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10 Oct 2023	Fetal anomalies v3.111	CLCN4	Sarah Leigh changed review comment from: 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.; to: The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.
10 Oct 2023	Fetal anomalies v3.111	KDM5C	Sarah Leigh reviewed gene: KDM5C: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
10 Oct 2023	Fetal anomalies v3.111	CLCN4	Sarah Leigh reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
10 Oct 2023	Fetal anomalies v3.110	KDM5C	Sarah Leigh Source NHS GMS was added to KDM5C. Mode of inheritance for gene KDM5C was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to 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	CLCN4	Stephanie Allen reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Raynaud-Claes syndrome, OMIM:300114; 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	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 v3.7	CLCN4	Arina Puzriakova gene: CLCN4 was added gene: CLCN4 was added to Fetal anomalies. Sources: Expert Review Amber Mode of inheritance for gene: CLCN4 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: CLCN4 were set to Raynaud-Claes syndrome, OMIM:300114
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.
30 Jan 2023	Fetal anomalies v2.10	MTM1	Arina Puzriakova commented on gene: MTM1: The mode of inheritance of this gene has been updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.
30 Jan 2023	Fetal anomalies v2.10	AP1S2	Arina Puzriakova commented on gene: AP1S2: The mode of inheritance of this gene has been updated to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.
30 Jan 2023	Fetal anomalies v2.9	MTM1	Arina Puzriakova Source NHS GMS was added to MTM1. Mode of inheritance for gene MTM1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
30 Jan 2023	Fetal anomalies v2.9	GRIN1	Arina Puzriakova Source NHS GMS was added to GRIN1. Mode of inheritance for gene GRIN1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
30 Jan 2023	Fetal anomalies v2.9	AP1S2	Arina Puzriakova Source NHS GMS was added to AP1S2. Mode of inheritance for gene AP1S2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
14 Nov 2022	Fetal anomalies v1.988	KDM5C	Arina Puzriakova Mode of inheritance for gene: KDM5C was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
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	NONO	Rhiannon Mellis reviewed gene: NONO: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31680349; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
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	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
05 Jul 2022	Fetal anomalies v1.873	MTM1	Arina Puzriakova Mode of inheritance for gene: MTM1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
08 Mar 2022	Fetal anomalies v1.837	PHF6	Arina Puzriakova Mode of inheritance for gene PHF6 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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
29 Nov 2021	Fetal anomalies v1.819	PHF6	Ivone Leong reviewed gene: PHF6: Rating: ; Mode of pathogenicity: None; Publications: 24092917, 25099957; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
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
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	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
27 Oct 2021	Fetal anomalies v1.748	CYP19A1	Arina Puzriakova Mode of inheritance for gene: CYP19A1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
27 Oct 2021	Fetal anomalies v1.747	CYP19A1	Arina Puzriakova Mode of inheritance for gene: CYP19A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
19 Oct 2021	Fetal anomalies v1.733	EHBP1L1	Sarah Leigh gene: EHBP1L1 was added gene: EHBP1L1 was added to Fetal anomalies. Sources: Expert Review Amber,Literature Mode of inheritance for gene: EHBP1L1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EHBP1L1 were set to 34645488; 26833786; https://dmdd.org.uk/mutants/Ehbp1l1 Phenotypes for gene: EHBP1L1 were set to non-immune hydrops fetalis MONDO:0009369 Penetrance for gene: EHBP1L1 were set to unknown
18 Oct 2021	Fetal anomalies v1.729	AP1S2	Arina Puzriakova Mode of inheritance for gene: AP1S2 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
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
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
28 Sep 2021	Fetal anomalies v1.718	MED12	Eleanor Williams Mode of inheritance for gene: MED12 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
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 changed review comment from: Comment on mode of inheritance: The Q3_21_MOI tag has been added to this gene as the MOI should be changed to - BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal.; to: Comment on mode of inheritance: The Q3_21_MOI tag has been added to this gene as the MOI should be changed to - BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal.
14 Sep 2021	Fetal anomalies v1.715	GRIN1	Sarah Leigh Added comment: Comment on mode of inheritance: The Q3_21_MOI tag has been added to this gene as the MOI should be changed to - BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal.
03 Mar 2021	Fetal anomalies v1.634	KIDINS220	Eleanor Williams Mode of inheritance for gene: KIDINS220 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
03 Mar 2021	Fetal anomalies v1.632	KIDINS220	Eleanor Williams Mode of inheritance for gene: KIDINS220 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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.
