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Fetal anomalies v6.140 CELSR3 Achchuthan Shanmugasundram Classified gene: CELSR3 as Amber List (moderate evidence)
Fetal anomalies v6.140 CELSR3 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are sufficient number of patients reported with biallelic variants and CNS anomalies/ CAKUT. However, previous review suggests that the disease association is not convincing. Hence, expert review is sought on whether this gene can be promoted to green rating on this panel.
Fetal anomalies v6.140 CELSR3 Achchuthan Shanmugasundram Gene: celsr3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.139 CELSR3 Achchuthan Shanmugasundram Tag Q1_26_promote_green tag was added to gene: CELSR3.
Tag Q1_26_expert_review tag was added to gene: CELSR3.
Fetal anomalies v6.139 CELSR3 Achchuthan Shanmugasundram Phenotypes for gene: CELSR3 were changed from Neurodevelopmental disorder, MONDO:0700092, CELSR3-related to neurodevelopmental disorder, MONDO:0700092; congenital anomaly of kidney and urinary tract, MONDO:0019719
Fetal anomalies v6.138 CELSR3 Achchuthan Shanmugasundram edited their review of gene: CELSR3: Added comment: PMID:38429302 (2024) reported the identification of biallelic variants in CELSR3 gene in 12 individuals from 11 unrelated families. Six of 12 patients presented with homozygous missense and five with compound heterozygous missense CELSR3 variants, while one individual carried a heterozygous missense variant and an in-frame-deletion in trans.

Affected individuals presented with an overlapping phenotypic spectrum comprising central nervous system (CNS) anomalies (7/12), combined CNS anomalies and congenital anomalies of the kidneys and urinary tract (CAKUT) (3/12) and CAKUT only (2/12).

There is also functional evidence available from zebrafish, where transient suppression of CELSR3 ortholog Celsr3 leads to anomalies in the developing CNS and urinary system.

This gene has not yet been associated with relevant phenotypes in OMIM (last accessed 26 February 2026) or ClinGen, but biallelic CELSR3 variants have been associated with 'limited' rating on the DD panel of Gene2Phenotype. This gene is also rated green on the Fetal anomalies panel of PanelApp Australia.; Changed rating: GREEN; Changed publications to: 38429302; Changed phenotypes to: neurodevelopmental disorder, MONDO:0700092, congenital anomaly of kidney and urinary tract, MONDO:0019719; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.138 PKHD1 Arina Puzriakova Phenotypes for gene: PKHD1 were changed from POLYCYSTIC KIDNEY DISEASE, AUTOSOMAL RECESSIVE to Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200
Fetal anomalies v6.137 PAICS Arina Puzriakova Publications for gene: PAICS were set to 31178128; 31600779; 3965093; 38179855; 30758658
Fetal anomalies v6.136 CYP11A1 Eleanor Williams Tag Q1_26_MOI tag was added to gene: CYP11A1.
Fetal anomalies v6.135 CYP11A1 Ida Ertmanska reviewed gene: CYP11A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11502818, 29995203, 30620006, 35418949, 39457196; Phenotypes: Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, OMIM: 613743, Congenital adrenal insufficiency with 46, XY sex reversal OR 46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency, MONDO:0013400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.135 SNAPIN Achchuthan Shanmugasundram Classified gene: SNAPIN as Amber List (moderate evidence)
Fetal anomalies v6.135 SNAPIN Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four foetuses from three unrelated families reported with biallelic SNAPIN variants and with neuroanatomical, craniofacial, and skeletal anomalies on prenatal ultrasound/MRI. Hence, this gene can be promoted to green rating in the next GMS update.
Fetal anomalies v6.135 SNAPIN Achchuthan Shanmugasundram Gene: snapin has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.134 SNAPIN Achchuthan Shanmugasundram Tag Q1_26_promote_green tag was added to gene: SNAPIN.
Fetal anomalies v6.134 BHLHE22 Arina Puzriakova Classified gene: BHLHE22 as Amber List (moderate evidence)
Fetal anomalies v6.134 BHLHE22 Arina Puzriakova Gene: bhlhe22 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.133 BHLHE22 Arina Puzriakova Tag watchlist tag was added to gene: BHLHE22.
Fetal anomalies v6.133 BHLHE22 Arina Puzriakova changed review comment from: PMID:39502664 is currently still in pre-print and therefore this gene-disease association should be considered provisional pending peer-reviewed publication.; to: PMID:39502664 is currently still in pre-print and therefore this gene-disease association should be considered provisional pending peer-reviewed publication. Discussed with R21 expert group and agreed to demote to Amber awaiting publication.
Fetal anomalies v6.133 SNAPIN Achchuthan Shanmugasundram gene: SNAPIN was added
gene: SNAPIN was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SNAPIN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNAPIN were set to 40930097
Phenotypes for gene: SNAPIN were set to Neurodevelopmental disorder with structural brain abnormalities and craniofacial abnormalities, OMIM:621393
Review for gene: SNAPIN was set to GREEN
Added comment: PMID:40930097 (2025) reported six patients from five unrelated families presenting with neuroanatomical, craniofacial, and skeletal anomalies and were identified with homozygous variants in SNAPIN gene. This included four foetuses from three unrelated families (had nonsense or splice site variants - c.91G>T/ p.Glu31Ter, c.144−1G>A & c.112C>T/ p.Gln38Ter) and two unrelated patients aged eight years old and one year old (had missense variants - c.147G>C/ p.Glu49Asp & c.163C>T/ p.Arg55Trp). One of the foetuses had intrauterine demise at 26 weeks' gestation, and the other 3 pregnancies ended in termination.

Brain abnormalities in the patients included ventriculomegaly (5/6), cerebellar hypoplasia/ atrophy (5/6) and corpus callosum agenesis (4/6). The other phenotypes included clubfeet (4/6), flexion contractures (4/6), microcephaly (3/6) and micrognathia/retrognathia (4/6).

Functional evidence is also available from zebrafish gene ablation models, which recapitulated human-relevant disease phenotypes.

This gene has been associated with relevant phenotype in OMIM (MIM #621393, last accessed on 02 January 2026), but not yet in Gene2Phenotype or ClinGen.
Sources: Literature
Fetal anomalies v6.132 WSB2 Achchuthan Shanmugasundram Classified gene: WSB2 as Amber List (moderate evidence)
Fetal anomalies v6.132 WSB2 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are three unrelated patients reported with either IUGR or Oligohydramnios. Hence, this gene can be promoted to green rating in the next GMS update.
Fetal anomalies v6.132 WSB2 Achchuthan Shanmugasundram Gene: wsb2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.131 WSB2 Achchuthan Shanmugasundram Tag Q1_26_promote_green tag was added to gene: WSB2.
Fetal anomalies v6.131 WSB2 Achchuthan Shanmugasundram gene: WSB2 was added
gene: WSB2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: WSB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WSB2 were set to 40374945
Phenotypes for gene: WSB2 were set to neurodevelopmental disorder, MONDO:0700092
Review for gene: WSB2 was set to GREEN
Added comment: PMID:40374945 reported five patients from four unrelated families with developmental delays, brain anomalies, and dysmorphic features with or without intrauterine growth restriction (IUGR) and hypotonia. They were all identified with homozygous predicted loss-of-function (pLoF) or missense variants in WSB2 gene (c.128G>A/ p.Trp43Ter, p.Gln134ArgfsTer14, c.1121G>A/ p.Arg374Gln & c.1187_1188delAA/ p.Lys396ArgfsTer19) inherited from asymptomatic consanguineous parents.

Intrauterine growth restriction (IUGR) was reported in two unrelated patients and Oligohydramnios was reported in a different unrelated patient.

There is also functional evidence available from Wsb2-mutant mice, which exhibited several neurological findings that included hyperactivity, altered exploration, and hyper alertness. They also weighed less, had a lower heart rate, and presented an abnormal retinal blood vessel morphology and vasculature pattern along with decreased total thickness of the retina.

