	Fetal anomalies v3.99	SLC22A5	Sarah Leigh changed review comment from: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).
01 Aug 2023	Fetal anomalies v3.98	ATP5O	Sarah Leigh Phenotypes for gene: ATP5O were changed from Mitochondrial complex V (ATP synthase) deficiency to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
01 Aug 2023	Fetal anomalies v3.96	SLC25A24	Sarah Leigh Added comment: Comment on phenotypes: Gorlin-Chaudhry-Moss syndrome (GCMS);Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
01 Aug 2023	Fetal anomalies v3.96	SLC25A24	Sarah Leigh Phenotypes for gene: SLC25A24 were changed from Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction to Fontaine progeroid syndrome, OMIM; 612289; Fontaine progeroid syndrome, MONDO:0012853
01 Aug 2023	Fetal anomalies v3.94	SLC22A5	Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).
01 Aug 2023	Fetal anomalies v3.93	SLC22A5	Sarah Leigh Phenotypes for gene: SLC22A5 were changed from SYSTEMIC PRIMARY CARNITINE DEFICIENCY to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
30 May 2023	Fetal anomalies v3.89	ETFB	Sarah Leigh Phenotypes for gene: ETFB were changed from GLUTARIC ACIDURIA TYPE 2B to Glutaric acidemia IIB, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
30 May 2023	Fetal anomalies v3.88	ETFA	Sarah Leigh Phenotypes for gene: ETFA were changed from GLUTARIC ACIDURIA TYPE 2A to Glutaric acidemia IIA, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
22 May 2023	Fetal anomalies v3.86	PRKACB	Arina Puzriakova gene: PRKACB was added gene: PRKACB was added to Fetal anomalies. Sources: Expert Review Amber,Literature Q2_23_promote_green tags were added to gene: PRKACB. Mode of inheritance for gene: PRKACB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PRKACB were set to 33058759 Phenotypes for gene: PRKACB were set to Cardioacrofacial dysplasia 2, OMIM:619143 Penetrance for gene: PRKACB were set to unknown Mode of pathogenicity for gene: PRKACB was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
22 May 2023	Fetal anomalies v3.85	PRKACA	Arina Puzriakova gene: PRKACA was added gene: PRKACA was added to Fetal anomalies. Sources: Expert Review Amber,Literature Q2_23_promote_green tags were added to gene: PRKACA. Mode of inheritance for gene: PRKACA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: PRKACA were set to 33058759; 31130284 Phenotypes for gene: PRKACA were set to Cardioacrofacial dysplasia 1, OMIM:619142
17 May 2023	Fetal anomalies v3.84	CHUK	Arina Puzriakova Phenotypes for gene: CHUK were changed from COCOON SYNDROME to Cocoon syndrome, OMIM:613630; Popliteal pterygium syndrome, Bartsocas-Papas type 2, OMIM:619339
10 May 2023	Fetal anomalies v3.81	GRIN2B	Arina Puzriakova Phenotypes for gene: GRIN2B were changed from AUTISM; EPILEPTIC ENCEPHALOPATHY; MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 to Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970; Developmental and epileptic encephalopathy 27, OMIM:616139
09 May 2023	Fetal anomalies v3.78	WNT9B	Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Not yet associated with any phenotype in OMIM or G2P. Rating Amber as to date, only two cases have been reported in one paper but with a watchlist tag to monitor for additional cases.
09 May 2023	Fetal anomalies v3.77	WLS	Arina Puzriakova Added comment: Comment on list classification: There are sufficient unrelated cases with different homozygous variants in this gene and a consistent phenotype to support a gene-disease association. Some features such as microcephaly and digit malformations may plausibly be detected prenatally and therefore suggesting this gene is rated Green at the next GMS panel update.
05 May 2023	Fetal anomalies v3.70	MECOM	Arina Puzriakova Phenotypes for gene: MECOM were changed from Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia; Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738 to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738
05 May 2023	Fetal anomalies v3.68	WARS2	Arina Puzriakova Publications for gene: WARS2 were set to
05 May 2023	Fetal anomalies v3.67	VARS2	Arina Puzriakova Publications for gene: VARS2 were set to
05 May 2023	Fetal anomalies v3.49	PET100	Arina Puzriakova Phenotypes for gene: PET100 were changed from MITOCHONDRIAL COMPLEX IV DEFICIENCY; Mitochondrial complex IV deficiency, nuclear type 12, OMIM:619055 to Mitochondrial complex IV deficiency, nuclear type 12, OMIM:619055
05 May 2023	Fetal anomalies v3.44	PC	Arina Puzriakova Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency, OMIM:266150; PYRUVATE CARBOXYLASE DEFICIENCY to Pyruvate carboxylase deficiency, OMIM:266150
05 May 2023	Fetal anomalies v3.41	NDUFS1	Arina Puzriakova Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226; MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY; LEIGH SYNDROME to Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226
05 May 2023	Fetal anomalies v3.36	NDUFB11	Arina Puzriakova Phenotypes for gene: NDUFB11 were changed from Linear skin defects with multiple congenital anomalies 3, OMIM:300952; Cardiomyopathy; Agenesis of corpus callosum (ACC) to ?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021; Linear skin defects with multiple congenital anomalies 3, OMIM:300952; Cardiomyopathy; Agenesis of corpus callosum (ACC)
05 May 2023	Fetal anomalies v3.35	NDUFB10	Arina Puzriakova Phenotypes for gene: NDUFB10 were changed from Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003; Mitochondrial complex I deficiency, nuclear type 35 , OMIM:619003 to Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003
05 May 2023	Fetal anomalies v3.21	EARS2	Arina Puzriakova Publications for gene: EARS2 were set to
05 May 2023	Fetal anomalies v3.20	EARS2	Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: EARS2. Tag Q2_23_NHS_review tag was added to gene: EARS2.
05 May 2023	Fetal anomalies v3.18	DARS2	Arina Puzriakova Phenotypes for gene: DARS2 were changed from LEUKOENCEPHALOPATHY WITH BRAINSTEM AND SPINAL CORD INVOLVEMENT AND LACTATE ELEVATION; Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105 to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105
05 May 2023	Fetal anomalies v3.17	DARS2	Arina Puzriakova Publications for gene: DARS2 were set to
05 May 2023	Fetal anomalies v3.16	DARS2	Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: DARS2. Tag Q2_23_NHS_review tag was added to gene: DARS2.
05 May 2023	Fetal anomalies v3.10	AARS2	Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: AARS2. Tag Q2_23_NHS_review tag was added to gene: AARS2.
05 May 2023	Fetal anomalies v3.10	AARS2	Arina Puzriakova Phenotypes for gene: AARS2 were changed from Leukoencephalopathy, progressive, with ovarian failure, OMIM:615889; fetal hydrops; cardiomyopathy; polyhydramnios; Combined oxidative phosphorylation deficiency 8, OMIM:614096; pulmonary effusion to Leukoencephalopathy, progressive, with ovarian failure, OMIM:615889; Combined oxidative phosphorylation deficiency 8, OMIM:614096; fetal hydrops; cardiomyopathy; polyhydramnios; pulmonary effusion
05 May 2023	Fetal anomalies v3.9	AARS2	Arina Puzriakova Publications for gene: AARS2 were set to 30819764
05 May 2023	Fetal anomalies v3.8	ZMYM2	Stephanie Allen commented on gene: ZMYM2: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
05 May 2023	Fetal anomalies v3.8	CLCN4	Stephanie Allen commented on gene: CLCN4: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
05 May 2023	Fetal anomalies v3.8	MECOM	Stephanie Allen commented on gene: MECOM: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
05 May 2023	Fetal anomalies v3.8	TRMU	Stephanie Allen commented on gene: TRMU: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Red gene.
05 May 2023	Fetal anomalies v3.8	NDUFA12	Stephanie Allen commented on gene: NDUFA12: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Red gene.
05 May 2023	Fetal anomalies v3.8	WARS2	Stephanie Allen commented on gene: WARS2: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
05 May 2023	Fetal anomalies v3.8	VARS2	Stephanie Allen commented on gene: VARS2: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
05 May 2023	Fetal anomalies v3.8	UQCC2	Stephanie Allen commented on gene: UQCC2: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
05 May 2023	Fetal anomalies v3.8	TXN2	Stephanie Allen commented on gene: TXN2: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
05 May 2023	Fetal anomalies v3.8	TRIT1	Stephanie Allen commented on gene: TRIT1: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
05 May 2023	Fetal anomalies v3.8	TMEM65	Stephanie Allen commented on gene: TMEM65: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
05 May 2023	Fetal anomalies v3.8	POLG	Stephanie Allen commented on gene: POLG: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
05 May 2023	Fetal anomalies v3.8	NDUFV2	Stephanie Allen commented on gene: NDUFV2: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
05 May 2023	Fetal anomalies v3.8	NDUFC2	Stephanie Allen commented on gene: NDUFC2: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
05 May 2023	Fetal anomalies v3.8	NDUFB7	Stephanie Allen commented on gene: NDUFB7: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
05 May 2023	Fetal anomalies v3.8	NADK2	Stephanie Allen commented on gene: NADK2: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
05 May 2023	Fetal anomalies v3.8	MTPAP	Stephanie Allen commented on gene: MTPAP: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Amber gene.
05 May 2023	Fetal anomalies v3.8	UQCRFS1	Stephanie Allen commented on gene: UQCRFS1: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
05 May 2023	Fetal anomalies v3.8	TK2	Stephanie Allen commented on gene: TK2: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
05 May 2023	Fetal anomalies v3.8	PNPLA8	Stephanie Allen commented on gene: PNPLA8: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
05 May 2023	Fetal anomalies v3.8	PET100	Stephanie Allen commented on gene: PET100: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
05 May 2023	Fetal anomalies v3.8	PDHX	Stephanie Allen commented on gene: PDHX: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
05 May 2023	Fetal anomalies v3.8	PDHB	Stephanie Allen commented on gene: PDHB: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
05 May 2023	Fetal anomalies v3.8	PC	Stephanie Allen commented on gene: PC: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
05 May 2023	Fetal anomalies v3.8	NDUFS1	Stephanie Allen commented on gene: NDUFS1: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
05 May 2023	Fetal anomalies v3.8	NDUFB3	Stephanie Allen commented on gene: NDUFB3: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
05 May 2023	Fetal anomalies v3.8	NDUFB11	Stephanie Allen commented on gene: NDUFB11: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
05 May 2023	Fetal anomalies v3.8	NDUFB10	Stephanie Allen commented on gene: NDUFB10: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
05 May 2023	Fetal anomalies v3.8	NDUFAF8	Stephanie Allen commented on gene: NDUFAF8: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
05 May 2023	Fetal anomalies v3.8	NDUFA6	Stephanie Allen commented on gene: NDUFA6: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
05 May 2023	Fetal anomalies v3.8	MTFMT	Stephanie Allen commented on gene: MTFMT: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
05 May 2023	Fetal anomalies v3.8	MRPS14	Stephanie Allen commented on gene: MRPS14: This gene and phenotype were reviewed during a meeting on 2nd March 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, (North Thames GLH), and Stephanie Allen, Denise Williams, Anna de Burca and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
05 May 2023	Fetal anomalies v3.8	EARS2	Stephanie Allen commented on gene: EARS2: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
05 May 2023	Fetal anomalies v3.8	DARS2	Stephanie Allen commented on gene: DARS2: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
05 May 2023	Fetal anomalies v3.8	AARS2	Stephanie Allen commented on gene: AARS2: This gene and phenotype were reviewed during a meeting on 23rd Feb 2023 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Natalie Chandler (North Thames GLH), and Stephanie Allen, Esther Kinning and Megan Horton-Bell (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
05 May 2023	Fetal anomalies v3.8	ZMYM2	Stephanie Allen reviewed gene: ZMYM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, OMIM:619522; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
05 May 2023	Fetal anomalies v3.8	AGTR1	Stephanie Allen reviewed gene: AGTR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 16116425, 22095942; Phenotypes: Renal tubular dysgenesis, OMIM:267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 May 2023	Fetal anomalies v3.8	MECOM	Stephanie Allen reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: ; Publications: 29540340, 26581901; Phenotypes: Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
05 May 2023	Fetal anomalies v3.8	WARS2	Stephanie Allen reviewed gene: WARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: 30920170, 28905505, 35074316, 29783990; Phenotypes: Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, OMIM:617710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 May 2023	Fetal anomalies v3.8	VARS2	Stephanie Allen reviewed gene: VARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: 33937156, 29314548, 29478218; Phenotypes: Combined oxidative phosphorylation deficiency 20, OMIM:615917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 May 2023	Fetal anomalies v3.8	UQCRFS1	Stephanie Allen reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31883641; Phenotypes: Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 May 2023	Fetal anomalies v3.8	UQCC2	Stephanie Allen reviewed gene: UQCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28804536, 24385928; Phenotypes: Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 May 2023	Fetal anomalies v3.8	SLC25A46	Stephanie Allen reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: ; Publications: 28653766, 35012485, 27543974, 26951855; Phenotypes: Pontocerebellar hypoplasia, type 1E, OMIM:619303; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 May 2023	Fetal anomalies v3.8	SLC25A1	Stephanie Allen reviewed gene: SLC25A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 23393310, 24687295, 25614306; Phenotypes: Combined D-2- and L-2-hydroxyglutaric aciduria, OMIM:615182; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 May 2023	Fetal anomalies v3.8	SDHD	Stephanie Allen reviewed gene: SDHD: Rating: RED; Mode of pathogenicity: ; Publications: 26008905; Phenotypes: Mitochondrial complex II deficiency, nuclear type 3, OMIM:619167; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 May 2023	Fetal anomalies v3.8	PET100	Stephanie Allen reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: ; Publications: 25293719; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 12, OMIM:619055; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 May 2023	Fetal anomalies v3.8	PC	Stephanie Allen reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: ; Publications: 30870574, 29752808, 34485016, 10323732; Phenotypes: Pyruvate carboxylase deficiency, OMIM:266150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 May 2023	Fetal anomalies v3.8	NDUFV2	Stephanie Allen reviewed gene: NDUFV2: Rating: AMBER; Mode of pathogenicity: ; Publications: 26008862; Phenotypes: Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 May 2023	Fetal anomalies v3.8	NDUFS1	Stephanie Allen reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20382551, 31557978; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 May 2023	Fetal anomalies v3.8	NDUFC2	Stephanie Allen reviewed gene: NDUFC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 32969598; Phenotypes: Mitochondrial complex I deficiency, nuclear type 36, OMIM:619170; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 May 2023	Fetal anomalies v3.8	NDUFB7	Stephanie Allen reviewed gene: NDUFB7: Rating: AMBER; Mode of pathogenicity: ; Publications: 33502047; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 May 2023	Fetal anomalies v3.8	NDUFB3	Stephanie Allen reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27091925, 22277967; Phenotypes: Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 May 2023	Fetal anomalies v3.8	NDUFB11	Stephanie Allen reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: ; Publications: 25772934; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021, Linear skin defects with multiple congenital anomalies 3, OMIM:300952; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
05 May 2023	Fetal anomalies v3.8	NDUFB10	Stephanie Allen reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: 31130284, 28040730; Phenotypes: Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 May 2023	Fetal anomalies v3.8	NDUFAF8	Stephanie Allen reviewed gene: NDUFAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 31866046; Phenotypes: Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 May 2023	Fetal anomalies v3.8	NDUFA6	Stephanie Allen reviewed gene: NDUFA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 30245030; Phenotypes: Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 May 2023	Fetal anomalies v3.8	NDUFA12	Stephanie Allen reviewed gene: NDUFA12: Rating: RED; Mode of pathogenicity: ; Publications: 32341820, 35141356; Phenotypes: Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 May 2023	Fetal anomalies v3.8	MTFMT	Stephanie Allen reviewed gene: MTFMT: Rating: GREEN; Mode of pathogenicity: ; Publications: 27393152, 30911575; Phenotypes: Combined oxidative phosphorylation deficiency 15, OMIM:614947, Mitochondrial complex I deficiency, nuclear type 27, OMIM:618248; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 May 2023	Fetal anomalies v3.8	MPC2	Stephanie Allen reviewed gene: MPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 36417180; Phenotypes: Mitochondrial pyruvate carrier deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 May 2023	Fetal anomalies v3.8	MPC1	Stephanie Allen reviewed gene: MPC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 34873722, 31145700; Phenotypes: Mitochondrial pyruvate carrier deficiency, OMIM:614741; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 May 2023	Fetal anomalies v3.8	EARS2	Stephanie Allen reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27571996, 31680123; Phenotypes: Combined oxidative phosphorylation deficiency 12, OMIM:614924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 May 2023	Fetal anomalies v3.8	DARS2	Stephanie Allen reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33977142; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 May 2023	Fetal anomalies v3.8	COX14	Stephanie Allen reviewed gene: COX14: Rating: AMBER; Mode of pathogenicity: ; Publications: 22243966; Phenotypes: ?Mitochondrial complex IV deficiency, nuclear type 10 , OMIM:619053; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 May 2023	Fetal anomalies v3.8	COQ7	Stephanie Allen reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: ; Publications: 26084283, 31240163; Phenotypes: ?Coenzyme Q10 deficiency, primary, 8, OMIM:616733; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 May 2023	Fetal anomalies v3.8	COA6	Stephanie Allen reviewed gene: COA6: Rating: AMBER; Mode of pathogenicity: ; Publications: 22277967, 25339201; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 May 2023	Fetal anomalies v3.8	AARS2	Stephanie Allen reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30819764, 28822227, 21549344; Phenotypes: Combined oxidative phosphorylation deficiency 8, OMIM:614096, Leukoencephalopathy, progressive, with ovarian failure, OMIM:615889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 May 2023	Fetal anomalies v3.7	ZMYM2	Arina Puzriakova gene: ZMYM2 was added gene: ZMYM2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: ZMYM2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ZMYM2 were set to Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, OMIM:619522
05 May 2023	Fetal anomalies v3.7	AGTR1	Arina Puzriakova gene: AGTR1 was added gene: AGTR1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: AGTR1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AGTR1 were set to Renal tubular dysgenesis, OMIM:267430
05 May 2023	Fetal anomalies v3.7	MECOM	Arina Puzriakova Added phenotypes Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738 for gene: MECOM
05 May 2023	Fetal anomalies v3.7	PET100	Arina Puzriakova Added phenotypes Mitochondrial complex IV deficiency, nuclear type 12, OMIM:619055 for gene: PET100
05 May 2023	Fetal anomalies v3.7	NDUFB10	Arina Puzriakova Added phenotypes Mitochondrial complex I deficiency, nuclear type 35, OMIM:619003 for gene: NDUFB10
05 May 2023	Fetal anomalies v3.7	PC	Arina Puzriakova Source Expert Review Amber was added to PC. Added phenotypes Pyruvate carboxylase deficiency, OMIM:266150 for gene: PC Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
05 May 2023	Fetal anomalies v3.7	NDUFS1	Arina Puzriakova Source Expert Review Amber was added to NDUFS1. Added phenotypes Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226 for gene: NDUFS1 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
05 May 2023	Fetal anomalies v3.7	DARS2	Arina Puzriakova Source Expert Review Amber was added to DARS2. Added phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105 for gene: DARS2 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
05 May 2023	Fetal anomalies v3.7	SDHD	Arina Puzriakova gene: SDHD was added gene: SDHD was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: SDHD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDHD were set to Mitochondrial complex II deficiency, nuclear type 3, OMIM:619167
05 May 2023	Fetal anomalies v3.7	NDUFA12	Arina Puzriakova gene: NDUFA12 was added gene: NDUFA12 was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA12 were set to Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244
05 May 2023	Fetal anomalies v3.7	WARS2	Arina Puzriakova gene: WARS2 was added gene: WARS2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: WARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WARS2 were set to Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, OMIM:617710
05 May 2023	Fetal anomalies v3.7	VARS2	Arina Puzriakova gene: VARS2 was added gene: VARS2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: VARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VARS2 were set to Combined oxidative phosphorylation deficiency 20, OMIM:615917
05 May 2023	Fetal anomalies v3.7	UQCRFS1	Arina Puzriakova gene: UQCRFS1 was added gene: UQCRFS1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCRFS1 were set to Mitochondrial complex III deficiency, nuclear type 10, OMIM:618775
05 May 2023	Fetal anomalies v3.7	UQCC2	Arina Puzriakova gene: UQCC2 was added gene: UQCC2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: UQCC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: UQCC2 were set to Mitochondrial complex III deficiency, nuclear type 7, OMIM:615824
05 May 2023	Fetal anomalies v3.7	SLC25A46	Arina Puzriakova gene: SLC25A46 was added gene: SLC25A46 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A46 were set to Pontocerebellar hypoplasia, type 1E, OMIM:619303
05 May 2023	Fetal anomalies v3.7	SLC25A1	Arina Puzriakova gene: SLC25A1 was added gene: SLC25A1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria, OMIM:615182
05 May 2023	Fetal anomalies v3.7	NDUFV2	Arina Puzriakova gene: NDUFV2 was added gene: NDUFV2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, nuclear type 7, OMIM:618229
05 May 2023	Fetal anomalies v3.7	NDUFC2	Arina Puzriakova gene: NDUFC2 was added gene: NDUFC2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: NDUFC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFC2 were set to Mitochondrial complex I deficiency, nuclear type 36, OMIM:619170
05 May 2023	Fetal anomalies v3.7	NDUFB7	Arina Puzriakova gene: NDUFB7 was added gene: NDUFB7 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: NDUFB7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFB7 were set to ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135
05 May 2023	Fetal anomalies v3.7	NDUFB3	Arina Puzriakova gene: NDUFB3 was added gene: NDUFB3 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: NDUFB3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFB3 were set to Mitochondrial complex I deficiency, nuclear type 25, OMIM:618246
05 May 2023	Fetal anomalies v3.7	NDUFAF8	Arina Puzriakova gene: NDUFAF8 was added gene: NDUFAF8 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: NDUFAF8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFAF8 were set to Mitochondrial complex I deficiency, nuclear type 34, OMIM:618776
05 May 2023	Fetal anomalies v3.7	NDUFA6	Arina Puzriakova gene: NDUFA6 was added gene: NDUFA6 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NDUFA6 were set to Mitochondrial complex I deficiency, nuclear type 33, OMIM:618253
05 May 2023	Fetal anomalies v3.7	MTFMT	Arina Puzriakova gene: MTFMT was added gene: MTFMT was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: MTFMT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTFMT were set to Combined oxidative phosphorylation deficiency 15, OMIM:614947; Mitochondrial complex I deficiency, nuclear type 27, OMIM:618248
05 May 2023	Fetal anomalies v3.7	MPC2	Arina Puzriakova gene: MPC2 was added gene: MPC2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: MPC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPC2 were set to Mitochondrial pyruvate carrier deficiency
05 May 2023	Fetal anomalies v3.7	MPC1	Arina Puzriakova gene: MPC1 was added gene: MPC1 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: MPC1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MPC1 were set to Mitochondrial pyruvate carrier deficiency, OMIM:614741
05 May 2023	Fetal anomalies v3.7	EARS2	Arina Puzriakova gene: EARS2 was added gene: EARS2 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: EARS2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EARS2 were set to Combined oxidative phosphorylation deficiency 12, OMIM:614924
05 May 2023	Fetal anomalies v3.7	COX14	Arina Puzriakova gene: COX14 was added gene: COX14 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: COX14 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COX14 were set to ?Mitochondrial complex IV deficiency, nuclear type 10 , OMIM:619053
05 May 2023	Fetal anomalies v3.7	COQ7	Arina Puzriakova gene: COQ7 was added gene: COQ7 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: COQ7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ7 were set to ?Coenzyme Q10 deficiency, primary, 8, OMIM:616733
05 May 2023	Fetal anomalies v3.7	COA6	Arina Puzriakova gene: COA6 was added gene: COA6 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: COA6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COA6 were set to Mitochondrial complex IV deficiency, nuclear type 13, OMIM:616501
05 May 2023	Fetal anomalies v3.7	AARS2	Arina Puzriakova Source Expert Review Amber was added to AARS2. Added phenotypes Combined oxidative phosphorylation deficiency 8, OMIM:614096; Leukoencephalopathy, progressive, with ovarian failure, OMIM:615889 for gene: AARS2 Rating Changed from No List (delete) to Amber List (moderate evidence)
03 May 2023	Fetal anomalies v3.5	CDX2	Arina Puzriakova Added comment: Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). At least 8 unrelated families reported with de novo or inherited pathogenic variants in CDX2. Phenotypic findings comprise a broad spectrum of caudal abnormalities including defects of the uro‐recto‐genital tract, vertebrae, and the limbs. Cdx2 mutant mice show a variable phenotype that is comparable to that of patients (including imperforate anus, sirenomelia, posterior vertebral truncations, and bladder anomalies). Overall there is sufficient evidence to promote this gene to Green at the next GMS panel update.
18 Apr 2023	Fetal anomalies v3.2	KIF21A	Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to recommend this gene to NHS GMS for promoting to green rating. There are two unrelated families with homozygous loss of function variants in KIF21A were reported with severe fetal akinesia with arthrogryposis multiplex in PMID:34740919. Hannah Robinson (South West Genomic Laboratory Hub) reported an additional case identified in Exeter Genomics Laboratory exhibiting homozygous nonsense variant in KIF21A and was diagnosed with arthrogryposis. In addition, PMID:32686171 reports overlapping phenotypes observed in KIF21A null piglets, where a 63-bp insertion in exon 2 of the porcine KIF21A gene is associated with arthrogryposis multiplex congenita.
06 Apr 2023	Fetal anomalies v3.1	AARS2	Patrick Campbell gene: AARS2 was added gene: AARS2 was added to Fetal anomalies. Sources: NHS GMS Mode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AARS2 were set to 30819764 Phenotypes for gene: AARS2 were set to fetal hydrops; polyhydramnios; pulmonary effusion; cardiomyopathy Penetrance for gene: AARS2 were set to Complete Mode of pathogenicity for gene: AARS2 was set to Other Review for gene: AARS2 was set to GREEN Added comment: This gene is not on R21. It can cause fetal phenotype and early neonatal death with bi-allelic variants. We had a fetus present locally with fetal hydrops from around 28 weeks. The result was discovered on whole genome sequencing after miscarriage (R14). It would not have been identified on R21 for fetal anomalies. The local finding of presentation antenatally is corroborated by recent publication (PMID 30819764) with a case showing polyhydramnios and nonimmune hydrops, with small pulmonary effusions and significant ascites first detected at 35 wk of pregnancy. Consideration should be given to adding the gene to R21. Sources: NHS GMS
14 Mar 2023	Fetal anomalies v2.17	SMARCC1	Eleanor Williams Phenotypes for gene: SMARCC1 were changed from Congenital hydrocephalus; Aqueductal stenosis; Septal agenesis; Corpus callosum abnormalities to Congenital hydrocephalus; Aqueductal stenosis; Septal agenesis; Corpus callosum abnormalities; {Hydrocephalus, congenital, 5, susceptibility to}, OMIM:620241
14 Mar 2023	Fetal anomalies v2.16	SMARCC1	Eleanor Williams Tag gene-checked was removed from gene: SMARCC1.
08 Mar 2023	Fetal anomalies v2.14	PLXND1	Achchuthan Shanmugasundram gene: PLXND1 was added gene: PLXND1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PLXND1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLXND1 were set to 35396997 Phenotypes for gene: PLXND1 were set to Truncus arteriosus, HP:0001660 Review for gene: PLXND1 was set to GREEN Added comment: 10 individuals including four foetal cases from five unrelated families were identified with biallelic variants in PLXND1 gene and they presented with cardiac defects. The most frequent defect is common arterial trunk (CAT), which is also known as truncus arteriosus, a conotruncal malformation characterized by a single vessel exiting both ventricles. This gene has already been associated with PLXND1-related cardiac malformation syndrome with the confidence category of 'strong' in DD panel of Gene2Phenotype. However, no relevant phenotypes have been currently reported in OMIM. Sources: Literature
07 Mar 2023	Fetal anomalies v2.13	SELENON	Achchuthan Shanmugasundram Phenotypes for gene: SELENON were changed from Myopathy, congenital, with fiber-type disproportion 255310; Muscular dystrophy, rigid spine 602771 to Muscular dystrophy, rigid spine, 1, OMIM:602771
10 Feb 2023	Fetal anomalies v2.11	RAB39B	Achchuthan Shanmugasundram Phenotypes for gene: RAB39B were changed from MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS to Intellectual developmental disorder, X-linked 72, OMIM:300271; Waisman syndrome, OMIM:311510
30 Jan 2023	Fetal anomalies v2.10	LARS2	Arina Puzriakova Tag Q2_21_rating was removed from gene: LARS2.
30 Jan 2023	Fetal anomalies v2.10	LARS2	Arina Puzriakova commented on gene: LARS2: The rating of this gene has been updated to Green following NHS Genomic Medicine Service approval.
30 Jan 2023	Fetal anomalies v2.9	LARS2	Arina Puzriakova Source Expert Review Green was added to LARS2. Source NHS GMS was added to LARS2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
18 Jan 2023	Fetal anomalies v2.8	KIF21A	Hannah Robinson gene: KIF21A was added gene: KIF21A was added to Fetal anomalies. Sources: Literature,NHS GMS Mode of inheritance for gene: KIF21A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF21A were set to 34740919 Phenotypes for gene: KIF21A were set to Arthrogryposis; fetal akinesia Penetrance for gene: KIF21A were set to unknown Review for gene: KIF21A was set to GREEN gene: KIF21A was marked as current diagnostic Added comment: Falb et al 2023 (PMID: 34740919) describe two unrelated families in which biallelic loss of function variants segregated with a severe form of fetal akinesia characterised by arthrogryposis multiplex, pulmonary hypoplasia and variable facial dysmorphisms. Exeter Genomics Laboratory has identified an unrelated third case homozygous for a nonsense variant in KIF21A. The patient had an antenatal diagnosis of talipes, arthrogryposis, polyhydramnios and lack of fetal movements. At birth, all joints displayed fixed flexion deformities, no primitive reflexes, poor muscle bulk and care was re-oriented shortly after birth. Taken together, three unrelated cases including segregation evidence in the published families provides sufficient evidence for the gene-disease association. Sources: Literature, NHS GMS
21 Dec 2022	Fetal anomalies v2.7	PAFAH1B1	Arina Puzriakova Phenotypes for gene: PAFAH1B1 were changed from LISSENCEPHALY TYPE 1; SUBCORTICAL BAND HETEROTOPIA to Lissencephaly 1, OMIM:607432; Subcortical laminar heterotopia, OMIM:607432
21 Dec 2022	Fetal anomalies v2.5	DDX3X	Arina Puzriakova Phenotypes for gene: DDX3X were changed from INTELLECTUAL DIABILITY; Intellectual disability; Mental retardation, X-linked 102, 300958 to Intellectual developmental disorder, X-linked syndromic, Snijders Blok type, OMIM:300958
21 Dec 2022	Fetal anomalies v2.4	COX10	Arina Puzriakova Phenotypes for gene: COX10 were changed from MITOCHONDRIAL COMPLEX IV DEFICIENCY; LEIGH SYNDROME to Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046
07 Dec 2022	Fetal anomalies v2.1	GRM1	Zornitza Stark reviewed gene: GRM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 13 MIM#614831; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
30 Nov 2022	Fetal anomalies v1.993		Eleanor Williams List of related panels changed from R21; Fetal anomalies with a likely genetic cause to R21; Fetal anomalies with a likely genetic cause; Fetal anomalies with a likely genetic cause - non urgent; R412 Panel types changed to GMS Rare Disease Virtual; GMS Rare Disease; GMS signed-off
25 Nov 2022	Fetal anomalies v1.992	TAB2	Arina Puzriakova Phenotypes for gene: TAB2 were changed from CONGENITAL HEART DISEASE, NONSYNDROMIC, 2 to Congenital heart defects, nonsyndromic, 2, OMIM:614980
21 Nov 2022	Fetal anomalies v1.991	PRIM1	Eleanor Williams Phenotypes for gene: PRIM1 were changed from Microcephalic primordial dwarfism, MONDO:0017950 to Microcephalic primordial dwarfism, MONDO:0017950; Primordial dwarfism-immunodeficiency-lipodystrophy syndrome, OMIM:620005
14 Nov 2022	Fetal anomalies v1.990	KDM5C	Arina Puzriakova Phenotypes for gene: KDM5C were changed from MENTAL RETARDATION SYNDROMIC X-LINKED JARID1C-RELATED to Mental retardation, X-linked, syndromic, Claes-Jensen type, OMIM:300534
14 Nov 2022	Fetal anomalies v1.988	KDM5C	Arina Puzriakova Added comment: Comment on mode of inheritance: A subset of female carriers have been shown to have impaired intellectual development and/or developmental delay (PMIDs: 10982473; 16538222; 18697827; 19826449; 21575681; 32279304) showing that females can be symptomatic. Therefore, the MOI should be updated from 'X-linked.. biallelic in females' to 'X-linked.. monoallelic in females may cause disease' at the next GMS panel update. This also reflects the current MOI on all other relevant panels.
03 Nov 2022	Fetal anomalies v1.987	HBA2	Arina Puzriakova Phenotypes for gene: HBA2 were changed from Fetal hydrops; Thalassemia, alpha-, 604131 to Thalassemias, alpha-, OMIM:604131; Fatal hydrops fetalis; Hb Bart syndrome
03 Nov 2022	Fetal anomalies v1.986	HBA1	Arina Puzriakova Phenotypes for gene: HBA1 were changed from Fetal hydrops; Thalassemia, alpha-, 604131 to Thalassemias, alpha-, OMIM:604131; Fatal hydrops fetalis; Hb Bart syndrome
01 Nov 2022	Fetal anomalies v1.985	GRM1	Arina Puzriakova Phenotypes for gene: GRM1 were changed from CONGENITAL CEREBELLAR ATAXIA to Spinocerebellar ataxia, autosomal recessive 13, OMIM:614831
31 Oct 2022	Fetal anomalies v1.984	GDF1	Arina Puzriakova Phenotypes for gene: GDF1 were changed from Congenital heart defects, multiple types; Right atrial isomerism (Ivemark) to Congenital heart defects, multiple types, 6, OMIM:613854; Right atrial isomerism (Ivemark), OMIM:208530
31 Oct 2022	Fetal anomalies v1.983	GATM	Arina Puzriakova Phenotypes for gene: GATM were changed from ARGININE:GLYCINE AMIDINOTRANSFERASE DEFICIENCY to Cerebral creatine deficiency syndrome 3, OMIM:612718
25 Oct 2022	Fetal anomalies v1.981	ADAR	Arina Puzriakova Phenotypes for gene: ADAR were changed from DYSCHROMATOSIS SYMMETRICA HEREDITARIA 1; AICARDI-GOUTIERES SYNDROME ASSOCIATED WITH A TYPE I INTERFERON SIGNATURE to Aicardi-Goutieres syndrome 6, OMIM:615010; Dyschromatosis symmetrica hereditaria, OMIM:127400
13 Oct 2022	Fetal anomalies v1.980	GNAS	Sarah Leigh Phenotypes for gene: GNAS were changed from Pseudohypoparathyroidism Ia, OMIM:103580; pseudohypoparathyroidism type 1A, MONDO:0007078; Pseudohypoparathyroidism Ib, OMIM:603233; pseudohypoparathyroidism type 1B, MONDO:0011301; Pseudohypoparathyroidism Ic, OMIM:612462; pseudohypoparathyroidism type 1C, MONDO:0012911; McCune-Albright syndrome, somatic, mosaic, OMIM:174800; panostotic fibrous dysplasia, MONDO:0043168; Osseous heteroplasia, progressive, OMIM:166350; ACTH-independent macronodular adrenal hyperplasia. OMIM:219080; ACTH-independent macronodular adrenal hyperplasia 1, MONDO:0020735; Pseudopseudohypoparathyroidism, OMIM:612463; pseudopseudohypoparathyroidism, MONDO:0012912 to Pseudohypoparathyroidism Ia, OMIM:103580; pseudohypoparathyroidism type 1A, MONDO:0007078; Pseudohypoparathyroidism Ib, OMIM:603233; pseudohypoparathyroidism type 1B, MONDO:0011301; Pseudohypoparathyroidism Ic, OMIM:612462; pseudohypoparathyroidism type 1C, MONDO:0012911; McCune-Albright syndrome, somatic, mosaic, OMIM:174800; panostotic fibrous dysplasia, MONDO:0043168; Osseous heteroplasia, progressive, OMIM:166350; progressive osseous heteroplasia, MONDO:0008153; ACTH-independent macronodular adrenal hyperplasia. OMIM:219080; ACTH-independent macronodular adrenal hyperplasia 1, MONDO:0020735; Pseudopseudohypoparathyroidism, OMIM:612463; pseudopseudohypoparathyroidism, MONDO:0012912
13 Oct 2022	Fetal anomalies v1.979	GNAS	Sarah Leigh Added comment: Comment on mode of inheritance: Disease causing variants in the GNAS locus have differing expression panels. Pseudohypothyroidism Ia, Ib & Ic are all caused by GNAS variants arising in the maternal alleles, therefore, the mode of inheritance (MOI) for GNAS in these conditions should be monoallelic maternally imprinted. Pseudopseudohypoparathyroidism, OMIM:612463 and Osseous heteroplasia, progressive, OMIM:166350 are associated with variants in the paternal alleles therefore, the mode of inheritance for GNAS in these conditions should be monoallelic paternally imprinted. Because the Fetal anomalies panel is representing various phenotypes, the MOI has been set to monoallelic, imprinted status unknown.
13 Oct 2022	Fetal anomalies v1.978	GNAS	Sarah Leigh Phenotypes for gene: GNAS were changed from GNAS HYPERFUNCTION; ALBRIGHT HEREDITARY OSTEODYSTROPHY; ACTH-INDEPENDENT MACRONODULAR ADRENAL HYPERPLASIA; PSEUDOHYPOPARATHYROIDISM TYPE 1B to Pseudohypoparathyroidism Ia, OMIM:103580; pseudohypoparathyroidism type 1A, MONDO:0007078; Pseudohypoparathyroidism Ib, OMIM:603233; pseudohypoparathyroidism type 1B, MONDO:0011301; Pseudohypoparathyroidism Ic, OMIM:612462; pseudohypoparathyroidism type 1C, MONDO:0012911; McCune-Albright syndrome, somatic, mosaic, OMIM:174800; panostotic fibrous dysplasia, MONDO:0043168; Osseous heteroplasia, progressive, OMIM:166350; ACTH-independent macronodular adrenal hyperplasia. OMIM:219080; ACTH-independent macronodular adrenal hyperplasia 1, MONDO:0020735; Pseudopseudohypoparathyroidism, OMIM:612463; pseudopseudohypoparathyroidism, MONDO:0012912
12 Oct 2022	Fetal anomalies v1.977	AP1S2	Arina Puzriakova changed review comment from: Comment on mode of inheritance: Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles. As no confirmed female cases have been reported and the allelic requirement remains elusive, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease) as this will ensure that both mono and biallelic variants are picked up in females by the pipeline.; to: Comment on mode of inheritance: Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles. As it is not known definitively whether females require a variant on each allele of this gene in order to be affected, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease).
12 Oct 2022	Fetal anomalies v1.977	ROR2	Arina Puzriakova Phenotypes for gene: ROR2 were changed from ROR2-RELATED DISORDERS AR; BRACHYDACTYLY, TYPE B1; ROBINOW SYNDROME, AUTOSOMAL DOMINANT to Brachydactyly, type B1, OMIM:113000 (AD); Robinow syndrome, autosomal recessive, OMIM:268310 (AR)
10 Oct 2022	Fetal anomalies v1.975	DSP	Arina Puzriakova Phenotypes for gene: DSP were changed from Arrhythmogenic right ventricular dysplasia 8 607450; Keratosis palmoplantaris striata II, 612908; Cardiomyopathy, dilated, with woolly hair and keratoderma 605676; Skin fragility-woolly hair syndrome 607655; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis 615821; Epidermolysis bullosa, lethal acantholytic 609638 to Epidermolysis bullosa, lethal acantholytic, OMIM:609638 (AR); Skin fragility-woolly hair syndrome, OMIM:607655 (AR); Keratosis palmoplantaris striata II, OMIM:612908 (AD); Cardiomyopathy, dilated, with woolly hair and keratoderma, OMIM:605676 (AR); Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, OMIM:615821 (AD); Arrhythmogenic right ventricular dysplasia 8, OMIM:607450 (AD)
28 Sep 2022	Fetal anomalies v1.974	COL1A2	Eleanor Williams Added comment: Comment on mode of inheritance: Leaving the MOI as both mono and biallelic for now, but only Ehlers-Danlos syndrome, cardiac valvular type is associated with biallelic variants and this does not seem relevant to the fetal panel. Recommendation to change to Monoallelic only, if the GMS groups agree.
08 Sep 2022	Fetal anomalies v1.969	ST3GAL3	Sarah Leigh Phenotypes for gene: ST3GAL3 were changed from MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12 to Developmental and epileptic encephalopathy 15, OMIM:615006; developmental and epileptic encephalopathy, 15, MONDO:0014003; Intellectual developmental disorder, autosomal recessive 12, OMIM:611090; intellectual disability, autosomal recessive 12, MONDO:0012612
06 Sep 2022	Fetal anomalies v1.967	SETD2	Arina Puzriakova Mode of pathogenicity for gene: SETD2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
02 Sep 2022	Fetal anomalies v1.964	SETD2	Rhiannon Mellis reviewed gene: SETD2: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 32710489, 33255631; Phenotypes: microcephaly, profound intellectual disability, congenital anomalies, dysmorphic facial features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
22 Aug 2022	Fetal anomalies v1.948	NDUFB10	Arina Puzriakova Phenotypes for gene: NDUFB10 were changed from Mitochondrial complex I deficiency to Mitochondrial complex I deficiency, nuclear type 35 , OMIM:619003
22 Aug 2022	Fetal anomalies v1.945	MYBPC3	Arina Puzriakova Added comment: Comment on list classification: New gene added to this panel by Rhiannon Mellis (GOSH). Rating Amber inline with this review, awaiting further evidence supporting that this gene can cause a fetal phenotype. Note that the two fetal cases reported in literature harboured homozygous variants (PMID:19858127; 28749478) although expert reviewer suggests an MOI of 'both mono- and biallelic'
19 Aug 2022	Fetal anomalies v1.934	ENG	Arina Puzriakova Phenotypes for gene: ENG were changed from Telangiectasia, hereditary hemorrhagic, type 1 to Telangiectasia, hereditary hemorrhagic, type 1, OMIM:187300
19 Aug 2022	Fetal anomalies v1.928	DEPDC5	Arina Puzriakova Phenotypes for gene: DEPDC5 were changed from FAMILIAL FOCAL EPILEPSY WITH VARIABLE FOCI to Epilepsy; Structural brain malformations
19 Aug 2022	Fetal anomalies v1.920	CACNA1D	Arina Puzriakova Mode of pathogenicity for gene: CACNA1D was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
19 Aug 2022	Fetal anomalies v1.917	CACNA1D	Arina Puzriakova Phenotypes for gene: CACNA1D were changed from PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES; SINOATRIAL NODE DYSFUNCTION AND DEAFNESS to Primary aldosteronism, seizures, and neurologic abnormalities, OMIM:615474
19 Aug 2022	Fetal anomalies v1.916	C1QBP	Arina Puzriakova Phenotypes for gene: C1QBP were changed from Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies to Combined oxidative phosphorylation deficiency 33, OMIM:617713; Cardiomyopathy; Myopathy; Metabolic acidosis; Ologohydramnios
19 Aug 2022	Fetal anomalies v1.914	ASXL3	Arina Puzriakova Phenotypes for gene: ASXL3 were changed from BAINBRIDGE-ROPERS SYNDROME to Bainbridge-Ropers syndrome, OMIM:615485; Arthrogryposis
19 Aug 2022	Fetal anomalies v1.909	AGT	Arina Puzriakova Phenotypes for gene: AGT were changed from Renal dysgenesis to Renal tubular dysgenesis, OMIM:267430
19 Aug 2022	Fetal anomalies v1.907	ACVRL1	Arina Puzriakova Phenotypes for gene: ACVRL1 were changed from Telangiectasia, hereditary hemorrhagic, type 2 600376 to Telangiectasia, hereditary hemorrhagic, type 2, OMIM:600376
16 Aug 2022	Fetal anomalies v1.905	WNT7B	Arina Puzriakova Added comment: Comment on list classification: New gene added by Julia Baptista. There is sufficient evidence to promote this gene to Green at the next GMS panel update. Three families reported with fetuses with multiple congenital anomalies (PMID: 35790350). Biallelic variants were identified in probands of two families and parents in third family were both heterozygous for a variant found in one of the other families. Although the fetus was not available for testing, the genotype can be inferred as homozygous for the variant given the consistent phenotype between cases. Supportive zebrafish model supports pathogenicity.
14 Aug 2022	Fetal anomalies v1.904	RAB11A	Eleanor Williams Added comment: Comment on list classification: Leaving the rating as amber for now, but with a recommendation of GREEN rating following GMS expert review as to whether the brain anomaly/microcephaly phenotype observed in 5 individuals with missense variants in RAB11A is appropriate for this panel.
14 Aug 2022	Fetal anomalies v1.902	RAB11A	Eleanor Williams Added comment: Comment on mode of pathogenicity: All missense variants but no functional data available.
14 Aug 2022	Fetal anomalies v1.900	RAB11A	Eleanor Williams changed review comment from: PMID: 29100083 - Hamdan et al 2017 - performed WGS on 197 individuals with unexplained Developmental and epileptic encephalopathy and pharmaco-resistant seizures and in their unaffected parents. 2 patients reported with heterozygous missense variants in RAB11A, one of which had seizures (c.244C>T [p.Arg82Cys] variant) in addition to developing severe ID. 2 other individuals with missense variants in RAB11A and some phenotypic data from the DDD project are described. For 3 of the 4 individuals there are brain MRI data which indicate brain abnormalities including partial agenesis of the corpus callosum, or thin corpus collosum. PMID: 33875846 - Bertoli-Avella et al 2021 - in a large study of patients with no initial diagnostic variants identified by ES/GS, they identified two different heterozygous missense variants in RAB11A in two unrelated patients (NM_004663.4: c.375G>T, p. Lys125Asn and NM_004663.4: c.380A>G, p. Asp127Gly). Both are reported to have microcephaly (degree not stated) and brain anomalies (both with agenesis of corpus callosum, and one with additional abnormal cortical gyration, mylation abnormalites).; to: PMID: 29100083 - Hamdan et al 2017 - performed WGS on 197 individuals with unexplained Developmental and epileptic encephalopathy and pharmaco-resistant seizures and in their unaffected parents. 2 patients reported with heterozygous missense variants in RAB11A, one of which had seizures (c.244C>T [p.Arg82Cys] variant) in addition to developing severe ID. 2 other individuals with missense variants in RAB11A and some phenotypic data from the DDD project are described. For 3 of the 4 individuals there are brain MRI data which indicate brain abnormalities including partial agenesis of the corpus callosum, or thin corpus collosum. PMID: 33875846 - Bertoli-Avella et al 2021 - in a large study of patients with no initial diagnostic variants identified by ES/GS, they identified two different heterozygous missense variants in RAB11A in two unrelated patients (NM_004663.4: c.375G>T, p. Lys125Asn and NM_004663.4: c.380A>G, p. Asp127Gly). Both are reported to have microcephaly (degree not stated) and brain anomalies (both with agenesis of corpus callosum, and one with additional abnormal cortical gyration, myelination abnormalites).
11 Aug 2022	Fetal anomalies v1.900	DEPDC5	Rhiannon Mellis commented on gene: DEPDC5: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene. Currently rated Green on the following other PanelApp panel(s): Intellectual disability, Genetics epilepsies. Amber on cortical malformations panel. Details of review: Previously reviewed as Red because only associated with familial epilepsy without structural brain anomalies (AD - caused by het LOF variants) but data presented by Dr Lara Menzies at CGS Spring Meeting 2021 suggests that there may also be a biallelic phenotype with hypomorphic variants. 5 cases presented from 3 unrelated Irish traveller families with significant polymicrogyria and macrocephaly as well as seizures and severe dev delay. At least 2 of the cases had prenatal features: ventriculomegaly, macrocephaly and IUGR for one, polymicrogyria on MRI for another - fetal MRI done because of FHx of affected child. (Unpublished data) Liu et al 2020 (PMID: 32848577) report one case with homozygous missense variants in this gene, who had focal cortical dysplasia and seizures from 3yo
11 Aug 2022	Fetal anomalies v1.900	ENG	Rhiannon Mellis gene: ENG was added gene: ENG was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 Review for gene: ENG was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene. Details of review: Consistency check because out of 4 known HHT genes EPHB4 and SMAD4 are on the fetal anomalies panel but ACVRL1 and ENG are not. No specific published reports of ENG variants detected prenatally but correlates with pulmonary AVMs which can present neonatally and can be detected on prenatal US (PMID: 17719943; PMID: 21988128). Sources: Expert Review, Literature
11 Aug 2022	Fetal anomalies v1.900	ACVRL1	Rhiannon Mellis reviewed gene: ACVRL1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 27381467, 32170914; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Aug 2022	Fetal anomalies v1.900	MRPS16	Rhiannon Mellis gene: MRPS16 was added gene: MRPS16 was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: MRPS16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MRPS16 were set to PMID: 28749478 Phenotypes for gene: MRPS16 were set to Combined oxidative phosphorylation deficiency 2 Review for gene: MRPS16 was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene. Details of review: Amber on mitochondrial/inborn errors of metabolism etc. Not Green on any panel. One previous case reported with "agenesis of the corpus callosum, dysmorphism, and fatal neonatal lactic acidosis. The patient was small at birth, with dysmorphic facies, low-set ears, nonpitting edema of the limbs, brachydactyly, and redundant skin over the neck. She died of intractable metabolic acidosis at age 3 days." PMID:15505824 (2004). One further fetal case reported by Shamseldin et al. 2018 (PMID: 28749478) with hydrops, very short long bones, and partial ACC Sources: Expert Review, Literature
11 Aug 2022	Fetal anomalies v1.900	THSD1	Rhiannon Mellis gene: THSD1 was added gene: THSD1 was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: THSD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: THSD1 were set to PMID: 28749478; 26036949 Phenotypes for gene: THSD1 were set to Intracerebral aneurysms; ?Hydrops fetalis Review for gene: THSD1 was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene pending more evidence. Details of review: Not currently Green on any panels. Amber on Cerebral vascular malformations. (Heterozygous mutations identified in nine families with intracerebral aneurysms plus animal models but unclear on penetrance.) Shamseldin et al 2018 (PMID: 28749478) report a fetal case with hydrops and a HOMOZYGOUS likely pathogenic variant in THSD1. The same group previously identified this same founder mutation in THSD1 in another 3 families with hydrops/oedema (PMID: 26036949) Sources: Expert Review, Literature
11 Aug 2022	Fetal anomalies v1.900	MYBPC3	Rhiannon Mellis gene: MYBPC3 was added gene: MYBPC3 was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: MYBPC3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: MYBPC3 were set to PMID: 28749478; 19858127 Phenotypes for gene: MYBPC3 were set to Cardiomyopathy; ?Congenital myopathy Review for gene: MYBPC3 was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene pending more evidence. Currently rated Green on the following other PanelApp panel(s): Various cardiomyopathy panels. Amber on congenital myopathy panel. Details of review: Previously only one (AR) case with skeletal muscle phenotype, although is a known cardiomyopathy gene (PMID: 19858127). One fetal case reported by Shamseldin et al 2018 (PMID: 28749478) with hydrops. Sources: Expert Review, Literature
11 Aug 2022	Fetal anomalies v1.900	CACNA1S	Rhiannon Mellis gene: CACNA1S was added gene: CACNA1S was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: CACNA1S was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CACNA1S were set to PMID: 33060286; 28012042 Phenotypes for gene: CACNA1S were set to Congenital myopathy; arthrogryposis Review for gene: CACNA1S was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene. Details of review: Previously only monoallelic variants reported associated with malignant hyperthermia and periodic paralysis but more recently biallelic variants have been associated with congenital myopathy. In Ravenscroft et al 2020 (PMID: 33060286) the reported biallelic variants were VUS but strong suspicion of causality: the proband had polyhydramnios, scalp oedema, bilateral wrist contractures, bilateral talipes and reduced fetal movements, ToP at 26/40. Mild facial dysmorphic features were noted on autopsy, including low anterior hairline, mild hypertelorism and moderate retrognathia. A previous pregnancy was affected with polyhydramnios and reduced fetal movements, delivered at 32/40 due to placental abruption and died at 10 days. On photos the baby had ptosis and broad nasal tip. The biallelic variants segregated within the family (parents and the 2 unaffected sibs all het). No cell lines available for functional studies. Another study (PMID: 28012042) reports 7 families with congenital myopathy and CACNA1S mutations (both recessive and dominant), of whom 3 had cases with antenatal onset (reduced fetal movements). Sources: Expert Review, Literature
11 Aug 2022	Fetal anomalies v1.900	NDUFB10	Rhiannon Mellis gene: NDUFB10 was added gene: NDUFB10 was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: NDUFB10 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFB10 were set to PMID: 31130284; 28040730 Phenotypes for gene: NDUFB10 were set to Mitochondrial complex I deficiency Review for gene: NDUFB10 was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene. Details of review: Not Green on any other panels (Amber/Red because only 1 case reported, with functional studies). Causes Mitochondrial complex 1 deficiency. One fetal case reported by Monies et al 2019 (PMID: 31130284) with Non-immune hydrops fetalis and died after birth. The previous reported case on OMIM (from PMID: 28040730) was a female infant with IUGR, hydrops, lung hypoplasia and fetal cardiomyopathy - neonatal death with rapidly progressive lactic acidosis and PM found decreased complex 1 activity in skeletal muscle, heart, liver. Previous child of parents also had hydrops and died on day 1 of life. Sources: Expert Review, Literature
11 Aug 2022	Fetal anomalies v1.900	FTO	Rhiannon Mellis gene: FTO was added gene: FTO was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: FTO was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FTO were set to PMID: 31130284; 19559399; 26378117 Phenotypes for gene: FTO were set to Growth retardation, developmental delay, facial dysmorphism Review for gene: FTO was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene. Details of review: Not Green on any panels (only 2 families reported to date). On OMIM: Growth retardation, developmental delay, facial dysmorphism. One fetal case reported by Monies et al 2019 (PMID: 31130284) with Dandy-Walker malformation, IUGR, and polyhydramnios. This fits with the phenotype reported in one consanguineous family with 9 affected individuals reported by Boissel 2009 PMID: 19559399. The other reported case is PMID: 26378117 - a homozygous missense variant in FTO was identified in a 21-month old girl who presented with growth retardation, failure to thrive, severely delayed development, Dysmorphic facial features, decreased brain parenchyma, delayed myelination, and a thin corpus callosum. Sources: Expert Review, Literature
11 Aug 2022	Fetal anomalies v1.900	CACNA1D	Rhiannon Mellis reviewed gene: CACNA1D: Rating: ; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: PMID: 32410215; Phenotypes: PRIMARY ALDOSTERONISM, SEIZURES, AND NEUROLOGIC ABNORMALITIES; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
11 Aug 2022	Fetal anomalies v1.900	ASXL3	Rhiannon Mellis edited their review of gene: ASXL3: Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but still limited evidence, support keeping as Amber gene for now. Details of review: Previously reviewed as Amber as 2 fetal cases in literature: one from PMID: 32565546 with short CC and metopic synostosis, one from PMID: 29316359 with distal arthrogryposis and cerebellar vermian hypoplasia. Now there is one more fetal case reported with arthrogryposis - PMID: 33820833; Changed publications to: PMID: 33820833; Changed phenotypes to: Arthrogryposis
10 Aug 2022	Fetal anomalies v1.900	UNC13D	Rhiannon Mellis gene: UNC13D was added gene: UNC13D was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UNC13D were set to PMID: 33249554 Phenotypes for gene: UNC13D were set to Pancytopenia; ?Hydrops fetalis Review for gene: UNC13D was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene. Currently rated Green on the following other PanelApp panel(s): primary immunodeficiency Details of review: One fetal case reported in Diderich et al 2020 (PMID: 33249554) with hydrops, presumed secondary to fetal anaemia. Sources: Literature, Expert Review
10 Aug 2022	Fetal anomalies v1.900	C1QBP	Rhiannon Mellis reviewed gene: C1QBP: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32304219; Phenotypes: Combined oxidative phosphorylation deficiency 33, Cardiomyopathy, Myopathy, Metabolic acidosis, Ologohydramnios; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
10 Aug 2022	Fetal anomalies v1.900	SERPINA11	Rhiannon Mellis gene: SERPINA11 was added gene: SERPINA11 was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: SERPINA11 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERPINA11 were set to PMID: 31742715; 28749478 Phenotypes for gene: SERPINA11 were set to ?Hydrops fetalis Review for gene: SERPINA11 was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene to watch for further evidence. Not currently rated Green on any other PanelApp panel(s). Details of review: No OMIM disease association currently. Reported as a novel genotype-phenotype association in Aggarwal 2020 (PMID: 31742715) in a fetus with homozygous nonsense variant. Fetus presented with pericardial effusion and on post-mortem was found to have serous cavity effusions, and generalised blebs of gelatinous material on the visceral surfaces. Histopathology and stains showed derangement of ECM and collagen fibres. Consanguineous couple with one similarly affected previous pregnancy. This gene is also reported in Shamseldin et al 2018 (PMID: 28749478) as a candidate gene in a fetus with hydrops. Sources: Expert Review, Literature
10 Aug 2022	Fetal anomalies v1.900	LOX	Rhiannon Mellis gene: LOX was added gene: LOX was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: LOX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LOX were set to PMID: 31742715 Phenotypes for gene: LOX were set to Aortopathy Review for gene: LOX was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: May be fetally relevant but currently limited evidence, support adding to the Fetal anomalies panel as Amber gene. Currently rated Green on the following other PanelApp panel(s): familial thoracic aortic aneurysm Details of review: Reported as a novel genotype-phenotype association in Aggarwal et al 2020 (PMID: 31742715), in a fetus with homozygous missense variants. Heterozygous variants in this gene are known to cause thoracic aortic aneurysm. The fetus presented with unexplained IUD and on post-mortem had: Excessive skin folds, emphysematous bullae on lung surface, Facial dysmorphism, distal joint contractures, internal haemorrhages. Histopathology and special stains confirmed degradation of collagen and elastin in the aorta, pleura and skin. If we are going to add to panel suggest putting MOI as biallelic only (and accept that this would be an incidental finding for carrier parents that would lead to them needing monitoring for aortic aneurysm) Sources: Expert Review, Literature
09 Aug 2022	Fetal anomalies v1.899	TMEM70	Arina Puzriakova Phenotypes for gene: TMEM70 were changed from MITOCHONDRIAL COMPLEX V (ATP SYNTHASE) DEFICIENCY, NUCLEAR TYPE 2 to IUGR; Oligohydramnios; Anhydramnios; Cardiomyopathy
09 Aug 2022	Fetal anomalies v1.892	PLD1	Arina Puzriakova Phenotypes for gene: PLD1 were changed from Cardiac valvular defect, developmental, OMIM:212093 to Cardiac valvular defect, developmental, OMIM:212093; Cardiomyopathy; Congenital heart malformations
09 Aug 2022	Fetal anomalies v1.889	NEXN	Arina Puzriakova Phenotypes for gene: NEXN were changed from Cardiomyopathy to Cardiomyopathy, dilated, 1CC, OMIM:613122; Cardiomyopathy, hypertrophic, 20, OMIM:613876
09 Aug 2022	Fetal anomalies v1.884	NDUFB11	Arina Puzriakova Phenotypes for gene: NDUFB11 were changed from MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME to Linear skin defects with multiple congenital anomalies 3, OMIM:300952; Cardiomyopathy; Agenesis of corpus callosum (ACC)
09 Aug 2022	Fetal anomalies v1.882	MED13L	Arina Puzriakova Phenotypes for gene: MED13L were changed from INTELLECTUAL DISABILITY to Impaired intellectual development and distinctive facial features with or without cardiac defects, OMIM:616789
01 Aug 2022	Fetal anomalies v1.880	NDUFB11	Rhiannon Mellis reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25772934; Phenotypes: Linear skin defects, cardiomyopathy, ACC; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
01 Aug 2022	Fetal anomalies v1.880	TMEM70	Rhiannon Mellis reviewed gene: TMEM70: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 21147908, PMID: 24740313, PMID: 26550569, PMID: 20335238, PMID: 25326274; Phenotypes: IUGR, Oligohydramnios, Anhydramnios, Cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Aug 2022	Fetal anomalies v1.880	SPTA1	Rhiannon Mellis gene: SPTA1 was added gene: SPTA1 was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: SPTA1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: SPTA1 were set to PMID: 34132406; PMID: 31333484 Phenotypes for gene: SPTA1 were set to Hydrops fetalis; Congenital anaemia Review for gene: SPTA1 was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st July 2022 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rhiannon Mellis (North Thames GLH), and Stephanie Allen, Denise Williams, Esther Kinning and Anna de Burca (Central & South GLH). Outcome of review: Likely that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as an Amber gene, pending further evidence and review of other congenital anaemia genes that may cause hydrops. Currently rated Green on the following other PanelApp panel(s): Congenital anaemias Details of review: The fetal case in Wagner et al 2021 (PMID: 34132406) had hydrops secondary to severe fetal anaemia at 28/40. Chonat et al 2019 (PMID: 31333484) also report 3 further unrelated cases with hydrops/fetal anaemia. Sources: Literature, Expert Review
01 Aug 2022	Fetal anomalies v1.880	PLOD3	Rhiannon Mellis gene: PLOD3 was added gene: PLOD3 was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: PLOD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLOD3 were set to PMID: 18834968; PMID: 33743358 Phenotypes for gene: PLOD3 were set to Lysyl hydroxylase 3 deficiency; IUGR; Contractures Review for gene: PLOD3 was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st July 2022 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rhiannon Mellis (North Thames GLH), and Stephanie Allen, Denise Williams, Esther Kinning and Anna de Burca (Central & South GLH). Outcome of review: May be fetally relevant, support adding to the Fetal anomalies panel as an Amber gene, pending more evidence. Rated Green on the following other PanelApp panel(s): Cataracts Details of review: Phenotype on OMIM includes potentially fetally detectable phenotypes: IUGR, contractures, cataracts (?whether congenital). Salo et al 2008 (PMID: 18834968) describes a proband with IUGR, flat facial profile, simple, low-set ears, shallow orbits, short, upturned nose, and downturned corners of the mouth. Skeletal features included talipes equinovarus, progressive scoliosis, osteopenia, and several pathologic fractures. A sib had IUGR and was stillborn, with finger contractures (but didn't seem to have molecular testing?). The fetal case in Cao et al 2021 had NT 5.2 mm (12/40), Reduced fetal movement (12/40), FGR (24/40), Enlarged posterior fossa (24/40), Intracranial haemorrhage (24/40), Clenched hands and fixated extended knees (24/40). Sources: Literature, Expert Review
01 Aug 2022	Fetal anomalies v1.880	PLD1	Rhiannon Mellis reviewed gene: PLD1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33142350; Phenotypes: Cardiomyopathy, Congenital heart malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
01 Aug 2022	Fetal anomalies v1.880	NEXN	Rhiannon Mellis gene: NEXN was added gene: NEXN was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: NEXN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NEXN were set to PMID: 32058062; PMID: 33027564 Phenotypes for gene: NEXN were set to Cardiomyopathy Review for gene: NEXN was set to AMBER Added comment: This gene and phenotype were reviewed during a meeting on 21st July 2022 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rhiannon Mellis (North Thames GLH), and Stephanie Allen, Denise Williams, Esther Kinning and Anna de Burca (Central & South GLH). Outcome of review: Gene usually causes adult-onset AD cardiomyopathy. However, there may be a fetally relevant phenotype with biallelic variants. Support adding to the Fetal anomalies panel as an Amber gene, pending more evidence of fetal phenotype (only 2 reported unrelated cases to date). Currently rated Green on the following other PanelApp panel(s): Cardiomyopathy (dilated) Details of review: The fetal case in Sparks et al (PMID: 33027564) had pericardial effusion, ascites, cardiomegaly, dilation and hypertrophy of cardiac ventricles, hypoplastic and dysplastic aortic valve, diminished systolic function, fetal growth restriction, and was stillborn. 2 NEXN variants found in the fetus (1 mat inherited, 1 de novo) but unable to confirm phase. The fetal case in Rinaldi et al 2021 (PMID: 32058062) had Cardiomegaly, low contractility/outflow, fibroelastosis of right ventricle. The fetus was compound het for NEXN variants and parents were both unaffected het with normal echos. They'd had one previous pregnancy with same phenotype. Sources: Literature, Expert Review
01 Aug 2022	Fetal anomalies v1.880	MED13L	Rhiannon Mellis reviewed gene: MED13L: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33142350, PMID: 32058062; Phenotypes: Intellectual disability, dysmorphic features, congenital heart malformations, talipes; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Jul 2022	Fetal anomalies v1.879	LONP1	Arina Puzriakova commented on gene: LONP1: Added 'watchlist_moi' tag to monitor recently reported association with congenital diaphragmatic hernia as highlighted in review by Zornitza Stark (Australian Genomics)
27 Jul 2022	Fetal anomalies v1.877	ZFPM2	Arina Puzriakova Added comment: Comment on list classification: Rating Amber based on the evidence provided in review by Anna de Burca. Gene-disease association is classified with 'limited' confidence in G2P. Cases indicate reduced penetrance and no functional studies of variants relating to diaphragmatic hernia have been reported thus far. Gene is also associated with other phenotypes with limited support.