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
04 Feb 2021	Fetal anomalies v1.614	ISCA-46302-Gain	Catherine Snow Region: ISCA-46302-Gain was added Region: ISCA-46302-Gain was added to Fetal anomalies. Sources: ClinGen for-review tags were added to Region: ISCA-46302-Gain. Mode of inheritance for Region: ISCA-46302-Gain was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for Region: ISCA-46302-Gain were set to 22518125; 17504899; 20685758 Phenotypes for Region: ISCA-46302-Gain were set to gonadal dysgenesis Review for Region: ISCA-46302-Gain was set to AMBER Added comment: Addition of region inline with ClinGen region. Reviewed by GEL clinical for application for panel the phenotype, may escape detection in fetal life. The fetal team have rated the gene NR0B1 green, the CNV should be added too. Sources: ClinGen
02 Feb 2021	Fetal anomalies v1.610	SUFU	Arina Puzriakova Mode of inheritance for gene: SUFU was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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 v1.215	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	EIF2S3	Rhiannon Mellis reviewed gene: EIF2S3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: MEHMO syndrome, 300148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
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	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 v1.201	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 v1.195	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 v1.187	SMS	Rhiannon Mellis reviewed gene: SMS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: SNYDER-ROBINSON SYNDROME; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
28 Jan 2021	Fetal anomalies v1.187	SUFU	Rhiannon Mellis reviewed gene: SUFU: Rating: GREEN; Mode of pathogenicity: None; Publications: 33024317, 21289193; Phenotypes: Joubert syndrome 32; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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	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)
21 Jan 2021	Fetal anomalies v1.169	NONO	Arina Puzriakova reviewed gene: NONO: Rating: AMBER; Mode of pathogenicity: None; Publications: 32397791; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Aug 2020	Fetal anomalies v1.91	SRY	Eleanor Williams Mode of inheritance for gene: SRY was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females
20 Aug 2020	Fetal anomalies v1.90	SRY	Eleanor Williams Mode of inheritance for gene: SRY was changed from Other to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
20 Aug 2020	Fetal anomalies v1.89	SRY	Eleanor Williams Mode of inheritance for gene: SRY was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to Other
24 Jun 2020	Fetal anomalies v1.73	SHROOM4	Suzanne Drury gene: SHROOM4 was added gene: SHROOM4 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: SHROOM4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SHROOM4 were set to 32565546 Phenotypes for gene: SHROOM4 were set to HP:0001274 Review for gene: SHROOM4 was set to AMBER Added comment: Reported in fetal case series of abnormal corpus callosum PMID:32565546. Case also had Blake's pouch cyst, Turner syndrome: mos46,X, psu idic(X)(p11.2)[19/45,X[6] Sources: Literature
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.
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.
12 Dec 2019	Fetal anomalies v0.374	SHOX	Eleanor Williams Mode of inheritance for gene: SHOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
19 Nov 2019	Fetal anomalies v0.347	GLA	Rebecca Foulger gene: GLA was added gene: GLA was added to Fetal anomalies. Sources: Other Mode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: GLA were set to Fabry disease, 301500 Added comment: Added GLA to panel based on Green rating on Fetal hydrops panel V1.16, following email communication from Dominic McMullan (West Midlands, Oxford and Wessex GLH). Sources: Other
24 Oct 2019	Fetal anomalies v0.346	AMER1	Rebecca Foulger Mode of inheritance for gene: AMER1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
24 Oct 2019	Fetal anomalies v0.345	FAM58A	Rebecca Foulger Mode of inheritance for gene: FAM58A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
13 Aug 2019	Fetal anomalies v0.339	SLC35A2	Rebecca Foulger Mode of inheritance for gene: SLC35A2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
12 Aug 2019	Fetal anomalies v0.334	PKD1	Rebecca Foulger Mode of inheritance for gene: PKD1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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	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.
05 Jul 2019	Fetal anomalies v0.295	PDHA1	Anna de Burca reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26865159; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
27 Jun 2019	Fetal anomalies v0.287	PKD1	Eleanor Williams Mode of inheritance for gene: PKD1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
04 Jun 2019	Fetal anomalies v0.276	PKD1	Rebecca Foulger commented on gene: PKD1: PMID:20558538 (Vujic et al., 2010) was added as a publication by Julia Baptista. The authors describe two pedigrees each with two patients with onset of polycystic kidney disease in-utero. Mutation analysis suggested that both families inherited, in trans, two incompletely penetrant PKD1 alleles, thus supporting autosomal recessive PKD.
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 v0.245	MUT	Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
09 May 2019	Fetal anomalies v0.245	MUT	Louise Daugherty commented on gene: MUT
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 v0.222	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
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.
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.
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 v0.188	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.
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 v0.166	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	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
02 Apr 2019	Fetal anomalies v0.152	POLR3A	Rebecca Foulger Added comment: Comment on phenotypes: New gene:disorder association added to DDG2P on 27/03/2019 (after expert clinical review of POLR3A on Fetal anomalies panel): Autosomal Recessive Wiedemann Rautenstrauch Syndrome. DDG2P Disease confidence for Wiedemann Rautenstrauch Syndrome: confirmed. DDG2P mode of pathogenicity/mutation consequence for Wiedemann Rautenstrauch Syndrome: loss of function. DDG2P mode of inheritance for Wiedemann Rautenstrauch Syndrome: biallelic.
24 Mar 2019	Fetal anomalies v0.146	IKBKG	Rebecca Foulger Mode of inheritance for gene: IKBKG was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
24 Mar 2019	Fetal anomalies v0.135	MUT	Rebecca Foulger Source Expert Review Red was added to MUT. Rating Changed from Green List (high evidence) to Red List (low evidence)
24 Mar 2019	Fetal anomalies v0.135	IKBKG	Rebecca Foulger Mode of inheritance for gene IKBKG was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
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	CDKN1C	Rebecca Foulger edited their review of gene: CDKN1C: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon 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: Point mutations in CDKN1C can cause phenotypes, and be picked up by this panel. OMIM confirms that CDKN1C is paternally-imprinted with preferential expression of the maternal allele.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
24 Mar 2019	Fetal anomalies v0.134	CASK	Rebecca Foulger edited their review of gene: CASK: Added comment: This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon 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: Phenotype includes structural brain abnormalities.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
04 Mar 2019	Fetal anomalies v0.115	STAG2	Rebecca Foulger gene: STAG2 was added gene: STAG2 was added to Fetal anomalies. Sources: DD-Gene2Phenotype,Expert Review Green Mode of inheritance for gene: STAG2 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: STAG2 were set to 30158690; 29263825; 28296084 Phenotypes for gene: STAG2 were set to STAG2-related developmental delay with microcephaly and congenital anomalies
11 Feb 2019	Fetal anomalies v0.101	TWIST2	Rebecca Foulger commented on gene: TWIST2: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Yes [TWIST2 should be on the Fetal anomalies panel]. Very particular mutations which improve the chance of variant interpretation - gain of function for Barber-Say and ablepharon-macrostomia syndrome. May present with ambiguous genitalia (microarray may identify a male karyotype when thought that female genitalia were seen on scan) or talipes which may be identified, but other features not clear on scan (loss of lateral lower lip). Setleis type of focal facial dermal dysplasia would not present prenatally, although there is a small chance of an incidental finding if this gene is on the panel.