This gene has not been associated with relevant phenotypes either in OMIM, Gene2Phenotype or ClinGen.
Sources: Literature
Fetal anomalies v6.130 MIA3 Arina Puzriakova changed review comment from: Comment on phenotypes: OMIM phenotype (Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269) accessed on 16 Dec 2025; to: Comment on phenotypes: OMIM phenotype (?Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269) accessed on 16 Dec 2025
Fetal anomalies v6.130 MIA3 Arina Puzriakova Added comment: Comment on phenotypes: OMIM phenotype (Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269) accessed on 16 Dec 2025
Fetal anomalies v6.130 MIA3 Arina Puzriakova Phenotypes for gene: MIA3 were changed from Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269 to ?Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269
Fetal anomalies v6.129 TSEN34 Ida Ertmanska Tag Q4_25_demote_amber tag was added to gene: TSEN34.
Fetal anomalies v6.129 TSEN34 Ida Ertmanska commented on gene: TSEN34: Comment on list classification: There is one patient reported in literature with a biallelic variant in TSEN34 and Pontocerebellar hypoplasia type 2. While TSEN34 shares a biochemical function with other genes known to cause Pontocerebellar hypoplasia type 2, the clinical evidence for this gene-disease association is lacking in literature. Hence, TSEN34 should be demoted to Amber for Ataxia and cerebellar anomalies - narrow panel, until more evidence emerges.
Fetal anomalies v6.129 TSEN34 Ida Ertmanska reviewed gene: TSEN34: Rating: AMBER; Mode of pathogenicity: None; Publications: 20952379, 27370523, 32476018, 37544645; Phenotypes: Pontocerebellar hypoplasia type 2C, OMIM:612390, pontocerebellar hypoplasia type 2C, MONDO:0012891; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.129 BHLHE22 Arina Puzriakova commented on gene: BHLHE22: PMID:39502664 is currently still in pre-print and therefore this gene-disease association should be considered provisional pending peer-reviewed publication.
Fetal anomalies v6.129 DHRSX Achchuthan Shanmugasundram Tag Pseudoautosomal region 1 tag was added to gene: DHRSX.
Fetal anomalies v6.129 BHLHE22 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: BHLHE22.
Fetal anomalies v6.129 WDR47 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: WDR47.
Fetal anomalies v6.129 LDB1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: LDB1.
Fetal anomalies v6.129 BORCS5 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: BORCS5.
Fetal anomalies v6.129 SENP7 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SENP7.
Fetal anomalies v6.129 SLC12A9 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SLC12A9.
Fetal anomalies v6.129 PHF5A Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: PHF5A.
Fetal anomalies v6.129 DHRSX Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: DHRSX.
Fetal anomalies v6.129 RNU5B-1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: RNU5B-1.
Fetal anomalies v6.129 C1orf127 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621080) and the OMIM record was last accessed on 18 December 2025.
Fetal anomalies v6.129 C1orf127 Achchuthan Shanmugasundram Phenotypes for gene: C1orf127 were changed from Heterotaxy, visceral, 14, autosomal, OMIM:621080 to Heterotaxy, visceral, 14, autosomal, OMIM:621080; heterotaxy, visceral, 14, autosomal, MONDO:0976135
Fetal anomalies v6.128 C1orf127 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: C1orf127.
Fetal anomalies v6.128 PAN2 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621384) and the OMIM record was last accessed on 18 December 2025.
Fetal anomalies v6.128 PAN2 Achchuthan Shanmugasundram Phenotypes for gene: PAN2 were changed from syndromic disease MONDO:0002254 to Developmental delay with variable cardiac and renal congenital anomalies and dysmorphic facies, OMIM:621384
Fetal anomalies v6.127 PAN2 Achchuthan Shanmugasundram Tag gene-checked was removed from gene: PAN2.
Fetal anomalies v6.127 AMOTL1 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621192) and the OMIM record was last accessed on 18 December 2025.
Fetal anomalies v6.127 AMOTL1 Achchuthan Shanmugasundram Phenotypes for gene: AMOTL1 were changed from Orofacial clefting syndrome, MONDO:0015335, AMOTL1-related to Craniofaciocardiohepatic syndrome, OMIM:621192; craniofaciocardiohepatic syndrome, MONDO:0978295
Fetal anomalies v6.126 AMOTL1 Achchuthan Shanmugasundram Tag gene-checked was removed from gene: AMOTL1.
Fetal anomalies v6.126 GON4L Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #621212) and the OMIM record was last accessed on 18 December 2025.
Fetal anomalies v6.126 GON4L Achchuthan Shanmugasundram Phenotypes for gene: GON4L were changed from complex neurodevelopmental disorder, MONDO:0100038 to Li-Takada-Miyake syndrome, OMIM:621212; Li-Takada-Miyake syndrome, MONDO:0978303
Fetal anomalies v6.125 GON4L Achchuthan Shanmugasundram Tag gene-checked was removed from gene: GON4L.
Fetal anomalies v6.125 TBC1D32 Achchuthan Shanmugasundram Phenotypes for gene: TBC1D32 were changed from Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795 to Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795; Alsahan-Harris syndrome, OMIM:621307; Alsahan-Harris syndrome, MONDO:0979871
Fetal anomalies v6.124 TBC1D32 Achchuthan Shanmugasundram changed review comment from: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #258865) and the OMIM record was last accessed on 18 December 2025.; to: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #258865 & #621307) and the OMIM records were last accessed on 18 December 2025.
Fetal anomalies v6.124 TBC1D32 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #258865) and the OMIM record was last accessed on 18 December 2025.
Fetal anomalies v6.124 TBC1D32 Achchuthan Shanmugasundram Phenotypes for gene: TBC1D32 were changed from OFD IX to Orofaciodigital syndrome IX, OMIM:258865; orofaciodigital syndrome IX, MONDO:0009795
Fetal anomalies v6.123 TBC1D32 Achchuthan Shanmugasundram Tag gene-checked was removed from gene: TBC1D32.
Fetal anomalies v6.123 PAICS Arina Puzriakova Added comment: Comment on phenotypes: OMIM phenotype (Phosphoribosylaminoimidazole carboxylase deficiency, OMIM:619859) accessed on 17-12-2025
Fetal anomalies v6.123 PAICS Arina Puzriakova Phenotypes for gene: PAICS were changed from Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426; Polyhydramnios; multiple congenital abnormalities; early neonatal death to Phosphoribosylaminoimidazole carboxylase deficiency, OMIM:619859; Polyhydramnios; multiple congenital abnormalities; early neonatal death
Fetal anomalies v6.122 MIA3 Arina Puzriakova Publications for gene: MIA3 were set to 32101163; 40119123; 33778321
Fetal anomalies v6.121 MIA3 Arina Puzriakova commented on gene: MIA3: Another fetal case - PMID: 40130161 (2025) - Homozygous c.2768T>G, p.(Leu923*) was detected in a fetus from a Slovenian family who presented with short bones of extremities (7 percentile), fibular aplasia, bilateral radial aplasia, tibial aplasia, hypoplastic nasal bone, delayed ossification, and congenital contractures.
Fetal anomalies v6.121 ZEB1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: ZEB1.
Tag Q3_25_NHS_review was removed from gene: ZEB1.
Fetal anomalies v6.121 WDR47 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: WDR47.
Tag Q3_25_NHS_review was removed from gene: WDR47.
Fetal anomalies v6.121 UNC13D Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: UNC13D.
Tag Q3_25_NHS_review was removed from gene: UNC13D.
Fetal anomalies v6.121 TCP1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: TCP1.
Tag Q3_25_NHS_review was removed from gene: TCP1.
Fetal anomalies v6.121 STX5 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: STX5.
Tag Q3_25_NHS_review was removed from gene: STX5.
Fetal anomalies v6.121 SRPK3 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: SRPK3.
Tag Q3_25_NHS_review was removed from gene: SRPK3.
Fetal anomalies v6.121 SPTA1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: SPTA1.
Tag Q3_25_NHS_review was removed from gene: SPTA1.
Fetal anomalies v6.121 SPOUT1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: SPOUT1.
Tag Q3_25_NHS_review was removed from gene: SPOUT1.
Fetal anomalies v6.121 SLC35A3 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: SLC35A3.
Tag Q3_25_NHS_review was removed from gene: SLC35A3.
Fetal anomalies v6.121 SLC12A9 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: SLC12A9.
Tag Q3_25_NHS_review was removed from gene: SLC12A9.
Fetal anomalies v6.121 SENP7 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: SENP7.
Tag Q3_25_NHS_review was removed from gene: SENP7.
Fetal anomalies v6.121 RPL26 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: RPL26.
Tag Q3_25_NHS_review was removed from gene: RPL26.
Fetal anomalies v6.121 RNU5B-1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: RNU5B-1.
Tag Q3_25_NHS_review was removed from gene: RNU5B-1.
Fetal anomalies v6.121 RIPPLY2 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: RIPPLY2.
Tag Q3_25_NHS_review was removed from gene: RIPPLY2.
Fetal anomalies v6.121 RAB11B Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: RAB11B.
Tag Q3_25_NHS_review was removed from gene: RAB11B.
Fetal anomalies v6.121 PUS3 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PUS3.
Tag Q3_25_NHS_review was removed from gene: PUS3.
Fetal anomalies v6.121 PTEN Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PTEN.
Tag Q3_25_NHS_review was removed from gene: PTEN.
Fetal anomalies v6.121 PSKH1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PSKH1.
Tag Q3_25_NHS_review was removed from gene: PSKH1.
Fetal anomalies v6.121 PPFIBP1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PPFIBP1.
Tag Q3_25_NHS_review was removed from gene: PPFIBP1.
Fetal anomalies v6.121 PPFIA3 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PPFIA3.
Tag Q3_25_NHS_review was removed from gene: PPFIA3.
Fetal anomalies v6.121 PLAA Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PLAA.
Tag Q3_25_NHS_review was removed from gene: PLAA.
Fetal anomalies v6.121 PIGW Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PIGW.
Tag Q3_25_NHS_review was removed from gene: PIGW.
Fetal anomalies v6.121 PIGP Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PIGP.
Tag Q3_25_NHS_review was removed from gene: PIGP.
Fetal anomalies v6.121 PIGG Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PIGG.
Tag Q3_25_NHS_review was removed from gene: PIGG.
Fetal anomalies v6.121 PI4KA Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PI4KA.
Tag Q3_25_NHS_review was removed from gene: PI4KA.
Fetal anomalies v6.121 PHF5A Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PHF5A.
Tag Q3_25_NHS_review was removed from gene: PHF5A.
Fetal anomalies v6.121 PAK2 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PAK2.
Tag Q3_25_NHS_review was removed from gene: PAK2.
Fetal anomalies v6.121 PAICS Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: PAICS.
Tag Q3_25_NHS_review was removed from gene: PAICS.
Fetal anomalies v6.121 ODC1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: ODC1.
Tag Q3_25_NHS_review was removed from gene: ODC1.
Fetal anomalies v6.121 NEXN Arina Puzriakova changed review comment from: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group. MOI has also been updated from 'BIALLELIC, autosomal or pseudoautosomal' to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' as per the review.; to: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group. MOI has also been updated from 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' to 'BIALLELIC, autosomal or pseudoautosomal' as per the review.
Fetal anomalies v6.121 NR2F1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: NR2F1.
Tag Q3_25_NHS_review was removed from gene: NR2F1.
Fetal anomalies v6.121 NODAL Achchuthan Shanmugasundram Tag Q3_25_NHS_review was removed from gene: NODAL.
Tag Q3_25_demote_red was removed from gene: NODAL.
Fetal anomalies v6.121 NEXN Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: NEXN.
Tag Q3_25_NHS_review was removed from gene: NEXN.
Fetal anomalies v6.121 NEPRO Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: NEPRO.
Tag Q3_25_NHS_review was removed from gene: NEPRO.
Fetal anomalies v6.121 NDUFB7 Achchuthan Shanmugasundram Tag Q1_25_ promote_green was removed from gene: NDUFB7.
Tag Q3_25_NHS_review was removed from gene: NDUFB7.
Fetal anomalies v6.121 MYH9 Achchuthan Shanmugasundram Tag Q3_25_NHS_review was removed from gene: MYH9.
Tag Q3_25_demote_red was removed from gene: MYH9.
Fetal anomalies v6.121 MSL2 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: MSL2.
Tag Q3_25_NHS_review was removed from gene: MSL2.
Fetal anomalies v6.121 MIA3 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: MIA3.
Tag Q3_25_NHS_review was removed from gene: MIA3.
Fetal anomalies v6.121 MED11 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: MED11.
Tag Q3_25_NHS_review was removed from gene: MED11.
Fetal anomalies v6.121 MAPK1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: MAPK1.
Tag Q3_25_NHS_review was removed from gene: MAPK1.
Fetal anomalies v6.121 MAGED2 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: MAGED2.
Tag Q3_25_NHS_review was removed from gene: MAGED2.
Fetal anomalies v6.121 LSS Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: LSS.
Tag Q3_25_NHS_review was removed from gene: LSS.
Fetal anomalies v6.121 LGI3 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: LGI3.
Tag Q3_25_NHS_review was removed from gene: LGI3.
Fetal anomalies v6.121 LDB1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: LDB1.
Tag Q3_25_NHS_review was removed from gene: LDB1.
Fetal anomalies v6.121 LAGE3 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: LAGE3.
Tag Q3_25_NHS_review was removed from gene: LAGE3.
Fetal anomalies v6.121 ITGAV Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: ITGAV.
Tag Q3_25_NHS_review was removed from gene: ITGAV.
Fetal anomalies v6.121 IFT27 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: IFT27.
Tag Q3_25_NHS_review was removed from gene: IFT27.
Fetal anomalies v6.121 HNRNPU Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: HNRNPU.
Tag Q3_25_NHS_review was removed from gene: HNRNPU.
Fetal anomalies v6.121 HDAC3 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: HDAC3.
Tag Q3_25_NHS_review was removed from gene: HDAC3.
Fetal anomalies v6.121 GNS Achchuthan Shanmugasundram Tag Q3_25_NHS_review was removed from gene: GNS.
Tag Q3_25_demote_amber was removed from gene: GNS.
Fetal anomalies v6.121 GNAI2 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: GNAI2.
Tag Q3_25_NHS_review was removed from gene: GNAI2.
Fetal anomalies v6.121 GEMIN4 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: GEMIN4.
Tag Q3_25_NHS_review was removed from gene: GEMIN4.
Fetal anomalies v6.121 GALT Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: GALT.
Tag Q3_25_NHS_review was removed from gene: GALT.
Fetal anomalies v6.121 FLVCR1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: FLVCR1.
Fetal anomalies v6.121 FAAP100 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: FAAP100.
Tag Q3_25_NHS_review was removed from gene: FAAP100.
Fetal anomalies v6.121 EXOSC8 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: EXOSC8.
Tag Q3_25_NHS_review was removed from gene: EXOSC8.
Fetal anomalies v6.121 EXOC6B Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: EXOC6B.
Tag Q3_25_NHS_review was removed from gene: EXOC6B.
Fetal anomalies v6.121 EFL1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: EFL1.
Tag Q3_25_NHS_review was removed from gene: EFL1.
Fetal anomalies v6.121 EEFSEC Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: EEFSEC.
Tag Q3_25_NHS_review was removed from gene: EEFSEC.
Fetal anomalies v6.121 MIA3 Arina Puzriakova Phenotypes for gene: MIA3 were changed from Ondontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269 to Odontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269
Fetal anomalies v6.120 C1orf127 Achchuthan Shanmugasundram Tag Q2_25_ promote_green was removed from gene: C1orf127.
Tag Q2_25_ NHS_review was removed from gene: C1orf127.
Fetal anomalies v6.120 DST Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: DST.
Tag Q3_25_NHS_review was removed from gene: DST.
Fetal anomalies v6.120 DSE Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: DSE.
Tag Q3_25_NHS_review was removed from gene: DSE.
Fetal anomalies v6.120 DHX9 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: DHX9.
Tag Q3_25_NHS_review was removed from gene: DHX9.
Fetal anomalies v6.120 DHRSX Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: DHRSX.
Tag Q3_25_NHS_review was removed from gene: DHRSX.
Fetal anomalies v6.120 CTGF Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: CTGF.
Tag Q3_25_NHS_review was removed from gene: CTGF.
Fetal anomalies v6.120 COQ2 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: COQ2.
Tag Q3_25_NHS_review was removed from gene: COQ2.
Fetal anomalies v6.120 COMP Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: COMP.
Tag Q3_25_NHS_review was removed from gene: COMP.
Fetal anomalies v6.120 COL25A1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: COL25A1.
Tag Q3_25_NHS_review was removed from gene: COL25A1.
Fetal anomalies v6.120 CELSR1 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: CELSR1.
Tag Q3_25_NHS_review was removed from gene: CELSR1.
Fetal anomalies v6.120 CDK5 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: CDK5.
Tag Q3_25_NHS_review was removed from gene: CDK5.
Fetal anomalies v6.120 C12orf66 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: C12orf66.
Tag Q3_25_NHS_review was removed from gene: C12orf66.
Fetal anomalies v6.120 BORCS5 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: BORCS5.
Tag Q3_25_NHS_review was removed from gene: BORCS5.
Fetal anomalies v6.120 BHLHE22 Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: BHLHE22.
Tag Q3_25_NHS_review was removed from gene: BHLHE22.
Fetal anomalies v6.120 ARL6IP1 Achchuthan Shanmugasundram Tag Q3_24_NHS_review was removed from gene: ARL6IP1.
Tag Q3_25_promote_green was removed from gene: ARL6IP1.
Fetal anomalies v6.120 ARL2BP Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: ARL2BP.
Tag Q3_25_NHS_review was removed from gene: ARL2BP.
Fetal anomalies v6.120 AGT Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: AGT.
Tag Q3_25_NHS_review was removed from gene: AGT.
Fetal anomalies v6.120 AGRN Achchuthan Shanmugasundram Tag Q3_25_promote_green was removed from gene: AGRN.
Tag Q3_25_NHS_review was removed from gene: AGRN.
Fetal anomalies v6.120 ZEB1 Achchuthan Shanmugasundram reviewed gene: ZEB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 WDR47 Achchuthan Shanmugasundram reviewed gene: WDR47: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 UNC13D Achchuthan Shanmugasundram edited their review of gene: UNC13D: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 TCP1 Achchuthan Shanmugasundram reviewed gene: TCP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 STX5 Achchuthan Shanmugasundram edited their review of gene: STX5: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 SRPK3 Achchuthan Shanmugasundram reviewed gene: SRPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 SPTA1 Achchuthan Shanmugasundram edited their review of gene: SPTA1: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 SPOUT1 Achchuthan Shanmugasundram reviewed gene: SPOUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 SLC35A3 Achchuthan Shanmugasundram reviewed gene: SLC35A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 SLC12A9 Achchuthan Shanmugasundram reviewed gene: SLC12A9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 SENP7 Achchuthan Shanmugasundram reviewed gene: SENP7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 RPL26 Achchuthan Shanmugasundram reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 RNU5B-1 Achchuthan Shanmugasundram reviewed gene: RNU5B-1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 RIPPLY2 Achchuthan Shanmugasundram reviewed gene: RIPPLY2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 RAB11B Achchuthan Shanmugasundram edited their review of gene: RAB11B: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 PUS3 Achchuthan Shanmugasundram reviewed gene: PUS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PTEN Achchuthan Shanmugasundram reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PSKH1 Achchuthan Shanmugasundram reviewed gene: PSKH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PPFIBP1 Achchuthan Shanmugasundram reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PPFIA3 Achchuthan Shanmugasundram reviewed gene: PPFIA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PLAA Achchuthan Shanmugasundram edited their review of gene: PLAA: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 PIGW Achchuthan Shanmugasundram reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PIGP Achchuthan Shanmugasundram reviewed gene: PIGP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PIGG Achchuthan Shanmugasundram edited their review of gene: PIGG: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 PI4KA Achchuthan Shanmugasundram edited their review of gene: PI4KA: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 PHF5A Achchuthan Shanmugasundram reviewed gene: PHF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PDE12 Achchuthan Shanmugasundram edited their review of gene: PDE12: Added comment: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. The GMS reviewers commented as follows: The concern from the panel for this one is that the two prenatal presentations are very different. There is no link between brain anomalies and hydrops. The panel want to see more evidence that the gene is causing a prenatal pehnotype and there is not another cuase of these abnormalities in these families.; Changed rating: AMBER
Fetal anomalies v6.120 PAK2 Achchuthan Shanmugasundram reviewed gene: PAK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 PAICS Achchuthan Shanmugasundram reviewed gene: PAICS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 ODC1 Achchuthan Shanmugasundram reviewed gene: ODC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 NR2F1 Achchuthan Shanmugasundram reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 NODAL Achchuthan Shanmugasundram reviewed gene: NODAL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 NEXN Achchuthan Shanmugasundram edited their review of gene: NEXN: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 NEPRO Achchuthan Shanmugasundram reviewed gene: NEPRO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 NDUFB7 Achchuthan Shanmugasundram reviewed gene: NDUFB7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 MYH9 Achchuthan Shanmugasundram reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 MSL2 Achchuthan Shanmugasundram reviewed gene: MSL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 MIA3 Achchuthan Shanmugasundram reviewed gene: MIA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 MED11 Achchuthan Shanmugasundram reviewed gene: MED11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 MAPK1 Achchuthan Shanmugasundram edited their review of gene: MAPK1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 MAGED2 Achchuthan Shanmugasundram reviewed gene: MAGED2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 LSS Achchuthan Shanmugasundram reviewed gene: LSS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 LGI3 Achchuthan Shanmugasundram reviewed gene: LGI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 LDB1 Achchuthan Shanmugasundram reviewed gene: LDB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 LAGE3 Achchuthan Shanmugasundram edited their review of gene: LAGE3: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 ITGAV Achchuthan Shanmugasundram edited their review of gene: ITGAV: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 IFT27 Achchuthan Shanmugasundram edited their review of gene: IFT27: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 HNRNPU Achchuthan Shanmugasundram reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 HDAC3 Achchuthan Shanmugasundram reviewed gene: HDAC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 GNS Achchuthan Shanmugasundram reviewed gene: GNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 GNAI2 Achchuthan Shanmugasundram reviewed gene: GNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 GEMIN4 Achchuthan Shanmugasundram reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 GALT Achchuthan Shanmugasundram reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 FLVCR1 Achchuthan Shanmugasundram reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 FLII Achchuthan Shanmugasundram reviewed gene: FLII: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 FAAP100 Achchuthan Shanmugasundram reviewed gene: FAAP100: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 EXOSC8 Achchuthan Shanmugasundram edited their review of gene: EXOSC8: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 EXOC6B Achchuthan Shanmugasundram reviewed gene: EXOC6B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 EFL1 Achchuthan Shanmugasundram reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 EEFSEC Achchuthan Shanmugasundram reviewed gene: EEFSEC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 DST Achchuthan Shanmugasundram reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 DSE Achchuthan Shanmugasundram reviewed gene: DSE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 DHX9 Achchuthan Shanmugasundram reviewed gene: DHX9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 DHRSX Achchuthan Shanmugasundram reviewed gene: DHRSX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 CTGF Achchuthan Shanmugasundram reviewed gene: CTGF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 COQ2 Achchuthan Shanmugasundram reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 COMP Achchuthan Shanmugasundram reviewed gene: COMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 COL25A1 Achchuthan Shanmugasundram edited their review of gene: COL25A1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 CELSR1 Achchuthan Shanmugasundram edited their review of gene: CELSR1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 CDK5 Achchuthan Shanmugasundram reviewed gene: CDK5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 C1orf127 Achchuthan Shanmugasundram reviewed gene: C1orf127: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 C12orf66 Achchuthan Shanmugasundram reviewed gene: C12orf66: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 BORCS5 Achchuthan Shanmugasundram reviewed gene: BORCS5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 BHLHE22 Achchuthan Shanmugasundram reviewed gene: BHLHE22: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 ARL6IP1 Achchuthan Shanmugasundram reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 ARL2BP Achchuthan Shanmugasundram reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.120 AGT Achchuthan Shanmugasundram edited their review of gene: AGT: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN
Fetal anomalies v6.120 AGRN Achchuthan Shanmugasundram reviewed gene: AGRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.119 ZEB1 Arina Puzriakova Source Expert Review Green was added to ZEB1.
Source NHS GMS was added to ZEB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 WDR47 Arina Puzriakova Source Expert Review Green was added to WDR47.
Source NHS GMS was added to WDR47.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 UNC13D Arina Puzriakova Source Expert Review Green was added to UNC13D.
Source NHS GMS was added to UNC13D.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 TCP1 Arina Puzriakova Source Expert Review Green was added to TCP1.
Source NHS GMS was added to TCP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 STX5 Arina Puzriakova Source Expert Review Green was added to STX5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 SRPK3 Arina Puzriakova Source Expert Review Green was added to SRPK3.
Source NHS GMS was added to SRPK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 SPTA1 Arina Puzriakova Source Expert Review Green was added to SPTA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 SPOUT1 Arina Puzriakova Source Expert Review Green was added to SPOUT1.
Source NHS GMS was added to SPOUT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 SLC35A3 Arina Puzriakova Source Expert Review Green was added to SLC35A3.
Source NHS GMS was added to SLC35A3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 SLC12A9 Arina Puzriakova Source Expert Review Green was added to SLC12A9.
Source NHS GMS was added to SLC12A9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 SENP7 Arina Puzriakova Source Expert Review Green was added to SENP7.
Source NHS GMS was added to SENP7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 RPL26 Arina Puzriakova Source Expert Review Green was added to RPL26.
Source NHS GMS was added to RPL26.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 RNU5B-1 Arina Puzriakova Source Expert Review Green was added to RNU5B-1.
Source NHS GMS was added to RNU5B-1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 RIPPLY2 Arina Puzriakova Source Expert Review Green was added to RIPPLY2.
Source NHS GMS was added to RIPPLY2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 RAB11B Arina Puzriakova Source Expert Review Green was added to RAB11B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PUS3 Arina Puzriakova Source Expert Review Green was added to PUS3.
Source NHS GMS was added to PUS3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PTEN Arina Puzriakova Source Expert Review Green was added to PTEN.
Source NHS GMS was added to PTEN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PSKH1 Arina Puzriakova Source Expert Review Green was added to PSKH1.
Source NHS GMS was added to PSKH1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PPFIBP1 Arina Puzriakova Source Expert Review Green was added to PPFIBP1.
Source NHS GMS was added to PPFIBP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PPFIA3 Arina Puzriakova Source Expert Review Green was added to PPFIA3.
Source NHS GMS was added to PPFIA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PLAA Arina Puzriakova Source Expert Review Green was added to PLAA.
Source NHS GMS was added to PLAA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PIGW Arina Puzriakova Source Expert Review Green was added to PIGW.
Source NHS GMS was added to PIGW.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PIGP Arina Puzriakova Source Expert Review Green was added to PIGP.
Source NHS GMS was added to PIGP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PIGG Arina Puzriakova Source Expert Review Green was added to PIGG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PI4KA Arina Puzriakova Source Expert Review Green was added to PI4KA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PHF5A Arina Puzriakova Source Expert Review Green was added to PHF5A.
Source NHS GMS was added to PHF5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PAK2 Arina Puzriakova Source Expert Review Green was added to PAK2.
Source NHS GMS was added to PAK2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 PAICS Arina Puzriakova Source Expert Review Green was added to PAICS.
Source NHS GMS was added to PAICS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 ODC1 Arina Puzriakova Source Expert Review Green was added to ODC1.
Source NHS GMS was added to ODC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 NR2F1 Arina Puzriakova Source Expert Review Green was added to NR2F1.
Source NHS GMS was added to NR2F1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 NODAL Arina Puzriakova Source Expert Review Red was added to NODAL.
Source NHS GMS was added to NODAL.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v6.119 NEXN Arina Puzriakova Source Expert Review Green was added to NEXN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 NEPRO Arina Puzriakova Source Expert Review Green was added to NEPRO.
Source NHS GMS was added to NEPRO.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 MYH9 Arina Puzriakova Source Expert Review Red was added to MYH9.
Source NHS GMS was added to MYH9.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v6.119 MSL2 Arina Puzriakova Source Expert Review Green was added to MSL2.
Source NHS GMS was added to MSL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 MIA3 Arina Puzriakova Source Expert Review Green was added to MIA3.
Source NHS GMS was added to MIA3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 MED11 Arina Puzriakova Source Expert Review Green was added to MED11.
Source NHS GMS was added to MED11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 MAPK1 Arina Puzriakova Source Expert Review Green was added to MAPK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 MAGED2 Arina Puzriakova Source Expert Review Green was added to MAGED2.
Source NHS GMS was added to MAGED2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 LSS Arina Puzriakova Source Expert Review Green was added to LSS.
Source NHS GMS was added to LSS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 LGI3 Arina Puzriakova Source Expert Review Green was added to LGI3.
Source NHS GMS was added to LGI3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 LDB1 Arina Puzriakova Source Expert Review Green was added to LDB1.
Source NHS GMS was added to LDB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 LAGE3 Arina Puzriakova Source Expert Review Green was added to LAGE3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 ITGAV Arina Puzriakova Source Expert Review Green was added to ITGAV.
Source NHS GMS was added to ITGAV.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 IFT27 Arina Puzriakova Source Expert Review Green was added to IFT27.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 HNRNPU Arina Puzriakova Source Expert Review Green was added to HNRNPU.
Source NHS GMS was added to HNRNPU.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 HDAC3 Arina Puzriakova Source Expert Review Green was added to HDAC3.
Source NHS GMS was added to HDAC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 GNS Arina Puzriakova Source Expert Review Amber was added to GNS.
Source NHS GMS was added to GNS.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v6.119 GNAI2 Arina Puzriakova Source Expert Review Green was added to GNAI2.
Source NHS GMS was added to GNAI2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 GEMIN4 Arina Puzriakova Source Expert Review Green was added to GEMIN4.
Source NHS GMS was added to GEMIN4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 GALT Arina Puzriakova Source Expert Review Green was added to GALT.
Source NHS GMS was added to GALT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 FLVCR1 Arina Puzriakova Source Expert Review Green was added to FLVCR1.
Source NHS GMS was added to FLVCR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 FAAP100 Arina Puzriakova Source Expert Review Green was added to FAAP100.
Source NHS GMS was added to FAAP100.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 EXOSC8 Arina Puzriakova Source Expert Review Green was added to EXOSC8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 EXOC6B Arina Puzriakova Source Expert Review Green was added to EXOC6B.
Source NHS GMS was added to EXOC6B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 EFL1 Arina Puzriakova Source Expert Review Green was added to EFL1.
Source NHS GMS was added to EFL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 EEFSEC Arina Puzriakova Source Expert Review Green was added to EEFSEC.
Source NHS GMS was added to EEFSEC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 DST Arina Puzriakova Source Expert Review Green was added to DST.
Source NHS GMS was added to DST.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 DSE Arina Puzriakova Source Expert Review Green was added to DSE.
Source NHS GMS was added to DSE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 DHX9 Arina Puzriakova Source Expert Review Green was added to DHX9.
Source NHS GMS was added to DHX9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 DHRSX Arina Puzriakova Source Expert Review Green was added to DHRSX.
Source NHS GMS was added to DHRSX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 CTGF Arina Puzriakova Source Expert Review Green was added to CTGF.
Source NHS GMS was added to CTGF.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 COQ2 Arina Puzriakova Source Expert Review Green was added to COQ2.
Source NHS GMS was added to COQ2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 COMP Arina Puzriakova Source Expert Review Green was added to COMP.
Source NHS GMS was added to COMP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 COL25A1 Arina Puzriakova Source Expert Review Green was added to COL25A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 CELSR1 Arina Puzriakova Source Expert Review Green was added to CELSR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 CDK5 Arina Puzriakova Source Expert Review Green was added to CDK5.
Source NHS GMS was added to CDK5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 C1orf127 Arina Puzriakova Source Expert Review Green was added to C1orf127.
Source NHS GMS was added to C1orf127.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 C12orf66 Arina Puzriakova Source Expert Review Green was added to C12orf66.
Source NHS GMS was added to C12orf66.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 BORCS5 Arina Puzriakova Source Expert Review Green was added to BORCS5.
Source NHS GMS was added to BORCS5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 BHLHE22 Arina Puzriakova Source Expert Review Green was added to BHLHE22.
Source NHS GMS was added to BHLHE22.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 ARL6IP1 Arina Puzriakova Source Expert Review Green was added to ARL6IP1.
Source NHS GMS was added to ARL6IP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 ARL2BP Arina Puzriakova Source Expert Review Green was added to ARL2BP.
Source NHS GMS was added to ARL2BP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 AGT Arina Puzriakova Source Expert Review Green was added to AGT.
Source NHS GMS was added to AGT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 AGRN Arina Puzriakova Source Expert Review Green was added to AGRN.
Source NHS GMS was added to AGRN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.119 NDUFB7 Arina Puzriakova Source Expert Review Green was added to NDUFB7.
Source NHS GMS was added to NDUFB7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v6.118 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Green List (high evidence)
Fetal anomalies v6.118 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Green List (High Evidence).
Fetal anomalies v6.117 DMPK_CTG Arina Puzriakova Tag Q3_25_promote_green was removed from STR: DMPK_CTG.
Tag Q3_25_NHS_review was removed from STR: DMPK_CTG.
Fetal anomalies v6.117 DMPK_CTG Arina Puzriakova commented on STR: DMPK_CTG: The rating of this STR has been updated to Green following NHS Genomic Medicine Service approval.
Fetal anomalies v6.117 XYLT1_GCC Arina Puzriakova commented on STR: XYLT1_GCC: R21 Clinical Oversight Group comment: Agree that this should be approved by the STR group first
Fetal anomalies v6.117 ITGAV Eleanor Williams Phenotypes for gene: ITGAV were changed from Syndromic disease, MONDO:0002254 to syndromic disease, MONDO:0002254
Fetal anomalies v6.116 GPKOW Eleanor Williams edited their review of gene: GPKOW: Changed rating: GREEN
Fetal anomalies v6.116 GPKOW Eleanor Williams edited their review of gene: GPKOW: Changed rating: AMBER
Fetal anomalies v6.116 ASXL1 Ida Ertmanska Added comment: Comment on phenotypes: OMIM phenotype accessed 3rd Nov 2025.
Fetal anomalies v6.116 ASXL1 Ida Ertmanska Phenotypes for gene: ASXL1 were changed from BOHRING-OPITZ SYNDROME to Bohring-Opitz syndrome, OMIM:605039; Bohring-Opitz syndrome, MONDO:0011510
Fetal anomalies v6.115 SCN4A Arina Puzriakova Tag Q2_25_expert_review was removed from gene: SCN4A.
Fetal anomalies v6.115 KIAA0556 Arina Puzriakova Classified gene: KIAA0556 as Amber List (moderate evidence)
Fetal anomalies v6.115 KIAA0556 Arina Puzriakova Added comment: Comment on list classification: Upgrading from Red to Amber and tagging for additional GMS expert review to determine whether there is sufficient evidence to indicate that the phenotype is prenatally relevant.

The main finding that may plausibly be detected prenatally is cerebellar hypoplasia / molar tooth sign. Other possible fetal scan findings include: PMIDs 26714646 and 32164589 each reference one case with cleft lip and palate (although the latter had dual molecular findings) and PMID 40428346 had post-axial polydactyly. Although molar-tooth sign was present in a number of cases, there is no indication that prenatal abnormalities were detected in published cases.
Fetal anomalies v6.115 KIAA0556 Arina Puzriakova Gene: kiaa0556 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.114 KIAA0556 Arina Puzriakova Phenotypes for gene: KIAA0556 were changed from Joubert syndrome 26, OMIM:616784 to Joubert syndrome 26, OMIM:616784; Joubert syndrome 26, MONDO:0014771
Fetal anomalies v6.113 KIAA0556 Arina Puzriakova Publications for gene: KIAA0556 were set to 27245168; 26714646
Fetal anomalies v6.112 KIAA0556 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: KIAA0556.
Tag Q3_25_expert_review tag was added to gene: KIAA0556.
Fetal anomalies v6.112 KIAA0556 Arina Puzriakova reviewed gene: KIAA0556: Rating: AMBER; Mode of pathogenicity: None; Publications: 26714646, 27245168, 31197031, 31197031, 36580738, 40725402, 40428346, 32164589, 30982090; Phenotypes: Joubert syndrome 26, OMIM:616784, Joubert syndrome 26, MONDO:0014771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.112 DISP1 Achchuthan Shanmugasundram Tag Q3_25_MOI tag was added to gene: DISP1.
Fetal anomalies v6.112 DISP1 Ida Ertmanska changed review comment from: There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1. Among fetal cases, there are only 2 biallelic cases with DISP1 variants alone. Other individuals harboured biallelic variants in DISP1, as well as potentially pathogenic variants in other genes. Digenic inheritance appears to be common for this condition.