06 Jul 2022	Fetal anomalies v1.873	WNT7B	Julia Baptista gene: WNT7B was added gene: WNT7B was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: WNT7B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNT7B were set to 35790350 Phenotypes for gene: WNT7B were set to Pulmonary hypoplasia; Diaphragmatic anomalies; Anophthalmia/Microphthalmia; Cardiac defects Review for gene: WNT7B was set to GREEN Added comment: One homozygous nonsense variant identified in family 1. Compound heterozygous missense and nonsense variants identified in two affected fetuses in family 2. A third family with limited phenotypic information available, with parents heterozygous for the same nonsense variant, p. (Arg98Ter), identified in family 1, but no segregation studies in the affected. Animal studies in Danio rerio were supportive. Lung hypoplasia with tracheal, ocular, cardiac, and renal defects. Sources: Expert Review
05 Jul 2022	Fetal anomalies v1.873	MTM1	Arina Puzriakova Added comment: Comment on mode of inheritance: Rare manifesting females have been reported, including a heterozygous female with prenatal/neonatal onset (PMID: 12707446). MOI should therefore be updated form XLR to XLD at the next GMS review.
05 Jul 2022	Fetal anomalies v1.872	MTM1	Arina Puzriakova Phenotypes for gene: MTM1 were changed from MYOTUBULAR MYOPATHY, X-LINKED to Myopathy, centronuclear, X-linked, OMIM:310400
29 Jun 2022	Fetal anomalies v1.871	ARHGAP29	Eleanor Williams Publications for gene: ARHGAP29 were set to
07 Jun 2022	Fetal anomalies v1.868	CYP11B1	Arina Puzriakova Added comment: Comment on mode of inheritance: Only biallelic MOI is relevant to this panel, causing Adrenal hyperplasia, congenital, due to 11-beta-hydroxylase deficiency, OMIM:202010, characterised by androgen excess, virilization, and hypertension (can be detected prenatally by increased levels of tetrahydro-11-deoxycortisol in the amniotic fluid). On the other hand, AD disease arises in the form of familial hyperaldosteronism/hypertension in childhood to early adulthood and therefore should be excluded from the fetal panel.
07 Jun 2022	Fetal anomalies v1.865	CYP11A1	Arina Puzriakova Added comment: Comment on mode of inheritance: Homozygous, compound heterozygous, and heterozygous (although most rare) variants in the CYP11A1 gene have all been associated with disease. Therefore, MOI should be updated to 'Both mono- and biallelic' at the next GMS panel update.
01 Jun 2022	Fetal anomalies v1.864	ZFPM2	Anna de Burca gene: ZFPM2 was added gene: ZFPM2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ZFPM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ZFPM2 were set to 24702427 Phenotypes for gene: ZFPM2 were set to Congenital diaphragmatic hernia Penetrance for gene: ZFPM2 were set to Incomplete Review for gene: ZFPM2 was set to AMBER Added comment: Paper suggests that ZFPM2 variants may be associated with isolated congenital diaphragmatic hernia, but penetrance appears reduced. Given the apparently reduced penetrance and since isolated CDH is a relatively common congenital finding, the gene-disease association remains uncertain. Of note, variants in this gene have also been associated with 46,XY sex reversal and Tetralogy of Fallot. Sources: Literature
25 May 2022	Fetal anomalies v1.862	PLCB4	Eleanor Williams Added comment: Comment on list classification: Leaving the rating of this gene as amber just now, but there are sufficient cases to promote to green following GMS review.
25 May 2022	Fetal anomalies v1.860	PLCB4	Eleanor Williams reviewed gene: PLCB4: Rating: ; Mode of pathogenicity: None; Publications: 22560091, 23315542, 28328130, 23913798; Phenotypes: Auriculocondylar syndrome 2, OMIM:614669, auriculocondylar syndrome 2, MONDO:0013845; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
08 May 2022	Fetal anomalies v1.860	SMARCC1	Eleanor Williams Tag gene-checked tag was added to gene: SMARCC1.
04 May 2022	Fetal anomalies v1.860	ARHGAP29	Catherine Snow Tag gene-checked tag was added to gene: ARHGAP29.
20 Apr 2022	Fetal anomalies v1.859	FH	Arina Puzriakova Phenotypes for gene: FH were changed from FUMARASE DEFICIENCY to Fumarase deficiency, OMIM:606812
14 Apr 2022	Fetal anomalies v1.858	COL1A2	Eleanor Williams changed review comment from: The mode of inheritance for the following phenotypes is monoallelic. - Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 (OMIM:619120) - Ehlers-Danlos syndrome, arthrochalasia type, 2 (OMIM:617821) - Osteogenesis imperfecta, type II (OMIM:166210) - Osteogenesis imperfecta, type III (OMIM:259420) - Osteogenesis imperfecta, type IV (OMIM:166220) Only Ehlers-Danlos syndrome, cardiac valvular type (OMIM: 225320) has a biallelic mode of inheritance.; to: Variants in this gene are associated with the following phenotypes in OMIM with a monoallelic mode of inheritance: - Combined osteogenesis imperfecta and Ehlers-Danlos syndrome 2 (OMIM:619120) - Ehlers-Danlos syndrome, arthrochalasia type, 2 (OMIM:617821) - Osteogenesis imperfecta, type II (OMIM:166210) - Osteogenesis imperfecta, type III (OMIM:259420) - Osteogenesis imperfecta, type IV (OMIM:166220) Only Ehlers-Danlos syndrome, cardiac valvular type (OMIM: 225320) has a biallelic mode of inheritance.
13 Apr 2022	Fetal anomalies v1.856	LIFR	Eleanor Williams Phenotypes for gene: LIFR were changed from Stuve-Wiedemann syndrome; Schwartz-Jampel type 2 syndrome to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, OMIM:601559
13 Apr 2022	Fetal anomalies v1.854	LIFR	Eleanor Williams changed review comment from: Heterozygous variants in LIFR are associated with a CAKUT phenotype, while homozygous variants are associated with skeletal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndromes. At the moment the mode of inheritance for this gene on the Fetal anomalies panel is biallelic only. GMS fetal group input is needed to decide whether the mode of inheritance for this gene should also include monoallelic cases as the renal phenotype might be detected antenatally e.g. hydronephrosis.; to: Heterozygous variants in LIFR are associated with a CAKUT phenotype, while homozygous variants are associated with skeletal Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndromes. At the moment the mode of inheritance for this gene on the Fetal anomalies panel is biallelic only. GMS fetal group input is needed to decide whether the mode of inheritance for this gene should also include monoallelic cases as the renal phenotype might be detected antenatally e.g. hydronephrosis. The paper describing the CAKUT cases is PMID: 28334964 (Kosfeld et al 2017).
01 Apr 2022	Fetal anomalies v1.847	PEX6	Sarah Leigh edited their review of gene: PEX6: Added comment: For Peroxisome biogenesis disorder 4B (OMIM:614863), Falkenberg et al (PMID: 29220678) has identified Allelic Expression Imbalance (AEI) as a mechanism responsible for the condition. Affected patients (7 unrelated cases) were monoallelic for rs61753230 (c.2578C>T, p.Arg860Trp) and rs144286892 (c.∗442_445 delTAAA), with these variants being on the same chromosome (cis). It would appear that rs144286892 causes the over expression of the allele that it is on, resulting in over expression of rs61753230. The unaffected parents analysed were monoallelic for rs61753230 and biallelic for rs144286892, resulting in overexpression of both rs61753230 and wild type alleles (PMID: 29220678). Experimental evidence revealed that rs61753230 has a dominant-negative effect on the function of the PEX1- PEX6 complex in peroxisomal matrix protein import (PMID: 29220678).; Changed mode of pathogenicity: Other; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
01 Apr 2022	Fetal anomalies v1.845	PEX6	Sarah Leigh Added comment: Comment on mode of inheritance: The Q1_22_MOI tag has been added to this gene. The mode of inheritance for PEX6 should be set to: BOTH monoallelic and biallelic, autosomal or pseudoautosomal, in order to detect the dominant Peroxisome biogenesis disorder 4B (OMIM:614863). Incomplete penetrance has been noted, in order to highlight that unaffected parents may also carry rs61753230.
03 Mar 2022	Fetal anomalies v1.836	SPARC	Arina Puzriakova Tag for-review was removed from gene: SPARC.
03 Mar 2022	Fetal anomalies v1.836	SMARCE1	Arina Puzriakova Tag Q4_21_rating was removed from gene: SMARCE1.
03 Mar 2022	Fetal anomalies v1.836	SMARCC1	Arina Puzriakova Tag Q2_21_rating was removed from gene: SMARCC1.
03 Mar 2022	Fetal anomalies v1.836	ARHGAP29	Arina Puzriakova Tag for-review was removed from gene: ARHGAP29.
03 Mar 2022	Fetal anomalies v1.836	ARFGEF2	Arina Puzriakova Tag for-review was removed from gene: ARFGEF2.
03 Mar 2022	Fetal anomalies v1.836	SPARC	Arina Puzriakova commented on gene: SPARC: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
03 Mar 2022	Fetal anomalies v1.836	SMARCE1	Arina Puzriakova commented on gene: SMARCE1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
03 Mar 2022	Fetal anomalies v1.836	SMARCC1	Arina Puzriakova commented on gene: SMARCC1: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
03 Mar 2022	Fetal anomalies v1.836	ARHGAP29	Arina Puzriakova commented on gene: ARHGAP29: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
03 Mar 2022	Fetal anomalies v1.836	ARFGEF2	Arina Puzriakova commented on gene: ARFGEF2: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
03 Mar 2022	Fetal anomalies v1.835	SPARC	Arina Puzriakova Source Expert Review Green was added to SPARC. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
03 Mar 2022	Fetal anomalies v1.835	SMARCE1	Arina Puzriakova Source Expert Review Green was added to SMARCE1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
03 Mar 2022	Fetal anomalies v1.835	SMARCC1	Arina Puzriakova Source Expert Review Green was added to SMARCC1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
03 Mar 2022	Fetal anomalies v1.835	ARHGAP29	Arina Puzriakova Source Expert Review Green was added to ARHGAP29. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
03 Mar 2022	Fetal anomalies v1.835	ARFGEF2	Arina Puzriakova Source Expert Review Green was added to ARFGEF2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
02 Mar 2022	Fetal anomalies v1.834	LTBP3	Eleanor Williams Added comment: Comment on mode of inheritance: Recommending that the mode of inheritance should be updated to Both mono- and bi-allelic as relevant phenotypes associated with this gene are associated with both mono (geleophysic dysplasia) and biallelic (dental anomalies and short stature) variants.
01 Mar 2022	Fetal anomalies v1.833	POU1F1	Arina Puzriakova Phenotypes for gene: POU1F1 were changed from POU1F1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY to Pituitary hormone deficiency, combined or isolated, 1, OMIM:613038
01 Mar 2022	Fetal anomalies v1.830	HSF4	Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Monoallelic' only to 'Both mono- and biallelic'. The expanded MOI is based on autosomal recessive cataract cases in PMID:19014451; 24045990; 26490182.
01 Mar 2022	Fetal anomalies v1.829	HSF4	Arina Puzriakova Phenotypes for gene: HSF4 were changed from CATARACT ZONULAR HSF4-RELATED; CATARACT MARNER TYPE to Cataract 5, multiple types, OMIM:116800
10 Feb 2022	Fetal anomalies v1.827	RAC3	Rhiannon Mellis gene: RAC3 was added gene: RAC3 was added to Fetal anomalies. Sources: Literature,Expert Review,NHS GMS Mode of inheritance for gene: RAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: RAC3 were set to 30293988; 29276006 Phenotypes for gene: RAC3 were set to Abnormality of brain morphology; Abnormal muscle tone; Neurodevelopmental delay; Intellectual disability Mode of pathogenicity for gene: RAC3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: RAC3 was set to GREEN Added comment: This gene already has sufficient evidence for Green rating on the ID panel (see below) and now adding evidence (from NHS GMS testing) for prenatal phenotype to support Green rating for the Fetal Anomalies panel also: A RAC3 likely pathogenic missense variant has been identified postnatally in a baby that presented prenatally with absent corpus callosum, bilateral ventriculomegaly, cerebellar and brainstem hypoplasia detected on fetal ultrasound and MRI. The variant is judged by the child's clinical team to be causative of the clinical and radiological features in the child. Copied from Green review on Intellectual Disability panel by Konstantinos Varvagiannis: PMID: 30293988 reports on 5 individuals (from 4 different families) with de novo missense variants in RAC3. All individuals demonstrated structural anomalies on brain MRI (notably agenesis/dysgenesis of the corpus callosum, variable degrees of polymicrogyria and ventricular anomalies) as well as shared non-specific neurological features including abnormal muscular tone, global developmental delay and severe to profound intellectual disability. Feeding difficulties were observed in 4/5 patients. All variants reported are missense and are presumed to result in constitutive protein activation, as suggested by previous observations either in RAC3 [eg. the p.(Gln61Leu) mutation] or the highly homologous RAC1 and RAC2. According to the authors this is further supported by the fact that Rac3 -/- mice do not show a severe phenotype while missense variants are underrepresented in the ExAC database (z=1.97) as opposed to loss-of-function variants (pLI=0.04 / probability of loss-of-function intolerance). Of the 3 SNVs reported, 2 variants were in adjacent amino-acid positions [p.(Gln61Leu) and p.(Glu62Lys)]. The latter variant was found in 2 half-sibs born to different fathers, due to suspected maternal gonadal mosaicism (variant absent in all sequencing reads in the maternal DNA sample). The specific variant was also found in a further affected individual from an unrelated family. Finally, as the authors point out a further individual with de novo RAC3 missense variant [p.(Ala59Gly)] was reported previously in an individual with thin corpus callosum and global developmental delay, although the phenotype was felt to be more reminiscent of Robinow syndrome (PMID: 29276006). Sources: Literature, Expert Review, NHS GMS
28 Jan 2022	Fetal anomalies v1.826	CDX2	Dmitrijs Rots gene: CDX2 was added gene: CDX2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CDX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDX2 were set to PMID: 34671974 Phenotypes for gene: CDX2 were set to Multiple congenital anomalies Penetrance for gene: CDX2 were set to unknown Review for gene: CDX2 was set to GREEN Added comment: Multiple patients reported and summarized in PMID: 34671974 with multiple congenital anomalies, including patients with VACTERL-like phenotype. Sources: Literature
06 Jan 2022	Fetal anomalies v1.823	MYO5B	Arina Puzriakova Phenotypes for gene: MYO5B were changed from MICROVILLUS INCLUSION DISEASE to Diarrhea 2, with microvillus atrophy, OMIM:251850
04 Jan 2022	Fetal anomalies v1.822	TLL1	Ivone Leong Entity copied from Familial non syndromic congenital heart disease v1.70
08 Dec 2021	Fetal anomalies v1.820	PIEZO1	Arina Puzriakova Phenotypes for gene: PIEZO1 were changed from hydrops fetalis gene 616843; Congenital lymphatic dysplasia with hydrops and/or lymphoedema to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema, OMIM:194380; Lymphatic malformation 6, OMIM:616843; Congenital lymphatic dysplasia with hydrops and/or lymphoedema
04 Dec 2021	Fetal anomalies v1.819	TAB2	Zornitza Stark reviewed gene: TAB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34456334; Phenotypes: Mitral valve disease, cardiomyopathy, short stature and hypermobility, Rasopathy-like; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Nov 2021	Fetal anomalies v1.817	RNASEH2B	Arina Puzriakova Phenotypes for gene: RNASEH2B were changed from AICARDI-GOUTIERES SYNDROME 2 to Aicardi-Goutieres syndrome 2, OMIM:610181
24 Nov 2021	Fetal anomalies v1.816	IFIH1	Arina Puzriakova Phenotypes for gene: IFIH1 were changed from AICARDI-GOUTIERES SYNDROME 7; SINGLETON-MERTEN SYNDROME; Aicardi-Goutieres syndrome 7, 615846; Singleton-Merten syndrome 1, 182250 to Aicardi-Goutieres syndrome 7, OMIM:615846; Singleton-Merten syndrome 1, OMIM:182250
23 Nov 2021	Fetal anomalies v1.815	EXOSC3	Arina Puzriakova Phenotypes for gene: EXOSC3 were changed from PONTOCEREBELLAR HYPOPLASIA TYPE 1 to Pontocerebellar hypoplasia, type 1B, OMIM:614678
18 Nov 2021	Fetal anomalies v1.813	KIDINS220	Arina Puzriakova Phenotypes for gene: KIDINS220 were changed from Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM:617296; spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0015007; cerebral ventriculomegaly; limb contractures to Ventriculomegaly and arthrogryposis, OMIM:619501
15 Nov 2021	Fetal anomalies v1.811	CLPB	Arina Puzriakova Added comment: Comment on mode of inheritance: Association between biallelic variants and disease is well established, with more than 35 affected individuals reported. Recently, Wortmann et al. 2021 (PMID: 34140661) published six unrelated individuals with one of four different de novo monoallelic missense variants in CLPB. The phenotype strongly overlapped with that observed in the recessive disease. No prenatal findings were specifically mentioned but given the otherwise comparable clinical presentations, monoallelic inheritance may also be of relevance to this panel. Therefore, will flag this for further GMS review.
15 Nov 2021	Fetal anomalies v1.810	CLPB	Arina Puzriakova Phenotypes for gene: CLPB were changed from 3-METHYLGLUTACONIC ACIDURIA, TYPE VII, WITH CATARACTS, NEUROLOGIC INVOLVEMENT AND NEUTROPENIA to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, OMIM:616271
12 Nov 2021	Fetal anomalies v1.809	AR	Arina Puzriakova Phenotypes for gene: AR were changed from ANDROGEN INSENSITIVITY SYNDROME; SPINAL AND BULBAR MUSCULAR ATROPHY to ANDROGEN INSENSITIVITY SYNDROME
10 Nov 2021	Fetal anomalies v1.808	FMR1	Arina Puzriakova Phenotypes for gene: FMR1 were changed from FRAGILE X SYNDROME; FRAGILE X TREMOR/ATAXIA SYNDROME; PREMATURE OVARIAN FAILURE SYNDROME TYPE 1 to Fragile X syndrome, OMIM:300624; Fragile X tremor/ataxia syndrome, OMIM:300623
09 Nov 2021	Fetal anomalies v1.806	DMPK	Arina Puzriakova Mode of pathogenicity for gene: DMPK was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
09 Nov 2021	Fetal anomalies v1.802	CNBP_CCTG	Arina Puzriakova STR: CNBP_CCTG was added STR: CNBP_CCTG was added to Fetal anomalies. Sources: Expert Review STR, NGS Not Validated tags were added to STR: CNBP_CCTG. Mode of inheritance for STR: CNBP_CCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for STR: CNBP_CCTG were set to Myotonic dystrophy 2, OMIM:602668 Added comment: The mutation is a CCTG repeat expansion in intron 1 of the CNBP (ZNF9) gene. The range of expanded allele sizes is 75 to 11,000 CCTG repeats, whereas normal is up to 30. The CCTG repeat tract in normal alleles typically contains one or more tetranucleotide interruptions. The sequence interruptions that are routinely found within the CCTG tracts of normal alleles are not found in sequenced pathogenic CCTG expansions of CNBP alleles. On transmission to the next generation, CNBP repeat length sometimes diminishes dramatically, without significant differences determined by the gender of the transmitting parent. ----- Copied from Rhiannon Mellis (GOSH) review of gene CNBP on Fetal anomalies panel: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Expert Review
09 Nov 2021	Fetal anomalies v1.801	CNBP	Arina Puzriakova changed review comment from: Comment on list classification: Demoted to Red, this review is for the STR entity and not the gene entity.; to: Comment on list classification: Demoted to Red, this review is for the STR entity and not the gene entity. STR added separately.
09 Nov 2021	Fetal anomalies v1.800	CNBP	Arina Puzriakova Mode of pathogenicity for gene: CNBP was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
08 Nov 2021	Fetal anomalies v1.796	MMP15	Ivone Leong Added comment: Comment on list classification: New gene added by Dmitrijs Rots (RadboudUMC). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. PMID: 33875846 describes 3 patients from 2 families with biallelic variants in MMP15 (one is Pro353fs and other is Gly231Arg). One family with 2 affected siblings presented with cholestasis, hepatomegaly, high hepatic transaminases, and congenital heart disease. The other unrelated case showed similar symptoms. As there are only 2 cases and currently there are no animal models that replicate the human phenotype this gene has been given an Amber rating until more evidence is available.
08 Nov 2021	Fetal anomalies v1.795	MMP15	Ivone Leong Phenotypes for gene: MMP15 were changed from Cholestasis; congenital heart disease to Cholestasis, MONDO:0001751; congenital heart disease, MONDO:0005453
03 Nov 2021	Fetal anomalies v1.792	SMARCE1	Arina Puzriakova Classified gene: SMARCE1 as Amber List (moderate evidence)
03 Nov 2021	Fetal anomalies v1.792	SMARCE1	Arina Puzriakova Gene: smarce1 has been classified as Amber List (Moderate Evidence).
03 Nov 2021	Fetal anomalies v1.791	SMARCE1	Arina Puzriakova Tag Q4_21_rating tag was added to gene: SMARCE1.
03 Nov 2021	Fetal anomalies v1.791	SMARCE1	Arina Puzriakova Publications for gene: SMARCE1 were set to
03 Nov 2021	Fetal anomalies v1.790	SMARCE1	Arina Puzriakova Phenotypes for gene: SMARCE1 were changed from COFFIN SIRIS to Coffin-Siris syndrome 5, OMIM:616938
03 Nov 2021	Fetal anomalies v1.787	SLC6A9	Arina Puzriakova Phenotypes for gene: SLC6A9 were changed from Glycine Encephalopathy with Arthrogryposis to Glycine encephalopathy with normal serum glycine, OMIM:617301; Arthrogryposis, MONDO:0008779
03 Nov 2021	Fetal anomalies v1.785	PRRX1	Arina Puzriakova Added comment: Comment on mode of inheritance: Setting MOI to 'Monoallelic' for now as 3 unrelated cases of otocephaly with private heterozygous LoF variants have been reported in literature to date, but only one patient with a homozygous alteration. May be reviewed if evidence of further cases emerges.
03 Nov 2021	Fetal anomalies v1.781	PRIM1	Arina Puzriakova Phenotypes for gene: PRIM1 were changed from Primordial dwarfism to Microcephalic primordial dwarfism, MONDO:0017950
03 Nov 2021	Fetal anomalies v1.777	LMNB2	Arina Puzriakova Phenotypes for gene: LMNB2 were changed from Microcephaly 27, primary, autosomal dominant to Microcephaly 27, primary, autosomal dominant, OMIM:619180
03 Nov 2021	Fetal anomalies v1.773	LMNB1	Arina Puzriakova Phenotypes for gene: LMNB1 were changed from Microcephaly 26, primary, autosomal dominant to Microcephaly 26, primary, autosomal dominant, OMIM:619179
03 Nov 2021	Fetal anomalies v1.768	FLNC	Arina Puzriakova Phenotypes for gene: FLNC were changed from Arthrogryposis to Arthrogryposis, MONDO:0008779
02 Nov 2021	Fetal anomalies v1.763	ENPP1	Arina Puzriakova Phenotypes for gene: ENPP1 were changed from HYPOPHOSPHATEMIC RICKETS, AUTOSOMAL RECESSIVE, 2; ARTERIAL CALCIFICATION, GENERALIZED, OF INFANCY, 1 to Arterial calcification, generalized, of infancy, 1, OMIM:208000
02 Nov 2021	Fetal anomalies v1.754	CRADD	Arina Puzriakova Phenotypes for gene: CRADD were changed from Megalencephaly with Variant Lissencephaly to Mental retardation, autosomal recessive 34, with variant lissencephaly, OMIM:614499
30 Oct 2021	Fetal anomalies v1.749	MMP15	Dmitrijs Rots gene: MMP15 was added gene: MMP15 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MMP15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MMP15 were set to PMID: 33875846 Phenotypes for gene: MMP15 were set to Cholestasis; congenital heart disease Review for gene: MMP15 was set to AMBER Added comment: Three cases from two families with biallelic variants and very similar phenotype including rare combination of symtoms (allagile-like) cholestasis with hepatomegaly and congenital heart disease. Phenotype could be important for fetal panel. Sources: Literature
29 Oct 2021	Fetal anomalies v1.749	POLR1B	Rhiannon Mellis gene: POLR1B was added gene: POLR1B was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: POLR1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: POLR1B were set to PMID: 31649276 Phenotypes for gene: POLR1B were set to Treacher-Collins syndrome 4 Review for gene: POLR1B was set to GREEN Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Already flagged for upgrade to Green on the following other PanelApp panel(s): Clefting, Skeletal dysplasias Details of review: PMID: 31649276 - Sanchez et al 2020 - using exome sequencing identified 6 patients (5 unrelated families) with Treacher Collins syndrome with heterozygous missense variants in POLR1B. Sources: Expert Review, Literature
29 Oct 2021	Fetal anomalies v1.749	CSF1R	Rhiannon Mellis gene: CSF1R was added gene: CSF1R was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: CSF1R was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CSF1R were set to PMID: 30982608 Phenotypes for gene: CSF1R were set to Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS) Review for gene: CSF1R was set to GREEN Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Details of review: Homozygous variants cause Brain abnormalities, neurodegeneration, and dysosteosclerosis (BANDDOS). Skeletal phenotype is osteopetrosis, dysosteosclerosis, platyspondyly, widened metaphyses. Brain anomalies include ACC and Dandy walker. At least one reported case of prenatal presentation with multiple brain anomalies - PubMed: 30982608 NB Bilallelic LOF variants cause this condition with fetally relevant phenotype but Monoallelic variants with dominant-negative effect cause an adult-onset neurodegenerative disease. Only for fetal reporting in BIALLELIC form Sources: Expert Review
29 Oct 2021	Fetal anomalies v1.749	LMNB2	Rhiannon Mellis gene: LMNB2 was added gene: LMNB2 was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: LMNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LMNB2 were set to PMID: 33033404 Phenotypes for gene: LMNB2 were set to Microcephaly 27, primary, autosomal dominant Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Already rated Green on the following other PanelApp panel(s): Severe microcephaly (pending) Details of review: Parry et al 2020 (PMID: 33033404) report on a cohort from DDD and 100k genomes studies: 13 individuals with heterozygous variant in LMNB1 (N=7) and LMNB2 (N=6) - phenotype of severe congenital microcephaly and ID (otherwise non-syndromic). Sources: Expert Review, Literature
29 Oct 2021	Fetal anomalies v1.749	LMNB1	Rhiannon Mellis gene: LMNB1 was added gene: LMNB1 was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: LMNB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: LMNB1 were set to PMID: 33033404 Phenotypes for gene: LMNB1 were set to Microcephaly 26, primary, autosomal dominant Review for gene: LMNB1 was set to GREEN Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Already rated Green on the following other PanelApp panel(s): Severe microcephaly (pending) Details of review: Parry et al 2020 (PMID: 33033404) report on a cohort from DDD and 100k genomes studies: 13 individuals with heterozygous variant in LMNB1 (N=7) and LMNB2 (N=6) - phenotype of severe congenital microcephaly and ID (otherwise non-syndromic). Sources: Literature, Expert Review
29 Oct 2021	Fetal anomalies v1.749	PRIM1	Rhiannon Mellis gene: PRIM1 was added gene: PRIM1 was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: PRIM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PRIM1 were set to PMID: 33060134 Phenotypes for gene: PRIM1 were set to Primordial dwarfism Review for gene: PRIM1 was set to GREEN Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Details of review: Parry et al 2020 (PMID: 33060134) report this as a novel disease gene - biallelic LOF mutations in 5 patients (from 4 families) with primordial dwarfism phenotype, including prenatal features of IUGR and extreme microcephaly with simplified gyri. Sources: Literature, Expert Review
29 Oct 2021	Fetal anomalies v1.749	MN1	Rhiannon Mellis commented on gene: MN1: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Agreed that the phenotype is fetally relevant (structural brain abnormalities e.g. polymicrogyria, cerebellar hypoplasia, craniofacial features etc.) support adding to the Fetal anomalies panel as a Green gene.
29 Oct 2021	Fetal anomalies v1.749	EXTL3	Rhiannon Mellis gene: EXTL3 was added gene: EXTL3 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: EXTL3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EXTL3 were set to Immunoskeletal dysplasia with neurodevelopmental abnormalities Review for gene: EXTL3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Skeletal dysplasia Sources: Expert Review
29 Oct 2021	Fetal anomalies v1.749	GREB1L	Rhiannon Mellis commented on gene: GREB1L: This gene and phenotype were re-reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene as per previous reviews (unclear on reason for change from Green to Amber previously)
29 Oct 2021	Fetal anomalies v1.749	FLNC	Rhiannon Mellis changed review comment from: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Already rated Green on the following other PanelApp panel(s): Distal myopathies Details of review: In this paper by Ravenscroft et al 2020, the proband presented at birth with hip dislocation, clenched hands, adducted thumbs, small mouth and high palate and posteriorly rotated ears. On examination, she had mild arthrogryposis, reduced shoulder movement, elbow dimples and scoliosis. Kiselev et al (PMID: 29858533) also described a series of four cases with early onset restrictive cardiomyopathy (RCM) and congenital myopathy. Two of these also presented with arthrogryposis at birth. Sources: Literature, Expert Review; to: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Already rated Green on the following other PanelApp panel(s): Distal myopathies; Neuromuscular disorders; flagged for upgrade to Green on Arthrogryposis panel Details of review: In this paper by Ravenscroft et al 2020, the proband presented at birth with hip dislocation, clenched hands, adducted thumbs, small mouth and high palate and posteriorly rotated ears. On examination, she had mild arthrogryposis, reduced shoulder movement, elbow dimples and scoliosis. Kiselev et al (PMID: 29858533) also described a series of four cases with early onset restrictive cardiomyopathy (RCM) and congenital myopathy. Two of these also presented with arthrogryposis at birth. Sources: Literature, Expert Review
29 Oct 2021	Fetal anomalies v1.749	FLNC	Rhiannon Mellis gene: FLNC was added gene: FLNC was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: FLNC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FLNC were set to PMID: 33060286; 29858533 Phenotypes for gene: FLNC were set to Arthrogryposis Review for gene: FLNC was set to GREEN Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Already rated Green on the following other PanelApp panel(s): Distal myopathies Details of review: In this paper by Ravenscroft et al 2020, the proband presented at birth with hip dislocation, clenched hands, adducted thumbs, small mouth and high palate and posteriorly rotated ears. On examination, she had mild arthrogryposis, reduced shoulder movement, elbow dimples and scoliosis. Kiselev et al (PMID: 29858533) also described a series of four cases with early onset restrictive cardiomyopathy (RCM) and congenital myopathy. Two of these also presented with arthrogryposis at birth. Sources: Literature, Expert Review
29 Oct 2021	Fetal anomalies v1.749	SMARCE1	Rhiannon Mellis reviewed gene: SMARCE1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32732226, 32436246, 32410215; Phenotypes: Coffin Siris syndrome 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Oct 2021	Fetal anomalies v1.749	SMARCC1	Rhiannon Mellis reviewed gene: SMARCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32732226; Phenotypes: Congenital hydrocephalus, Aqueduct stenosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
29 Oct 2021	Fetal anomalies v1.749	SLC6A9	Rhiannon Mellis reviewed gene: SLC6A9: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31875334, 27773429, 32712301, 33269555; Phenotypes: Glycine encephalopathy with Arthrogryposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Oct 2021	Fetal anomalies v1.749	CRADD	Rhiannon Mellis reviewed gene: CRADD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29947050, 27773430; Phenotypes: Mental retardation, autosomal recessive 34, with variant lissencephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Oct 2021	Fetal anomalies v1.749	CDK8	Rhiannon Mellis gene: CDK8 was added gene: CDK8 was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: CDK8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDK8 were set to PMID: 31742715; 30905399 Phenotypes for gene: CDK8 were set to Syndromic developmental disorder with hypotonia and behavioural abnormalities Review for gene: CDK8 was set to GREEN Added comment: This gene and phenotype were reviewed during a meeting on 21st October 2021 between representatives of the North Thames and Central & South R21 testing GLHs. Clinical review and curation was performed by Lyn Chitty, Alison Male, Rowenna Roberts, Rhiannon Mellis (North Thames GLH) and Stephanie Allen, Denise Williams and Esther Kinning (Central & South GLH). Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene. Already rated Green on the following other PanelApp panel(s): Intellectual disability; Severe paediatric disorders Details of review: Aggarwal et al 2020 report a heterozygous nonsense variant in a fetus with ventriculomegaly and Ebstein anomaly resulting in IUFD. Post-mortem found additionally congenital diaphragmatic hernia, common atrium and facial dysmorphism. This nonsense variant is at the same position as a hotspot for missense variants reported in a paediatric cohort (Calpena et al 2019, PMID: 30905399) with overlapping but milder phenotype: half of the 12 children in that cohort had cardiac defects, most had dysmorphic features - hence Aggarwal et al propose that this is a more severe (prenatal) presentation of the same multiple malformation syndrome, caused here by a nonsense rather than missense mutation. Sources: Literature, Expert Review
29 Oct 2021	Fetal anomalies v1.749	ENPP1	Rhiannon Mellis reviewed gene: ENPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31742715, 19521093, 19813208; Phenotypes: Generalised arterial calcification of infancy (GACI); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
27 Oct 2021	Fetal anomalies v1.749	CYP19A1	Arina Puzriakova Phenotypes for gene: CYP19A1 were changed from Aromatase deficiency 613546; Aromatase excess syndrome 139300 to Aromatase deficiency, OMIM:613546; Aromatase excess syndrome, OMIM:139300
27 Oct 2021	Fetal anomalies v1.746	CYP11A1	Arina Puzriakova Phenotypes for gene: CYP11A1 were changed from Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete 613743 to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM:613743
27 Oct 2021	Fetal anomalies v1.745	CRYBB3	Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Biallelic' to 'Both mono- and biallelic' at the next GMS panel update. CRYBB3 is associated with congenital cataract (MIM# 609741) which can have monoallelic or biallelic inheritance. Both MOIs for this phenotype are listed in OMIM and G2P.
27 Oct 2021	Fetal anomalies v1.744	CRYBB3	Arina Puzriakova Phenotypes for gene: CRYBB3 were changed from CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 2 to Cataract 22, OMIM:609741
26 Oct 2021	Fetal anomalies v1.742	COL6A3	Arina Puzriakova Phenotypes for gene: COL6A3 were changed from ULLRICH CONGENITAL MUSCULAR DYSTROPHY 1; DYSTONIA 27 to Bethlem myopathy, OMIM:158810; Ullrich congenital muscular dystrophy, OMIM:254090
26 Oct 2021	Fetal anomalies v1.741	COL6A3	Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Biallelic' to 'Both mono- and biallelic' at the next GMS panel update. COL6A3 is associated with two relevant disorders, both of which show biallelic and monoallelic inheritance (Bethlem myopathy 1, OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090).
26 Oct 2021	Fetal anomalies v1.740	COL6A1	Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Monoallelic' to 'Both mono- and biallelic' at the next GMS panel update. COL6A1 is associated with two relevant disorders, both of which show biallelic and monoallelic inheritance (Bethlem myopathy 1, OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090).
26 Oct 2021	Fetal anomalies v1.739	COL6A1	Arina Puzriakova Phenotypes for gene: COL6A1 were changed from COL6A1 associated myopathy to Bethlem myopathy 1, OMIM:158810; Ullrich congenital muscular dystrophy 1, OMIM:254090
25 Oct 2021	Fetal anomalies v1.736	LRIT3	Zornitza Stark reviewed gene: LRIT3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Night blindness, congenital stationary (complete), 1F, autosomal recessive 615058; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Oct 2021	Fetal anomalies v1.731	ZC4H2	Ivone Leong Phenotypes for gene: ZC4H2 were changed from ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY to Wieacker-Wolff syndrome, OMIM:314580; Wieacker-Wolff syndrome, female-restricted, OMIM:301041
18 Oct 2021	Fetal anomalies v1.730	AP1S2	Arina Puzriakova Phenotypes for gene: AP1S2 were changed from MENTAL RETARDATION X-LINKED TYPE 59 to Pettigrew syndrome, OMIM:304340
18 Oct 2021	Fetal anomalies v1.729	AP1S2	Arina Puzriakova Added comment: Comment on mode of inheritance: Review of literature did not reveal any confirmed affected females. Female carriers of AP1S2 variants are phenotypically normal and have mostly shown random X-inactivation. Huo et al., 2019 (PMID: 30714330) state that they identified a female patient (I-1) but this individual was not available for genetic testing and so it is unclear whether they harboured a variant on a one or both alleles. As no confirmed female cases have been reported and the allelic requirement remains elusive, the MOI should be set to the default XL (i.e. monoallelic in females may cause disease) as this will ensure that both mono and biallelic variants are picked up in females by the pipeline.
14 Oct 2021	Fetal anomalies v1.728	SCUBE3	Sarah Leigh Phenotypes for gene: SCUBE3 were changed from Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184 to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184; short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953
14 Oct 2021	Fetal anomalies v1.727	SCUBE3	Sarah Leigh changed review comment from: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 5 variants reported in 5 unrelated cases, together with supportive functional and mouse model studies (PMID 33308444).; to: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. PMID 33308444 reports eight SCUBE variants in nine unrelated families, including eighteen affected members. In vtro studies demonstrated a variable impact of disease-causing variants on transcript processing, protein secretion and function, resulting in dysregulation on bone morphogenetic protein (BMP) signaling and a Scube3−/− mouse showed shared phenotypic features with OMIM:619184. Prenatal growth retardation was evident in 8/11 relevant cases.
14 Oct 2021	Fetal anomalies v1.727	BMPR1B	Arina Puzriakova changed review comment from: Comment on mode of inheritance: Biallelic variants lead to the Demirhan type of acromesomelic dysplasia (MIM# 609441) which is pertinent to this panel. Monoallelic variants cause brachydactyly (MIM# 616849 and MIM# 112600) with dysplasia of only a single or few phalanges which would be difficult to diagnose prenatally. For this reason the MOI should remain as biallelic only on this panel.; to: Comment on mode of inheritance: Biallelic variants lead to the Demirhan type of acromesomelic dysplasia (MIM# 609441) which is pertinent to this panel. Monoallelic variants cause brachydactyly (MIM# 616849 and MIM# 112600) with dysplasia of only a single or few phalanges which would be difficult to diagnose prenatally. For this reason the MOI should remain as biallelic only on this panel. ----- Confirmed with clinical team that this is the appropriate MOI for this panel.
14 Oct 2021	Fetal anomalies v1.727	SCUBE3	Sarah Leigh gene: SCUBE3 was added gene: SCUBE3 was added to Fetal anomalies. Sources: Expert Review Amber,Other Q2_21_rating tags were added to gene: SCUBE3. Mode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCUBE3 were set to 33308444 Phenotypes for gene: SCUBE3 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184 Penetrance for gene: SCUBE3 were set to unknown
13 Oct 2021	Fetal anomalies v1.725	BHLHA9	Eleanor Williams Added comment: Comment on mode of inheritance: Biallelic single nucleotide variants in this gene are associated with Syndactyly, mesoaxial synostotic, with phalangeal reduction (OMIM:609432). Monoallelic duplications of the whole gene are associated with split hand/foot malformations, but it is not clear if they are inherited in an Mendelian manner (see review on the Limb disorders panel https://panelapp.genomicsengland.co.uk/panels/384/gene/BHLHA9/) Therefore the recommendation is that the mode of inheritance should be biallelic only for this gene, with region being eventually represented by a separate entity.
12 Oct 2021	Fetal anomalies v1.722	TMEM260	Sarah Leigh edited their review of gene: TMEM260: Added comment: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least eight variants have been reported in at least six unrelated cases. The variants included: one multi-exon deletion resulting in a frameshift, two smaller frameshifting deletions, two nonsense, one splicing change and two missense changes, one of which was shown by cDNA sequencing to result in skipping of exon 3 (PMID 34612517).; Changed rating: GREEN
11 Oct 2021	Fetal anomalies v1.720	WLS	Zornitza Stark gene: WLS was added gene: WLS was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: WLS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WLS were set to 34587386 Phenotypes for gene: WLS were set to structural congenital anomalies Review for gene: WLS was set to GREEN Added comment: - Homozygous variants in 10 affected persons from 5 unrelated families. - Affected individuals had multiorgan defects, including microcephaly, facial dysmorphism, foot syndactyly, renal agenesis, alopecia, iris coloboma, and heart defects. - The mutations affected WLS protein stability and Wnt signaling. Knock-in mice showed tissue and cell vulnerability consistent with Wnt-signaling intensity and individual and collective functions of Wnts in embryogenesis. Sources: Literature
11 Oct 2021	Fetal anomalies v1.720	WNT9B	Zornitza Stark gene: WNT9B was added gene: WNT9B was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: WNT9B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WNT9B were set to 34145744 Phenotypes for gene: WNT9B were set to Renal agenesis/hypoplasia/dysplasia Review for gene: WNT9B was set to AMBER Added comment: WNT9B plays a key role in the development of the mammalian urogenital system. It is essential for the induction of mesonephric and metanephric tubules, the regulation of renal tubule morphogenesis, and the regulation of renal progenitor cell expansion and differentiation. WNT9B−/− mice have renal agenesis/hypoplasia and reproductive tract abnormalities. Lemire et al. (2021) report 4 individuals from 2 unrelated consanguineous families with bilateral renal agenesis/hypoplasia/dysplasia and homozygous variants in WNT9B. The proband from Family 1 had bilateral renal cystic dysplasia and chronic kidney disease, with 2 deceased siblings with bilateral renal hypoplasia/agenesis. The 3 affected family members were homozygous for a Gly317Arg missense variant in WNT9B. Proband from Family 2 had renal hypoplasia/dysplasia, chronic kidney disease, and was homozygous for a Pro5Alafs*52 nonsense variant in WNT9B. The proband's unaffected brother is also homozygous for the nonsense variant in WNT9B, suggesting nonpenetrance. I wasn't sure which panel this is more pertinent to: we have added this gene to our CAKUT panel. Sources: Literature
07 Oct 2021	Fetal anomalies v1.720	TMEM260	Alistair Pagnamenta reviewed gene: TMEM260: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28318500, 34612517; Phenotypes: ventricular septal defects, truncus arteriosus, elevated creatinine levels; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
04 Oct 2021	Fetal anomalies v1.720	MED12	Eleanor Williams changed review comment from: Comment on mode of inheritance: Variants in this gene have also been reported in females with Hardikar syndrome (Li et al 2021, PMID: 33244166). The phenotype includes facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation. In addition Polla et al 2021 (PMID: 33244165) and Riccardi et al 2021 (PMID: 34079076) report 22 females in total with de novo variants in MED12. Some physical features such as syndactyly (10/22) and anteriorly placed anus (4/22) are noted. 12/22 have severe intellectual disability. X-linked hemizygous mutation in males, monoallelic mutations in females is the appropriate mode of inheritance for Hardikar syndrome but there are carrier implications for the predominantly male-only phenotypes associated with this gene (e.g. Lujan-Fryns syndrome, Ohdo syndrome, X-linked and Opitz-Kaveggia syndrome) in female cases. ; to: Comment on mode of inheritance: Variants in this gene have also been reported in females with Hardikar syndrome (Li et al 2021, PMID: 33244166). The phenotype includes facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation. In addition Polla et al 2021 (PMID: 33244165) and Riccardi et al 2021 (PMID: 34079076) report 22 females in total with de novo variants in MED12. Some physical features such as syndactyly (10/22) and anteriorly placed anus (4/22) are noted. 12/22 have severe intellectual disability. X-linked hemizygous mutation in males, monoallelic mutations in females is the appropriate mode of inheritance for Hardikar syndrome but there are carrier implications for the predominantly male-only phenotypes associated with this gene (e.g. Lujan-Fryns syndrome, Ohdo syndrome, X-linked and Opitz-Kaveggia syndrome) in female cases, therefore waiting for GMS review before considering changing the mode of inheritance.
03 Oct 2021	Fetal anomalies v1.720	MED12	Eleanor Williams changed review comment from: Comment on mode of inheritance: Variants in this gene have also been reported in females with Hardikar syndrome (the phenotype that includes facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation). In addition Polla et al 2021 (PMID: 33244165) and Riccardi et al 2021 (PMID: 34079076) report 22 females in total with de novo variants in MED12. Some physical features such as syndactyly (10/22) and anteriorly placed anus (4/22) also noted. 12/22 have severe intellectual disability. X-linked hemizygous mutation in males, monoallelic mutations in females is the appropriate mode of inheritance for Hardikar syndrome but there are carrier implications for the predominantly male-only phenotypes associated with this gene (e.g. Lujan-Fryns syndrome, Ohdo syndrome, X-linked and Opitz-Kaveggia syndrome) in female cases. ; to: Comment on mode of inheritance: Variants in this gene have also been reported in females with Hardikar syndrome (Li et al 2021, PMID: 33244166). The phenotype includes facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation. In addition Polla et al 2021 (PMID: 33244165) and Riccardi et al 2021 (PMID: 34079076) report 22 females in total with de novo variants in MED12. Some physical features such as syndactyly (10/22) and anteriorly placed anus (4/22) are noted. 12/22 have severe intellectual disability. X-linked hemizygous mutation in males, monoallelic mutations in females is the appropriate mode of inheritance for Hardikar syndrome but there are carrier implications for the predominantly male-only phenotypes associated with this gene (e.g. Lujan-Fryns syndrome, Ohdo syndrome, X-linked and Opitz-Kaveggia syndrome) in female cases.
30 Sep 2021	Fetal anomalies v1.720	MED12	Eleanor Williams changed review comment from: Comment on mode of inheritance: Variants in this gene have also been reported in females with Hardikar syndrome and phenotype that includes facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation. X-linked hemizygous mutation in males, monoallelic mutations in females is the appropriate mode of inheritance for Hardikar syndrome but there are carrier implications for the male-only phenotypes associated with this gene (e.g. Lujan-Fryns syndrome, Ohdo syndrome, X-linked and Opitz-Kaveggia syndrome) in female cases; to: Comment on mode of inheritance: Variants in this gene have also been reported in females with Hardikar syndrome (the phenotype that includes facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation). In addition Polla et al 2021 (PMID: 33244165) and Riccardi et al 2021 (PMID: 34079076) report 22 females in total with de novo variants in MED12. Some physical features such as syndactyly (10/22) and anteriorly placed anus (4/22) also noted. 12/22 have severe intellectual disability. X-linked hemizygous mutation in males, monoallelic mutations in females is the appropriate mode of inheritance for Hardikar syndrome but there are carrier implications for the predominantly male-only phenotypes associated with this gene (e.g. Lujan-Fryns syndrome, Ohdo syndrome, X-linked and Opitz-Kaveggia syndrome) in female cases.
28 Sep 2021	Fetal anomalies v1.718	MED12	Eleanor Williams Added comment: Comment on mode of inheritance: Variants in this gene have also been reported in females with Hardikar syndrome and phenotype that includes facial clefting, pigmentary retinopathy, biliary anomalies, hydronephrosis, and intestinal malrotation. X-linked hemizygous mutation in males, monoallelic mutations in females is the appropriate mode of inheritance for Hardikar syndrome but there are carrier implications for the male-only phenotypes associated with this gene (e.g. Lujan-Fryns syndrome, Ohdo syndrome, X-linked and Opitz-Kaveggia syndrome) in female cases
22 Sep 2021	Fetal anomalies v1.717	GREB1L	Rhiannon Mellis edited their review of gene: GREB1L: Added comment: A further prenatal case reported in PMID 31974414 (Vora et al 2020) - c.4881_4882del; [p.H1627fs] inherited from parent, 2 affected pregnancies with bilateral renal agenesis plus a living child with single kidney.; Changed rating: GREEN; Changed publications to: PMID: 31424080, 32378186, 31974414
14 Sep 2021	Fetal anomalies v1.717	GNB1	Sarah Leigh Added comment: Comment on mode of pathogenicity: Gen2Phen entry for GNB1 (https://www.ebi.ac.uk/gene2phenotype/gfd?dbID=2121) lists the mutation consequence summary as Activating
14 Sep 2021	Fetal anomalies v1.716	GRIN1	Sarah Leigh edited their review of gene: GRIN1: Added comment: The MOI monoallelic is listed for this panel, as the phenotype was initially listed as epileptic encephalopathy and only one biallelic case has been reported with this phenotype. However, other fetal phenotypes are associated with both monoallelic and biallelic GRIN1 variants in Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant OMIM:614254 and Neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive OMIM:617820.; Changed rating: GREEN
14 Sep 2021	Fetal anomalies v1.714	GNB1	Sarah Leigh Phenotypes for gene: GNB1 were changed from Severe Neurodevelopmental Disability, Hypotonia, and Seizures to Mental retardation, autosomal dominant 42 OMIM:616973; intellectual disability, autosomal dominant 42 MONDO:0014855
14 Sep 2021	Fetal anomalies v1.713	CNTN1	Arina Puzriakova changed review comment from: Comment on list classification: Upgraded from Red to Amber as two families with homozygous variants and a relevant phenotype have now been reported in literature.; to: Comment on list classification: Rating Amber as two families with homozygous variants have now been reported in literature. Both display fetally-relevant phenotypes such as fetal akinesia, polyhydramnios, and contractures.
14 Sep 2021	Fetal anomalies v1.713	CNTN1	Arina Puzriakova Entity copied from Arthrogryposis v3.122
09 Sep 2021	Fetal anomalies v1.712	FOXE3	Eleanor Williams Phenotypes for gene: FOXE3 were changed from Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Cataract 34, multiple types, OMIM:612968; {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA to Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Cataract 34, multiple types, OMIM:612968; {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA; ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS
09 Sep 2021	Fetal anomalies v1.710	FOXE3	Eleanor Williams Phenotypes for gene: FOXE3 were changed from ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; CONGENITAL PRIMARY APHAKIA to Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Cataract 34, multiple types, OMIM:612968; {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA
12 Aug 2021	Fetal anomalies v1.705	PRKD1	Arina Puzriakova Added comment: Comment on mode of inheritance: MOI was reassessed following a recent review by Zornitza Stark highlighting the potential involvement of biallelic variants. Currently the evidence for biallelic inheritance only suffices for an Amber rating and so I have kept the MOI as monoallelic but with a 'watchlist_MOI' tag to monitor for additional evidence. The Genomics England pipeline would still pick up biallelic cases under the current MOI.
04 Aug 2021	Fetal anomalies v1.701	KIF1A	Arina Puzriakova Phenotypes for gene: KIF1A were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 9; NEUROPATHY, HEREDITARY SENSORY, TYPE IIC to NEUROPATHY, HEREDITARY SENSORY, TYPE IIC, 614213; NESCAV SYNDROME, 614255
02 Aug 2021	Fetal anomalies v1.700	TBX4	Ivone Leong Phenotypes for gene: TBX4 were changed from SMALL PATELLA SYNDROME to Ischiocoxopodopatellar syndrome with or without pulmonary arterial hypertension, OMIM:147891
02 Aug 2021	Fetal anomalies v1.699	TWIST2	Ivone Leong Phenotypes for gene: TWIST2 were changed from ABLEPHARON MACROSTOMIA SYNDROME; SETLEIS SYNDROME; Ablepharon-macrostomia syndrome, 200110; Barber-Say syndrome, 209885 to Ablepharon-macrostomia syndrome, 200110; Barber-Say syndrome, 209885
27 Jul 2021	Fetal anomalies v1.696	BMPR1B	Arina Puzriakova Added comment: Comment on mode of inheritance: Biallelic variants lead to the Demirhan type of acromesomelic dysplasia (MIM# 609441) which is pertinent to this panel. Monoallelic variants cause brachydactyly (MIM# 616849 and MIM# 112600) with dysplasia of only a single or few phalanges which would be difficult to diagnose prenatally. For this reason the MOI should remain as biallelic only on this panel.
27 Jul 2021	Fetal anomalies v1.692	MYOD1	Ivone Leong changed review comment from: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.; to: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics) on Congenital myopathy panel. This gene is associated with a relevant phenotype in OMIM but not in Gene2Phenotype. There is currently not enough evidence to support a gene-disease association on this panel (Fetal anomalies). Therefore, this gene has been given an Amber rating.
09 Jul 2021	Fetal anomalies v1.689	DMPK_CTG	Arina Puzriakova Added comment: Comment on list classification: The genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (normal range: 5–37; pathological: >50–>2000). Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1. The DMPK gene was demoted and this STR was added to this panel to ensure that cases are appropriately detected. Only relevant prenatally if it is a large expansion. A small expansion has adult onset and would be an incidental finding. Therefore, this STR will be flagged for GMS expert review to determine the appropriate 'pathogenic number of repeats' relevant to this panel.
09 Jul 2021	Fetal anomalies v1.687	DMPK	Arina Puzriakova changed review comment from: Comment on list classification: This gene should be demoted from Green to Red at the next GMS review due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1.; to: Comment on list classification: This gene should be demoted from Green to Red at the next GMS review due to the disease-causing mechanism - genetic defect is an amplified trinucleotide CTG repeat in the 3'UTR (currently NGS unreportable), rather than SNVs within the gene. Evidence level for this is high - it is a confirmed DD gene for DYSTROPHIA MYOTONICA TYPE 1. DMPK_CTG STR will be added to the panel to capture this entity and ensure that cases are detected.
08 Jul 2021	Fetal anomalies v1.686	WBP11	Ivone Leong Phenotypes for gene: WBP11 were changed from malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems to Vertebral, cardiac, tracheoesophageal, renal, and limb defects, OMIM:619227
08 Jul 2021	Fetal anomalies v1.685	TMEM94	Ivone Leong Phenotypes for gene: TMEM94 were changed from Intellectual developmental disorder with cardiac defects and dysmorphic facies to Intellectual developmental disorder with cardiac defects and dysmorphic facies, OMIM:618316
05 Jul 2021	Fetal anomalies v1.683	ATAD3A	Arina Puzriakova Phenotypes for gene: ATAD3A were changed from ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; Harel-Yoon syndrome, 617183 to ATAD3A disorder - global developmental delay, hypotonia, optic atrophy, axonal neuropathy, and hypertrophic cardiomyopathy; Harel-Yoon syndrome, OMIM:617183; Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, OMIM:618810
05 Jul 2021	Fetal anomalies v1.682	ATAD3A	Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be updated from 'Monoallelic' to 'Both mono- and biallelic' at the next GMS panel review. At least 7 unrelated families have now been reported with biallelic SNVs in ATAD3A, including 5 families with Harel-Yoon syndrome, MIM# 617183 (PMID: 27640307; 32607449; 33845882) and 2 families with neonatal lethal pontocerebellar hypoplasia, MIM# 618810 (PMID: 29053797; 31727539). Both of these phenotypes are pertinent to this panel.