11 Feb 2019	Fetal anomalies v0.98	SUFU	Rebecca Foulger commented on gene: SUFU: In 4 children from 2 unrelated consanguineous families (Egyptian and Italian) with Joubert syndrome-32 (JBTS32; 617757), De Mori et al. (2017, PMID:28965847) identified 2 different homozygous missense mutations in the SUFU gene.
11 Feb 2019	Fetal anomalies v0.83	DNAH5	Rebecca Foulger commented on gene: DNAH5: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Yes [DNAH5 should be on the Fetal anomalies panel]. The prenatal phenotype would be heterotaxy and often seen on ultrasound scan and about half of affected pregnancies with this mutation would have this phenotype.
11 Feb 2019	Fetal anomalies v0.81	DEAF1	Rebecca Foulger commented on gene: DEAF1: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019): Probably not [include DEAF1 on the Fetal anomalies panel] if the panel was requested only for fetal structural anomalies. Difficult to decide as one would like to make this diagnosis prenatally. However, no structural features on ultrasound scan and this would make variant interpretation difficult – especially as some of the mutations have been missense mutations.
11 Feb 2019	Fetal anomalies v0.74	IFIH1	Rebecca Foulger commented on gene: IFIH1: Communication from Deirdre Cilliers, Oxford University Hospitals (via email, February 2019) to support Green rating: Yes [IFIH1 should be on the Fetal anomalies panel]. Aicardi-Goutieres is often missed in the prenatal period as it is assumed that there is congenital infection present (even if testing negative). When reading through the cases in the literature, I think that later ultrasound scans in pregnancy might have identified some of the IFIH1 mutations in addition to the more commonly found TREX1. I have had two families in the past 2 years where I suggested the diagnosis in the prenatal period, although in one family with two affected pregnancies we never found the mutations. However, the phenotype is also clear on ultrasound scan as it looks like infection and the screen for this is negative.
07 Jan 2019	Fetal anomalies v0.48	BGN	Rebecca Foulger Mode of inheritance for gene: BGN was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, biallelic mutations in females
11 Dec 2018	Fetal anomalies v0.9	MUT	Rebecca Foulger reviewed gene: MUT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
11 Dec 2018	Fetal anomalies v0.9	MECP2	Rebecca Foulger commented on gene: MECP2: DDG2P rating in original PAGE list: Confirmed for RETT SYNDROME (RTT)[, Confirmed for MENTAL RETARDATION SYNDROMIC X-LINKED LUBS TYPE, Confirmed for MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 13, Confirmed for CHROMOSOME XQ28 DUPLICATION SYNDROME, and Confirmed for ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS.
08 Nov 2018	Fetal anomalies v0.1	ZNF711	Rebecca Foulger gene: ZNF711 was added gene: ZNF711 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ZNF711 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZNF711 were set to MENTAL RETARDATION X-LINKED ZNF711-RELATED
08 Nov 2018	Fetal anomalies v0.1	ZIC3	Rebecca Foulger gene: ZIC3 was added gene: ZIC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZIC3 were set to VACTERL ASSOCIATION, X-LINKED, WITH OR WITHOUT HYDROCEPHALUS
08 Nov 2018	Fetal anomalies v0.1	ZDHHC9	Rebecca Foulger gene: ZDHHC9 was added gene: ZDHHC9 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ZDHHC9 were set to MENTAL RETARDATION SYNDROMIC X-LINKED ZDHHC9-RELATED
08 Nov 2018	Fetal anomalies v0.1	ZC4H2	Rebecca Foulger gene: ZC4H2 was added gene: ZC4H2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ZC4H2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: ZC4H2 were set to ARTHROGRYPOSIS MULTIPLEX CONGENITA AND INTELLECTUAL DISABILITY
08 Nov 2018	Fetal anomalies v0.1	WDR45	Rebecca Foulger gene: WDR45 was added gene: WDR45 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: WDR45 were set to NEURODEGENERATION WITH BRAIN IRON ACCUMULATION
08 Nov 2018	Fetal anomalies v0.1	USP9X	Rebecca Foulger gene: USP9X was added gene: USP9X was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: USP9X were set to MENTAL RETARDATION, X-LINKED 99
08 Nov 2018	Fetal anomalies v0.1	USP27X	Rebecca Foulger gene: USP27X was added gene: USP27X was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: USP27X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: USP27X were set to INTELLECTUAL DISABILITY
08 Nov 2018	Fetal anomalies v0.1	UPF3B	Rebecca Foulger gene: UPF3B was added gene: UPF3B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: UPF3B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: UPF3B were set to MENTAL RETARDATION SYNDROMIC X-LINKED TYPE 14
08 Nov 2018	Fetal anomalies v0.1	UBE2A	Rebecca Foulger gene: UBE2A was added gene: UBE2A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: UBE2A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: UBE2A were set to UBE2A-RELATED X-LINKED SYNDROMIC MENTAL RETARDATION
08 Nov 2018	Fetal anomalies v0.1	UBA1	Rebecca Foulger gene: UBA1 was added gene: UBA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: UBA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: UBA1 were set to Spinal muscular atrophy, X-linked 2, infantile 301830
08 Nov 2018	Fetal anomalies v0.1	TSPAN7	Rebecca Foulger gene: TSPAN7 was added gene: TSPAN7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TSPAN7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TSPAN7 were set to MENTAL RETARDATION X-LINKED TYPE 58