PMID: 38529886 Lavillaureix et al., 2024
25 individuals with midline craniofacial defects, harbouring 23 DISP1 variants identified in heterozygous, compound heterozygous or homozygous states. Sequencing method: WES. The patients presented with holoprosencephaly of variable severity: microform (14/25), lobar (2/25), semi-alobar (2/25), and alobar (7/25). 9/25 individuals were fetuses with antenatal signs of failure of the prosencephalon to divide. As 5/9 patients with severe (alobar or semi-lobar) HPE had DISP1 variants as well as variants in other known HPE-linked genes from the SHH pathway (eg, SIX3, SHH, and PTCH1), the authors suggest oligogenic inheritance. Milder presentations (microform and lobar generally seem to arise either from monoallelic truncating variants, or biallelic missense variants in DISP1.

This gene is associated with AR/AD Holoprosencephaly 10, 621143 in OMIM (accessed 17th Oct 2025).; to: PMID: 38529886 Lavillaureix et al., 2024
25 individuals with midline craniofacial defects, harbouring 23 DISP1 variants identified in heterozygous, compound heterozygous or homozygous states. Sequencing method: WES. The patients presented with holoprosencephaly of variable severity: microform (14/25), lobar (2/25), semi-alobar (2/25), and alobar (7/25). 9/25 individuals were fetuses with antenatal signs of failure of the prosencephalon to divide. As 5/9 patients with severe (alobar or semi-lobar) HPE had DISP1 variants as well as variants in other known HPE-linked genes from the SHH pathway (eg, SIX3, SHH, and PTCH1), the authors suggest oligogenic inheritance. Milder presentations (microform and lobar generally seem to arise either from monoallelic truncating variants, or biallelic missense variants in DISP1.

This gene is associated with AR/AD Holoprosencephaly 10, 621143 in OMIM (accessed 17th Oct 2025).
Fetal anomalies v6.112 DISP1 Ida Ertmanska commented on gene: DISP1: Comment on mode of inheritance: There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1. Among fetal cases, there are only 2 biallelic cases with DISP1 variants alone. Other individuals harboured biallelic variants in DISP1, as well as potentially pathogenic variants in other genes. Digenic inheritance appears to be common for this condition. Gene tagged for expert review to decide the appropriate MOI.
Fetal anomalies v6.112 DISP1 Ida Ertmanska Tag Q3_25_expert_review tag was added to gene: DISP1.
Fetal anomalies v6.112 DISP1 Ida Ertmanska edited their review of gene: DISP1: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.112 DISP1 Ida Ertmanska edited their review of gene: DISP1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.112 DISP1 Ida Ertmanska changed review comment from: MOI should be set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1.

PMID: 38529886 Lavillaureix et al., 2024
25 individuals with midline craniofacial defects, harbouring 23 DISP1 variants identified in heterozygous, compound heterozygous or homozygous states. Sequencing method: WES. The patients presented with holoprosencephaly of variable severity: microform (14/25), lobar (2/25), semi-alobar (2/25), and alobar (7/25). 9/25 individuals were fetuses with antenatal signs of failure of the prosencephalon to divide. As 5/9 patients with severe (alobar or semi-lobar) HPE had DISP1 variants as well as variants in other known HPE-linked genes from the SHH pathway (eg, SIX3, SHH, and PTCH1), the authors suggest oligogenic inheritance. Milder presentations (microform and lobar generally seem to arise either from monoallelic truncating variants, or biallelic missense variants in DISP1.

This gene is associated with AR/AD Holoprosencephaly 10, 621143 in OMIM (accessed 17th Oct 2025).; to: There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1. Among fetal cases, there are only 2 biallelic cases with DISP1 variants alone. Other individuals harboured biallelic variants in DISP1, as well as potentially pathogenic variants in other genes. Digenic inheritance appears to be common for this condition.

PMID: 38529886 Lavillaureix et al., 2024
25 individuals with midline craniofacial defects, harbouring 23 DISP1 variants identified in heterozygous, compound heterozygous or homozygous states. Sequencing method: WES. The patients presented with holoprosencephaly of variable severity: microform (14/25), lobar (2/25), semi-alobar (2/25), and alobar (7/25). 9/25 individuals were fetuses with antenatal signs of failure of the prosencephalon to divide. As 5/9 patients with severe (alobar or semi-lobar) HPE had DISP1 variants as well as variants in other known HPE-linked genes from the SHH pathway (eg, SIX3, SHH, and PTCH1), the authors suggest oligogenic inheritance. Milder presentations (microform and lobar generally seem to arise either from monoallelic truncating variants, or biallelic missense variants in DISP1.

This gene is associated with AR/AD Holoprosencephaly 10, 621143 in OMIM (accessed 17th Oct 2025).
Fetal anomalies v6.112 DISP1 Ida Ertmanska edited their review of gene: DISP1: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.112 LAMC3 Achchuthan Shanmugasundram changed review comment from: There are seven unrelated families reported with biallelic variants (either homozygous or compound heterozygous) in LAMC3 and cortical malformations. One these cases was a foetus reported with extensive posterior Periventricular nodular heterotopia (PMID:33639934).

In addition, PMID:30266093 (2018) reported a foetus with abnormalities identified via ultrasound and with compound heterozygous LAMC3 variants

Biallelic LAMC3 variants are associated with relevant phenotypes in OMIM (MIM #614115, record accessed on 21 October 2025) and Gene2Phenotype (with 'definitive' rating on the DD panel). This gene is also green with biallelic MOI on the Fetal anomalies panel of PanelApp Australia (https://panelapp-aus.org/panels/3763/gene/LAMC3/). Biallelic LAMC3 variants are not yet associated with any relevant phenotypes in ClinGen.

Monoallelic LAMC3 variants are associated with 'complex neurodevelopmental disorder' (MONDO:0100038) with 'Disputed' rating by the Intellectual Disability and Autism expert panel in ClinGen (https://search.clinicalgenome.org/CCID:005265)

This was based on the following evidence:
Although over 25 unique variants have been reported in humans, autism spectrum disorder was the primary ascertainment for the largest number of individuals. Variants have also been reported in probands with intellectual disability and/or developmental delay. However, the variants were primarily identified in individuals with limited phenotype data from large cohort studies, and none had experimental evidence of gene impact (PMIDs: 21572417, 23160955, 27525107, 28191889, 28965761, 30564305, 31398340).

This gene should therefore remain green with Biallelic MOI on this panel.; to: There are seven unrelated families reported with biallelic variants (either homozygous or compound heterozygous) in LAMC3 and cortical malformations. One these cases was a foetus reported with extensive posterior Periventricular nodular heterotopia (PMID:33639934).

In addition, PMID:30266093 (2018) reported a foetus with abnormalities identified via ultrasound and with compound heterozygous LAMC3 variants

Biallelic LAMC3 variants are associated with relevant phenotypes in OMIM (MIM #614115, record accessed on 21 October 2025) and Gene2Phenotype (with 'definitive' rating on the DD panel). This gene is also green with biallelic MOI on the Fetal anomalies panel of PanelApp Australia (https://panelapp-aus.org/panels/3763/gene/LAMC3/). Biallelic LAMC3 variants are not yet associated with any relevant phenotypes in ClinGen.

Monoallelic LAMC3 variants are associated with 'complex neurodevelopmental disorder' (MONDO:0100038) with 'Disputed' rating by the Intellectual Disability and Autism expert panel in ClinGen (https://search.clinicalgenome.org/CCID:005265)

This was based on the following evidence:
Although over 25 unique variants have been reported in humans, autism spectrum disorder was the primary ascertainment for the largest number of individuals. Variants have also been reported in probands with intellectual disability and/or developmental delay. However, the variants were primarily identified in individuals with limited phenotype data from large cohort studies, and none had experimental evidence of gene impact (PMIDs: 21572417, 23160955, 27525107, 28191889, 28965761, 30564305, 31398340).
Fetal anomalies v6.112 LAMC3 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: The 'Disputed' rating on ClinGen is only relevant for monoallelic MOI. As there is sufficient evidence available for the association of biallelic variants with the phenotype, this gene should remain green on this panel with biallelic MOI.; to: Comment on list classification: The 'Disputed' rating on ClinGen is only relevant for monoallelic MOI. As there is sufficient evidence available for the association of biallelic variants with the phenotype, this gene should remain green with biallelic MOI on this panel.
Fetal anomalies v6.112 LAMC3 Achchuthan Shanmugasundram Classified gene: LAMC3 as Green List (high evidence)
Fetal anomalies v6.112 LAMC3 Achchuthan Shanmugasundram Added comment: Comment on list classification: The 'Disputed' rating on ClinGen is only relevant for monoallelic MOI. As there is sufficient evidence available for the association of biallelic variants with the phenotype, this gene should remain green on this panel with biallelic MOI.
Fetal anomalies v6.112 LAMC3 Achchuthan Shanmugasundram Gene: lamc3 has been classified as Green List (High Evidence).
Fetal anomalies v6.111 CDK5 Eleanor Williams Phenotypes for gene: CDK5 were changed from Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342 to Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342; lissencephaly 7 with cerebellar hypoplasia, MONDO:0014596
Fetal anomalies v6.110 SIX5 Arina Puzriakova Classified gene: SIX5 as Green List (high evidence)
Fetal anomalies v6.110 SIX5 Arina Puzriakova Added comment: Comment on list classification: As the evidence for the association of SIX5 with branchio-oto-renal syndrome is disputed, this gene should be considered for demotion to red rating in the next GMS update.
Fetal anomalies v6.110 SIX5 Arina Puzriakova Gene: six5 has been classified as Green List (High Evidence).
Fetal anomalies v6.109 SIX5 Arina Puzriakova reviewed gene: SIX5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v6.109 SIX5 Arina Puzriakova Tag Q3_25_expert_review tag was added to gene: SIX5.
Tag disputed tag was added to gene: SIX5.
Tag Q3_25_demote_red tag was added to gene: SIX5.
Fetal anomalies v6.109 SIX5 Arina Puzriakova Phenotypes for gene: SIX5 were changed from BRANCHIOOTORENAL SYNDROME TYPE 2 to Branchiootorenal syndrome 2, OMIM:610896
Fetal anomalies v6.108 LAMC3 Achchuthan Shanmugasundram Publications for gene: LAMC3 were set to 30266093
Fetal anomalies v6.107 LAMC3 Achchuthan Shanmugasundram reviewed gene: LAMC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21572413, 26802095, 29247375, 30266093, 33639934, 34354730; Phenotypes: Cortical malformations, occipital, OMIM:614115, occipital pachygyria and polymicrogyria, MONDO:0013583; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.107 LAMC3 Eleanor Williams Publications for gene: LAMC3 were set to
Fetal anomalies v6.106 LAMC3 Eleanor Williams Added comment: Comment on phenotypes: OMIM phenotype accessed on 21st October 2025
Fetal anomalies v6.106 LAMC3 Eleanor Williams Phenotypes for gene: LAMC3 were changed from OCCIPITAL CORTICAL MALFORMATIONS to Cortical malformations, occipital, OMIM:614115; occipital pachygyria and polymicrogyria, MONDO:0013583
Fetal anomalies v6.105 PTBP1 Arina Puzriakova edited their review of gene: PTBP1: Changed rating: GREEN; Changed publications to: 40965981; Changed phenotypes to: Neurodevelopmental disorder, MONDO:0700092; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.105 PTBP1 Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update based on 27 individuals from 25 families identified in PMID: 40965981 with start-loss (89%) or missense (11%) variants, confirmed de novo in 23/27 (plus 2 sibs with variant inherited from symptomatic mother, and segregation data unavailable in 2 others).

Skeletal anomalies were seen in 24 (89%), with the most prominent abnormalities comprising shortening and dysplasia of long bones and phalanges. Radiographic features included brachymetacarpia, brachymetatarsia, brachydactyly, brachytelephalangy, brachymesophalangy, and rhizomelia. Advanced bone maturation, cone-shaped epiphyses, and other features such as vertebral dysplasia were also observed.; to: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update based on 27 individuals from 25 families identified in PMID: 40965981 with start-loss (89%) or missense (11%) variants, confirmed de novo in 23/27 (plus 2 sibs with variant inherited from symptomatic mother, and segregation data unavailable in 2 others).

Prenatal ultrasound was abnormal in thirteen (48%), revealing short femora (5/13, 38%), IUGR (31%), hydramnios (2/13, 15%), increased nuchal translucency (15%), asymmetry of heart cavities (1/13, 8%), and bilateral hydronephrosis (8%). It led to the diagnosis of skeletal dysplasia in two.
Fetal anomalies v6.105 PTBP1 Arina Puzriakova Tag Q3_25_NHS_review was removed from gene: PTBP1.
Fetal anomalies v6.105 PTBP1 Arina Puzriakova Entity copied from Skeletal dysplasia v8.20
Fetal anomalies v6.105 PTBP1 Arina Puzriakova gene: PTBP1 was added
gene: PTBP1 was added to Fetal anomalies. Sources: Literature,Expert Review Amber,NHS GMS
Q3_25_promote_green, Q3_25_NHS_review tags were added to gene: PTBP1.
Mode of inheritance for gene: PTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PTBP1 were set to 40965981
Phenotypes for gene: PTBP1 were set to Neurodevelopmental disorder, MONDO:0700092
Penetrance for gene: PTBP1 were set to unknown
Fetal anomalies v6.104 KIAA0556 Eleanor Williams commented on gene: KIAA0556
Fetal anomalies v6.104 KIAA0556 Eleanor Williams Tag new-gene-name tag was added to gene: KIAA0556.
Fetal anomalies v6.104 RBFOX2 Arina Puzriakova Phenotypes for gene: RBFOX2 were changed from Congenital heart disease, MONDO:0005453 to Congenital heart disease, MONDO:0005453; hypoplastic left heart syndrome, MONDO:0004933
Fetal anomalies v6.103 PLD1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PLD1.
Tag Q3_25_expert_review tag was added to gene: PLD1.
Fetal anomalies v6.103 PLD1 Arina Puzriakova commented on gene: PLD1: This gene was previously downgraded from Green to Amber following review by Jesse Hayesmoore highlighting the presence of homozygotes in population databases, including some patient variants. However, additional cases have continued to be published albeit often with limited information and no extensive functional studies. This gene-condition has been reviewed by multiple resources including:

- ClinGen: definitive (classified on 12-02-2024) - https://search.clinicalgenome.org/CCID:008897
- G2P: definitive (classified on 19-02-2025) - https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03704
- PanelApp Australia: green on multiple panels - https://panelapp-aus.org/panels/entities/PLD1
- OMIM (last updated on 30-09-2022) - https://www.omim.org/entry/212093

Given the classification on Genomics England PanelApp currently conflicts with multiple other resources, this gene will be flagged for additional expert review during the next GMS panel release.
Fetal anomalies v6.103 PLD1 Arina Puzriakova Publications for gene: PLD1 were set to 33645542; 27799408; 33142350
Fetal anomalies v6.102 PLD1 Arina Puzriakova Added comment: Comment on phenotypes: Updated OMIM:212093 phenotype from 'Cardiac valvular defect, developmental' to 'Cardiac valvular dysplasia 1' (accessed on 20-10-2025)
Fetal anomalies v6.102 PLD1 Arina Puzriakova Phenotypes for gene: PLD1 were changed from Cardiac valvular defect, developmental, OMIM:212093; Cardiomyopathy; Congenital heart malformations to Cardiac valvular dysplasia 1, OMIM:212093; Congenital heart malformations
Fetal anomalies v6.101 PLD1 Arina Puzriakova edited their review of gene: PLD1: Added comment: Additional cases reported (not reviewed previously):

- PMID: 38171566 - based on the abstract (translated from Chinese, full-text not available) a fetus with generalized edema, complex cardiac malformation, abdominal effusion, and enhanced intestinal and renal parenchymal echoes was identified with compound heterozygous variants (c.1460G>A (p.W487*); c.2977C>T (p.R993*)) in the PLD1 gene. No functional studies mentioned.

- PMID: 39553471 - a fetus with compound heterozygous variants (c.1937G>C (p.G646A); c.1062-59A>G) was found with congenital heart disease including pulmonary atresia, regurgitation and tricuspid valve dysplasia. In silico analysis of c.1062-59A>G indicated the variant affected splicing, and subsequent RT-PCR and TA clone sequencing revealed a 76-bp intron retention and skipping of exon 11, causing a frameshift and premature stop codon in PLD1. Both variants were classified as VUS according to ACMG guidelines.

- PMID: 39681445 - title 'A case of cardiac valvular dysplasia combined with dilated cardiomyopathy caused by a homozygous nonsense variant in PLD1' indicates there is another case of cardiomyopathy linked to this gene. However, the article and abstract are in Chinese and therefore cannot be curated further.; Changed publications to: 27799408, 33142350, 33645542, 35380090, 36923242, 37770978, 38171566, 39553471, 39681445; Changed phenotypes to: Cardiac valvular dysplasia 1, OMIM:212093; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.101 DISP1 Ida Ertmanska changed review comment from: MOI should be set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1.

PMID: 38529886 Lavillaureix et al., 2024
25 individuals with midline craniofacial defects, harbouring 23 DISP1 variants identified in heterozygous, compound heterozygous or homozygous states. Sequencing method: WES. The patients presented with holoprosencephaly of variable severity: microform (14/25), lobar (2/25), semi-alobar (2/25), and alobar (7/25). As 5/9 patients with severe (alobar or semi-lobar) HPE had DISP1 variants as well as variants in other known HPE-linked genes from the SHH pathway (eg, SIX3, SHH, and PTCH1), the authors suggest oligogenic inheritance. Milder presentations (microform and lobar generally seem to arise either from monoallelic truncating variants, or biallelic missense variants in DISP1.

This gene is associated with AR/AD Holoprosencephaly 10, 621143 in OMIM (accessed 17th Oct 2025).; to: MOI should be set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal. There are at least 10 individuals with holoprosencephaly with monoallelic variants in DISP1, and at least 10 with biallelic / compound heterozygous variants in DISP1.

PMID: 38529886 Lavillaureix et al., 2024
25 individuals with midline craniofacial defects, harbouring 23 DISP1 variants identified in heterozygous, compound heterozygous or homozygous states. Sequencing method: WES. The patients presented with holoprosencephaly of variable severity: microform (14/25), lobar (2/25), semi-alobar (2/25), and alobar (7/25). 9/25 individuals were fetuses with antenatal signs of failure of the prosencephalon to divide. As 5/9 patients with severe (alobar or semi-lobar) HPE had DISP1 variants as well as variants in other known HPE-linked genes from the SHH pathway (eg, SIX3, SHH, and PTCH1), the authors suggest oligogenic inheritance. Milder presentations (microform and lobar generally seem to arise either from monoallelic truncating variants, or biallelic missense variants in DISP1.

This gene is associated with AR/AD Holoprosencephaly 10, 621143 in OMIM (accessed 17th Oct 2025).
Fetal anomalies v6.101 DISP1 Ida Ertmanska reviewed gene: DISP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 38529886; Phenotypes: Holoprosencephaly 10, OMIM:621143; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.101 LINC01082 Ida Ertmanska edited their review of gene: LINC01082: Changed phenotypes to: Alveolar capillary dysplasia with misalignment of pulmonary veins
Fetal anomalies v6.101 LINC01081 Ida Ertmanska edited their review of gene: LINC01081: Changed phenotypes to: Alveolar capillary dysplasia with misalignment of pulmonary veins
Fetal anomalies v6.101 LINC01081 Achchuthan Shanmugasundram Tag cnv tag was added to gene: LINC01081.
Tag Q3_25_promote_green tag was added to gene: LINC01081.
Tag Q3_25_expert_review tag was added to gene: LINC01081.
Tag Q3_25_NHS_review tag was added to gene: LINC01081.
Fetal anomalies v6.101 LINC01081 Achchuthan Shanmugasundram Classified gene: LINC01081 as Amber List (moderate evidence)
Fetal anomalies v6.101 LINC01081 Achchuthan Shanmugasundram Gene: linc01081 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.100 LINC01081 Achchuthan Shanmugasundram Publications for gene: LINC01081 were set to PMID: 27071622; PMID: 27822317
Fetal anomalies v6.99 LINC01082 Achchuthan Shanmugasundram Tag cnv tag was added to gene: LINC01082.
Tag Q3_25_promote_green tag was added to gene: LINC01082.
Tag Q3_25_expert_review tag was added to gene: LINC01082.
Tag Q3_25_NHS_review tag was added to gene: LINC01082.
Fetal anomalies v6.99 LINC01082 Achchuthan Shanmugasundram Classified gene: LINC01082 as Amber List (moderate evidence)
Fetal anomalies v6.99 LINC01082 Achchuthan Shanmugasundram Gene: linc01082 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.98 LINC01082 Achchuthan Shanmugasundram Publications for gene: LINC01082 were set to PMID: 27071622; PMID: 27822317
Fetal anomalies v6.97 LINC01082 Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype.

There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409) - with LINC01082 and FOXF1 being intact. At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622).
Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. According to PMID:36157490 Szafranski et al., 2022, 50 reported de novo CNV deletions arose on the maternal chromosome 16 and only 3 de novo CNV deletions arose on the paternal chromosome 16.