21 Jun 2021	Fetal anomalies v1.679	CELSR1	Arina Puzriakova Phenotypes for gene: CELSR1 were changed from hereditary lymphedema to Lymphatic malformation 9, OMIM:619319
16 Jun 2021	Fetal anomalies v1.678	POLR3B	Arina Puzriakova Phenotypes for gene: POLR3B were changed from AUTOSOMAL RECESSIVE MENTAL RETARDATION; LEUKODYSTROPHY, HYPOMYELINATING, 8, WITH OR WITHOUT OLIGODONTIA AND/OR HYPOGONADOTROPIC HYPOGONADISM to Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, OMIM:614381
11 Jun 2021	Fetal anomalies v1.674	PRKD1	Zornitza Stark reviewed gene: PRKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27479907, 32817298, 25713110, 33919081; Phenotypes: Congenital heart defects and ectodermal dysplasia, 617364, Congenital heart disease, autosomal recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
07 Jun 2021	Fetal anomalies v1.674	SMARCC1	Arina Puzriakova commented on gene: SMARCC1: Penetrance for gene SMARCC1 was set from None to Incomplete
03 Jun 2021	Fetal anomalies v1.673	FOXG1	Sarah Leigh Phenotypes for gene: FOXG1 were changed from CONGENITAL VARIANT OF RETT SYNDROME to Rett Syndrome, congenital variant OMIM:613454; Rett syndrome, congenital variant MONDO:0013270
02 Jun 2021	Fetal anomalies v1.672	ZNF3	Arina Puzriakova gene: ZNF3 was added gene: ZNF3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ZNF3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ZNF3 were set to 32732226 Phenotypes for gene: ZNF3 were set to Hydrocephaly; Facial cleft Review for gene: ZNF3 was set to RED Added comment: Novel candidate gene identified in a fetus with hydrocephaly and facial cleft detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including a median cleft palate, partial maxillar agenesis, bilateral severe microphthalmia, arhinencephaly, partial thalamic fusion. A homozygous truncating variant (c.396A>G/ p.132Trpext69) in ZNF3 was found by exome sequencing. Sources: Literature
02 Jun 2021	Fetal anomalies v1.671	WDR91	Arina Puzriakova gene: WDR91 was added gene: WDR91 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: WDR91 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WDR91 were set to 32732226 Phenotypes for gene: WDR91 were set to Hygroma; Hydrocephaly Review for gene: WDR91 was set to RED Added comment: Novel candidate gene identified in a fetus with hygroma and hydrocephaly detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma, macrocephaly, abnormal ears, unilateral simian crease, hydrocephaly, cerebellar hypoplasia, and interventricular communication. A homozygous truncating variant was found by exome sequencing with concordant segregation among 4 affected fetus, 2 healthy sibs and both parents Sources: Literature
02 Jun 2021	Fetal anomalies v1.670	SPTBN5	Arina Puzriakova gene: SPTBN5 was added gene: SPTBN5 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SPTBN5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPTBN5 were set to 32732226 Phenotypes for gene: SPTBN5 were set to Multicystic kidney; Oligohydramnios Review for gene: SPTBN5 was set to RED Added comment: Novel candidate gene identified in a fetus with multicystic kidney and oligohydramnios detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hygroma coli, spina bifida, polycystic kidneys, facial dysmorphism, common mesenterin, rachischisis, sacral vertebral agenesis. Compound heterozygous variants including a truncating variant were found by exome sequencing. Sources: Literature
02 Jun 2021	Fetal anomalies v1.669	SCN7A	Arina Puzriakova gene: SCN7A was added gene: SCN7A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SCN7A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCN7A were set to 32732226 Phenotypes for gene: SCN7A were set to Holoprosencephaly Review for gene: SCN7A was set to RED Added comment: Novel candidate gene identified in a fetus with holoprosencephaly detected by ultrasound. Autopsy showed multiple congenital abnormalities including IUGR, microcephaly, bilateral, ablepharon, corpus callosum agenesis, myelomeningocele, tracheal atresia, absent nipples, unilateral simian crease, and hypoplastic phalanges. Compound heterozygous variants including a truncating variant were found by exome sequencing with concordant segregation. Sources: Literature
02 Jun 2021	Fetal anomalies v1.668	MYBPC2	Arina Puzriakova gene: MYBPC2 was added gene: MYBPC2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MYBPC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYBPC2 were set to 32732226 Phenotypes for gene: MYBPC2 were set to Fetal akinesia; Hydrops; Hygroma; Multiple pterygium Review for gene: MYBPC2 was set to RED Added comment: Novel candidate gene identified in a fetus with fetal akinesia detected by ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, hygroma, multiple pterygium. A homozygous variant (c.3394G>A/ p.Glu1132Lys) in MYBPC2 was found by exome sequencing with concordant segregation among one affected sib and two unaffected sibs. Sources: Literature
02 Jun 2021	Fetal anomalies v1.667	DNAH2	Arina Puzriakova changed review comment from: Novel candidate gene identified in a fetus with hydrops and complex cardiopathy detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, heterotaxy, complex cardiopathy, hypotrophic splenium, and common mesentery. Compound heterozygous variants including a truncating variant were found exome sequencing. Sources: Literature; to: Novel candidate gene identified in a fetus with hydrops and complex cardiopathy detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, heterotaxy, complex cardiopathy, hypotrophic splenium, and common mesentery. Compound heterozygous variants including a truncating variant were found by exome sequencing. Sources: Literature
02 Jun 2021	Fetal anomalies v1.667	DNAH2	Arina Puzriakova gene: DNAH2 was added gene: DNAH2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: DNAH2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DNAH2 were set to 32732226 Phenotypes for gene: DNAH2 were set to Hydrops; Complex cardiopathy Review for gene: DNAH2 was set to RED Added comment: Novel candidate gene identified in a fetus with hydrops and complex cardiopathy detected by fetal ultrasound. Autopsy showed multiple congenital abnormalities including hydrops, heterotaxy, complex cardiopathy, hypotrophic splenium, and common mesentery. Compound heterozygous variants including a truncating variant were found exome sequencing. Sources: Literature
02 Jun 2021	Fetal anomalies v1.666	SMARCC1	Arina Puzriakova Penetrance for gene SMARCC1 was set from to None
02 Jun 2021	Fetal anomalies v1.665	SMARCC1	Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to rate this gene as Green at the next GMS panel update. At least 9 unrelated families with different heterozygous variants in the SMARCC1 gene (PMID: 29983323; 32732226; 33077954). Note there is reduced penetrance as 4 variants were transmitted from an unaffected parent (3 variants occurred de novo; 1 was unphased). All affected individuals presented congenital hydrocephalus and aqueductal stenosis. Other variable features include corpus callosum abnormalities, septal agenesis, developmental delay, along with cardiac and skeletal abnormalities.; to: Comment on list classification: There is sufficient evidence to rate this gene as Green at the next GMS panel update - sufficient cases (>3) of congenital hydrocephaly which may conceivably be detected prenatally. At least 9 unrelated families with different heterozygous variants in the SMARCC1 gene (PMID: 29983323; 32732226; 33077954). Note there is reduced penetrance as 4 variants were transmitted from an unaffected parent (3 variants occurred de novo; 1 was unphased). All affected individuals presented congenital hydrocephalus and aqueductal stenosis. Other variable features include corpus callosum abnormalities, septal agenesis, developmental delay, along with cardiac and skeletal abnormalities.
02 Jun 2021	Fetal anomalies v1.665	SMARCC1	Arina Puzriakova gene: SMARCC1 was added gene: SMARCC1 was added to Fetal anomalies. Sources: Expert Review Amber,Literature Q2_21_rating tags were added to gene: SMARCC1. Mode of inheritance for gene: SMARCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SMARCC1 were set to 24170322; 29983323; 32732226; 33077954 Phenotypes for gene: SMARCC1 were set to Congenital hydrocephalus; Aqueductal stenosis; Septal agenesis; Corpus callosum abnormalities
02 Jun 2021	Fetal anomalies v1.664	DPH1	Arina Puzriakova Added comment: Comment on list classification: There are sufficient cases of fetally-relevant phenotypes from unrelated families to warrant a Green rating on this panel.
02 Jun 2021	Fetal anomalies v1.663	DPH1	Arina Puzriakova gene: DPH1 was added gene: DPH1 was added to Fetal anomalies. Sources: Literature Q2_21_rating tags were added to gene: DPH1. Mode of inheritance for gene: DPH1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DPH1 were set to 25558065; 29362492; 30877278; 32732226 Phenotypes for gene: DPH1 were set to Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901 Review for gene: DPH1 was set to GREEN Added comment: Biallelic variants in this gene cause a neurodevelopmental disorder characterised by ID/DD, short stature, dysmorphic features, craniofacial and ectodermal anomalies. Several reports note antenatal anomalies and multiple congenital abnormalities that may conceivably be detected prenatally. Fetal ultrasound phenotypes reported in literature include IUGR, polyhydramnios, craniostenosis, cardiac abnormalities, brain anomalies, and polydactyly (PMID: 25558065; 29362492; 30877278; 32732226) Sources: Literature
19 May 2021	Fetal anomalies v1.658	FKBP8	Arina Puzriakova Added comment: Comment on list classification: Additional publication identified by Rhiannon Mellis (GOSH) describing a fetus with severe thoracolumbar scoliosis and caudal spinal cord agenesis and a homozygous (c.C572T:p.P191L) variant in FKBP8 (PMID: 29261186). Note the phenotype and MOI are distinct from other reports (PMID: 32969478). FKBP8 remains a candidate gene and so maintaining Amber rating in anticipation of additional cases to corroborate pathogenicity.
19 May 2021	Fetal anomalies v1.653	PLD1	Arina Puzriakova Phenotypes for gene: PLD1 were changed from HP:0001654; HP:0001627; HP:0001638 to Cardiac valvular defect, developmental, OMIM:212093
19 May 2021	Fetal anomalies v1.652	CLTC	Arina Puzriakova reviewed gene: CLTC: Rating: ; Mode of pathogenicity: None; Publications: 33743358; Phenotypes: Mental retardation, autosomal dominant 56, OMIM:617854; Mode of inheritance: None
19 May 2021	Fetal anomalies v1.652	CLTC	Arina Puzriakova Phenotypes for gene: CLTC were changed from Epilepsy and intellectual disability to Mental retardation, autosomal dominant 56, OMIM:617854; Fetal akinesia; Fetal growth restriction
19 May 2021	Fetal anomalies v1.650	TSEN54	Arina Puzriakova Phenotypes for gene: TSEN54 were changed from PONTOCEREBELLAR HYPOPLASIA TYPE 2 AND TYPE 4; Pontocerebellar hypoplasia type 2A, 277470; Pontocerebellar hypoplasia type 4, 225753 to ?Pontocerebellar hypoplasia type 5, OMIM:610204; Pontocerebellar hypoplasia type 2A, OMIM:277470; Pontocerebellar hypoplasia type 4, OMIM:225753
07 May 2021	Fetal anomalies v1.648	RFWD3	Rhiannon Mellis gene: RFWD3 was added gene: RFWD3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: RFWD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RFWD3 were set to PMID: 2869192 Phenotypes for gene: RFWD3 were set to Fanconi anaemia Review for gene: RFWD3 was set to RED Added comment: Fetally relevant phenotype but only one case reported in literature so far so await further cases. (In the single reported case, the child had: intrauterine growth retardation, duodenal atresia, radial ray malformations, bilateral absent thumbs, small midface, ventriculomegaly, hypoplastic left kidney, and polysplenia. Brain MRI showed rarefied periventricular white matter, narrow corpus callosum, abnormal pituitary, and Chiari malformation type I) Sources: Literature
04 May 2021	Fetal anomalies v1.645	FOXP4	Ivone Leong gene: FOXP4 was added gene: FOXP4 was added to Fetal anomalies. Sources: Literature Q2_21_rating, Q2_21_phenotype tags were added to gene: FOXP4. Mode of inheritance for gene: FOXP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FOXP4 were set to 33110267 Phenotypes for gene: FOXP4 were set to Neurodevelopmental disorder; multiple congenital abnormalities Review for gene: FOXP4 was set to AMBER Added comment: This gene is associated with a phenotype in Gene2Phenotype but not in OMIM. This gene is present as an Amber gene on the Intellectual disability panel (Version 3.1052) with the following reviews: "This gene is a little bit difficult to place, may be Green on Fetal Anomalies panel? Eight unrelated individuals reported, seven de novo missense, and one individual with a truncating variant. Detailed phenotypic information available on 6. Overlapping features included speech and language delays, growth abnormalities, congenital diaphragmatic hernia (2/6), cervical spine abnormalities, and ptosis. Intellectual disability described as mild in 2, some had normal intellect despite the early speech and language delays, hence Amber rating here. Sources: Literature Zornitza Stark (Australian Genomics), 4 Nov 2020" "Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). As ID is not present in the majority of affected patients, and the affected individuals only show mild ID, this gene has been given an Amber rating. Ivone Leong (Genomics England Curator), 4 Dec 2020" After discussion with the Genomics England Clinical Team it was decided that this gene should be added to this panel as an Amber gene and subject to review by the GMS specialist group. Sources: Literature
28 Apr 2021	Fetal anomalies v1.644	CHD4	Sarah Leigh Added comment: Comment on phenotypes: Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease
28 Apr 2021	Fetal anomalies v1.644	CHD4	Sarah Leigh Phenotypes for gene: CHD4 were changed from Syndromic INTELLECTUAL DISABILITY with or without congenital heart disease to Sifrim-Hitz-Weiss syndrome OMIM:617159; Sifrim-Hitz-Weiss syndrome MONDO:0014946
28 Apr 2021	Fetal anomalies v1.643	FBN2	Sarah Leigh Phenotypes for gene: FBN2 were changed from CONGENITAL CONTRACTURAL ARACHNODACTYLY to Contractural arachnodactyly, congenital OMIM:121050; congenital contractural arachnodactyly MONDO:0007363
13 Apr 2021	Fetal anomalies v1.640	FAR1	Arina Puzriakova Phenotypes for gene: FAR1 were changed from SEVERE INTELLECTUAL DISABILITY, EPILEPSY, AND CATARACTS to Peroxisomal fatty acyl-CoA reductase 1 disorder, OMIM:616154
13 Apr 2021	Fetal anomalies v1.639	LARS2	Arina Puzriakova Phenotypes for gene: LARS2 were changed from PERRAULT SYNDROME to Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021
13 Apr 2021	Fetal anomalies v1.638	LARS2	Arina Puzriakova Publications for gene: LARS2 were set to
13 Apr 2021	Fetal anomalies v1.637	LARS2	Arina Puzriakova Tag Q2_21_rating tag was added to gene: LARS2.
13 Apr 2021	Fetal anomalies v1.637	LARS2	Arina Puzriakova reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26537577, 32442335; Phenotypes: Hydrops, lactic acidosis, and sideroblastic anemia, OMIM:617021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
09 Apr 2021	Fetal anomalies v1.637	PLD1	Suzanne Drury gene: PLD1 was added gene: PLD1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PLD1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLD1 were set to 33645542 Phenotypes for gene: PLD1 were set to HP:0001654; HP:0001627; HP:0001638 Review for gene: PLD1 was set to GREEN Added comment: PMID 33645542 identified 30 patients from 21 unrelated families of different ancestries with biallelic PLD1 variants. All 30 patients were diagnosed with severe congenital heart disease or cardiomyopathy at the fetal or neonatal stage. PLD1 can also cause neonatal cardiomyopathy in the absence of congenital heart defects. Sources: Literature
07 Apr 2021	Fetal anomalies v1.637	BBS1	Sarah Leigh Phenotypes for gene: BBS1 were changed from BARDET-BIEDL SYNDROME TYPE 1 to Bardet-Biedl syndrome 1 OMIM:209900; Bardet-Biedl syndrome 1 MONDO:0008854
20 Mar 2021	Fetal anomalies v1.636	KIDINS220	Eleanor Williams Added comment: Comment on mode of inheritance: Changing mode of inheritance to Biallelic with a recommendation for a green rating for this mode of inhertiance as there are now 3 cases with biallelic inheritance and a fetal phenotype.
11 Mar 2021	Fetal anomalies v1.635	KIDINS220	Eleanor Williams Added comment: Comment on mode of inheritance: After consultation with the Genomics England clinical team changing the MOI rating to BOTH monoallelic and biallelic but leaving the amber rating with a recommendation for this gene to be discussed at the next GMS review with regards to the 2 biallelic cases and the partially supportive mouse model.
03 Mar 2021	Fetal anomalies v1.633	KIDINS220	Eleanor Williams Phenotypes for gene: KIDINS220 were changed from Spastic paraplegia, intellectual disability, nystagmus, and obesity. to Spastic paraplegia, intellectual disability, nystagmus, and obesity OMIM:617296; spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0015007; cerebral ventriculomegaly; limb contractures
03 Mar 2021	Fetal anomalies v1.630	KIDINS220	Eleanor Williams changed review comment from: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases. 2 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap: PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation. PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein. PMID: 28934391 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.; to: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases. 2 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap: PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation. PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein. PMID: 22048169 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.
03 Mar 2021	Fetal anomalies v1.630	KIDINS220	Eleanor Williams changed review comment from: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases. 2 biallelic cases associated with cerebral ventriculomegaly and limb contractures in the following two publications: PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation. PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein. PMID: 28934391 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.; to: Associated with Spastic paraplegia, intellectual disability, nystagmus, and obesity #617296 in OMIM for monoallelic cases. 2 biallelic cases associated with cerebral ventriculomegaly and limb contractures, plus a mouse model that shows some phenotypic overlap: PMID: 33205811 - Jacquemin et al 2021 - report a consanguineous family of Pakistani origin in which 3 fetuses presented with brain ventriculomegaly and limb contractures. Autopsy of one fetus identifed bilateral club feet and club hands. They were found by WES to share a very rare homozygous variant of KIDINS220 (c.2327_2336del, Gln713_Leu715del). Parents and healthy siblings were heterozygous for this variant. Severe ventriculomegaly was diagnosed as early as 14 weeks. Binding of KIDINS220 to TrkA is decreased by the deletion mutation. PMID: 28934391 - Mero et al 2017 - report a consanguineous couple in which 4 fetuses presented with enlarged cerebral ventricles and limb contractures. Exome sequencing in two of the fetuses found a shared homozygous frameshift variant in exon 24 in KIDINS220 ((NM_020738:c.3394_3403del; p.Gln1132Serfs30). Healthy family members were either carriers or homozygous for the wild-type allele. It is thought that the variant leads to NMD and complete loss of KIDINS220 protein. PMID: 28934391 - Cesca et al 2011 - report a Kidins220 mutant mouse. Kidins220 -/- mice die at late stages of gestation and show extensive neuronal cell death in the central and peripheral nervous systems, as well as heart malformations.
24 Feb 2021	Fetal anomalies v1.628	ARMC4	Catherine Snow Tag new-gene-name tag was added to gene: ARMC4.
24 Feb 2021	Fetal anomalies v1.628	ARMC4	Catherine Snow commented on gene: ARMC4
11 Feb 2021	Fetal anomalies v1.627	WBP11	Eleanor Williams gene: WBP11 was added gene: WBP11 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: WBP11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: WBP11 were set to 33276377 Phenotypes for gene: WBP11 were set to malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems Review for gene: WBP11 was set to GREEN Added comment: PMID: 33276377 - Martin et al 2020 - report 13 affected individuals from 7 unrelated families identified through various different cohort analysis (vertebral malformation, renal hypodysplasia, syndromic esophageal atresia, multiple congenital anomalies) in whom a WBP11 heterozygous variant is considered the top causative candidate. 5 identified variants were predicted to be protein truncating whilst the 6th was a missense variant. All variants are absent from population databases. In family 1, the variant was inherited from the apparently unaffected mother, indicating reduced penetrance, and phenotypic variance within families was observed. Phenotypes covered cardiac, vertebral, renal, craniofacial and gastrointestinal systems. At least at least 5 of the patients affected had features in three component organs so can be considered a VACTERL association. Wbp11 heterozygous null mice had vertebral and renal anomalies. Sources: Literature
10 Feb 2021	Fetal anomalies v1.626	OTUD5	Arina Puzriakova Added comment: Comment on list classification: At least 8 families reported with a multiple congenital anomaly disorder and distinct hemizygous variants in this gene (PMIDs: 33131077 and 33523931). Phenotype may conceivably be detected prenatally and therefore this gene should be promoted to Green at the next GMS panel update.
10 Feb 2021	Fetal anomalies v1.625	OTUD5	Arina Puzriakova gene: OTUD5 was added gene: OTUD5 was added to Fetal anomalies. Sources: Expert Review Q2_21_rating tags were added to gene: OTUD5. Mode of inheritance for gene: OTUD5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OTUD5 were set to 33131077; 33523931 Phenotypes for gene: OTUD5 were set to Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056 Review for gene: OTUD5 was set to GREEN Added comment: OTUD5 is associated with a relevant phenotype in OMIM but not yet in Gene2Phenotype. - PMID: 33131077 (2021) - 13 male patients from a single family with three generations affected. Patients presented prenatally or during the neonatal period with IUGR, ventriculomegaly, hydrocephalus, hypotonia, congenital heart defects, hypospadias, and severe neurodevelopmental delay. The disease is typically fatal during infancy, mainly due to sepsis (pneumonias). Female carriers are asymptomatic. WGS in four individuals identified a unique candidate variant in the OTUD5 gene (NM_017602.3:c.598G > A, p.Glu200Lys). The variant cosegregated with the disease in 10 tested individuals. - PMID: 33523931 (2021) - Another 10 individuals from 7 families reported. Key features include poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Most affected individuals also have hypotonia and dysmorphic craniofacial features. Brain imaging typically shows enlarged ventricles and thin corpus callosum; some have microcephaly, whereas others have hydrocephalus. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade. Sources: Expert Review
08 Feb 2021	Fetal anomalies v1.624	SYNE1	Arina Puzriakova Phenotypes for gene: SYNE1 were changed from SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 8; EMERY-DREIFUSS MUSCULAR DYSTROPHY 4, AUTOSOMAL RECESSIVE to Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484; Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778
08 Feb 2021	Fetal anomalies v1.622	SYNE1	Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber but there is sufficient evidence to promote to Green at the next GMS panel update - at least 3 unrelated cases with arthrogryposis multiplex congenita (AMC) which may be detected prenatally.
08 Feb 2021	Fetal anomalies v1.621	SYNE1	Arina Puzriakova reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19542096, 24319099, 27782104; Phenotypes: Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484, Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
08 Feb 2021	Fetal anomalies v1.620	MYL9	Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber as there are now two unrelated families presenting features of MMIHS, associated with different biallelic variants in the MYL9 gene (PMIDs: 29453416; 33031641). Additional cases/functional evidence required prior to inclusion as diagnostic-grade.
08 Feb 2021	Fetal anomalies v1.617	SLC20A1	Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Rating Amber but there is sufficient evidence to promote to Green. At least three unrelated families with a BEEC phenotype (fetally-relevant) and different heterozygous variants in this gene (PMID: 32850778). In vitro assays and zebrafish model support pathogenicity.
02 Feb 2021	Fetal anomalies v1.612	SUFU	Arina Puzriakova changed review comment from: The patients described by Schroder et al 2020 (PMID: 33024317) display cerebellar abnormalities that were said to be within the milder range of the Joubert clinical spectrum. This gene will be flagged for review by the GMS team with regards to whether these features may conceivably be detected prenatally (added 'for-review' tag). Note that these individuals harboured heterozygous truncating variants, and monoallelic variants in this gene have also previously been associated with Basal cell nevus syndrome and Medulloblastoma.; to: SUFU was reassessed in line with the recent expert review by Rhiannon Mellis (GOSH). The patients described by Schroder et al 2020 (PMID: 33024317) display cerebellar abnormalities that were said to be within the milder range of the Joubert clinical spectrum. However, it is unclear whether these features may conceivably be detected prenatally and therefore this gene will be flagged for review by the GMS team with regards to phenotypic fit for this panel (added 'for-review' tag). Note that unlike the 2 Joubert syndrome families with biallelic variants reported by De Mori et al. (2017, PMID: 28965847), these individuals harboured heterozygous truncating variants in the SUFU gene. Monoallelic variants have previously been associated with basal cell nevus syndrome and medulloblastoma, and there was no evidence of tumours in any of the families described by Schroder et al.
01 Feb 2021	Fetal anomalies v1.609	SMPD4	Arina Puzriakova Phenotypes for gene: SMPD4 were changed from Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, OMIM:618622; Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, MONDO:0032838
01 Feb 2021	Fetal anomalies v1.604	SIX6	Arina Puzriakova Phenotypes for gene: SIX6 were changed from Optic disc anomalies with retinal and/or macular dystrophy to Optic disc anomalies with retinal and/or macular dystrophy, OMIM:212550; Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, MONDO:0008927
01 Feb 2021	Fetal anomalies v1.595	SMS	Arina Puzriakova Phenotypes for gene: SMS were changed from SNYDER-ROBINSON SYNDROME to Mental retardation, X-linked, Snyder-Robinson type, OMIM:309583; Syndromic X-linked intellectual disability Snyder type, MONDO:0010664
01 Feb 2021	Fetal anomalies v1.586	SGCG	Arina Puzriakova Phenotypes for gene: SGCG were changed from Muscular dystrophy, limb-girdle, autosomal recessive 5 to Muscular dystrophy, limb-girdle, autosomal recessive 5, OMIM:253700; Autosomal recessive limb-girdle muscular dystrophy type 2C, MONDO:0009677
01 Feb 2021	Fetal anomalies v1.577	TOE1	Arina Puzriakova Phenotypes for gene: TOE1 were changed from PONTOCEREBELLAR HYPOPLASIA to Pontocerebellar hypoplasia, type 7, OMIM:614969; Pontocerebellar hypoplasia type 7, MONDO:0013993
01 Feb 2021	Fetal anomalies v1.573	TRAIP	Catherine Snow Phenotypes for gene: TRAIP were changed from PRIMORDIAL DWARFISM to Seckel syndrome 9
01 Feb 2021	Fetal anomalies v1.569	STIL	Arina Puzriakova Phenotypes for gene: STIL were changed from MICROCEPHALY PRIMARY TYPE 7 to Microcephaly 7, primary, autosomal recessive, OMIM:612703; Microcephaly 7, primary, autosomal recessive, MONDO:0012989
01 Feb 2021	Fetal anomalies v1.566	SPARC	Arina Puzriakova Phenotypes for gene: SPARC were changed from OSTEOGENESIS IMPERFECTA, TYPE XVII to Osteogenesis imperfecta, type XVII, OMIM:616507; Osteogenesis imperfecta type 17, MONDO:0014672
01 Feb 2021	Fetal anomalies v1.561	SPARC	Arina Puzriakova Classified gene: SPARC as Amber List (moderate evidence)
01 Feb 2021	Fetal anomalies v1.561	SPARC	Arina Puzriakova Gene: sparc has been classified as Amber List (Moderate Evidence).
01 Feb 2021	Fetal anomalies v1.560	SPARC	Arina Puzriakova Tag for-review tag was added to gene: SPARC.
01 Feb 2021	Fetal anomalies v1.558	TBC1D32	Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). There are sufficient unrelated cases with a fetally-relevant phenotype and biallelic variants in TBC1D32 to promoted this gene to Green at the next GMS panel update (added 'for-review' tag)
01 Feb 2021	Fetal anomalies v1.524	RBM10	Arina Puzriakova Phenotypes for gene: RBM10 were changed from TARP SYNDROME to TARP syndrome, OMIM:311900; Tarp syndrome, MONDO:0010711
01 Feb 2021	Fetal anomalies v1.518	PRUNE1	Arina Puzriakova Phenotypes for gene: PRUNE1 were changed from PEHO Like condition to Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, OMIM:617481; Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies, MONDO:0060490
01 Feb 2021	Fetal anomalies v1.515	RPL10	Arina Puzriakova Phenotypes for gene: RPL10 were changed from Mental retardation, X-linked, syndromic, 35 to Mental retardation, X-linked, syndromic, 35, OMIM:300998; Intellectual disability, X-linked, syndromic, 35, MONDO:0030908
01 Feb 2021	Fetal anomalies v1.511	PYGM	Arina Puzriakova Phenotypes for gene: PYGM were changed from McArdle disease to McArdle disease, OMIM:232600; Glycogen storage disease V, MONDO:0009293
01 Feb 2021	Fetal anomalies v1.510	PRKAG2	Arina Puzriakova Phenotypes for gene: PRKAG2 were changed from Cardiomyopathy, hypertrophic 6; Glycogen storage disease of heart, lethal congenital to Cardiomyopathy, hypertrophic 6, OMIM:600858; Hypertrophic cardiomyopathy 6, MONDO:0010946; Glycogen storage disease of heart, lethal congenital, OMIM:261740; Lethal congenital glycogen storage disease of heart, MONDO:0009867
01 Feb 2021	Fetal anomalies v1.491	PITX1	Arina Puzriakova Phenotypes for gene: PITX1 were changed from CONGENITAL CLUBFOOT; HOMEOTIC ARM-TO-LEG TRANSFORMATION ASSOCIATED WITH GENOMIC REARRANGEMENTS AT THE PITX1 LOCUS to Clubfoot, congenital, with or without deficiency of long bones and/or mirror-image polydactyly, OMIM:119800; Clubfoot, MONDO:0007342; Liebenberg syndrome, OMIM:186550; Brachydactyly-elbow wrist dysplasia syndrome, MONDO:0008520
01 Feb 2021	Fetal anomalies v1.484	P4HB	Arina Puzriakova Phenotypes for gene: P4HB were changed from COLE-CARPENTER SYNDROME to Cole-Carpenter syndrome 1, OMIM:112240; Cole-Carpenter syndrome 1, MONDO:0007204
01 Feb 2021	Fetal anomalies v1.483	OSGEP	Arina Puzriakova Phenotypes for gene: OSGEP were changed from Nephrotic syndrome with primary microcephaly to Galloway-Mowat syndrome 3, OMIM:617729; Galloway-Mowat syndrome 3, MONDO:0033007
01 Feb 2021	Fetal anomalies v1.477	NEDD4L	Arina Puzriakova Phenotypes for gene: NEDD4L were changed from Periventricular nodular heterotopia with ID, cleft palate and 2.3 toe syndactyly to Periventricular nodular heterotopia 7, OMIM:617201; Periventricular nodular heterotopia 7, MONDO:0014966
01 Feb 2021	Fetal anomalies v1.472	PIH1D3	Arina Puzriakova Phenotypes for gene: PIH1D3 were changed from Ciliary dyskinesia, primary, 36, X-linked to Ciliary dyskinesia, primary, 36, X-linked, OMIM:300991; Ciliary dyskinesia, primary, 36, X-linked, MONDO:0010517
01 Feb 2021	Fetal anomalies v1.463	PBX1	Arina Puzriakova Phenotypes for gene: PBX1 were changed from Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM:617641; Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, MONDO:0060549
01 Feb 2021	Fetal anomalies v1.453	NADSYN1	Arina Puzriakova Phenotypes for gene: NADSYN1 were changed from Vertebral, cardiac, renal, and limb defects syndrome 3 to Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845; Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077
01 Feb 2021	Fetal anomalies v1.446	MAP3K7	Arina Puzriakova Phenotypes for gene: MAP3K7 were changed from Cardiospondylocarpofacial syndrome; FRONTOMETAPHYSEAL DYSPLASIA to Cardiospondylocarpofacial syndrome, OMIM:157800; Cardiospondylocarpofacial syndrome, MONDO:0008005; Frontometaphyseal dysplasia 2, OMIM:617137; Frontometaphyseal dysplasia 2, MONDO:0014935
01 Feb 2021	Fetal anomalies v1.442	LAMB1	Arina Puzriakova Phenotypes for gene: LAMB1 were changed from COBBLESTONE BRAIN MALFORMATION WITHOUT MUSCULAR OR OCULAR ABNORMALITIES to Lissencephaly 5, OMIM:615191; Cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077
01 Feb 2021	Fetal anomalies v1.440	KLHL7	Arina Puzriakova Phenotypes for gene: KLHL7 were changed from Cold-induced sweating syndrome type 1 (CISS1-like Phenotype Associated with Early-Onset Retinitis Pigmentosa to PERCHING syndrome, OMIM:617055; PERCHING syndrome, MONDO:0014890
01 Feb 2021	Fetal anomalies v1.435	HESX1	Arina Puzriakova Phenotypes for gene: HESX1 were changed from HESX1-RELATED COMBINED PITUITARY HORMONE DEFICIENCY; SEPTOOPTIC DYSPLASIA to Septooptic dysplasia, OMIM:182230; Septooptic dysplasia, MONDO:0008428
01 Feb 2021	Fetal anomalies v1.425	GZF1	Arina Puzriakova Phenotypes for gene: GZF1 were changed from LARSEN SYNDROME to Joint laxity, short stature, and myopia, OMIM:617662; Joint laxity, short stature, and myopia, MONDO:0060556
01 Feb 2021	Fetal anomalies v1.422	GMNN	Arina Puzriakova Phenotypes for gene: GMNN were changed from Autosomal-Dominant Primordial Dwarfism Associated with Meier-Gorlin Syndrome to Meier-Gorlin syndrome 6, OMIM:616835; Meier-Gorlin syndrome 6, MONDO:0014794
01 Feb 2021	Fetal anomalies v1.418	GSC	Arina Puzriakova Phenotypes for gene: GSC were changed from Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities to Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities, OMIM:602471; Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome, MONDO:0011227
01 Feb 2021	Fetal anomalies v1.414	GFPT1	Arina Puzriakova Phenotypes for gene: GFPT1 were changed from Myasthenia, congenital, 12, with tubular aggregates to Myasthenia, congenital, 12, with tubular aggregates, OMIM:610542; Congenital myasthenic syndrome 12, MONDO:0012518
01 Feb 2021	Fetal anomalies v1.413	GATA3	Arina Puzriakova Phenotypes for gene: GATA3 were changed from Hypoparathyroidism, sensorineural deafness, and renal dysplasia to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM:146255; Hypoparathyroidism-deafness-renal disease syndrome, MONDO:0007797
01 Feb 2021	Fetal anomalies v1.389	FIG4	Arina Puzriakova Phenotypes for gene: FIG4 were changed from CLEIDOCRANIAL DYSPLASIA WITH MICROGNATHIA, ABSENT THUMBS, AND DISTAL APHALANGIA YUNIS-VARON SYNDROME; CHARCOT-MARIE-TOOTH DISEASE, TYPE 4J to Yunis-Varon syndrome, OMIM:216340; Yunis-Varon syndrome, MONDO:0008995; Charcot-Marie-Tooth disease, type 4J, OMIM:611228; Charcot-Marie-Tooth disease type 4J, MONDO:0012640; ?Polymicrogyria, bilateral temporooccipital, OMIM:612691; Bilateral parasagittal parieto-occipital polymicrogyria, MONDO:0012986
01 Feb 2021	Fetal anomalies v1.380	DPM3	Arina Puzriakova Phenotypes for gene: DPM3 were changed from CONGENITAL DISORDER OF GLYCOSYLATION TYPE 1O to ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, 618992; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937
01 Feb 2021	Fetal anomalies v1.376	DNAAF5	Arina Puzriakova Phenotypes for gene: DNAAF5 were changed from CILIARY DYSKINESIA, PRIMARY, 18 to Ciliary dyskinesia, primary, 18, OMIM:614874; Primary ciliary dyskinesia 18, MONDO:0013940
01 Feb 2021	Fetal anomalies v1.351	CLP1	Arina Puzriakova Phenotypes for gene: CLP1 were changed from PONTOCEREBELLAR HYPOPLASIA, TYPE 10 to Pontocerebellar hypoplasia, type 10, OMIM:615803; Pontocerebellar hypoplasia type 10, MONDO:0014349
01 Feb 2021	Fetal anomalies v1.350	CIT	Arina Puzriakova Phenotypes for gene: CIT were changed from PRIMARY MICROCEPHALY to Microcephaly 17, primary, autosomal recessive, OMIM:617090; Microcephaly 17, primary, autosomal recessive, MONDO:0014908
01 Feb 2021	Fetal anomalies v1.346	CHMP1A	Arina Puzriakova Phenotypes for gene: CHMP1A were changed from PONTOCEREBELLAR HYPOPLASIA AND MICROCEPHALY to Pontocerebellar hypoplasia, type 8, OMIM:614961; Pontocerebellar hypoplasia type 8, MONDO:0013990
01 Feb 2021	Fetal anomalies v1.340	CEP135	Arina Puzriakova Phenotypes for gene: CEP135 were changed from PRIMARY MICROCEPHALY AND DISTURBED CENTROSOMAL FUNCTION to Microcephaly 8, primary, autosomal recessive, OMIM:614673; Microcephaly 8, primary, autosomal recessive, MONDO:0013849
01 Feb 2021	Fetal anomalies v1.338	CDK5RAP2	Arina Puzriakova Phenotypes for gene: CDK5RAP2 were changed from PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY to Microcephaly 3, primary, autosomal recessive, OMIM:604804; Microcephaly 3, primary, autosomal recessive, MONDO:0011488
01 Feb 2021	Fetal anomalies v1.332	CCDC151	Arina Puzriakova Phenotypes for gene: CCDC151 were changed from PRIMARY CILLARY DYSKINEASIA to Ciliary dyskinesia, primary, 30, OMIM:616037; Primary ciliary dyskinesia 30, MONDO:0014465
01 Feb 2021	Fetal anomalies v1.328	C21orf59	Arina Puzriakova Phenotypes for gene: C21orf59 were changed from PRIMARY CILIARY DYSKINESIA to Ciliary dyskinesia, primary, 26, OMIM:615500; Primary ciliary dyskinesia 26, MONDO:0014211
01 Feb 2021	Fetal anomalies v1.326	B3GALNT2	Arina Puzriakova Phenotypes for gene: B3GALNT2 were changed from MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 11 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, OMIM:615181; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type a, 11, MONDO:0014071
01 Feb 2021	Fetal anomalies v1.322	ARFGEF2	Arina Puzriakova Phenotypes for gene: ARFGEF2 were changed from PERIVENTRICULAR HETEROTOPIA WITH MICROCEPHALY to Periventricular heterotopia with microcephaly, OMIM:608097
01 Feb 2021	Fetal anomalies v1.321	ARFGEF2	Arina Puzriakova Classified gene: ARFGEF2 as Amber List (moderate evidence)
01 Feb 2021	Fetal anomalies v1.321	ARFGEF2	Arina Puzriakova Gene: arfgef2 has been classified as Amber List (Moderate Evidence).
01 Feb 2021	Fetal anomalies v1.320	ARFGEF2	Arina Puzriakova Tag for-review tag was added to gene: ARFGEF2.
01 Feb 2021	Fetal anomalies v1.300	ARHGAP29	Arina Puzriakova Classified gene: ARHGAP29 as Amber List (moderate evidence)
01 Feb 2021	Fetal anomalies v1.300	ARHGAP29	Arina Puzriakova Gene: arhgap29 has been classified as Amber List (Moderate Evidence).
01 Feb 2021	Fetal anomalies v1.299	ARHGAP29	Arina Puzriakova Tag for-review tag was added to gene: ARHGAP29.
01 Feb 2021	Fetal anomalies v1.293	ABL1	Arina Puzriakova Phenotypes for gene: ABL1 were changed from Congenital heart defects and skeletal malformations to Congenital heart defects and skeletal malformations, OMIM:617602; Congenital heart defects and skeletal malformations syndrome, MONDO:0060532
29 Jan 2021	Fetal anomalies v1.277	MYMK	Arina Puzriakova Phenotypes for gene: MYMK were changed from Carey-Fineman-Ziter syndrome to Carey-Fineman-Ziter syndrome, OMIM:254940; Carey-Fineman-Ziter syndrome, MONDO:0009700
29 Jan 2021	Fetal anomalies v1.272	MYH7	Arina Puzriakova Phenotypes for gene: MYH7 were changed from Cardiomyopathy, dilated, 1S; Cardiomyopathy, hypertrophic, 1; Laing distal myopathy; Left ventricular noncompaction 5 to Laing distal myopathy, OMIM:160500; Laing early-onset distal myopathy, MONDO:0008050; Cardiomyopathy, hypertrophic, 1, OMIM:192600; Hypertrophic cardiomyopathy 1, MONDO:0008647; Cardiomyopathy, dilated, 1S, OMIM:613426; Dilated cardiomyopathy 1S, MONDO:0013262; Left ventricular noncompaction 5, OMIM:613426
29 Jan 2021	Fetal anomalies v1.264	MSTO1	Arina Puzriakova Phenotypes for gene: MSTO1 were changed from Myopathy, mitochondrial, and ataxia to Myopathy, mitochondrial, and ataxia, OMIM:617675; Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome, MONDO:0044714
29 Jan 2021	Fetal anomalies v1.261	MSMO1	Arina Puzriakova Phenotypes for gene: MSMO1 were changed from Microcephaly, congenital cataract, and psoriasiform dermatitis to Microcephaly, congenital cataract, and psoriasiform dermatitis, OMIM:616834; Microcephaly-congenital cataract-psoriasiform dermatitis syndrome, MONDO:0014793
29 Jan 2021	Fetal anomalies v1.253	MEIS2	Arina Puzriakova Phenotypes for gene: MEIS2 were changed from Cleft palate, cardiac defects, and mental retardation to Cleft palate, cardiac defects, and mental retardation, OMIM:600987; Cardiac malformation, cleft lip/palate, microcephaly, and digital anomalies, MONDO:0010970
29 Jan 2021	Fetal anomalies v1.249	MAP3K20	Arina Puzriakova Phenotypes for gene: MAP3K20 were changed from Split-foot malformation with mesoaxial polydactyly; Centronuclear myopathy 6 with fiber-type disproportion to Centronuclear myopathy 6 with fiber-type disproportion, OMIM:617760; Myopathy, centronuclear, 6, with fiber-type disproportion, MONDO:0054695; Split-foot malformation with mesoaxial polydactyly, OMIM:616890; Split-foot malformation-mesoaxial polydactyly syndrome, MONDO:0014816
29 Jan 2021	Fetal anomalies v1.243	LRRC56	Arina Puzriakova Phenotypes for gene: LRRC56 were changed from Ciliary dyskinesia, primary, 39 to Ciliary dyskinesia, primary, 39, OMIM:618254; Ciliary dyskinesia, primary, 39, MONDO:0032637
29 Jan 2021	Fetal anomalies v1.240	KNL1	Arina Puzriakova Phenotypes for gene: KNL1 were changed from Microcephaly 4, primary, autosomal recessive to Microcephaly 4, primary, autosomal recessive, OMIM:604321; Microcephaly 4, primary, autosomal recessive, MONDO:0011437
29 Jan 2021	Fetal anomalies v1.229	MYPN	Rhiannon Mellis gene: MYPN was added gene: MYPN was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MYPN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYPN were set to Nemaline myopathy 11, autosomal recessive, 617336 Review for gene: MYPN was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list
29 Jan 2021	Fetal anomalies v1.229	ALG2	Rhiannon Mellis reviewed gene: ALG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228, ?Congenital disorder of glycosylation, type Ii, 607906; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Jan 2021	Fetal anomalies v1.229	ALOX12B	Rhiannon Mellis gene: ALOX12B was added gene: ALOX12B was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALOX12B were set to Ichthyosis, congenital, autosomal recessive 2, 242100 Review for gene: ALOX12B was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Autosomal recessive congenital ichthyosis Sources: Expert list
29 Jan 2021	Fetal anomalies v1.229	ALOXE3	Rhiannon Mellis gene: ALOXE3 was added gene: ALOXE3 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive 3, 606545 Review for gene: ALOXE3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Autosomal recessive congenital ichthyosis Sources: Expert list
29 Jan 2021	Fetal anomalies v1.229	AMACR	Rhiannon Mellis gene: AMACR was added gene: AMACR was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AMACR were set to Alpha-methylacyl-CoA racemase deficiency, 614307 Review for gene: AMACR was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Peroxisomal disorders Sources: Expert list
29 Jan 2021	Fetal anomalies v1.229	AMMECR1	Rhiannon Mellis gene: AMMECR1 was added gene: AMMECR1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: AMMECR1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AMMECR1 were set to Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, 300990 Review for gene: AMMECR1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): IUGR and IGF abnormalities Sources: Expert list
29 Jan 2021	Fetal anomalies v1.229	ANKS6	Rhiannon Mellis gene: ANKS6 was added gene: ANKS6 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ANKS6 were set to Nephronophthisis 16, 615382 Review for gene: ANKS6 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cystic renal disease (super panel); Rare multisystem ciliopathy Super panel Sources: Expert list
29 Jan 2021	Fetal anomalies v1.229	ARFGEF2	Rhiannon Mellis reviewed gene: ARFGEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Periventricular heterotopia with microcephaly, 608097; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Jan 2021	Fetal anomalies v1.229	ARHGAP29	Rhiannon Mellis gene: ARHGAP29 was added gene: ARHGAP29 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: ARHGAP29 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ARHGAP29 were set to cleft lip with or without cleft palate; Cleft palate Review for gene: ARHGAP29 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Clefting Sources: Expert list
29 Jan 2021	Fetal anomalies v1.229	B3GALNT2	Rhiannon Mellis reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23453667; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Jan 2021	Fetal anomalies v1.229	B4GAT1	Rhiannon Mellis gene: B4GAT1 was added gene: B4GAT1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: B4GAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B4GAT1 were set to PMID: 23877401; 23359570 Phenotypes for gene: B4GAT1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287 Review for gene: B4GAT1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis; Neuromuscular disorders Additional comment: Severe structural brain phenotype and dysplastic kidneys, reported onset in utero. PMID: 23877401; PMID: 23359570 Sources: Expert list
29 Jan 2021	Fetal anomalies v1.229	BNC2	Rhiannon Mellis gene: BNC2 was added gene: BNC2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: BNC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: BNC2 were set to Lower urinary tract obstruction, congenital, 618612 Review for gene: BNC2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): CAKUT Sources: Expert list
29 Jan 2021	Fetal anomalies v1.229	C21orf59	Rhiannon Mellis reviewed gene: C21orf59: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 26, 615500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Jan 2021	Fetal anomalies v1.229	CACNA1G	Rhiannon Mellis gene: CACNA1G was added gene: CACNA1G was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CACNA1G were set to Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits, 618087 Review for gene: CACNA1G was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cerebellar hypoplasia Sources: Expert list
29 Jan 2021	Fetal anomalies v1.229	CANT1	Rhiannon Mellis gene: CANT1 was added gene: CANT1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CANT1 were set to Epiphyseal dysplasia, multiple, 7, 617719; Desbuquois dysplasia 1, 251450 Review for gene: CANT1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Skeletal dysplasia Sources: Expert list
29 Jan 2021	Fetal anomalies v1.229	CASR	Rhiannon Mellis gene: CASR was added gene: CASR was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CASR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CASR were set to Hypocalcemia, autosomal dominant, 601198; Hypocalciuric hypercalcemia, type I, 145980; Hyperparathyroidism, neonatal, 239200; Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198 Review for gene: CASR was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia Sources: Expert list
29 Jan 2021	Fetal anomalies v1.229	CCDC151	Rhiannon Mellis reviewed gene: CCDC151: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 30, 616037; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Jan 2021	Fetal anomalies v1.229	CDK5RAP2	Rhiannon Mellis reviewed gene: CDK5RAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 3, primary, autosomal recessive, 604804; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Jan 2021	Fetal anomalies v1.229	CELSR1	Rhiannon Mellis gene: CELSR1 was added gene: CELSR1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CELSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CELSR1 were set to hereditary lymphedema Review for gene: CELSR1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Primary lymphoedema Sources: Expert list
29 Jan 2021	Fetal anomalies v1.229	CENPF	Rhiannon Mellis gene: CENPF was added gene: CENPF was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CENPF were set to PMID: 26820108; 25564561 Phenotypes for gene: CENPF were set to Stromme syndrome, 243605 Review for gene: CENPF was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cystic renal disease (super panel); Hydrocephalus; Limb disorders; Rare multisystem ciliopathy Super panel; Severe microcephaly Additional comment: Fetal phenotype (ciliopathy) reported in PMID: 26820108 and PMID: 25564561 Sources: Expert list
29 Jan 2021	Fetal anomalies v1.229	CEP135	Rhiannon Mellis reviewed gene: CEP135: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 8, primary, autosomal recessive, 614673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Jan 2021	Fetal anomalies v1.229	CEP55	Rhiannon Mellis reviewed gene: CEP55: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Jan 2021	Fetal anomalies v1.229	CERS3	Rhiannon Mellis gene: CERS3 was added gene: CERS3 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CERS3 were set to Ichthyosis, congenital, autosomal recessive 9, 615023 Review for gene: CERS3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Autosomal recessive congenital ichthyosis Sources: Expert list
29 Jan 2021	Fetal anomalies v1.229	CHMP1A	Rhiannon Mellis reviewed gene: CHMP1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 8, 614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Jan 2021	Fetal anomalies v1.229	CHRNA3	Rhiannon Mellis gene: CHRNA3 was added gene: CHRNA3 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CHRNA3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CHRNA3 were set to Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, 191800 Review for gene: CHRNA3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): CAKUT Sources: Expert list
29 Jan 2021	Fetal anomalies v1.229	CHRNB1	Rhiannon Mellis gene: CHRNB1 was added gene: CHRNB1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CHRNB1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CHRNB1 were set to Myasthenic syndrome, congenital, 2A, slow-channel, 616313; ?Myasthenic syndrome, congenital, 2C, associated with acetylcholine receptor deficiency, 616314 Review for gene: CHRNB1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis; Neuromuscular disorders Sources: Expert list
29 Jan 2021	Fetal anomalies v1.229	CHRNE	Rhiannon Mellis gene: CHRNE was added gene: CHRNE was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CHRNE was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4A, slow-channel, 605809; Myasthenic syndrome, congenital, 4B, fast-channel, 616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency, 608931 Review for gene: CHRNE was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis; Neuromuscular disorders Additional comment: Phenotype on OMIM reported as including arthrogryposis multiplex in severe cases. Decreased fetal movements in some cases. Sources: Expert list
29 Jan 2021	Fetal anomalies v1.229	CIT	Rhiannon Mellis reviewed gene: CIT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Microcephaly 17, primary, autosomal recessive, 617090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Jan 2021	Fetal anomalies v1.229	CLP1	Rhiannon Mellis reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 10, 615803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Jan 2021	Fetal anomalies v1.229	CNBP	Rhiannon Mellis gene: CNBP was added gene: CNBP was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CNBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CNBP were set to Myotonic dystrophy 2, 602668 Review for gene: CNBP was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list
29 Jan 2021	Fetal anomalies v1.229	COG6	Rhiannon Mellis gene: COG6 was added gene: COG6 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: COG6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COG6 were set to Congenital disorder of glycosylation, type IIl, 614576; Shaheen syndrome, 615328 Review for gene: COG6 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Congenital disorders of glycosylation Sources: Expert list
29 Jan 2021	Fetal anomalies v1.228	COL12A1	Rhiannon Mellis gene: COL12A1 was added gene: COL12A1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: COL12A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: COL12A1 were set to Bethlem myopathy 2, 616471; ?Ullrich congenital muscular dystrophy 2, 616470 Review for gene: COL12A1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis Additional comment: At least three affected families with Bethlem myopathy which is associated with early contractures (?congenital) as well as two brothers with Ulrich congenital muscular dystrophy which is associated with arthrogryposis Sources: Expert list
29 Jan 2021	Fetal anomalies v1.228	COLQ	Rhiannon Mellis gene: COLQ was added gene: COLQ was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COLQ were set to PMID: 9689136; 11865139 Phenotypes for gene: COLQ were set to Myasthenic syndrome, congenital, 5, 603034 Review for gene: COLQ was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis Additional comment: I can’t see any reported cases specifically with arthrogryposis, but some cases presented at birth with hypotonia/weakness/fatigability. PMID: 9689136; 11865139. Therefore included on basis of severe neonatal phenotype that may conceivably also present prenatally. Sources: Expert list
29 Jan 2021	Fetal anomalies v1.228	CREB3L1	Rhiannon Mellis gene: CREB3L1 was added gene: CREB3L1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CREB3L1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CREB3L1 were set to Osteogenesis imperfecta, type XVI, 616229 Review for gene: CREB3L1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia Sources: Expert list
29 Jan 2021	Fetal anomalies v1.228	CRIPT	Rhiannon Mellis gene: CRIPT was added gene: CRIPT was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CRIPT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CRIPT were set to Short stature with microcephaly and distinctive facies, 615789 Review for gene: CRIPT was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): IUGR and IGF abnormalities Sources: Expert list
29 Jan 2021	Fetal anomalies v1.228	CTU2	Rhiannon Mellis gene: CTU2 was added gene: CTU2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CTU2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CTU2 were set to Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 Review for gene: CTU2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): CAKUT Sources: Expert list
29 Jan 2021	Fetal anomalies v1.228	CYP26B1	Rhiannon Mellis gene: CYP26B1 was added gene: CYP26B1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CYP26B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP26B1 were set to Craniosynostosis with radiohumeral fusions and other skeletal and craniofacial anomalies, 614416 Review for gene: CYP26B1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Craniosynostosis Sources: Expert list
29 Jan 2021	Fetal anomalies v1.228	CYP4F22	Rhiannon Mellis gene: CYP4F22 was added gene: CYP4F22 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: CYP4F22 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CYP4F22 were set to Ichthyosis, congenital, autosomal recessive 5, 604777 Review for gene: CYP4F22 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Autosomal recessive congenital ichthyosis Sources: Expert list
29 Jan 2021	Fetal anomalies v1.226	DIAPH1	Rhiannon Mellis gene: DIAPH1 was added gene: DIAPH1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DIAPH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DIAPH1 were set to Seizures, cortical blindness, microcephaly syndrome, 616632 Review for gene: DIAPH1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Severe microcephaly Sources: Expert list
29 Jan 2021	Fetal anomalies v1.226	DISP1	Rhiannon Mellis gene: DISP1 was added gene: DISP1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DISP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: DISP1 were set to 27363716 Phenotypes for gene: DISP1 were set to Holoprosencephaly Review for gene: DISP1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cerebral malformations; Holoprosencephaly Sources: Expert list
29 Jan 2021	Fetal anomalies v1.225	DLX5	Rhiannon Mellis gene: DLX5 was added gene: DLX5 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DLX5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DLX5 were set to ?Split-hand/foot malformation 1 with sensorineural hearing loss, 220600; Split-hand/foot malformation 1, 183600 Review for gene: DLX5 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Limb disorders; Skeletal dysplasia Sources: Expert list
29 Jan 2021	Fetal anomalies v1.225	DNAAF2	Rhiannon Mellis gene: DNAAF2 was added gene: DNAAF2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DNAAF2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAAF2 were set to Ciliary dyskinesia, primary, 10, 612518 Review for gene: DNAAF2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Primary ciliary disorders Sources: Expert list
29 Jan 2021	Fetal anomalies v1.225	DNAAF5	Rhiannon Mellis reviewed gene: DNAAF5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 18,614874; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Jan 2021	Fetal anomalies v1.225	DNAI2	Rhiannon Mellis gene: DNAI2 was added gene: DNAI2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DNAI2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAI2 were set to Ciliary dyskinesia, primary, 9, with or without situs inversus,612444 Review for gene: DNAI2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Laterality disorders and isomerism; Primary ciliary disorders Sources: Expert list
29 Jan 2021	Fetal anomalies v1.225	DNAJB11	Rhiannon Mellis gene: DNAJB11 was added gene: DNAJB11 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DNAJB11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: DNAJB11 were set to Polycystic kidney disease 6 with or without polycystic liver disease, 618061 Review for gene: DNAJB11 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cystic renal disease (super panel); Polycystic liver disease Sources: Expert list
29 Jan 2021	Fetal anomalies v1.225	DNAL1	Rhiannon Mellis gene: DNAL1 was added gene: DNAL1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DNAL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAL1 were set to Ciliary dyskinesia, primary, 16, 614017 Review for gene: DNAL1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Primary ciliary disorders Additional comment: causes situs inversus Sources: Expert list
29 Jan 2021	Fetal anomalies v1.225	DNM1L	Rhiannon Mellis gene: DNM1L was added gene: DNM1L was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DNM1L was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: DNM1L were set to Encephalopathy, lethal, due to defective mitochondrial peroxisomal fission 1, 614388 Review for gene: DNM1L was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Peroxisomal disorders Sources: Expert list
29 Jan 2021	Fetal anomalies v1.219	GDF2	Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Single family with 2 sibs affected by lymphatic dysplasia, hydrothorax and nonimmune hydrops fetalis. Homozygous truncating variant in GDF2 was detected which segregated with the disorder (PMID:32618121). Rating Red as additional cases/functional evidence required to corroborate this gene-disease association.
29 Jan 2021	Fetal anomalies v1.215	DNM2	Rhiannon Mellis gene: DNM2 was added gene: DNM2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DNM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Publications for gene: DNM2 were set to PMID: 30208955 Phenotypes for gene: DNM2 were set to Lethal congenital contracture syndrome 5, 615368 Review for gene: DNM2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis Additional comment: AR Phenotype = lethal congenital contracture syndrome – definite prenatal phenotype with arthrogryposis, decreased fetal movements, polyhydramnios. Mutations only identified in three siblings although supported by animal models --> Moderate evidence for arthrogryposis --> Made green on arthrogryposis panel after internal discussion (Jan 2017) NB in 2018 a further report of 3 unrelated cases with heterozygous DNM2 pathogenic variants with a more severe phenotype than usual for the AD disease (centronuclear myopathy) – all 3 had severe hypotonia and respiratory distress from birth. 1 had reduced fetal movements, polyhydramnios, distal contractures at birth (born at 29/40). 1 had micrognathia and clenched fists prenatally, multiple contractures at birth. All 3 were ventilator-dependent and died within first few months of life. (i.e. some overlap with the lethal congenital contracture phenotype despite heterozygous variants). PMID: 30208955 Sources: Expert list
29 Jan 2021	Fetal anomalies v1.215	DONSON	Rhiannon Mellis gene: DONSON was added gene: DONSON was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DONSON was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DONSON were set to Microcephaly-micromelia syndrome, 251230; Microcephaly, short stature, and limb abnormalities, 617604 Review for gene: DONSON was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Severe microcephaly Sources: Expert list
29 Jan 2021	Fetal anomalies v1.215	DPM2	Rhiannon Mellis gene: DPM2 was added gene: DPM2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DPM2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DPM2 were set to Congenital disorder of glycosylation, type Iu, 615042 Review for gene: DPM2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list
29 Jan 2021	Fetal anomalies v1.215	DPM3	Rhiannon Mellis reviewed gene: DPM3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ?Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 15, 618992, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 15, 612937; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Jan 2021	Fetal anomalies v1.215	DYNC2LI1	Rhiannon Mellis gene: DYNC2LI1 was added gene: DYNC2LI1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DYNC2LI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DYNC2LI1 were set to Short-rib thoracic dysplasia 15 with polydactyly, 617088 Review for gene: DYNC2LI1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Clefting; Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies Sources: Expert list
29 Jan 2021	Fetal anomalies v1.215	DZIP1L	Rhiannon Mellis gene: DZIP1L was added gene: DZIP1L was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: DZIP1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DZIP1L were set to Polycystic kidney disease 5, 617610 Review for gene: DZIP1L was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cystic renal disease (super panel) Sources: Expert list
29 Jan 2021	Fetal anomalies v1.215	EML1	Rhiannon Mellis gene: EML1 was added gene: EML1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: EML1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: EML1 were set to Band heterotopia, 600348 Review for gene: EML1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Hydrocephalus Sources: Expert list
29 Jan 2021	Fetal anomalies v1.215	EMX2	Rhiannon Mellis gene: EMX2 was added gene: EMX2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: EMX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: EMX2 were set to Schizencephaly, 269160 Review for gene: EMX2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cerebral malformations; Malformations of cortical development Sources: Expert list
29 Jan 2021	Fetal anomalies v1.215	FAM46A	Rhiannon Mellis gene: FAM46A was added gene: FAM46A was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: FAM46A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FAM46A were set to Osteogenesis imperfecta, type XVIII Review for gene: FAM46A was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia Sources: Expert list
29 Jan 2021	Fetal anomalies v1.215	FIG4	Rhiannon Mellis reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Yunis-Varon syndrome, Charcot-Marie-Tooth disease, type 4J, ?Polymicrogyria, bilateral temporooccipital; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Jan 2021	Fetal anomalies v1.215	FKBP10	Rhiannon Mellis gene: FKBP10 was added gene: FKBP10 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: FKBP10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKBP10 were set to Bruck syndrome 1; Osteogenesis imperfecta, type XI Review for gene: FKBP10 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis; Osteogenesis imperfecta; Skeletal dysplasia Sources: Expert list
29 Jan 2021	Fetal anomalies v1.215	FUT8	Rhiannon Mellis gene: FUT8 was added gene: FUT8 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: FUT8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FUT8 were set to Congenital disorder of glycosylation with defective fucosylation 1 Review for gene: FUT8 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Congenital disorders of glycosylation Sources: Expert list
29 Jan 2021	Fetal anomalies v1.215	FZD2	Rhiannon Mellis gene: FZD2 was added gene: FZD2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: FZD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: FZD2 were set to Omodysplasia 2 Review for gene: FZD2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Limb disorders; Skeletal dysplasia Sources: Expert list
29 Jan 2021	Fetal anomalies v1.215	GALNT2	Rhiannon Mellis gene: GALNT2 was added gene: GALNT2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GALNT2 were set to Congenital disorder of glycosylation, type IIt Review for gene: GALNT2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Congenital disorders of glycosylation Sources: Expert list
29 Jan 2021	Fetal anomalies v1.215	GANAB	Rhiannon Mellis gene: GANAB was added gene: GANAB was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: GANAB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GANAB were set to Polycystic kidney disease 3 Review for gene: GANAB was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cystic renal disease (super panel); Polycystic liver disease Sources: Expert list
29 Jan 2021	Fetal anomalies v1.215	GATA3	Rhiannon Mellis gene: GATA3 was added gene: GATA3 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia Review for gene: GATA3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): CAKUT Sources: Expert list
29 Jan 2021	Fetal anomalies v1.215	GFPT1	Rhiannon Mellis gene: GFPT1 was added gene: GFPT1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Congenital disorders of glycosylation Sources: Expert list
29 Jan 2021	Fetal anomalies v1.215	GFRA1	Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Two unrelated families with non-syndromic bilateral renal agenesis, detected during the prenatal period, and distinct homozygous LoF variants in GFRA1. Animal models support a role in renal morphogenesis (PMID:33020172). Rating Amber awaiting further cases/clinical evidence prior to inclusion as diagnositc-grade.
29 Jan 2021	Fetal anomalies v1.214	GLI1	Rhiannon Mellis gene: GLI1 was added gene: GLI1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: GLI1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GLI1 were set to Polydactyly, postaxial, type A8 618123; Polydactyly, preaxial I 174400 Review for gene: GLI1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Limb disorders Sources: Expert list
29 Jan 2021	Fetal anomalies v1.214	GREB1L	Rhiannon Mellis changed review comment from: Further cases of renal agenesis with GREBL1 pathogenic variants reported by Herlin et al, 2019 and Jacquinet et al 2020 (see below). However I note this gene has recently been changed from Green to Amber at NHSE request. PMID: 31424080: One family including a preterm infant with bilateral renal agenesis and Potters sequence. PMID: 32378186: Four families including fetuses with uterovaginal aplasia and bilateral renal agenesis.; to: Further cases of renal agenesis with GREBL1 pathogenic variants reported by Herlin et al, 2019 and Jacquinet et al 2020 (see below). PMID: 31424080: One family including a preterm infant with bilateral renal agenesis and Potters sequence. PMID: 32378186: Four families including fetuses with uterovaginal aplasia and bilateral renal agenesis.