08 Nov 2018	Fetal anomalies v0.1	TRAPPC2	Rebecca Foulger gene: TRAPPC2 was added gene: TRAPPC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TRAPPC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TRAPPC2 were set to SPONDYLOEPIPHYSEAL DYSPLASIA TARDA
08 Nov 2018	Fetal anomalies v0.1	TIMM8A	Rebecca Foulger gene: TIMM8A was added gene: TIMM8A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TIMM8A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TIMM8A were set to JENSEN SYNDROME
08 Nov 2018	Fetal anomalies v0.1	THOC2	Rebecca Foulger gene: THOC2 was added gene: THOC2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: THOC2 were set to MENTAL RETARDATION, X-LINKED 12
08 Nov 2018	Fetal anomalies v0.1	TBX22	Rebecca Foulger gene: TBX22 was added gene: TBX22 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TBX22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TBX22 were set to CLEFT PALATE, X-LINKED
08 Nov 2018	Fetal anomalies v0.1	TAZ	Rebecca Foulger gene: TAZ was added gene: TAZ was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TAZ were set to BARTH SYNDROME
08 Nov 2018	Fetal anomalies v0.1	TAF1	Rebecca Foulger gene: TAF1 was added gene: TAF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: TAF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: TAF1 were set to Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
08 Nov 2018	Fetal anomalies v0.1	SYP	Rebecca Foulger gene: SYP was added gene: SYP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SYP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SYP were set to MENTAL RETARDATION X-LINKED SYP-RELATED
08 Nov 2018	Fetal anomalies v0.1	SYN1	Rebecca Foulger gene: SYN1 was added gene: SYN1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SYN1 were set to EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS
08 Nov 2018	Fetal anomalies v0.1	STS	Rebecca Foulger gene: STS was added gene: STS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: STS were set to ICHTHYOSIS, X-LINKED
08 Nov 2018	Fetal anomalies v0.1	SRY	Rebecca Foulger gene: SRY was added gene: SRY was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SRY was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SRY were set to 46XY SEX REVERSAL 1
08 Nov 2018	Fetal anomalies v0.1	SOX3	Rebecca Foulger gene: SOX3 was added gene: SOX3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: SOX3 were set to SEX REVERSAL TYPE 3
08 Nov 2018	Fetal anomalies v0.1	SMS	Rebecca Foulger gene: SMS was added gene: SMS was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SMS were set to SNYDER-ROBINSON SYNDROME
08 Nov 2018	Fetal anomalies v0.1	SMC1A	Rebecca Foulger gene: SMC1A was added gene: SMC1A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SMC1A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: SMC1A were set to CORNELIA DE LANGE SYNDROME TYPE 2
08 Nov 2018	Fetal anomalies v0.1	SLC9A6	Rebecca Foulger gene: SLC9A6 was added gene: SLC9A6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC9A6 were set to MENTAL RETARDATION SYNDROMIC X-LINKED CHRISTIANSON TYPE
08 Nov 2018	Fetal anomalies v0.1	SLC6A8	Rebecca Foulger gene: SLC6A8 was added gene: SLC6A8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC6A8 were set to X-LINKED CREATINE DEFICIENCY SYNDROME
08 Nov 2018	Fetal anomalies v0.1	SLC16A2	Rebecca Foulger gene: SLC16A2 was added gene: SLC16A2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: SLC16A2 were set to MCT8 (SLC16A2)-SPECIFIC THYROID HORMONE CELL TRANSPORTER DEFICIENCY
08 Nov 2018	Fetal anomalies v0.1	RPS6KA3	Rebecca Foulger gene: RPS6KA3 was added gene: RPS6KA3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: RPS6KA3 were set to COFFIN-LOWRY SYNDROME
08 Nov 2018	Fetal anomalies v0.1	RLIM	Rebecca Foulger gene: RLIM was added gene: RLIM was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RLIM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RLIM were set to INTELLECTUAL DISABILITY
08 Nov 2018	Fetal anomalies v0.1	RBM10	Rebecca Foulger gene: RBM10 was added gene: RBM10 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: RBM10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RBM10 were set to TARP SYNDROME
08 Nov 2018	Fetal anomalies v0.1	RAB39B	Rebecca Foulger gene: RAB39B was added gene: RAB39B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: RAB39B were set to MENTAL RETARDATION X-LINKED TYPE 72 (MRX72) +/- PARKINSONS
08 Nov 2018	Fetal anomalies v0.1	PTCHD1	Rebecca Foulger gene: PTCHD1 was added gene: PTCHD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PTCHD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PTCHD1 were set to AUTISM/ID
08 Nov 2018	Fetal anomalies v0.1	PRPS1	Rebecca Foulger gene: PRPS1 was added gene: PRPS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PRPS1 were set to CHARCOT-MARIE-TOOTH DISEASE X-LINKED RECESSIVE TYPE 5
08 Nov 2018	Fetal anomalies v0.1	PQBP1	Rebecca Foulger gene: PQBP1 was added gene: PQBP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PQBP1 were set to RENPENNING S(YNDROME 1
08 Nov 2018	Fetal anomalies v0.1	PORCN	Rebecca Foulger gene: PORCN was added gene: PORCN was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: PORCN were set to FOCAL DERMAL HYPOPLASIA
08 Nov 2018	Fetal anomalies v0.1	PLP1	Rebecca Foulger gene: PLP1 was added gene: PLP1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PLP1 were set to LEUKODYSTROPHY HYPOMYELINATING TYPE 1