PMID: 40869921 Fumini et al., 2025
Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward.

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype.

Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. According to PMID:36157490 Szafranski et al., 2022, 50 reported de novo CNV deletions arose on the maternal chromosome 16 and only 3 de novo CNV deletions arose on the paternal chromosome 16.

There is only 1 individual with ACDMPV where only LINC01082 has been deleted, without affecting FOXF1 or LINC01081 (PMID: 24842713). At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622).

PMID: 40869921 Fumini et al., 2025
Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward.

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
Fetal anomalies v6.97 LINC01082 Ida Ertmanska edited their review of gene: LINC01082: Changed publications to: 19500772, 23034409, 24842713, 27071622, 36157490, 40869921
Fetal anomalies v6.97 LINC01082 Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common.

Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. According to PMID:36157490 Szafranski et al., 2022, 50 reported de novo CNV deletions arose on the maternal chromosome 16 and only 3 de novo CNV deletions arose on the paternal chromosome 16.

PMID: 27071622 Szafranski et al., 2016
22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact.

Genomic positions reference (GRh37/hg19):
FOXF1 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028.
LINC01081 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313
LINC01082 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637

Enhancer only deletions, from supplementary information:
P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin
P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected
P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected
p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter
P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale
P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted
P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted.

PMID: 19500772 Stankiewicz et al. (2009)
P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus
P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae.

PMID: 23034409 Szafranski et al. (2013a)
Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted).
P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted
P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted

PMID: 24842713 Szafranski et al. (2014)
P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream)
P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype.

There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409) - with LINC01082 and FOXF1 being intact. At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622).
Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. According to PMID:36157490 Szafranski et al., 2022, 50 reported de novo CNV deletions arose on the maternal chromosome 16 and only 3 de novo CNV deletions arose on the paternal chromosome 16.

PMID: 40869921 Fumini et al., 2025
Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward.

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
Fetal anomalies v6.97 LINC01082 Ida Ertmanska Deleted their comment
Fetal anomalies v6.97 LINC01082 Ida Ertmanska commented on gene: LINC01082: Comment on list classification: Genes in the FOXF1 enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). There is only 1 individual with ACDMPV where only LINC01082 has been deleted, without affecting FOXF1 or LINC01081 (PMID: 24842713). At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622). Hence, the testing region should be expanded to include the enhancer.
The majority of CNVs arose de novo on the maternal allele - suspected imprinting of paternal allele.
Based on the available evidence, this gene should be rated GREEN for Alveolar capillary dysplasia with misalignment of pulmonary veins.
Fetal anomalies v6.97 LINC01082 Ida Ertmanska reviewed gene: LINC01082: Rating: GREEN; Mode of pathogenicity: None; Publications: 19500772, 23034409, 24842713, 27071622; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins, OMIM:265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.97 LINC01081 Ida Ertmanska edited their review of gene: LINC01081: Changed publications to: 19500772, 23034409, 24842713, 27071622, 36157490, 40869921
Fetal anomalies v6.97 LINC01081 Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype.

There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409) - with LINC01082 and FOXF1 being intact. At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622).
Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele.

PMID: 40869921 Fumini et al., 2025
Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward.

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype.

There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409) - with LINC01082 and FOXF1 being intact. At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622).
Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele. According to PMID:36157490 Szafranski et al., 2022, 50 reported de novo CNV deletions arose on the maternal chromosome 16 and only 3 de novo CNV deletions arose on the paternal chromosome 16.

PMID: 40869921 Fumini et al., 2025
Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward.

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
Fetal anomalies v6.97 LINC01081 Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409). At least 10 other patients harboured a deletion that affected the FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622). Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele.

PMID: 40869921 Fumini et al., 2025
Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward.

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype.

There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409) - with LINC01082 and FOXF1 being intact. At least 10 other patients harboured a deletion that affected the wider FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622).
Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele.

PMID: 40869921 Fumini et al., 2025
Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward.

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
Fetal anomalies v6.97 LINC01081 Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele.

PMID: 27071622 Szafranski et al., 2016
22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact.

FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028.
LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313
LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637

Enhancer only deletions, from supplementary information:
P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin
P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected
P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected
p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter
P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale
P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted
P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted.

PMID: 19500772 Stankiewicz et al. (2009)
P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus
P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae.

PMID: 23034409 Szafranski et al. (2013a)
Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted).
P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted
P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted

PMID: 24842713 Szafranski et al. (2014)
P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream)
P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. There are at least 3 reported unrelated individuals with Alveolar capillary dysplasia with misalignment of pulmonary veins, where LINC01081 (either part or whole gene) has been deleted (PMID: 27071622, 23034409). At least 10 other patients harboured a deletion that affected the FOXF1 upstream enhancer region, but not FOXF1 itself (PMIDs: 19500772; 23034409; 24842713; 27071622). Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele.

PMID: 40869921 Fumini et al., 2025
Review of nine prenatal cases with a 16q24.1 deletion, all involving the FOXF1 gene or its enhancer region. The main ultrasound findings included increased nuchal translucency and cystic hygroma during the first trimester, and cardiac, renal, and intestinal malformations from 20 weeks of gestation onward.

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
Fetal anomalies v6.97 LINC01081 Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele.

PMID: 27071622 Szafranski et al., 2016
22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact.

FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028.
LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313
LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637

Enhancer only deletions, from supplementary information:
P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin
P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected
P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected
p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter
P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale
P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted
P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted.

PMID: 19500772 Stankiewicz et al. (2009)
P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus
P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae.

PMID: 23034409 Szafranski et al. (2013a)
Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted).
P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted
P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted

PMID: 24842713 Szafranski et al. (2014)
P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream)
P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele.

PMID: 27071622 Szafranski et al., 2016
22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact.

FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028.
LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313
LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637

Enhancer only deletions, from supplementary information:
P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin
P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected
P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected
p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter
P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale
P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted
P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted.

PMID: 19500772 Stankiewicz et al. (2009)
P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus
P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae.

PMID: 23034409 Szafranski et al. (2013a)
Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted).
P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted
P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted

PMID: 24842713 Szafranski et al. (2014)
P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream)
P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
Fetal anomalies v6.97 LINC01081 Ida Ertmanska changed review comment from: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV). Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele.

PMID: 27071622 Szafranski et al., 2016
22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact.

FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028.
LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313
LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637

Enhancer only deletions, from supplementary information:
P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin
P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected
P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected
p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter
P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale
P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted
P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted.

PMID: 19500772 Stankiewicz et al. (2009)
P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus
P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae.

PMID: 23034409 Szafranski et al. (2013a)
Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted).
P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted
P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted

PMID: 24842713 Szafranski et al. (2014)
P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream)
P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).; to: As reviewed by Hannah Robinson, LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer region of FOXF1. Like FOXF1, genes in the enhancer region have been implicated in Alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) - which may present with a severe neonatal phenotype. Aside from ACDMPV, cardiac, gastrointestinal and genitourinary phenotypes are also common. Most CNVs are de novo, arising on the maternal allele - suspected imprinting of paternal allele.

PMID: 27071622 Szafranski et al., 2016
22 new unrelated families (20 postnatal and two prenatal) with clinically diagnosed ACDMPV. In seven cases (patients 117.3, 119.3, 122.3, 126.3, 127.3, 136.3, and 139.3) the deletion CNVs affected only the upstream enhancer, leaving FOXF1 intact.

FOXF1 GRh37/hg19 (ENST00000262426.6_4) - chr16:86,544,133-86,549,028.
LINC01081 GRh37/hg19 (ENST00000806422.1_2) - chr16:86,255,967-86,338,313
LINC01082 GRh37/hg19 (ENST00000806580.1_1) - chr16:86,184,957-86,192,637

Enhancer only deletions, from supplementary information:
P122.3: 4.1 kb deletion (86,216,561-86,220,676), mapping ~ 9.1 kb upstream to LINC01082 (intergenic) - paternal origin
P117.3: 233kb deletion (86,055,159/200-86,288,226/267) - both genes affected
P119.3: 153kb deletion (86,148,250- 86,301,591) + Insertion at the break point: GCACGCA - both genes affected
p126.3: 1511kb deletion (84,875,483/490-86,386,861/868) - both genes affected, multiple other genes deleted; additional phenotypes: balanced AVSD, Intestinal malrotation, Uterus didelphys, Mildly dilated right ureter
P127.3: 92kb deletion (86,209,157/194-86,301,558/595) - LINC01081 only; additional cardiac phenotype: Patent ductus arteriosus and patent foramen ovale
P136.3: 1250kb deletion (~85,146,556-86,393,283) - both genes affected, multiple other genes deleted
P139.3: 405KB deletion (~85,877,026-86,282,104)- both genes affected, IRF8 also deleted.

PMID: 19500772 Stankiewicz et al. (2009)
P28.7 (D10): 145kb deletion ~86,140,499-86,285,499 - both genes affected; additional cardiac phenotype: Patent ductus arteriosus
P47.4 (D9): 524kb deletion 85,867,768-86,392,161 - both genes deleted, as well as IRF8; additional phenotypes: Suspected intestinal malrotation, imperforate anus; Bicornuate uterus with cervical duplication; Multiple butterfly vertebrae.

PMID: 23034409 Szafranski et al. (2013a)
Further 7 cases with enhancer deletions (5 where both genes are affected, 2 cases with only LINC01081 deleted).
P77.3: deletion of chr16:86,212,041/067-86,448,132/158 - only LINC01081 deleted
P81.3: deletion of chr16:86,194,972/195,808 - 86,354,712/355,161 - only LINC01081 deleted

PMID: 24842713 Szafranski et al. (2014)
P99.3: deletion of chr16:84,764,628/647 - 86,238,601/620 - only LINC01082 affected (and additional genes deleted upstream)
P111.3: deletion of chr16:86,077,955/958 - 86,271,915/918 - both genes affected; additional cardiac phenotype: PDA, dilated right ventricle with depressed function

This gene is not yet linked to any disease in OMIM (accessed 15th Oct 2025).
Fetal anomalies v6.97 LINC01081 Ida Ertmanska reviewed gene: LINC01081: Rating: GREEN; Mode of pathogenicity: None; Publications: 19500772, 23034409, 24842713, 27071622; Phenotypes: Alveolar capillary dysplasia with misalignment of pulmonary veins, OMIM:265380; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.97 RASA1 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: OMIM phenotype accessed on 10 October 2025.
Fetal anomalies v6.97 RASA1 Achchuthan Shanmugasundram Phenotypes for gene: RASA1 were changed from PARKES WEBER SYNDROME; CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION to Capillary malformation-arteriovenous malformation 1, OMIM:608354; capillary malformation-arteriovenous malformation 1, MONDO:0020783
Fetal anomalies v6.96 SLC46A1 Arina Puzriakova Phenotypes for gene: SLC46A1 were changed from HEREDITARY FOLATE MALABSORPTION to Folate malabsorption, hereditary, OMIM:229050
Fetal anomalies v6.95 DLD Arina Puzriakova Phenotypes for gene: DLD were changed from DIHYDROLIPOAMIDE DEHYDROGENASE (E3) DEFICIENCY; LEIGH SYNDROME to Dihydrolipoamide dehydrogenase deficiency, OMIM:246900
Fetal anomalies v6.94 SIK3 Eleanor Williams Added comment: Comment on phenotypes: OMIM phenotype accessed on 8th October 2025
Fetal anomalies v6.94 SIK3 Eleanor Williams Phenotypes for gene: SIK3 were changed from Spondyloepimetaphyseal dysplasia, Krakow type, 618162 to ?Spondyloepimetaphyseal dysplasia, Krakow type, OMIM:618162; spondyloepimetaphyseal dysplasia, Krakow type, MONDO:0032571
Fetal anomalies v6.93 DST Eleanor Williams Publications for gene: DST were set to 37431644; 40497796; 35942699
Fetal anomalies v6.92 DST Eleanor Williams Phenotypes for gene: DST were changed from Arthrogryposis multiplex congenita to Arthrogryposis multiplex congenita, MONDO:0015168; arthrogryposis, MONDO:0859248; cardiomyopathy, MONDO:0004994; congenital myopathy, MONDO:0019952
Fetal anomalies v6.91 DST Eleanor Williams Publications for gene: DST were set to 37431644
Fetal anomalies v6.90 DST Eleanor Williams reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: None; Publications: 40497796, 35942699; Phenotypes: arthrogryposis, MONDO:0859248, cardiomyopathy, MONDO:0004994, congenital myopathy, MONDO:0019952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.90 EMX2 Ida Ertmanska commented on gene: EMX2: Comment on list classification: There are at least 4 unrelated families where individuals harbouring de novo variants in EMX2 have schizencephaly - a rare severe brain malformation, leading to neurologic deficits and developmental delay (PMIDs: 8528262, 9153481, 9359037). However, the 1996-1997 studies are limited by their sequencing method (targeted gene sequencing). Subsequent studies of 3 different schizencephaly patient cohorts showed that none of the 175 affected individuals carried pathogenic EMX2 mutations (PMIDs: 17506092, 18409201, 20157829).
No other schizencephaly cases with EMX2 variants were published in literature since 1997. Other genes, such as SIX3 and SHH, have been putatively linked to schizencephaly (PMID: 20157829). Furthermore, schizencephaly may stem from non-genetic causes, such as in utero viral infections, teratogen exposure, maternal trauma, and more (PMID: 18409201). Due to outdated / conflicting evidence, this gene should be downgraded to Amber for Fetal anomalies.
Fetal anomalies v6.90 EMX2 Ida Ertmanska reviewed gene: EMX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 8528262, 9153481, 9359037, 17506092, 18409201, 20157829; Phenotypes: Schizencephaly, OMIM:269160, schizencephaly, MONDO:0010011; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.90 ERCC1 Arina Puzriakova Phenotypes for gene: ERCC1 were changed from CEREBROOCULOFACIOSKELETAL SYNDROME 4; FANCONI ANEMIA to Cerebrooculofacioskeletal syndrome 4, OMIM:610758
Fetal anomalies v6.89 EMX2 Eleanor Williams Tag Q3_25_expert_review tag was added to gene: EMX2.
Fetal anomalies v6.89 EMX2 Eleanor Williams Added comment: Comment on phenotypes: OMIM phenotype accessed on 29th September 2025
Fetal anomalies v6.89 EMX2 Eleanor Williams Phenotypes for gene: EMX2 were changed from Schizencephaly, 269160 to Schizencephaly, OMIM:269160; schizencephaly, MONDO:0010011
Fetal anomalies v6.88 EMX2 Eleanor Williams Publications for gene: EMX2 were set to
Fetal anomalies v6.87 EMX2 Eleanor Williams Tag Q3_25_demote_amber tag was added to gene: EMX2.
Fetal anomalies v6.87 VSX2 Arina Puzriakova Phenotypes for gene: VSX2 were changed from MICROPHTHALMIA WITH CATARACTS AND IRIS ABNORMALITIES; MICROPHTHALMIA ISOLATED WITH COLOBOMA TYPE 3; MICROPHTHALMIA ISOLATED TYPE 2 to Microphthalmia, isolated 2, OMIM:610093; Microphthalmia/coloboma 3, OMIM:610092
Fetal anomalies v6.86 PDE12 Arina Puzriakova Tag Q3_25_promote_green was removed from gene: PDE12.
Tag Q3_25_expert_review was removed from gene: PDE12.
Fetal anomalies v6.86 PDE12 Arina Puzriakova commented on gene: PDE12: Maintaining Amber rating following further consultation with the expert group - The concern is that the two prenatal presentations are very different. There is no link between brain anomalies and hydrops. The panel want to see more evidence that the gene is causing a prenatal phenotype and there is not another cause of these abnormalities in these families.
Fetal anomalies v6.86 NDUFB7 Arina Puzriakova Phenotypes for gene: NDUFB7 were changed from Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135; Mitochondrial complex I deficiency, nuclear type 39 to Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135
Fetal anomalies v6.85 NDUFB7 Arina Puzriakova Tag Q1_25_ expert_review was removed from gene: NDUFB7.
Tag Q3_25_NHS_review tag was added to gene: NDUFB7.
Fetal anomalies v6.85 NDUFB7 Arina Puzriakova commented on gene: NDUFB7: Following further consultation with the expert group, it was decided that this gene should be rated Green on this panel as there is sufficient evidence to support an association with a prenatal phenotype.
Fetal anomalies v6.85 FLII Arina Puzriakova Tag Q3_25_promote_green was removed from gene: FLII.
Tag Q3_25_expert_review was removed from gene: FLII.
Tag Q3_25_NHS_review was removed from gene: FLII.
Fetal anomalies v6.85 FLII Arina Puzriakova commented on gene: FLII: Maintaining as Amber following further consultation with the expert group - this gene causes isolated cardiac anomalies which is not an indication for R21 fetal anomaly testing. However, we do want to monitor in case of new reports where it is not isolated.
Fetal anomalies v6.85 CCT6A Arina Puzriakova Tag gene-checked tag was added to gene: CCT6A.
Fetal anomalies v6.85 EVC2 Arina Puzriakova Tag Q3_25_MOI tag was added to gene: EVC2.
Fetal anomalies v6.85 CTGF Arina Puzriakova Phenotypes for gene: CTGF were changed from kyphomelic dysplasia, MONDO:0008881; spondyloepimetaphyseal dysplasia, MONDO:0100510 to Kyphomelic dysplasia, OMIM:211350; kyphomelic dysplasia, MONDO:0008881; spondyloepimetaphyseal dysplasia, MONDO:0100510
Fetal anomalies v6.84 EVC2 Eleanor Williams Publications for gene: EVC2 were set to
Fetal anomalies v6.83 EVC2 Eleanor Williams Added comment: Comment on phenotypes: Phenotypes accessed in OMIM on 22nd September 2025
Fetal anomalies v6.83 EVC2 Eleanor Williams Phenotypes for gene: EVC2 were changed from ELLIS-VAN CREVELD SYNDROME; ACROFACIAL DYSOSTOSIS WEYERS TYPE to Ellis-van Creveld syndrome, OMIM:225500 Weyers acrofacial dysostosis, OMIM:193530
Fetal anomalies v6.82 FLII Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: FLII.
Tag Q3_25_expert_review tag was added to gene: FLII.
Tag Q3_25_NHS_review tag was added to gene: FLII.
Fetal anomalies v6.82 FLII Arina Puzriakova changed review comment from: New gene added to this panel with an Amber rating, inline with the recent review by the R21 Clinical Oversight Group.; to: New gene added to this panel with an Amber rating, inline with the recent review by the R21 Clinical Oversight Group. However, tagging for additional review as this rating contradicts the review comment "Sufficient evidence for gene-disease association and may present prenatally with structural heart defects in some cases" and this gene is tagged for promotion to Green on the R135 Paediatric or syndromic cardiomyopathy panel.
Fetal anomalies v6.82 SIRT6 Arina Puzriakova Tag Q2_25_ promote_green was removed from gene: SIRT6.
Tag Q2_25_expert_review was removed from gene: SIRT6.
Fetal anomalies v6.82 C14orf80 Arina Puzriakova commented on gene: C14orf80: Added new-gene-name tag as the latest HGNC symbol for C14orf80 is TEDC1
Fetal anomalies v6.82 C14orf80 Arina Puzriakova Tag new-gene-name tag was added to gene: C14orf80.
Fetal anomalies v6.82 PDE12 Arina Puzriakova Tag Q3_25_expert_review tag was added to gene: PDE12.
Fetal anomalies v6.82 PDE12 Arina Puzriakova changed review comment from: Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group.; to: Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group. However, tagging for additional expert review to resolve conflicting reviews - first reviewed as Green by Achchuthan Shanmugasundram but then as Amber by Alice Gardham based on the same evidence.
Fetal anomalies v6.82 NDUFB7 Arina Puzriakova edited their review of gene: NDUFB7: Changed rating: GREEN
Fetal anomalies v6.82 NDUFB7 Arina Puzriakova changed review comment from: Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group.; to: Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group. However, tagging for additional expert review to resolve conflicting reviews - first reviewed as Green by me but then as Amber by Vicki Harrison based on the same evidence.
Fetal anomalies v6.82 ITGAV Arina Puzriakova changed review comment from: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.; to: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.