29 Jan 2021	Fetal anomalies v1.214	GSC	Rhiannon Mellis gene: GSC was added gene: GSC was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: GSC was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: GSC were set to Short stature, auditory canal atresia, mandibular hypoplasia, skeletal abnormalities Review for gene: GSC was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Skeletal dysplasia Sources: Expert list
29 Jan 2021	Fetal anomalies v1.214	HADHB	Rhiannon Mellis gene: HADHB was added gene: HADHB was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADHB were set to Trifunctional protein deficiency Review for gene: HADHB was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Additional comment: Different clinical forms, including rapidly progressive neonatal onset with early death - associated with hydrops prenatally Sources: Expert list
28 Jan 2021	Fetal anomalies v1.214	HMGA2	Rhiannon Mellis gene: HMGA2 was added gene: HMGA2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: HMGA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: HMGA2 were set to Silver-Russell syndrome 5 Review for gene: HMGA2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Silver Russell syndrome Sources: Expert list
28 Jan 2021	Fetal anomalies v1.214	ICK	Rhiannon Mellis gene: ICK was added gene: ICK was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ICK were set to Endocrine-cerebroosteodysplasia Review for gene: ICK was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Clefting; Cystic renal disease (super panel); Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies Sources: Expert list
28 Jan 2021	Fetal anomalies v1.214	IDH1	Rhiannon Mellis gene: IDH1 was added gene: IDH1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: IDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: IDH1 were set to 22025298; 22057236; 22057234; 24049096 Phenotypes for gene: IDH1 were set to Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 614875; Maffucci syndrome 614569; Ollier disease/ Dyschondroplasia 166000 Review for gene: IDH1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Skeletal dysplasia Copied from skeletal dysplasias panel: Lysosomal storage diseases with skeletal involvement (dysostosis multiplex gp of SD), disorganized development of skeletal components gp of SD - Somatic mosaicism seen in at least 3 cases with enchondromatosis (various types)/ metaphyseal chondromatosis. amber/green -Somatic mosaic missense variants in enchondromas. Listed in Bonafe (MetaphysealchondromatosiswithD-2-hydroxyglutaric aciduria). Sources: Expert list
28 Jan 2021	Fetal anomalies v1.214	IFT52	Rhiannon Mellis gene: IFT52 was added gene: IFT52 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: IFT52 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT52 were set to Short-rib thoracic dysplasia 16 with or without polydactyly Review for gene: IFT52 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies Sources: Expert list
28 Jan 2021	Fetal anomalies v1.214	IFT81	Rhiannon Mellis gene: IFT81 was added gene: IFT81 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: IFT81 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: IFT81 were set to Short-rib thoracic dysplasia 19 with or without polydactyly Review for gene: IFT81 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies Sources: Expert list
28 Jan 2021	Fetal anomalies v1.214	KATNB1	Rhiannon Mellis gene: KATNB1 was added gene: KATNB1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly Review for gene: KATNB1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cerebral malformations; Malformations of cortical development Sources: Expert list
28 Jan 2021	Fetal anomalies v1.214	KIAA0753	Rhiannon Mellis gene: KIAA0753 was added gene: KIAA0753 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KIAA0753 were set to ?Orofaciodigital syndrome XV Review for gene: KIAA0753 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cystic renal disease (super panel); Rare multisystem ciliopathy Super panel; Skeletal dysplasia Sources: Expert list
28 Jan 2021	Fetal anomalies v1.214	KNL1	Rhiannon Mellis gene: KNL1 was added gene: KNL1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: KNL1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: KNL1 were set to Microcephaly 4, primary, autosomal recessive Review for gene: KNL1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Severe microcephaly Sources: Expert list
28 Jan 2021	Fetal anomalies v1.214	LRRC56	Rhiannon Mellis gene: LRRC56 was added gene: LRRC56 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: LRRC56 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: LRRC56 were set to Ciliary dyskinesia, primary, 39 Review for gene: LRRC56 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Laterality disorders and isomerism Sources: Expert list
28 Jan 2021	Fetal anomalies v1.214	MACF1	Rhiannon Mellis gene: MACF1 was added gene: MACF1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MACF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MACF1 were set to Lissencephaly 9 with complex brainstem malformation Review for gene: MACF1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Cerebellar hypoplasia; Cerebral malformations; Malformations of cortical development Sources: Expert list
28 Jan 2021	Fetal anomalies v1.214	MAP3K20	Rhiannon Mellis gene: MAP3K20 was added gene: MAP3K20 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MAP3K20 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MAP3K20 were set to Split-foot malformation with mesoaxial polydactyly; Centronuclear myopathy 6 with fiber-type disproportion Review for gene: MAP3K20 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list
28 Jan 2021	Fetal anomalies v1.214	MAP3K7	Rhiannon Mellis reviewed gene: MAP3K7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontometaphyseal dysplasia 2, Cardiospondylocarpofacial syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
28 Jan 2021	Fetal anomalies v1.214	MEIS2	Rhiannon Mellis gene: MEIS2 was added gene: MEIS2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MEIS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MEIS2 were set to Cleft palate, cardiac defects, and mental retardation Review for gene: MEIS2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Clefting Sources: Expert list
28 Jan 2021	Fetal anomalies v1.214	MESD	Rhiannon Mellis gene: MESD was added gene: MESD was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX Review for gene: MESD was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Osteogenesis imperfecta Sources: Expert list
28 Jan 2021	Fetal anomalies v1.214	MRAS	Rhiannon Mellis gene: MRAS was added gene: MRAS was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MRAS were set to Noonan syndrome 11 Review for gene: MRAS was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): RASopathies Sources: Expert list
28 Jan 2021	Fetal anomalies v1.214	MSMO1	Rhiannon Mellis gene: MSMO1 was added gene: MSMO1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MSMO1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MSMO1 were set to Microcephaly, congenital cataract, and psoriasiform dermatitis Review for gene: MSMO1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Severe microcephaly Sources: Expert list
28 Jan 2021	Fetal anomalies v1.214	MSTO1	Rhiannon Mellis gene: MSTO1 was added gene: MSTO1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MSTO1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: MSTO1 were set to Myopathy, mitochondrial, and ataxia Review for gene: MSTO1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list
28 Jan 2021	Fetal anomalies v1.214	MYH2	Rhiannon Mellis gene: MYH2 was added gene: MYH2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MYH2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYH2 were set to Proximal myopathy and ophthalmoplegia Review for gene: MYH2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis; Neuromuscular disorders Additional comments: Congenital contractures in some which improve with time - Contractures at birth are described (in some cases) so could be detected prenatally. Sources: Expert list
28 Jan 2021	Fetal anomalies v1.214	MYH7	Rhiannon Mellis gene: MYH7 was added gene: MYH7 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MYH7 were set to PMID: 22859017; 25547560; 26337809 Phenotypes for gene: MYH7 were set to Cardiomyopathy, dilated, 1S; Cardiomyopathy, hypertrophic, 1; Laing distal myopathy; Left ventricular noncompaction 5 Review for gene: MYH7 was set to GREEN Added comment: Currently Green on arthrogryposis panel but no clear association with arthrogryposis in literature, it seems to be a more a slowly progressive myopathy phenotype. However, there are four reported cases of fetal cardiomyopathy related to MYH7, detectable on ultrasound. PMID: 22859017, PMID: 25547560, PMID: 26337809 Sources: Literature
28 Jan 2021	Fetal anomalies v1.214	MYL1	Rhiannon Mellis gene: MYL1 was added gene: MYL1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MYL1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MYL1 were set to PMID: 30215711 Phenotypes for gene: MYL1 were set to Myopathy, congenital, with fast-twitch (type II) fiber atrophy Review for gene: MYL1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis; Neuromuscular disorders Additional comment: Predominant phenotype is severe hypotonia and respiratory failure from birth. 2 patients are reported: one had polyhydramnios and normal fetal movements, with mild flexion contractures at birth. The other had normal liquor volume, reduced fetal movements, no contractures. (PMID: 30215711). But severe neonatal phenotype so include as relevant. Sources: Expert list
28 Jan 2021	Fetal anomalies v1.214	MYMK	Rhiannon Mellis gene: MYMK was added gene: MYMK was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MYMK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYMK were set to Carey-Fineman-Ziter syndrome Review for gene: MYMK was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis; Clefting; Hydrocephalus; Neuromuscular disorders Additional comment: Phenotype includes congenital contractures, talipes, Pierre-Robin sequence, clefts, reduced fetal movements. Sources: Expert list
28 Jan 2021	Fetal anomalies v1.214	MYO18B	Rhiannon Mellis gene: MYO18B was added gene: MYO18B was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MYO18B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO18B were set to Klippel-Feil syndrome 4, autosomal recessive, with myopathy and facial dysmorphism Review for gene: MYO18B was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list
28 Jan 2021	Fetal anomalies v1.214	MYO9A	Rhiannon Mellis gene: MYO9A was added gene: MYO9A was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MYO9A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MYO9A were set to Myasthenic syndrome, congenital, 24, presynaptic Review for gene: MYO9A was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list
28 Jan 2021	Fetal anomalies v1.214	MYOCD	Rhiannon Mellis gene: MYOCD was added gene: MYOCD was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: MYOCD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MYOCD were set to Megabladder, congenital Review for gene: MYOCD was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): CAKUT Sources: Expert list
28 Jan 2021	Fetal anomalies v1.214	NADSYN1	Rhiannon Mellis gene: NADSYN1 was added gene: NADSYN1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: NADSYN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NADSYN1 were set to Vertebral, cardiac, renal, and limb defects syndrome 3 Review for gene: NADSYN1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): CAKUT Sources: Expert list
28 Jan 2021	Fetal anomalies v1.214	NECTIN1	Rhiannon Mellis gene: NECTIN1 was added gene: NECTIN1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NECTIN1 were set to Cleft lip/palate-ectodermal dysplasia syndrome; Orofacial cleft 7 Review for gene: NECTIN1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Clefting Sources: Expert list
28 Jan 2021	Fetal anomalies v1.214	NEDD4L	Rhiannon Mellis reviewed gene: NEDD4L: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Periventricular nodular heterotopia 7; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
28 Jan 2021	Fetal anomalies v1.214	TOR1A	Arina Puzriakova Phenotypes for gene: TOR1A were changed from Arthrogryposis multiplex congenita 5 to Arthrogryposis multiplex congenita 5, OMIM:618947; Arthrogryposis multiplex congenita 5, MONDO:0100218
28 Jan 2021	Fetal anomalies v1.213	NIPAL4	Rhiannon Mellis gene: NIPAL4 was added gene: NIPAL4 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NIPAL4 were set to Ichthyosis, congenital, autosomal recessive 6 Review for gene: NIPAL4 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Autosomal recessive congenital ichthyosis Sources: Expert list
28 Jan 2021	Fetal anomalies v1.213	NXN	Rhiannon Mellis gene: NXN was added gene: NXN was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: NXN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: NXN were set to Robinow syndrome, autosomal recessive 2 Review for gene: NXN was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Skeletal dysplasia Sources: Expert list
28 Jan 2021	Fetal anomalies v1.211	P4HB	Rhiannon Mellis reviewed gene: P4HB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cole-Carpenter syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
28 Jan 2021	Fetal anomalies v1.211	TNNT3	Arina Puzriakova Phenotypes for gene: TNNT3 were changed from Arthrogryposis, distal, type 2B2 to Arthrogryposis, distal, type 2B2, OMIM:618435; Arthrogryposis, distal, type 2B2, MONDO:0032750
28 Jan 2021	Fetal anomalies v1.209	PAX7	Rhiannon Mellis gene: PAX7 was added gene: PAX7 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PAX7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PAX7 were set to Myopathy, congenital, progressive, with scoliosis Review for gene: PAX7 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list
28 Jan 2021	Fetal anomalies v1.209	PBX1	Rhiannon Mellis gene: PBX1 was added gene: PBX1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PBX1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PBX1 were set to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay Review for gene: PBX1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): CAKUT Sources: Expert list
28 Jan 2021	Fetal anomalies v1.209	PFKM	Rhiannon Mellis gene: PFKM was added gene: PFKM was added to Fetal anomalies. Sources: Expert list,Literature Mode of inheritance for gene: PFKM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PFKM were set to Glycogen storage disease VII Review for gene: PFKM was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis; Neuromuscular disorders Additional comment: literature supports arthrogryposis in severe infantile form Sources: Expert list, Literature
28 Jan 2021	Fetal anomalies v1.209	PIBF1	Rhiannon Mellis gene: PIBF1 was added gene: PIBF1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIBF1 were set to Joubert syndrome 33 Review for gene: PIBF1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Rare multisystem ciliopathy Super panel Sources: Expert list
28 Jan 2021	Fetal anomalies v1.205	PIH1D3	Rhiannon Mellis changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Laterality disorders and isomerism; Primary ciliary disorders Sources: Expert list; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Laterality disorders and isomerism; Primary ciliary disorders Sources: Expert list Situs inversus in ~50%
28 Jan 2021	Fetal anomalies v1.205	PIH1D3	Rhiannon Mellis gene: PIH1D3 was added gene: PIH1D3 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PIH1D3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PIH1D3 were set to Ciliary dyskinesia, primary, 36, X-linked Review for gene: PIH1D3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Laterality disorders and isomerism; Primary ciliary disorders Sources: Expert list
28 Jan 2021	Fetal anomalies v1.205	PIK3C2A	Rhiannon Mellis gene: PIK3C2A was added gene: PIK3C2A was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PIK3C2A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PIK3C2A were set to Oculoskeletodental syndrome Review for gene: PIK3C2A was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Rare multisystem ciliopathy Super panel; Skeletal dysplasia Sources: Expert list
28 Jan 2021	Fetal anomalies v1.205	PLAG1	Rhiannon Mellis gene: PLAG1 was added gene: PLAG1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PLAG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PLAG1 were set to Silver-Russell syndrome 4 Review for gene: PLAG1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Silver Russell syndrome Sources: Expert list
28 Jan 2021	Fetal anomalies v1.205	PLG	Rhiannon Mellis gene: PLG was added gene: PLG was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PLG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PLG were set to Plasminogen deficiency, type I Review for gene: PLG was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Hydrocephalus Additional comment: structural features detectable prenatally = -Occlusive hydrocephalus, congenital; Dandy-Walker malformation; Cerebellar hypoplasia Sources: Expert list
28 Jan 2021	Fetal anomalies v1.205	POLG2	Rhiannon Mellis gene: POLG2 was added gene: POLG2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: POLG2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: POLG2 were set to Mitochondrial DNA depletion syndrome 16 (hepatic type); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 Review for gene: POLG2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list
28 Jan 2021	Fetal anomalies v1.205	POP1	Rhiannon Mellis gene: POP1 was added gene: POP1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: POP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: POP1 were set to Anauxetic dysplasia 2 Review for gene: POP1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Skeletal dysplasia Sources: Expert list
28 Jan 2021	Fetal anomalies v1.205	PRKAG2	Rhiannon Mellis gene: PRKAG2 was added gene: PRKAG2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: PRKAG2 were set to Cardiomyopathy, hypertrophic 6; Glycogen storage disease of heart, lethal congenital Review for gene: PRKAG2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list
28 Jan 2021	Fetal anomalies v1.203	PRUNE1	Rhiannon Mellis reviewed gene: PRUNE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Jan 2021	Fetal anomalies v1.202	PYGM	Rhiannon Mellis gene: PYGM was added gene: PYGM was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: PYGM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PYGM were set to McArdle disease Review for gene: PYGM was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list
28 Jan 2021	Fetal anomalies v1.201	RAB33B	Rhiannon Mellis gene: RAB33B was added gene: RAB33B was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: RAB33B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RAB33B were set to Smith-McCort dysplasia 2 Review for gene: RAB33B was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Skeletal dysplasia Sources: Expert list
28 Jan 2021	Fetal anomalies v1.201	RBBP8	Rhiannon Mellis gene: RBBP8 was added gene: RBBP8 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: RBBP8 were set to Seckel syndrome 2 Review for gene: RBBP8 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): IUGR and IGF abnormalities; Severe microcephaly Sources: Expert list
28 Jan 2021	Fetal anomalies v1.201	RBM10	Rhiannon Mellis reviewed gene: RBM10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: TARP syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
28 Jan 2021	Fetal anomalies v1.200	RPL10	Rhiannon Mellis gene: RPL10 was added gene: RPL10 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: RPL10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RPL10 were set to Mental retardation, X-linked, syndromic, 35 Review for gene: RPL10 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): IUGR and IGF abnormalities; Severe microcephaly Sources: Expert list
28 Jan 2021	Fetal anomalies v1.196	RPS7	Rhiannon Mellis gene: RPS7 was added gene: RPS7 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: RPS7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RPS7 were set to Diamond-Blackfan anemia 8 Review for gene: RPS7 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Limb disorders; Radial dysplasia Sources: Expert list
28 Jan 2021	Fetal anomalies v1.196	RRAS2	Rhiannon Mellis gene: RRAS2 was added gene: RRAS2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: RRAS2 were set to Noonan syndrome 12 Review for gene: RRAS2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): RASopathies Sources: Expert list
28 Jan 2021	Fetal anomalies v1.195	RSPH4A	Rhiannon Mellis reviewed gene: RSPH4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 11; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Jan 2021	Fetal anomalies v1.195	RSPH9	Rhiannon Mellis reviewed gene: RSPH9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 12; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Jan 2021	Fetal anomalies v1.195	SCLT1	Rhiannon Mellis gene: SCLT1 was added gene: SCLT1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SCLT1 were set to No OMIM phenotype; Oro-facio-digital syndrome type IX; Senior-Løken Syndrome Review for gene: SCLT1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Rare multisystem ciliopathy Super panel Copied from rare multisystem ciliopathies panel: PMID: 24285566 - Adly et al 2014 - 1 case with index patient with consanguineous Saudi parents and a severe ciliopathy phenotype. He had severe midline cleft lip and palate, microcephaly and choanal atresia. He also had significant eye involvement in the form of severe coloboma, and congenital heart disease (ASD and VSD). He had micropenis. Brain imaging revealed pachygyria and absent corpus callosum. He had abnormal inner ear structures. A splicing mutation was identified in SCLT1 (, NM_144643.2:exon5:c.290+2T>C). This mutation completely abolishes the consensus donor site of exon 5 as confirmed by RTPCR, which showed complete skipping of exon 5 resulting in a frameshift and introduction of a premature stop codon (p.Lys79Valfs*4), PMID: 28005958 - de Castro-Miró et al 2016 - A cohort of 33 pedigrees affected with a variety of retinal disorders was analysed by WES. 1 case with compound heterozygosity (one missense and one splicing altering mutations) in SCLT1 that segregates with the condition in the family (2 affected siblings). Proposed to be causative of early-onset Retinitis Pigmentosa. SCLT1 is a member of the centrosomal/ciliary protein family. PMID: 28486600 - Li et al 2017 - report a mouse model with mutated Sclt1 gene. The Sclt1-/- mice exhibit typical ciliopathy phenotypes, including cystic kidney, cleft palate and polydactyly. PMID: 30425282 - Katagiri et al 2018 - a patient with Senior Løken syndrome and her unaffected parents revealed that the patient had infantile-onset retinal dystrophy and juvenile-onset nephronophthisis. Other systemic abnormalities included hepatic dysfunction, megacystis, mild learning disability, autism, obesity, and hyperinsulinemia. Whole-exome sequencing identified compound heterozygous SCLT1 variants (c.1218 + 3insT and c.1631A > G) in the patient. The unaffected parents were heterozygous for each variant. Transcript analysis using reverse transcription PCR demonstrated that the c.1218 + 3insT variant leads to exon 14 skipping (p.V383_M406del), while the other variant (c.1631A > G) primarily leads to exon 17 skipping (p.D480EfsX11) as well as minor amounts of two transcripts. Immunohistochemical analysis demonstrated that the Sclt1 protein was localized to the distal appendage of the photoreceptor basal body, indicating a ciliary protein. = 3 cases plus a mouse model and functional evidence that the protein is a ciliary protein. Sources: Literature
28 Jan 2021	Fetal anomalies v1.194	SDR9C7	Rhiannon Mellis gene: SDR9C7 was added gene: SDR9C7 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13 Review for gene: SDR9C7 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Autosomal recessive congenital ichthyosis Sources: Expert list
28 Jan 2021	Fetal anomalies v1.193	SEC24D	Rhiannon Mellis reviewed gene: SEC24D: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25683121; Phenotypes: Cole-Carpenter syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Jan 2021	Fetal anomalies v1.193	SERPINF1	Rhiannon Mellis gene: SERPINF1 was added gene: SERPINF1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SERPINF1 were set to Osteogenesis imperfecta, type VI Review for gene: SERPINF1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia Sources: Expert list
28 Jan 2021	Fetal anomalies v1.193	SERPINH1	Rhiannon Mellis gene: SERPINH1 was added gene: SERPINH1 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SERPINH1 were set to Osteogenesis imperfecta, type X Review for gene: SERPINH1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia Sources: Expert list
28 Jan 2021	Fetal anomalies v1.193	SGCG	Rhiannon Mellis gene: SGCG was added gene: SGCG was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, autosomal recessive 5 Review for gene: SGCG was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Expert list
28 Jan 2021	Fetal anomalies v1.192	SIX6	Rhiannon Mellis gene: SIX6 was added gene: SIX6 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SIX6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SIX6 were set to Optic disc anomalies with retinal and/or macular dystrophy Review for gene: SIX6 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Anophthalmia and microphthalmia Sources: Literature
28 Jan 2021	Fetal anomalies v1.192	SLC18A3	Rhiannon Mellis gene: SLC18A3 was added gene: SLC18A3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC18A3 were set to PMID: 31059209 Phenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic Review for gene: SLC18A3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Neuromuscular disorders Sources: Literature
28 Jan 2021	Fetal anomalies v1.189	SLC29A3	Rhiannon Mellis gene: SLC29A3 was added gene: SLC29A3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SLC29A3 were set to Histiocytosis-lymphadenopathy plus syndrome Review for gene: SLC29A3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Skeletal dysplasia Sources: Literature
28 Jan 2021	Fetal anomalies v1.187	SMPD4	Rhiannon Mellis gene: SMPD4 was added gene: SMPD4 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMPD4 were set to PMID: 31495489 Phenotypes for gene: SMPD4 were set to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies Review for gene: SMPD4 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Arthrogryposis; Cerebellar hypoplasia Additional comment: Documented fetal phenotype with IUGR, microcephaly, arthrogryposis, and structural brain anomalies in some. (32 reported cases from 12 families) PMID: 31495489 Sources: Literature
28 Jan 2021	Fetal anomalies v1.187	SNX10	Rhiannon Mellis gene: SNX10 was added gene: SNX10 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: SNX10 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SNX10 were set to Osteopetrosis, autosomal recessive 8 Review for gene: SNX10 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Hydrocephalus; Osteopetrosis; Skeletal dysplasia Sources: Expert list
28 Jan 2021	Fetal anomalies v1.187	SOX18	Rhiannon Mellis gene: SOX18 was added gene: SOX18 was added to Fetal anomalies. Sources: Literature,Expert list Mode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome; Hypotrichosis-lymphedema-telangiectasia syndrome Review for gene: SOX18 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Primary lymphoedema Sources: Literature, Expert list
28 Jan 2021	Fetal anomalies v1.187	SOX6	Rhiannon Mellis gene: SOX6 was added gene: SOX6 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SOX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SOX6 were set to Tolchin-Le Caignec syndrome Review for gene: SOX6 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Craniosynostosis Sources: Literature
28 Jan 2021	Fetal anomalies v1.187	SP7	Rhiannon Mellis gene: SP7 was added gene: SP7 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SP7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SP7 were set to Osteogenesis imperfecta, type XII Review for gene: SP7 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Green on related panel(s): Osteogenesis imperfecta; Skeletal dysplasia Sources: Literature
28 Jan 2021	Fetal anomalies v1.187	SPARC	Rhiannon Mellis reviewed gene: SPARC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteogenesis imperfecta, type XVII; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Jan 2021	Fetal anomalies v1.187	STAC3	Rhiannon Mellis gene: STAC3 was added gene: STAC3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STAC3 were set to PMID: 30168660 Phenotypes for gene: STAC3 were set to Myopathy, congenital, Baily-Bloch Review for gene: STAC3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Additional comment: Documented arthrogryposis, also cleft palate, polyhydramnios and reduced fetal movements. PMID: 30168660 Sources: Literature
28 Jan 2021	Fetal anomalies v1.187	STIL	Rhiannon Mellis reviewed gene: STIL: Rating: GREEN; Mode of pathogenicity: None; Publications: 29230157; Phenotypes: Microcephaly 7, primary, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Jan 2021	Fetal anomalies v1.187	STRADA	Rhiannon Mellis gene: STRADA was added gene: STRADA was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy Review for gene: STRADA was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Hydrocephalus). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature
28 Jan 2021	Fetal anomalies v1.185	SULT2B1	Rhiannon Mellis gene: SULT2B1 was added gene: SULT2B1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SULT2B1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SULT2B1 were set to Ichthyosis, congenital, autosomal recessive 14 Review for gene: SULT2B1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Autosomal recessive congenital ichthyosis). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature
28 Jan 2021	Fetal anomalies v1.185	TBC1D32	Rhiannon Mellis gene: TBC1D32 was added gene: TBC1D32 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D32 were set to PMID: 32573025; 31130284; 32060556 Phenotypes for gene: TBC1D32 were set to OFD IX Review for gene: TBC1D32 was set to GREEN Added comment: Now 5 families reported: The same group who reported the first individual with a ciliopathy phenotype (Adly et al 2014) now report two further unrelated fetal cases (Alsahan 2020, Monies et al 2019) with OFD/ciliopathy phenotype: - One had polyhydramnios, hydrocephaly with enlarged biparietal diameter and dilated lateral ventricles, single nostril, anophthalmia, short long bones and echogenic lungs - The other had holoprosencephaly, cyclops, cleft lip, ventricular septal defect, agenesis of corpus callosum, and club feet - There are also two sib pairs (one Finnish, one Pakistani) reported by Hietamaki et al 2020 with TBC1D32 variants and a variable phenotype of pituitary hypoplasia +/- other midline defects, hydrocephalus, short limbs, polydactyly Sources: Literature
28 Jan 2021	Fetal anomalies v1.185	TCTEX1D2	Rhiannon Mellis gene: TCTEX1D2 was added gene: TCTEX1D2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TCTEX1D2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TCTEX1D2 were set to Short-rib thoracic dysplasia 17 with or without polydactyly Review for gene: TCTEX1D2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Rare multisystem ciliopathy Super panel; Skeletal dysplasia; Thoracic dystrophies). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature
28 Jan 2021	Fetal anomalies v1.185	TENM3	Rhiannon Mellis gene: TENM3 was added gene: TENM3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TENM3 were set to Microphthalmia, syndromic 15; ?Microphthalmia, isolated, with coloboma 9 Review for gene: TENM3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Anophthalmia and microphthalmia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature
28 Jan 2021	Fetal anomalies v1.185	TMEM38B	Rhiannon Mellis gene: TMEM38B was added gene: TMEM38B was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TMEM38B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMEM38B were set to Osteogenesis imperfecta, type XIV Review for gene: TMEM38B was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Osteogenesis imperfecta; Skeletal dysplasia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature
28 Jan 2021	Fetal anomalies v1.185	TMEM98	Rhiannon Mellis gene: TMEM98 was added gene: TMEM98 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TMEM98 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TMEM98 were set to Nanophthalmos 4 Review for gene: TMEM98 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Anophthalmia and microphthalmia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature
28 Jan 2021	Fetal anomalies v1.185	TMX2	Rhiannon Mellis gene: TMX2 was added gene: TMX2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TMX2 were set to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity Review for gene: TMX2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Cerebral malformations; Malformations of cortical development; Severe microcephaly). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature
28 Jan 2021	Fetal anomalies v1.185	TNNT3	Rhiannon Mellis gene: TNNT3 was added gene: TNNT3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TNNT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TNNT3 were set to 32779773 Phenotypes for gene: TNNT3 were set to Arthrogryposis, distal, type 2B2 Mode of pathogenicity for gene: TNNT3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: TNNT3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Additional comment: Clearly documented phenotype of distal arthrogryposis. Also, recent paper in Prenatal Diagnosis reporting a het pathogenic variant in TNNT3 in a fetus with FADS; that variant has previously only been described in a family with much milder distal arthrogryposis phenotype. PMID: 32779773 (copied from OMIM): In in vitro studies, Robinson et al. (2007) demonstrated that the TNNI2 R174Q (191043.0001) and R156X (191043.0002) mutations and the TNNT3 mutation R63H (600692.0001) resulted in a gain of function with increased ATPase activity in actin-activated myosin ATPase assays, reflecting increased calcium sensitivity and consistent with increased contractility. In patients, Robinson et al. (2007) concluded that the mutation would cause increased tension in developing muscles, thus resulting in contractures and limb deformities via an active process rather than a passive process. These findings implicated disturbed muscle function as the pathogenic mechanism underlying DA2B. Sources: Literature
28 Jan 2021	Fetal anomalies v1.185	TOE1	Rhiannon Mellis changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (cerebellar hypoplasia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene.
28 Jan 2021	Fetal anomalies v1.185	TOE1	Rhiannon Mellis reviewed gene: TOE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 7; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Jan 2021	Fetal anomalies v1.185	TOR1A	Rhiannon Mellis gene: TOR1A was added gene: TOR1A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TOR1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOR1A were set to 30244176; 29053766; 28516161 Phenotypes for gene: TOR1A were set to Arthrogryposis multiplex congenita 5 Review for gene: TOR1A was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Additional comment: documented phenotype of severe arthrogryposis multiplex congenital with prenatal onset Sources: Literature
28 Jan 2021	Fetal anomalies v1.185	TRAF3IP1	Rhiannon Mellis gene: TRAF3IP1 was added gene: TRAF3IP1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TRAF3IP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRAF3IP1 were set to Senior-Loken syndrome 9 Review for gene: TRAF3IP1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Cystic renal disease (super panel); Rare multisystem ciliopathy Super panel). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature
28 Jan 2021	Fetal anomalies v1.185	TRAP1	Rhiannon Mellis gene: TRAP1 was added gene: TRAP1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TRAP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRAP1 were set to CAKUT; VACTERL Review for gene: TRAP1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature
28 Jan 2021	Fetal anomalies v1.185	TRMT10A	Rhiannon Mellis gene: TRMT10A was added gene: TRMT10A was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TRMT10A were set to Microcephaly, short stature, and impaired glucose metabolism 1 Review for gene: TRMT10A was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Severe microcephaly). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature
28 Jan 2021	Fetal anomalies v1.185	TSEN2	Rhiannon Mellis reviewed gene: TSEN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 2B; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Jan 2021	Fetal anomalies v1.185	TSEN34	Rhiannon Mellis reviewed gene: TSEN34: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 2C; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Jan 2021	Fetal anomalies v1.185	TSFM	Rhiannon Mellis gene: TSFM was added gene: TSFM was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3 Review for gene: TSFM was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Neuromuscular disorders). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Additional comment: IUGR, decreased fetal movements, reduced brain gyri Sources: Literature
28 Jan 2021	Fetal anomalies v1.185	TXNDC15	Rhiannon Mellis gene: TXNDC15 was added gene: TXNDC15 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TXNDC15 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TXNDC15 were set to Meckel Gruber syndrome Review for gene: TXNDC15 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other related PanelApp panel (Cystic renal disease (super panel); Limb disorders; Rare multisystem ciliopathy Super panel). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Comment from copied from skeletal ciliopathies panel: Shaheen et al. 2016 (PMID:27894351) report TXNDC15 variants in two consanguineous Saudi families that share the features of Meckel-Gruber syndrome (a ciliopathy phenotype). Phenotypes of both patients included polydactyly; one patients was still born, and one survived till 11 hours old. Furthermore, through an international collaboration, they were able to identify an additional Meckel-Gruber syndrome patient (Pakistani origin) with a homozygous truncating variant in this gene. The patient also had polydactyly, although a sibling presented similarly but with no polydactyl. Patient fibroblasts had aberrant ciliogenesis. Sources: Other Sources: Literature
28 Jan 2021	Fetal anomalies v1.185	USP9X	Rhiannon Mellis reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: MENTAL RETARDATION, X-LINKED 99, MRX99; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
28 Jan 2021	Fetal anomalies v1.185	VAMP1	Rhiannon Mellis changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Additional comment: Phenotype = congenital myasthenic syndrome. Reported patients present with severe hypotonia from birth, some have contractures, unclear if present at birth but decreased fetal movements reported so could present prenatally. PubMed: 28600779, 28253535, 28168212 Sources: Literature
28 Jan 2021	Fetal anomalies v1.185	VAMP1	Rhiannon Mellis gene: VAMP1 was added gene: VAMP1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: VAMP1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: VAMP1 were set to Myasthenic syndrome, congenital, 25 Review for gene: VAMP1 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature
28 Jan 2021	Fetal anomalies v1.185	VEGFC	Rhiannon Mellis gene: VEGFC was added gene: VEGFC was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: VEGFC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: VEGFC were set to Lymphatic malformation 4 Review for gene: VEGFC was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature
28 Jan 2021	Fetal anomalies v1.185	VRK1	Rhiannon Mellis reviewed gene: VRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 1A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Jan 2021	Fetal anomalies v1.185	WDR81	Rhiannon Mellis gene: WDR81 was added gene: WDR81 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: WDR81 were set to Hydrocephalus, congenital, 3, with brain anomalies Review for gene: WDR81 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel (Cerebellar hypoplasia). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature
28 Jan 2021	Fetal anomalies v1.185	XYLT2	Rhiannon Mellis reviewed gene: XYLT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondyloocular syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
28 Jan 2021	Fetal anomalies v1.185	ZMYND10	Rhiannon Mellis reviewed gene: ZMYND10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ciliary dyskinesia, primary, 22; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
28 Jan 2021	Fetal anomalies v1.185	AKT2	Rhiannon Mellis gene: AKT2 was added gene: AKT2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: AKT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: AKT2 were set to Hypoinsulinemic hypoglycemia with hemihypertrophy Review for gene: AKT2 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel (BWS and Overgrowth panel). Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature
28 Jan 2021	Fetal anomalies v1.185	ADAMTS3	Rhiannon Mellis gene: ADAMTS3 was added gene: ADAMTS3 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: ADAMTS3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ADAMTS3 were set to Hennekam lymphangiectasia-lymphedema syndrome 3 Review for gene: ADAMTS3 was set to GREEN Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in October 2020. This gene has a Green evidence rating on at least one other PanelApp panel. Clinical review and curation was performed by Lyn Chitty, Rhiannon Mellis, and Richard Scott. Outcome of review: Confirmed that phenotype is fetally-relevant: add to the Fetal anomalies panel as a Green gene. Sources: Literature
28 Jan 2021	Fetal anomalies v1.185	ABL1	Rhiannon Mellis reviewed gene: ABL1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital heart defects and skeletal malformations syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
26 Jan 2021	Fetal anomalies v1.184	NUAK2	Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Single consanguineous family with three consecutive fetuses with anencephaly. Exome sequencing revealed a recessive 21-bp in-frame deletion in NUAK2 segregating with the disease. Pathogenicity is supported by in vitro and animal model data. Rating Amber, awaiting further cases/clinical evidence prior to inclusion as diagnostic-grade (added 'watchlist' tag)
26 Jan 2021	Fetal anomalies v1.183	AMBRA1	Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Sufficient unrelated cases and supportive functional data. However, only a single publication linking this gene to human disease at present (PMID:32333458). Segregation data was not provided and penetrance remains unclear. AMBRA1 was investigated by targeted sequencing and so there also is a possibility of variants in other genes. Currently the evidence is insufficient for a Green rating, but this may be revised if further cases/clinical evidence arise (added 'watchlist' tag)
26 Jan 2021	Fetal anomalies v1.180	CALCRL	Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Single family with recurrent hydrops fetalis (PMID:30115739), supported by in vitro and animal model data. Rating Red as additional cases required to corroborate this gene-disease association.
21 Jan 2021	Fetal anomalies v1.178	SHROOM4	Arina Puzriakova Phenotypes for gene: SHROOM4 were changed from HP:0001274 to Stocco dos Santos X-linked mental retardation syndrome, 300434
21 Jan 2021	Fetal anomalies v1.176	TMEM260	Arina Puzriakova Phenotypes for gene: TMEM260 were changed from Neurodevelopmental, Cardiac, and Renal Syndrome to Structural heart defects and renal anomalies syndrome, OMIM:617478; Structural heart defects and renal anomalies syndrome, MONDO:0044321
21 Jan 2021	Fetal anomalies v1.171	NONO	Arina Puzriakova Phenotypes for gene: NONO were changed from SYNDROMIC INTELLECTUAL DISABILITY to Left ventricular non-compaction cardiomyopathy (LVNC); Ventricular septal defect (VSD); Pulmonary stenosis; Atresia; Ebstein’s anomaly
21 Jan 2021	Fetal anomalies v1.170	NONO	Arina Puzriakova Added comment: Comment on list classification: Currently there is not enough evidence to promote this gene to Green. Additional cases with a fetally-relevant phenotype are required prior to inclusion at diagnostic-grade. Maintaining Amber rating on this panel.
21 Jan 2021	Fetal anomalies v1.168	SNAP29	Arina Puzriakova Added comment: Comment on list classification: Maintaining Amber rating as currently there is not enough evidence to promote to Green. Phenotypes do not appear to be fetally-relevant and gestation is typically uneventful. However, symptoms do arise during the first year of life.
21 Jan 2021	Fetal anomalies v1.167	SNAP29	Arina Puzriakova Phenotypes for gene: SNAP29 were changed from CEDNIK SYNDROME to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528; CEDNIK syndrome, MONDO:0012290
21 Jan 2021	Fetal anomalies v1.165	NUP88	Arina Puzriakova Added comment: Comment on list classification: New gene added by Julia Baptista (Royal Devon and Exeter NHS Foundation Trust). Two unrelated families with lethal FADS and different biallelic variants in the NUP88 gene (PMID: 30543681). Zebrafish model recapitulated some human phenotypes such as locomotor and neuromuscular junction defects. NUP88 is associated with a relevant phenotype in OMIM but is not currently in Gene2Phenotype. Fetally-relevant phenotype but additional cases required prior to inclusion as diagnostic-grade. Added 'watchlist' tag.
20 Jan 2021	Fetal anomalies v1.162	TRAPPC12	Arina Puzriakova Added comment: Comment on list classification: Maintaining Amber rating as currently there are not enough unrelated cases with a fetally-relevant phenotype to promote to Green. Added 'watchlist' tag.
20 Jan 2021	Fetal anomalies v1.160	TRAPPC12	Arina Puzriakova Phenotypes for gene: TRAPPC12 were changed from Progressive Childhood Encephalopathy and Golgi Dysfunction to Hydrocephaly; Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696
20 Jan 2021	Fetal anomalies v1.158	TRAPPC12	Arina Puzriakova reviewed gene: TRAPPC12: Rating: AMBER; Mode of pathogenicity: None; Publications: 32347653, 28777934; Phenotypes: Hydrocephaly, Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669, Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
18 Jan 2021	Fetal anomalies v1.158	NEK9	Arina Puzriakova Added comment: Comment on list classification: There is now sufficient evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag). At least 3 unrelated families presenting a similar fetally-relevant phenotype in association with different biallelic variants in this gene. NEK9 is associated with relevant phenotypes in OMIM (MIM# 614262 and 617022) but currently is not in Gene2Phenotype.
18 Jan 2021	Fetal anomalies v1.156	NEK9	Arina Puzriakova Phenotypes for gene: NEK9 were changed from Lethal congenital contracture syndrome 10 617022 to ?Arthrogryposis, Perthes disease, and upward gaze palsy, OMIM:614262; Arthrogryposis, Perthes disease, and upward gaze palsy, MONDO:0013660; Lethal congenital contracture syndrome 10, OMIM:617022; NEK9-related lethal skeletal dysplasia, MONDO:0014870
18 Jan 2021	Fetal anomalies v1.155	MN1	Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Multiple unrelated individuals (>20) described with a complex developmental disorder and de novo truncating MN1 variants. This gene will be flagged for review to determine whether the phenotype is fetally-relevant and there is enough evidence to include as Green. Plausible that some features of the disorder, such as craniofacial abnormalities and structural brain anomalies may be detected prenatally. However based on published clinical descriptions, antenatal history was uneventful in most cases - but reports did include fetal brain anomalies (1), NICU admission (1) and IUGR (2). Similarly, neonatal problems were only reported in a few patients but included respiratory issues (3), abnormal ABR (1), congenital diaphragmatic hernia (1), perinatal hypoxia (1), congenital hypothyroidism (1), hearing impairment (1) and SCBU admission (1) (see Supplementary material in PMID: 31834374)
18 Jan 2021	Fetal anomalies v1.153	ATP1A2	Arina Puzriakova changed review comment from: Comment on list classification: There are now at least 4 unrelated families reported with a fetally-relevant phenotype and different homozygous truncating variants in the ATP1A2 gene (PMIDs: 30690204 and 316089320). Therefore this gene can now be promoted from Amber to Green at the next GMS panel update (added 'for-review' tag); to: Comment on list classification: There are now at least 4 unrelated families reported with a fetally-relevant phenotype and different homozygous truncating variants in the ATP1A2 gene (PMIDs: 30690204 and 31608932). Therefore this gene can now be promoted from Amber to Green at the next GMS panel update (added 'for-review' tag)
18 Jan 2021	Fetal anomalies v1.153	ATP1A2	Arina Puzriakova Added comment: Comment on list classification: There are now at least 4 unrelated families reported with a fetally-relevant phenotype and different homozygous truncating variants in the ATP1A2 gene (PMIDs: 30690204 and 316089320). Therefore this gene can now be promoted from Amber to Green at the next GMS panel update (added 'for-review' tag)
15 Jan 2021	Fetal anomalies v1.151	TMEM216	Arina Puzriakova changed review comment from: Comment on list classification: At least 3 variants reported in 6 families with Meckel syndrome, a fetally-relevant phenotype. Therefore, there is sufficient evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag). TMEM216 is associated with Meckel and Joubert syndrome in OMIM and Gene2Phenotype.; to: Comment on list classification: At least 3 reported variants in 6 families with Meckel syndrome, a fetally-relevant phenotype. Therefore, there is sufficient evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag). TMEM216 is associated with Meckel and Joubert syndrome in OMIM and Gene2Phenotype.
15 Jan 2021	Fetal anomalies v1.149	TMEM216	Arina Puzriakova Added comment: Comment on list classification: At least 3 variants reported in 6 families with Meckel syndrome, a fetally-relevant phenotype. Therefore, there is sufficient evidence to promote this gene to Green at the next GMS panel update (added 'for-review' tag). TMEM216 is associated with Meckel and Joubert syndrome in OMIM and Gene2Phenotype.
15 Jan 2021	Fetal anomalies v1.147	TMEM107	Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM, but not in Gen2Phen at present. Biallelic variants identified in at least 5 unrelated families with a range of ciliopathic defects including oral-facial-digital syndrome (PMID: 26518474), Meckel-Gruber syndrome (PMID: 26123494), and Joubert syndrome (PMID: 26595381). Phenotype is fetally-relevant in the two apparently unrelated MKS-13 infants, although it should be noted that they were found to share a single haplotype (founder effect). However, it is unclear whether this panel is relevant to OFD case, which would be necessary to reach the threshold for inclusion of TMEM107 as Green. Therefore, rating Amber but will be flagged at the next GMS panel review to assess the phenotypic relevance in context of the panel scope (added 'for-review' tag); to: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM, but not in Gen2Phen at present. Biallelic variants identified in at least 5 unrelated families with a range of ciliopathic defects including oral-facial-digital syndrome (PMID: 26518474 and 26595381), Meckel-Gruber syndrome (PMID: 26123494), and Joubert syndrome (PMID: 26595381). Phenotype is fetally-relevant in the two unrelated MKS-13 infants, although it should be noted that they were found to share a single haplotype (founder effect), as well as the OFD syndrome cases. Rating Amber but should be promoted to Green at the next GMS panel update (added 'for-review' tag)
15 Jan 2021	Fetal anomalies v1.147	TMEM107	Arina Puzriakova changed review comment from: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM, but not in Gen2Phen at present. Biallelic variants identified in at least 5 unrelated families with a range of ciliopathic defects including oral-facial-digital syndrome (PMID: 26518474), Meckel-Gruber syndrome (PMID: 26123494), and Joubert syndrome (PMID: 26595381). Phenotype is fetally-relevant in the two apparently unrelated MKS-13 infants, although it should be noted that they were found to share a single haplotype (founder effect). However, it is unclear whether this panel would be applicable in OFD case which would be necessary to reach the threshold for inclusion of TMEM107 as Green. Therefore, rating Amber but will be flagged at the next GMS panel review to assess the phenotypic relevance in context of the panel scope (added 'for-review' tag); to: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM, but not in Gen2Phen at present. Biallelic variants identified in at least 5 unrelated families with a range of ciliopathic defects including oral-facial-digital syndrome (PMID: 26518474), Meckel-Gruber syndrome (PMID: 26123494), and Joubert syndrome (PMID: 26595381). Phenotype is fetally-relevant in the two apparently unrelated MKS-13 infants, although it should be noted that they were found to share a single haplotype (founder effect). However, it is unclear whether this panel is relevant to OFD case, which would be necessary to reach the threshold for inclusion of TMEM107 as Green. Therefore, rating Amber but will be flagged at the next GMS panel review to assess the phenotypic relevance in context of the panel scope (added 'for-review' tag)
15 Jan 2021	Fetal anomalies v1.147	TMEM107	Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM, but not in Gen2Phen at present. Biallelic variants identified in at least 5 unrelated families with a range of ciliopathic defects including oral-facial-digital syndrome (PMID: 26518474), Meckel-Gruber syndrome (PMID: 26123494), and Joubert syndrome (PMID: 26595381). Phenotype is fetally-relevant in the two apparently unrelated MKS-13 infants, although it should be noted that they were found to share a single haplotype (founder effect). However, it is unclear whether this panel would be applicable in OFD case which would be necessary to reach the threshold for inclusion of TMEM107 as Green. Therefore, rating Amber but will be flagged at the next GMS panel review to assess the phenotypic relevance in context of the panel scope (added 'for-review' tag)
15 Jan 2021	Fetal anomalies v1.143	KIF14	Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM and Gene2Phenotype. At least 13 unrelated families reported with most cases being of fetal relevance. Phenotypes within the spectrum of fetal forms of ciliopathies (MKS) as well as severe primary microcephaly. Also supportive zebrafish model. Rating Amber but should be promoted to Green at the next GMS panel update (added 'for-review' tag)
15 Jan 2021	Fetal anomalies v1.142	KIF14	Arina Puzriakova Phenotypes for gene: KIF14 were changed from ?Meckel syndrome 12; Microcephaly 20, primary to Microcephaly 20, primary, autosomal recessive, OMIM:617914; Microcephaly 20, primary, autosomal recessive, MONDO:0054761; Meckel syndrome 12, OMIM:616258; Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552
14 Jan 2021	Fetal anomalies v1.137	B9D2	Arina Puzriakova Added comment: Comment on list classification: New gene added by Rhiannon Mellis (GOSH). Associated with relevant phenotype in OMIM, but not in Gen2Phen at present. Biallelic variants reported in at least four unrelated cases (2 with Joubert syndrome, PMID: 26092869; and 2 with MKS, PMIDs: 21763481 and 31411728) Rating Amber but should be promoted to Green at the next GMS panel update (added 'for-review' tag) as sufficient number of unrelated cases with fetally-relevant phenotype due to variants in the B9D2 gene.
05 Jan 2021	Fetal anomalies v1.134	AP4E1	Arina Puzriakova Phenotypes for gene: AP4E1 were changed from CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 4 to Spastic paraplegia 51, autosomal recessive, OMIM:613744; Hereditary spastic paraplegia 51, MONDO:0013401
05 Jan 2021	Fetal anomalies v1.133	AP4B1	Arina Puzriakova Phenotypes for gene: AP4B1 were changed from CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 5 to Spastic paraplegia 47, autosomal recessive, OMIM:614066; Hereditary spastic paraplegia 47, MONDO:0013551
04 Jan 2021	Fetal anomalies v1.132	TBCD	Arina Puzriakova Phenotypes for gene: TBCD were changed from Early-Onset Neurodegenerative Encephalopathy to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, OMIM:617193; Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome, MONDO:0044646
04 Jan 2021	Fetal anomalies v1.130	TRIP4	Arina Puzriakova Phenotypes for gene: TRIP4 were changed from Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures to Spinal muscular atrophy with congenital bone fractures 1, OMIM:616866; Prenatal-onset spinal muscular atrophy with congenital bone fractures, MONDO:0000209; Spinal muscular atrophy with congenital bone fractures 1, MONDO:0014806; ?Muscular dystrophy, congenital, Davignon-Chauveau type, OMIM:617066; Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome, MONDO:0014896
21 Dec 2020	Fetal anomalies v1.126	HSPG2	Arina Puzriakova Phenotypes for gene: HSPG2 were changed from DYSSEGMENTAL DYSPLASIA SILVERMAN-HANDMAKER TYPE; SCHWARTZ-JAMPEL SYNDROME to Schwartz-Jampel syndrome, type 1, OMIM:255800; Schwartz-Jampel syndrome, MONDO:0009717; Dyssegmental dysplasia, Silverman-Handmaker type, OMIM:224410; Silverman-Handmaker type dyssegmental dysplasia, MONDO:0009140
18 Dec 2020	Fetal anomalies v1.123	AARS	Arina Puzriakova Phenotypes for gene: AARS were changed from EARLY-ONSET EPILEPTIC ENCEPHALOPATHY WITH PERSISTENT MYELINATION DEFECT. to Developmental and epileptic encephalopathy 29, OMIM:616339; Developmental and epileptic encephalopathy, 29, MONDO:0014593
07 Dec 2020	Fetal anomalies v1.121	SOX3	Arina Puzriakova Phenotypes for gene: SOX3 were changed from SEX REVERSAL TYPE 3; MENTAL RETARDATION X-LINKED WITH ISOLATED GROWTH HORMONE DEFICIENCY to Mental retardation, X-linked, with isolated growth hormone deficiency, OMIM:300123; Intellectual disability, X-linked, with panhypopituitarism, MONDO:0010252; Panhypopituitarism, X-linked, OMIM:312000; Panhypopituitarism, X-linked, MONDO:0010712
02 Dec 2020	Fetal anomalies v1.120	FKBP8	Eleanor Williams Added comment: Comment on list classification: Changing rating from red to amber. 5 cases reported with plausible disease causing variants but only the FKBP8 gene looked at.
02 Dec 2020	Fetal anomalies v1.119	FKBP8	Eleanor Williams gene: FKBP8 was added gene: FKBP8 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: FKBP8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FKBP8 were set to 32969478 Phenotypes for gene: FKBP8 were set to spina bifida HP:0002414 Review for gene: FKBP8 was set to AMBER Added comment: Not associated with a phenotype in OMIM. PMID: 32969478 - Tian et al 2020 - performed Sanger sequencing of FKBP8 on DNA samples from 472 spina bifida (SB) affected fetuses and 565 unaffected controls. 5 different rare heterozygous variants (MAF ≤ 0.001) were identified among the SB patients, while no deleterious rare variants were identified in the controls. 4 of the variants are missense, the other is a stop-gain. 2 cases were in white-Hispanic patients while the other 3 were non-white Hispanic. Functional studies showed that p.Glu140* affected FKBP8 localization to the mitochondria and impaired its interaction with BCL2 ultimately leading to an increase in cellular apoptosis. p.Ser3Leu, p.Lys315Asn and p.Ala292Ser variants decreased FKBP8 protein level. Gene expression was studied in mouse Fkbp8-/- embryos and found to be abnormal. Previous mouse models have shown neural tube defects. Sufficient cases to rate green, but only the FKBP8 gene looked at so perhaps some caution required while further evidence is gathered. Sources: Literature
02 Dec 2020	Fetal anomalies v1.118	SCN1A	Arina Puzriakova Phenotypes for gene: SCN1A were changed from SCN1A-RELATED SEIZURE DISORDERS to Dravet syndrome, OMIM:607208; Arthrogryposis multiplex congenita
02 Dec 2020	Fetal anomalies v1.116	SCN1A	Arina Puzriakova Added comment: Comment on list classification: Although it is anticipated that following birth early-onset seizures will likely represent the predominant characteristic of the phenotype, arthrogryposis multiplex congenita may be detected in utero as demonstrated with the cases in PMID:32928894. Therefore, this gene will be flagged for review at the next GMS panel update to assess whether this is sufficient for inclusion on this panel (added 'for-review' tag).
02 Dec 2020	Fetal anomalies v1.115	SCN1A	Arina Puzriakova reviewed gene: SCN1A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32928894, 29543227; Phenotypes: Dravet syndrome, OMIM:607208, Arthrogryposis multiplex congenita; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
30 Nov 2020	Fetal anomalies v1.115	MN1	Rhiannon Mellis gene: MN1 was added gene: MN1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: MN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MN1 were set to 31834374; 31839203; 15870292 Phenotypes for gene: MN1 were set to CEBALID syndrome, 618774 Mode of pathogenicity for gene: MN1 was set to Other Review for gene: MN1 was set to GREEN Added comment: Copied from MN1 review on Cortical malformations panel: Associated with phenotype in OMIM, and a probable gene for MN1 C-terminal truncation syndrome in G2P. Over 20 unrelated probands reported with heterozygous MN1 truncating variants, associated with a distinct phenotype which includes DD, craniofacial abnormalities, hearing loss, and structural abnormalities in the brain (e.g. polymicrogyria, dysmorphic corpus callosum and anomalies of the cerebellum - rhombencephalosynapsis). Most variants cluster in the C-terminal, and all were predicted to escape NMD. Authors postulated that the resulting truncated protein may have a dominant-negative or gain-of-function effect. Also phenotypically supportive knockout mouse model. Sources: Literature
20 Nov 2020	Fetal anomalies v1.115	DDC	Arina Puzriakova Phenotypes for gene: DDC were changed from AROMATIC L-AMINO-ACID DECARBOXYLASE DEFICIENCY to Aromatic L-amino acid decarboxylase deficiency, OMIM:608643; Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084
16 Nov 2020	Fetal anomalies v1.113	COX6B1	Arina Puzriakova Phenotypes for gene: COX6B1 were changed from MITOCHONDRIAL COMPLEX IV DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 7, OMIM:619051
16 Nov 2020	Fetal anomalies v1.112	SCO1	Arina Puzriakova Phenotypes for gene: SCO1 were changed from MITOCHONDRIAL COMPLEX IV DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 4, OMIM:619048
03 Nov 2020	Fetal anomalies v1.108	GFRA1	Zornitza Stark gene: GFRA1 was added gene: GFRA1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GFRA1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GFRA1 were set to 33020172 Phenotypes for gene: GFRA1 were set to Renal agenesis Review for gene: GFRA1 was set to AMBER Added comment: Two unrelated families reported with bi-allelic LOF variants identified in individuals with bilateral renal agenesis. GFRA1 gene encodes a receptor on the Wolffian duct that regulates ureteric bud outgrowth in the development of a functional renal system. Also relevant to the CAKUT panel. Sources: Literature
28 Oct 2020	Fetal anomalies v1.108	MFSD2A	Arina Puzriakova Phenotypes for gene: MFSD2A were changed from MICROCEPHALY 15, PRIMARY, AUTOSOMAL RECESSIVE to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain imaging abnormalities, 616486
22 Oct 2020	Fetal anomalies v1.107	NEK9	Rhiannon Mellis edited their review of gene: NEK9: Added comment: Deden et al (2020) report a further family with two consecutive prenatal presentations with compound heterozygous NEK9 variants. Both fetuses had arthrogryposis. Both variants were reported as VUS when detected in the first fetus, which initially presented with 'short long bones, bowed femur, micrognathia, talipes and deviated hand' but re-evaluated after the phenotype progressed to arthrogryposis and then the next pregnancy showed the same ultrasound abnormalities and the same compound het variants. At this point the authors felt this represented a conclusive diagnosis.; Changed rating: GREEN; Changed publications: PMID: 26908619, 26633546, 32333414; Changed phenotypes: Arthrogryposis, short long bones
09 Oct 2020	Fetal anomalies v1.104	USP18	Arina Puzriakova Added comment: Comment on list classification: With addition of the recently reported case (PMID:31940699) there is now a total of three families with pseudo-TORCH syndrome due to biallelic variants in USP18 (two carrying the same founder variant). A rating upgrade from Amber to Green should be considered and therefore this gene will be flagged for review at the date of next GMS panel update (added 'for-review' tag).
08 Oct 2020	Fetal anomalies v1.101	TMEM260	Rhiannon Mellis reviewed gene: TMEM260: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 28318500; Phenotypes: STructural heart defects, Renal anomalies, Agenesis of corpus callosum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
07 Oct 2020	Fetal anomalies v1.100	CTNND1	Eleanor Williams reviewed gene: CTNND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32196547; Phenotypes: Blepharocheilodontic syndrome 2, 617681, cardiovascular anomalies, developmental delay, choanal atresia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
07 Oct 2020	Fetal anomalies v1.99	TRPM7	Eleanor Williams reviewed gene: TRPM7: Rating: AMBER; Mode of pathogenicity: None; Publications: 32503408, 31423533; Phenotypes: Cardiac arrhythmia, stillbirth; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
06 Oct 2020	Fetal anomalies v1.97	SMN1	Eleanor Williams reviewed gene: SMN1: Rating: ; Mode of pathogenicity: None; Publications: 32644125, 32644120; Phenotypes: Spinal muscular atrophy; Mode of inheritance: None
05 Oct 2020	Fetal anomalies v1.97	NUAK2	Zornitza Stark gene: NUAK2 was added gene: NUAK2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: NUAK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUAK2 were set to 32845958 Phenotypes for gene: NUAK2 were set to Anencephaly Review for gene: NUAK2 was set to AMBER Added comment: Novel gene described in single consanguineous family with three FDIU and extensive anencephaly. Hom inframe del affecting functional kinase domain, parents confirmed carriers. Good functional data showing loss of enzyme function and mouse model with 40% anencephaly after knock-out. Sources: Literature
09 Sep 2020	Fetal anomalies v1.95	B9D2	Rhiannon Mellis gene: B9D2 was added gene: B9D2 was added to Fetal anomalies. Sources: Literature,NHS GMS Mode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B9D2 were set to PMID: 21763481; 26092869 Phenotypes for gene: B9D2 were set to Joubert syndrome; Meckel syndrome Review for gene: B9D2 was set to GREEN gene: B9D2 was marked as current diagnostic Added comment: 2 fetuses with MKS in one consanguineous family with homozygous B9D2 pathogenic variants. Functional studies of the variant confirmed loss of function. (PMID: 21763481) 2 unrelated patients with Joubert syndrome with different compound het B9D2 variants. (PMID: 26092869) NB: Currently Green in ciliopathies panels. We report variants in this gene on our postnatal ciliopathies panel at GOSH/NTGLH. Sources: Literature, NHS GMS
09 Sep 2020	Fetal anomalies v1.95	TMEM107	Rhiannon Mellis gene: TMEM107 was added gene: TMEM107 was added to Fetal anomalies. Sources: Literature,NHS GMS Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM107 were set to PMID: 26123494; 26518474; 26595381 Phenotypes for gene: TMEM107 were set to ?Joubert syndrome 29; Meckel syndrome 13; Orofaciodigital syndrome XVI Review for gene: TMEM107 was set to GREEN gene: TMEM107 was marked as current diagnostic Added comment: 2 unrelated infants, born of consanguineous Saudi parents, with Meckel syndrome-13 (PMID: 26123494) 1 patient with oro-facio-digital syndrome, and a mouse model with ciliopathy phenotype (PMID: 26518474) 1 man with Jouberts syndrome and female twins (from an unrelated family) with orofaciodigital syndrome. Additional functional studies. (PMID: 26595381) NB: Currently Green on rare multisystem/renal/neurological ciliopathies panels. We report variants in this gene on our postnatal ciliopathies panel at GOSH/NTGLH Sources: Literature, NHS GMS
09 Sep 2020	Fetal anomalies v1.95	KIF14	Rhiannon Mellis gene: KIF14 was added gene: KIF14 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF14 were set to PMID: 24128419; 30388224; 28892560; 29343805 Phenotypes for gene: KIF14 were set to ?Meckel syndrome 12; Microcephaly 20, primary Review for gene: KIF14 was set to GREEN gene: KIF14 was marked as current diagnostic Added comment: Two fetuses in one family with complex multiple congenital anomalies consistent with ciliopathy phenotype. (PMID: 24128419) Four more families with fetuses with similar phenotype (microcephaly, brain malformations and renal agenesis or hypodysplasia). Also functional (zebrafish) studies. Authors conclude that LOF variants cause the above syndromic phenotype while hypomorphic variants cause microcephaly without kidney defects. (PMID: 30388224) Four unrelated families with AR primary microcephaly and biallelic KIF14 pathogenic variants (PMID: 28892560) Four more unrelated families with AR primary microcephaly and biallelic KIF14 pathogenic variants. Two sibs from one of the families were fetuses with severe microcephaly detected prenatally and leading to termination of pregnancy. (PMID: 29343805) Sources: Literature
08 Sep 2020	Fetal anomalies v1.95	SLC20A1	Zornitza Stark gene: SLC20A1 was added gene: SLC20A1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SLC20A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: SLC20A1 were set to 32850778; 27013921 Phenotypes for gene: SLC20A1 were set to Bladder-Exstrophy-Epispadias Complex (BEEC) Review for gene: SLC20A1 was set to GREEN gene: SLC20A1 was marked as current diagnostic Added comment: Three individuals and animal model supporting role of this gene in urinary tract and urorectal development. We have included on our CAKUT panel. Sources: Literature
07 Sep 2020	Fetal anomalies v1.95	TRPM7	Zornitza Stark gene: TRPM7 was added gene: TRPM7 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TRPM7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPM7 were set to 32503408; 31423533 Phenotypes for gene: TRPM7 were set to Cardiac arrhythmia, stillbirth Review for gene: TRPM7 was set to AMBER Added comment: I am not sure if genes linked to stillbirth belong on this panel. This gene encodes an ion channel expressed in the nervous and cardiac systems. It has previously been associated with ALS/dementia in the Guam population, but the variant in question, p.Thr1482Ile is present in >23,000 hets in gnomad, which is out of keeping for a rare Mendelian disorder. Note recent publication associating missense variants with cardiac arrhythmia and stillbirth, with some functional data provided to substantiate effect of variant on protein function but not necessarily establish gene-disease association. Sources: Literature
07 Sep 2020	Fetal anomalies v1.95	GDF2	Zornitza Stark gene: GDF2 was added gene: GDF2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GDF2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GDF2 were set to 32618121 Phenotypes for gene: GDF2 were set to Lymphatic dysplasia; hydrothorax; hydrops Review for gene: GDF2 was set to RED Added comment: Single family reported, two affected individuals. New MOI. Monoallelic variants in this gene are associated with HHT/PAH. Sources: Literature
02 Sep 2020	Fetal anomalies v1.95	TOGARAM1	Arina Puzriakova Classified gene: TOGARAM1 as Red List (low evidence)
02 Sep 2020	Fetal anomalies v1.95	TOGARAM1	Arina Puzriakova Gene: togaram1 has been classified as Red List (Low Evidence).