08 Nov 2018	Fetal anomalies v0.1	PIGA	Rebecca Foulger gene: PIGA was added gene: PIGA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PIGA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PIGA were set to MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
08 Nov 2018	Fetal anomalies v0.1	PHF8	Rebecca Foulger gene: PHF8 was added gene: PHF8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PHF8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PHF8 were set to MENTAL RETARDATION SYNDROMIC X-LINKED SIDERIUS TYPE
08 Nov 2018	Fetal anomalies v0.1	PHF6	Rebecca Foulger gene: PHF6 was added gene: PHF6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PHF6 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PHF6 were set to BOERJESON-FORSSMAN-LEHMANN SYNDROME
08 Nov 2018	Fetal anomalies v0.1	PGK1	Rebecca Foulger gene: PGK1 was added gene: PGK1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PGK1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PGK1 were set to PHOSPHOGLYCERATE KINASE 1 DEFICIENCY
08 Nov 2018	Fetal anomalies v0.1	PDHA1	Rebecca Foulger gene: PDHA1 was added gene: PDHA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: PDHA1 were set to X-LINKED LEIGH SYNDROME
08 Nov 2018	Fetal anomalies v0.1	PCDH19	Rebecca Foulger gene: PCDH19 was added gene: PCDH19 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PCDH19 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: PCDH19 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 9
08 Nov 2018	Fetal anomalies v0.1	PAK3	Rebecca Foulger gene: PAK3 was added gene: PAK3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PAK3 were set to AGENESIS OF THE CORPUS CALLOSUM
08 Nov 2018	Fetal anomalies v0.1	OTC	Rebecca Foulger gene: OTC was added gene: OTC was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OTC were set to ORNITHINE TRANSCARBAMYLASE DEFICIENCY
08 Nov 2018	Fetal anomalies v0.1	OPHN1	Rebecca Foulger gene: OPHN1 was added gene: OPHN1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OPHN1 were set to MENTAL RETARDATION X-LINKED OPHN1-RELATED
08 Nov 2018	Fetal anomalies v0.1	OFD1	Rebecca Foulger gene: OFD1 was added gene: OFD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: OFD1 were set to ORAL-FACIAL-DIGITAL SYNDROME TYPE 1
08 Nov 2018	Fetal anomalies v0.1	OCRL	Rebecca Foulger gene: OCRL was added gene: OCRL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: OCRL were set to LOWE OCULOCEREBRORENAL SYNDROME
08 Nov 2018	Fetal anomalies v0.1	NYX	Rebecca Foulger gene: NYX was added gene: NYX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NYX were set to NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1A
08 Nov 2018	Fetal anomalies v0.1	NSDHL	Rebecca Foulger gene: NSDHL was added gene: NSDHL was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: NSDHL were set to CK SYNDROME
08 Nov 2018	Fetal anomalies v0.1	NR0B1	Rebecca Foulger gene: NR0B1 was added gene: NR0B1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: NR0B1 were set to 46XY sex reversal 2, dosage-sensitive 300018
08 Nov 2018	Fetal anomalies v0.1	NONO	Rebecca Foulger gene: NONO was added gene: NONO was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NONO was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NONO were set to SYNDROMIC INTELLECTUAL DISABILITY
08 Nov 2018	Fetal anomalies v0.1	NHS	Rebecca Foulger gene: NHS was added gene: NHS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NHS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NHS were set to NANCE-HORAN SYNDROME
08 Nov 2018	Fetal anomalies v0.1	NEXMIF	Rebecca Foulger gene: NEXMIF was added gene: NEXMIF was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NEXMIF was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: NEXMIF were set to KIAA2022
08 Nov 2018	Fetal anomalies v0.1	NDUFB11	Rebecca Foulger gene: NDUFB11 was added gene: NDUFB11 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: NDUFB11 were set to MICROPHTHALMIA WITH LINEAR SKIN DEFECTS SYNDROME
08 Nov 2018	Fetal anomalies v0.1	NDUFA1	Rebecca Foulger gene: NDUFA1 was added gene: NDUFA1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NDUFA1 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY
08 Nov 2018	Fetal anomalies v0.1	NDP	Rebecca Foulger gene: NDP was added gene: NDP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: NDP were set to NORRIE DISEASE
08 Nov 2018	Fetal anomalies v0.1	NAA10	Rebecca Foulger gene: NAA10 was added gene: NAA10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: NAA10 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: NAA10 were set to NONPECIFIC SEVERE ID
08 Nov 2018	Fetal anomalies v0.1	MUT	Rebecca Foulger gene: MUT was added gene: MUT was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MUT were set to METHYLMALONIC ACIDURIA TYPE MUT
08 Nov 2018	Fetal anomalies v0.1	MTM1	Rebecca Foulger gene: MTM1 was added gene: MTM1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MTM1 were set to MYOTUBULAR MYOPATHY, X-LINKED
08 Nov 2018	Fetal anomalies v0.1	MSL3	Rebecca Foulger gene: MSL3 was added gene: MSL3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MSL3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: MSL3 were set to MSL3 syndrome
08 Nov 2018	Fetal anomalies v0.1	MID1	Rebecca Foulger gene: MID1 was added gene: MID1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MID1 were set to OPITZ G/BBB SYNDROME, X-LINKED