Previously curated as Amber as only one family had fetal cases reported on; however as noted in Natalie Canham review, all affected individuals have brain anomalies which could be detected prenatally. Therefore this gene can be rated Green.
Fetal anomalies v6.82 FAAP100 Arina Puzriakova Phenotypes for gene: FAAP100 were changed from Fanconi anemia to Fanconi anemia, complementation group X, OMIM:621258
Fetal anomalies v6.81 FAAP100 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: FAAP100.
Tag Q3_25_NHS_review tag was added to gene: FAAP100.
Fetal anomalies v6.81 BORCS5 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: BORCS5.
Tag Q3_25_NHS_review tag was added to gene: BORCS5.
Fetal anomalies v6.81 MAGED2 Arina Puzriakova Phenotypes for gene: MAGED2 were changed from Bartter syndrome, type 5, antenatal, transient to Bartter syndrome, type 5, antenatal, transient, OMIM:300971
Fetal anomalies v6.80 MAGED2 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: MAGED2.
Tag Q3_25_NHS_review tag was added to gene: MAGED2.
Fetal anomalies v6.80 ZEB1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: ZEB1.
Tag Q3_25_NHS_review tag was added to gene: ZEB1.
Fetal anomalies v6.80 WDR47 Arina Puzriakova Phenotypes for gene: WDR47 were changed from Complex neurodevelopmental disorder to neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v6.79 WDR47 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: WDR47.
Tag Q3_25_NHS_review tag was added to gene: WDR47.
Fetal anomalies v6.79 UNC13D Arina Puzriakova Phenotypes for gene: UNC13D were changed from Hemophagocytic lymphohistiocytosis, familial, 3, OMIM:608898; Hemophagocytic lymphohistiocytosis, familial, 3 to Hemophagocytic lymphohistiocytosis, familial, 3, OMIM:608898
Fetal anomalies v6.78 UNC13D Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: UNC13D.
Tag Q3_25_NHS_review tag was added to gene: UNC13D.
Fetal anomalies v6.78 TCP1 Arina Puzriakova Phenotypes for gene: TCP1 were changed from Intellectual developmental disorder with polymicrogyria and seizures to Intellectual developmental disorder with polymicrogyria and seizures, OMIM:621021
Fetal anomalies v6.77 TCP1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: TCP1.
Tag Q3_25_NHS_review tag was added to gene: TCP1.
Fetal anomalies v6.77 STX5 Arina Puzriakova Phenotypes for gene: STX5 were changed from ?Congenital disorder of glycosylation, type IIaa, OMIM:620454; Congenital disorder of glycosylation, type IIaa to Congenital disorder of glycosylation, type IIaa, OMIM:620454
Fetal anomalies v6.76 STX5 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: STX5.
Tag Q3_25_NHS_review tag was added to gene: STX5.
Fetal anomalies v6.76 SRPK3 Arina Puzriakova Phenotypes for gene: SRPK3 were changed from X-linked intellectual developmental disorder-114 to Intellectual developmental disorder, X-linked 114, OMIM:301134
Fetal anomalies v6.75 SRPK3 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: SRPK3.
Tag Q3_25_NHS_review tag was added to gene: SRPK3.
Fetal anomalies v6.75 SPTA1 Arina Puzriakova Tag watchlist was removed from gene: SPTA1.
Tag Q3_25_promote_green tag was added to gene: SPTA1.
Tag Q3_25_NHS_review tag was added to gene: SPTA1.
Fetal anomalies v6.75 SPOUT1 Arina Puzriakova Phenotypes for gene: SPOUT1 were changed from Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities to Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities, OMIM:621154
Fetal anomalies v6.74 SPOUT1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: SPOUT1.
Tag Q3_25_NHS_review tag was added to gene: SPOUT1.
Fetal anomalies v6.74 SLC35A3 Arina Puzriakova Phenotypes for gene: SLC35A3 were changed from Arthrogryposis, mental retardation, and seizures, OMIM:615553 to Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553
Fetal anomalies v6.73 SLC35A3 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: SLC35A3.
Tag Q3_25_NHS_review tag was added to gene: SLC35A3.
Fetal anomalies v6.73 SLC12A9 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: SLC12A9.
Tag Q3_25_NHS_review tag was added to gene: SLC12A9.
Fetal anomalies v6.73 SENP7 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: SENP7.
Tag Q3_25_NHS_review tag was added to gene: SENP7.
Fetal anomalies v6.73 RPL26 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: RPL26.
Tag Q3_25_NHS_review tag was added to gene: RPL26.
Fetal anomalies v6.73 RNU5B-1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: RNU5B-1.
Tag Q3_25_NHS_review tag was added to gene: RNU5B-1.
Fetal anomalies v6.73 RIPPLY2 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: RIPPLY2.
Tag Q3_25_NHS_review tag was added to gene: RIPPLY2.
Fetal anomalies v6.73 RAB11B Arina Puzriakova Phenotypes for gene: RAB11B were changed from Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter; Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807 to Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807
Fetal anomalies v6.72 RAB11B Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: RAB11B.
Tag Q3_25_NHS_review tag was added to gene: RAB11B.
Fetal anomalies v6.72 PUS3 Arina Puzriakova Phenotypes for gene: PUS3 were changed from Neurodevelopmental disorder with microcephaly and gray sclerae to Neurodevelopmental disorder with microcephaly and gray sclerae, OMIM:617051
Fetal anomalies v6.71 PUS3 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PUS3.
Tag Q3_25_NHS_review tag was added to gene: PUS3.
Fetal anomalies v6.71 PTEN Arina Puzriakova Phenotypes for gene: PTEN were changed from COWDEN DISEASE; Cowden syndrome 1; LHERMITTE-DUCLOS DISEASE; PROTEUS SYNDROME; MACROCEPHALY/AUTISM SYNDROME; BANNAYAN-ZONANA SYNDROME; VACTERL ASSOCIATION WITH HYDROCEPHALUS to Cowden syndrome 1, OMIM:158350
Fetal anomalies v6.70 PTEN Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PTEN.
Tag Q3_25_NHS_review tag was added to gene: PTEN.
Fetal anomalies v6.70 PSKH1 Arina Puzriakova Phenotypes for gene: PSKH1 were changed from hepatorenal syndrome, MONDO:0001382 to Cholestasis, progressive familial intrahepatic, 13, OMIM:620962
Fetal anomalies v6.69 PSKH1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PSKH1.
Tag Q3_25_NHS_review tag was added to gene: PSKH1.
Fetal anomalies v6.69 PPFIBP1 Arina Puzriakova Phenotypes for gene: PPFIBP1 were changed from Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities, OMIM:620024
Fetal anomalies v6.68 PPFIBP1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PPFIBP1.
Tag Q3_25_NHS_review tag was added to gene: PPFIBP1.
Fetal anomalies v6.68 PPFIA3 Arina Puzriakova Phenotypes for gene: PPFIA3 were changed from Paul-Chao neurodevelopmental syndrome to Paul-Chao neurodevelopmental syndrome, OMIM:621122
Fetal anomalies v6.67 PPFIA3 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PPFIA3.
Tag Q3_25_NHS_review tag was added to gene: PPFIA3.
Fetal anomalies v6.67 PLAA Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PLAA.
Tag Q3_25_NHS_review tag was added to gene: PLAA.
Fetal anomalies v6.67 PIGW Arina Puzriakova Phenotypes for gene: PIGW were changed from Glycosylphosphatidylinositol biosynthesis defect 11 to Glycosylphosphatidylinositol biosynthesis defect 11, OMIM:616025
Fetal anomalies v6.66 PIGW Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PIGW.
Tag Q3_25_NHS_review tag was added to gene: PIGW.
Fetal anomalies v6.66 PIGP Arina Puzriakova Phenotypes for gene: PIGP were changed from Developmental and epileptic encephalopathy 55 to Developmental and epileptic encephalopathy 55, OMIM:617599
Fetal anomalies v6.65 PIGP Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PIGP.
Tag Q3_25_NHS_review tag was added to gene: PIGP.
Fetal anomalies v6.65 PIGG Arina Puzriakova Phenotypes for gene: PIGG were changed from Intellectual Disability with Seizures and Hypotonia; Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, OMIM:616917; Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy to Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, OMIM:616917
Fetal anomalies v6.64 PIGG Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PIGG.
Tag Q3_25_NHS_review tag was added to gene: PIGG.
Fetal anomalies v6.64 PI4KA Arina Puzriakova Phenotypes for gene: PI4KA were changed from Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
Fetal anomalies v6.63 PI4KA Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PI4KA.
Tag Q3_25_NHS_review tag was added to gene: PI4KA.
Fetal anomalies v6.63 PHF5A Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PHF5A.
Tag Q3_25_NHS_review tag was added to gene: PHF5A.
Fetal anomalies v6.63 PAK2 Arina Puzriakova Phenotypes for gene: PAK2 were changed from Knobloch syndrome 2 to Knobloch syndrome 2, OMIM:618458
Fetal anomalies v6.62 PAK2 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PAK2.
Tag Q3_25_NHS_review tag was added to gene: PAK2.
Fetal anomalies v6.62 PAICS Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: PAICS.
Tag Q3_25_NHS_review tag was added to gene: PAICS.
Fetal anomalies v6.62 ODC1 Arina Puzriakova Phenotypes for gene: ODC1 were changed from Bachmann-Bupp syndrome to Bachmann-Bupp syndrome, OMIM:619075
Fetal anomalies v6.61 ODC1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: ODC1.
Tag Q3_25_NHS_review tag was added to gene: ODC1.
Fetal anomalies v6.61 NR2F1 Arina Puzriakova Phenotypes for gene: NR2F1 were changed from BOSCH-BOONSTRA OPTIC ATROPHY SYNDROME; Bosch-Boonstra-Schaaf optic atrophy syndrome to Bosch-Boonstra-Schaaf optic atrophy syndrome, OMIM:615722
Fetal anomalies v6.60 NR2F1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: NR2F1.
Tag Q3_25_NHS_review tag was added to gene: NR2F1.
Fetal anomalies v6.60 NEXN Arina Puzriakova Tag watchlist was removed from gene: NEXN.
Tag Q3_25_promote_green tag was added to gene: NEXN.
Tag Q3_25_NHS_review tag was added to gene: NEXN.
Fetal anomalies v6.60 NEPRO Arina Puzriakova commented on gene: NEPRO: The 'new-gene-name' tag has been added to this gene as the latest HGNC gene symbol for NEPRO is RMP64.
Fetal anomalies v6.60 NEPRO Arina Puzriakova Tag new-gene-name tag was added to gene: NEPRO.
Tag Q3_25_promote_green tag was added to gene: NEPRO.
Tag Q3_25_NHS_review tag was added to gene: NEPRO.
Fetal anomalies v6.60 MSL2 Arina Puzriakova Phenotypes for gene: MSL2 were changed from Karayol-Borroto-Haghshenas neurodevelopmental syndrome to Karayol-Borroto-Haghshenas neurodevelopmental syndrome, OMIM:620985
Fetal anomalies v6.59 MIA3 Arina Puzriakova Tag Q3_25_NHS_review tag was added to gene: MIA3.
Fetal anomalies v6.59 MSL2 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: MSL2.
Tag Q3_25_NHS_review tag was added to gene: MSL2.
Fetal anomalies v6.59 MIA3 Arina Puzriakova Phenotypes for gene: MIA3 were changed from Odontochondrodysplasia-2 with hearing loss and diabetes to Ondontochondrodysplasia 2 with hearing loss and diabetes, OMIM:619269
Fetal anomalies v6.58 MIA3 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: MIA3.
Fetal anomalies v6.58 MED11 Arina Puzriakova Phenotypes for gene: MED11 were changed from Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities to Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities, OMIM:620327
Fetal anomalies v6.57 MED11 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: MED11.
Tag Q3_25_NHS_review tag was added to gene: MED11.
Fetal anomalies v6.57 MAPK1 Arina Puzriakova Phenotypes for gene: MAPK1 were changed from Noonan syndrome 13; Noonan syndrome 13, OMIM:619087 to Noonan syndrome 13, OMIM:619087
Fetal anomalies v6.56 MAPK1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: MAPK1.
Tag Q3_25_NHS_review tag was added to gene: MAPK1.
Fetal anomalies v6.56 LSS Arina Puzriakova Phenotypes for gene: LSS were changed from Cataract 44; Alopecia-intellectual disability syndrome 4 to Alopecia-intellectual disability syndrome 4, OMIM:618840; Cataract 44, OMIM:616509
Fetal anomalies v6.55 LSS Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: LSS.
Tag Q3_25_NHS_review tag was added to gene: LSS.
Fetal anomalies v6.55 LGI3 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: LGI3.
Tag Q3_25_NHS_review tag was added to gene: LGI3.
Fetal anomalies v6.55 LDB1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: LDB1.
Tag Q3_25_NHS_review tag was added to gene: LDB1.
Fetal anomalies v6.55 LAGE3 Arina Puzriakova Phenotypes for gene: LAGE3 were changed from Galloway-Mowat syndrome 2, X-linked; Galloway-Mowat syndrome 2, X-linked, OMIM:301006 to Galloway-Mowat syndrome 2, X-linked, OMIM:301006
Fetal anomalies v6.54 LAGE3 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: LAGE3.
Tag Q3_25_NHS_review tag was added to gene: LAGE3.
Fetal anomalies v6.54 C12orf66 Arina Puzriakova commented on gene: C12orf66: Added new-gene-name tag, new approved HGNC gene symbol for C12orf66 is KICS2
Fetal anomalies v6.54 C12orf66 Arina Puzriakova Tag new-gene-name tag was added to gene: C12orf66.
Tag Q3_25_promote_green tag was added to gene: C12orf66.
Tag Q3_25_NHS_review tag was added to gene: C12orf66.
Fetal anomalies v6.54 C12orf66 Arina Puzriakova Phenotypes for gene: C12orf66 were changed from Intellectual developmental disorder, autosomal recessive 83 to Intellectual developmental disorder, autosomal recessive 83, OMIM:621100
Fetal anomalies v6.53 ITGAV Arina Puzriakova Phenotypes for gene: ITGAV were changed from syndromic disease, MONDO:0002254; Syndromic disease, MONDO:0002254 to Syndromic disease, MONDO:0002254
Fetal anomalies v6.52 ITGAV Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: ITGAV.
Tag Q3_25_NHS_review tag was added to gene: ITGAV.
Fetal anomalies v6.52 IFT27 Arina Puzriakova Phenotypes for gene: IFT27 were changed from Bardet-Biedl syndrome 19, OMIM:615996; Bardet-Biedl syndrome 19 to Bardet-Biedl syndrome 19, OMIM:615996
Fetal anomalies v6.51 IFT27 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: IFT27.
Tag Q3_25_NHS_review tag was added to gene: IFT27.
Fetal anomalies v6.51 HNRNPU Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: HNRNPU.
Tag Q3_25_NHS_review tag was added to gene: HNRNPU.
Fetal anomalies v6.51 HNRNPU Arina Puzriakova Phenotypes for gene: HNRNPU were changed from EPILEPTIC ENCEPHALOPATHY; Developmental and epileptic encephalopathy 54 to Developmental and epileptic encephalopathy 54, OMIM:617391
Fetal anomalies v6.50 HDAC3 Arina Puzriakova Phenotypes for gene: HDAC3 were changed from HDAC3-related neurodevelopmental disorder to neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v6.49 HDAC3 Arina Puzriakova Tag gene-checked tag was added to gene: HDAC3.
Fetal anomalies v6.49 HDAC3 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: HDAC3.
Tag Q3_25_NHS_review tag was added to gene: HDAC3.
Fetal anomalies v6.49 GNAI2 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: GNAI2.
Tag Q3_25_NHS_review tag was added to gene: GNAI2.
Fetal anomalies v6.49 GEMIN4 Arina Puzriakova Phenotypes for gene: GEMIN4 were changed from Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities, OMIM:617913
Fetal anomalies v6.48 GEMIN4 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: GEMIN4.
Tag Q3_25_NHS_review tag was added to gene: GEMIN4.
Fetal anomalies v6.48 GALT Arina Puzriakova Phenotypes for gene: GALT were changed from Galactosemia; GALACTOSEMIA to Galactosemia, OMIM:230400
Fetal anomalies v6.47 GALT Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: GALT.
Tag Q3_25_NHS_review tag was added to gene: GALT.
Fetal anomalies v6.47 EXOSC8 Arina Puzriakova Phenotypes for gene: EXOSC8 were changed from Pontocerebellar hypoplasia, type 1C, OMIM:616081; Pontocerebellar hypoplasia type 1C to Pontocerebellar hypoplasia, type 1C, OMIM:616081
Fetal anomalies v6.46 EXOSC8 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: EXOSC8.
Tag Q3_25_NHS_review tag was added to gene: EXOSC8.
Fetal anomalies v6.46 EXOC6B Arina Puzriakova Phenotypes for gene: EXOC6B were changed from Spondyloepimetaphyseal dysplasia with joint laxity, type 3 to Spondyloepimetaphyseal dysplasia with joint laxity, type 3, OMIM:618395
Fetal anomalies v6.45 EXOC6B Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: EXOC6B.
Tag Q3_25_NHS_review tag was added to gene: EXOC6B.
Fetal anomalies v6.45 EFL1 Arina Puzriakova Phenotypes for gene: EFL1 were changed from Shwachman-Diamond syndrome 2 to Shwachman-Diamond syndrome 2, OMIM:617941
Fetal anomalies v6.44 EFL1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: EFL1.
Tag Q3_25_NHS_review tag was added to gene: EFL1.
Fetal anomalies v6.44 EEFSEC Arina Puzriakova Phenotypes for gene: EEFSEC were changed from Neurodevelopmental disorder with progressive spasticity and brain abnormalities to Neurodevelopmental disorder with progressive spasticity and brain abnormalities, OMIM:621102
Fetal anomalies v6.43 EEFSEC Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: EEFSEC.
Tag Q3_25_NHS_review tag was added to gene: EEFSEC.
Fetal anomalies v6.43 DST Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: DST.
Tag Q3_25_NHS_review tag was added to gene: DST.
Fetal anomalies v6.43 DSE Arina Puzriakova Phenotypes for gene: DSE were changed from Ehlers-Danlos syndrome, musculocontractural type 2 to Ehlers-Danlos syndrome, musculocontractural type 2, OMIM:615539
Fetal anomalies v6.42 DSE Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: DSE.
Tag Q3_25_NHS_review tag was added to gene: DSE.
Fetal anomalies v6.42 DHX9 Arina Puzriakova Phenotypes for gene: DHX9 were changed from Intellectual developmental disorder, autosomal dominant 75 to Intellectual developmental disorder, autosomal dominant 75, OMIM:620988
Fetal anomalies v6.41 DHX9 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: DHX9.
Tag Q3_25_NHS_review tag was added to gene: DHX9.
Fetal anomalies v6.41 DHRSX Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: DHRSX.
Tag Q3_25_NHS_review tag was added to gene: DHRSX.
Fetal anomalies v6.41 COQ2 Arina Puzriakova Phenotypes for gene: COQ2 were changed from COENZYME Q10 DEFICIENCY; Coenzyme Q10 deficiency, primary, 1 to Coenzyme Q10 deficiency, primary, 1, OMIM:607426
Fetal anomalies v6.40 COQ2 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: COQ2.
Tag Q3_25_NHS_review tag was added to gene: COQ2.
Fetal anomalies v6.40 COMP Arina Puzriakova Phenotypes for gene: COMP were changed from Pseudoachondroplasia; MULTIPLE EPIPHYSEAL DYSPLASIA TYPE 1; Epiphyseal dysplasia, multiple, 1; ARE THE CAUSE OF PSEUDOACHONDROPLASIA to Epiphyseal dysplasia, multiple, 1, OMIM:132400; Pseudoachondroplasia, OMIM:177170
Fetal anomalies v6.39 COMP Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: COMP.
Tag Q3_25_NHS_review tag was added to gene: COMP.
Fetal anomalies v6.39 COL25A1 Arina Puzriakova Phenotypes for gene: COL25A1 were changed from Arthrogryposis multiplex congenita, MONDO:0015168; Arthrogryposis multiplex congenita to Arthrogryposis multiplex congenita, MONDO:0015168
Fetal anomalies v6.38 COL25A1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: COL25A1.
Tag Q3_25_NHS_review tag was added to gene: COL25A1.
Fetal anomalies v6.38 C1orf127 Arina Puzriakova Phenotypes for gene: C1orf127 were changed from Heterotaxy, visceral, 14, autosomal; Heterotaxy, visceral, 14, autosomal, OMIM:621080 to Heterotaxy, visceral, 14, autosomal, OMIM:621080
Fetal anomalies v6.37 CELSR1 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: CELSR1.
Tag Q3_25_NHS_review tag was added to gene: CELSR1.
Fetal anomalies v6.37 CELSR1 Arina Puzriakova Phenotypes for gene: CELSR1 were changed from Lymphatic malformation 9, OMIM:619319; Lymphatic malformation-9 to Lymphatic malformation 9, OMIM:619319
Fetal anomalies v6.36 CDK5 Arina Puzriakova Phenotypes for gene: CDK5 were changed from Lissencephaly 7 with cerebellar hypoplasia to Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342
Fetal anomalies v6.35 CDK5 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: CDK5.
Tag Q3_25_NHS_review tag was added to gene: CDK5.
Fetal anomalies v6.35 CTGF Arina Puzriakova Phenotypes for gene: CTGF were changed from Kyphomelic dysplasia to kyphomelic dysplasia, MONDO:0008881; spondyloepimetaphyseal dysplasia, MONDO:0100510
Fetal anomalies v6.34 CTGF Arina Puzriakova Tag new-gene-name tag was added to gene: CTGF.
Tag Q3_25_promote_green tag was added to gene: CTGF.
Tag Q3_25_NHS_review tag was added to gene: CTGF.
Fetal anomalies v6.34 BHLHE22 Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: BHLHE22.
Tag Q3_25_NHS_review tag was added to gene: BHLHE22.
Fetal anomalies v6.34 ARL6IP1 Arina Puzriakova Tag Q3_24_NHS_review tag was added to gene: ARL6IP1.
Tag Q3_25_promote_green tag was added to gene: ARL6IP1.
Fetal anomalies v6.34 ARL2BP Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: ARL2BP.
Tag Q3_25_NHS_review tag was added to gene: ARL2BP.
Fetal anomalies v6.34 ARL2BP Arina Puzriakova Phenotypes for gene: ARL2BP were changed from Situs Inversus to Retinitis pigmentosa 82 with or without situs inversus, OMIM:615434; Situs Inversus
Fetal anomalies v6.33 AGT Arina Puzriakova Phenotypes for gene: AGT were changed from Renal tubular dysgenesis, OMIM:267430; Renal tubular dysgenesis to Renal tubular dysgenesis, OMIM:267430
Fetal anomalies v6.32 AGT Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: AGT.
Tag Q3_25_NHS_review tag was added to gene: AGT.
Fetal anomalies v6.32 AGRN Arina Puzriakova Tag Q3_25_promote_green tag was added to gene: AGRN.
Tag Q3_25_NHS_review tag was added to gene: AGRN.
Fetal anomalies v6.32 AGRN Arina Puzriakova Phenotypes for gene: AGRN were changed from Fetal akinesia deformation sequence, MONDO:0008824; Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects to Fetal akinesia deformation sequence, MONDO:0008824; Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, OMIM:615120
Fetal anomalies v6.31 NODAL Arina Puzriakova Phenotypes for gene: NODAL were changed from Heterotaxy, visceral, 5; HETEROTAXY SYNDROME to Heterotaxy, visceral, 5, OMIM:270100
Fetal anomalies v6.30 NODAL Arina Puzriakova Tag Q3_25_NHS_review tag was added to gene: NODAL.
Tag Q3_25_demote_red tag was added to gene: NODAL.
Fetal anomalies v6.30 MYH9 Arina Puzriakova Phenotypes for gene: MYH9 were changed from DEAFNESS AUTOSOMAL DOMINANT TYPE 17; MAY-HEGGLIN ANOMALY; SEBASTIAN SYNDROME; FECHTNER SYNDROME; EPSTEIN SYNDROME; Deafness, autosomal dominant 17; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; MACROTHROMBOCYTOPENIA WITH PROGRESSIVE SENSORINEURAL DEAFNESS to Deafness, autosomal dominant 17; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss
Fetal anomalies v6.29 MYH9 Arina Puzriakova Tag Q3_25_NHS_review tag was added to gene: MYH9.
Tag Q3_25_demote_red tag was added to gene: MYH9.
Fetal anomalies v6.29 GNS Arina Puzriakova Tag Q3_25_NHS_review tag was added to gene: GNS.
Tag Q3_25_demote_amber tag was added to gene: GNS.
Fetal anomalies v6.29 CDH11 Arina Puzriakova reviewed gene: CDH11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 FAAP100 Arina Puzriakova reviewed gene: FAAP100: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 BORCS5 Arina Puzriakova reviewed gene: BORCS5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MAGED2 Arina Puzriakova reviewed gene: MAGED2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ZNRF3 Arina Puzriakova reviewed gene: ZNRF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ZNHIT3 Arina Puzriakova reviewed gene: ZNHIT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ZNF808 Arina Puzriakova reviewed gene: ZNF808: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ZMYND11 Arina Puzriakova reviewed gene: ZMYND11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ZEB1 Arina Puzriakova reviewed gene: ZEB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 WDR47 Arina Puzriakova reviewed gene: WDR47: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 UNC50 Arina Puzriakova reviewed gene: UNC50: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 UNC13D Arina Puzriakova edited their review of gene: UNC13D: Added comment: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.; Changed rating: GREEN
Fetal anomalies v6.29 TPM1 Arina Puzriakova reviewed gene: TPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 C14orf80 Arina Puzriakova reviewed gene: C14orf80: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 TCP1 Arina Puzriakova reviewed gene: TCP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 TCF20 Arina Puzriakova reviewed gene: TCF20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 TAAR1 Arina Puzriakova reviewed gene: TAAR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SUPT7L Arina Puzriakova reviewed gene: SUPT7L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 STXBP2 Arina Puzriakova reviewed gene: STXBP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 STX5 Arina Puzriakova reviewed gene: STX5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 STX11 Arina Puzriakova reviewed gene: STX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SRPK3 Arina Puzriakova reviewed gene: SRPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SRP54 Arina Puzriakova reviewed gene: SRP54: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SPTA1 Arina Puzriakova edited their review of gene: SPTA1: Added comment: Upgraded from Red to Amber but there is sufficient evidence to make Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group. MOI has also been updated from 'BIALLELIC, autosomal or pseudoautosomal' to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' as per the review.; Changed rating: GREEN
Fetal anomalies v6.29 SPOUT1 Arina Puzriakova reviewed gene: SPOUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SNAPC4 Arina Puzriakova reviewed gene: SNAPC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SLC35A3 Arina Puzriakova reviewed gene: SLC35A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SLC30A5 Arina Puzriakova reviewed gene: SLC30A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SLC19A1 Arina Puzriakova reviewed gene: SLC19A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SLC12A9 Arina Puzriakova reviewed gene: SLC12A9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SIRT6 Arina Puzriakova reviewed gene: SIRT6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SENP7 Arina Puzriakova reviewed gene: SENP7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 SEL1L Arina Puzriakova reviewed gene: SEL1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 RPL26 Arina Puzriakova reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 RNU5B-1 Arina Puzriakova reviewed gene: RNU5B-1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 RNU5A-1 Arina Puzriakova reviewed gene: RNU5A-1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 RNF31 Arina Puzriakova reviewed gene: RNF31: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 RIPPLY2 Arina Puzriakova reviewed gene: RIPPLY2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 RBFOX2 Arina Puzriakova reviewed gene: RBFOX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 RAB11B Arina Puzriakova reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PYGL Arina Puzriakova reviewed gene: PYGL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PUS3 Arina Puzriakova reviewed gene: PUS3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PURA Arina Puzriakova reviewed gene: PURA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PTEN Arina Puzriakova reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PSKH1 Arina Puzriakova reviewed gene: PSKH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PROC Arina Puzriakova reviewed gene: PROC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PPFIBP1 Arina Puzriakova reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PPFIA3 Arina Puzriakova reviewed gene: PPFIA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 POU3F3 Arina Puzriakova reviewed gene: POU3F3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PLVAP Arina Puzriakova reviewed gene: PLVAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PLAA Arina Puzriakova reviewed gene: PLAA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PIGW Arina Puzriakova reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PIGQ Arina Puzriakova reviewed gene: PIGQ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PIGP Arina Puzriakova reviewed gene: PIGP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PIGM Arina Puzriakova reviewed gene: PIGM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PIGG Arina Puzriakova reviewed gene: PIGG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PIGC Arina Puzriakova reviewed gene: PIGC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PI4KA Arina Puzriakova reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PHF5A Arina Puzriakova reviewed gene: PHF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PDE12 Arina Puzriakova reviewed gene: PDE12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PDCD2 Arina Puzriakova reviewed gene: PDCD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PAK2 Arina Puzriakova reviewed gene: PAK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 PAICS Arina Puzriakova reviewed gene: PAICS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 OSBPL9 Arina Puzriakova reviewed gene: OSBPL9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ODC1 Arina Puzriakova reviewed gene: ODC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NUP214 Arina Puzriakova reviewed gene: NUP214: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NT5E Arina Puzriakova reviewed gene: NT5E: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NR2F1 Arina Puzriakova reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NODAL Arina Puzriakova reviewed gene: NODAL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NMNAT1 Arina Puzriakova reviewed gene: NMNAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NKX2-6 Arina Puzriakova reviewed gene: NKX2-6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NFASC Arina Puzriakova reviewed gene: NFASC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NEXN Arina Puzriakova edited their review of gene: NEXN: Added comment: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group. MOI has also been updated from 'BIALLELIC, autosomal or pseudoautosomal' to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' as per the review.; Changed rating: GREEN