02 Sep 2020	Fetal anomalies v1.94	TOGARAM1	Arina Puzriakova gene: TOGARAM1 was added gene: TOGARAM1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TOGARAM1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TOGARAM1 were set to 32747439 Phenotypes for gene: TOGARAM1 were set to Cleft of the lip and palate; Microphthalmia; Cerebral dysgenesis; Hydrocephalus Added comment: PMID: 32747439 (2020) - Novel gene-disease association. In two sibling fetuses with a malformation disorder characterised by microcephaly, severe cleft lip and palate, microphthalmia, and brain anomalies, WES revealed compound heterozygous variants ([c.1102C>T, p.Arg368Trp] and [c.3619C>T, p.Arg1207*]) in the TOGARAM1 gene. Functional analysis of the missense variant in a C. elegans model showed impaired lipophilic dye uptake, with shorter and altered cilia in sensory neurons. In vitro analysis revealed faster microtubule polymerisation compared to wild-type, suggesting aberrant tubulin binding. Sources: Literature
03 Aug 2020	Fetal anomalies v1.74	AMBRA1	Zornitza Stark gene: AMBRA1 was added gene: AMBRA1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: AMBRA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: AMBRA1 were set to 17589504; 32333458 Phenotypes for gene: AMBRA1 were set to Neural tube defects Review for gene: AMBRA1 was set to GREEN gene: AMBRA1 was marked as current diagnostic Added comment: 5 rare missense variants were identified in 6 cases from a neural tube defect cohort, and 4 (p.Thr80Met, p.Leu274Phe, p.Ser743Phe, and p.Met884Val) of them were functionally validated to affect autophagy regulation in vitro or zebrafish embryo development in vivo. There is also null mouse model with neural tube defects. Sources: Literature
13 Jul 2020	Fetal anomalies v1.74	CEP120	Rhiannon Mellis gene: CEP120 was added gene: CEP120 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP120 were set to PMID: 2720821; 25361962 Phenotypes for gene: CEP120 were set to Joubert syndrome 31; Short-rib thoracic dysplasia 13 with or without polydactyly Review for gene: CEP120 was set to GREEN Added comment: PMID: 27208211 identifies CEP120 variants in 6 unrelated families, segregating with disease within the families, including four children with milder Joubert phenotype and two fetuses with prenatal phenotypes of more severe ciliopathy. PMID: 25361962 describes 4 unrelated infants, 3 male and 1 female, with short-rib thoracic dysplasia and polydactyly (SRTD). CEP120 is rated Green on the following PanelApp panels: Thoracic dystrophies, Skeletal dysplasia, Skeletal ciliopathies, Rare multisystem ciliopathy disorders. Sources: Literature
13 Jul 2020	Fetal anomalies v1.74	SLC12A6	Sarah Leigh commented on gene: SLC12A6: For-review tag has been added as it maybe appropriate to change the MOI to BOTH monoallelic and biallelic, autosomal or pseudoautosomal at the next major review, to ensure that de novo heterozgous variants are identified.
01 Jul 2020	Fetal anomalies v1.73	TMEM94	Rhiannon Mellis gene: TMEM94 was added gene: TMEM94 was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: TMEM94 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TMEM94 were set to PMID: 30526868 Phenotypes for gene: TMEM94 were set to Intellectual developmental disorder with cardiac defects and dysmorphic facies Review for gene: TMEM94 was set to GREEN Added comment: Literature reports 10 patients from 6 unrelated families, and a mouse model PMID: 30526868 Reviewed with Prof Lyn Chitty for fetally relevant phenotype (Yes - Congenital heart malformations including: Atrial septal defect; Ventricular septal defect; Pulmonary hypoplasia; Pulmonary atresia; Tetralogy of Fallot; Double outlet right ventricle Sources: Literature, Expert Review
01 Jul 2020	Fetal anomalies v1.73	GDF1	Rhiannon Mellis gene: GDF1 was added gene: GDF1 was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: GDF1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: GDF1 were set to PMID: 20413652; 28991257; 17924340 Phenotypes for gene: GDF1 were set to Congenital heart defects, multiple types; Right atrial isomerism (Ivemark) Review for gene: GDF1 was set to GREEN Added comment: Right atrial isomerism (AR): 5 sibs in one family PMID: 20413652; One unrelated individual with RAI, complex cardiac anomalies, abdominal heterotaxy and asplenia PMID: 28991257 Other varied CHD (including ToF, DORV, TGA) (AD): 8 unrelated individuals PMID 17924340 Reviewed for fetally relevant phenotype by Prof Lyn Chitty (Yes) This gene appears on our local heterotaxy panel (NETRGL) and as Green on Panelapp Laterality disorders panel and Familial non-syndromic CHD panel. Sources: Literature, Expert Review
01 Jul 2020	Fetal anomalies v1.73	CFAP53	Rhiannon Mellis gene: CFAP53 was added gene: CFAP53 was added to Fetal anomalies. Sources: Literature,Expert Review Mode of inheritance for gene: CFAP53 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CFAP53 were set to PMID: 22577226; PMID: 25504577; PMID: 26531781 Phenotypes for gene: CFAP53 were set to Heterotaxy, visceral, 6, autosomal recessive; Dextrocardia; Transposition of the great arteries; gut malrotation; midline liver; inverted spleen Review for gene: CFAP53 was set to GREEN Added comment: Literature reports 6 individuals from 4 families and a zebrafish model PMID: 22577226, PMID: 25504577, PMID: 26531781 Reviewed for fetally relevant phenotype by Prof Lyn Chitty (yes). This gene appears on our local heterotaxy panel (NETRGL) and on the Panelapp laterality disorders and non-syndromic CHD panels (Green) Sources: Literature, Expert Review
01 Jul 2020	Fetal anomalies v1.73	ACVR2B	Rhiannon Mellis gene: ACVR2B was added gene: ACVR2B was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: ACVR2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ACVR2B were set to PMID: 9916847; PMID: 9242489 Phenotypes for gene: ACVR2B were set to Heterotaxy; Dextrocardia; Double outlet right ventricle; Transposition of the great arteries; Gut malrotation; polysplenia; right-sided spleen; asplenia Review for gene: ACVR2B was set to GREEN Added comment: Reported in literature 3 unrelated cases PMID: 9916847 and a mouse model PMID: 9242489 Reviewed by Prof Lyn Chitty for fetally relevant phenotype (yes). This gene is included in our local heterotaxy panel (NETRGL). Sources: Expert Review, Literature
25 Jun 2020	Fetal anomalies v1.73	COL3A1	Rhiannon Mellis gene: COL3A1 was added gene: COL3A1 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: COL3A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL3A1 were set to PMID: 28258187; 28742248; 25205403; 27168972; 24922459 Phenotypes for gene: COL3A1 were set to HP:0002126; HP:0001883; HP:0006496 Penetrance for gene: COL3A1 were set to Incomplete Review for gene: COL3A1 was set to GREEN Added comment: On OMIM COL3A1 has a polymicrogyria phenotype in the biallelic form, as well as talipes and other features (PMID: 28258187; PMID: 28742248; PMID: 25205403). No specifically prenatal reports of polymicrogyria in the literature but this feature would be detectable on fetal US and especially on fetal MRI. A monoallelic COL3A1 variant has been reported in one case in a prenatal exome series (PMID: 27168972), causing EDS IV with a prenatal phenotype of forearm hypoplasia and phalangeal defects. PMID: 24922459 evidences that limb hypoplasia/limb reduction is observed in a small subset of EDS IV patients (5 unrelated cases), as well as talipes in a larger number, and occasionally facial clefts – all of which would be prenatally detectable features. Sources: Literature
31 May 2020	Fetal anomalies v1.73	NUP88	Julia Baptista gene: NUP88 was added gene: NUP88 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: NUP88 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NUP88 were set to PMID: 30543681 Phenotypes for gene: NUP88 were set to fetal akinesia Review for gene: NUP88 was set to RED Added comment: Bonnin et al reported biallelic variants in two unrelated families. A homozygous missense variant was identified in family A and the co-segregation data was supportive (tested 4 unaffected and 2 of the 4 affected fetuses). Compound heterozygous in-frame and nonsense variants were identified in the proband in family B (co-segregation studies in 2 unaffected sibs). The clinical features included fetal akinesia and arthrogryposis multiplex congenita. Polyhydramnios, muscle atrophy and dysmorphic features were also described. Sources: Literature
14 May 2020	Fetal anomalies v1.73	ITGA8	Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber awaiting GLH review. Additional phenotypes were reported in the fetuses and sibling (who died perinatally) from PMID:24439109 (clubbed feet, facial dysmorphism, pulmonary hypoplasia, bilateral cryptorchidism) although renal agenesis is the primary phenotype and only 2 families from one paper.
14 May 2020	Fetal anomalies v1.72	ITGA8	Rebecca Foulger changed review comment from: PMID:24439109, Humbert et al. (2014). In 3 fetuses of Roma Gypsy descent with bilateral renal hypodysplasia/aplasia-1, Humbert et al identified a homozygous T-to-C transition in intron 27 of the ITGA8 gene (c.2982+2T-C) leading to the skipping of exon 28 and an in-frame 34 amino acide deletion. 1 unaffected mother was heterozygous for the variant. All fetuses had bilateral renal agenesis and anhydramnios, resulting in death in utero. The authors also identified 2 siblings from West African with bilateral renal hypodysplasia/aplasia-1 and compound het variants in ITGA8 (Glu541AlafsTer12 and G407R). The missense variant was found once in the Exome Variant Server (1 in 13,005). One of the siblings was a fetus that aborted at gestational week 24 due to bilateral renal agenesis and anhydramnios. The second sibling died in the perinatal period.; to: PMID:24439109, Humbert et al. (2014). In 3 fetuses of Roma Gypsy descent with bilateral renal hypodysplasia/aplasia-1, Humbert et al identified a homozygous T-to-C transition in intron 27 of the ITGA8 gene (c.2982+2T-C) leading to the skipping of exon 28 and an in-frame 34 amino acide deletion. 1 unaffected mother was heterozygous for the variant. All fetuses had bilateral renal agenesis and anhydramnios, resulting in death in utero. The authors also identified 2 siblings from West African with bilateral renal hypodysplasia/aplasia-1 and compound het variants in ITGA8 (Glu541AlafsTer12 and G407R). The missense variant was found once in the Exome Variant Server (1 in 13,005). One of the siblings was a fetus that aborted at gestational week 24 due to bilateral renal agenesis and anhydramnios. The second sibling died in the perinatal period and presented with BRA and bilateral cryptorchidism.
14 May 2020	Fetal anomalies v1.71	ITGA8	Rebecca Foulger changed review comment from: PMID:24439109, Humbert et al. (2014). In 3 fetuses of Roma Gypsy descent with bilateral renal hypodysplasia/aplasia-1, Humbert et al identified a homozygous T-to-C transition in intron 27 of the ITGA8 gene (c.2982+2T-C) leading to the skipping of exon 28 and an in-frame 34 amino acide deletion. 1 unaffected mother was heterozygous for the varinat. All fetuses had bilateral renal agenesis and anhydramnios, resulting in death in utero. The authors also identified 2 siblings from West African with bilateral renal hypodysplasia/aplasia-1 and compound het variants in ITGA8 (Glu541AlafsTer12 and G407R). The missense variant was found once in the Exome Variant Server (1 in 13,005). One of the siblings was a fetus that aborted at gestational week 24 due to bilateral renal agenesis and anhydramnios. The second sibling died in the perinatal period.; to: PMID:24439109, Humbert et al. (2014). In 3 fetuses of Roma Gypsy descent with bilateral renal hypodysplasia/aplasia-1, Humbert et al identified a homozygous T-to-C transition in intron 27 of the ITGA8 gene (c.2982+2T-C) leading to the skipping of exon 28 and an in-frame 34 amino acide deletion. 1 unaffected mother was heterozygous for the variant. All fetuses had bilateral renal agenesis and anhydramnios, resulting in death in utero. The authors also identified 2 siblings from West African with bilateral renal hypodysplasia/aplasia-1 and compound het variants in ITGA8 (Glu541AlafsTer12 and G407R). The missense variant was found once in the Exome Variant Server (1 in 13,005). One of the siblings was a fetus that aborted at gestational week 24 due to bilateral renal agenesis and anhydramnios. The second sibling died in the perinatal period.
14 May 2020	Fetal anomalies v1.69	ITGA8	Rebecca Foulger commented on gene: ITGA8: PMID:24439109, Humbert et al. (2014). In 3 fetuses of Roma Gypsy descent with bilateral renal hypodysplasia/aplasia-1, Humbert et al identified a homozygous T-to-C transition in intron 27 of the ITGA8 gene (c.2982+2T-C) leading to the skipping of exon 28 and an in-frame 34 amino acide deletion. 1 unaffected mother was heterozygous for the varinat. All fetuses had bilateral renal agenesis and anhydramnios, resulting in death in utero. The authors also identified 2 siblings from West African with bilateral renal hypodysplasia/aplasia-1 and compound het variants in ITGA8 (Glu541AlafsTer12 and G407R). The missense variant was found once in the Exome Variant Server (1 in 13,005). One of the siblings was a fetus that aborted at gestational week 24 due to bilateral renal agenesis and anhydramnios. The second sibling died in the perinatal period.
14 May 2020	Fetal anomalies v1.68	REN	Rebecca Foulger commented on gene: REN: PMID:31736371. He et al., performed a study to identify the potentially pathogenic gene variants that contribute to the AR renal tubular dysgenesis (RTD) in an aborted fetus. WES was performed on the fetus and his parents. Compound heterozygous variants (c.963T>A, p.Y321X and c.492+1G>A splicing site mutation) were identified in the fetus, one inherited from each parent.
12 May 2020	Fetal anomalies v1.67	GREB1L	Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following curation of PMID:29100091 which presents additional fetal cases of renal agenesis and GREB1L variants. Sufficient evidence for association of GREB1L with kidney agenesis, and phenotype can present fetally.
12 May 2020	Fetal anomalies v1.65	GREB1L	Rebecca Foulger commented on gene: GREB1L: PMID:29100091. Tomasi et al., 2017. WES or targeted exome sequencing of 183 unrelated familial and/or severe CAKUT-affected case subjects, including 54 fetuses with BKA, led to the identification of 16 heterozygous variants in GREB1L. Fetal cases with bilateral kidney agenesis include p.Gln528Argfs*12 (also present in their alive brother with unilateral kidney agenesis) and splice variant c.4369−1G>C.
12 May 2020	Fetal anomalies v1.64	GREB1L	Rebecca Foulger gene: GREB1L was added gene: GREB1L was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GREB1L were set to 29261186 Phenotypes for gene: GREB1L were set to Renal hypodysplasia/aplasia 3, 617805; renal agenesis Added comment: Added to Fetal panel based on PMID:29261186 (Boissel et al., 2018) who performed WES in 101 fetuses or stillborns who presented prenatally with severe anomalies. In 2 cases presenting with renal agenesis, de novo variants in GREB1L were identified (p.A968V and p.S98X). Sources: Literature
12 May 2020	Fetal anomalies v1.60	ACE	Rebecca Foulger commented on gene: ACE: PMID:30058238 (Bhowmik et al., 2018) report a 32-week old fetus with severe early onset oligohydramnios. A similarly affected sibling was reported from a previous pregnancy. Exome sequencing revealed a homozygous 3' splice-site variant in intron 17 of ACE gene, which confirmed AR renal tubular dysgenesis. It also facilitated prenatal diagnosis in a subsequent pregnancy.
12 May 2020	Fetal anomalies v1.59	GJB2	Rebecca Foulger commented on gene: GJB2: Note that GJB2 is no longer present on the DD panel of Gene2Phenotype. All GJB2 phenotypes (May 2020) are associated with the Gene2Phenotype skin panel. Red rating is still appropriate for this Fetal panel.
07 May 2020	Fetal anomalies v1.57	PSAT1	Rebecca Foulger Added comment: Comment on list classification: Rated 'probable' for Neu-Laxova syndrome in Gene2Phenotype, but there are sufficient cases from the literature to support causation (6 families in PMID:25152457 and 1 Chinese family in PMID:31903955). Therefore updated rating from Amber to Green: Fetally-relevant phenotype and sufficient evidence.
07 May 2020	Fetal anomalies v1.54	PSAT1	Rebecca Foulger commented on gene: PSAT1: PMID:31903955 (Ni et al., 2019) report Chinese Neu-Laxova syndrome (NLS) patients from 2 families. Compound het PSAT1 variants R342W and Y70N were found in the proband from family 1. (PHGDH variants were identified in family 2).
07 May 2020	Fetal anomalies v1.54	PSAT1	Rebecca Foulger commented on gene: PSAT1: PMID:25152457. Acuna-Hidalgo et al., 2014 report a rare AR disorder with severe malformations leading to prenatal or early postnatal lethality (Neu-Laxova syndrome). They identified variants in PHGDH, PSAT1 and PSPH in individuals with NLS, including 6 families with 3 different missense and frameshift PSAT1 variants which segregated with the disease.
07 May 2020	Fetal anomalies v1.54	ATP1A2	Rebecca Foulger Added comment: Comment on list classification: Added to panel with Amber review by Zornitza Stark. Not yet associated with a disorder in Gene2Phenotype. 2 families reported in PMID:30690204 with a fetally-relevant phenotype (including fetal hydrops). Therefore rated Amber awaiting further cases.
07 May 2020	Fetal anomalies v1.53	ALG9	Rebecca Foulger Phenotypes for gene: ALG9 were changed from AR lethal skeletal dysplasia; ALG9-CDG; Congenital disorder of glycosylation, type Il, 608776; NIHF; hydops fetalis to Gillessen-Kaesbach-Nishimura syndrome, 263210; AR lethal skeletal dysplasia; ALG9-CDG; Congenital disorder of glycosylation, type Il, 608776; NIHF; hydops fetalis
07 May 2020	Fetal anomalies v1.52	ALG9	Rebecca Foulger changed review comment from: Comment on list classification: ALG9 congenital disorder of glycosylation disorder has a broad phenotype and can include non-immune hydrops/NIHF (PMID:26453364 and 31420886). Although the NIHF phenotype is not consistent, even within families carrying the same variant, there are additional prenatal phenotypes reported in the literature for ALG9 cases: 3 fetally-lethal cases of skeletal dysplasia in PMID:25966638, and an individual with multiple malformations detected prenatally in PMID:28932688. Overall: fetally-relevant phenotype and sufficient cases for inclusion on panel and have therefore increased rating from Amber to Green.; to: Comment on list classification: ALG9 congenital disorder of glycosylation has a broad phenotype and can include non-immune hydrops/NIHF (PMID:26453364 and 31420886). Although the NIHF phenotype is not consistent, even within families carrying the same variant, there are additional prenatal phenotypes reported in the literature for ALG9 cases: 3 fetally-lethal cases of skeletal dysplasia in PMID:25966638, and an individual with multiple malformations detected prenatally in PMID:28932688. Overall: fetally-relevant phenotype and sufficient cases for inclusion on panel and have therefore increased rating from Amber to Green.
07 May 2020	Fetal anomalies v1.52	ALG9	Rebecca Foulger Added comment: Comment on list classification: ALG9 congenital disorder of glycosylation disorder has a broad phenotype and can include non-immune hydrops/NIHF (PMID:26453364 and 31420886). Although the NIHF phenotype is not consistent, even within families carrying the same variant, there are additional prenatal phenotypes reported in the literature for ALG9 cases: 3 fetally-lethal cases of skeletal dysplasia in PMID:25966638, and an individual with multiple malformations detected prenatally in PMID:28932688. Overall: fetally-relevant phenotype and sufficient cases for inclusion on panel and have therefore increased rating from Amber to Green.
07 May 2020	Fetal anomalies v1.51	ALG9	Rebecca Foulger Phenotypes for gene: ALG9 were changed from ALG9-CDG; Congenital disorder of glycosylation, type Il, 608776; NIHF; hydops fetalis to AR lethal skeletal dysplasia; ALG9-CDG; Congenital disorder of glycosylation, type Il, 608776; NIHF; hydops fetalis
07 May 2020	Fetal anomalies v1.49	ALG9	Rebecca Foulger changed review comment from: PMID:28932688. Davis et al., 2017 review the literature for ALG9:CDG cases. They summarise 10 patients from 6 different families with one of four ALG9 variants. In addition to summarising the 3 patients from Tham et al (PMID:25966638) who died in utero , they report an additional patient with ALG9-CDH with a milder phenotype. Prenatally, dysmorphic features, renal cysts and cardiac malformations were detected. She had a homozygous variant in ALG9: p.Tyr287Cys.; to: PMID:28932688. Davis et al., 2017 review the literature for ALG9:CDG cases. They summarise 10 patients from 6 different families with one of four ALG9 variants. In addition to summarising the 3 patients from Tham et al (PMID:25966638) who died in utero, they report an additional patient with ALG9-CDH with a milder phenotype. Prenatally, dysmorphic features, renal cysts and cardiac malformations were detected. She had a homozygous variant in ALG9: p.Tyr287Cys.
07 May 2020	Fetal anomalies v1.49	ALG9	Rebecca Foulger commented on gene: ALG9: PMID:28932688. Davis et al., 2017 review the literature for ALG9:CDG cases. They summarise 10 patients from 6 different families with one of four ALG9 variants. In addition to summarising the 3 patients from Tham et al (PMID:25966638) who died in utero , they report an additional patient with ALG9-CDH with a milder phenotype. Prenatally, dysmorphic features, renal cysts and cardiac malformations were detected. She had a homozygous variant in ALG9: p.Tyr287Cys.
07 May 2020	Fetal anomalies v1.49	ALG9	Rebecca Foulger commented on gene: ALG9: PMID:25966638 (Tham et al) performed fetal autopsy on 3 affected fetuses who died in utero from 2 unrelated families (from Turkey and Iraq) with Gillessen-Kaesbach-Nishimura syndrome (AR lethal skeletal dysplasia). All patients were homozygous for a splicing variant in ALG9 (NM_024740.2: c.1173+2T>A).
07 May 2020	Fetal anomalies v1.49	ALG9	Rebecca Foulger Added comment: Comment on list classification: Inborn errors of glycosylation can be a cause of non‐immune hydrops fetalis. Although G2P has a 'probable' GDA rating, there is sufficient evidence to link ALG9 to a glycosylation disorder. Approx 20% of cases show non-immune hydrops fetalis (NIHF). In PMID:26453364, 1/10 patients had NIHF: the patient was one of 4 patients within a consanguineous family and hydrops was not reported for the other 3 cousins. 3/15 ALG9 families reported with hydrops in PMID:31420886. Since phenotype is inconsistent, have kept rating as Amber awaiting further clinical review as to whether there are sufficient cases for inclusion on Fetal anomalies panel.
07 May 2020	Fetal anomalies v1.46	ALG9	Rebecca Foulger commented on gene: ALG9: PMID:31420886 Makhamreh et al., 2020 provide a literature review of Nonimmune hydrops fetalis (NIHF) and congenital disorders of glycosylation. 3/15 families had NIHF and ALG9 variants (20%). Full text unavailable at time of curation.
07 May 2020	Fetal anomalies v1.46	ALG9	Rebecca Foulger commented on gene: ALG9: PMID:26453364. AlSubhi et al., 2016 summarise 6 patients with ALG9-CDG from the literature and report 4 additional patients from a large consanguineous family. Patient IV:3/patient4 (a male cousin of the index patient) presented with nonimmune hydrops fetalis diagnosed by fetal US at 28 weeks, and a novel homozygous variant p.E350K in the ALG9 gene. Table 2 doesn't list Hydrops in any of the previous patients.
05 May 2020	Fetal anomalies v1.45	AHCY	Rebecca Foulger Added comment: Comment on list classification: Added to panel and rated Amber by Zornitza Stark. Two unrelated families with hydrops reported (PMID:30121674, 20852937). Note that previous reports of AHCY deficiency do not include hydrops (e.g. PMID:15024124). Overall, phenotype is relevant to the panel but currently insufficient evidence for Green rating. Rated Amber awaiting further evidence.
05 May 2020	Fetal anomalies v1.44	AHCY	Rebecca Foulger commented on gene: AHCY: PMID:20852937. Grubbs et al., 2010 report 2 sisters born with fetal hydrops and compound het for 2 variants in AHCY (p.Arg49Cys and p.Asp86Gly). Phenotypes included severe hypotonia/myopathy, feeding problems, and respiratory failure. The sisters died age 25 days and 122 days.
05 May 2020	Fetal anomalies v1.43	SMG9	Rebecca Foulger Phenotypes for gene: SMG9 were changed from SMG9 Multiple Congenital Anomaly Syndrome to SMG9 Multiple Congenital Anomaly Syndrome; Heart and brain malformation syndrome, 616920
05 May 2020	Fetal anomalies v1.41	SMG9	Rebecca Foulger commented on gene: SMG9: PMID:31390136. Lecoquierre et al., 2019 performed exome sequencing in a patient with syndromic DD and diverse malformations including cleft lip and palate, facial dysmorphia, brain abnormalities, herat defect, growth retardation and severe infections. She carried a homozygous SMG9 variant, p.(Gln393*). Her unaffected parents were both heterozygous. Phenotypes were first noted in-utero: polyhydamnios, lateral cleft lip and palate, and IUGR noted on ultrasound.
05 May 2020	Fetal anomalies v1.41	SMG9	Rebecca Foulger commented on gene: SMG9: PMID:27018474. Shaheen et al, 2016 report 2 consanguineous families with different homozygous LOF variants in SMG9 and and a similar set of congenital anomalies including craniofacial dysmorphism, and major brain and heart malformations.
05 May 2020	Fetal anomalies v1.41	TUBA8	Rebecca Foulger Added comment: Comment on list classification: The reanalysis in PMID:28388629 casts doubt that TUBA8 is responsible for the morphological phenotypes initially reported in PMID:19896110. Only 2 families (of possible shared descent) were reported. Therefore insufficient evidence for Green rating. Downgraded from Green to Amber.
05 May 2020	Fetal anomalies v1.40	TUBA8	Rebecca Foulger commented on gene: TUBA8: In 4 affected members of 2 consanguineous Pakistani families with MIM:613180, Abdollahi et al. (2009, PMID:19896110) identified a homozygous 14-bp deletion 11 bp upstream of the exon 2 splice site junction in TUBA8. The families may have common ancestory. All obligate carriers were heterozygous. The patients had neonatal hypotonia, profound mental retardation, essentially no psychomotor development, optic nerve hypoplasia, and thickened cortex with polymicrogyria and absent corpus callosum. BUT due to lack of a mouse TUBA8 phenotype, the authors in PMID:28388629 (Diggle et al 2017) reanalysed their patients from PMID:19896110 and found an additional LOF variant in SNAP29 (p.Ser163Lysfs*6). The authors suggest that SNAP29 deficiency, rather than TUBA8 deficiency, may be responsible for the patient phenotypes.
05 May 2020	Fetal anomalies v1.37	PAICS	Rebecca Foulger Phenotypes for gene: PAICS were changed from Polyhydramnios; multiple congenital abnormalities to Polyhydramnios; multiple congenital abnormalities; early neonatal death
05 May 2020	Fetal anomalies v1.36	PAICS	Rebecca Foulger changed review comment from: PMID:31600779. Pelet et al. report an AR inborn error of de novo purine synthesis due to homozygous missense vairant in PAICS (c.158A>G; p.Lys53Arg) in 2 siblings from the Faroe islands. Catalytic activity of the mutant protein was approx 25% of wild type levels. The siblings had multiple malformations resulting in early neonatal death.; to: PMID:31600779. Pelet et al. report an AR inborn error of de novo purine synthesis due to homozygous missense variant in PAICS (c.158A>G; p.Lys53Arg) in 2 siblings from the Faroe islands. Catalytic activity of the mutant protein was approx 25% of wild type levels. The siblings had multiple malformations resulting in early neonatal death.
05 May 2020	Fetal anomalies v1.36	MSL3	Rebecca Foulger Phenotypes for gene: MSL3 were changed from MSL3 syndrome to MSL3 syndrome; Basilicata-Akhtar syndrome, 301032
04 May 2020	Fetal anomalies v1.32	FGF20	Rebecca Foulger gene: FGF20 was added gene: FGF20 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: FGF20 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FGF20 were set to 22698282; 23112089 Phenotypes for gene: FGF20 were set to ?Renal hypodysplasia/aplasia 2, 615721 Added comment: Added to Fetal panel based on literature search. PMID:22698282. Barak et al., 2012 identify a homozygous frameshift truncating variant (c.337delG) in FGF20, which segregated with the disorder in a consanguineous familly. Pregnancies showed anhydramnios and the fetuses had bilateral renal agenesis. All pregnancies were terminated. Mouse model shows loss of Fgf20 resulted in kidney agenesis. Additional papers report functional experiments (in mice) that confirm role of FGF20 in kidney development (e.g. PMID:23112089). Sources: Literature
30 Apr 2020	Fetal anomalies v1.30	EXOC3L2	Rebecca Foulger changed review comment from: PMID: 27894351: Shaheen et al., 2016 examined 371 individuals from 265 families with ciliopathy phenotypes. They identified a LOF variant in EXOC3L2 and a lethal phenotype that resembles Meckel–Gruber syndrome (severe posterior fossa malformation with kidney enlargement) in one family.; to: PMID: 27894351: Shaheen et al., 2016 examined 371 individuals from 265 families with ciliopathy phenotypes. They identified a LOF variant in EXOC3L2 and a lethal phenotype that resembles Meckel–Gruber syndrome (severe posterior fossa malformation with kidney enlargement) in one family (reviewed briefly in PMID:28749478).
30 Apr 2020	Fetal anomalies v1.30	EXOC3L2	Rebecca Foulger commented on gene: EXOC3L2: PMID: 27894351: Shaheen et al., 2016 examined 371 individuals from 265 families with ciliopathy phenotypes. They identified a LOF variant in EXOC3L2 and a lethal phenotype that resembles Meckel–Gruber syndrome (severe posterior fossa malformation with kidney enlargement) in one family.
30 Apr 2020	Fetal anomalies v1.28	EXOC3L2	Rebecca Foulger commented on gene: EXOC3L2: PMID: 28749478: Shamseldin et al., 2018 performed exome sequencing as part of molecular autopsy in a cohort of 44 families with at least one death or lethal fetal malformation. They report one fetus with a biallelic EXOC3L2 variant and a phenotype similar to Meckel-Gruber syndrome.
30 Apr 2020	Fetal anomalies v1.28	EXOC3L2	Rebecca Foulger gene: EXOC3L2 was added gene: EXOC3L2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: EXOC3L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EXOC3L2 were set to 30327448 Phenotypes for gene: EXOC3L2 were set to Dandy-Walker malformation Added comment: Added to panel based on PMID:30327448: Shalata et al., 2019 report 3 fetuses from a family with homozygous variants in EXOC3L2 (missense p.Leu41Gln) and severe forms of Dandy-Walker that were detectable by prenatal ultrasound. Sources: Literature
30 Apr 2020	Fetal anomalies v1.27	DHCR7	Rebecca Foulger commented on gene: DHCR7: PMID:31840946 (Schoner et al., 2020) performed autopsies and DHCR7 gene analyses in 8 fetuses suspected of having SLOS. 5/9 fetuses presented with classic SLOS features including 4 with atrial/atrioventricular septal defects and renal anomalies, and one with additional bilateral renal agenesis and a Dandy-Walker cyst. Two fetuses were mildly affected and two fetuses showed additional holoprosencephaly. DHCR7 variants were confirmed in cases 1-5 and 7.
29 Apr 2020	Fetal anomalies v1.26	POLE	Rebecca Foulger changed review comment from: Comment on list classification: Updated rating from Amber to Green: Multiple cases of IUGR from 2 papers (PMID:25948378 and PMID:30503519). Phenotype relevant to panel, and sufficient evidence to support causation.; to: Comment on list classification: Originally added to panel as Amber based on PMID:30503519. Updated rating from Amber to Green with curation of additional paper PMID:25948378 who report a separate individual with IUGR. Phenotype relevant to panel, and sufficient evidence to support causation.
29 Apr 2020	Fetal anomalies v1.22	POLE	Rebecca Foulger commented on gene: POLE: PMID:25948378 (Thiffault et al., 2015) report a girl homozygous for a splice variant in POLE1 (c.4444 + 3A > G). Fetal anomalies on the ultrasound included intrauterine growth restriction, short long bones, suspected skull abnormalities nad oligohydamnios.
29 Apr 2020	Fetal anomalies v1.20	POLE	Rebecca Foulger gene: POLE was added gene: POLE was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: POLE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLE were set to 23230001 Phenotypes for gene: POLE were set to IUGR; severe growth failure of prenatal onset Added comment: Added to panel based on prenatal phenotype reported in PMID:30503519: (Logan et al., 2018) report biallelic variants in POLE in 15 indivs from 12 families (mix of countries). All subjects shared the same intronic variant (c.1686+32C>G) as part of a common haplotype, in combination with different loss-of-function variants in trans. Phenotypically, affected individuals all had IUGR and severe growth failure of prenatal onset. Sources: Literature
28 Apr 2020	Fetal anomalies v1.14	MYH11	Rebecca Foulger Added comment: Comment on mode of inheritance: Set mode of inheritance to BIALLELIC to match papers: compound het and homozygous MYH11 variants associated with MMIH.
25 Apr 2020	Fetal anomalies v1.7	PAICS	Zornitza Stark gene: PAICS was added gene: PAICS was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PAICS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PAICS were set to 31600779 Phenotypes for gene: PAICS were set to Polyhydramnios; multiple congenital abnormalities Review for gene: PAICS was set to RED Added comment: Two sibs from single family reported with homozygous missense variant. Functional data to demonstrate effect on protein function. Sources: Literature
21 Apr 2020	Fetal anomalies v1.6	CEP55	Rebecca Foulger Added comment: Comment on list classification: Added gene to panel as Green: MARCH phenotype is appropriate for fetal panel, and 3 unrelated fetal cases reported in literature. Not yet associated with a disorder in Gene2Phenotype.
21 Apr 2020	Fetal anomalies v1.4	CEP55	Rebecca Foulger changed review comment from: PMID:30622327 (Rawlins et al., 2019) report a novel homozygous founder frameshift variant(p.Ile172Asnfs17) in CEP55 in 2 siblings presenting with a lethal fetal disorder including cystic dysplastic kidneys. The variant is present at low frequency in the Amish community.; to: PMID:30622327 (Rawlins et al., 2019) report a novel homozygous founder frameshift variant (p.Ile172Asnfs17) in CEP55 in 2 siblings presenting with a lethal fetal disorder including cystic dysplastic kidneys. The variant is present at low frequency in the Amish community.
21 Apr 2020	Fetal anomalies v1.4	CEP55	Rebecca Foulger commented on gene: CEP55: PMID:30622327 (Rawlins et al., 2019) report a novel homozygous founder frameshift variant(p.Ile172Asnfs*17) in CEP55 in 2 siblings presenting with a lethal fetal disorder including cystic dysplastic kidneys. The variant is present at low frequency in the Amish community.
21 Apr 2020	Fetal anomalies v1.4	CEP55	Rebecca Foulger commented on gene: CEP55: PMID:28295209. Bondeson et al report a Swedish couple with 2 affected male fetuses homozygous for CEP55 p.Arg86*. Although the phenotype differed between fetuses, both exhibited kidney phenotypes (including renal dysplaisa). Segregation analysis supported the gene:disease association, and Haplotype analysis suggested a founder effect.
21 Apr 2020	Fetal anomalies v1.4	CEP55	Rebecca Foulger commented on gene: CEP55: PMID:28264986: Frosk et al, 2017 report a Dutch-German Mennonite family with 3 affected fetuses homozygous for CEP55 nonsense variant p.Ser425* presenting with MIM:236500 including renal dysplasia.
21 Apr 2020	Fetal anomalies v1.4	CEP55	Rebecca Foulger gene: CEP55 was added gene: CEP55 was added to Fetal anomalies. Sources: Other Mode of inheritance for gene: CEP55 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CEP55 were set to 28264986; 28295209 Phenotypes for gene: CEP55 were set to Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500; lethal CEP55-related syndromes Added comment: Added to Fetal anomalies panel on advice from Helen Brittain, Genomics England Clinical Team. MARCH phenotype is appropriate for this panel. Sources: Other
27 Feb 2020	Fetal anomalies v1.3	SMG9	Zornitza Stark reviewed gene: SMG9: Rating: GREEN; Mode of pathogenicity: None; Publications: 27018474, 31390136; Phenotypes: Heart and brain malformation syndrome, MIM# 616920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
30 Dec 2019	Fetal anomalies v1.0	ATP1A2	Zornitza Stark gene: ATP1A2 was added gene: ATP1A2 was added to Fetal anomalies. Sources: Expert list Mode of inheritance for gene: ATP1A2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ATP1A2 were set to 30690204 Phenotypes for gene: ATP1A2 were set to hydrops fetalis; microcephaly; arthrogryposis; extensive cortical malformations Review for gene: ATP1A2 was set to AMBER gene: ATP1A2 was marked as current diagnostic Added comment: Three individuals from two unrelated families reported with balleliic LoF variants in this gene and hydrops/congenital abnormalities. Mouse model is perinatal lethal. This is a distinct phenotype from the mono allelic variants associated with alternating hemiplegia. Sources: Expert list
12 Dec 2019	Fetal anomalies v0.375		Rebecca Foulger Panel types changed to GMS Rare Disease Virtual; GMS signed-off
12 Dec 2019	Fetal anomalies v0.374	SHOX	Eleanor Williams Added comment: Comment on mode of inheritance: Updating mode of inheritance as monoallelic cases tend to be milder e.g. familial short stature / Leri-Weill, whereas biallelic are more severe (Langer mesomelic dysplasia).
05 Dec 2019	Fetal anomalies v0.371	ADNP	Rebecca Foulger changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Can have congenital heart defects.
29 Nov 2019	Fetal anomalies v0.369	BICD2	Rebecca Foulger Phenotypes for gene: BICD2 were changed from PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; arthrogryposis multiplex congenita (AMC); reduced fetal movements; hydrops fetalis to PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; arthrogryposis multiplex congenita (AMC); reduced fetal movements; hydrops fetalis; Pterygium
29 Nov 2019	Fetal anomalies v0.368	BICD2	Rebecca Foulger Phenotypes for gene: BICD2 were changed from PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291 to PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291; arthrogryposis multiplex congenita (AMC); reduced fetal movements; hydrops fetalis
29 Nov 2019	Fetal anomalies v0.367	BICD2	Rebecca Foulger commented on gene: BICD2: PMID:28635954 (Storbeck et al., 2017) describe 3 individuals of independent families with severe severe arthrogryposis multiplex congenita (AMC), respiratory insufficiency, and early lethality caused by three BICD2 variants (p.Arg694Cys, p.Gln194Arg and p.Cys542Trp, 2 of which are proven to be de novo). They also describe an asymptomatic women with subclinical findings with the previously described p.(Thr703Met) variant.
29 Nov 2019	Fetal anomalies v0.367	BICD2	Rebecca Foulger commented on gene: BICD2: PMID:29274205 (Ahmed et al., 2018) report a stillborn female fetus (case 4) with pterygia and arthrogryposis with a heterozygous likely-pathogenic variant in BICD2. Phenotypes included an abnormal fetal position with fixed limbs, hydrops fetalis and polyhydramnios. A heterozygous p.Asn700Lys variant in BICD2 was revealed. However, compound het variants of unknown significance in AGRN were also identified, so the authors can not be certain that BICD2 is the causative variant.
29 Nov 2019	Fetal anomalies v0.367	BICD2	Rebecca Foulger commented on gene: BICD2: PMID:27751653 (Ravenscroft et al., 2016) report two unrelated probands (a German male and a boy from a Welsh mother and NZ/European father) that presented in utero with reduced fetal movement. Both cases had arthrogryposis multiplex congenita (AMC) and hypotonia diagnosed at birth. The same missense de novo variant in BICD2 (p.Arg694Cys) was present in both probands.
29 Nov 2019	Fetal anomalies v0.366	BICD2	Rebecca Foulger Phenotypes for gene: BICD2 were changed from PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE to PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE; Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291
28 Nov 2019	Fetal anomalies v0.359	KLF1	Rebecca Foulger Added comment: Comment on mode of inheritance: Updated MOI from 'Monoallelic' to 'BOTH AD+AR' (after agreement from Rhiannon Mellis, GOSH), to match the MOI on the Fetal hydrops v.1.16 panel. The expanded MOI is based on compound heterozygous cases in PMID:25724378 and PMID:28361594.
28 Nov 2019	Fetal anomalies v0.358	CRYBB1	Rebecca Foulger Phenotypes for gene: CRYBB1 were changed from CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3 to CATARACT 17, MULTIPLE TYPES; CATARACT 17, MULTIPLE TYPES, MONOALLELIC; CATARACT, CONGENITAL NUCLEAR, AUTOSOMAL RECESSIVE 3
28 Nov 2019	Fetal anomalies v0.357	CRYBB1	Rebecca Foulger Added comment: Comment on mode of inheritance: Although the 'confirmed' disorder in DDG2P has 'monoallelic' inheritance (and 'probable' rating for the biallelic disorders), have kept the MOI as 'both AD and AR' on the fetal panel so all cataract cases are picked up.
27 Nov 2019	Fetal anomalies v0.355	FBN1	Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'Both AD + AR' to 'MONOALLELIC' only to match current DDG2P Allelic requirement of 'monoallelic' for all confirmed disorders (SHPRINTZEN-GOLDBERG CRANIOSYNOSTOSIS SYNDROME; MARFAN SYNDROME; MASS SYNDROME/OVERLAP CONNECTIVE TISSUE DISEASE).
21 Nov 2019	Fetal anomalies v0.352	SCO2	Rebecca Foulger commented on gene: SCO2: PMID:18924171 (Verdijk et al, 2008) report the first prenatal diagnosis of a compound heterozygous SCO2 variant in the literature. The sibling died of fatal infantile cardioencephalomyopathy.
21 Nov 2019	Fetal anomalies v0.350	SIK3	Rebecca Foulger Added comment: Comment on list classification: Added SIK3 to panel as a Green gene following communication with Rhiannon Mellis. A mouse model (PMID:22318228) provides additional support: mice show skeletal anomalies (plus dwarfism postnatally).
24 Oct 2019	Fetal anomalies v0.345	FAM58A	Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from MONOALLELIC to X-linked dominant. Although monoallelic inheritance is currently listed in DDG2P for STAR SYNDROME, FAM58A (CCNQ) is an X-linked gene.
17 Sep 2019	Fetal anomalies v0.343	NMNAT2	Rebecca Foulger commented on gene: NMNAT2: PMID:31132363, Huppke et al., 2019 report a homozygous missense variant (c.281C>T (T94M) in NMNAT2 in 2 siblings with childhood onset polyneuropathy with erythromelalgia: symptoms were first seen age 4.
17 Sep 2019	Fetal anomalies v0.342	ANAPC1	Rebecca Foulger commented on gene: ANAPC1: Added ANAPC1 to the Fetal anomalies panel and rated Green on approval from Anna de Burca and Richard Scott (Genomics England Clinical team). Note yet associated with a disorder in OMIM but evidence comes from PMID:31303264 (Ajeawung et al., 2019) where they report 10 individuals (7 families including 3 families of Amish ancestry) with Rothmund-Thomson Syndrome Type 1 and biallelic variants in ANAPC1. Phenotype includes skeletal abnormalities and short stature. All individuals carried an intronic splicing variant (NM_022662.3:c.2705−198C>T): in 3 Amish families plus individual 4, this intronic variant was found in a homozygous state. In the remaining families, the intronic variant was found in trans with one of three other LOF variants. Therefore sufficient cases to support a Green rating plus fetally-relevant phenotype.
11 Sep 2019	Fetal anomalies v0.341	NMNAT2	Michael Coleman gene: NMNAT2 was added gene: NMNAT2 was added to Fetal anomalies. Sources: Research Mode of inheritance for gene: NMNAT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NMNAT2 were set to PMID: 31136762 Phenotypes for gene: NMNAT2 were set to hydrops fetalis; cystic hygroma; bilateral hypoplastic lungs; hydrocephalus; hypoplastic cerebellum; severely reduced skeletal muscle mass or absence; flexion contractures of all extremities; micrognathia; cleft palate; hydropic placenta Penetrance for gene: NMNAT2 were set to Complete Review for gene: NMNAT2 was set to GREEN Added comment: Closely related phenotype in homozygous null mouse (PMID 23946398) Sources: Research
06 Sep 2019	Fetal anomalies v0.339	ARSE	Louise Daugherty Tag new-gene-name tag was added to gene: ARSE.
06 Sep 2019	Fetal anomalies v0.339	ARSE	Louise Daugherty commented on gene: ARSE
06 Sep 2019	Fetal anomalies v0.339	IARS	Louise Daugherty commented on gene: IARS
06 Sep 2019	Fetal anomalies v0.339	QARS	Louise Daugherty Tag new-gene-name tag was added to gene: QARS.
06 Sep 2019	Fetal anomalies v0.339	QARS	Louise Daugherty commented on gene: QARS
06 Sep 2019	Fetal anomalies v0.339	KARS	Louise Daugherty Tag new-gene-name tag was added to gene: KARS.
06 Sep 2019	Fetal anomalies v0.339	KARS	Louise Daugherty commented on gene: KARS
06 Sep 2019	Fetal anomalies v0.339	AARS	Louise Daugherty Tag new-gene-name tag was added to gene: AARS.
06 Sep 2019	Fetal anomalies v0.339	AARS	Louise Daugherty commented on gene: AARS
06 Sep 2019	Fetal anomalies v0.339	DARS	Louise Daugherty Tag new-gene-name tag was added to gene: DARS.
06 Sep 2019	Fetal anomalies v0.339	DARS	Louise Daugherty commented on gene: DARS: Added new-gene-name tag, new approved HGNC gene symbol for DARS is DARS1
06 Sep 2019	Fetal anomalies v0.339	DARS	Louise Daugherty commented on gene: DARS
12 Aug 2019	Fetal anomalies v0.337	SASS6	Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber to match 'possible' Disease confidence rating in PAGE Additional genes list. Note that SASS6 is not currently associated with a disorder in Gene2Phenotype. Associated with OMIM disorder: ?Microcephaly 14, primary, autosomal recessive, 616402' based on 1 reported family.
12 Aug 2019	Fetal anomalies v0.333	SMARCAL1	Rebecca Foulger changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SMARCAL1 gene rating from Green to Red.; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: IUGR can present but is not severe. Action taken: Demoted SMARCAL1 gene rating from Green to Red.
12 Aug 2019	Fetal anomalies v0.333	MFSD8	Rebecca Foulger commented on gene: MFSD8: Kept rating of MFSD8 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team).
12 Aug 2019	Fetal anomalies v0.333	VPS13B	Rebecca Foulger changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: As RM notes: Cerebellar hypoplasia has definitely been reported as a possible feature (PMID:20683995) and that could be detectable prenatally: keep on the Fetal anomalies panel as a Green gene.; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: RM notes that Cerebellar hypoplasia has definitely been reported as a possible feature (PMID:20683995) and that could be detectable prenatally: keep on the Fetal anomalies panel as a Green gene.
12 Aug 2019	Fetal anomalies v0.333	VPS13B	Rebecca Foulger changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Cerebellar hypoplasia has definitely been reported as a possible feature (PMID:20683995) and that could be detectable prenatally: keep on the Fetal anomalies panel as a Green gene.; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: As RM notes: Cerebellar hypoplasia has definitely been reported as a possible feature (PMID:20683995) and that could be detectable prenatally: keep on the Fetal anomalies panel as a Green gene.
12 Aug 2019	Fetal anomalies v0.332	VPS13B	Rebecca Foulger commented on gene: VPS13B: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Cerebellar hypoplasia has definitely been reported as a possible feature (PMID:20683995) and that could be detectable prenatally: keep on the Fetal anomalies panel as a Green gene.
12 Aug 2019	Fetal anomalies v0.332	GALC	Rebecca Foulger Added comment: Comment on list classification: Promoted GALC from Red to Green based on review by Anna de Burca, and agreement from Rhiannon Mellis (GOSH) and Richard Scott (Genomics England Clinical team).
12 Aug 2019	Fetal anomalies v0.331	KCTD7	Rebecca Foulger commented on gene: KCTD7: Kept rating of KCTD7 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team).
12 Aug 2019	Fetal anomalies v0.331	CLN8	Rebecca Foulger commented on gene: CLN8: Kept rating of CLN8 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team).
12 Aug 2019	Fetal anomalies v0.331	CLN5	Rebecca Foulger commented on gene: CLN5: Kept rating of CLN5 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team).
12 Aug 2019	Fetal anomalies v0.331	CLN3	Rebecca Foulger commented on gene: CLN3: Kept rating of CLN3 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team).
12 Aug 2019	Fetal anomalies v0.331	TPP1	Rebecca Foulger commented on gene: TPP1: Kept rating of TPP1 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team).
12 Aug 2019	Fetal anomalies v0.331	PPT1	Rebecca Foulger commented on gene: PPT1: Kept rating of PPT1 as Red, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team).
12 Aug 2019	Fetal anomalies v0.331	CTSD	Rebecca Foulger commented on gene: CTSD: Kept rating of CTSD as Green, following review of Neuronal ceroid lipofuscinosis genes by Richard Scott (Genomics England clinical team).
12 Aug 2019	Fetal anomalies v0.329	PDHA1	Rebecca Foulger commented on gene: PDHA1: Kept rating of PDHA1 as Green based on Green review by Anna de Burca, and agreement with Richard Scott from the Genomics England Clinical team.
12 Aug 2019	Fetal anomalies v0.329	PTEN	Rebecca Foulger changed review comment from: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: No structural features. Demote from Green to Red. ; to: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Hydrocephalus is very unusual, and PTEN is on the Hydrocephalus panel because of the macrocephaly phenotype. Demote from Green to Red.
08 Aug 2019	Fetal anomalies v0.328	SLC4A4	Rebecca Foulger commented on gene: SLC4A4: SLC4A4 was re-reviewed by Anna de Burca (Genomics England clinical team) to determine if patients presented with cataracts. Anna notes that there aren’t very many published cases and not all had cataracts. Of those that did, PMID:16636648 cataracts were definitely not congenital and in PMID:11131345 they were only picked up at 4 years so probably not congenital either. Therefore appropriate to remain Red.
05 Aug 2019	Fetal anomalies v0.327	IARS	Sarah Leigh Tag new-gene-name tag was added to gene: IARS.
05 Aug 2019	Fetal anomalies v0.327	IARS	Sarah Leigh commented on gene: IARS
01 Aug 2019	Fetal anomalies v0.326	TRPV6	Rebecca Foulger Added comment: Comment on list classification: Added to panel as Amber based on 'probable' Disease confidence in DDG2P for Transient Neonatal Hyperparathyroidism. Upgraded to Green on advice from Anna de Burca (Genomics England Clinical team) and Rhiannon Mellis (Great Ormond Street Hospital). They note that anomalies may be detected on third trimester scans but actually have a better prognosis in the long term so important diagnostically, and a differential diagnosis for Osteogenesis imperfecta. Plus Helen Brittain (Genomics England Clinical team) has reviewed on TRPV6 on the Skeletal dysplasia panel and notes: "6 unrelated children with skeletal abnormalities detected in the third trimester of pregnancy, who presented at birth with elevated serum PTH and alkaline phosphatase activity, with normal or low ionized calcium. Skeletal anomalies included generalized osteopenia, narrow chest, short ribs with multiple healing fractures, and bowing or fractures of long bones". Therefore sufficient cases and relevant phenotype for inclusion on the Fetal anomalies panel.
01 Aug 2019	Fetal anomalies v0.324	TRPV6	Rebecca Foulger gene: TRPV6 was added gene: TRPV6 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRPV6 were set to 29861107 Phenotypes for gene: TRPV6 were set to Transient Neonatal Hyperparathyroidism; Hyperparathyroidism, transient neonatal, 618188 Review for gene: TRPV6 was set to AMBER Added comment: New gene:disorder association added to DDG2P in March 2019: Transient Neonatal Hyperparathyroidism. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic. Sources: Literature
25 Jul 2019	Fetal anomalies v0.318	PIK3R2	Rebecca Foulger edited their review of gene: PIK3R2: Changed rating: GREEN; Changed phenotypes: Megalencephaly, neuronal migrational anomaly, congenital heart defect, heterotopias
25 Jul 2019	Fetal anomalies v0.318	IARS	Rebecca Foulger edited their review of gene: IARS: Changed rating: GREEN
25 Jul 2019	Fetal anomalies v0.318	ARL13B	Rebecca Foulger edited their review of gene: ARL13B: Changed rating: GREEN
25 Jul 2019	Fetal anomalies v0.318	MYH10	Rebecca Foulger Added comment: Comment on mode of inheritance: MYH10 is listed in DDG2P with a 'possible' Disease confidence rating and a monoallelic mode of inheritance/allelic requirement. Mutation consequence summary/MOP: loss of function.
25 Jul 2019	Fetal anomalies v0.316	INTU	Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/compound het variant identified in Normand et al., 2018 (PMID:30266093) and MIM:617925/617926.
25 Jul 2019	Fetal anomalies v0.315	FRMD4A	Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/homozygous variant identified in Normand et al., 2018 (PMID:30266093) and MIM:616819.
25 Jul 2019	Fetal anomalies v0.314	EIF2B2	Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/compound het variant identified in Normand et al., 2018 (PMID:30266093) and MIM:2603896.
25 Jul 2019	Fetal anomalies v0.313	DOK7	Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/compound het variant identified in Normand et al., 2018 (PMID:30266093) and MIM:254300.
25 Jul 2019	Fetal anomalies v0.312	NDUFAF5	Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/compound het variant identified in Normand et al., 2018 (PMID:30266093) and MIM:618238.
25 Jul 2019	Fetal anomalies v0.311	DOK7	Rebecca Foulger changed review comment from: This gene was added to the panel following review by Anna de Burca (Genomics England Clinical Team) and a Fetal Working Group call on July 19th 2019 with Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate Green because of finding in Normand et al., 2018 (PMID:30266093) plus additional case. Anna de Burca notes that DOK7 is Green on the Arthrogryposis panel - there seems to be quite variable severity but at least one case of arthrogryposis has been reported, so 2 cases if Normand et al included (doesnt decribe phenotype).; to: This gene was added to the panel following review by Anna de Burca (Genomics England Clinical Team) and a Fetal Working Group call on July 19th 2019 with Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate Green because of finding in Normand et al., 2018 (PMID:30266093) plus additional case. Anna de Burca notes that DOK7 is Green on the Arthrogryposis panel - there seems to be quite variable severity but at least one case of arthrogryposis has been reported, so 2 cases if Normand et al included (doesn't describe phenotype).
25 Jul 2019	Fetal anomalies v0.311	GATA2	Rebecca Foulger edited their review of gene: GATA2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and Sahar Mansour. Outcome of review: Sahar has seen hydrops in Emberger syndrome - Green.; Changed rating: GREEN
25 Jul 2019	Fetal anomalies v0.311	MSH2	Rebecca Foulger edited their review of gene: MSH2: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate all Lynch syndrome genes as Red.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	MSH6	Rebecca Foulger edited their review of gene: MSH6: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate all Lynch syndrome genes as Red.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	MLH1	Rebecca Foulger edited their review of gene: MLH1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate all Lynch syndrome genes as Red.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	ABCD4	Rebecca Foulger commented on gene: ABCD4: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Table 4). Although ABCD4 (CblJ complementation group) is associated with congenital heart disease in PMID:20301503, the Disease confidence rating in Gene2Phenotype is 'probable' with two compound het cases listed in OMIM. Therefore kept rating as Amber awaiting further evidence.
25 Jul 2019	Fetal anomalies v0.311	PTEN	Rebecca Foulger edited their review of gene: PTEN: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: No structural features. Demote from Green to Red. ; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	ABCC8	Rebecca Foulger edited their review of gene: ABCC8: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and Karen Temple. Outcome of review: Growth restriction is less marked but queried whether hyperinsulinaemia might cause features that would be picked up on scan. Rate as Red.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	MRPS22	Rebecca Foulger edited their review of gene: MRPS22: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: Yates et al study (PMID:28425981) pulled out a pathogenic variant in MRPS22 in a deceased fetal case with Hydrops, CNS malformations and cardiomyopathy picked up on U/S scan. Additional info from OMIM: A boy with oxidative phosphorylation defect in PMID:21189481 who had microcephaly, dysmorphic features etc at birth. 3 siblings in PMID:17873122. Therefore if include Yates et al, there are 3 cases. ; Changed rating: GREEN; Changed publications: 17873122, 21189481
25 Jul 2019	Fetal anomalies v0.311	SCN2A	Rebecca Foulger edited their review of gene: SCN2A: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: 2 reports of cortical malformations, one with ventriculomegaly: PMID:31204721,28254201. no reports of arthrogryposis. Plus finding in Petrovski et al., 2019 (PMID:30712878).; Changed rating: GREEN; Changed publications: 31204721, 28254201
25 Jul 2019	Fetal anomalies v0.311	RAC1	Rebecca Foulger edited their review of gene: RAC1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and a Fetal Working Group call on July 19th 2019 with Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate Green because of finding in Petrovski et al., 2018 (PMID:30712878) plus additional case: Anna de Burca notes: Petrovski case had Dandy-Walker malformation and IUGR. 2 other reported cases: cerebellar anomalies and 2 different cases in same paper had signficant macrocephaly. Therefore 3 cases with structural brain anomalies if Petrovski included.; Changed rating: GREEN
25 Jul 2019	Fetal anomalies v0.311	ACTA1	Rebecca Foulger edited their review of gene: ACTA1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate Green because of finding in Normand et al., 2018 (PMID:30266093) plus additional case: Normand doesn't give any details of the clinical presentation. OMIM says the 'severe form' is associated with arthrogryposis. PMID:2724277 describes brothers with a heterozygous variant who presented antenatally with severe polyhydramnios and reduced fetal movements, postnatally were found to have arthrogryoposis. Parents were second cousins so might have been a missed second variant. PMID:11333380 reports 5 cases with heterozygous variants, some of which were born with severe hypotonia although the only antenatal feature was reduced fetal movements. Rate as Green for AD and AR as evident clinical variability.; Changed rating: GREEN; Changed publications: 2724277, 11333380
25 Jul 2019	Fetal anomalies v0.311	TCTN2	Rebecca Foulger edited their review of gene: TCTN2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and at a Fetal Working Group call on July 19th 2019. Outcome of review: Rate Green because of diagnostic finding in PAGE study (PMID:30712880) plus additional case. There are 3 reported unrelated families with Joubert syndrome and 3 with Meckel syndrome (all homozygous variants in consanguineous families: PMIDs 21565611, 25118024, 21462283). PMID:25118024 comments that all cases have cerebellar vermis hypoplasia.; Changed rating: GREEN; Changed publications: 21565611, 25118024 & 21462283
25 Jul 2019	Fetal anomalies v0.311	BRAT1	Rebecca Foulger edited their review of gene: BRAT1: Added comment: Upgraded from Amber to Green following advice from Anna de Burca (Genomics England clinical team). Probable rating in Gene2Phenotype for 'Rigidity and multifocal seizure syndrome, lethal neonatal' but sufficient cases in OMIM for inclusion. (e.g. Saunders et al., 2012, PMID:23035047). Although the main phenotypes are neurological, there are some structural features in some patients.; Changed rating: GREEN; Changed publications: 23035047
25 Jul 2019	Fetal anomalies v0.311	CNOT1	Rebecca Foulger edited their review of gene: CNOT1: Added comment: Upgraded from Amber to Green following advice from Anna de Burca (Genomics England clinical team) and a Fetal Working Group call on July 19th 2019. Phenotypes are relevant to this panel (holoprosencephaly and pancreatic agenesis), sufficient cases (4/5), although phenotype may be variant-specific.; Changed rating: GREEN
25 Jul 2019	Fetal anomalies v0.311	SBDS	Rebecca Foulger edited their review of gene: SBDS: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: Shwachman-Diamond syndrome: skeletal defects usually develop within first 2 years but PMID:23254443 reports a case with prenatal onset of short limbs. Therefore Green rating is appropriate.; Changed rating: GREEN; Changed publications: 23254443
25 Jul 2019	Fetal anomalies v0.311	TCF20	Rebecca Foulger edited their review of gene: TCF20: Added comment: As agreed with Anna de Burca (Genomics England Clinical team): Keep TCF20 as Amber: the structural phenotypes are variable (and largely mild). All individuals have ID/DD but the accompanying dysmorphic features are inconsistent, and the authors suggest additional genes may be responsible/modifying- some of the patients had variants in additional genes (or the phenotypes might be very very rare).; Changed publications: 30739909, 30819258
25 Jul 2019	Fetal anomalies v0.311	GAA	Rebecca Foulger edited their review of gene: GAA: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Green-PMID:28657663 has prenatal onset of cardiomyopathy.; Changed rating: GREEN; Changed publications: 28657663
25 Jul 2019	Fetal anomalies v0.311	TTC19	Rebecca Foulger edited their review of gene: TTC19: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	TMEM70	Rebecca Foulger edited their review of gene: TMEM70: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED; Changed publications: 18953340
25 Jul 2019	Fetal anomalies v0.311	TMEM126B	Rebecca Foulger edited their review of gene: TMEM126B: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	TK2	Rebecca Foulger edited their review of gene: TK2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	SURF1	Rebecca Foulger edited their review of gene: SURF1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	SLC25A26	Rebecca Foulger edited their review of gene: SLC25A26: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	SDHAF1	Rebecca Foulger edited their review of gene: SDHAF1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	SDHA	Rebecca Foulger edited their review of gene: SDHA: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	SCO2	Rebecca Foulger edited their review of gene: SCO2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Include on the Fetal anomalies panel as a Green gene. Mitochondrial disorder, and PMID:15210538 show early onset cardiomyopathy and two pregnancy losses.; Changed rating: GREEN; Changed publications: 15210538
25 Jul 2019	Fetal anomalies v0.311	SCO1	Rebecca Foulger edited their review of gene: SCO1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	POLG	Rebecca Foulger edited their review of gene: POLG: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	PNPT1	Rebecca Foulger edited their review of gene: PNPT1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	PDSS2	Rebecca Foulger edited their review of gene: PDSS2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	PDHX	Rebecca Foulger edited their review of gene: PDHX: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	PC	Rebecca Foulger edited their review of gene: PC: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	NFU1	Rebecca Foulger edited their review of gene: NFU1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	NDUFV1	Rebecca Foulger edited their review of gene: NDUFV1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	NDUFS8	Rebecca Foulger edited their review of gene: NDUFS8: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	NDUFS7	Rebecca Foulger edited their review of gene: NDUFS7: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	NDUFS4	Rebecca Foulger edited their review of gene: NDUFS4: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	NDUFS1	Rebecca Foulger edited their review of gene: NDUFS1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	NDUFA1	Rebecca Foulger edited their review of gene: NDUFA1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	MT-TP	Rebecca Foulger edited their review of gene: MT-TP: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	MPV17	Rebecca Foulger edited their review of gene: MPV17: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	LRPPRC	Rebecca Foulger edited their review of gene: LRPPRC: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	FARS2	Rebecca Foulger edited their review of gene: FARS2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	DLD	Rebecca Foulger edited their review of gene: DLD: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	COX6B1	Rebecca Foulger edited their review of gene: COX6B1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	COX15	Rebecca Foulger edited their review of gene: COX15: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	COX10	Rebecca Foulger edited their review of gene: COX10: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	COQ8A	Rebecca Foulger edited their review of gene: COQ8A: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
25 Jul 2019	Fetal anomalies v0.311	COQ2	Rebecca Foulger edited their review of gene: COQ2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED; Changed publications: 23816342
25 Jul 2019	Fetal anomalies v0.311	BCS1L	Rebecca Foulger edited their review of gene: BCS1L: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Include on the Fetal anomalies panel as a Green gene. Mitochondrial disorder, and severe IUGR in GRACILE syndrome (MIM: 603358).; Changed rating: GREEN; Changed phenotypes: GRACILE syndrome, 603358
25 Jul 2019	Fetal anomalies v0.311	SLC39A13	Rebecca Foulger commented on gene: SLC39A13: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: spondylodysplastic EDS phenotype. Keep SLC39A13 gene rating as Red.