08 Nov 2018	Fetal anomalies v0.1	MED12	Rebecca Foulger gene: MED12 was added gene: MED12 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MED12 were set to OPITZ-KAVEGGIA SYNDROME
08 Nov 2018	Fetal anomalies v0.1	MECP2	Rebecca Foulger Added phenotypes ENCEPHALOPATHY NEONATAL SEVERE DUE TO MECP2 MUTATIONS for gene: MECP2
08 Nov 2018	Fetal anomalies v0.1	MECP2	Rebecca Foulger gene: MECP2 was added gene: MECP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: MECP2 were set to RETT SYNDROME (RTT)[
08 Nov 2018	Fetal anomalies v0.1	MBTPS2	Rebecca Foulger gene: MBTPS2 was added gene: MBTPS2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: MBTPS2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MBTPS2 were set to IFAP syndrome with or without BRESHECK syndrome 308205
08 Nov 2018	Fetal anomalies v0.1	MAOA	Rebecca Foulger gene: MAOA was added gene: MAOA was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MAOA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MAOA were set to BRUNNER SYNDROME
08 Nov 2018	Fetal anomalies v0.1	MAMLD1	Rebecca Foulger gene: MAMLD1 was added gene: MAMLD1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MAMLD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: MAMLD1 were set to X-LINKED HYPOSPADIAS TYPE 2
08 Nov 2018	Fetal anomalies v0.1	LAMP2	Rebecca Foulger gene: LAMP2 was added gene: LAMP2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: LAMP2 were set to DANON DISEASE
08 Nov 2018	Fetal anomalies v0.1	L1CAM	Rebecca Foulger gene: L1CAM was added gene: L1CAM was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: L1CAM were set to MENTAL RETARDATION-APHASIA-SHUFFLING GAIT-ADDUCTED THUMBS SYNDROME
08 Nov 2018	Fetal anomalies v0.1	KDM6A	Rebecca Foulger gene: KDM6A was added gene: KDM6A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: KDM6A were set to KABUKI SYNDROME 2
08 Nov 2018	Fetal anomalies v0.1	KDM5C	Rebecca Foulger gene: KDM5C was added gene: KDM5C was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: KDM5C were set to MENTAL RETARDATION SYNDROMIC X-LINKED JARID1C-RELATED
08 Nov 2018	Fetal anomalies v0.1	IQSEC2	Rebecca Foulger gene: IQSEC2 was added gene: IQSEC2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IQSEC2 were set to MENTAL RETARDATION X-LINKED TYPE 1
08 Nov 2018	Fetal anomalies v0.1	IL1RAPL1	Rebecca Foulger gene: IL1RAPL1 was added gene: IL1RAPL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: IL1RAPL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IL1RAPL1 were set to MENTAL RETARDATION X-LINKED TYPE 21
08 Nov 2018	Fetal anomalies v0.1	IKBKG	Rebecca Foulger gene: IKBKG was added gene: IKBKG was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IKBKG were set to IMMUNODEFICIENCY NEMO-RELATED WITHOUT ANHIDROTIC ECTODERMAL DYSPLASIA
08 Nov 2018	Fetal anomalies v0.1	IGSF1	Rebecca Foulger gene: IGSF1 was added gene: IGSF1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IGSF1 were set to CENTRAL HYPOTHYROIDISM AND TESTICULAR ENLARGEMENT
08 Nov 2018	Fetal anomalies v0.1	IDS	Rebecca Foulger gene: IDS was added gene: IDS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: IDS were set to MUCOPOLYSACCHARIDOSIS TYPE 2
08 Nov 2018	Fetal anomalies v0.1	HUWE1	Rebecca Foulger gene: HUWE1 was added gene: HUWE1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HUWE1 were set to MENTAL RETARDATION SYNDROMIC X-LINKED TURNER TYPE
08 Nov 2018	Fetal anomalies v0.1	HSD17B10	Rebecca Foulger gene: HSD17B10 was added gene: HSD17B10 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HSD17B10 were set to 2-METHYL-3-HYDROXYBUTYRYL-COA DEHYDROGENASE DEFICIENCY
08 Nov 2018	Fetal anomalies v0.1	HPRT1	Rebecca Foulger gene: HPRT1 was added gene: HPRT1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HPRT1 were set to GOUT HPRT-RELATED
08 Nov 2018	Fetal anomalies v0.1	HNRNPH2	Rebecca Foulger gene: HNRNPH2 was added gene: HNRNPH2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: HNRNPH2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: HNRNPH2 were set to Neurodevelopmental Disorder in Females
08 Nov 2018	Fetal anomalies v0.1	HDAC8	Rebecca Foulger gene: HDAC8 was added gene: HDAC8 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HDAC8 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: HDAC8 were set to CORNELIA DE LANGE-LIKE SYNDROME
08 Nov 2018	Fetal anomalies v0.1	HCFC1	Rebecca Foulger gene: HCFC1 was added gene: HCFC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: HCFC1 were set to MENTAL RETARDATION, X-LINKED 3
08 Nov 2018	Fetal anomalies v0.1	HCCS	Rebecca Foulger gene: HCCS was added gene: HCCS was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: HCCS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: HCCS were set to MICROPHTHALMIA SYNDROMIC TYPE 7
08 Nov 2018	Fetal anomalies v0.1	GSPT2	Rebecca Foulger gene: GSPT2 was added gene: GSPT2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: GSPT2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GSPT2 were set to XL INTELLECTUAL DISABILITY
08 Nov 2018	Fetal anomalies v0.1	GRIA3	Rebecca Foulger gene: GRIA3 was added gene: GRIA3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GRIA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GRIA3 were set to MENTAL RETARDATION X-LINKED TYPE 94