Fetal anomalies v6.29 NEUROD1 Arina Puzriakova reviewed gene: NEUROD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NEPRO Arina Puzriakova reviewed gene: NEPRO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NDUFB7 Arina Puzriakova edited their review of gene: NDUFB7: Added comment: Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group.; Changed rating: AMBER
Fetal anomalies v6.29 NAGS Arina Puzriakova reviewed gene: NAGS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 NAGLU Arina Puzriakova reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MYL2 Arina Puzriakova reviewed gene: MYL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MYH9 Arina Puzriakova reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MSL2 Arina Puzriakova reviewed gene: MSL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MPL Arina Puzriakova reviewed gene: MPL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MIA3 Arina Puzriakova reviewed gene: MIA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MET Arina Puzriakova reviewed gene: MET: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MED11 Arina Puzriakova reviewed gene: MED11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MAPK1 Arina Puzriakova reviewed gene: MAPK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MAP3K3 Arina Puzriakova reviewed gene: MAP3K3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MAN2B2 Arina Puzriakova reviewed gene: MAN2B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 MAL Arina Puzriakova reviewed gene: MAL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 LSS Arina Puzriakova reviewed gene: LSS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 LRRC8C Arina Puzriakova reviewed gene: LRRC8C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 LIPN Arina Puzriakova reviewed gene: LIPN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 LGI3 Arina Puzriakova reviewed gene: LGI3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 LDB1 Arina Puzriakova reviewed gene: LDB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 LAGE3 Arina Puzriakova reviewed gene: LAGE3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 KMT2E Arina Puzriakova reviewed gene: KMT2E: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 C12orf66 Arina Puzriakova reviewed gene: C12orf66: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 KDM6B Arina Puzriakova reviewed gene: KDM6B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 KDM1A Arina Puzriakova reviewed gene: KDM1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 KCNH2 Arina Puzriakova reviewed gene: KCNH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 KCNB1 Arina Puzriakova reviewed gene: KCNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 KBTBD2 Arina Puzriakova reviewed gene: KBTBD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 KAT7 Arina Puzriakova reviewed gene: KAT7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 JPH1 Arina Puzriakova reviewed gene: JPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ITGAV Arina Puzriakova reviewed gene: ITGAV: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 IRF4 Arina Puzriakova reviewed gene: IRF4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 IFT27 Arina Puzriakova reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 HNRNPU Arina Puzriakova reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 HIRA Arina Puzriakova reviewed gene: HIRA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 HECTD1 Arina Puzriakova reviewed gene: HECTD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 HDAC3 Arina Puzriakova reviewed gene: HDAC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GUK1 Arina Puzriakova reviewed gene: GUK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GTPBP1 Arina Puzriakova reviewed gene: GTPBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GNS Arina Puzriakova reviewed gene: GNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GNPNAT1 Arina Puzriakova reviewed gene: GNPNAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GNAI2 Arina Puzriakova reviewed gene: GNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GEMIN4 Arina Puzriakova reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GDAP1 Arina Puzriakova reviewed gene: GDAP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GATA5 Arina Puzriakova reviewed gene: GATA5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 GALT Arina Puzriakova reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 G6PD Arina Puzriakova reviewed gene: G6PD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 FLVCR1 Arina Puzriakova reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 FLII Arina Puzriakova reviewed gene: FLII: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 FGG Arina Puzriakova reviewed gene: FGG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 FBXW11 Arina Puzriakova reviewed gene: FBXW11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 FBXO22 Arina Puzriakova reviewed gene: FBXO22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 FAM177A1 Arina Puzriakova reviewed gene: FAM177A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 EXOSC8 Arina Puzriakova reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 EXOC6B Arina Puzriakova reviewed gene: EXOC6B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ERG Arina Puzriakova reviewed gene: ERG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 EFL1 Arina Puzriakova reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 EEFSEC Arina Puzriakova reviewed gene: EEFSEC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DVL2 Arina Puzriakova reviewed gene: DVL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DTNA Arina Puzriakova reviewed gene: DTNA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DST Arina Puzriakova reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DSE Arina Puzriakova reviewed gene: DSE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DSC2 Arina Puzriakova reviewed gene: DSC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DOHH Arina Puzriakova reviewed gene: DOHH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DNAJC21 Arina Puzriakova reviewed gene: DNAJC21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DHX9 Arina Puzriakova reviewed gene: DHX9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DHRSX Arina Puzriakova reviewed gene: DHRSX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DDX17 Arina Puzriakova reviewed gene: DDX17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 DAND5 Arina Puzriakova reviewed gene: DAND5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 CYP24A1 Arina Puzriakova reviewed gene: CYP24A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 COQ2 Arina Puzriakova reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 COMP Arina Puzriakova reviewed gene: COMP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 COL25A1 Arina Puzriakova reviewed gene: COL25A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 C1orf127 Arina Puzriakova commented on gene: C1orf127: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.
Fetal anomalies v6.29 CHAF1A Arina Puzriakova reviewed gene: CHAF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 CFI Arina Puzriakova reviewed gene: CFI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 CELSR1 Arina Puzriakova edited their review of gene: CELSR1: Added comment: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.; Changed rating: GREEN
Fetal anomalies v6.29 CDK5 Arina Puzriakova reviewed gene: CDK5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 CCT8 Arina Puzriakova reviewed gene: CCT8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 CCT6A Arina Puzriakova reviewed gene: CCT6A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 CCT3 Arina Puzriakova reviewed gene: CCT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 CTGF Arina Puzriakova reviewed gene: CTGF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 BRD2 Arina Puzriakova reviewed gene: BRD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 BORCS8 Arina Puzriakova reviewed gene: BORCS8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 BICRA Arina Puzriakova reviewed gene: BICRA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 BHLHE22 Arina Puzriakova reviewed gene: BHLHE22: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 BAIAP2 Arina Puzriakova reviewed gene: BAIAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ASCC3 Arina Puzriakova reviewed gene: ASCC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ARPC5 Arina Puzriakova reviewed gene: ARPC5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ARL6IP1 Arina Puzriakova reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ARL2BP Arina Puzriakova reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 AGT Arina Puzriakova edited their review of gene: AGT: Added comment: There is sufficient evidence to promote this gene to Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.; Changed rating: GREEN
Fetal anomalies v6.29 AGRN Arina Puzriakova edited their review of gene: AGRN: Added comment: Upgraded from Red to Amber but there is sufficient evidence to make Green at the next GMS panel update, inline with the recent review by the R21 Clinical Oversight Group.; Changed rating: GREEN
Fetal anomalies v6.29 ACTN2 Arina Puzriakova reviewed gene: ACTN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v6.29 ACO2 Arina Puzriakova edited their review of gene: ACO2: Added comment: Amber rating has been maintained, inline with the recent review by the R21 Clinical Oversight Group.; Changed rating: AMBER
Fetal anomalies v6.28 CDH11 Natalie Chandler commented on gene: CDH11: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 FAAP100 Sarah Graham commented on gene: FAAP100: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 BORCS5 Sarah Graham commented on gene: BORCS5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MAGED2 Sarah Graham commented on gene: MAGED2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ZNRF3 Sarah Graham commented on gene: ZNRF3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ZNHIT3 Sarah Graham commented on gene: ZNHIT3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ZNF808 Elizabeth Wall commented on gene: ZNF808: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ZMYND11 Natalie Bibb commented on gene: ZMYND11: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ZEB1 Sarah Graham commented on gene: ZEB1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 WDR47 Sarah Graham commented on gene: WDR47: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 UNC50 Sarah Graham commented on gene: UNC50: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 UNC13D Anna de Burca commented on gene: UNC13D: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 TPM1 Alice Gardham commented on gene: TPM1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 C14orf80 Sunayna Best commented on gene: C14orf80: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 TCP1 Natalie Bibb commented on gene: TCP1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 TCF20 Stephanie Allen commented on gene: TCF20: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 TAAR1 Sarah Graham commented on gene: TAAR1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SUPT7L Soo-Mi Park commented on gene: SUPT7L: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 STXBP2 Alice Gardham commented on gene: STXBP2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 STX5 Sahar Mansour commented on gene: STX5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 STX11 Vicki Harrison commented on gene: STX11: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SRPK3 Sarah Graham commented on gene: SRPK3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SRP54 Stephanie Allen commented on gene: SRP54: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SPTA1 Sarah Graham commented on gene: SPTA1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SPOUT1 Sunayna Best commented on gene: SPOUT1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SNAPC4 Esther Kinning commented on gene: SNAPC4: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SLC35A3 Sunayna Best commented on gene: SLC35A3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SLC30A5 Natalie Chandler commented on gene: SLC30A5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SLC19A1 Soo-Mi Park commented on gene: SLC19A1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SLC12A9 Sarah Graham commented on gene: SLC12A9: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SIRT6 Natalie Canham commented on gene: SIRT6: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SENP7 Natalie Bibb commented on gene: SENP7: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 SEL1L Anna de Burca commented on gene: SEL1L: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 RPL26 Elizabeth Wall commented on gene: RPL26: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 RNU5B-1 Natalie Chandler commented on gene: RNU5B-1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 RNU5A-1 Natalie Chandler commented on gene: RNU5A-1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 RNF31 Natalie Chandler commented on gene: RNF31: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 RIPPLY2 Sahar Mansour commented on gene: RIPPLY2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 RBFOX2 Anna de Burca commented on gene: RBFOX2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 RAB11B Sahar Mansour commented on gene: RAB11B: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PYGL Soo-Mi Park commented on gene: PYGL: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PUS3 Elizabeth Scotchman commented on gene: PUS3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PURA Natalie Canham commented on gene: PURA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PTEN Sunayna Best commented on gene: PTEN: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PSKH1 Sarah Graham commented on gene: PSKH1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PROC Elizabeth Wall commented on gene: PROC: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PPFIBP1 Stephanie Allen commented on gene: PPFIBP1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PPFIA3 Stephanie Allen commented on gene: PPFIA3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 POU3F3 Natalie Chandler commented on gene: POU3F3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PLVAP Alice Gardham commented on gene: PLVAP: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PLAA Stephanie Allen commented on gene: PLAA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PIGW Sahar Mansour commented on gene: PIGW: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PIGQ Esther Kinning commented on gene: PIGQ: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PIGP Elizabeth Wall commented on gene: PIGP: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PIGM Elizabeth Scotchman commented on gene: PIGM: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PIGG Anna de Burca commented on gene: PIGG: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PIGC Alice Gardham commented on gene: PIGC: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PI4KA Anna de Burca commented on gene: PI4KA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PHF5A Vicki Harrison commented on gene: PHF5A: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PDE12 Alice Gardham commented on gene: PDE12: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PDCD2 Soo-Mi Park commented on gene: PDCD2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PAK2 Sarah Graham commented on gene: PAK2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 PAICS Sunayna Best commented on gene: PAICS: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 OSBPL9 Natalie Chandler commented on gene: OSBPL9: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ODC1 Anna de Burca commented on gene: ODC1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NUP214 Stephanie Allen commented on gene: NUP214: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NT5E Natalie Chandler commented on gene: NT5E: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NR2F1 Soo-Mi Park commented on gene: NR2F1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NODAL Natalie Chandler commented on gene: NODAL: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NMNAT1 Natalie Chandler commented on gene: NMNAT1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NKX2-6 Sunayna Best commented on gene: NKX2-6: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NFASC Natalie Bibb commented on gene: NFASC: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NEXN Sarah Graham commented on gene: NEXN: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NEUROD1 Soo-Mi Park commented on gene: NEUROD1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NEPRO Natalie Canham commented on gene: NEPRO: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NDUFB7 Vicki Harrison commented on gene: NDUFB7: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NAGS Elizabeth Wall commented on gene: NAGS: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 NAGLU Sarah Graham commented on gene: NAGLU: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MYL2 Vicki Harrison commented on gene: MYL2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MYH9 Natalie Chandler commented on gene: MYH9: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MSL2 Natalie Chandler commented on gene: MSL2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MPL Elizabeth Scotchman commented on gene: MPL: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MIA3 Sarah Graham commented on gene: MIA3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MET Stephanie Allen commented on gene: MET: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MED11 Soo-Mi Park commented on gene: MED11: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MAPK1 Sarah Graham commented on gene: MAPK1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MAP3K3 Alice Gardham commented on gene: MAP3K3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MAN2B2 Sarah Graham commented on gene: MAN2B2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 MAL Sahar Mansour commented on gene: MAL: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 LSS Natalie Chandler commented on gene: LSS: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 LRRC8C Vicki Harrison commented on gene: LRRC8C: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 LIPN Stephanie Allen commented on gene: LIPN: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 LGI3 Soo-Mi Park commented on gene: LGI3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 LDB1 Vicki Harrison commented on gene: LDB1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 LAGE3 Natalie Chandler commented on gene: LAGE3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 KMT2E Natalie Bibb commented on gene: KMT2E: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 C12orf66 Sahar Mansour commented on gene: C12orf66: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 KDM6B Sunayna Best commented on gene: KDM6B: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 KDM1A Esther Kinning commented on gene: KDM1A: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 KCNH2 Sahar Mansour commented on gene: KCNH2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 KCNB1 Soo-Mi Park commented on gene: KCNB1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 KBTBD2 Esther Kinning commented on gene: KBTBD2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 KAT7 Natalie Chandler commented on gene: KAT7: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 JPH1 Sarah Graham commented on gene: JPH1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ITGAV Natalie Canham commented on gene: ITGAV: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 IRF4 Natalie Chandler commented on gene: IRF4: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 IFT27 Sahar Mansour commented on gene: IFT27: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 HNRNPU Sarah Graham commented on gene: HNRNPU: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 HIRA Sarah Graham commented on gene: HIRA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 HECTD1 Sarah Graham commented on gene: HECTD1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 HDAC3 Sarah Graham commented on gene: HDAC3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GUK1 Esther Kinning commented on gene: GUK1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GTPBP1 Natalie Chandler commented on gene: GTPBP1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GNS Sarah Graham commented on gene: GNS: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GNPNAT1 Vicki Harrison commented on gene: GNPNAT1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GNAI2 Sarah Graham commented on gene: GNAI2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GEMIN4 Sahar Mansour commented on gene: GEMIN4: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GDAP1 Alice Gardham commented on gene: GDAP1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GATA5 Natalie Chandler commented on gene: GATA5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 GALT Sarah Graham commented on gene: GALT: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 G6PD Sarah Graham commented on gene: G6PD: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 FLVCR1 Natalie Canham commented on gene: FLVCR1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 FLII Sarah Graham commented on gene: FLII: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 FGG Natalie Canham commented on gene: FGG: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 FBXW11 Elizabeth Scotchman commented on gene: FBXW11: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 FBXO22 Natalie Bibb commented on gene: FBXO22: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 FAM177A1 Vicki Harrison commented on gene: FAM177A1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 EXOSC8 Sarah Graham commented on gene: EXOSC8: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 EXOC6B Natalie Bibb commented on gene: EXOC6B: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ERG Sunayna Best commented on gene: ERG: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 EFL1 Esther Kinning commented on gene: EFL1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 EEFSEC Natalie Chandler commented on gene: EEFSEC: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DVL2 Natalie Bibb commented on gene: DVL2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DTNA Natalie Bibb commented on gene: DTNA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DST Sarah Graham commented on gene: DST: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DSE Natalie Chandler commented on gene: DSE: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DSC2 Alice Gardham commented on gene: DSC2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DOHH Esther Kinning commented on gene: DOHH: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DNAJC21 Elizabeth Wall commented on gene: DNAJC21: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DHX9 Elizabeth Scotchman commented on gene: DHX9: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DHRSX Elizabeth Scotchman commented on gene: DHRSX: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DDX17 Elizabeth Scotchman commented on gene: DDX17: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 DAND5 Elizabeth Wall commented on gene: DAND5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CYP24A1 Natalie Chandler commented on gene: CYP24A1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 COQ2 Anna de Burca commented on gene: COQ2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 COMP Elizabeth Wall commented on gene: COMP: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 COL25A1 Sarah Graham commented on gene: COL25A1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 C1orf127 Elizabeth Scotchman commented on gene: C1orf127: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CHAF1A Elizabeth Wall commented on gene: CHAF1A: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CFI Esther Kinning commented on gene: CFI: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CELSR1 Sarah Graham commented on gene: CELSR1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CDK5 Sarah Graham commented on gene: CDK5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CCT8 Sarah Graham commented on gene: CCT8: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CCT6A Sarah Graham commented on gene: CCT6A: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CCT3 Natalie Canham commented on gene: CCT3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 CTGF Elizabeth Scotchman commented on gene: CTGF: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 BRD2 Natalie Canham commented on gene: BRD2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 BORCS8 Natalie Canham commented on gene: BORCS8: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 BICRA Natalie Chandler commented on gene: BICRA: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 BHLHE22 Sarah Graham commented on gene: BHLHE22: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 BAIAP2 Anna de Burca commented on gene: BAIAP2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ASCC3 Anna de Burca commented on gene: ASCC3: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ARPC5 Stephanie Allen commented on gene: ARPC5: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ARL6IP1 Alice Gardham commented on gene: ARL6IP1: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ARL2BP Vicki Harrison commented on gene: ARL2BP: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 AGT Esther Kinning commented on gene: AGT: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 AGRN Alice Gardham commented on gene: AGRN: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ACTN2 Natalie Chandler commented on gene: ACTN2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.28 ACO2 Natalie Chandler commented on gene: ACO2: This gene and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.27 DMPK_CTG Arina Puzriakova Tag Q3_25_expert_review was removed from STR: DMPK_CTG.
Fetal anomalies v6.27 DMPK_CTG Arina Puzriakova Classified STR: DMPK_CTG as Amber List (moderate evidence)
Fetal anomalies v6.27 DMPK_CTG Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to support the association with Myotonic dystrophy. This STR is Green on multiple GMS panels meaning that it has been approved by the NHS STR working group and can be promoted to Green on this panel at the next GMS panel update.
Fetal anomalies v6.27 DMPK_CTG Arina Puzriakova Str: dmpk_ctg has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.26 DMPK_CTG Arina Puzriakova Tag Q3_25_promote_green tag was added to STR: DMPK_CTG.
Tag Q3_25_expert_review tag was added to STR: DMPK_CTG.
Tag Q3_25_NHS_review tag was added to STR: DMPK_CTG.
Fetal anomalies v6.26 XYLT1_GCC Arina Puzriakova Classified STR: XYLT1_GCC as Red List (low evidence)
Fetal anomalies v6.26 XYLT1_GCC Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to support an association with Desbuquois dysplasia, however, this STR is currently not green on any panels as it has not been approved by the NHS STR working group and is not NGS validated. Therefore the Red rating will be maintained for now.
Fetal anomalies v6.26 XYLT1_GCC Arina Puzriakova Str: xylt1_gcc has been classified as Red List (Low Evidence).
Fetal anomalies v6.25 CNBP_CCTG Arina Puzriakova Classified STR: CNBP_CCTG as Red List (low evidence)
Fetal anomalies v6.25 CNBP_CCTG Arina Puzriakova Added comment: Comment on list classification: This STR was downgraded from Amber to Red inline with the Red review by the R21 Clinical Oversight Group.
Fetal anomalies v6.25 CNBP_CCTG Arina Puzriakova Str: cnbp_cctg has been classified as Red List (Low Evidence).
Fetal anomalies v6.24 DMPK_CTG Arina Puzriakova commented on STR: DMPK_CTG: This STR and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.24 XYLT1_GCC Arina Puzriakova commented on STR: XYLT1_GCC: This STR and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.24 CNBP_CCTG Arina Puzriakova commented on STR: CNBP_CCTG: This STR and phenotype were reviewed during meetings in June & July 2025. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Elizabeth Scotchman (North Thames GLH), Natalie Bibb, Stephanie Allen & Sarah Graham (Central & South GLH) and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Elizabeth Wall, Sunayna Best, Soo-Mi Park & Sahar Mansour (R21 Clinical Oversight Group).
Fetal anomalies v6.24 XYLT1_GCC Arina Puzriakova reviewed STR: XYLT1_GCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 22711505, 30554721; Phenotypes: Desbuquois dysplasia 2, OMIM:615777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 DMPK_CTG Arina Puzriakova edited their review of STR: DMPK_CTG: Added comment: Green expert review added on behalf of Sunayna Best (Leeds Teaching Hospitals NHS Trust), as part of a review of this panel by the R21 Clinical Oversight Group:

"Prenatal presentations of DM1 have been associated with nonspecific ultrasound findings such as clubbed foot, polyhydramnios, ventriculomegaly, and decreased fetal movement. Few published cases include prenatal neuroimaging findings, and ventriculomegaly has been described Shear et al, 2024: report expansion of the prenatal phenotype of DM1 with fetal SVT and frontal bossing with dilated subarachnoid spaces."; Changed rating: GREEN; Changed phenotypes to: Myotonic dystrophy 1; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 CNBP_CCTG Arina Puzriakova changed review comment from: Red expert review added on behalf of Alice Gardham (North West Thames Genetics), as part of a review of this panel by the R21 Clinical Oversight Group:

Myotonic dytrophy 2 - no fetal presentation.; to: Red expert review added on behalf of Alice Gardham (North West Thames Genetics), as part of a review of this panel by the R21 Clinical Oversight Group:

"Myotonic dytrophy 2 - no fetal presentation."
Fetal anomalies v6.24 CNBP_CCTG Arina Puzriakova edited their review of STR: CNBP_CCTG: Added comment: Red expert review added on behalf of Alice Gardham (North West Thames Genetics), as part of a review of this panel by the R21 Clinical Oversight Group:

Myotonic dytrophy 2 - no fetal presentation.; Changed rating: RED
Fetal anomalies v6.24 CDH11 Natalie Chandler reviewed gene: CDH11: Rating: AMBER; Mode of pathogenicity: ; Publications: 29271567, 33811546; Phenotypes: Elsahy-Waters syndrome; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.24 FAAP100 Sarah Graham reviewed gene: FAAP100: Rating: GREEN; Mode of pathogenicity: ; Publications: 40232843, 40244696; Phenotypes: Fanconi anemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 BORCS5 Sarah Graham reviewed gene: BORCS5: Rating: GREEN; Mode of pathogenicity: ; Publications: 40385417; Phenotypes: Arthrogryposis multiplex congenita, brain malformations; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 MAGED2 Sarah Graham reviewed gene: MAGED2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bartter syndrome, type 5, antenatal, transient; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.24 ZNRF3 Sarah Graham reviewed gene: ZNRF3: Rating: AMBER; Mode of pathogenicity: ; Publications: 39168120; Phenotypes: Complex neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 ZNHIT3 Sarah Graham reviewed gene: ZNHIT3: Rating: AMBER; Mode of pathogenicity: ; Publications: 39252897, 28335020; Phenotypes: PEHO syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ZNF808 Elizabeth Wall reviewed gene: ZNF808: Rating: RED; Mode of pathogenicity: ; Publications: 37973953, 37308312; Phenotypes: Pancreatic agenesis 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ZMYND11 Natalie Bibb reviewed gene: ZMYND11: Rating: AMBER; Mode of pathogenicity: ; Publications: 39521787; Phenotypes: Intellectual developmental disorder, autosomal dominant 30; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 ZEB1 Sarah Graham reviewed gene: ZEB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 37857482; Phenotypes: Anomalies of the corpus callosum; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 WDR47 Sarah Graham reviewed gene: WDR47: Rating: GREEN; Mode of pathogenicity: ; Publications: 39609633; Phenotypes: Complex neurodevelopmental disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 UNC50 Sarah Graham reviewed gene: UNC50: Rating: AMBER; Mode of pathogenicity: ; Publications: 33820833, 40219868, 29016857; Phenotypes: Arthrogryposis multiplex congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 UNC13D Anna de Burca reviewed gene: UNC13D: Rating: GREEN; Mode of pathogenicity: ; Publications: 33082562, 29262924, 21646258; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 TPM1 Alice Gardham reviewed gene: TPM1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33553264; Phenotypes: Left ventricular noncompaction 9; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 C14orf80 Sunayna Best reviewed gene: C14orf80: Rating: AMBER; Mode of pathogenicity: ; Publications: 39979680; Phenotypes: severe growth impairment and endocrine complications; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 TCP1 Natalie Bibb reviewed gene: TCP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39480921; Phenotypes: Intellectual developmental disorder with polymicrogyria and seizures; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 TCF20 Stephanie Allen reviewed gene: TCF20: Rating: AMBER; Mode of pathogenicity: ; Publications: 30819258, 40066675; Phenotypes: Developmental delay with variable intellectual impairment and behavioral abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 TAAR1 Sarah Graham reviewed gene: TAAR1: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Cerebellar vermis hypoplasia, cystic kidneys, polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SUPT7L Soo-Mi Park reviewed gene: SUPT7L: Rating: RED; Mode of pathogenicity: ; Publications: 38592547; Phenotypes: Fischer-Zirnsak progeroid syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 STXBP2 Alice Gardham reviewed gene: STXBP2: Rating: RED; Mode of pathogenicity: ; Publications: 38084697, 33593331; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 STX5 Sahar Mansour reviewed gene: STX5: Rating: GREEN; Mode of pathogenicity: ; Publications: 34711829; Phenotypes: Congenital disorder of glycosylation, type IIaa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 STX11 Vicki Harrison reviewed gene: STX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 4, OMIM:603552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SRPK3 Sarah Graham reviewed gene: SRPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 39073169; Phenotypes: X-linked intellectual developmental disorder-114; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.24 SRP54 Stephanie Allen reviewed gene: SRP54: Rating: AMBER; Mode of pathogenicity: ; Publications: 28972538, 29914977; Phenotypes: Neutropenia, severe congenital, 8, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 SPTA1 Sarah Graham reviewed gene: SPTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31333484, 34132406, 30198572, 38031483; Phenotypes: Hereditary pyropoikilocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SPOUT1 Sunayna Best reviewed gene: SPOUT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39962046; Phenotypes: Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SNAPC4 Esther Kinning reviewed gene: SNAPC4: Rating: AMBER; Mode of pathogenicity: ; Publications: 40186013; Phenotypes: Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SLC35A3 Sunayna Best reviewed gene: SLC35A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28777481, 24031089, 28328131, 33416188; Phenotypes: Arthrogryposis, mental retardation, and seizures, OMIM:615553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SLC30A5 Natalie Chandler reviewed gene: SLC30A5: Rating: AMBER; Mode of pathogenicity: ; Publications: 39790720, 12095919, 33547425; Phenotypes: Cardiomyopathy, hydrops fetalis, or cystic hygroma; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SLC19A1 Soo-Mi Park reviewed gene: SLC19A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32276275, 11266438, 36745868, 36517554; Phenotypes: Immunodeficiency 114, folate-responsive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SLC12A9 Sarah Graham reviewed gene: SLC12A9: Rating: GREEN; Mode of pathogenicity: ; Publications: 38334070; Phenotypes: SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SIRT6 Natalie Canham reviewed gene: SIRT6: Rating: AMBER; Mode of pathogenicity: ; Publications: 29555651, 30135584; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SENP7 Natalie Bibb reviewed gene: SENP7: Rating: GREEN; Mode of pathogenicity: ; Publications: 37460201, 39763084; Phenotypes: Fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 SEL1L Anna de Burca reviewed gene: SEL1L: Rating: AMBER; Mode of pathogenicity: ; Publications: 37943610, 37943617; Phenotypes: Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 RPL26 Elizabeth Wall reviewed gene: RPL26: Rating: GREEN; Mode of pathogenicity: ; Publications: 22431104, 39268718; Phenotypes: Diamond-Blackfan anaemia 11, OMIM:614900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 RNU5B-1 Natalie Chandler reviewed gene: RNU5B-1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40379786; Phenotypes: Neurodevelopmental disorder with seizures and joint laxity, OMIM:621302; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 RNU5A-1 Natalie Chandler reviewed gene: RNU5A-1: Rating: AMBER; Mode of pathogenicity: ; Publications: 40379786; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 RNF31 Natalie Chandler reviewed gene: RNF31: Rating: RED; Mode of pathogenicity: ; Publications: 30936877, 26008899; Phenotypes: Immunodeficiency 115 with autoinflammation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 RIPPLY2 Sahar Mansour reviewed gene: RIPPLY2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32212228, 33410135, 25343988, 26238661; Phenotypes: Spondylocostal dysostosis 6, OMIM:616566; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 RBFOX2 Anna de Burca reviewed gene: RBFOX2: Rating: AMBER; Mode of pathogenicity: ; Publications: 35137168, 27485310, 27670201, 26785492, 25205790, 37165897; Phenotypes: Congenital heart disease, MONDO:0005453; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 RAB11B Sahar Mansour reviewed gene: RAB11B: Rating: GREEN; Mode of pathogenicity: ; Publications: 39502218; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 PYGL Soo-Mi Park reviewed gene: PYGL: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Glycogen storage disease VI; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v6.24 PUS3 Elizabeth Scotchman reviewed gene: PUS3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27055666, 30697592, 31444731, 39891418, 30308082; Phenotypes: Neurodevelopmental disorder with microcephaly and gray sclerae; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PURA Natalie Canham reviewed gene: PURA: Rating: RED; Mode of pathogenicity: ; Publications: 39521787; Phenotypes: Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 PTEN Sunayna Best reviewed gene: PTEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 40261085; Phenotypes: Cowden syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 PSKH1 Sarah Graham reviewed gene: PSKH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39132680; Phenotypes: hepatorenal syndrome, MONDO:0001382; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PROC Elizabeth Wall reviewed gene: PROC: Rating: AMBER; Mode of pathogenicity: ; Publications: 39763161; Phenotypes: Thrombophilia 3 due to protein C deficiency, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PPFIBP1 Stephanie Allen reviewed gene: PPFIBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35830857, 37229200; Phenotypes: Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PPFIA3 Stephanie Allen reviewed gene: PPFIA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 38508193, 38181735, 37034625, 38723631; Phenotypes: Paul-Chao neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 POU3F3 Natalie Chandler reviewed gene: POU3F3: Rating: AMBER; Mode of pathogenicity: ; Publications: 37593446, 31303265; Phenotypes: Snijders Blok-Fisher syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 PLVAP Alice Gardham reviewed gene: PLVAP: Rating: AMBER; Mode of pathogenicity: ; Publications: 26207260, 29875123, 29661969, 31215290; Phenotypes: Diarrhoea 10, protein-losing enteropathy type, OMIM:618183; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PLAA Stephanie Allen reviewed gene: PLAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 38650658, 28413018, 28007986, 31322726; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, OMIM:617527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PIGW Sahar Mansour reviewed gene: PIGW: Rating: GREEN; Mode of pathogenicity: ; Publications: 40180615; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 11; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PIGQ Esther Kinning reviewed gene: PIGQ: Rating: AMBER; Mode of pathogenicity: ; Publications: 24463883, 31148362, 25558065, 32588908; Phenotypes: Multiple congenital anomalies-hypotonia-seizures syndrome 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PIGP Elizabeth Wall reviewed gene: PIGP: Rating: GREEN; Mode of pathogenicity: ; Publications: 32042915, 28334793, 31139695; Phenotypes: Developmental and epileptic encephalopathy 55; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PIGM Elizabeth Scotchman reviewed gene: PIGM: Rating: AMBER; Mode of pathogenicity: ; Publications: 25293775, 16767100; Phenotypes: Glycosylphosphatidylinositol deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PIGG Anna de Burca reviewed gene: PIGG: Rating: GREEN; Mode of pathogenicity: ; Publications: 34113002, 26996948; Phenotypes: Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PIGC Alice Gardham reviewed gene: PIGC: Rating: AMBER; Mode of pathogenicity: ; Publications: 32707268, 27694521; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 16; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PI4KA Anna de Burca reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PHF5A Vicki Harrison reviewed gene: PHF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 37422718, 33811463; Phenotypes: PHF5A-related neurodevelopmental disorder with congenital malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 PDE12 Alice Gardham reviewed gene: PDE12: Rating: AMBER; Mode of pathogenicity: ; Publications: 39567835; Phenotypes: Mitochondrial disease, MONDO:0044970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PDCD2 Soo-Mi Park reviewed gene: PDCD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 40208938; Phenotypes: hydrops fetalis and early pregnancy loss; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 PAK2 Sarah Graham reviewed gene: PAK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 40262506, 37808560, 39876536, 33693784, 38894571, 39994693; Phenotypes: Knobloch syndrome 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 PAICS Sunayna Best reviewed gene: PAICS: Rating: GREEN; Mode of pathogenicity: ; Publications: 31178128, 38179855, 3965093, 30758658; Phenotypes: Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 OSBPL9 Natalie Chandler reviewed gene: OSBPL9: Rating: RED; Mode of pathogenicity: ; Publications: 40182349; Phenotypes: Fetal Cerebral Ventriculomegaly, Cerebellar Hypoplasia, and Arthrogryposis Multiplex; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ODC1 Anna de Burca reviewed gene: ODC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40188065; Phenotypes: Bachmann-Bupp syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 NUP214 Stephanie Allen reviewed gene: NUP214: Rating: AMBER; Mode of pathogenicity: ; Publications: 31178128, 39650934, 30758658; Phenotypes: Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NT5E Natalie Chandler reviewed gene: NT5E: Rating: RED; Mode of pathogenicity: ; Publications: 26010187, 34999808, 26178434, 21288095, 32522903, 28825389, 27045881; Phenotypes: arterial calcification, joint calcification; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NR2F1 Soo-Mi Park reviewed gene: NR2F1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31318166, 32712214, 36221391, 32484994, 40066675; Phenotypes: Bosch-Boonstra-Schaaf optic atrophy syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v6.24 NODAL Natalie Chandler reviewed gene: NODAL: Rating: RED; Mode of pathogenicity: ; Publications: 19064609, 9354794; Phenotypes: Heterotaxy, visceral, 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 NMNAT1 Natalie Chandler reviewed gene: NMNAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NKX2-6 Sunayna Best reviewed gene: NKX2-6: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Conotruncal heart malformations, Persistent truncus arteriosus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NFASC Natalie Bibb reviewed gene: NFASC: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Neurodevelopmental disorder with central and peripheral motor dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NEXN Sarah Graham reviewed gene: NEXN: Rating: GREEN; Mode of pathogenicity: ; Publications: 33949776, 39183344, 35166435, 32058062; Phenotypes: Cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NEUROD1 Soo-Mi Park reviewed gene: NEUROD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26669242, 20573748, 10545951, 29521454, 26773576, 19609565; Phenotypes: Maturity-onset diabetes of the young 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v6.24 NEPRO Natalie Canham reviewed gene: NEPRO: Rating: GREEN; Mode of pathogenicity: ; Publications: 31250547, 29620724, 26633546, 37294112; Phenotypes: Anauxetic dysplasia 3, OMIM:618853; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NDUFB7 Vicki Harrison reviewed gene: NDUFB7: Rating: AMBER; Mode of pathogenicity: ; Publications: 33502047, 40025060; Phenotypes: Mitochondrial complex I deficiency, nuclear type 39; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NAGS Elizabeth Wall reviewed gene: NAGS: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: N-acetylglutamate synthase deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 NAGLU Sarah Graham reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: 40066675; Phenotypes: Mucopolysaccharidosis type IIIB (Sanfilippo B); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 MYL2 Vicki Harrison reviewed gene: MYL2: Rating: AMBER; Mode of pathogenicity: ; Publications: 39831482; Phenotypes: Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy, Cardiomyopathy, hypertrophic, 10; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.24 MYH9 Natalie Chandler reviewed gene: MYH9: Rating: RED; Mode of pathogenicity: ; Publications: 16969870, 31384440; Phenotypes: Deafness, autosomal dominant 17, Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 MSL2 Natalie Chandler reviewed gene: MSL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33057194, 38815585, 31332282; Phenotypes: Karayol-Borroto-Haghshenas neurodevelopmental syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 MPL Elizabeth Scotchman reviewed gene: MPL: Rating: AMBER; Mode of pathogenicity: ; Publications: 39763161; Phenotypes: Amegakaryocytic thrombocytopenia, congenital, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 MIA3 Sarah Graham reviewed gene: MIA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 32101163, 33778321, 40119123; Phenotypes: Odontochondrodysplasia-2 with hearing loss and diabetes; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 MET Stephanie Allen reviewed gene: MET: Rating: RED; Mode of pathogenicity: ; Publications: 30777867, 38429387; Phenotypes: ?Arthrogryposis, distal, type 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 MED11 Soo-Mi Park reviewed gene: MED11: Rating: GREEN; Mode of pathogenicity: ; Publications: 39578696, 36001086; Phenotypes: Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v6.24 MAPK1 Sarah Graham reviewed gene: MAPK1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 40257485, 32721402; Phenotypes: Noonan syndrome 13; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 MAP3K3 Alice Gardham reviewed gene: MAP3K3: Rating: RED; Mode of pathogenicity: ; Publications: 25728774; Phenotypes: Cerebral cavernous malformations 5; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 MAN2B2 Sarah Graham reviewed gene: MAN2B2: Rating: AMBER; Mode of pathogenicity: ; Publications: 38622837, 35637269, 31775018; Phenotypes: Congenital disorder of glycosylation type 1EE with or without immunodeficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 MAL Sahar Mansour reviewed gene: MAL: Rating: AMBER; Mode of pathogenicity: Other; Publications: 35217805; Phenotypes: ?Leukodystrophy, hypomyelinating, 28; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 LSS Natalie Chandler reviewed gene: LSS: Rating: GREEN; Mode of pathogenicity: ; Publications: 39359128; Phenotypes: Alopecia-intellectual disability syndrome 4, Cataract 44; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 LRRC8C Vicki Harrison reviewed gene: LRRC8C: Rating: AMBER; Mode of pathogenicity: ; Publications: 39623139; Phenotypes: TIMES syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 LIPN Stephanie Allen reviewed gene: LIPN: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Ichthyosis, congenital, autosomal recessive 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 LGI3 Soo-Mi Park reviewed gene: LGI3: Rating: GREEN; Mode of pathogenicity: ; Publications: 35948005; Phenotypes: Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, OMIM:620007; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v6.24 LDB1 Vicki Harrison reviewed gene: LDB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39680505; Phenotypes: Congenital hydrocephalus, MONDO:0016349; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 LAGE3 Natalie Chandler reviewed gene: LAGE3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28805828, 31069511, 36682911; Phenotypes: Galloway-Mowat syndrome 2, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v6.24 KMT2E Natalie Bibb reviewed gene: KMT2E: Rating: AMBER; Mode of pathogenicity: ; Publications: 40186013; Phenotypes: O'Donnell-Luria-Rodan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 C12orf66 Sahar Mansour reviewed gene: C12orf66: Rating: GREEN; Mode of pathogenicity: ; Publications: 39824192; Phenotypes: Intellectual developmental disorder, autosomal recessive 83; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 KDM6B Sunayna Best reviewed gene: KDM6B: Rating: AMBER; Mode of pathogenicity: ; Publications: 31124270, 37196654; Phenotypes: Stolerman neurodevelopmental syndrome, OMIM:618505; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 KDM1A Esther Kinning reviewed gene: KDM1A: Rating: AMBER; Mode of pathogenicity: ; Publications: 26656649, 24838796, 27094131; Phenotypes: Cleft palate, psychomotor retardation, and distinctive facial features; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 KCNH2 Sahar Mansour reviewed gene: KCNH2: Rating: AMBER; Mode of pathogenicity: ; Publications: 36973673, 39698424, 38094730; Phenotypes: Short QT syndrome 1, OMIM:609620, Long QT syndrome 2, OMIM:613688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 KCNB1 Soo-Mi Park reviewed gene: KCNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 