25 Jul 2019	Fetal anomalies v0.311	SMAD3	Rebecca Foulger edited their review of gene: SMAD3: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Include SMAD3 as Green to be consistent with including TGFBR1. Therefore promote from Red to Green.; Changed rating: GREEN
25 Jul 2019	Fetal anomalies v0.311	CYP1B1	Rebecca Foulger edited their review of gene: CYP1B1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although we wouldn't include Peters anomaly alone on the panel, you can get cataracts with Peters anomaly and therefore include PAX6 and CYP1B1 on this basis.; Changed rating: GREEN
25 Jul 2019	Fetal anomalies v0.311	SCN4A	Rebecca Foulger edited their review of gene: SCN4A: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Green on arthrogryposis panel, and phenotypes include polyhydramnios, arthrogryposis (variable penetrance). Therefore promote from Red to Green.; Changed rating: GREEN
25 Jul 2019	Fetal anomalies v0.311	DNMT3A	Rebecca Foulger edited their review of gene: DNMT3A: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: ASD, umbilical hernia, overgrowth. Therefore promote from Red to Green.; Changed rating: GREEN
25 Jul 2019	Fetal anomalies v0.311	NDP	Rebecca Foulger edited their review of gene: NDP: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Include on basis of PMID:30125416 (Prenatal diagnosis of Norrie disease based on ultrasound findings): Dubcus et al., 2018 describe a case of Norrie disease diagnosed based on ocular defects in the fetus on an ultrasound scan at 31+5 weeks gestation, and confirmed by identification of a de novo c.38T>C variant (p.Leu13Pro) in NDP. The authors say that this is the first case in which Norrie disease was diagnosed based on prenatal imaging only.; Changed rating: GREEN; Changed publications: 30125416
25 Jul 2019	Fetal anomalies v0.311	NPHP4	Rebecca Foulger edited their review of gene: NPHP4: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype includes hyperechoic kidneys. Therefore promote from Red to Green.; Changed rating: GREEN
25 Jul 2019	Fetal anomalies v0.311	DPAGT1	Rebecca Foulger edited their review of gene: DPAGT1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype includes cataract, microcephaly, arthrogryposis. Therefore promote DPAGT1 from Red to Green.; Changed rating: GREEN
25 Jul 2019	Fetal anomalies v0.311	FKTN	Rebecca Foulger edited their review of gene: FKTN: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: muscle-eye-brain disease: include FKTN for consistency. Therefore promote from Red to Green.; Changed rating: GREEN
25 Jul 2019	Fetal anomalies v0.311	PMS2	Rebecca Foulger commented on gene: PMS2: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate all Lynch syndrome genes as Red.
25 Jul 2019	Fetal anomalies v0.311	MMACHC	Rebecca Foulger edited their review of gene: MMACHC: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Table 4).; Changed rating: GREEN; Changed publications: 20301503
25 Jul 2019	Fetal anomalies v0.311	LMBRD1	Rebecca Foulger edited their review of gene: LMBRD1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Table 4). Plus Anna de Burca notes that in PMID:19136951: 4/12 cases had congenital heart disease.; Changed rating: GREEN; Changed publications: 20301503, 19136951
25 Jul 2019	Fetal anomalies v0.311	MMADHC	Rebecca Foulger edited their review of gene: MMADHC: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Hydrocephalus- Table 4).; Changed rating: GREEN; Changed publications: 20301503
25 Jul 2019	Fetal anomalies v0.311	HCFC1	Rebecca Foulger edited their review of gene: HCFC1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Table 4).; Changed rating: GREEN; Changed publications: 20301503
25 Jul 2019	Fetal anomalies v0.311	SETD5	Rebecca Foulger edited their review of gene: SETD5: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although the micrognathia associated with SETD5 variants is not severe, there are quite a few reports of congenital heart defects and a few other structural phenotypes including 2 unrelated families with polydactyly. Therefore promote from Red to Green.; Changed rating: GREEN; Changed publications: 28881385, 27375234
25 Jul 2019	Fetal anomalies v0.311	GALC	Rebecca Foulger edited their review of gene: GALC: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). GALC falls into the early onset leukodystrophy category and should be included as Green on the basis of the possibility that something which could present at 3 months could conceivably present at -3 months.; Changed rating: GREEN
25 Jul 2019	Fetal anomalies v0.311	ROGDI	Rebecca Foulger edited their review of gene: ROGDI: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: May include structural features. Therefore promote from Red to Green.; Changed rating: GREEN
25 Jul 2019	Fetal anomalies v0.311	DNMT3B	Rebecca Foulger edited their review of gene: DNMT3B: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotypes include micrognathia and microcephaly. Therefore upgrade DNMT3B from Red to Green.; Changed rating: GREEN
25 Jul 2019	Fetal anomalies v0.311	TUBB4A	Rebecca Foulger edited their review of gene: TUBB4A: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Infantile onset hypomyelination with atrophy of basal ganglia & cerebellum- promote from Red to Green.; Changed rating: GREEN
25 Jul 2019	Fetal anomalies v0.311	FTL	Rebecca Foulger edited their review of gene: FTL: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team) and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype can include congenital cataracts. Therefore FTL was upgraded from Red to Green.; Changed rating: GREEN
25 Jul 2019	Fetal anomalies v0.311	GALK1	Rebecca Foulger edited their review of gene: GALK1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype includes cataracts. Therefore GALK1 was upgraded from Red to Green.; Changed rating: GREEN
25 Jul 2019	Fetal anomalies v0.311	FH	Rebecca Foulger edited their review of gene: FH: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Discussions and outcome of review: FH is biallelic for 'Fumarase deficiency', and monoallelic for 'Leiomyomatosis and renal cell cancer'. Fumarase deficiency can sometimes have prenatal onset: polyhydramnios & brain malformations. Include for biallelic inheritance only to avoid risk of incidental cancer finding. Therefore FH was upgraded from Red to Green.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
25 Jul 2019	Fetal anomalies v0.311	GALE	Rebecca Foulger edited their review of gene: GALE: Added comment: This gene was reviewed at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype includes cataracts. Although unclear if cataracts are congenital, include on panel. Therefore GALE was upgraded from Red to Green.; Changed rating: GREEN
25 Jul 2019	Fetal anomalies v0.311	TBCE	Rebecca Foulger edited their review of gene: TBCE: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Promote TBCE from Amber to Green.; Changed rating: GREEN
25 Jul 2019	Fetal anomalies v0.311	WRAP53	Rebecca Foulger edited their review of gene: WRAP53: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although there is no molecular diagnosis, the phenotype includes hydrops/IUGR. Therefore include on the panel as Green.; Changed rating: GREEN
25 Jul 2019	Fetal anomalies v0.311	LAMP2	Rebecca Foulger commented on gene: LAMP2: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Edward Blair (Oxford) confirmed that LAMP2 should remain as Red: cardiomyopathy not detected in utero.
25 Jul 2019	Fetal anomalies v0.311	FOXG1	Rebecca Foulger edited their review of gene: FOXG1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: May include structural features. Therefore promote from Red to Green.; Changed rating: GREEN
25 Jul 2019	Fetal anomalies v0.311	PAX8	Rebecca Foulger edited their review of gene: PAX8: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although there is no molecular diagnosis, the phenotype includes hydrops/IUGR. Therefore include on the panel as Green.; Changed rating: GREEN
25 Jul 2019	Fetal anomalies v0.311	UROS	Rebecca Foulger edited their review of gene: UROS: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: macroglossia, umbilical hernia. Therefore promote from Red to Green.; Changed rating: GREEN
25 Jul 2019	Fetal anomalies v0.311	PAX6	Rebecca Foulger edited their review of gene: PAX6: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although we wouldn't include Peters anomaly alone on the panel, you can get cataracts with Peters anomaly and therefore include PAX6 and CYP1B1 on this basis.; Changed rating: GREEN
25 Jul 2019	Fetal anomalies v0.311	BFSP2	Rebecca Foulger edited their review of gene: BFSP2: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Can be associated with congenital cataract- promote from Red to Green.; Changed rating: GREEN
25 Jul 2019	Fetal anomalies v0.311	HDAC4	Rebecca Foulger edited their review of gene: HDAC4: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Keep rating as Red.; Changed publications: 24715439, 23188045
25 Jul 2019	Fetal anomalies v0.311	POLR3B	Rebecca Foulger edited their review of gene: POLR3B: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Early childhood onset leukodystrophy- promote from Red to Green.; Changed rating: GREEN
25 Jul 2019	Fetal anomalies v0.311	SLC25A38	Rebecca Foulger edited their review of gene: SLC25A38: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although there is no molecular diagnosis, the phenotype includes hydrops/IUGR. Therefore include on the panel as Green.; Changed rating: GREEN
25 Jul 2019	Fetal anomalies v0.310	NDUFAF5	Rebecca Foulger gene: NDUFAF5 was added gene: NDUFAF5 was added to Fetal anomalies. Sources: Expert Review Green,Literature Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFAF5 were set to 18940309; 30266093; 21620786 Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex I deficiency, nuclear type 16, 618238
25 Jul 2019	Fetal anomalies v0.310	FRMD4A	Rebecca Foulger gene: FRMD4A was added gene: FRMD4A was added to Fetal anomalies. Sources: Expert Review Green,Literature Mode of inheritance for gene: FRMD4A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FRMD4A were set to 30266093; 25388005; 30214071 Phenotypes for gene: FRMD4A were set to ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819
25 Jul 2019	Fetal anomalies v0.310	FARS2	Rebecca Foulger Source Expert Review Red was added to FARS2. Rating Changed from Green List (high evidence) to Red List (low evidence)
23 Jul 2019	Fetal anomalies v0.309	ALPL	Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from BIALLELIC to 'BOTH monoallelic and biallelic' following advice by Anna de Burca (Genomics England clinical team). AD variant reported in Chandler et al (PMID:29595812) for Hypophosphatasia phenotype. OMIM lists AR inheritance for Hypophosphatasia, infantile/Hypophosphatasia, childhood. And AD/AR for Hypophosphatasia, adult and Odontohypophosphatasia.
23 Jul 2019	Fetal anomalies v0.308	ALPL	Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from BIALLELIC to 'BOTH monoallelic and biallelic' following advice by Anna de Burca (Genomics England clinical team). AD variant reported in Chandler et al (PMID:29595812) for Hypophosphatasia phenotype. OMIM lists AR inheritance for Hypophosphatasia, infantile/Hypophosphatasia, childhood. And AD/AR for Hypophosphatasia, adult and Odontohypophosphatasia.
19 Jul 2019	Fetal anomalies v0.304	IARS	Rebecca Foulger Phenotypes for gene: IARS were changed from Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy to Growth retardation, impaired intellectual development, hypotonia, and hepatopathy, 617093
19 Jul 2019	Fetal anomalies v0.303	IARS	Rebecca Foulger Publications for gene: IARS were set to
19 Jul 2019	Fetal anomalies v0.302	IARS	Rebecca Foulger Classified gene: IARS as Green List (high evidence)
19 Jul 2019	Fetal anomalies v0.302	IARS	Rebecca Foulger Added comment: Comment on list classification: Promoted IARS from Amber to Green on advice from Genomics England clinical team. Although the DD-G2P Disease confidence rating is 'probable' for 'Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy', there are sufficient cases from the literature to support Green rating. As reviewed by Louise Daugherty on the 'Intellectual disability' panel: Kopajtich et al., 2016 PMID:27426735 reported 3 unrelated patients with a multisystem disorder characterized by intrauterine and postnatal growth retardation, including small head circumference (-3 to -5 SD), hypotonia and delayed psychomotor development with variable severity of intellectual disability.
19 Jul 2019	Fetal anomalies v0.302	IARS	Rebecca Foulger Gene: iars has been classified as Green List (High Evidence).
15 Jul 2019	Fetal anomalies v0.300	MYO7A	Rebecca Foulger changed review comment from: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Nothing structural that would present in a fetus. Action taken: Demoted KIT gene rating from Amber to Red.; to: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Nothing structural that would present in a fetus. Action taken: Demoted MYO7A gene rating from Amber to Red.
12 Jul 2019	Fetal anomalies v0.298	COQ4	Anna de Burca reviewed gene: COQ4: Rating: GREEN; Mode of pathogenicity: None; Publications: 25658047; Phenotypes: COENZYME Q10 DEFICIENCY, PRIMARY; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
05 Jul 2019	Fetal anomalies v0.296	PDHB	Anna de Burca gene: PDHB was added gene: PDHB was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDHB were set to 26865159 Phenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency Review for gene: PDHB was set to AMBER Added comment: PMID:26865159 reports a fetus with homozygous variants in PDHB where there was antenatal presentation of pyruvate dehydrogenase deficiency associated with craniofacial features and structural neurological defects. Sources: Literature
01 Jul 2019	Fetal anomalies v0.294	KIAA1109	Rebecca Foulger Added comment: Comment on mode of pathogenicity: The Mode of pathogenicity recorded in Gene2Phenotype for the disorder 'Brain atrophy, Dandy Walker and Contractures' is: All missense/in frame. However, as summarised in PMID:29290337 (Gueneau et al., 2018), case subjects compatible with life carry missense variants but many of the more severely affected cases harbor homozygous or compound het truncating alleles. Therefore changed the Mode of pathogenicity back to default so LOF variants are captured.
01 Jul 2019	Fetal anomalies v0.293	KIAA1109	Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green after agreement from Anna de Burca (Genomics England clinical team). KIAA1109 is Green on the 'Hydrocephalus' and 'Arthrogryposis' panels. Sufficient cases in OMIM to support association with Alkuraya-Kucinskas syndrome (MIM:617822) which includes arthrogryposis and brain abnormalities: severe cases are incompatible with life. Multiple ultrasounds abnormalities reported in PMIDs 30485398 and 29290337.
01 Jul 2019	Fetal anomalies v0.290	KIAA1109	Rebecca Foulger commented on gene: KIAA1109: PMID:30485398: Filatova et al. 2019 report a Russian family with fetal anomalies detected upon ultrasound scans of three pregnancies. The first pregnancy resulted in a miscarriage. The second and third pregnancies were terminated because of ultrasound fetal abnormalities. In the third pregnancy, anomalies included bilateral ventriculomegaly, arthrogryposis (radial clubhand, bilateral clubfoot, flexed deformity of hip, knee and ankle joints), bilateral pyelectasis, increased thickness of the nuchal‐fold, hypoplastic and low set ears- Sanger sequencing revealed that the polymalformative fetus had compound heterozygous KIAA1109 variants. One of the dichorionic twins in the 4th pregnancy had similar phenotype and biallelic KIAA1109 variants (the healthy twin had only one variant c.1932‐3A>G).
27 Jun 2019	Fetal anomalies v0.288	TCF20	Eleanor Williams Phenotypes for gene: TCF20 were changed from TCF20 syndrome to TCF20 syndrome; Developmental delay with variable intellectual impairment and behavioral abnormalities 618430
18 Jun 2019	Fetal anomalies v0.284	CNOT1	Rebecca Foulger commented on gene: CNOT1: Keep as amber and added watchlist tag on advice from Helen Brittain (Genomics England Clinical Fellow);this might be a specific variant-related phenotype, and there is insufficient evidence for the gene in general at present.
11 Jun 2019	Fetal anomalies v0.284	POMK	Rebecca Foulger Marked gene: POMK as ready
11 Jun 2019	Fetal anomalies v0.284	COG4	Rebecca Foulger Marked gene: COG4 as ready
11 Jun 2019	Fetal anomalies v0.284	HNRNPK	Rebecca Foulger Marked gene: HNRNPK as ready
11 Jun 2019	Fetal anomalies v0.284	HNRNPK	Rebecca Foulger Added comment: Comment when marking as ready: Anna de Burca (Genomics England clinical team) confirmed that Green rating was correct for HNRNPK.
11 Jun 2019	Fetal anomalies v0.284	MYRF	Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Green. MYRF gene was added to the panel and reviewed by Julia Baptista. Sufficient cases to support MYRF variants causing Cardiac-urogenital syndrome (MIM:618280) from Pinz et al 2018 (PMID:29446546), Chitayat et al., (PMID:30070761), Qi et al.,2018 (PMID:30532227) and Rossetti et al., 2019 (PMID: 31069960). The phenotype is fetally-relevant (includes congenital diaphragmatic hernia/CDH, genital defects and cardiac defects) with multiple papers reporting detection in-utero: In both patients identified in Pinz et al 2018, anomalies were detected by ultrasound at 20 weeks gestation: mesocardia without other signs of heterotaxy (Patient 1), and a complex congenital heart defect with pericardial effusion (Patient 2). Chitayat et al., report a fetus with a novel de novo LOF variant in MYRF and a hypoplastic left heart and female external genitalia. In Rossetti et al., 2019, cardiac malformation and/or CDH was detected on a prenatal ultrasound.
11 Jun 2019	Fetal anomalies v0.281	MYRF	Rebecca Foulger Phenotypes for gene: MYRF were changed from congenital diaphragmatic hernia, cardiac defect, disorders of sexual development to Cardiac-urogenital syndrome, 618280; Congenital diaphragmatic hernia (CDH); Disorders of sex development (DSD)
11 Jun 2019	Fetal anomalies v0.279	H19	Rebecca Foulger Added comment: Comment on list classification: Demoted gene from Green to Red based on group clinical review, and confirmation from Richard Scott.
11 Jun 2019	Fetal anomalies v0.278	H19	Rebecca Foulger commented on gene: H19: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in Spring 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Epigenetic. Action taken: Demoted H19 gene rating from Green to Red. Additional notes from clinical review: Relevant variants are in the upstream methylation region rather than the coding region, and therefore won't be detected on the exome.
04 Jun 2019	Fetal anomalies v0.277	PKD1	Rebecca Foulger Added comment: Comment on mode of inheritance: Although not yet listed in DD-Gene2Phenotype, PKD1 is listed in OMIM with AD inheritance for Polycystic kidney disease 1, 173900. Monoallelic MOI was also listed in the original PAGE Additional gene list. However the external review and the two cited papers support both AD and AR inheritance for polycystic kidney disease (PKD). PMID:23624871 note that recessive polycystic kidney disease (ARPKD) frequently presents antenatally or in the neonatal period with severe renal involvement.
04 Jun 2019	Fetal anomalies v0.276	PKD1	Rebecca Foulger commented on gene: PKD1: PMID:23624871 (Gilbert et al., 2013) was added as a publication by Julia Baptista. The authors describe a male fetus with renal enlargement and oligohydramnios diagnosed at 27 weeks of gestation. This presentation resembled autosomal recessive PKD (ARPKD). Genetic analysis revealed a heterozygous truncating variant (p.Ser2788fs) in PKD1 inherited from the mother, and three unreported PKD1 variants inherited from the father. Although the authors don't exclude the possibility of a pathogenic variant in an additional gene, the paternally-inherited alleles support biallelic PKD1 alleles causing the fetal kidney anomalies.
04 Jun 2019	Fetal anomalies v0.275	PKD1	Rebecca Foulger Phenotypes for gene: PKD1 were changed from Polycystic kidney disease 173900 to Polycystic kidney disease, 173900; Autosomal recessive polycystic kidney disease (ARPKD); Autosomal dominant polycystic kidney disease (ADPKD)
04 Jun 2019	Fetal anomalies v0.273	MYRF	Julia Baptista gene: MYRF was added gene: MYRF was added to Fetal anomalies. Sources: Expert Review,Literature Mode of inheritance for gene: MYRF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: MYRF were set to PMID: 30532227; 30985895; 31069960; 30070761; 29446546 ) Phenotypes for gene: MYRF were set to congenital diaphragmatic hernia, cardiac defect, disorders of sexual development Review for gene: MYRF was set to GREEN Added comment: Pinz et al. 2018 reported MYRF de novo pathogenic variants in 2 unrelated male infants with cardiac-urogenital syndrome (PMID: 29446546) Chitayat et al. (2018) reported one additional male fetus with complex congenital heart disease and severe urogenital malformations (PMID: 30070761). Qi et al. 2018 identified 7 patients from 6 families with heterozygous MYRF variants. All of the patients had cardiac defects. Urogenital defects were present in all 4 patients who were examined (PMID: 30532227). Rosetti et al 2019 described de novo heterozygous MYRF variants in three males. Congenital heart disease was presnet in 2/3 and diaphragmatic hernia in 2/3. Sources: Expert Review, Literature
24 May 2019	Fetal anomalies v0.273	SOX9	Rebecca Foulger edited their review of gene: SOX9: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous variant in SOX9 in a case where the main ultrasound finding was Shortened and bowed long bones, talipes (Table 1).; Changed rating: AMBER; Changed phenotypes: Shortened and bowed long bones, talipes
24 May 2019	Fetal anomalies v0.273	L1CAM	Rebecca Foulger edited their review of gene: L1CAM: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a hemizygous variant in L1CAM in a case where the main ultrasound finding was Hydrocephalus consistent with aqueductal stenosis (Table 1).; Changed rating: AMBER; Changed phenotypes: Hydrocephalus consistent with aqueductal stenosis
24 May 2019	Fetal anomalies v0.273	PIK3R2	Rebecca Foulger edited their review of gene: PIK3R2: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous de novo likely-pathogenic variant in PIK3R2 in a case where the main ultrasound finding was Megalencephaly, neuronal migrational anomaly, congenital heart defect, heterotopias (Table 1).; Changed rating: AMBER; Changed phenotypes: Megalencephaly, neuronal migrational anomaly, congenital heart defect, heterotopias
24 May 2019	Fetal anomalies v0.273	RIT1	Rebecca Foulger edited their review of gene: RIT1: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous de novo variant in RIT1 in a case where the main ultrasound finding was Hydrops, CNS malformation, congenital heart defect (Table 1).; Changed rating: AMBER; Changed phenotypes: Hydrops, CNS malformations, congenital heart defect
24 May 2019	Fetal anomalies v0.273	AMER1	Rebecca Foulger edited their review of gene: AMER1: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a hemizygous variant in AMER1 in a case where the main ultrasound finding was Macrocephaly, cleft lip and palate, congenital heart defect, bifid thumb, CNS malformation, hydrocephalus (Table 1).; Changed rating: AMBER; Changed phenotypes: Macrocephaly, cleft lip and palate, congenital heart defect, bifid thumb, CNS malformation, hydrocephalu
24 May 2019	Fetal anomalies v0.273	FANCB	Rebecca Foulger edited their review of gene: FANCB: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a hemizygous de novo variant in FANCB in a case where the main ultrasound finding was Ventriculomegaly, cardiac left-axis deviation, absent radii (Table 1).; Changed rating: AMBER; Changed phenotypes: Ventriculomegaly, cardiac left-axis deviation, absent radii
24 May 2019	Fetal anomalies v0.273	CYP11A1	Rebecca Foulger edited their review of gene: CYP11A1: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a homozygous variant in CYP11A1 in a case where the main ultrasound finding was Hydrops, cardiomegaly (Table 1).; Changed rating: AMBER; Changed phenotypes: Hydrops, cardiomegaly
24 May 2019	Fetal anomalies v0.273	FLNA	Rebecca Foulger edited their review of gene: FLNA: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a hemizgyous likely-pathogenic variant in FLNA in a case where the main ultrasound finding was CNS malformations (Table 1). A heterozygous variant in PTPN11 was also reported, which the authors classify as a Possible result.; Changed rating: AMBER; Changed phenotypes: CNS malformations
24 May 2019	Fetal anomalies v0.273	MRPS22	Rebecca Foulger edited their review of gene: MRPS22: Added comment: Support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified compound heterozygous variants in MRPS22 in a case where the main ultrasound finding was Hydrops, CNS malformations, cardiomyopathy (Table 1).; Changed phenotypes: Hydrops, CNS malformations, cardiomyopathy
24 May 2019	Fetal anomalies v0.273	FOXP3	Rebecca Foulger edited their review of gene: FOXP3: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a hemizygous variant in FOXP3 in a case where the main ultrasound finding was Hydrops, contractures, echogenic kidney, placentalmegaly (Table 1). An additional variant in COL10A1 was reported that the authors classified as a possible result.; Changed rating: AMBER; Changed phenotypes: Hydrops, contractures, echogenic kidney, placentalmegaly
24 May 2019	Fetal anomalies v0.273	PIK3CA	Rebecca Foulger edited their review of gene: PIK3CA: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a de novo heterozygous variant in PIK3CA in a case where the main ultrasound finding was Brain malformations (Table 1). An inherited MYH3 variant was also detected in this case but was reclassified as likely benign based on allele frequency data.; Changed rating: AMBER; Changed phenotypes: Brain malformations
24 May 2019	Fetal anomalies v0.273	PTPN11	Rebecca Foulger edited their review of gene: PTPN11: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous de novo variant in PTPN11 in a case where the main ultrasound finding was Syndactyly, polydactyly (Table 1). An additional likely-pathogenic variant was identified in WDR35.; Changed rating: AMBER; Changed phenotypes: Syndactyly, polydactyly
24 May 2019	Fetal anomalies v0.273	FGFR2	Rebecca Foulger edited their review of gene: FGFR2: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous de novo variant in FGFR2 in a case where the main ultrasound finding was Fontal bossing, talipes, syndactyly, abducted thumbs (Table 1).; Changed rating: AMBER; Changed phenotypes: Fontal bossing, talipes, syndactyly, abducted thumbs
24 May 2019	Fetal anomalies v0.273	RIPK4	Rebecca Foulger edited their review of gene: RIPK4: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous likely pathogenic variant in RIPK4 (plus a heterozygous VUS) in a case where the main ultrasound finding was Hydrops, diaphragmatic hernia, gracile ribs, contractures (Table 1). Additional VUS variants were reported in RSAD1 and PPAP2C.; Changed rating: AMBER; Changed phenotypes: Hydrops, diaphragmatic hernia, gracile ribs, contractures
24 May 2019	Fetal anomalies v0.273	HRAS	Rebecca Foulger edited their review of gene: HRAS: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a heterozygous variant in HRAS in a case where the main ultrasound finding was Hydrops (Table 1).; Changed rating: AMBER; Changed phenotypes: Hydrops
24 May 2019	Fetal anomalies v0.273	BBS4	Rebecca Foulger edited their review of gene: BBS4: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a pathogenic variant in BBS4 in a case where the main ultrasound finding was Bilateral enlarged cystic kidneys (Table 1). VUS variants in ANKS6 and PKD1 were also reported.; Changed rating: AMBER; Changed phenotypes: Bilateral enlarged cystic kidneys
24 May 2019	Fetal anomalies v0.273	PIEZO1	Rebecca Foulger edited their review of gene: PIEZO1: Added comment: Additional support for inclusion of gene on panel comes from Yates et al., 2017 (PMID:28425981, Whole-exome sequencing on deceased fetuses with ultrasound anomalies: expanding our knowledge of genetic disease during fetal development). Yates et al., identified a case with two homozygous variants in PIEZO1 (one pathogenic, one VUS), where the main ultrasound finding was Hydrops (Table 1).; Changed rating: AMBER; Changed phenotypes: Hydrops
14 May 2019	Fetal anomalies v0.250	TRAF7	Rebecca Foulger Phenotypes for gene: TRAF7 were changed from Developmental Delay, Congenital Anomalies, and Dysmorphic Features to Developmental Delay, Congenital Anomalies, and Dysmorphic Features; Cardiac, facial, and digital anomalies with developmental delay, 618164
14 May 2019	Fetal anomalies v0.249	TRAF7	Rebecca Foulger commented on gene: TRAF7: PMID:29961569 (Tokita et al, 2018 Table 1) list Prenatal ultrasound findings in five unrelated patients with the disorder 'Cardiac, facial, and digital anomalies with developmental delay' (MIM:618164) and TRAF7 missense variants. The prenatal findings include choroid plexus cyst, IUGR and cardiac defects.
13 May 2019	Fetal anomalies v0.248	CNOT1	Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber awaiting clinical review. In summary: Sufficient (five) unrelated cases from two 2019 papers (PMID:31006513 and PMID:31006510) with holoprosencephaly, and pancreatic agenesis in 4/5 cases. The same heterozygous variant was recorded in all five individuals and authors of PMID:31006513 suggest phenotype is variant-specific rather than LOF. Mice require a homozygous variant to display a phenotype.
13 May 2019	Fetal anomalies v0.247	CNOT1	Rebecca Foulger commented on gene: CNOT1: Kruszka et al., 2019 (PMID:31006510) report two unrelated individuals with semilobar holoprosencephaly who have the identical de novo missense variant in the gene CNOT1. (c.1603C>T [p.Arg535Cys]). Proband 1 was born after a pregnancy complicated by IUGR. Additional medical problems include diabetes, pancreatice exocrine insufficiency and facial characteristics. No diabetic or pancreatic phenotype was recorded for proband 2.
13 May 2019	Fetal anomalies v0.247	CNOT1	Rebecca Foulger commented on gene: CNOT1: De Franco et al., 2019 (PMID:31006513) investigated a cohort of 107 individuals with pancreatic agenesis and definite/possible holoprosencephaly, and identified a heterozygous missense variant in CNOT1 (NM_016284.4; c.1603C>T (p.Arg535Cys)) in three unrelated individuals. The variant was de novo in two individuals, and was not present in the DNA sample from the third individual's father (maternal sample was unavailable). Mice required a homozygous variant to display a phenotype: in homozygous mice embryos (embryonically lethal) morphological abnormalities were apparent upon dissection including edema, a smaller dorsal pancreas, and exencephaly. The DDD study identified de novo CNOT1 variants in three individuals with developmental delay but none had holoprosencephaly, diabetes or pancreatic or neurological structural malformations. The authors therefore suggest that a mutation-specific mechanism rather than LOF is responsible for the pancreatic and holoprosencephaly phenotype.
09 May 2019	Fetal anomalies v0.244	HNRNPK	Rebecca Foulger commented on gene: HNRNPK: Au et al., 2018 (PMID:29904177) report prenatal presentation of Au-Kline syndrome: patient 9 presented prenatally with prune belly sequence, club feet, cystic kidneys associated with large cystic hygroma, pleural effusions and enlarged bladder. An additional 5 prenatal patients showed increased nuchal translucency and 5 patients had hydronephrosis. Congenital heart disease was reported for one patient prenatally. Agenesis of the corpus callosum was observed prenatally in one patient. Choroid plexus cysts, hyperechoic bowel, and ventriculomegaly have also been detected in ultrasound in single patients.
09 May 2019	Fetal anomalies v0.244	HNRNPK	Rebecca Foulger commented on gene: HNRNPK: Au-Kline syndrome is a multiple malformation syndrome associated with intellectual disability. Patients have facial dysmorphic features and frequently have skeletal and connective tissue anomalies, craniosynostosis, congenital heart malformations, and renal anomalies (PMID:29904177). Structural phenotypes reported in the literature include talipes and partial agenesis of corpus callosum. Au et al., 2018 (PMID:29904177) report prenatal presentation with 5 patients showing increased nuchal translucency and 5 patients had hydronephrosis.
30 Apr 2019	Fetal anomalies v0.240	TRIM32	Rebecca Foulger commented on gene: TRIM32: Summary of evidence: 1 Bedouin family reported in PMID:16606853 (Chiang et al., 2006). Plus PMID:30823891 (Servián-Morilla et al 2019) report variations in TRIM32 causing a muscle dystrophy. Two patients from Family C (II.3 and II.4) had symptoms of both muscular dystrophy and BBS including hypogonadism, hearing loss, and behavioral abnormalities. Therefore 2 families reported so far.
30 Apr 2019	Fetal anomalies v0.238	TUBB2A	Rebecca Foulger Marked gene: TUBB2A as ready
30 Apr 2019	Fetal anomalies v0.238	TUBB2A	Rebecca Foulger Added comment: Comment when marking as ready: Maked TUBB2A as ready on April 30th 2019 following clinical review for fetal relevance, and a literature review for evidence.
30 Apr 2019	Fetal anomalies v0.237	TUBB2A	Rebecca Foulger Added comment: Comment on list classification: Kept rating as Green following an assessment of evidence linking TUBB2A and cortical malformations. TUBB2A is Green on the PanelApp panel 'Malformations of cortical development'. Two cases are listed in OMIM from Cushion et al. (2014, PMID:24702957) plus further cases of Structural brain abnormalities in patients with TUBB2A variants are reported in Rodan et al., 2017 (PMID:27770045), Lee et al., 2014 (PMID:25326637) and Ejaz et al., 2017 (PMID:28840640). PMID:30016746 (2018) provides a summary. PMID:25326637 phenotypes include polymicrogyria and microcephaly (the age of onset of microcephaly is not noted). PMID:28840640 phenotypes include polymicrogyria and Arthrogryposis. Therefore sufficient evidence linking TUBB2A to cortical malformations that may be detected in a fetus.
30 Apr 2019	Fetal anomalies v0.235	TUBB2A	Rebecca Foulger commented on gene: TUBB2A: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene if there is sufficient evidence. Additional notes from clinical review: Variable CNS features.
30 Apr 2019	Fetal anomalies v0.235	DNAAF3	Rebecca Foulger Added comment: Comment on phenotypes: 'PRIMARY CILIARY DYSKINEASIA' phenotype comes from DD-Gene2Phenotype. Added in MIM:606763 so the correct spelling is present for search purposes. Ciliary dyskinesia, primary, 2
30 Apr 2019	Fetal anomalies v0.235	DNAAF3	Rebecca Foulger Phenotypes for gene: DNAAF3 were changed from PRIMARY CILIARY DYSKINEASIA to PRIMARY CILIARY DYSKINEASIA; Ciliary dyskinesia, primary, 2, MIM:606763
30 Apr 2019	Fetal anomalies v0.234	NEK1	Rebecca Foulger Added comment: Comment on phenotypes: The 'SHORT RIB-POLYDACTYLY SYNDORME, TYPE II' phenotype comes from Gene2Phenotype. Added 'Short rib-polydactyly Syndrome', together with MIM:263520 so the correct spelling is present for search purposes.
30 Apr 2019	Fetal anomalies v0.233	PCGF2	Rebecca Foulger Added comment: Comment on phenotypes: The 'INTELLECTUAL DUSBILITY' phenotype is imported from DD-Gene2Phenotype. Added 'Intellectual disability' so the correct spelling is present for search purposes.
30 Apr 2019	Fetal anomalies v0.233	PCGF2	Rebecca Foulger Phenotypes for gene: PCGF2 were changed from INTELLECTUAL DUSBILITY; Craniofacial Neurological Cardiovascular and Skeletal Features to INTELLECTUAL DUSBILITY; Craniofacial Neurological Cardiovascular and Skeletal Features; Intellectual disability
30 Apr 2019	Fetal anomalies v0.232	DDX3X	Rebecca Foulger Phenotypes for gene: DDX3X were changed from INTELLECTUAL DIABILITY to INTELLECTUAL DIABILITY; Intellectual disability; Mental retardation, X-linked 102, 300958
30 Apr 2019	Fetal anomalies v0.231	DDX3X	Rebecca Foulger Added comment: Comment on phenotypes: The 'INTELLECTUAL DIABILITY phenotype is imported from DD-Gene2Phenotype. Added 'Intellectual disability' and the OMIM phenotype so the correct spelling is present for search purposes.
30 Apr 2019	Fetal anomalies v0.229	ZNF423	Rebecca Foulger Marked gene: ZNF423 as ready
30 Apr 2019	Fetal anomalies v0.229	ZNF423	Rebecca Foulger Added comment: Comment when marking as ready: Marked ZNF423 as Ready on April 30th 2019: Fetally-relevant phenotype but currently insufficient evidence for inclusion.
30 Apr 2019	Fetal anomalies v0.229	SUFU	Rebecca Foulger Marked gene: SUFU as ready
30 Apr 2019	Fetal anomalies v0.229	SUFU	Rebecca Foulger Added comment: Comment when marking as ready: Marked SUFU as Ready on April 30th 2019: Fetally-relevant phenotype but currently insufficient evidence for inclusion.
30 Apr 2019	Fetal anomalies v0.229	SMARCAL1	Rebecca Foulger Source Expert Review Red was added to SMARCAL1. Rating Changed from Green List (high evidence) to Red List (low evidence)
30 Apr 2019	Fetal anomalies v0.228	PPM1D	Rebecca Foulger edited their review of gene: PPM1D: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PPM1D gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	PLP1	Rebecca Foulger edited their review of gene: PLP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PLP1 gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	PLCE1	Rebecca Foulger edited their review of gene: PLCE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PLCE1 gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	KCNJ11	Rebecca Foulger edited their review of gene: KCNJ11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted KCNJ11 gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	KCNT1	Rebecca Foulger edited their review of gene: KCNT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted KCNT1 gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	RPGRIP1	Rebecca Foulger edited their review of gene: RPGRIP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted RPGRIP1 gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	RPE65	Rebecca Foulger edited their review of gene: RPE65: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted RPE65 gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	ROGDI	Rebecca Foulger edited their review of gene: ROGDI: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ROGDI gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	SLC4A4	Rebecca Foulger edited their review of gene: SLC4A4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC4A4 gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	PEX14	Rebecca Foulger edited their review of gene: PEX14: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
30 Apr 2019	Fetal anomalies v0.228	RNASEH2C	Rebecca Foulger edited their review of gene: RNASEH2C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
30 Apr 2019	Fetal anomalies v0.228	RNASEH2B	Rebecca Foulger edited their review of gene: RNASEH2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
30 Apr 2019	Fetal anomalies v0.228	RNASEH2A	Rebecca Foulger edited their review of gene: RNASEH2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
30 Apr 2019	Fetal anomalies v0.228	SPATA5	Rebecca Foulger edited their review of gene: SPATA5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
30 Apr 2019	Fetal anomalies v0.228	SPRED1	Rebecca Foulger edited their review of gene: SPRED1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
30 Apr 2019	Fetal anomalies v0.228	SPG11	Rebecca Foulger edited their review of gene: SPG11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
30 Apr 2019	Fetal anomalies v0.228	SLC12A6	Rebecca Foulger edited their review of gene: SLC12A6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
30 Apr 2019	Fetal anomalies v0.228	POGZ	Rebecca Foulger edited their review of gene: POGZ: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
30 Apr 2019	Fetal anomalies v0.228	PHIP	Rebecca Foulger edited their review of gene: PHIP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
30 Apr 2019	Fetal anomalies v0.228	GLMN	Rebecca Foulger edited their review of gene: GLMN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GLMN gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	TRAPPC9	Rebecca Foulger edited their review of gene: TRAPPC9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
30 Apr 2019	Fetal anomalies v0.228	TANGO2	Rebecca Foulger edited their review of gene: TANGO2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TANGO2 gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	TAF1	Rebecca Foulger edited their review of gene: TAF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
30 Apr 2019	Fetal anomalies v0.228	TRPV4	Rebecca Foulger edited their review of gene: TRPV4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
30 Apr 2019	Fetal anomalies v0.228	TRIP12	Rebecca Foulger edited their review of gene: TRIP12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
30 Apr 2019	Fetal anomalies v0.228	SETD5	Rebecca Foulger edited their review of gene: SETD5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SETD5 gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	UBE2A	Rebecca Foulger edited their review of gene: UBE2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UBE2A gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	UBA5	Rebecca Foulger edited their review of gene: UBA5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UBA5 gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	USB1	Rebecca Foulger edited their review of gene: USB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted USB1 gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	UPF3B	Rebecca Foulger edited their review of gene: UPF3B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UPF3B gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	UFM1	Rebecca Foulger edited their review of gene: UFM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UFM1 gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	TSHB	Rebecca Foulger edited their review of gene: TSHB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TSHB gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	TMCO1	Rebecca Foulger edited their review of gene: TMCO1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
30 Apr 2019	Fetal anomalies v0.228	SLC25A38	Rebecca Foulger edited their review of gene: SLC25A38: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC25A38 gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	SLC39A13	Rebecca Foulger edited their review of gene: SLC39A13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC39A13 gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	SLC6A8	Rebecca Foulger edited their review of gene: SLC6A8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC6A8 gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	SMARCA2	Rebecca Foulger edited their review of gene: SMARCA2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
30 Apr 2019	Fetal anomalies v0.228	SLC9A6	Rebecca Foulger edited their review of gene: SLC9A6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC9A6 gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	SKIV2L	Rebecca Foulger edited their review of gene: SKIV2L: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SKIV2L gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	SBDS	Rebecca Foulger edited their review of gene: SBDS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SBDS gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	SIX1	Rebecca Foulger edited their review of gene: SIX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SIX1 gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	PRMT7	Rebecca Foulger edited their review of gene: PRMT7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
30 Apr 2019	Fetal anomalies v0.228	SCN4A	Rebecca Foulger edited their review of gene: SCN4A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SCN4A gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	TFAP2B	Rebecca Foulger edited their review of gene: TFAP2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
30 Apr 2019	Fetal anomalies v0.228	TEK	Rebecca Foulger edited their review of gene: TEK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TEK gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	TBCD	Rebecca Foulger edited their review of gene: TBCD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
30 Apr 2019	Fetal anomalies v0.228	SMARCAL1	Rebecca Foulger edited their review of gene: SMARCAL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SMARCAL1 gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	PAX8	Rebecca Foulger edited their review of gene: PAX8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PAX8 gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	WAC	Rebecca Foulger edited their review of gene: WAC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted WAC gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	PAX6	Rebecca Foulger edited their review of gene: PAX6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PAX6 gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	SPR	Rebecca Foulger edited their review of gene: SPR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SPR gene rating from Green to Red.; Changed rating: RED
30 Apr 2019	Fetal anomalies v0.228	SOX10	Rebecca Foulger edited their review of gene: SOX10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
30 Apr 2019	Fetal anomalies v0.228	PTHLH	Rebecca Foulger edited their review of gene: PTHLH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
30 Apr 2019	Fetal anomalies v0.228	PEPD	Rebecca Foulger edited their review of gene: PEPD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.226	TRIM32	Rebecca Foulger Marked gene: TRIM32 as ready
29 Apr 2019	Fetal anomalies v0.226	TRIM32	Rebecca Foulger Added comment: Comment when marking as ready: Marked TRIM32 as ready following clinical review, and review of evidence. April 29th 2019.
29 Apr 2019	Fetal anomalies v0.226	TBX22	Rebecca Foulger Marked gene: TBX22 as ready
29 Apr 2019	Fetal anomalies v0.226	TBX22	Rebecca Foulger Added comment: Comment when marking as ready: Marked TBX22 as ready following clinical review, and review of evidence. April 29th 2019.
29 Apr 2019	Fetal anomalies v0.226	GNAI1	Rebecca Foulger Marked gene: GNAI1 as ready
29 Apr 2019	Fetal anomalies v0.226	GNAI1	Rebecca Foulger Added comment: Comment when marking as ready: Marked GNAI1 as ready following clinical review, and review of evidence. April 29th 2019.
29 Apr 2019	Fetal anomalies v0.226	CTDP1	Rebecca Foulger Marked gene: CTDP1 as ready
29 Apr 2019	Fetal anomalies v0.226	CTDP1	Rebecca Foulger Added comment: Comment when marking as ready: Marked CTDP1 as ready following clinical review, and review of evidence. April 29th 2019.
29 Apr 2019	Fetal anomalies v0.226	WNT3	Rebecca Foulger Marked gene: WNT3 as ready
29 Apr 2019	Fetal anomalies v0.226	WNT3	Rebecca Foulger Added comment: Comment when marking as ready: Marked WNT3 as ready following clinical review, and review of evidence. April 29th 2019.
29 Apr 2019	Fetal anomalies v0.226	EDAR	Rebecca Foulger Source Expert Review Red was added to EDAR. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
29 Apr 2019	Fetal anomalies v0.225	COQ9	Rebecca Foulger edited their review of gene: COQ9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Diagnostic variant in PAGE study - fetus with dilated heart, pericardial effusion, anhydramnios, IUGR. ; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.225	CWC27	Rebecca Foulger edited their review of gene: CWC27: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN; Changed publications: 28285769
29 Apr 2019	Fetal anomalies v0.225	SLC35A2	Rebecca Foulger edited their review of gene: SLC35A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.225	WNT3	Rebecca Foulger commented on gene: WNT3: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is fetally-relevant but limited evidence: include on the Fetal anomalies panel as an Amber gene. Additional notes from clinical review: Currently insufficient evidence for fetally-relevant Tetra-Amelia syndrome.
29 Apr 2019	Fetal anomalies v0.225	G6PC3	Rebecca Foulger edited their review of gene: G6PC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: G6PC3 was originally added to the Fetal anomalies panel from the PAGE Additional gene list. G6PC3 is not yet associated with a disorder in Gene2Phenotype but is associated in OMIM with Dursun syndrome and Neutropenia, severe congenital 4, autosomal recessive (both MIM:612541). Since structural features were noted in some patients, it was decided that on balance G6PC3 should be included on the panel.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.225	CTDP1	Rebecca Foulger edited their review of gene: CTDP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is fetally-relevant but limited evidence: include on the Fetal anomalies panel as an Amber gene. Additional notes from clinical review: Although CTDP1 has a 'confirmed' Disease confidence rating in DD-G2P for CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME, the disorder is prevalent in Bulagarian Gypsy populations, and is limited to a founder variant.; Changed publications: 14517542, 29174527, 20301787, 24690360
29 Apr 2019	Fetal anomalies v0.225	TAPT1	Rebecca Foulger edited their review of gene: TAPT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.225	EDAR	Rebecca Foulger edited their review of gene: EDAR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: In agreement with previous review by Deirdre Cilliers, no structural phenotypes would present on a fetal scan. Action taken: Demoted EDAR gene rating from Amber to Red.; Changed rating: RED
29 Apr 2019	Fetal anomalies v0.225	ITPR1	Rebecca Foulger edited their review of gene: ITPR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Demoted ITPR1 gene rating from Amber to Red.; Changed rating: RED
29 Apr 2019	Fetal anomalies v0.225	H3F3A	Rebecca Foulger edited their review of gene: H3F3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: H3F3A was demoted to Red as it is no longer associated with a disorder in Gene2Phenotype, and has no associated disorder in OMIM.; Changed rating: RED
29 Apr 2019	Fetal anomalies v0.225	MYT1	Rebecca Foulger edited their review of gene: MYT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: There is no disorder in OMIM assocaited with MYT1, but Oculo-auriculo-vertebral spectrum (OAVS, also called Goldenhar) is described in two papers from same group- PMID:28612832 and PMID:27358179. There are 3 MYT1 variants from these 2 papers (2 missense, 1 nonsense) in OAVS patients so just meets evidence threshold. Caution was taken given the genetic heterogeneity and non-genetic factors associated with OAVS/Goldenhar. However on balance it was decided that the 3 literature variants are sufficient evidence for inclusion of MYT1 on the Fetal anomalies panel.; Changed rating: GREEN; Changed publications: 28612832, 27358179
29 Apr 2019	Fetal anomalies v0.225	BMP2	Rebecca Foulger edited their review of gene: BMP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Action taken: Updated rating from Amber to Green.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.225	MAOA	Rebecca Foulger edited their review of gene: MAOA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural features. Action taken: Demoted MAOA gene rating from Amber to Red.; Changed rating: RED
29 Apr 2019	Fetal anomalies v0.225	MAFB	Rebecca Foulger edited their review of gene: MAFB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.225	DEAF1	Rebecca Foulger edited their review of gene: DEAF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: In agreement with previous DEAF1 review from Deirdre Cilliers, no structural features would present on a fetal scan. Action taken: Demoted DEAF1 gene rating from Amber to Red.; Changed rating: RED
29 Apr 2019	Fetal anomalies v0.225	VPS53	Rebecca Foulger edited their review of gene: VPS53: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.225	PCGF2	Rebecca Foulger edited their review of gene: PCGF2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.225	SIM1	Rebecca Foulger edited their review of gene: SIM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SIM1 gene rating from Amber to Red.; Changed rating: RED
29 Apr 2019	Fetal anomalies v0.225	C11orf70	Rebecca Foulger edited their review of gene: C11orf70: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.225	TOP3A	Rebecca Foulger edited their review of gene: TOP3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.225	SUZ12	Rebecca Foulger edited their review of gene: SUZ12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Fetal relevance is borderline- PMIDs:28229514 and 30019515 report a set of features where it is unclear if they would be detected prenatally, including one case of increased head circumference at birth (but also one case with reduced head circumference at birth) some facial and limb features etc. Evidence wise, there are just enough cases from the literature (2 papers from the same group) to support inclusion: Imagawa et al., 2017 (PMID:28229514) identified a missense somatic mosaic mutation (c.1829A>T, p.Glu610Val) in SUZ12 in a patient with clinically suspected Weaver syndrome. Imagawa et al., 2018 (PMID:30019515) report two further Weaver syndrome-like patients with SUZ12 variants (a missense and a frameshift). On balance, it was decided that SUZ12 should be included on the Fetal anomalies panel.; Changed rating: GREEN; Changed publications: 28229514, 30019515
29 Apr 2019	Fetal anomalies v0.225	SPTBN2	Rebecca Foulger edited their review of gene: SPTBN2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SPTBN2 gene rating from Green to Red.; Changed rating: RED
29 Apr 2019	Fetal anomalies v0.225	SEPSECS	Rebecca Foulger edited their review of gene: SEPSECS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.225	FBXO11	Rebecca Foulger edited their review of gene: FBXO11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FBXO11 gene rating from Green to Red.; Changed rating: RED
29 Apr 2019	Fetal anomalies v0.225	DNAH9	Rebecca Foulger edited their review of gene: DNAH9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.225	CACNA1E	Rebecca Foulger edited their review of gene: CACNA1E: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.225	TBL1XR1	Rebecca Foulger edited their review of gene: TBL1XR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Include based on combination of (subtle) phenotypes. Action taken: Upgraded TBL1XR1 from Amber to Green.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.225	DDX3X	Rebecca Foulger edited their review of gene: DDX3X: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Although clefting is not a consistent feature (DDX3X is Amber on the V1.34 Clefting panel in PanelApp), there are enough other phenotypes to warrant inclusion.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.224	SMO	Rebecca Foulger commented on gene: SMO: Added 'somatic' tag alonside the 'mosaicism' tag following clinical review of SMO (April 26th 2019 with Lyn Chitty, Anna de Burca, Richard Scott and Rhiannon Mellis.
29 Apr 2019	Fetal anomalies v0.224	ASCC1	Rebecca Foulger commented on gene: ASCC1: ASCC1 was added to the panel as a Grey gene by Julia Baptista (Royal Devon and Exeter NHS Foundation Trust). ASCC1 rating was changed from Grey to Green following clinical review by Lyn Chitty, Richard Scott, Anna de Burca and Rhiannon Mellis; fetally relevant plus sufficient cases from Julia Baptista's review to support inclusion.
29 Apr 2019	Fetal anomalies v0.224	MYH6	Rebecca Foulger Added comment: Comment on mode of inheritance: MYH6 had 'monoallelic' inheritance in the original PAGE list/DD-G2P for all three disorders. Changed mode of inheritance from 'monoallelic' to 'biallelic' following group expert clinical review by Lyn Chitty, Richard Scott, Anna de Burca and Rhiannon Mellis on 26th April 2019.
29 Apr 2019	Fetal anomalies v0.223	DARS2	Rebecca Foulger Source Expert Review Red was added to DARS2. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
29 Apr 2019	Fetal anomalies v0.222	TRIM32	Rebecca Foulger commented on gene: TRIM32: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is fetally-relevant but limited evidence: include on the Fetal anomalies panel as an Amber gene. Additional notes from clinical review: Demote from Green to Amber.
29 Apr 2019	Fetal anomalies v0.222	TBX22	Rebecca Foulger commented on gene: TBX22: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is fetally-relevant but limited evidence: include on the Fetal anomalies panel as an Amber gene. Additional notes from clinical review: Amber for Abruzzo-Erickson syndrome (MIM: 302905) due to the limited evidence. The clefting phenotype has sufficient cases but is isolated cleft palate so unlikely to be seen prenatally (confirmed by Lyn Chitty, 26th April 2019). Therefore demote from Green to Amber.
29 Apr 2019	Fetal anomalies v0.222	SEC23B	Rebecca Foulger edited their review of gene: SEC23B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: No hydrops case in PAGE study for SEC23B, but 2 unrelated cases published in PMID:20381388.; Changed publications: 20381388
29 Apr 2019	Fetal anomalies v0.222	HCCS	Rebecca Foulger edited their review of gene: HCCS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Various fetal phenotypes on OMIM e.g. Ventricular septal defect (VSD) and diaphragmatic hernia.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	GNAI1	Rebecca Foulger commented on gene: GNAI1: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is fetally-relevant but limited evidence: include on the Fetal anomalies panel as an Amber gene. Additional notes from clinical review: Demote from Green to Amber due to limited evidence (unpublished, Decipher only).
29 Apr 2019	Fetal anomalies v0.222	GK	Rebecca Foulger edited their review of gene: GK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Neonatal phenotypes. Action taken: Demoted GK gene rating from Green to Red.; Changed rating: RED
29 Apr 2019	Fetal anomalies v0.222	DKC1	Rebecca Foulger edited their review of gene: DKC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	ERCC1	Rebecca Foulger edited their review of gene: ERCC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: IUGR amongst the phenotypes.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	PNKP	Rebecca Foulger edited their review of gene: PNKP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	PGK1	Rebecca Foulger edited their review of gene: PGK1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PGK1 gene rating from Green to Red.; Changed rating: RED
29 Apr 2019	Fetal anomalies v0.222	TGFBR1	Rebecca Foulger edited their review of gene: TGFBR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	TGFB3	Rebecca Foulger edited their review of gene: TGFB3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	TGFBR2	Rebecca Foulger edited their review of gene: TGFBR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	PGM3	Rebecca Foulger edited their review of gene: PGM3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PGM3 gene rating from Green to Red.; Changed rating: RED
29 Apr 2019	Fetal anomalies v0.222	TUBB4A	Rebecca Foulger edited their review of gene: TUBB4A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TUBB4A gene rating from Green to Red.; Changed rating: RED
29 Apr 2019	Fetal anomalies v0.222	SMO	Rebecca Foulger edited their review of gene: SMO: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Somatic mosaic.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	SLC2A10	Rebecca Foulger edited their review of gene: SLC2A10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	SLC39A8	Rebecca Foulger edited their review of gene: SLC39A8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	RAB39B	Rebecca Foulger edited their review of gene: RAB39B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Don't include on panel because of incidental finding issue with Parkinsons. Two papers in which macrocephaly is mentioned: PMID:20159109 dont specify age of onset, and in PMID:29152164 macrocephaly was detected in early childhood. Action taken: Demoted RAB39B gene rating from Green to Red.; Changed publications: 20159109, 29152164
29 Apr 2019	Fetal anomalies v0.222	ZFP57	Rebecca Foulger edited their review of gene: ZFP57: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Intrauterine growth retardation leading to tiny babies.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	WRAP53	Rebecca Foulger edited their review of gene: WRAP53: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted WRAP53 gene rating from Green to Red.; Changed rating: RED
29 Apr 2019	Fetal anomalies v0.222	KCNJ10	Rebecca Foulger edited their review of gene: KCNJ10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Digenic, and insufficient features that would be detected prenatally. Action taken: Demoted KCNJ10 gene rating from Green to Red.; Changed rating: RED
29 Apr 2019	Fetal anomalies v0.222	IGF1R	Rebecca Foulger edited their review of gene: IGF1R: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	IGF1	Rebecca Foulger edited their review of gene: IGF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Phenotypes include IUGR.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	IGHMBP2	Rebecca Foulger edited their review of gene: IGHMBP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Phenotypes include IUGR, reduced fetal movements and foot deformities.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	ERCC5	Rebecca Foulger edited their review of gene: ERCC5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	COL1A1	Rebecca Foulger commented on gene: COL1A1: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.
29 Apr 2019	Fetal anomalies v0.222	GBA2	Rebecca Foulger edited their review of gene: GBA2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	PPIB	Rebecca Foulger edited their review of gene: PPIB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	GLB1	Rebecca Foulger edited their review of gene: GLB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	ADNP	Rebecca Foulger edited their review of gene: ADNP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	COL6A2	Rebecca Foulger edited their review of gene: COL6A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Both conditions have features that would present. Keep Mode of inhertiance as both monoallelic and biallelic.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	CENPJ	Rebecca Foulger edited their review of gene: CENPJ: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	CDT1	Rebecca Foulger edited their review of gene: CDT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	CDON	Rebecca Foulger edited their review of gene: CDON: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Holoprosencephaly phenotype and CDON is Green on the 'Holoprosencephaly' V1.11 PanelApp panel.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	LRP4	Rebecca Foulger edited their review of gene: LRP4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	KCTD7	Rebecca Foulger edited their review of gene: KCTD7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Thin corpus collosum in one family. Action taken: Demoted KCTD7 gene rating from Green to Red.; Changed rating: RED
29 Apr 2019	Fetal anomalies v0.222	KCNQ3	Rebecca Foulger edited their review of gene: KCNQ3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No relevant structural features. Seizures postnatally. Action taken: Demoted KCNQ3 gene rating from Green to Red.; Changed rating: RED
29 Apr 2019	Fetal anomalies v0.222	KBTBD13	Rebecca Foulger edited their review of gene: KBTBD13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted KBTBD13 gene rating from Green to Red.; Changed rating: RED
29 Apr 2019	Fetal anomalies v0.222	POLR3B	Rebecca Foulger edited their review of gene: POLR3B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Clinical features include natal teeth and thin corpus callosum (insufficient for inclusion on panel). Neurological features are variable. Action taken: Demoted POLR3B gene rating from Green to Red.; Changed rating: RED
29 Apr 2019	Fetal anomalies v0.222	POLR3A	Rebecca Foulger commented on gene: POLR3A: This gene and phenotype were re-reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of re-review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical re-review: Include due to Wiedemann-Rautenstrauch syndrome (MIM:264090, neonatal onset progeroid syndrome; can present antenatally with IUGR and relative microcephaly).
29 Apr 2019	Fetal anomalies v0.222	FGFR1	Rebecca Foulger commented on gene: FGFR1: This gene and phenotype were re-reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of re-review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical re-review: Include on basis of Pfeiffer syndrome (MIM:101600).
29 Apr 2019	Fetal anomalies v0.222	CHD7	Rebecca Foulger commented on gene: CHD7: This gene and phenotype were re-reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of re-review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical re-review: Include on basis of CHARGE syndrome (MIM:214800).