08 Nov 2018	Fetal anomalies v0.1	GPKOW	Rebecca Foulger gene: GPKOW was added gene: GPKOW was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Amber Mode of inheritance for gene: GPKOW was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: GPKOW were set to 28612833 Phenotypes for gene: GPKOW were set to male-lethal microcephaly with intrauterine growth restriction
08 Nov 2018	Fetal anomalies v0.1	GPC3	Rebecca Foulger gene: GPC3 was added gene: GPC3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GPC3 were set to SIMPSON-GOLABI-BEHMEL SYNDROME, TYPE 1
08 Nov 2018	Fetal anomalies v0.1	GK	Rebecca Foulger gene: GK was added gene: GK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GK were set to GLYCEROL KINASE DEFICIENCY
08 Nov 2018	Fetal anomalies v0.1	GDI1	Rebecca Foulger gene: GDI1 was added gene: GDI1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: GDI1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: GDI1 were set to MENTAL RETARDATION X-LINKED TYPE 41
08 Nov 2018	Fetal anomalies v0.1	FTSJ1	Rebecca Foulger gene: FTSJ1 was added gene: FTSJ1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FTSJ1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FTSJ1 were set to MENTAL RETARDATION X-LINKED TYPE 44
08 Nov 2018	Fetal anomalies v0.1	FRMPD4	Rebecca Foulger gene: FRMPD4 was added gene: FRMPD4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: FRMPD4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FRMPD4 were set to Intellectual Disability
08 Nov 2018	Fetal anomalies v0.1	FRMD7	Rebecca Foulger gene: FRMD7 was added gene: FRMD7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FRMD7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FRMD7 were set to NYSTAGMUS 1, CONGENITAL, X-LINKED
08 Nov 2018	Fetal anomalies v0.1	FOXP3	Rebecca Foulger gene: FOXP3 was added gene: FOXP3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FOXP3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FOXP3 were set to IPEX SYNDROME
08 Nov 2018	Fetal anomalies v0.1	FMR1	Rebecca Foulger gene: FMR1 was added gene: FMR1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FMR1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: FMR1 were set to FRAGILE X TREMOR/ATAXIA SYNDROME
08 Nov 2018	Fetal anomalies v0.1	FLNA	Rebecca Foulger gene: FLNA was added gene: FLNA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: FLNA were set to OTOPALATODIGITAL SYNDROME TYPE 1
08 Nov 2018	Fetal anomalies v0.1	FHL1	Rebecca Foulger gene: FHL1 was added gene: FHL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FHL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FHL1 were set to EMERY-DREIFUSS MUSCULAR DYSTROPHY 6, X-LINKED
08 Nov 2018	Fetal anomalies v0.1	FGD1	Rebecca Foulger gene: FGD1 was added gene: FGD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FGD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FGD1 were set to AARSKOG-SCOTT SYNDROME
08 Nov 2018	Fetal anomalies v0.1	FANCB	Rebecca Foulger gene: FANCB was added gene: FANCB was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: FANCB were set to FANCB-RELATED FANCONI ANEMIA
08 Nov 2018	Fetal anomalies v0.1	EMD	Rebecca Foulger gene: EMD was added gene: EMD was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: EMD was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EMD were set to Emery-Dreifuss muscular dystrophy 1, X-linked 310300
08 Nov 2018	Fetal anomalies v0.1	EIF2S3	Rebecca Foulger gene: EIF2S3 was added gene: EIF2S3 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: EIF2S3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EIF2S3 were set to Syndromic ID with severe microcephaly
08 Nov 2018	Fetal anomalies v0.1	EFNB1	Rebecca Foulger gene: EFNB1 was added gene: EFNB1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EFNB1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: EFNB1 were set to CRANIOFRONTONASAL SYNDROME
08 Nov 2018	Fetal anomalies v0.1	EDA	Rebecca Foulger gene: EDA was added gene: EDA was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EDA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: EDA were set to ECTODERMAL DYSPLASIA TYPE 1
08 Nov 2018	Fetal anomalies v0.1	EBP	Rebecca Foulger gene: EBP was added gene: EBP was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: EBP was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: EBP were set to CHONDRODYSPLASIA PUNCTATA 2, X-LINKED
08 Nov 2018	Fetal anomalies v0.1	DLG3	Rebecca Foulger gene: DLG3 was added gene: DLG3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DLG3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DLG3 were set to MENTAL RETARDATION X-LINKED TYPE 90
08 Nov 2018	Fetal anomalies v0.1	DKC1	Rebecca Foulger gene: DKC1 was added gene: DKC1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: DKC1 were set to DKC1-RELATED DYSKERATOSIS CONGENITA
08 Nov 2018	Fetal anomalies v0.1	DDX3X	Rebecca Foulger gene: DDX3X was added gene: DDX3X was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DDX3X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: DDX3X were set to INTELLECTUAL DIABILITY
08 Nov 2018	Fetal anomalies v0.1	DCX	Rebecca Foulger gene: DCX was added gene: DCX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: DCX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: DCX were set to SUBCORTICAL BAND HETEROTOPIA X-LINKED
08 Nov 2018	Fetal anomalies v0.1	CUL4B	Rebecca Foulger gene: CUL4B was added gene: CUL4B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CUL4B were set to MENTAL RETARDATION SYNDROMIC X-LINKED CABEZAS TYPE