29 Apr 2019	Fetal anomalies v0.222	FGF8	Rebecca Foulger edited their review of gene: FGF8: Added comment: This gene and phenotype were re-reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of re-review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical re-review: Structural features from birth. PMID:20463092 report 2 families; 1 affected indiv also had cleft lip and palate. PMID:24280688 report a singleton with micropenis, cleft lip and palate, craniofacial anomalies and ventricular septal defect (VSD) at birth. PMID:18596921 report 6 families with missense variants; one also had variant in FGFR1; in one family 2 sibs had cleft lip/palate but reduced penetrance. Overall include on Fetal panel based on cleft lip/palate phenotype. ; Changed publications: 20463092, 24280688, 18596921
29 Apr 2019	Fetal anomalies v0.222	ANOS1	Rebecca Foulger edited their review of gene: ANOS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Include on basis of renal agenesis.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	PROKR2	Rebecca Foulger edited their review of gene: PROKR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: PMID:17054399 comments that PROKR2-associated Kallmann syndrome is not associated with structural features. Action taken: Demoted PROKR2 gene rating from Green to Red.; Changed rating: RED; Changed publications: 17054399
29 Apr 2019	Fetal anomalies v0.222	KISS1R	Rebecca Foulger edited their review of gene: KISS1R: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No mention of structural features in OMIM. Action taken: Demoted KISS1R gene rating from Green to Red.; Changed rating: RED
29 Apr 2019	Fetal anomalies v0.222	PROK2	Rebecca Foulger edited their review of gene: PROK2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: PMID:17054399 comments that PROK2-associated Kallmann syndrome is not associated with structural features. Action taken: Demoted PROK2 gene rating from Green to Red.; Changed rating: RED; Changed publications: 17054399
29 Apr 2019	Fetal anomalies v0.222	ASAH1	Rebecca Foulger edited their review of gene: ASAH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Can (rarely) cause arthrogryposis.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	RAB39B	Rebecca Foulger edited their review of gene: RAB39B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Risk of incidental findings. Action taken: Demoted RAB39B gene rating from Green to Red.; Changed rating: RED
29 Apr 2019	Fetal anomalies v0.222	SMAD3	Rebecca Foulger edited their review of gene: SMAD3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Clefting phenotype is fetally-relevant, but exclude based on risk of incidental findings. Action taken: Demoted SMAD3 gene rating from Green to Red.; Changed rating: RED
29 Apr 2019	Fetal anomalies v0.222	PTEN	Rebecca Foulger edited their review of gene: PTEN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Although caution was taken when considering PTEN for the Fetal anomalies panel because of the cancer association (and therefore a potential incidental finding), macrocephaly presents at birth and PTEN is Green on the Hydrocephalus panel. Therefore after group review, it was decided to include PTEN on the Fetal anomalies panel.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	KCNQ1	Rebecca Foulger edited their review of gene: KCNQ1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Risk of incidental findings. Action taken: Demoted KCNQ1 gene rating from Green to Red.; Changed rating: RED
29 Apr 2019	Fetal anomalies v0.222	RRM2B	Rebecca Foulger edited their review of gene: RRM2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Presents early in life, so may potentially be diagnosed fetally.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	MYH6	Rebecca Foulger edited their review of gene: MYH6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Include MYH6 on the panel with BIALLELIC inheritance.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
29 Apr 2019	Fetal anomalies v0.222	LDB3	Rebecca Foulger edited their review of gene: LDB3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Concluded that myopathy is unlikely to produce Fetal hydrops in this instance. Although PMID:17394203 report a proband with variants in both TAZ and LDB3, where the mother had five miscarriages (plus two sons who died in infancy and 2 surviving children) the LDB3 variant is paternally-inherited, and therefore the maternally-inherited TAZ allele is more relevant. Action taken: Demoted LDB3 gene rating from Amber to Red.; Changed rating: RED; Changed publications: 17394203
29 Apr 2019	Fetal anomalies v0.222	TGFB2	Rebecca Foulger edited their review of gene: TGFB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	HSPD1	Rebecca Foulger edited their review of gene: HSPD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.222	DARS2	Rebecca Foulger edited their review of gene: DARS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Slowly progressive and manifests later. Action taken: Demoted DARS2 gene rating from Amber to Red.; Changed rating: RED
29 Apr 2019	Fetal anomalies v0.222	ATP13A2	Rebecca Foulger edited their review of gene: ATP13A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ATP13A2 gene rating from Amber to Red.; Changed rating: RED
29 Apr 2019	Fetal anomalies v0.222	BGN	Rebecca Foulger edited their review of gene: BGN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Review of BGN as Amber by Anna was before group review of the panel began. Following group review, it was decided that BGN should be included for the skeletal phenotype (Spondyloepimetaphyseal dysplasia) with X-linked RECESSIVE inheritance.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
29 Apr 2019	Fetal anomalies v0.222	PLA2G6	Rebecca Foulger edited their review of gene: PLA2G6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PLA2G6 gene rating from Amber to Red.; Changed rating: RED
29 Apr 2019	Fetal anomalies v0.222	ALAD	Rebecca Foulger edited their review of gene: ALAD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Postnatal phenotype, and no structural phenotype to detect prenatally. Action taken: Demoted ALAD gene rating from Amber to Red.; Changed rating: RED
29 Apr 2019	Fetal anomalies v0.222	ABCD1	Rebecca Foulger edited their review of gene: ABCD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Childhood onset and progressive- Nothing would be picked up fetally. Action taken: Demoted ABCD1 gene rating from Amber to Red.; Changed rating: RED
29 Apr 2019	Fetal anomalies v0.222	SNORD118	Rebecca Foulger edited their review of gene: SNORD118: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Confirmed that phenotype is fetally-relevant: include on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
29 Apr 2019	Fetal anomalies v0.220	FMR1	Rebecca Foulger commented on gene: FMR1: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March and April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Originally rated Amber based on DDG2P Disease confidence of 'both DD and IF' for at least one disorder. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FMR1 gene rating from Amber to Red.
27 Apr 2019	Fetal anomalies v0.219	MYH6	Rebecca Foulger commented on gene: MYH6: In original PAGE file, mode of inheritance is 'Monoallelic' for all three disorders (ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14).
25 Apr 2019	Fetal anomalies v0.218	H3F3A	Rebecca Foulger commented on gene: H3F3A: H3F3A was added to the Fetal anomalies panel as Amber based on a 'probable' Disease confidence rating in the original PAGE file and DD-G2P. At the time of panel review, H3F3A is no longer associated with a disorder in DD-Gene2Phenotype (April 2019). No OMIM disorder is associated with H3F3A and there are no publications supporting an obvious gene:disorder association. Therefore demoted H3F3A from Amber to Red.
25 Apr 2019	Fetal anomalies v0.218	MYT1	Rebecca Foulger commented on gene: MYT1: Berenguer et al 2017 (PMID:28612832) identified a third (de novo) MYT1 variant in a patient with OAVS: c.323C>T p.Ser108Leu from a cohort of 57 new patients with a typically heterogeneous OAVS. From functional studies, it's still unclear how these variants impact retinoic acid signaling and contribute to the phenotype.
25 Apr 2019	Fetal anomalies v0.218	MYT1	Rebecca Foulger commented on gene: MYT1: Lopez et al 2016 (PMID:27358179) identified a heterozgous MYT1 de novo nonsense variant in one patient (c.25C>T, p.Arg9*) and one heterozygous inherited missense variant in second patient (c.314C>T, p.Ser105Leu) in a cohort of 169patients with OAVS. Functional studies by transient knockdown of myt1a in zebrafish, led to specific craniofacial cartilage alterations.
25 Apr 2019	Fetal anomalies v0.218	MYT1	Rebecca Foulger commented on gene: MYT1: 2 papers linking MYT1 to OAVS: PMID:28612832 and PMID:27358179. Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder characterized by hemifacial microsomia associated with ear, eyes and vertebrae malformations showing highly variable expressivity (PMID:28612832).
25 Apr 2019	Fetal anomalies v0.216	TBL1XR1	Rebecca Foulger commented on gene: TBL1XR1: Evidence assessment for 'Pierpont syndrome, 602342' comprises 6 unrelated patients from Heinen et al. 2016 (PMID:26769062) with the same de novo heterozygous missense variant in the TBL1XR1 gene (c.1337A>G, p.Y446C). Plus a male child with the same missense variant from Kahlert et al., 2017 (PMID:28562391).
24 Apr 2019	Fetal anomalies v0.215	SUFU	Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber awaiting further published or clinical evidence. Joubert syndrome is fetally-relevant (see review by Dierdre Cilliers) but currently only 2 unrelated cases from one paper (PMID:28965847) and SUFU is Amber on the related 'Rare multisystem ciliopathy disorders' panel (for Joubert syndrome).
24 Apr 2019	Fetal anomalies v0.213	POMK	Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Fetally-relevant phenotype (hydrocephalus and macrocephaly detected in utero in patient in PMID:24925318) plus sufficient cases in literature/OMIM to support causation. Plus POMK is rated Green on PanelApp panels including Congenital muscular dystrophy/Hydrocephalus/Arthrogryposis.
24 Apr 2019	Fetal anomalies v0.210	POMK	Rebecca Foulger commented on gene: POMK: Patient 3 in PMID:24925318 (Di Costanzo et al, 2014) was an Italian male presenting with the most severe form of dystroglycanopathy, Walker–Warburg syndrome (WWS) and compound het variants in POMK. Macrocephaly and hydrocephalus were diagnosed in utero upon prenatal ultrasound at 32 weeks of gestation.
24 Apr 2019	Fetal anomalies v0.210	POMK	Rebecca Foulger commented on gene: POMK: POMK was added to the fetal panel as Amber based on a 'probable' rating in the PAGE original Additional gene list. In the PAGE paper (Lord et al., 2019, PMID:30712880) POMK is listed as an Additional gene based on association with a prenatal phenotype reported in the literature (Supplementary Table 2). POMK is not currently associated with a disorder in DD-Gene2Phenotype but is associated with 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249' in OMIM.
24 Apr 2019	Fetal anomalies v0.210	ZNF423	Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber following review of literature evidence in PMID:22863007 and ZNF423 is currently Amber on the 'Rare multisystem ciliopathy disorders' panel. Fetally relevant phenotype but currently insufficient evidence for a Green gene rating.
24 Apr 2019	Fetal anomalies v0.210	ZNF423	Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber following review of literature evidence in PMID:22863007 and ZNF423 is currently Amber on the 'Rare multisystem ciliopathy disorders' panel. Fetally relevant phenotype but currently insufficient evidence for a Green gene rating.
24 Apr 2019	Fetal anomalies v0.208	ZNF423	Rebecca Foulger commented on gene: ZNF423: Chaki et al. (2012 PMID:22863007) identified a homozygous 2738C-T variant in the ZNF423 gene (P913L) in two Turkish siblings with with nephronophthisis-14 manifested as infantile-onset kidney disease, cerebellar vermis hypoplasia, and situs inversus. Heterozygous variants were found in two additional unrelated patients with Joubert syndrome.
24 Apr 2019	Fetal anomalies v0.208	ZNF423	Rebecca Foulger commented on gene: ZNF423: ZNF423 was added to the fetal panel as Amber based on a 'probable' rating in the PAGE original Additional gene list. In the PAGE paper (Lord et al., 2019, PMID:30712880) ZNF423 is listed as an Additional gene (Supplementary Table 2) based on association with a prenatal phenotype reported in the literature, with biallelic/monoallelic inheritance.
24 Apr 2019	Fetal anomalies v0.208	ROBO1	Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green based on 3 probands reported in PMID:28592524 with ROBO loss of function variants and ventral septal heart defects.
24 Apr 2019	Fetal anomalies v0.207	ROBO1	Rebecca Foulger commented on gene: ROBO1: Evidence for inclusion on the PAGE Additional gene list comes from a single study in Kruszka et al. (2017, PMID:28592524) but 3 families of different ethnicities; each proband had a ventricular septal defect, and one proband had tetralogy of Fallot. Plus proband 1 had craniofacial findings, consistent with the mouse model. VSD can be detected prenatally (e.g. see PMID:24456562) so is relevant for the panel.
24 Apr 2019	Fetal anomalies v0.207	ROBO1	Rebecca Foulger commented on gene: ROBO1: ROBO1 was added to the fetal panel as Amber based on a 'probable' rating in the PAGE original Additional gene list. In the PAGE paper (Lord et al., 2019, PMID:30712880), ROBO1 is listed as an Additional gene (Supplementary Table 2) based on association with a prenatal phenotype reported in the literature.
24 Apr 2019	Fetal anomalies v0.207	ARL13B	Rebecca Foulger Phenotypes for gene: ARL13B were changed from Joubert syndrome 8 612291 to Joubert syndrome 8, 612291
24 Apr 2019	Fetal anomalies v0.206	ARL13B	Rebecca Foulger Publications for gene: ARL13B were set to
24 Apr 2019	Fetal anomalies v0.205	ARL13B	Rebecca Foulger Classified gene: ARL13B as Green List (high evidence)
24 Apr 2019	Fetal anomalies v0.205	ARL13B	Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: ARL13B is on the Additional gene list in the PAGE paper (Lord et al., 2019, PMID:30712880) based on prenatal presentation of a phenotype in the literature. Sufficient (3 unrelated cases in OMIM (Pakistani, American, Tunisian) with homozygous or compound heterozygous variants in ARL13B in patients with a Joubert phenotype (from PMIDs 18674751 and 25138100). Plus functional evidence to support impairment of ARL13B protein function (PMID:29255182). Therefore sufficient evidence to support threshold for Green rating.
24 Apr 2019	Fetal anomalies v0.205	ARL13B	Rebecca Foulger Gene: arl13b has been classified as Green List (High Evidence).
24 Apr 2019	Fetal anomalies v0.204	ARL13B	Rebecca Foulger commented on gene: ARL13B: ARL13B was added to the fetal panel as Amber based on a 'probable' rating in the PAGE original Additional gene list. In the PAGE paper (Lord et al., 2019, PMID:30712880) ARL13B is listed as an Additional gene (Supplementary Table 2) based on association with a prenatal phenotype reported in the literature. ARL13B is not currently associated with a disorder in DD-Gene2Phenotype but in OMIM is linked to the biallelic disorder Joubert syndrome 8, 612291.
24 Apr 2019	Fetal anomalies v0.203	ADAMTS17	Rebecca Foulger Phenotypes for gene: ADAMTS17 were changed from Weill-Marchesani-like syndrome 613195 to Weill-Marchesani 4 syndrome, recessive, 613195
24 Apr 2019	Fetal anomalies v0.201	ADAMTS17	Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: ADAMTS17 is listed as an Additional gene in the PAGE paper (Lord et al., 2019, PMID:30712880) and therefore fetally-relevant (phenotype includes short stature). For evidence, there are sufficient cases in OMIM (5 variants from 5 different families (3 families from PMID:19836009 and one each from PMIDs:22486325 and 24940034) to support a Green (diagnostic-grade) rating.
24 Apr 2019	Fetal anomalies v0.200	ADAMTS17	Rebecca Foulger commented on gene: ADAMTS17: ADAMTS17 was added to the fetal panel as Amber based on a 'probable' rating in the PAGE original Additional gene list. In the PAGE paper (Lord et al., 2019, PMID:30712880) ADAMTS17 is listed as an Additional gene (Supplementary Table 2) based on association with a prenatal phenotype reported in the literature. ADAMTS17 is not currently associated with a disorder in DD-Gene2Phenotype but in OMIM is linked to the disorder 'Weill-Marchesani 4 syndrome, recessive, 613195).
24 Apr 2019	Fetal anomalies v0.199	COG4	Rebecca Foulger commented on gene: COG4: The evidence for Saul-Wilson syndrome (MIM:618150) comes from one 2018 paper (PMID:30290151): Ferreira et al. (PMID:30290151, 2018) identified 2 different de novo heterozygous vaiants in the COG4 gene in 14 individuals, c.1546G-A and c.1546G-C both of which give rise to an identical missense mutation (G516R). Functional analysis shows that a stable protein is produced and, despite Golgi collapse, glycosylation is relatively normal. Given the DD-G2P Disease confidence rating is 'probable' (March 2019), only a missense variant has been reported, and functional evidence doesn't yet show the effect of the protein alteration, I have kept the MOI for COG4 on the Fetal anomalies panel as biallelic (for the confirmed glycosylation disorder) and not included the monoallelic Saul-Wilson syndrome on the panel at this stage.
24 Apr 2019	Fetal anomalies v0.199	COG4	Rebecca Foulger commented on gene: COG4: COG4 is Green on the fetal panel based on 'confirmed' rating for a biallelic glycosylation disorder (COG4-CDG) and expert clinical review. A probable gene:disease disorder also exists in DD-Gene2Phenotype: Saul-Wilson syndrome. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame, gain of function. DDG2P mode of inheritance: monoallelic. Saul-Wilson syndrome is a rare form of primordial dwarfism with severe pre-and postnatal growth retardation, and characteristic facial and radiographic features (PMID:30290151). Fetal relevance was confirmed by Anna de Burca but the evidence requires further investigation before the MOI is expanded to include monoallelic variants.
24 Apr 2019	Fetal anomalies v0.199	TTN	Rebecca Foulger Added comment: Comment on list classification: Rated as Green following confirmation from Anna de Burca as the following papers demonstrate a fetal relevance: In PMID:29575618, six of the affecteds were diagnosed prenatally by fetal ultrasound. In PMID:28040389 a fetal ultrasound reported Clubfoot. In PMID:29691892 all 30 patients had prenatal or early onset hypotonia and/or congenital contractures. The authors state that: to date, 16 patients from 12 families with a recessive prenatal or infant onset form of titinopathy have been reported.
24 Apr 2019	Fetal anomalies v0.198	TTN	Rebecca Foulger gene: TTN was added gene: TTN was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTN were set to 29575618; 28040389; 29691892 Phenotypes for gene: TTN were set to congenital titinopathy with arthrogryposis Review for gene: TTN was set to GREEN Added comment: TTN was reviewed on the DDG2P panel by Lucy Raymond with the comment: Biallelic LOF are congenital titinopathy with arthrogryposis and thus should be included. Rated 'possble' in DD-G2P for 'CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY' but there are sufficient published cases of congenital titinopathies (with or without a cardiac component) for a Green rating. Therefore have added TTN to the Fetal anomalies panel as a Green gene following confirmation by Anna de Burca. Sources: Expert Review
24 Apr 2019	Fetal anomalies v0.198	TTN	Rebecca Foulger gene: TTN was added gene: TTN was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTN were set to 29575618; 28040389; 29691892 Phenotypes for gene: TTN were set to congenital titinopathy with arthrogryposis Review for gene: TTN was set to GREEN Added comment: TTN was reviewed on the DDG2P panel by Lucy Raymond with the comment: Biallelic LOF are congenital titinopathy with arthrogryposis and thus should be included. Rated 'possble' in DD-G2P for 'CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY' but there are sufficient published cases of congenital titinopathies (with or without a cardiac component) for a Green rating. Therefore have added TTN to the Fetal anomalies panel as a Green gene following confirmation by Anna de Burca. Sources: Expert Review
22 Apr 2019	Fetal anomalies v0.197	DSTYK	Rebecca Foulger commented on gene: DSTYK: Note that a new gene:disorder association was added to DDG2P in March 2019: Autosomal Recessive Complicated Spastic Paraparesis SPG23. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic. Not yet included the spastic paraplegia phenotype (or biallelic inheritance) on this Fetal anomalies panel for DSTYK because the 3 families identified in PMID:28157540 have the same variant, and haplotype analysis suggests a Founder effect.
22 Apr 2019	Fetal anomalies v0.197	FBXO11	Rebecca Foulger commented on gene: FBXO11: Added watchlist tag to reflect multiple Disease confidence ratings in DD-G2P for different disorders: Rated confirmed for Variable Neurodevelopmental Disorder. Rated possible for FBXO11 related intellectual disability.
22 Apr 2019	Fetal anomalies v0.197	SPTBN2	Rebecca Foulger Added comment: Comment on phenotypes: Added more informative phenotype description from OMIM (Spinocerebellar ataxia, autosomal recessive 14, 615386) as Gene2Phenotype names the disorder as SCA14.
22 Apr 2019	Fetal anomalies v0.197	SPTBN2	Rebecca Foulger Phenotypes for gene: SPTBN2 were changed from SCA14; Infantile ataxia with oculomotor and pyramidal signs; Spinocerebellar ataxia, autosomal recessive 14, 615386 to SCA14; Infantile ataxia with oculomotor and pyramidal signs; Spinocerebellar ataxia, autosomal recessive 14, 615386
22 Apr 2019	Fetal anomalies v0.196	SPTBN2	Rebecca Foulger Added comment: Comment on mode of inheritance: Two new disorders added to DD-G2P in March 2019, with different modes of inheritance: biallelic for SCA14, and monoallelic for Infantile ataxia with oculomotor and pyramidal signs. Set inheritance to 'biallelic' only because biallelic 'SCA14' disorder is confirmed, and monoallelic 'Infantile ataxia with oculomotor and pyramidal signs' disorder is probable.
22 Apr 2019	Fetal anomalies v0.195	SIM1	Rebecca Foulger commented on gene: SIM1: Added 'multifactorial' tag to represent the 'Mu/Multifactorial' component of the mode of inheritance reported in OMM (AR,AD,Mu).
22 Apr 2019	Fetal anomalies v0.195	SIM1	Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is confirmed for 'Severe obesity with neurobehavioral features', the MOI was missing in Gene2Phenotype at the time when SIM1 was added to the DDG2P panel. Set the inheritance to 'both monoallelic and biallelic' to match the AR,AD,Mu (Multifactorial) inheritance in OMIM for Obesity, severe (MIM:601665).
22 Apr 2019	Fetal anomalies v0.194	C11orf70	Rebecca Foulger Added comment: Comment on mode of inheritance: Although the DD-G2P Disease confidence rating is 'confirmed' for PRIMARY CILIARY DYSKINESIA, the MOI was missing in Gene2Phenotype at the time when C11orf70 (CFAP300) was added to the Fetal anomalies panel. Therefore, set inheritance to 'biallelic' to match AR inheritance recorded in OMIM for Ciliary dyskinesia, primary, 38, 618063.
22 Apr 2019	Fetal anomalies v0.192	FBXO11	Rebecca Foulger gene: FBXO11 was added gene: FBXO11 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: FBXO11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: FBXO11 were set to 30057029 Phenotypes for gene: FBXO11 were set to Variable Neurodevelopmental Disorder
22 Apr 2019	Fetal anomalies v0.192	SPTBN2	Rebecca Foulger gene: SPTBN2 was added gene: SPTBN2 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: SPTBN2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SPTBN2 were set to 29196973; 28636205 Phenotypes for gene: SPTBN2 were set to SCA14; Infantile ataxia with oculomotor and pyramidal signs; Spinocerebellar ataxia, autosomal recessive 14, 615386
22 Apr 2019	Fetal anomalies v0.192	SEPSECS	Rebecca Foulger gene: SEPSECS was added gene: SEPSECS was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEPSECS were set to 29464431; 26805434; 26888482 Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D
22 Apr 2019	Fetal anomalies v0.192	C11orf70	Rebecca Foulger gene: C11orf70 was added gene: C11orf70 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: C11orf70 was set to Publications for gene: C11orf70 were set to 29727693; 29727692 Phenotypes for gene: C11orf70 were set to PRIMARY CILIARY DYSKINESIA
21 Apr 2019	Fetal anomalies v0.191	POLR3A	Rebecca Foulger Added comment: Comment on phenotypes: Added 'Wiedemann-Rautenstrauch syndrome' to the phenotypes because (based on the OMIM summary) the condition includes intrauterine growth retardation amongst the phenotypes, and is therefore fetally-relevant.
19 Apr 2019	Fetal anomalies v0.189	VPS53	Rebecca Foulger commented on gene: VPS53: VPS53 was added to the Fetal anomalies panel from the PAGE Additional Gene List (with rating: probable). New gene:disorder association added to DDG2P in March 2019: Progressive cerebella-cerebral atrophy type 2. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: loss of function. DDG2P mode of inheritance: biallelic.
19 Apr 2019	Fetal anomalies v0.189	VPS53	Rebecca Foulger Phenotypes for gene: VPS53 were changed from PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 615851 to PONTOCEREBELLAR HYPOPLASIA, TYPE 2E 615851; Progressive cerebella-cerebral atrophy type 2
19 Apr 2019	Fetal anomalies v0.188	PCGF2	Rebecca Foulger commented on gene: PCGF2: Added 'watchlist' tag to reflect multiple Disease confidence ratings for different disorders in Gene2Phenotype: Rated probable for INTELLECTUAL DUSBILITY. Rated confirmed for Craniofacial Neurological Cardiovascular and Skeletal.
19 Apr 2019	Fetal anomalies v0.188	PCGF2	Rebecca Foulger commented on gene: PCGF2: New gene:disorder association added to DDG2P in March 2019: Craniofacial Neurological Cardiovascular and Skeletal Features. DDG2P Disease confidence: confirmed. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame. DDG2P mode of inheritance: monoallelic.
19 Apr 2019	Fetal anomalies v0.187	PCGF2	Rebecca Foulger Phenotypes for gene: PCGF2 were changed from INTELLECTUAL DUSBILITY to INTELLECTUAL DUSBILITY; Craniofacial Neurological Cardiovascular and Skeletal Features
18 Apr 2019	Fetal anomalies v0.186	C5orf42	Rebecca Foulger edited their review of gene: C5orf42: Added comment: Additional evidence from PMID:30712878: Homozgyous variant identified in C5orf42 (called CPLANE1 in Table 1) from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
18 Apr 2019	Fetal anomalies v0.186	TSC2	Rebecca Foulger edited their review of gene: TSC2: Added comment: Additional evidence from PMID:30712878: De novo variants identified in TSC2 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
18 Apr 2019	Fetal anomalies v0.186	RERE	Rebecca Foulger edited their review of gene: RERE: Added comment: Additional evidence from PMID:30712878: De novo variant identified in RERE from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
18 Apr 2019	Fetal anomalies v0.186	RASA1	Rebecca Foulger edited their review of gene: RASA1: Added comment: Additional evidence from PMID:30712878: Maternally inherited variant identified in RASA1 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
18 Apr 2019	Fetal anomalies v0.186	FLVCR2	Rebecca Foulger edited their review of gene: FLVCR2: Added comment: Additional evidence from PMID:30712878: Compound heterozygous variants identified in FLVCR2 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
18 Apr 2019	Fetal anomalies v0.186	ARMC9	Rebecca Foulger edited their review of gene: ARMC9: Added comment: Additional evidence from PMID:30712878: Homozygous variant identified in ARMC9 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
18 Apr 2019	Fetal anomalies v0.186	PKD2	Rebecca Foulger edited their review of gene: PKD2: Added comment: Additional evidence from PMID:30712878: Maternally inherited variant identified in PKD2 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
18 Apr 2019	Fetal anomalies v0.186	ACTG2	Rebecca Foulger edited their review of gene: ACTG2: Added comment: Additional evidence from PMID:30712878: De novo variant identified in ACTG2 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
18 Apr 2019	Fetal anomalies v0.186	L1CAM	Rebecca Foulger edited their review of gene: L1CAM: Added comment: Additional evidence from PMID:30712878: Hemizgous variant identified in L1CAM in male fetus from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
18 Apr 2019	Fetal anomalies v0.186	FLNB	Rebecca Foulger edited their review of gene: FLNB: Added comment: Additional evidence from PMID:30712878: De novo variant identified in FLNB from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
18 Apr 2019	Fetal anomalies v0.186	FLNA	Rebecca Foulger edited their review of gene: FLNA: Added comment: Additional evidence from PMID:30712878: De novo variant identified in FLNA from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
18 Apr 2019	Fetal anomalies v0.186	FGFR3	Rebecca Foulger edited their review of gene: FGFR3: Added comment: Additional evidence from PMID:30712878: De novo variants identified in FGFR3 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
18 Apr 2019	Fetal anomalies v0.186	COL2A1	Rebecca Foulger edited their review of gene: COL2A1: Added comment: Additional evidence from PMID:30712878: De novo variant identified in COL2A1 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
18 Apr 2019	Fetal anomalies v0.186	TMEM67	Rebecca Foulger edited their review of gene: TMEM67: Added comment: Additional evidence from PMID:30712878: Homozygous variant identified in TMEM67 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
18 Apr 2019	Fetal anomalies v0.186	SOS1	Rebecca Foulger edited their review of gene: SOS1: Added comment: Additional evidence from PMID:30712878: Paternal inherited variant identified in SOS1 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
18 Apr 2019	Fetal anomalies v0.186	RIT1	Rebecca Foulger edited their review of gene: RIT1: Added comment: Additional evidence from PMID:30712878: De novo variant identified in RIT1 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
18 Apr 2019	Fetal anomalies v0.186	RAPSN	Rebecca Foulger edited their review of gene: RAPSN: Added comment: Additional evidence from PMID:30712878: Compound heterozygous variants identified in RAPSN from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
18 Apr 2019	Fetal anomalies v0.186	KMT2D	Rebecca Foulger edited their review of gene: KMT2D: Added comment: Additional evidence from PMID:30712878: De novo variant identified in KMT2D from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
18 Apr 2019	Fetal anomalies v0.186	COL4A1	Rebecca Foulger edited their review of gene: COL4A1: Added comment: Additional evidence from PMID:30712878: De novo variant identified in COL4A1 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).; Changed publications: 30712878
18 Apr 2019	Fetal anomalies v0.185	WDR19	Rebecca Foulger edited their review of gene: WDR19: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in WDR19 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	TUBA1A	Rebecca Foulger edited their review of gene: TUBA1A: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in TUBA1A from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	TMEM67	Rebecca Foulger edited their review of gene: TMEM67: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in TMEM67 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	SOS1	Rebecca Foulger edited their review of gene: SOS1: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in SOS1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	RYR1	Rebecca Foulger edited their review of gene: RYR1: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in RYR1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	RIT1	Rebecca Foulger edited their review of gene: RIT1: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in RIT1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	RAPSN	Rebecca Foulger edited their review of gene: RAPSN: Added comment: Additional evidence from PMID:30266093: AR/homozygous variant identified in RAPSN from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	PTPN11	Rebecca Foulger edited their review of gene: PTPN11: Added comment: Additional evidence from PMID:30266093: AD/de novo mosaic variant and AD/de novo het variant identified in PTPN11 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	PKD1L1	Rebecca Foulger edited their review of gene: PKD1L1: Added comment: Additional evidence from PMID:30266093: AR/homozygous variant identified in PKD1L1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	PEX1	Rebecca Foulger edited their review of gene: PEX1: Added comment: Additional evidence from PMID:30266093: AR/comound het variant identified in PEX1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	P3H1	Rebecca Foulger edited their review of gene: P3H1: Added comment: Additional evidence from PMID:30266093: AR/homozygous variant identified in P3H1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	NIPBL	Rebecca Foulger edited their review of gene: NIPBL: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in NIPBL from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	MYH3	Rebecca Foulger edited their review of gene: MYH3: Added comment: Additional evidence from PMID:30266093: AD/inherited het (mosaic mother) variant identified in MYH3 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	MID1	Rebecca Foulger edited their review of gene: MID1: Added comment: Additional evidence from PMID:30266093: XL/hemizyogus (inherited from mildly affected mother) variant identified in MID1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	LAMC3	Rebecca Foulger edited their review of gene: LAMC3: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in LAMC3 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	KRAS	Rebecca Foulger edited their review of gene: KRAS: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in KRAS from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	KMT2D	Rebecca Foulger edited their review of gene: KMT2D: Added comment: Additional evidence from PMID:30266093: AD/de novo het, and AD/het variants identified in KMT2D from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	IFT80	Rebecca Foulger edited their review of gene: IFT80: Added comment: Additional evidence from PMID:30266093: AR/homozygous variant identified in IFT80 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	GLI3	Rebecca Foulger edited their review of gene: GLI3: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in GLI3 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	FBN1	Rebecca Foulger edited their review of gene: FBN1: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in FBN1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	DYNC2H1	Rebecca Foulger edited their review of gene: DYNC2H1: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in DYNC2H1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	DVL1	Rebecca Foulger edited their review of gene: DVL1: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in DVL1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	COL4A1	Rebecca Foulger edited their review of gene: COL4A1: Added comment: Additional evidence from PMID:30266093: AD/inherited het (mosaic mother) variant identified in COL4A1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	COL1A2	Rebecca Foulger edited their review of gene: COL1A2: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in COL1A2 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	COL1A1	Rebecca Foulger edited their review of gene: COL1A1: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in COL1A1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	COL11A1	Rebecca Foulger edited their review of gene: COL11A1: Added comment: Additional evidence from PMID:30266093: AD/de novo het variant identified in COL11A1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	CHRNG	Rebecca Foulger edited their review of gene: CHRNG: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in CHRNG from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	C5orf42	Rebecca Foulger edited their review of gene: C5orf42: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in C5orf42 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	AR	Rebecca Foulger edited their review of gene: AR: Added comment: Additional evidence from PMID:30266093: XL/hemizygous (maternally inherited) variant identified in AR from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	ALG12	Rebecca Foulger edited their review of gene: ALG12: Added comment: Additional evidence from PMID:30266093: AR/compound het variant identified in ALG12 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.185	ADGRG6	Rebecca Foulger edited their review of gene: ADGRG6: Added comment: Additional evidence from PMID:30266093: AR/homozygous het variant identified in ADGRG6 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).; Changed publications: 30266093
18 Apr 2019	Fetal anomalies v0.184	IFITM5	Rebecca Foulger edited their review of gene: IFITM5: Added comment: Additional evidence from PMID:29595812: De novovariant identified in IFITM5 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812
18 Apr 2019	Fetal anomalies v0.184	COL1A1	Rebecca Foulger edited their review of gene: COL1A1: Added comment: Additional evidence from PMID:29595812:Variants identified in COL1A1 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812). In one case, the variant is reported as a paternally-inherited VUS where no molecular diagnosis was made. In three cases the variants were De novo.; Changed publications: 29595812
18 Apr 2019	Fetal anomalies v0.184	GDF5	Rebecca Foulger edited their review of gene: GDF5: Added comment: Additional evidence from PMID:29595812:Maternally-inherited variant (VUS) identified in GDF5 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812). No molecular diagnosis made.; Changed publications: 29595812
18 Apr 2019	Fetal anomalies v0.184	RECQL4	Rebecca Foulger edited their review of gene: RECQL4: Added comment: Additional evidence from PMID:29595812:AR maternal variant identified in RECQL4 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812). No molecular diagnosis confirmed- single mutation in AR/recessive gene, suggestive of Baller-Gerold syndrome.; Changed publications: 29595812
18 Apr 2019	Fetal anomalies v0.184	FGFR3	Rebecca Foulger edited their review of gene: FGFR3: Added comment: Additional evidence from PMID:29595812:De novo variant identified in FGFR3 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812
18 Apr 2019	Fetal anomalies v0.184	EBP	Rebecca Foulger edited their review of gene: EBP: Added comment: Additional evidence from PMID:29595812:De novo variant identified in EBP from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812
18 Apr 2019	Fetal anomalies v0.184	WDR34	Rebecca Foulger edited their review of gene: WDR34: Added comment: Additional evidence from PMID:29595812:AR variant identified in WDR34 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812
18 Apr 2019	Fetal anomalies v0.184	RBM8A	Rebecca Foulger edited their review of gene: RBM8A: Added comment: Additional evidence from PMID:29595812:AR variant identified in RBM8A from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812
18 Apr 2019	Fetal anomalies v0.184	P3H1	Rebecca Foulger edited their review of gene: P3H1: Added comment: Additional evidence from PMID:29595812:AR Bi-parental-inherited variant identified in P3H1 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812
18 Apr 2019	Fetal anomalies v0.184	OBSL1	Rebecca Foulger edited their review of gene: OBSL1: Added comment: Additional evidence from PMID:29595812:AR Biparental-inherited variant identified in OBSL1 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812
18 Apr 2019	Fetal anomalies v0.184	COL1A2	Rebecca Foulger edited their review of gene: COL1A2: Added comment: Additional evidence from PMID:29595812:AD maternally inherited variant identified in COL1A2 from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812
18 Apr 2019	Fetal anomalies v0.184	ALPL	Rebecca Foulger edited their review of gene: ALPL: Added comment: Additional evidence from PMID:29595812:AD maternally inherited variant identified in ALPL from fetal exome sequencing in Chandler et al., 2018 (Rapid diagnosis of fetal skeletal dysplasia using targeted exome sequencing, PMID:29595812).; Changed publications: 29595812
18 Apr 2019	Fetal anomalies v0.183	CHRNG	Rebecca Foulger edited their review of gene: CHRNG: Added comment: Additional evidence from PAGE study: Diagnostic Homozygous/Compound heterozygous variants identified in CHRNG from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	RAPSN	Rebecca Foulger edited their review of gene: RAPSN: Added comment: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in RAPSN from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	RAB23	Rebecca Foulger edited their review of gene: RAB23: Added comment: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in RAB23 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	EVC2	Rebecca Foulger edited their review of gene: EVC2: Added comment: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in EVC2 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	DNAH11	Rebecca Foulger edited their review of gene: DNAH11: Added comment: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in DNAH11 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	CCDC103	Rebecca Foulger edited their review of gene: CCDC103: Added comment: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in CCDC103 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	B3GLCT	Rebecca Foulger edited their review of gene: B3GLCT: Added comment: Additional evidence from PAGE study: Diagnostic Homozgyous variant identified in B3GLCT from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	RIT1	Rebecca Foulger edited their review of gene: RIT1: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variants identified in RIT1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	PTPN11	Rebecca Foulger edited their review of gene: PTPN11: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variants identified in PTPN11 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	KMT2D	Rebecca Foulger edited their review of gene: KMT2D: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variants identified in KMT2D from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	FGFR3	Rebecca Foulger edited their review of gene: FGFR3: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variants identified in FGFR3 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	CHD7	Rebecca Foulger edited their review of gene: CHD7: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variants identified in CHD7 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	ZC4H2	Rebecca Foulger edited their review of gene: ZC4H2: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in ZC4H2 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	TUBB	Rebecca Foulger edited their review of gene: TUBB: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in TUBB from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	TFAP2A	Rebecca Foulger edited their review of gene: TFAP2A: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in TFAP2A from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	TAB2	Rebecca Foulger edited their review of gene: TAB2: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in TAB2 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	SOX9	Rebecca Foulger edited their review of gene: SOX9: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in SOX9 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	SOS1	Rebecca Foulger edited their review of gene: SOS1: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in SOS1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	SF3B4	Rebecca Foulger edited their review of gene: SF3B4: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in SF3B4 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	PIK3CA	Rebecca Foulger edited their review of gene: PIK3CA: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in PIK3CA from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	NRAS	Rebecca Foulger edited their review of gene: NRAS: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in NRAS from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	NR2F2	Rebecca Foulger edited their review of gene: NR2F2: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in NR2F2 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	NIPBL	Rebecca Foulger edited their review of gene: NIPBL: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in NIPBL from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	NALCN	Rebecca Foulger edited their review of gene: NALCN: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in NALCN from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	MYCN	Rebecca Foulger edited their review of gene: MYCN: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in MYCN from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	GATA4	Rebecca Foulger edited their review of gene: GATA4: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in GATA4 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	FLNB	Rebecca Foulger edited their review of gene: FLNB: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in FLNB from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	EPHB4	Rebecca Foulger edited their review of gene: EPHB4: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in EPHB4 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	CDKN1C	Rebecca Foulger edited their review of gene: CDKN1C: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in CDKN1C from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	BRAF	Rebecca Foulger edited their review of gene: BRAF: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in BRAF from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	ARCN1	Rebecca Foulger edited their review of gene: ARCN1: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in ARCN1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	ANKRD11	Rebecca Foulger edited their review of gene: ANKRD11: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous variant identified in ANKRD11 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	COL1A1	Rebecca Foulger edited their review of gene: COL1A1: Added comment: Additional evidence from PAGE study: Diagnostic Heterozygous varianst identified in COL1A1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	MID1	Rebecca Foulger edited their review of gene: MID1: Added comment: Additional evidence from PAGE study: Diagnostic Hemizygous variant identified in MID1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	RYR1	Rebecca Foulger edited their review of gene: RYR1: Added comment: Additional evidence from PAGE study: Diagnostic Compound heterozygous variants identified in RYR1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	PIEZO1	Rebecca Foulger edited their review of gene: PIEZO1: Added comment: Additional evidence from PAGE study: Diagnostic Compound heterozygous variants identified in PIEZO1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	DYNC2H1	Rebecca Foulger edited their review of gene: DYNC2H1: Added comment: Additional evidence from PAGE study: Diagnostic Compound heterozygous variants identified in DYNC2H1 from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	ACTB	Rebecca Foulger edited their review of gene: ACTB: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	KMT2A	Rebecca Foulger edited their review of gene: KMT2A: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	KIAA0586	Rebecca Foulger edited their review of gene: KIAA0586: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	ATRX	Rebecca Foulger edited their review of gene: ATRX: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	MBTPS2	Rebecca Foulger edited their review of gene: MBTPS2: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	RECQL4	Rebecca Foulger edited their review of gene: RECQL4: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	NSD1	Rebecca Foulger edited their review of gene: NSD1: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	FLNA	Rebecca Foulger edited their review of gene: FLNA: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.183	TUBA1A	Rebecca Foulger edited their review of gene: TUBA1A: Added comment: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetalexome sequencing inLord et al., 2019 (PMID:30712880).; Changed publications: 30712880
18 Apr 2019	Fetal anomalies v0.181	RAC1	Rebecca Foulger commented on gene: RAC1: Additional evidence from PMID:30712878: De novo variant identified in RAC1 from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).
18 Apr 2019	Fetal anomalies v0.180	SCN2A	Rebecca Foulger commented on gene: SCN2A: Additional evidence from PMID:30712878: De novo variant identified in SCN2A from fetal exome sequencing in Petrovski et al., 2019 (Whole-exome sequencing in the evaluation of fetal stuctural anomalies: a prospective cohort study, PMID:30712878).
18 Apr 2019	Fetal anomalies v0.179	HCCS	Rebecca Foulger commented on gene: HCCS: Additional evidence from PMID:30266093: XL/de novo het variant identified in HCCS from fetal exome sequencing in Normand et al., 2018 (PMID:30266093).
18 Apr 2019	Fetal anomalies v0.178	DDX3X	Rebecca Foulger commented on gene: DDX3X: Additional evidence from PMID:30266093: XL, de novo het variant identified in DDX3X from fetal exome sequencing in Normand et al., 2018 (PMID:30266093).
18 Apr 2019	Fetal anomalies v0.177	ACTA1	Rebecca Foulger commented on gene: ACTA1: Additional evidence from PMID:30266093: AD/de novo het variant identified in ACTA1 from fetal exome sequencing in Normand et al., 2018 (Clinical exome sequencing for fetuses with ultrasound abnormalities and a suspected Mendelian disorder, PMID:30266093).
18 Apr 2019	Fetal anomalies v0.176	GBA	Rebecca Foulger commented on gene: GBA: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in GBA from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
18 Apr 2019	Fetal anomalies v0.175	TCTN2	Rebecca Foulger commented on gene: TCTN2: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in TCTN2 from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
18 Apr 2019	Fetal anomalies v0.174	COQ9	Rebecca Foulger commented on gene: COQ9: Additional evidence from PAGE study: Diagnostic Homozygous variant identified in COQ9 from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
18 Apr 2019	Fetal anomalies v0.173	BCS1L	Rebecca Foulger commented on gene: BCS1L: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
18 Apr 2019	Fetal anomalies v0.172	PROK2	Rebecca Foulger commented on gene: PROK2: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
18 Apr 2019	Fetal anomalies v0.171	PACS1	Rebecca Foulger commented on gene: PACS1: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
18 Apr 2019	Fetal anomalies v0.170	ROBO1	Rebecca Foulger commented on gene: ROBO1: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
18 Apr 2019	Fetal anomalies v0.169	MECP2	Rebecca Foulger commented on gene: MECP2: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
18 Apr 2019	Fetal anomalies v0.168	KCNQ2	Rebecca Foulger commented on gene: KCNQ2: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
18 Apr 2019	Fetal anomalies v0.167	HYDIN	Rebecca Foulger commented on gene: HYDIN: Additional evidence from PAGE study: Potentially clinically useful variant identified in this gene from fetal exome sequencing in Lord et al., 2019 (PMID:30712880).
18 Apr 2019	Fetal anomalies v0.166	UMPS	Rebecca Foulger edited their review of gene: UMPS: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Although it is unclear which phenotype presents when, it is best to include on the panel.; Changed rating: GREEN
18 Apr 2019	Fetal anomalies v0.166	SLC35C1	Rebecca Foulger edited their review of gene: SLC35C1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN
18 Apr 2019	Fetal anomalies v0.166	SLC2A1	Rebecca Foulger edited their review of gene: SLC2A1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
18 Apr 2019	Fetal anomalies v0.166	SLC25A20	Rebecca Foulger edited their review of gene: SLC25A20: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Although it is unclear which phenotype presents when, it is best to include on the panel.; Changed rating: GREEN
18 Apr 2019	Fetal anomalies v0.166	PPT1	Rebecca Foulger edited their review of gene: PPT1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Microcephaly phenotype presents postnatally. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
18 Apr 2019	Fetal anomalies v0.166	QDPR	Rebecca Foulger edited their review of gene: QDPR: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Although not explicitly stated, microcephaly is implied to be progressive. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
18 Apr 2019	Fetal anomalies v0.166	DLAT	Rebecca Foulger edited their review of gene: DLAT: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Present early but microcephaly is acquired. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
18 Apr 2019	Fetal anomalies v0.166	TPP1	Rebecca Foulger edited their review of gene: TPP1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Probably won't present prenatally. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
18 Apr 2019	Fetal anomalies v0.166	TMEM165	Rebecca Foulger edited their review of gene: TMEM165: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: OMIM phenotypes include growth retardation, and most had short stature. Other features included dysmorphism, hypotonia, eye abnormalities, acquired microcephaly, hepatomegaly, and skeletal dysplasia.; Changed rating: GREEN
18 Apr 2019	Fetal anomalies v0.166	PTS	Rebecca Foulger edited their review of gene: PTS: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN
18 Apr 2019	Fetal anomalies v0.166	AUH	Rebecca Foulger edited their review of gene: AUH: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Progressive disorder with late onset (30yrs) in some patients. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
18 Apr 2019	Fetal anomalies v0.166	ASS1	Rebecca Foulger edited their review of gene: ASS1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN
18 Apr 2019	Fetal anomalies v0.166	SAMHD1	Rebecca Foulger edited their review of gene: SAMHD1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN
18 Apr 2019	Fetal anomalies v0.166	PSAP	Rebecca Foulger edited their review of gene: PSAP: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN
18 Apr 2019	Fetal anomalies v0.166	ARSA	Rebecca Foulger edited their review of gene: ARSA: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Can cause leukodystrophy.; Changed rating: GREEN
18 Apr 2019	Fetal anomalies v0.166	EMD	Rebecca Foulger edited their review of gene: EMD: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN; Changed publications: 26247046
18 Apr 2019	Fetal anomalies v0.166	SMN1	Rebecca Foulger edited their review of gene: SMN1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green.; Changed rating: GREEN
18 Apr 2019	Fetal anomalies v0.166	TCN2	Rebecca Foulger edited their review of gene: TCN2: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Post-natal onset. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
18 Apr 2019	Fetal anomalies v0.166	PHOX2B	Rebecca Foulger edited their review of gene: PHOX2B: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Hirschsprung disease would present in infancy.; Changed rating: GREEN
18 Apr 2019	Fetal anomalies v0.166	TRAPPC2	Rebecca Foulger edited their review of gene: TRAPPC2: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Age of onset is 5-10 years. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
18 Apr 2019	Fetal anomalies v0.166	IQSEC2	Rebecca Foulger edited their review of gene: IQSEC2: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
18 Apr 2019	Fetal anomalies v0.166	HYDIN	Rebecca Foulger edited their review of gene: HYDIN: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Primary Ciliary Dyskinesia (PCD) but can exclude from causing situs defects. According to PMID:30166424 (Best et al., 2019) plus email correspondance from Hannah Mitchison (UCL), there is fairly firm evidence that mutations in HYDIN cause PCD without laterality defects/Situs Invertis. Variant flagged as Potentially Clinically Useful from PAGE study. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
18 Apr 2019	Fetal anomalies v0.166	LAMP2	Rebecca Foulger edited their review of gene: LAMP2: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Diagnosis is in childhood. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
18 Apr 2019	Fetal anomalies v0.166	PPA2	Rebecca Foulger edited their review of gene: PPA2: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotype is not morphological. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
18 Apr 2019	Fetal anomalies v0.166	DSP	Rebecca Foulger edited their review of gene: DSP: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include because tooth agenesis can be detected prenatally.; Changed rating: GREEN; Changed publications: 30993396
18 Apr 2019	Fetal anomalies v0.166	GAS8	Rebecca Foulger edited their review of gene: GAS8: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Primary Ciliary Dyskinesia (PCD) but highly unlikely to cause situs defects. According to PMID:30166424 (Best et al., 2019), GAS8 has not previously been associated with Situs defects in the literature. Plus email correspondance from Hannah Mitchison (UCL) that mutations in GAS8 are not associated with laterality defects, including in mice. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED; Changed publications: 30166424
18 Apr 2019	Fetal anomalies v0.166	CCDC65	Rebecca Foulger edited their review of gene: CCDC65: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Primary Ciliary Dyskinesia (PCD) but highly unlikely to cause situs defects. According to PMID:30166424 (Best et al., 2019), CCDC65 (DRC2) has not previously been associated with Situs defects in the literature. Plus email correspondance from Hannah Mitchison (UCL) that mutations in CCDC65/DRC2 are not associated with laterality defects, including in mice. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED; Changed publications: 30166424
18 Apr 2019	Fetal anomalies v0.166	CCNO	Rebecca Foulger edited their review of gene: CCNO: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Primary Ciliary Dyskinesia (PCD) but can exclude from causing situs defects. According to PMID:30166424 (Best et al., 2019) plus email correspondance from Hannah Mitchison (UCL), there is fairly firm evidence that mutations in CCNO cause PCD without laterality defects/Situs Invertis. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED; Changed publications: 30166424
18 Apr 2019	Fetal anomalies v0.166	RSPH3	Rebecca Foulger edited their review of gene: RSPH3: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Primary Ciliary Dyskinesia (PCD) but can exclude from causing situs defects. According to PMID:30166424 (Best et al., 2019), RSPH3 has not previously been associated with Situs defects in the literature. Plus email correspondance from Hannah Mitchison (UCL) that there is fairly firm evidence that mutations in RSPH3 cause PCD without laterality defects/Situs Invertis. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED; Changed publications: 30166424
18 Apr 2019	Fetal anomalies v0.166	RSPH1	Rebecca Foulger edited their review of gene: RSPH1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Primary Ciliary Dyskinesia (PCD) but can exclude from causing situs defects. According to PMID:30166424 (Best et al., 2019) plus email correspondance from Hannah Mitchison (UCL), there is fairly firm evidence that mutations in RSPH1 cause PCD without laterality defects/Situs Invertis. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED; Changed publications: 30166424
18 Apr 2019	Fetal anomalies v0.166	TBXAS1	Rebecca Foulger edited their review of gene: TBXAS1: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Storage disorder. Progressive phenotype that presents later in childhood. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
18 Apr 2019	Fetal anomalies v0.166	AGPAT2	Rebecca Foulger edited their review of gene: AGPAT2: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Lipodystrophy. No obvious pre-natal phenotype. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED; Changed publications: 22902344
18 Apr 2019	Fetal anomalies v0.166	OTULIN	Rebecca Foulger edited their review of gene: OTULIN: Added comment: This gene and phenotype were discussed during review of borderline cases in April 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Lipodystrophy. Early treatment could be helpful but no obvious detectable prenatal phenotype. Action taken: Demoted gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	SLX4	Rebecca Foulger commented on gene: SLX4: Sufficient unrelated cases in OMIM supporting a link between SLX4 variants and Fanconi anaemia, including a Dutch boy and 3 German siblings from PMID:21240277, and a 15 year old Indian girl and a 22 year old male from PMID:21240275- the compound het variants in the 22 yr old male included a large genomic deletion.
04 Apr 2019	Fetal anomalies v0.161	ZC4H2	Rebecca Foulger edited their review of gene: ZC4H2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SAMD9	Rebecca Foulger edited their review of gene: SAMD9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Note that MOI for AD may be GOF and associated AR condition is not fetally relevant.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SLC10A7	Rebecca Foulger edited their review of gene: SLC10A7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TRAF7	Rebecca Foulger edited their review of gene: TRAF7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SLC52A2	Rebecca Foulger edited their review of gene: SLC52A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC52A2 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	STAG2	Rebecca Foulger edited their review of gene: STAG2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	UFC1	Rebecca Foulger edited their review of gene: UFC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UFC1 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	TRIP4	Rebecca Foulger commented on gene: TRIP4: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
04 Apr 2019	Fetal anomalies v0.161	TPM2	Rebecca Foulger edited their review of gene: TPM2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TBX18	Rebecca Foulger commented on gene: TBX18: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
04 Apr 2019	Fetal anomalies v0.161	RBPJ	Rebecca Foulger commented on gene: RBPJ: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
04 Apr 2019	Fetal anomalies v0.161	NOTCH1	Rebecca Foulger commented on gene: NOTCH1: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
04 Apr 2019	Fetal anomalies v0.161	LGI4	Rebecca Foulger commented on gene: LGI4: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
04 Apr 2019	Fetal anomalies v0.161	GLDN	Rebecca Foulger commented on gene: GLDN: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
04 Apr 2019	Fetal anomalies v0.161	EPHB4	Rebecca Foulger commented on gene: EPHB4: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
04 Apr 2019	Fetal anomalies v0.161	DOCK6	Rebecca Foulger commented on gene: DOCK6: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
04 Apr 2019	Fetal anomalies v0.161	CNTNAP1	Rebecca Foulger commented on gene: CNTNAP1: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
04 Apr 2019	Fetal anomalies v0.161	CHRNA1	Rebecca Foulger edited their review of gene: CHRNA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	CFC1	Rebecca Foulger edited their review of gene: CFC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	ARHGAP31	Rebecca Foulger commented on gene: ARHGAP31: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
04 Apr 2019	Fetal anomalies v0.161	ARCN1	Rebecca Foulger edited their review of gene: ARCN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	AKT3	Rebecca Foulger commented on gene: AKT3: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.
04 Apr 2019	Fetal anomalies v0.161	TWIST2	Rebecca Foulger edited their review of gene: TWIST2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TCTN1	Rebecca Foulger edited their review of gene: TCTN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TBC1D20	Rebecca Foulger edited their review of gene: TBC1D20: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	MAGEL2	Rebecca Foulger edited their review of gene: MAGEL2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	KMT2C	Rebecca Foulger edited their review of gene: KMT2C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	IL11RA	Rebecca Foulger edited their review of gene: IL11RA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	IFIH1	Rebecca Foulger edited their review of gene: IFIH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Change mode of inheritance back to monoallelic because both these conditions are AD inheritance- previous change to biallelic was most likely a misunderstanding.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	ERCC4	Rebecca Foulger edited their review of gene: ERCC4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	DNAH5	Rebecca Foulger edited their review of gene: DNAH5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	ATAD3A	Rebecca Foulger edited their review of gene: ATAD3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	PIEZO1	Rebecca Foulger edited their review of gene: PIEZO1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	ACTB	Rebecca Foulger edited their review of gene: ACTB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	KYNU	Rebecca Foulger edited their review of gene: KYNU: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	HAAO	Rebecca Foulger edited their review of gene: HAAO: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	ZNF711	Rebecca Foulger edited their review of gene: ZNF711: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Onset in childhood, progressive. Action taken: Demoted ZNF711 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	ZMPSTE24	Rebecca Foulger edited their review of gene: ZMPSTE24: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	ZIC3	Rebecca Foulger edited their review of gene: ZIC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	ZIC2	Rebecca Foulger edited their review of gene: ZIC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	ZIC1	Rebecca Foulger edited their review of gene: ZIC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	ZFYVE26	Rebecca Foulger edited their review of gene: ZFYVE26: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Thin corpus callosum only. Onset in childhood, progressive. Action taken: Demoted ZFYVE26 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	ZEB2	Rebecca Foulger edited their review of gene: ZEB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	ZDHHC9	Rebecca Foulger edited their review of gene: ZDHHC9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ZDHHC9 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	ZBTB20	Rebecca Foulger edited their review of gene: ZBTB20: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	ZBTB18	Rebecca Foulger edited their review of gene: ZBTB18: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	YY1	Rebecca Foulger edited their review of gene: YY1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Phenotype is a bit non-specific, but various structural phenotypes have been reported.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	XYLT1	Rebecca Foulger edited their review of gene: XYLT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	XRCC4	Rebecca Foulger edited their review of gene: XRCC4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	XPC	Rebecca Foulger edited their review of gene: XPC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted XPC gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	XPA	Rebecca Foulger edited their review of gene: XPA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted XPA gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	WT1	Rebecca Foulger edited their review of gene: WT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	WNT7A	Rebecca Foulger edited their review of gene: WNT7A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	WNT5A	Rebecca Foulger edited their review of gene: WNT5A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	WNT10B	Rebecca Foulger edited their review of gene: WNT10B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	WNT1	Rebecca Foulger edited their review of gene: WNT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	WDR62	Rebecca Foulger edited their review of gene: WDR62: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	WDR60	Rebecca Foulger edited their review of gene: WDR60: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	WDR45	Rebecca Foulger edited their review of gene: WDR45: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Iron deposition, doesn't seem to present prenatally. Action taken: Demoted WDR45 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	WDR35	Rebecca Foulger edited their review of gene: WDR35: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	WDR34	Rebecca Foulger edited their review of gene: WDR34: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	WDR26	Rebecca Foulger edited their review of gene: WDR26: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Various structural brain malformations.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	WDR11	Rebecca Foulger edited their review of gene: WDR11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted WDR11 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	WDPCP	Rebecca Foulger edited their review of gene: WDPCP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	VSX2	Rebecca Foulger edited their review of gene: VSX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	VPS33B	Rebecca Foulger edited their review of gene: VPS33B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	VLDLR	Rebecca Foulger edited their review of gene: VLDLR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	VIPAS39	Rebecca Foulger edited their review of gene: VIPAS39: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	UVSSA	Rebecca Foulger edited their review of gene: UVSSA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UVSSA gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	UROS	Rebecca Foulger edited their review of gene: UROS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UROS gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	UROC1	Rebecca Foulger edited their review of gene: UROC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UROC1 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	UNC80	Rebecca Foulger edited their review of gene: UNC80: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UNC80 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	UGT1A1	Rebecca Foulger edited their review of gene: UGT1A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UGT1A1 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	UBR1	Rebecca Foulger edited their review of gene: UBR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	UBE3B	Rebecca Foulger edited their review of gene: UBE3B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	UBE3A	Rebecca Foulger edited their review of gene: UBE3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted UBE3A gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	TYRP1	Rebecca Foulger edited their review of gene: TYRP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TYRP1 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	TYR	Rebecca Foulger edited their review of gene: TYR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TYR gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	TXNL4A	Rebecca Foulger edited their review of gene: TXNL4A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TWIST1	Rebecca Foulger edited their review of gene: TWIST1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TUSC3	Rebecca Foulger edited their review of gene: TUSC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TUSC3 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	TUBGCP6	Rebecca Foulger edited their review of gene: TUBGCP6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TUBB2B	Rebecca Foulger edited their review of gene: TUBB2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TUBB	Rebecca Foulger edited their review of gene: TUBB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TUBA8	Rebecca Foulger edited their review of gene: TUBA8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TUBA1A	Rebecca Foulger edited their review of gene: TUBA1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TTC8	Rebecca Foulger edited their review of gene: TTC8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TTC7A	Rebecca Foulger edited their review of gene: TTC7A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TTC37	Rebecca Foulger edited their review of gene: TTC37: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TSPAN7	Rebecca Foulger edited their review of gene: TSPAN7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TSPAN7 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	TSHR	Rebecca Foulger edited their review of gene: TSHR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TSHR gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	TSEN54	Rebecca Foulger edited their review of gene: TSEN54: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TSC2	Rebecca Foulger edited their review of gene: TSC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TSC1	Rebecca Foulger edited their review of gene: TSC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TRPS1	Rebecca Foulger edited their review of gene: TRPS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TRPM1	Rebecca Foulger edited their review of gene: TRPM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TRPM1 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	TRIP11	Rebecca Foulger edited their review of gene: TRIP11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TRIM37	Rebecca Foulger edited their review of gene: TRIM37: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TREX1	Rebecca Foulger edited their review of gene: TREX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TP63	Rebecca Foulger edited their review of gene: TP63: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TMPRSS6	Rebecca Foulger edited their review of gene: TMPRSS6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TMPRSS6 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	TMEM5	Rebecca Foulger edited their review of gene: TMEM5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TMEM237	Rebecca Foulger edited their review of gene: TMEM237: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TINF2	Rebecca Foulger edited their review of gene: TINF2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: CNS features.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	THRA	Rebecca Foulger edited their review of gene: THRA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	THOC6	Rebecca Foulger edited their review of gene: THOC6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TH	Rebecca Foulger edited their review of gene: TH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TH gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	TGDS	Rebecca Foulger edited their review of gene: TGDS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TFAP2A	Rebecca Foulger edited their review of gene: TFAP2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TCTN3	Rebecca Foulger edited their review of gene: TCTN3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TCOF1	Rebecca Foulger edited their review of gene: TCOF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TCF4	Rebecca Foulger edited their review of gene: TCF4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TCF12	Rebecca Foulger edited their review of gene: TCF12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TBX5	Rebecca Foulger edited their review of gene: TBX5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TBX4	Rebecca Foulger edited their review of gene: TBX4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TBX3	Rebecca Foulger edited their review of gene: TBX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TBX20	Rebecca Foulger edited their review of gene: TBX20: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TBX15	Rebecca Foulger edited their review of gene: TBX15: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TBX1	Rebecca Foulger edited their review of gene: TBX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TBCK	Rebecca Foulger edited their review of gene: TBCK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TBC1D24	Rebecca Foulger edited their review of gene: TBC1D24: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TBC1D23	Rebecca Foulger edited their review of gene: TBC1D23: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TAZ	Rebecca Foulger edited their review of gene: TAZ: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	TAT	Rebecca Foulger edited their review of gene: TAT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted TAT gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	TAB2	Rebecca Foulger edited their review of gene: TAB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SYP	Rebecca Foulger edited their review of gene: SYP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted SYP gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	SYNGAP1	Rebecca Foulger edited their review of gene: SYNGAP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted SYNGAP1 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	SUCLG1	Rebecca Foulger edited their review of gene: SUCLG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Has presented prenatally (PMID:21093335); Changed rating: GREEN; Changed publications: 21093335
04 Apr 2019	Fetal anomalies v0.161	STXBP1	Rebecca Foulger edited their review of gene: STXBP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted STXBP1 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	STS	Rebecca Foulger edited their review of gene: STS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Cutaneous patches only. Action taken: Demoted STS gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	STRA6	Rebecca Foulger edited their review of gene: STRA6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	STAR	Rebecca Foulger edited their review of gene: STAR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	STAMBP	Rebecca Foulger edited their review of gene: STAMBP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	STAG1	Rebecca Foulger edited their review of gene: STAG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted STAG1 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	SRY	Rebecca Foulger edited their review of gene: SRY: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SRD5A3	Rebecca Foulger edited their review of gene: SRD5A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SRCAP	Rebecca Foulger edited their review of gene: SRCAP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SPEG	Rebecca Foulger edited their review of gene: SPEG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Severe phenotype with onset in infancy so assume contractures etc could present prenatally.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SPAG1	Rebecca Foulger edited their review of gene: SPAG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SOX3	Rebecca Foulger edited their review of gene: SOX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Structural pitiutary abnormalities reported.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SOX2	Rebecca Foulger edited their review of gene: SOX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SOX17	Rebecca Foulger edited their review of gene: SOX17: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SOS1	Rebecca Foulger edited their review of gene: SOS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SON	Rebecca Foulger edited their review of gene: SON: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SNX14	Rebecca Foulger edited their review of gene: SNX14: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SNRPB	Rebecca Foulger edited their review of gene: SNRPB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SMPD1	Rebecca Foulger edited their review of gene: SMPD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SMPD1 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	SMOC1	Rebecca Foulger edited their review of gene: SMOC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SMC3	Rebecca Foulger edited their review of gene: SMC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SMC1A	Rebecca Foulger edited their review of gene: SMC1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SMARCB1	Rebecca Foulger edited their review of gene: SMARCB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SMARCA4	Rebecca Foulger edited their review of gene: SMARCA4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SLX4	Rebecca Foulger edited their review of gene: SLX4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: yes providing sufficient evidence.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SLC6A5	Rebecca Foulger edited their review of gene: SLC6A5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC6A5 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	SLC6A3	Rebecca Foulger edited their review of gene: SLC6A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC6A3 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	SLC6A1	Rebecca Foulger edited their review of gene: SLC6A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC6A1 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	SLC5A5	Rebecca Foulger edited their review of gene: SLC5A5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC5A5 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	SLC52A3	Rebecca Foulger edited their review of gene: SLC52A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC52A3 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	SLC46A1	Rebecca Foulger edited their review of gene: SLC46A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC46A1 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	SLC35D1	Rebecca Foulger edited their review of gene: SLC35D1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SLC33A1	Rebecca Foulger edited their review of gene: SLC33A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SLC2A2	Rebecca Foulger edited their review of gene: SLC2A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC2A2 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	SLC27A4	Rebecca Foulger edited their review of gene: SLC27A4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SLC26A2	Rebecca Foulger edited their review of gene: SLC26A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SLC25A24	Rebecca Foulger edited their review of gene: SLC25A24: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SLC25A15	Rebecca Foulger edited their review of gene: SLC25A15: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC25A15 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	SLC22A5	Rebecca Foulger edited their review of gene: SLC22A5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC22A5 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	SLC19A3	Rebecca Foulger edited their review of gene: SLC19A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SLC19A3 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	SLC17A5	Rebecca Foulger edited their review of gene: SLC17A5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Hydrops in infantile form.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SLC16A2	Rebecca Foulger edited their review of gene: SLC16A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SLC13A5	Rebecca Foulger edited their review of gene: SLC13A5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SKI	Rebecca Foulger edited their review of gene: SKI: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SIX5	Rebecca Foulger edited their review of gene: SIX5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SIX3	Rebecca Foulger edited their review of gene: SIX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SIL1	Rebecca Foulger edited their review of gene: SIL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SIK1	Rebecca Foulger edited their review of gene: SIK1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SIK1 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	SHOX	Rebecca Foulger edited their review of gene: SHOX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SHOC2	Rebecca Foulger edited their review of gene: SHOC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SHH	Rebecca Foulger edited their review of gene: SHH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SH3PXD2B	Rebecca Foulger edited their review of gene: SH3PXD2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SF3B4	Rebecca Foulger edited their review of gene: SF3B4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SETBP1	Rebecca Foulger edited their review of gene: SETBP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SEC23B	Rebecca Foulger edited their review of gene: SEC23B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SDCCAG8	Rebecca Foulger edited their review of gene: SDCCAG8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SCN8A	Rebecca Foulger edited their review of gene: SCN8A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SCN8A gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	SCN2A	Rebecca Foulger edited their review of gene: SCN2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SCN2A gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	SCN1B	Rebecca Foulger edited their review of gene: SCN1B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SCN1B gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	SCN1A	Rebecca Foulger edited their review of gene: SCN1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SCN1A gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	SCN11A	Rebecca Foulger edited their review of gene: SCN11A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted SCN11A gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.161	SCARF2	Rebecca Foulger edited their review of gene: SCARF2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SC5D	Rebecca Foulger edited their review of gene: SC5D: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SATB2	Rebecca Foulger edited their review of gene: SATB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SALL4	Rebecca Foulger edited their review of gene: SALL4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	SALL1	Rebecca Foulger edited their review of gene: SALL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.161	RYR1	Rebecca Foulger edited their review of gene: RYR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.158	TBX22	Rebecca Foulger Added comment: Comment on phenotypes: Added '?Abruzzo-Erickson syndrome, 302905' based on OMIM and clinical review that Abruzzo-Erickson syndrome phenotype is clinically relevant. Kept the question-mark because evidence for this gene:disease association is limited (1 family reported in Pauws et al., 2013 (PMID:22784330).
04 Apr 2019	Fetal anomalies v0.157	SAMD9	Rebecca Foulger Added comment: Comment on mode of inheritance: Kept Mode of inheritance as 'monoallelic' following review of the gene by Anna de Burca (Genomics England) and Rhiannon Mellis (GOSH) in March 2019. They note that the associated AR condition (Tumoral calcinosis, familial, normophosphatemic, MIM:610455) is not fetally relevant.
04 Apr 2019	Fetal anomalies v0.156	SAMD9	Rebecca Foulger Added comment: Comment on mode of pathogenicity: Changed the Mode of Pathogenicity to 'Other' following review of the gene by Anna de Burca (Genomics England) and Rhiannon Mellis (GOSH) in March 2019. They note that the AD inheritance may be gain-of-function.
04 Apr 2019	Fetal anomalies v0.155	IFIH1	Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI back to 'monoallelic' following review by Anna de Burca (Genomics England) and Rhiannon Mellis (GOSH) in March 2019: both associated disorders (Aicardi-Goutieres syndrome 7 and 'Singleton-Merten syndrome 1) have monoallelic inheritance. The original switch to biallelic inheritance was probably due to a misunderstanding.
04 Apr 2019	Fetal anomalies v0.154	RARS2	Rebecca Foulger Publications for gene RARS2 were changed from to 26083569
04 Apr 2019	Fetal anomalies v0.153	RNU4ATAC	Rebecca Foulger edited their review of gene: RNU4ATAC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	RNASET2	Rebecca Foulger edited their review of gene: RNASET2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	RMRP	Rebecca Foulger edited their review of gene: RMRP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Rhizomelic limb shortening.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	RFX6	Rebecca Foulger edited their review of gene: RFX6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	RETREG1	Rebecca Foulger edited their review of gene: RETREG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted RETREG1 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.153	RERE	Rebecca Foulger edited their review of gene: RERE: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	RELN	Rebecca Foulger edited their review of gene: RELN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	RECQL4	Rebecca Foulger edited their review of gene: RECQL4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	RBM8A	Rebecca Foulger edited their review of gene: RBM8A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	RAX	Rebecca Foulger edited their review of gene: RAX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	RASA1	Rebecca Foulger edited their review of gene: RASA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	RARS2	Rebecca Foulger edited their review of gene: RARS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN; Changed publications: 26083569
04 Apr 2019	Fetal anomalies v0.153	RARB	Rebecca Foulger edited their review of gene: RARB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	RAI1	Rebecca Foulger edited their review of gene: RAI1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	RAF1	Rebecca Foulger edited their review of gene: RAF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	RAD21	Rebecca Foulger edited their review of gene: RAD21: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Also one family reported with biallelic inheritance, Mungan syndrome (MIM:611376).; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	RAB3GAP2	Rebecca Foulger edited their review of gene: RAB3GAP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	RAB3GAP1	Rebecca Foulger edited their review of gene: RAB3GAP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	RAB23	Rebecca Foulger edited their review of gene: RAB23: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	RAB18	Rebecca Foulger edited their review of gene: RAB18: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	QRICH1	Rebecca Foulger edited their review of gene: QRICH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Only 5 cases reported so far so phenotype is not that well-characterised yet. Some dysmorphic features may be detectable prenatally- one case had IUGR, and another had severe microcephaly.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PYGL	Rebecca Foulger edited their review of gene: PYGL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PYGL gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.153	PYCR1	Rebecca Foulger edited their review of gene: PYCR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: An unpublished case presented with IUGR, Microcephaly, hydronephrosis, echogenic kidney, hypoplastic nasal bone. Long bones short and bowed, ambigious genitalia, megalourethra, thickened bladder wall. OMIM phenotypes include IUGR, microcephaly, long bone bowing and agenesis of the corpus callosum (ACC).; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PURA	Rebecca Foulger edited their review of gene: PURA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Nothing structural- delayed/hypomyelination only. Action taken: Demoted PURA gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.153	PUF60	Rebecca Foulger edited their review of gene: PUF60: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PTH1R	Rebecca Foulger edited their review of gene: PTH1R: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PTF1A	Rebecca Foulger edited their review of gene: PTF1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PTDSS1	Rebecca Foulger edited their review of gene: PTDSS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PTCHD1	Rebecca Foulger edited their review of gene: PTCHD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted PTCHD1 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.153	PTCH1	Rebecca Foulger edited their review of gene: PTCH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PSPH	Rebecca Foulger edited their review of gene: PSPH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Neu-Laxova syndrome would present prenatally, but probably not the milder Phosphoserine phosphatase deficiency.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PRDM12	Rebecca Foulger edited their review of gene: PRDM12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PRDM12 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.153	PQBP1	Rebecca Foulger edited their review of gene: PQBP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PPP2R5D	Rebecca Foulger edited their review of gene: PPP2R5D: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Could present as ventriculomegaly.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PPP2R1A	Rebecca Foulger edited their review of gene: PPP2R1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PPP1CB	Rebecca Foulger edited their review of gene: PPP1CB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	POU1F1	Rebecca Foulger edited their review of gene: POU1F1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PORCN	Rebecca Foulger edited their review of gene: PORCN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PGAP2	Rebecca Foulger edited their review of gene: PGAP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PEX7	Rebecca Foulger edited their review of gene: PEX7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PEX6	Rebecca Foulger edited their review of gene: PEX6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PEX5	Rebecca Foulger edited their review of gene: PEX5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PEX3	Rebecca Foulger edited their review of gene: PEX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PEX26	Rebecca Foulger edited their review of gene: PEX26: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PEX2	Rebecca Foulger edited their review of gene: PEX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PEX19	Rebecca Foulger edited their review of gene: PEX19: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PEX16	Rebecca Foulger edited their review of gene: PEX16: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PEX13	Rebecca Foulger edited their review of gene: PEX13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PEX11B	Rebecca Foulger edited their review of gene: PEX11B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PEX10	Rebecca Foulger edited their review of gene: PEX10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PDGFRB	Rebecca Foulger edited their review of gene: PDGFRB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PDE6G	Rebecca Foulger edited their review of gene: PDE6G: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PDE6G gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.153	PDE4D	Rebecca Foulger edited their review of gene: PDE4D: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Midface hypoplasia and severe brachydactyly.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PCYT1A	Rebecca Foulger edited their review of gene: PCYT1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PCNT	Rebecca Foulger edited their review of gene: PCNT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PCDH19	Rebecca Foulger edited their review of gene: PCDH19: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted PCDH19 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.153	PCCB	Rebecca Foulger edited their review of gene: PCCB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Probably all features are secondary to the metabolite accumulation postnatally. Action taken: Demoted PCCB gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.153	PCCA	Rebecca Foulger edited their review of gene: PCCA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Probably all features are secondary to the metabolite accumulation postnatally. Action taken: Demoted PCCA gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.153	PCBD1	Rebecca Foulger edited their review of gene: PCBD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PCBD1 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.153	PAX9	Rebecca Foulger edited their review of gene: PAX9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PAX9 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.153	PAX3	Rebecca Foulger edited their review of gene: PAX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PAX2	Rebecca Foulger edited their review of gene: PAX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PARN	Rebecca Foulger edited their review of gene: PARN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Cerebellar hypoplasia.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PAPSS2	Rebecca Foulger edited their review of gene: PAPSS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PALB2	Rebecca Foulger edited their review of gene: PALB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	PAK3	Rebecca Foulger edited their review of gene: PAK3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN; Changed publications: 24556213
04 Apr 2019	Fetal anomalies v0.153	PAH	Rebecca Foulger edited their review of gene: PAH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural abnormalities. Action taken: Demoted PAH gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.153	PAFAH1B1	Rebecca Foulger edited their review of gene: PAFAH1B1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	P3H1	Rebecca Foulger edited their review of gene: P3H1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	OXCT1	Rebecca Foulger edited their review of gene: OXCT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotype is ketoacidosis, nothing structural. Action taken: Demoted OXCT1 gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.153	OTX2	Rebecca Foulger edited their review of gene: OTX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	OTOGL	Rebecca Foulger edited their review of gene: OTOGL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotypes aren't structural (Nonsyndromic sensorineural deafness). Action taken: Demoted OTOGL gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.153	OTC	Rebecca Foulger edited their review of gene: OTC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotypes are not structural- entirely metabolic and only presents when feeding begins. Action taken: Demoted OTC gene rating from Green to Red.; Changed rating: RED
04 Apr 2019	Fetal anomalies v0.153	ORC6	Rebecca Foulger edited their review of gene: ORC6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	ORC4	Rebecca Foulger edited their review of gene: ORC4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	ORC1	Rebecca Foulger edited their review of gene: ORC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	OPHN1	Rebecca Foulger edited their review of gene: OPHN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	OCRL	Rebecca Foulger edited their review of gene: OCRL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
04 Apr 2019	Fetal anomalies v0.153	OBSL1	Rebecca Foulger edited their review of gene: OBSL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
03 Apr 2019	Fetal anomalies v0.152	COL6A2	Rebecca Foulger commented on gene: COL6A2: COL6A2 was added to the panel from the Additional PAGE list, where it is listed with both monoallelic and biallelic inheritance and Confirmed DD-G2P ratings for both. In OMIM, inheritance is listed as 'AR and AD' for both 'Bethlem myopathy 1, 158810' and 'Ullrich congenital muscular dystrophy 1, 254090'
01 Apr 2019	Fetal anomalies v0.150	RUNX2	Rebecca Foulger edited their review of gene: RUNX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	RTN4IP1	Rebecca Foulger edited their review of gene: RTN4IP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted RTN4IP1 gene rating from Green to Red.; Changed rating: RED
01 Apr 2019	Fetal anomalies v0.150	RTEL1	Rebecca Foulger edited their review of gene: RTEL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	RSPO4	Rebecca Foulger edited their review of gene: RSPO4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted RSPO4 gene rating from Green to Red.; Changed rating: RED
01 Apr 2019	Fetal anomalies v0.150	RPS6KA3	Rebecca Foulger edited their review of gene: RPS6KA3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	RPS19	Rebecca Foulger edited their review of gene: RPS19: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	RPGRIP1L	Rebecca Foulger edited their review of gene: RPGRIP1L: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	ROR2	Rebecca Foulger edited their review of gene: ROR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Leave inheritance as both monoallelic and biallelic.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	PSMB8	Rebecca Foulger edited their review of gene: PSMB8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PSMB8 gene rating from Green to Red.; Changed rating: RED
01 Apr 2019	Fetal anomalies v0.150	PRSS56	Rebecca Foulger edited their review of gene: PRSS56: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	PRSS12	Rebecca Foulger edited their review of gene: PRSS12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PRSS12 gene rating from Green to Red.; Changed rating: RED
01 Apr 2019	Fetal anomalies v0.150	PRRT2	Rebecca Foulger edited their review of gene: PRRT2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Phenotypes are not structural. Action taken: Demoted PRRT2 gene rating from Green to Red.; Changed rating: RED
01 Apr 2019	Fetal anomalies v0.150	PRPS1	Rebecca Foulger edited their review of gene: PRPS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Seems progressive. Action taken: Demoted PRPS1 gene rating from Green to Red.; Changed rating: RED
01 Apr 2019	Fetal anomalies v0.150	PROP1	Rebecca Foulger edited their review of gene: PROP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted PROP1 gene rating from Green to Red.; Changed rating: RED
01 Apr 2019	Fetal anomalies v0.150	PRKD1	Rebecca Foulger edited their review of gene: PRKD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	PRKAR1A	Rebecca Foulger edited their review of gene: PRKAR1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Would also explain Myxoma, intracardiac (MIM:255960).; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	POMT2	Rebecca Foulger edited their review of gene: POMT2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	POMT1	Rebecca Foulger edited their review of gene: POMT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	POMGNT2	Rebecca Foulger edited their review of gene: POMGNT2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	POMGNT1	Rebecca Foulger edited their review of gene: POMGNT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	POLR3A	Rebecca Foulger edited their review of gene: POLR3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	POLR1D	Rebecca Foulger edited their review of gene: POLR1D: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	POLR1C	Rebecca Foulger edited their review of gene: POLR1C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	POC1B	Rebecca Foulger edited their review of gene: POC1B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted POC1B gene rating from Green to Red.; Changed rating: RED
01 Apr 2019	Fetal anomalies v0.150	POC1A	Rebecca Foulger edited their review of gene: POC1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	PMS2	Rebecca Foulger edited their review of gene: PMS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Associated with Lynch syndrome, which confers an increased risk of cancers, particularly colorectal cancer. Action taken: Demoted PMS2 gene rating from Green to Red.; Changed rating: RED
01 Apr 2019	Fetal anomalies v0.150	PMM2	Rebecca Foulger edited their review of gene: PMM2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	PLOD2	Rebecca Foulger edited their review of gene: PLOD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	PLOD1	Rebecca Foulger edited their review of gene: PLOD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	PLK4	Rebecca Foulger edited their review of gene: PLK4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	PKHD1	Rebecca Foulger edited their review of gene: PKHD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	PKD1L1	Rebecca Foulger edited their review of gene: PKD1L1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	PITX3	Rebecca Foulger edited their review of gene: PITX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	PITX2	Rebecca Foulger edited their review of gene: PITX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	PIK3R1	Rebecca Foulger edited their review of gene: PIK3R1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	PIGV	Rebecca Foulger edited their review of gene: PIGV: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	PIGT	Rebecca Foulger edited their review of gene: PIGT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	PIGO	Rebecca Foulger edited their review of gene: PIGO: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	PIGL	Rebecca Foulger edited their review of gene: PIGL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	PIGA	Rebecca Foulger edited their review of gene: PIGA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	PIEZO2	Rebecca Foulger edited their review of gene: PIEZO2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	PHGDH	Rebecca Foulger edited their review of gene: PHGDH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	PHF8	Rebecca Foulger edited their review of gene: PHF8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	PHF6	Rebecca Foulger edited their review of gene: PHF6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	PGM1	Rebecca Foulger edited their review of gene: PGM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.150	PGAP3	Rebecca Foulger edited their review of gene: PGAP3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene. Additional notes from clinical review: Cleft in some patients.; Changed rating: GREEN
01 Apr 2019	Fetal anomalies v0.149	ROR2	Rebecca Foulger commented on gene: ROR2: In the original PAGE file, Mode of Inheritance is recorded as Biallelic for 'ROR2-RELATED DISORDERS AR', and Monoallelic for 'BRACHYDACTYLY, TYPE B1' and 'ROBINOW SYNDROME, AUTOSOMAL DOMINANT'. All three disorders have 'Confirmed' gene:disease associations with 'Loss of function' mode-of-pathogenicity.
24 Mar 2019	Fetal anomalies v0.149	KARS	Rebecca Foulger Source Expert Review Red was added to KARS. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
24 Mar 2019	Fetal anomalies v0.149	AR	Rebecca Foulger Source Expert Review Green was added to AR. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
24 Mar 2019	Fetal anomalies v0.148	TIMM8A	Rebecca Foulger edited their review of gene: TIMM8A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted TIMM8A gene rating from Amber to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.148	THAP1	Rebecca Foulger edited their review of gene: THAP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted THAP1 gene rating from Amber to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.148	SYNE1	Rebecca Foulger edited their review of gene: SYNE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted SYNE1 gene rating from Amber to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.148	SPTLC2	Rebecca Foulger edited their review of gene: SPTLC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted SPTLC2 gene rating from Amber to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.148	SMCHD1	Rebecca Foulger edited their review of gene: SMCHD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted SMCHD1 gene rating from Amber to Green.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.148	SMAD4	Rebecca Foulger edited their review of gene: SMAD4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted SMAD4 gene rating from Amber to Green.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.148	SLC4A11	Rebecca Foulger edited their review of gene: SLC4A11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted SLC4A11 gene rating from Amber to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.148	SLC4A1	Rebecca Foulger edited their review of gene: SLC4A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted SLC4A1 gene rating from Amber to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.148	POLD1	Rebecca Foulger edited their review of gene: POLD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Does not seem to have evidence for prenatal presentation, and risk of cancer predisposition as an incidental finding. Action taken: Demoted POLD1 gene rating from Amber to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.148	PDCD10	Rebecca Foulger edited their review of gene: PDCD10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted PDCD10 gene rating from Amber to Green.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.148	NR5A1	Rebecca Foulger edited their review of gene: NR5A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted NR5A1 gene rating from Amber to Green.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.148	MYO7A	Rebecca Foulger edited their review of gene: MYO7A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Nothing structural that would present in a fetus. Action taken: Demoted KIT gene rating from Amber to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.148	MYH8	Rebecca Foulger edited their review of gene: MYH8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted MYH8 gene rating from Amber to Green.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.148	LMNA	Rebecca Foulger edited their review of gene: LMNA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted LMNA gene rating from Amber to Green.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.148	KRIT1	Rebecca Foulger edited their review of gene: KRIT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. One case has been reported for a Biallelic variant in this gene prenatally, for a different phenotype (PMID: 28749478). Action taken: Promoted KRIT1 gene rating from Amber to Green.; Changed rating: GREEN; Changed publications: 28749478
24 Mar 2019	Fetal anomalies v0.148	KIT	Rebecca Foulger edited their review of gene: KIT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted KIT gene rating from Amber to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.148	KCNE1	Rebecca Foulger edited their review of gene: KCNE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted KCNE1 gene rating from Amber to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.148	KARS	Rebecca Foulger edited their review of gene: KARS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted KARS gene rating from Amber to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.148	FAM161A	Rebecca Foulger edited their review of gene: FAM161A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted FAM161A gene rating from Amber to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.148	COL4A2	Rebecca Foulger edited their review of gene: COL4A2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted COL4A2 gene rating from Amber to Green.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.148	COL4A1	Rebecca Foulger edited their review of gene: COL4A1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Promoted COL4A1 gene rating from Amber to Green.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.148	CLN6	Rebecca Foulger edited their review of gene: CLN6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted CLN6 gene rating from Amber to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.148	CISD2	Rebecca Foulger edited their review of gene: CISD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted CISD2 gene rating from Amber to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.148	CDH1	Rebecca Foulger edited their review of gene: CDH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Obvious structural phenotype. Action taken: Promoted CDH1 gene rating from Amber to Green.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.148	BRCA1	Rebecca Foulger edited their review of gene: BRCA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Limited evidence. Action taken: Demoted BRCA1 gene rating from Amber to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.148	ATP1A3	Rebecca Foulger edited their review of gene: ATP1A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted ATP1A3 gene rating from Amber to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.148	AR	Rebecca Foulger edited their review of gene: AR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. STRs are NOT to be reported. Action taken: Promoted AR gene rating from Amber to Green.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.148	ALDOB	Rebecca Foulger edited their review of gene: ALDOB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted ALDOB gene rating from Amber to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.148	AIRE	Rebecca Foulger edited their review of gene: AIRE: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Would not present fetally. Action taken: Demoted AIRE gene rating from Amber to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.148	AGXT	Rebecca Foulger edited their review of gene: AGXT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Action taken: Demoted AGXT gene rating from Amber to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.148	ACTA2	Rebecca Foulger edited their review of gene: ACTA2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Moyamoya disease could present on an MRI. Action taken: Promoted ACTA2 gene rating from Amber to Green.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.148	ACADS	Rebecca Foulger edited their review of gene: ACADS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is not fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Would not present fetally. Action taken: Demoted ACADS gene rating from Amber to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.148	AMER1	Rebecca Foulger edited their review of gene: AMER1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant. Additional notes from clinical review: Disease confidence in DD-G2P is 'both DD and IF'. Include because causes an important phenotype. Action taken: Promoted AMER1 gene rating from Amber to Green.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.145	GJB2	Rebecca Foulger Added comment: Comment on mode of inheritance: In original PAGE file, inheritance was listed as biallelic for 'DEAFNESS AUTOSOMAL RECESSIVE TYPE 1A' and monoallelic for 'PALMOPLANTAR KERATODERMA WITH DEAFNESS', 'ICHTHYOSIS HYSTRIX-LIKE WITH DEAFNESS SYNDROME', 'VOHWINKEL SYNDROME' and 'BART-PUMPHREY SYNDROME'. Changed MOI to 'monoallelic' only following clinical review because the deafness phenotype alone is not detectable pre-natally.
24 Mar 2019	Fetal anomalies v0.144	GJA1	Rebecca Foulger Added comment: Comment on mode of inheritance: In original PAGE file, mode of inheritance listed as biallelic for 'HALLERMANN-STREIFF SYNDROME' and 'AUTOSOMAL RECESSIVE OCULODENTODIGITAL DYSPLASIA', and listed as monoallelic for 'HYPOPLASTIC LEFT HEART SYNDROME' and 'AUTOSOMAL DOMINANT OCULODENTODIGITAL DYSPLASIA'. Clinical review confirmed that GJA1 should be on the panel with both monoallelic and biallelic inheritance.
24 Mar 2019	Fetal anomalies v0.143	CRYAA	Rebecca Foulger Added comment: Comment on mode of inheritance: In original PAGE file, the Mode of inheritance was listed as Biallelic for 'CATARACT, AUTOSOMAL RECESSIVE CONGENITAL 1' and Monoallelic for 'CATARACT, NUCLEAR'. Clinical review confirmed that CRYAA should be on the panel with both biallelic and monoallelic modes of inheritance.
24 Mar 2019	Fetal anomalies v0.142	CASK	Rebecca Foulger commented on gene: CASK: In the original PAGE file, MOI listed as X-linked dominant for 'MENTAL RETARDATION X-LINKED CASK-RELATED, and Hemizygous for 'FG SYNDROME TYPE 4' and 'MRX WITH/WITHOUT NYSTAGMUS'.
24 Mar 2019	Fetal anomalies v0.142	ALDH18A1	Rebecca Foulger Added comment: Comment on mode of inheritance: Mode of inheritance in original PAGE file was Monoallelic for 'CUTIS LAXA, AUTOSOMAL DOMINANT 3' and 'SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT', and Biallelic for 'MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES'. Clinical review confirmed that ALDH18A1 should be on the panel with both monoallelic and biallelic inheritance.
24 Mar 2019	Fetal anomalies v0.135	ARG1	Rebecca Foulger Source Expert Review Red was added to ARG1. Rating Changed from Green List (high evidence) to Red List (low evidence)
24 Mar 2019	Fetal anomalies v0.134	NYX	Rebecca Foulger edited their review of gene: NYX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NYX gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	MYCN	Rebecca Foulger edited their review of gene: MYCN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NUP107	Rebecca Foulger edited their review of gene: NUP107: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NUBPL	Rebecca Foulger edited their review of gene: NUBPL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NTRK1	Rebecca Foulger edited their review of gene: NTRK1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NTRK1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	NT5C3A	Rebecca Foulger edited their review of gene: NT5C3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NT5C3A gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	NSDHL	Rebecca Foulger edited their review of gene: NSDHL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NSD1	Rebecca Foulger edited their review of gene: NSD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NRAS	Rebecca Foulger edited their review of gene: NRAS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NR2F2	Rebecca Foulger edited their review of gene: NR2F2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NR2F1	Rebecca Foulger edited their review of gene: NR2F1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NR2F1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	NPR2	Rebecca Foulger edited their review of gene: NPR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NPHS2	Rebecca Foulger edited their review of gene: NPHS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NPHS2 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	NPHS1	Rebecca Foulger edited their review of gene: NPHS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NPHP4	Rebecca Foulger edited their review of gene: NPHP4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NPHP4 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	NPHP3	Rebecca Foulger edited their review of gene: NPHP3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NPHP1	Rebecca Foulger edited their review of gene: NPHP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NPC2	Rebecca Foulger edited their review of gene: NPC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NPC1	Rebecca Foulger edited their review of gene: NPC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NOTCH2	Rebecca Foulger edited their review of gene: NOTCH2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NOG	Rebecca Foulger edited their review of gene: NOG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NODAL	Rebecca Foulger edited their review of gene: NODAL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NMNAT1	Rebecca Foulger edited their review of gene: NMNAT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NMNAT1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	NKX3-2	Rebecca Foulger edited their review of gene: NKX3-2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NKX2-5	Rebecca Foulger edited their review of gene: NKX2-5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NKX2-1	Rebecca Foulger edited their review of gene: NKX2-1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Don't include: septal defect in some patients. Action taken: Demoted NKX2-1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	NHS	Rebecca Foulger edited their review of gene: NHS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NGLY1	Rebecca Foulger edited their review of gene: NGLY1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NGLY1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	NFIX	Rebecca Foulger edited their review of gene: NFIX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NF1	Rebecca Foulger edited their review of gene: NF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NEU1	Rebecca Foulger edited their review of gene: NEU1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NEK1	Rebecca Foulger edited their review of gene: NEK1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NECTIN4	Rebecca Foulger edited their review of gene: NECTIN4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NDP	Rebecca Foulger edited their review of gene: NDP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NDP gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	NDE1	Rebecca Foulger edited their review of gene: NDE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NBN	Rebecca Foulger edited their review of gene: NBN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NBAS	Rebecca Foulger edited their review of gene: NBAS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NANS	Rebecca Foulger edited their review of gene: NANS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NALCN	Rebecca Foulger edited their review of gene: NALCN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NAGS	Rebecca Foulger edited their review of gene: NAGS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted NAGS gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	NAGA	Rebecca Foulger edited their review of gene: NAGA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NACC1	Rebecca Foulger edited their review of gene: NACC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	NAA10	Rebecca Foulger edited their review of gene: NAA10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MYT1L	Rebecca Foulger edited their review of gene: MYT1L: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MYT1L gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	MYO5B	Rebecca Foulger edited their review of gene: MYO5B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MYO5B gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	MYO5A	Rebecca Foulger edited their review of gene: MYO5A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MYO5A gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	MYH9	Rebecca Foulger edited their review of gene: MYH9: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Could potentially have a bleed in utero.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MUT	Rebecca Foulger edited their review of gene: MUT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MUT gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	MTRR	Rebecca Foulger edited their review of gene: MTRR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MTRR gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	MTR	Rebecca Foulger edited their review of gene: MTR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MTR gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	MTOR	Rebecca Foulger edited their review of gene: MTOR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MTO1	Rebecca Foulger edited their review of gene: MTO1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MTM1	Rebecca Foulger edited their review of gene: MTM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MTHFR	Rebecca Foulger edited their review of gene: MTHFR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MTHFR gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	MSX2	Rebecca Foulger edited their review of gene: MSX2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MSX1	Rebecca Foulger edited their review of gene: MSX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MSL3	Rebecca Foulger edited their review of gene: MSL3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: MSL3 is not yet associated with a disorder in OMIM, but a recent publication (PMID:30224647) reports a variety of structural features.; Changed rating: GREEN; Changed publications: 30224647
24 Mar 2019	Fetal anomalies v0.134	MRE11	Rebecca Foulger edited their review of gene: MRE11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MRE11 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	MPLKIP	Rebecca Foulger edited their review of gene: MPLKIP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Rare structural associations.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MPI	Rebecca Foulger edited their review of gene: MPI: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MPI gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	MPDU1	Rebecca Foulger edited their review of gene: MPDU1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MOCS2	Rebecca Foulger edited their review of gene: MOCS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MOCS1	Rebecca Foulger edited their review of gene: MOCS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MNX1	Rebecca Foulger edited their review of gene: MNX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MMP21	Rebecca Foulger edited their review of gene: MMP21: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MMP13	Rebecca Foulger edited their review of gene: MMP13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MMADHC	Rebecca Foulger edited their review of gene: MMADHC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MMADHC gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	MMACHC	Rebecca Foulger edited their review of gene: MMACHC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MMACHC gene rating from Green to Red. Additional notes from clinical review: Hydrocephalus is probably secondary phenotype.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	MMAB	Rebecca Foulger edited their review of gene: MMAB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MMAB gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	MMAA	Rebecca Foulger edited their review of gene: MMAA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MMAA gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	MLYCD	Rebecca Foulger edited their review of gene: MLYCD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MLC1	Rebecca Foulger edited their review of gene: MLC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MKS1	Rebecca Foulger edited their review of gene: MKS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MKKS	Rebecca Foulger edited their review of gene: MKKS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MID1	Rebecca Foulger edited their review of gene: MID1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MICU1	Rebecca Foulger edited their review of gene: MICU1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MICU1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	MGP	Rebecca Foulger edited their review of gene: MGP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MGAT2	Rebecca Foulger edited their review of gene: MGAT2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Post-natal onset. Action taken: Demoted MGAT2 gene rating from Green to Red. ; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	MFSD8	Rebecca Foulger edited their review of gene: MFSD8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Disease is progressive with late infantile onset (from age 1.5 years). Action taken: Demoted MFSD8 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	MFSD2A	Rebecca Foulger edited their review of gene: MFSD2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MFRP	Rebecca Foulger edited their review of gene: MFRP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MESP2	Rebecca Foulger edited their review of gene: MESP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Abnormal vertebrae.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MEGF8	Rebecca Foulger edited their review of gene: MEGF8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MEGF10	Rebecca Foulger edited their review of gene: MEGF10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MEF2C	Rebecca Foulger edited their review of gene: MEF2C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Structural brain phenotypes.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MED12	Rebecca Foulger edited their review of gene: MED12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MECP2	Rebecca Foulger edited their review of gene: MECP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MECP2 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	MCPH1	Rebecca Foulger edited their review of gene: MCPH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Primary microcephaly.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MCOLN1	Rebecca Foulger edited their review of gene: MCOLN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Dysplastic corpus callosum.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MCEE	Rebecca Foulger edited their review of gene: MCEE: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MCEE gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	MCCC2	Rebecca Foulger edited their review of gene: MCCC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MCCC2 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	MCCC1	Rebecca Foulger edited their review of gene: MCCC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MCCC1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	MC2R	Rebecca Foulger edited their review of gene: MC2R: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted MC2R gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	MATN3	Rebecca Foulger edited their review of gene: MATN3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MASP1	Rebecca Foulger edited their review of gene: MASP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MAPRE2	Rebecca Foulger edited their review of gene: MAPRE2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MAP3K1	Rebecca Foulger edited their review of gene: MAP3K1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MAP2K2	Rebecca Foulger edited their review of gene: MAP2K2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MAP2K1	Rebecca Foulger edited their review of gene: MAP2K1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MAF	Rebecca Foulger edited their review of gene: MAF: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	MAB21L2	Rebecca Foulger edited their review of gene: MAB21L2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	LYST	Rebecca Foulger edited their review of gene: LYST: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Potentially hydrops.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	LTBP3	Rebecca Foulger edited their review of gene: LTBP3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	LTBP2	Rebecca Foulger edited their review of gene: LTBP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted LTBP2 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	LRRC6	Rebecca Foulger edited their review of gene: LRRC6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	LRP5	Rebecca Foulger edited their review of gene: LRP5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include on panel with biallelic mode of inheritance only. Action taken: Changed mode of inheritance from 'both monoallelic and biallelic' to 'biallelic' only.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Mar 2019	Fetal anomalies v0.134	LRP2	Rebecca Foulger edited their review of gene: LRP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	LMX1B	Rebecca Foulger edited their review of gene: LMX1B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	LMBRD1	Rebecca Foulger edited their review of gene: LMBRD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted LMBRD1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	LIG4	Rebecca Foulger edited their review of gene: LIG4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Microcephaly.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	LHX4	Rebecca Foulger edited their review of gene: LHX4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Abnormalities of the sella turcica; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	LHX3	Rebecca Foulger edited their review of gene: LHX3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Small pituitary.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	LFNG	Rebecca Foulger edited their review of gene: LFNG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	LEMD3	Rebecca Foulger edited their review of gene: LEMD3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted LEMD3 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	LBR	Rebecca Foulger edited their review of gene: LBR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	LARP7	Rebecca Foulger edited their review of gene: LARP7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	LARGE1	Rebecca Foulger edited their review of gene: LARGE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	LAMC3	Rebecca Foulger edited their review of gene: LAMC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	LAMA2	Rebecca Foulger edited their review of gene: LAMA2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	LAMA1	Rebecca Foulger edited their review of gene: LAMA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	L2HGDH	Rebecca Foulger edited their review of gene: L2HGDH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	KRAS	Rebecca Foulger edited their review of gene: KRAS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	KMT5B	Rebecca Foulger edited their review of gene: KMT5B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Single report of talipes. Action taken: Demoted KMT5B gene rating from Green to Red. ; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	KMT2A	Rebecca Foulger edited their review of gene: KMT2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	KLHL40	Rebecca Foulger edited their review of gene: KLHL40: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	KLF1	Rebecca Foulger edited their review of gene: KLF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Hydrops.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	KIF7	Rebecca Foulger edited their review of gene: KIF7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	KIF22	Rebecca Foulger edited their review of gene: KIF22: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	KIF1BP	Rebecca Foulger edited their review of gene: KIF1BP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	KIF1A	Rebecca Foulger edited their review of gene: KIF1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	KIF11	Rebecca Foulger edited their review of gene: KIF11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	KIAA0586	Rebecca Foulger edited their review of gene: KIAA0586: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	KDM6A	Rebecca Foulger edited their review of gene: KDM6A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	KDM5C	Rebecca Foulger edited their review of gene: KDM5C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	KCNQ2	Rebecca Foulger edited their review of gene: KCNQ2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted KCNQ2 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	KCNC1	Rebecca Foulger edited their review of gene: KCNC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted KCNC1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	KCNB1	Rebecca Foulger edited their review of gene: KCNB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted KCNB1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	KCNA2	Rebecca Foulger edited their review of gene: KCNA2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted KCNA2 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	KAT6B	Rebecca Foulger edited their review of gene: KAT6B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	KAT6A	Rebecca Foulger edited their review of gene: KAT6A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	KANSL1	Rebecca Foulger edited their review of gene: KANSL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	JAK3	Rebecca Foulger edited their review of gene: JAK3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted JAK3 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	JAGN1	Rebecca Foulger edited their review of gene: JAGN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted JAGN1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	JAG1	Rebecca Foulger edited their review of gene: JAG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	IVD	Rebecca Foulger edited their review of gene: IVD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted IVD gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	ITGA7	Rebecca Foulger edited their review of gene: ITGA7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ITGA7 gene rating from Green to Red.; Changed rating: RED; Changed publications: 9590299
24 Mar 2019	Fetal anomalies v0.134	ITGA3	Rebecca Foulger edited their review of gene: ITGA3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	ISPD	Rebecca Foulger edited their review of gene: ISPD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	IRF6	Rebecca Foulger edited their review of gene: IRF6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	INPPL1	Rebecca Foulger edited their review of gene: INPPL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	INPP5E	Rebecca Foulger edited their review of gene: INPP5E: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	IMPAD1	Rebecca Foulger edited their review of gene: IMPAD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	IL1RAPL1	Rebecca Foulger edited their review of gene: IL1RAPL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	IKBKG	Rebecca Foulger edited their review of gene: IKBKG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include on the panel with both XLD and XLR modes of inheritance; although there is less evidence for structural features with XLR, there are some reports.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
24 Mar 2019	Fetal anomalies v0.134	IHH	Rebecca Foulger edited their review of gene: IHH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	IGSF1	Rebecca Foulger edited their review of gene: IGSF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted IGSF1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	IGF2	Rebecca Foulger edited their review of gene: IGF2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	IFT80	Rebecca Foulger edited their review of gene: IFT80: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	IFT43	Rebecca Foulger edited their review of gene: IFT43: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	IFT172	Rebecca Foulger edited their review of gene: IFT172: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	IFT140	Rebecca Foulger edited their review of gene: IFT140: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	IFT122	Rebecca Foulger edited their review of gene: IFT122: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	IFITM5	Rebecca Foulger edited their review of gene: IFITM5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	IDS	Rebecca Foulger edited their review of gene: IDS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	HYLS1	Rebecca Foulger edited their review of gene: HYLS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	HYAL1	Rebecca Foulger edited their review of gene: HYAL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HYAL1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	HUWE1	Rebecca Foulger edited their review of gene: HUWE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	HSPG2	Rebecca Foulger edited their review of gene: HSPG2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	HSF4	Rebecca Foulger edited their review of gene: HSF4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	HSD3B7	Rebecca Foulger edited their review of gene: HSD3B7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HSD3B7 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	HSD17B4	Rebecca Foulger edited their review of gene: HSD17B4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	HSD17B10	Rebecca Foulger edited their review of gene: HSD17B10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HSD17B10 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	HR	Rebecca Foulger edited their review of gene: HR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	HPSE2	Rebecca Foulger edited their review of gene: HPSE2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	HPS1	Rebecca Foulger edited their review of gene: HPS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HPS1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	HPRT1	Rebecca Foulger edited their review of gene: HPRT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HPRT1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	HPGD	Rebecca Foulger edited their review of gene: HPGD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HPGD gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	HOXD13	Rebecca Foulger edited their review of gene: HOXD13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	HOXC13	Rebecca Foulger edited their review of gene: HOXC13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HOXC13 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	HOXA13	Rebecca Foulger edited their review of gene: HOXA13: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	HOXA1	Rebecca Foulger edited their review of gene: HOXA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	HNRNPU	Rebecca Foulger edited their review of gene: HNRNPU: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HNRNPU gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	HNF4A	Rebecca Foulger edited their review of gene: HNF4A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	HNF1B	Rebecca Foulger edited their review of gene: HNF1B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	HMGCS2	Rebecca Foulger edited their review of gene: HMGCS2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HMGCS2 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	HMGCL	Rebecca Foulger edited their review of gene: HMGCL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HMGCL gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	HLCS	Rebecca Foulger edited their review of gene: HLCS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HLCS gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	HIVEP2	Rebecca Foulger edited their review of gene: HIVEP2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	HINT1	Rebecca Foulger edited their review of gene: HINT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HINT1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	HIBCH	Rebecca Foulger edited their review of gene: HIBCH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	HGSNAT	Rebecca Foulger edited their review of gene: HGSNAT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HGSNAT gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	HEXB	Rebecca Foulger edited their review of gene: HEXB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HEXB gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	HEXA	Rebecca Foulger edited their review of gene: HEXA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HEXA gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	HECW2	Rebecca Foulger edited their review of gene: HECW2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HECW2 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	HDAC8	Rebecca Foulger edited their review of gene: HDAC8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	HDAC4	Rebecca Foulger edited their review of gene: HDAC4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HDAC4 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	HCN1	Rebecca Foulger edited their review of gene: HCN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HCN1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	HCFC1	Rebecca Foulger edited their review of gene: HCFC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HCFC1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	HAX1	Rebecca Foulger edited their review of gene: HAX1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HAX1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	HADHA	Rebecca Foulger edited their review of gene: HADHA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	HADH	Rebecca Foulger edited their review of gene: HADH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HADH gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	HACE1	Rebecca Foulger edited their review of gene: HACE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted HACE1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	GUSB	Rebecca Foulger edited their review of gene: GUSB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GUCY2C	Rebecca Foulger edited their review of gene: GUCY2C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GTPBP3	Rebecca Foulger edited their review of gene: GTPBP3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GTF2H5	Rebecca Foulger edited their review of gene: GTF2H5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GRM6	Rebecca Foulger edited their review of gene: GRM6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GRM6 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	GRIN2B	Rebecca Foulger edited their review of gene: GRIN2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GRIN2A	Rebecca Foulger edited their review of gene: GRIN2A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GRIN2A gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	GRIN1	Rebecca Foulger edited their review of gene: GRIN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GRIK2	Rebecca Foulger edited their review of gene: GRIK2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GRIK2 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	GRIA3	Rebecca Foulger edited their review of gene: GRIA3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GRIA3 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	GRHL3	Rebecca Foulger edited their review of gene: GRHL3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GPSM2	Rebecca Foulger edited their review of gene: GPSM2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GPC3	Rebecca Foulger edited their review of gene: GPC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GORAB	Rebecca Foulger edited their review of gene: GORAB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GNS	Rebecca Foulger edited their review of gene: GNS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GNPTG	Rebecca Foulger edited their review of gene: GNPTG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GNPTAB	Rebecca Foulger edited their review of gene: GNPTAB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GNPAT	Rebecca Foulger edited their review of gene: GNPAT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GNB1	Rebecca Foulger edited their review of gene: GNB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GNAS	Rebecca Foulger edited their review of gene: GNAS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GNAO1	Rebecca Foulger edited their review of gene: GNAO1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: May detect thin corpus callosum pre-natally.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GNAI3	Rebecca Foulger edited their review of gene: GNAI3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GMPPB	Rebecca Foulger edited their review of gene: GMPPB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GMPPA	Rebecca Foulger edited their review of gene: GMPPA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GMPPA gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	GLUL	Rebecca Foulger edited their review of gene: GLUL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GLUD1	Rebecca Foulger edited their review of gene: GLUD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted GLUD1 gene rating from Green to Red. ; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	GLIS3	Rebecca Foulger edited their review of gene: GLIS3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GLI3	Rebecca Foulger edited their review of gene: GLI3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GLI2	Rebecca Foulger edited their review of gene: GLI2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GLE1	Rebecca Foulger edited their review of gene: GLE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GLDC	Rebecca Foulger edited their review of gene: GLDC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Absent corpus callosumis a variable phenotype.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GJC2	Rebecca Foulger edited their review of gene: GJC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Onset of Lymphatic malformation 3 can be at birth (monoallelic mode of inheritance). Action taken: Kept mode of inheritance as 'both monoallelic and biallelic' on advice from Lyn Chitty.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
24 Mar 2019	Fetal anomalies v0.134	GJB2	Rebecca Foulger edited their review of gene: GJB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include on panel on basis of possible congenital digit constrictions and no harm done. Change MOI to monoallelic only: Recessive inheritance is attributed to the deafness phenotype, which would not be detected prenatally. Action taken: Changed mode of inheritance from 'both biallelic and monoallelic' to 'monoallelic' only.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
24 Mar 2019	Fetal anomalies v0.134	GJA8	Rebecca Foulger edited their review of gene: GJA8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GJA3	Rebecca Foulger edited their review of gene: GJA3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital cataracts.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GJA1	Rebecca Foulger edited their review of gene: GJA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with monoallelic (Atrioventricular septal defects) and biallelic (Hypoplastic left heart syndrome 1) inheritance.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
24 Mar 2019	Fetal anomalies v0.134	GHR	Rebecca Foulger edited their review of gene: GHR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Baby is normal size at birth and fails to grow afterwards, so not detectable prenatally. Action taken: Demoted GHR gene rating from Green to Red. ; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	GFM1	Rebecca Foulger edited their review of gene: GFM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Enough structural features.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GFAP	Rebecca Foulger edited their review of gene: GFAP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GDI1	Rebecca Foulger edited their review of gene: GDI1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No associated structural phenotypes. Action taken: Demoted GDI1 gene rating from Green to Red. ; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	GDF6	Rebecca Foulger edited their review of gene: GDF6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GDF5	Rebecca Foulger edited their review of gene: GDF5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GCH1	Rebecca Foulger edited their review of gene: GCH1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GCH1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	GCDH	Rebecca Foulger edited their review of gene: GCDH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GCDH gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	GATM	Rebecca Foulger edited their review of gene: GATM: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GATM gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	GATAD2B	Rebecca Foulger edited their review of gene: GATAD2B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GATAD2B gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	GATA6	Rebecca Foulger edited their review of gene: GATA6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GATA4	Rebecca Foulger edited their review of gene: GATA4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GAMT	Rebecca Foulger edited their review of gene: GAMT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Nothing detectable prenatally, though it would be informative as clinically actionable at birth. Action taken: Demoted GAMT gene rating from Green to Red. ; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	GALT	Rebecca Foulger edited their review of gene: GALT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Nothing detectable prenatally, though it would be informative as clinically actionable at birth. Action taken: Demoted GALT gene rating from Green to Red. ; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	GALNS	Rebecca Foulger edited their review of gene: GALNS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	GALK1	Rebecca Foulger edited their review of gene: GALK1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Just cataracts, preventable with early dietary management so not detectable prentally. Action taken: Demoted GALK1 gene rating from Green to Red. ; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	GALE	Rebecca Foulger edited their review of gene: GALE: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GALE gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	GALC	Rebecca Foulger edited their review of gene: GALC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted GALC gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	GABRB3	Rebecca Foulger edited their review of gene: GABRB3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Early Infantile Epileptic encephalopathy (EIEE) but no structural phenotypes. Action taken: Demoted GABRB3 gene rating from Green to Red. ; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	FZD6	Rebecca Foulger edited their review of gene: FZD6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FZD6 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	FYCO1	Rebecca Foulger edited their review of gene: FYCO1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FTSJ1	Rebecca Foulger edited their review of gene: FTSJ1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No additional structural features. Action taken: Demoted FTSJ1 gene rating from Green to Red. ; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	FTL	Rebecca Foulger edited their review of gene: FTL: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FTL gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	FTCD	Rebecca Foulger edited their review of gene: FTCD: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FTCD gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	FRMD7	Rebecca Foulger edited their review of gene: FRMD7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FRMD7 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	FREM2	Rebecca Foulger edited their review of gene: FREM2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FREM1	Rebecca Foulger edited their review of gene: FREM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FRAS1	Rebecca Foulger edited their review of gene: FRAS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FOXRED1	Rebecca Foulger edited their review of gene: FOXRED1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FOXP1	Rebecca Foulger edited their review of gene: FOXP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FOXP1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	FOXN1	Rebecca Foulger edited their review of gene: FOXN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FOXN1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	FOXG1	Rebecca Foulger edited their review of gene: FOXG1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Postnatal phenotypes only. Action taken: Demoted FOXG1 gene rating from Green to Red. ; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	FOXF1	Rebecca Foulger edited their review of gene: FOXF1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FOXE3	Rebecca Foulger edited their review of gene: FOXE3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FOXE1	Rebecca Foulger edited their review of gene: FOXE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FOXC2	Rebecca Foulger edited their review of gene: FOXC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FOXC1	Rebecca Foulger edited their review of gene: FOXC1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FOLR1	Rebecca Foulger edited their review of gene: FOLR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FLVCR2	Rebecca Foulger edited their review of gene: FLVCR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FLVCR1	Rebecca Foulger edited their review of gene: FLVCR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FLVCR1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	FLNB	Rebecca Foulger edited their review of gene: FLNB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FLAD1	Rebecca Foulger edited their review of gene: FLAD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Not detectable prenatally. Action taken: Demoted FLAD1 gene rating from Green to Red. ; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	FKTN	Rebecca Foulger edited their review of gene: FKTN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FKTN gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	FKRP	Rebecca Foulger edited their review of gene: FKRP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FKBP14	Rebecca Foulger edited their review of gene: FKBP14: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FHL1	Rebecca Foulger edited their review of gene: FHL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Adult onset. Action taken: Demoted FHL1 gene rating from Green to Red. ; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	FH	Rebecca Foulger edited their review of gene: FH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FH gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	FGFR1	Rebecca Foulger edited their review of gene: FGFR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FGF3	Rebecca Foulger edited their review of gene: FGF3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FGF12	Rebecca Foulger edited their review of gene: FGF12: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Early brain imaging is normal. Action taken: Demoted FGF12 gene rating from Green to Red. ; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	FGF10	Rebecca Foulger edited their review of gene: FGF10: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FGD1	Rebecca Foulger edited their review of gene: FGD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FBXL4	Rebecca Foulger edited their review of gene: FBXL4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FBP1	Rebecca Foulger edited their review of gene: FBP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FBP1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	FBN2	Rebecca Foulger edited their review of gene: FBN2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FBN1	Rebecca Foulger edited their review of gene: FBN1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FAT4	Rebecca Foulger edited their review of gene: FAT4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FAR1	Rebecca Foulger edited their review of gene: FAR1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FANCI	Rebecca Foulger edited their review of gene: FANCI: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FANCG	Rebecca Foulger edited their review of gene: FANCG: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FANCF	Rebecca Foulger edited their review of gene: FANCF: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FANCE	Rebecca Foulger edited their review of gene: FANCE: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FANCD2	Rebecca Foulger edited their review of gene: FANCD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FANCC	Rebecca Foulger edited their review of gene: FANCC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FANCA	Rebecca Foulger edited their review of gene: FANCA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FAM58A	Rebecca Foulger edited their review of gene: FAM58A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FAM20C	Rebecca Foulger edited their review of gene: FAM20C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FAM20A	Rebecca Foulger edited their review of gene: FAM20A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FAM126A	Rebecca Foulger edited their review of gene: FAM126A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FAM111A	Rebecca Foulger edited their review of gene: FAM111A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	FAH	Rebecca Foulger edited their review of gene: FAH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	EZH2	Rebecca Foulger edited their review of gene: EZH2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	EYA1	Rebecca Foulger edited their review of gene: EYA1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	EXT2	Rebecca Foulger edited their review of gene: EXT2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	EXT1	Rebecca Foulger edited their review of gene: EXT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	EXOSC3	Rebecca Foulger edited their review of gene: EXOSC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	EVC	Rebecca Foulger edited their review of gene: EVC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	ETHE1	Rebecca Foulger edited their review of gene: ETHE1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ETHE1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	ETFDH	Rebecca Foulger edited their review of gene: ETFDH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	ETFB	Rebecca Foulger edited their review of gene: ETFB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	ETFA	Rebecca Foulger edited their review of gene: ETFA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	ESCO2	Rebecca Foulger edited their review of gene: ESCO2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	ERF	Rebecca Foulger edited their review of gene: ERF: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	ERCC8	Rebecca Foulger edited their review of gene: ERCC8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	ERCC6L2	Rebecca Foulger edited their review of gene: ERCC6L2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted ERCC6L2 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	ERCC6	Rebecca Foulger edited their review of gene: ERCC6: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	ERCC3	Rebecca Foulger edited their review of gene: ERCC3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	ERCC2	Rebecca Foulger edited their review of gene: ERCC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	EPG5	Rebecca Foulger edited their review of gene: EPG5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	EP300	Rebecca Foulger edited their review of gene: EP300: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	EOGT	Rebecca Foulger edited their review of gene: EOGT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	ENPP1	Rebecca Foulger edited their review of gene: ENPP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Not detectable in utero. Action taken: Demoted ENPP1 gene rating from Green to Red. ; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	ELOVL4	Rebecca Foulger edited their review of gene: ELOVL4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	ELN	Rebecca Foulger edited their review of gene: ELN: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	ELAC2	Rebecca Foulger edited their review of gene: ELAC2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Include with biallelic inheritance to avoid picking up susceptibility to prostate cancer as an incidental finding.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
24 Mar 2019	Fetal anomalies v0.134	EIF4A3	Rebecca Foulger edited their review of gene: EIF4A3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	EIF2AK3	Rebecca Foulger edited their review of gene: EIF2AK3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	EHMT1	Rebecca Foulger edited their review of gene: EHMT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	EGR2	Rebecca Foulger edited their review of gene: EGR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted EGR2 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	EFTUD2	Rebecca Foulger edited their review of gene: EFTUD2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	EFNB1	Rebecca Foulger edited their review of gene: EFNB1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	EDNRB	Rebecca Foulger edited their review of gene: EDNRB: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	EDNRA	Rebecca Foulger edited their review of gene: EDNRA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	EDA	Rebecca Foulger edited their review of gene: EDA: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	ECEL1	Rebecca Foulger edited their review of gene: ECEL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	EBP	Rebecca Foulger edited their review of gene: EBP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	EBF3	Rebecca Foulger edited their review of gene: EBF3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	DYRK1A	Rebecca Foulger edited their review of gene: DYRK1A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	DYNC1H1	Rebecca Foulger edited their review of gene: DYNC1H1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	DYM	Rebecca Foulger edited their review of gene: DYM: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	DVL3	Rebecca Foulger edited their review of gene: DVL3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	DVL1	Rebecca Foulger edited their review of gene: DVL1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	DSTYK	Rebecca Foulger edited their review of gene: DSTYK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	DSPP	Rebecca Foulger edited their review of gene: DSPP: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DSPP gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	DPM1	Rebecca Foulger edited their review of gene: DPM1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	DPAGT1	Rebecca Foulger edited their review of gene: DPAGT1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DPAGT1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	DOLK	Rebecca Foulger edited their review of gene: DOLK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	DOCK8	Rebecca Foulger edited their review of gene: DOCK8: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DOCK8 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	DNMT3B	Rebecca Foulger edited their review of gene: DNMT3B: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DNMT3B gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	DNMT3A	Rebecca Foulger edited their review of gene: DNMT3A: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DNMT3A gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	DNAAF4	Rebecca Foulger edited their review of gene: DNAAF4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	DNAAF3	Rebecca Foulger edited their review of gene: DNAAF3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	DMPK	Rebecca Foulger edited their review of gene: DMPK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Note of caution that repeat expansion is clinically-relevant and not detectable on exome. Only relevant prenatally if it is a large expansion. A small expansion has adult onset and would be an incidental finding.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	DMP1	Rebecca Foulger edited their review of gene: DMP1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DMP1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	DLL4	Rebecca Foulger edited their review of gene: DLL4: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	DLL3	Rebecca Foulger edited their review of gene: DLL3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	DLG3	Rebecca Foulger edited their review of gene: DLG3: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: No structural phenotypes. Action taken: Demoted DLG3 gene rating from Green to Red. ; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	DIS3L2	Rebecca Foulger edited their review of gene: DIS3L2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	DHODH	Rebecca Foulger edited their review of gene: DHODH: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	DHFR	Rebecca Foulger edited their review of gene: DHFR: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Clinically actionable: can manage postnatally.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	DHCR7	Rebecca Foulger edited their review of gene: DHCR7: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Lots of phenotypes that would present prenatally including ambiguous genitalia.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	DHCR24	Rebecca Foulger edited their review of gene: DHCR24: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	DEPDC5	Rebecca Foulger edited their review of gene: DEPDC5: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Additional notes from clinical review: Epilepsy but no structural brain defects, so probably not detectable prenatally. Action taken: Demoted DEPDC5 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	DDX11	Rebecca Foulger edited their review of gene: DDX11: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Congenital heart defects reported.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	DDR2	Rebecca Foulger edited their review of gene: DDR2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	DDOST	Rebecca Foulger edited their review of gene: DDOST: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DDOST gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	DDHD1	Rebecca Foulger edited their review of gene: DDHD1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DDHD1 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	DDC	Rebecca Foulger edited their review of gene: DDC: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DDC gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	DDB2	Rebecca Foulger edited their review of gene: DDB2: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DDB2 gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	DCX	Rebecca Foulger edited their review of gene: DCX: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	DCHS1	Rebecca Foulger edited their review of gene: DCHS1: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as a Green gene.; Changed rating: GREEN
24 Mar 2019	Fetal anomalies v0.134	DBT	Rebecca Foulger edited their review of gene: DBT: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted DBT gene rating from Green to Red.; Changed rating: RED
24 Mar 2019	Fetal anomalies v0.134	DARS	Rebecca Foulger edited their review of gene: DARS: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Confirmed that phenotype is fetally-relevant: keep on the Fetal anomalies panel as Green. Additional notes from clinical review: Although it is unclear if the phenotype will present pre-natally, include on the panel due to thinning of the corpus callosumand it won't do any harm to include on the panel.; Changed rating: GREEN

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