08 Nov 2018	Fetal anomalies v0.1	COX7B	Rebecca Foulger gene: COX7B was added gene: COX7B was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: COX7B were set to MICROPHTHALMIA WITH LINEAR SKIN LESIONS
08 Nov 2018	Fetal anomalies v0.1	CNKSR2	Rebecca Foulger gene: CNKSR2 was added gene: CNKSR2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CNKSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CNKSR2 were set to INTELLECTUAL DISABILITY WITH EPILEPSY
08 Nov 2018	Fetal anomalies v0.1	CHRDL1	Rebecca Foulger gene: CHRDL1 was added gene: CHRDL1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CHRDL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CHRDL1 were set to MEGALOCORNEA, X-LINKED
08 Nov 2018	Fetal anomalies v0.1	CDKL5	Rebecca Foulger gene: CDKL5 was added gene: CDKL5 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CDKL5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: CDKL5 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 2
08 Nov 2018	Fetal anomalies v0.1	CCDC22	Rebecca Foulger gene: CCDC22 was added gene: CCDC22 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CCDC22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: CCDC22 were set to SYNDROMIC X-LINKED INTELLECTUAL DISABILITY
08 Nov 2018	Fetal anomalies v0.1	CASK	Rebecca Foulger gene: CASK was added gene: CASK was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: CASK were set to MENTAL RETARDATION X-LINKED CASK-RELATED
08 Nov 2018	Fetal anomalies v0.1	BRWD3	Rebecca Foulger gene: BRWD3 was added gene: BRWD3 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BRWD3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BRWD3 were set to MENTAL RETARDATION X-LINKED TYPE 93
08 Nov 2018	Fetal anomalies v0.1	BGN	Rebecca Foulger gene: BGN was added gene: BGN was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BGN were set to X-Linked Spondyloepimetaphyseal Dysplasia
08 Nov 2018	Fetal anomalies v0.1	BCOR	Rebecca Foulger gene: BCOR was added gene: BCOR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BCOR was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: BCOR were set to MICROPHTHALMIA SYNDROMIC TYPE 2
08 Nov 2018	Fetal anomalies v0.1	BCAP31	Rebecca Foulger gene: BCAP31 was added gene: BCAP31 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: BCAP31 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: BCAP31 were set to DEAFNESS, DYSTONIA, AND CENTRAL HYPOMYELINATION WITH DISORGANIZATION OF THE GOLGI APPARATUS
08 Nov 2018	Fetal anomalies v0.1	ATRX	Rebecca Foulger gene: ATRX was added gene: ATRX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATRX were set to MENTAL RETARDATION SYNDROMIC X-LINKED WITH HYPOTONIC FACIES SYNDROME TYPE 1
08 Nov 2018	Fetal anomalies v0.1	ATP7A	Rebecca Foulger gene: ATP7A was added gene: ATP7A was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATP7A were set to OCCIPITAL HORN SYNDROME
08 Nov 2018	Fetal anomalies v0.1	ARX	Rebecca Foulger gene: ARX was added gene: ARX was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ARX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ARX were set to MENTAL RETARDATION X-LINKED ARX-RELATED
08 Nov 2018	Fetal anomalies v0.1	ARSE	Rebecca Foulger gene: ARSE was added gene: ARSE was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ARSE was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ARSE were set to CHONDRODYSPLASIA PUNCTATA 1, X-LINKED
08 Nov 2018	Fetal anomalies v0.1	AR	Rebecca Foulger gene: AR was added gene: AR was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AR were set to SPINAL AND BULBAR MUSCULAR ATROPHY
08 Nov 2018	Fetal anomalies v0.1	AP1S2	Rebecca Foulger gene: AP1S2 was added gene: AP1S2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AP1S2 were set to MENTAL RETARDATION X-LINKED TYPE 59
08 Nov 2018	Fetal anomalies v0.1	ANOS1	Rebecca Foulger gene: ANOS1 was added gene: ANOS1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE Additional Gene List Mode of inheritance for gene: ANOS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ANOS1 were set to Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700
08 Nov 2018	Fetal anomalies v0.1	ALG13	Rebecca Foulger gene: ALG13 was added gene: ALG13 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ALG13 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: ALG13 were set to EPILEPTIC ENCEPHALOPATHIES.
08 Nov 2018	Fetal anomalies v0.1	AIFM1	Rebecca Foulger gene: AIFM1 was added gene: AIFM1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AIFM1 were set to COWCHOCK SYNDROME
08 Nov 2018	Fetal anomalies v0.1	AFF2	Rebecca Foulger gene: AFF2 was added gene: AFF2 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: AFF2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: AFF2 were set to FRAGILE X-E MENTAL RETARDATION SYNDROME
08 Nov 2018	Fetal anomalies v0.1	ACSL4	Rebecca Foulger gene: ACSL4 was added gene: ACSL4 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: ACSL4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ACSL4 were set to ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS
08 Nov 2018	Fetal anomalies v0.1	ABCD1	Rebecca Foulger gene: ABCD1 was added gene: ABCD1 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ABCD1 were set to ADRENOLEUKODYSTROPHY, X-LINKED
08 Nov 2018	Fetal anomalies v0.1	ABCB7	Rebecca Foulger gene: ABCB7 was added gene: ABCB7 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ABCB7 were set to ANEMIA, SIDEROBLASTIC, WITH ATAXIA