36257979, 31513310, 39237446; Phenotypes: Developmental and epileptic encephalopathy 26; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Fetal anomalies v6.24 KBTBD2 Esther Kinning reviewed gene: KBTBD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 39313616; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 KAT7 Natalie Chandler reviewed gene: KAT7: Rating: RED; Mode of pathogenicity: ; Publications: 40186013; Phenotypes: Abnormal male external genitalia morphology, Tetralogy of Fallot; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 JPH1 Sarah Graham reviewed gene: JPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39209426; Phenotypes: Congenital myopathy-25; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ITGAV Natalie Canham reviewed gene: ITGAV: Rating: GREEN; Mode of pathogenicity: ; Publications: 39526957; Phenotypes: Syndromic disease, MONDO:0002254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 IRF4 Natalie Chandler reviewed gene: IRF4: Rating: RED; Mode of pathogenicity: ; Publications: 29537367, 36917008, 29408330, 36662884; Phenotypes: Immunodeficiency 131; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.24 IFT27 Sahar Mansour reviewed gene: IFT27: Rating: GREEN; Mode of pathogenicity: ; Publications: 25443296, 2970430, 24488770, 30761183, 37239474, 26763875; Phenotypes: Bardet-Biedl syndrome 19; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 HNRNPU Sarah Graham reviewed gene: HNRNPU: Rating: GREEN; Mode of pathogenicity: ; Publications: 39976380, 39965881, 39237446, 35138025; Phenotypes: Developmental and epileptic encephalopathy 54; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 HIRA Sarah Graham reviewed gene: HIRA: Rating: AMBER; Mode of pathogenicity: ; Publications: 38511226, 33417013; Phenotypes: Complex neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 HECTD1 Sarah Graham reviewed gene: HECTD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 37165897, 38451291, 39879987; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.24 HDAC3 Sarah Graham reviewed gene: HDAC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 39047730; Phenotypes: HDAC3-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 GUK1 Esther Kinning reviewed gene: GUK1: Rating: RED; Mode of pathogenicity: ; Publications: 39230499; Phenotypes: Mitochondrial DNA depletion syndrome 21; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 GTPBP1 Natalie Chandler reviewed gene: GTPBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 38118446; Phenotypes: Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, OMIM:620888; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 GNS Sarah Graham reviewed gene: GNS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucopolysaccharidosis type IIID, OMIM:252940; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 GNPNAT1 Vicki Harrison reviewed gene: GNPNAT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39945447; Phenotypes: Rhizomelic dysplasia, Ain-Naz type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 GNAI2 Sarah Graham reviewed gene: GNAI2: Rating: GREEN; Mode of pathogenicity: ; Publications: 39298586; Phenotypes: Syndromic developmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 GEMIN4 Sahar Mansour reviewed gene: GEMIN4: Rating: GREEN; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 GDAP1 Alice Gardham reviewed gene: GDAP1: Rating: RED; Mode of pathogenicity: ; Publications: 39945447; Phenotypes: Charcot-Marie-Tooth disease, type 4A; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 GATA5 Natalie Chandler reviewed gene: GATA5: Rating: AMBER; Mode of pathogenicity: ; Publications: 40076735; Phenotypes: Congenital heart defects, multiple types, 5; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.24 GALT Sarah Graham reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Galactosemia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 G6PD Sarah Graham reviewed gene: G6PD: Rating: AMBER; Mode of pathogenicity: ; Publications: 39041728; Phenotypes: Glucose-6-phosphate dehydrogenase 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)
Fetal anomalies v6.24 FLVCR1 Natalie Canham reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39306721; Phenotypes: Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 FLII Sarah Graham reviewed gene: FLII: Rating: AMBER; Mode of pathogenicity: ; Publications: 37561591, 32870709; Phenotypes: Cardiomyopathy, dilated, 2J; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 FGG Natalie Canham reviewed gene: FGG: Rating: RED; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Hypofibrinogenemia, congenital, Afibrinogenemia, congenital; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 FBXW11 Elizabeth Scotchman reviewed gene: FBXW11: Rating: AMBER; Mode of pathogenicity: ; Publications: 40188065, 31402090; Phenotypes: Neurodevelopmental, jaw, eye, and digital syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 FBXO22 Natalie Bibb reviewed gene: FBXO22: Rating: AMBER; Mode of pathogenicity: ; Publications: 40215970; Phenotypes: Tayoun-Maawali syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 FAM177A1 Vicki Harrison reviewed gene: FAM177A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 38767059, 25558065; Phenotypes: Neurodevelopmental disorder with white matter abnormalities and gait disturbance; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 EXOSC8 Sarah Graham reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: ; Publications: 34210538, 38017281, 24989451; Phenotypes: Pontocerebellar hypoplasia type 1C; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 EXOC6B Natalie Bibb reviewed gene: EXOC6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 30284759, 26669664, 36150098; Phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity, type 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ERG Sunayna Best reviewed gene: ERG: Rating: AMBER; Mode of pathogenicity: ; Publications: 36928819; Phenotypes: Lymphatic malformation 14; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 EFL1 Esther Kinning reviewed gene: EFL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31151987, 29970384, 34115847, 28331068; Phenotypes: Shwachman-Diamond syndrome 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 EEFSEC Natalie Chandler reviewed gene: EEFSEC: Rating: GREEN; Mode of pathogenicity: ; Publications: 39753114; Phenotypes: Neurodevelopmental disorder with progressive spasticity and brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 DVL2 Natalie Bibb reviewed gene: DVL2: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 35047859, 30521570, 33599851; Phenotypes: Robinow syndrome, MONDO:0019978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 DTNA Natalie Bibb reviewed gene: DTNA: Rating: RED; Mode of pathogenicity: ; Publications: 36799992; Phenotypes: Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 DST Sarah Graham reviewed gene: DST: Rating: GREEN; Mode of pathogenicity: ; Publications: 37431644; Phenotypes: Arthrogryposis multiplex congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 DSE Natalie Chandler reviewed gene: DSE: Rating: GREEN; Mode of pathogenicity: ; Publications: 31655143, 32130795, 25703627, 23704329; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 2; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 DSC2 Alice Gardham reviewed gene: DSC2: Rating: RED; Mode of pathogenicity: ; Publications: 40188065; Phenotypes: Arrhythmogenic right ventricular dysplasia, familial, 11; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.24 DOHH Esther Kinning reviewed gene: DOHH: Rating: AMBER; Mode of pathogenicity: ; Publications: 35858628; Phenotypes: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 DNAJC21 Elizabeth Wall reviewed gene: DNAJC21: Rating: AMBER; Mode of pathogenicity: ; Publications: 27346687, 28062395, 29700810; Phenotypes: Bone marrow failure syndrome 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 DHX9 Elizabeth Scotchman reviewed gene: DHX9: Rating: GREEN; Mode of pathogenicity: ; Publications: 37467750, 37369308; Phenotypes: Intellectual developmental disorder, autosomal dominant 75; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 DHRSX Elizabeth Scotchman reviewed gene: DHRSX: Rating: GREEN; Mode of pathogenicity: ; Publications: 38821050; Phenotypes: Congenital disorder of glycosylation, type 1DD, OMIM:301133; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 DDX17 Elizabeth Scotchman reviewed gene: DDX17: Rating: RED; Mode of pathogenicity: ; Publications: 39405200; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 DAND5 Elizabeth Wall reviewed gene: DAND5: Rating: AMBER; Mode of pathogenicity: ; Publications: 34215651, 36316122; Phenotypes: Heterotaxy, visceral, 13, autosomal; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 CYP24A1 Natalie Chandler reviewed gene: CYP24A1: Rating: RED; Mode of pathogenicity: ; Publications: 22337913, 28324001, 27105398, 34307984; Phenotypes: hypercalcaemia, nephrocalcinosis, cystic kidney disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 COQ2 Anna de Burca reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: ; Publications: 39763161; Phenotypes: Coenzyme Q10 deficiency, primary, 1; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 COMP Elizabeth Wall reviewed gene: COMP: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 40188065, 39521787; Phenotypes: Epiphyseal dysplasia, multiple, 1, Pseudoachondroplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 COL25A1 Sarah Graham reviewed gene: COL25A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 40158061; Phenotypes: Arthrogryposis multiplex congenita; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 C1orf127 Elizabeth Scotchman reviewed gene: C1orf127: Rating: GREEN; Mode of pathogenicity: ; Publications: 39753129; Phenotypes: Heterotaxy, visceral, 14, autosomal; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 CHAF1A Elizabeth Wall reviewed gene: CHAF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: 39333427; Phenotypes: Oculo-auriculo-vertebral spectrum; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 CFI Esther Kinning reviewed gene: CFI: Rating: AMBER; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Complement factor I deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 CELSR1 Sarah Graham reviewed gene: CELSR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 38272662; Phenotypes: Lymphatic malformation-9; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 CDK5 Sarah Graham reviewed gene: CDK5: Rating: GREEN; Mode of pathogenicity: ; Publications: 25560765, 40186457; Phenotypes: Lissencephaly 7 with cerebellar hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 CCT8 Sarah Graham reviewed gene: CCT8: Rating: AMBER; Mode of pathogenicity: ; Publications: 39480921; Phenotypes: CCT8-related neurodevelopmental disorder with brain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 CCT6A Sarah Graham reviewed gene: CCT6A: Rating: RED; Mode of pathogenicity: ; Publications: 39480921; Phenotypes: CCT6A-related neurodevelopmental disorder with or without brain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.24 CCT3 Natalie Canham reviewed gene: CCT3: Rating: AMBER; Mode of pathogenicity: ; Publications: 39480921; Phenotypes: Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 CTGF Elizabeth Scotchman reviewed gene: CTGF: Rating: GREEN; Mode of pathogenicity: ; Publications: 39506047, 39414788, 12736220; Phenotypes: Kyphomelic dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 BRD2 Natalie Canham reviewed gene: BRD2: Rating: RED; Mode of pathogenicity: ; Publications: 40186013; Phenotypes: Agenesis of corpus callosum; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 BORCS8 Natalie Canham reviewed gene: BORCS8: Rating: RED; Mode of pathogenicity: ; Publications: 38128568; Phenotypes: Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 BICRA Natalie Chandler reviewed gene: BICRA: Rating: AMBER; Mode of pathogenicity: ; Publications: 33232675; Phenotypes: Coffin-Siris syndrome 12; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 BHLHE22 Sarah Graham reviewed gene: BHLHE22: Rating: GREEN; Mode of pathogenicity: ; Publications: 39502664; Phenotypes: Complex neurodevelopmental disorder; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.24 BAIAP2 Anna de Burca reviewed gene: BAIAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 38149472; Phenotypes: Lissencephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 ASCC3 Anna de Burca reviewed gene: ASCC3: Rating: AMBER; Mode of pathogenicity: ; Publications: 21937992, 35047834; Phenotypes: Intellectual developmental disorder, autosomal recessive 81, OMIM:620700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ARPC5 Stephanie Allen reviewed gene: ARPC5: Rating: RED; Mode of pathogenicity: ; Publications: 37382373, 37349293; Phenotypes: Immunodeficiency 113 with autoimmunity and autoinflammation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ARL6IP1 Alice Gardham reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39954331; Phenotypes: Spastic paraplegia 61, autosomal recessive, OMIM:615685; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ARL2BP Vicki Harrison reviewed gene: ARL2BP: Rating: GREEN; Mode of pathogenicity: ; Publications: 36507858, 40384762, 38649918, 23849777, 27790702; Phenotypes: Situs Inversus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 AGT Esther Kinning reviewed gene: AGT: Rating: GREEN; Mode of pathogenicity: ; Publications: 39641285; Phenotypes: Renal tubular dysgenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 AGRN Alice Gardham reviewed gene: AGRN: Rating: GREEN; Mode of pathogenicity: ; Publications: 39807604; Phenotypes: Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.24 ACTN2 Natalie Chandler reviewed gene: ACTN2: Rating: RED; Mode of pathogenicity: ; Publications: 39521787; Phenotypes: Congenital myopathy 8, Cardiomyopathy, hypertrophic, 23, with or without LVNC, Cardiomyopathy, dilated, 1AA, with or without LVNC; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v6.24 ACO2 Natalie Chandler reviewed gene: ACO2: Rating: AMBER; Mode of pathogenicity: ; Publications: 39891418; Phenotypes: Infantile cerebellar-retinal degeneration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.23 CNBP_CCTG Arina Puzriakova Classified STR: CNBP_CCTG as Red List (low evidence)
Fetal anomalies v6.23 CNBP_CCTG Arina Puzriakova Str: cnbp_cctg has been classified as Red List (Low Evidence).
Fetal anomalies v6.22 XYLT1_GCC Arina Puzriakova Entity copied from Skeletal dysplasia v8.7
Fetal anomalies v6.22 XYLT1_GCC Arina Puzriakova STR: XYLT1_GCC was added
STR: XYLT1_GCC was added to Fetal anomalies. Sources: Literature
STR, NGS Not Validated tags were added to STR: XYLT1_GCC.
Mode of inheritance for STR: XYLT1_GCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for STR: XYLT1_GCC were set to 22711505; 30554721
Phenotypes for STR: XYLT1_GCC were set to Desbuquois dysplasia 2, OMIM:615777; Desbuquois dysplasia 2, MONDO:0014343
Fetal anomalies v6.21 CDH11 Arina Puzriakova gene: CDH11 was added
gene: CDH11 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CDH11 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CDH11 were set to 33811546; 29271567
Phenotypes for gene: CDH11 were set to Elsahy-Waters syndrome
Fetal anomalies v6.21 FAAP100 Arina Puzriakova gene: FAAP100 was added
gene: FAAP100 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: FAAP100 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAAP100 were set to 40244696; 40232843
Phenotypes for gene: FAAP100 were set to Fanconi anemia
Fetal anomalies v6.21 BORCS5 Arina Puzriakova gene: BORCS5 was added
gene: BORCS5 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: BORCS5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BORCS5 were set to 40385417
Phenotypes for gene: BORCS5 were set to Arthrogryposis multiplex congenita, brain malformations
Fetal anomalies v6.21 MAGED2 Arina Puzriakova gene: MAGED2 was added
gene: MAGED2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MAGED2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: MAGED2 were set to Bartter syndrome, type 5, antenatal, transient
Fetal anomalies v6.21 ZNRF3 Arina Puzriakova gene: ZNRF3 was added
gene: ZNRF3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ZNRF3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZNRF3 were set to 39168120
Phenotypes for gene: ZNRF3 were set to Complex neurodevelopmental disorder
Fetal anomalies v6.21 ZNHIT3 Arina Puzriakova Source Expert Review Amber was added to ZNHIT3.
Added phenotypes PEHO syndrome for gene: ZNHIT3
Publications for gene: ZNHIT3 were updated from 28335020; 31048081 to 39252897; 28335020; 31048081
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 ZNF808 Arina Puzriakova gene: ZNF808 was added
gene: ZNF808 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: ZNF808 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF808 were set to 37308312; 37973953
Phenotypes for gene: ZNF808 were set to Pancreatic agenesis 3
Fetal anomalies v6.21 ZMYND11 Arina Puzriakova Mode of inheritance for gene ZMYND11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder, autosomal dominant 30 for gene: ZMYND11
Publications for gene: ZMYND11 were updated from to 39521787
Fetal anomalies v6.21 ZEB1 Arina Puzriakova gene: ZEB1 was added
gene: ZEB1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ZEB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZEB1 were set to 37857482
Phenotypes for gene: ZEB1 were set to Anomalies of the corpus callosum
Fetal anomalies v6.21 WDR47 Arina Puzriakova gene: WDR47 was added
gene: WDR47 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: WDR47 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR47 were set to 39609633
Phenotypes for gene: WDR47 were set to Complex neurodevelopmental disorder
Fetal anomalies v6.21 UNC50 Arina Puzriakova gene: UNC50 was added
gene: UNC50 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: UNC50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC50 were set to 29016857; 40219868; 33820833
Phenotypes for gene: UNC50 were set to Arthrogryposis multiplex congenita
Fetal anomalies v6.21 UNC13D Arina Puzriakova Added phenotypes Hemophagocytic lymphohistiocytosis, familial, 3 for gene: UNC13D
Publications for gene: UNC13D were updated from 33082562; 33249554 to 21646258; 33249554; 29262924; 33082562
Fetal anomalies v6.21 TPM1 Arina Puzriakova gene: TPM1 was added
gene: TPM1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: TPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TPM1 were set to 33553264
Phenotypes for gene: TPM1 were set to Left ventricular noncompaction 9
Fetal anomalies v6.21 C14orf80 Arina Puzriakova gene: C14orf80 was added
gene: C14orf80 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: C14orf80 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C14orf80 were set to 39979680
Phenotypes for gene: C14orf80 were set to severe growth impairment and endocrine complications
Fetal anomalies v6.21 TCP1 Arina Puzriakova gene: TCP1 was added
gene: TCP1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: TCP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TCP1 were set to 39480921
Phenotypes for gene: TCP1 were set to Intellectual developmental disorder with polymicrogyria and seizures
Fetal anomalies v6.21 TCF20 Arina Puzriakova Mode of inheritance for gene TCF20 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Developmental delay with variable intellectual impairment and behavioral abnormalities for gene: TCF20
Publications for gene: TCF20 were updated from to 30819258; 40066675
Fetal anomalies v6.21 TAAR1 Arina Puzriakova gene: TAAR1 was added
gene: TAAR1 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: TAAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAAR1 were set to 39891418
Phenotypes for gene: TAAR1 were set to Cerebellar vermis hypoplasia, cystic kidneys, polydactyly
Fetal anomalies v6.21 SUPT7L Arina Puzriakova gene: SUPT7L was added
gene: SUPT7L was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: SUPT7L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SUPT7L were set to 38592547
Phenotypes for gene: SUPT7L were set to Fischer-Zirnsak progeroid syndrome
Fetal anomalies v6.21 STXBP2 Arina Puzriakova gene: STXBP2 was added
gene: STXBP2 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STXBP2 were set to 33593331; 38084697
Phenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5, with or without microvillus inclusion disease
Fetal anomalies v6.21 STX5 Arina Puzriakova Added phenotypes Congenital disorder of glycosylation, type IIaa for gene: STX5
Fetal anomalies v6.21 STX11 Arina Puzriakova gene: STX11 was added
gene: STX11 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STX11 were set to Haemophagocytic lymphohistiocytosis, familial, 4, OMIM:603552
Fetal anomalies v6.21 SRPK3 Arina Puzriakova gene: SRPK3 was added
gene: SRPK3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SRPK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SRPK3 were set to 39073169
Phenotypes for gene: SRPK3 were set to X-linked intellectual developmental disorder-114
Fetal anomalies v6.21 SRP54 Arina Puzriakova Mode of inheritance for gene SRP54 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Neutropenia, severe congenital, 8, autosomal dominant for gene: SRP54
Publications for gene: SRP54 were updated from to 28972538; 29914977
Fetal anomalies v6.21 SPTA1 Arina Puzriakova Source Expert Review Amber was added to SPTA1.
Mode of inheritance for gene SPTA1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hereditary pyropoikilocytosis for gene: SPTA1
Publications for gene: SPTA1 were updated from 31333484; 33082562; 34132406 to 34132406; 30198572; 38031483; 33082562; 31333484
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 SPOUT1 Arina Puzriakova gene: SPOUT1 was added
gene: SPOUT1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SPOUT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPOUT1 were set to 39962046
Phenotypes for gene: SPOUT1 were set to Neurodevelopmental disorder with poor growth, seizures, and brain abnormalities
Fetal anomalies v6.21 SNAPC4 Arina Puzriakova gene: SNAPC4 was added
gene: SNAPC4 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SNAPC4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNAPC4 were set to 40186013
Phenotypes for gene: SNAPC4 were set to Neurodevelopmental disorder with motor regression, progressive spastic paraplegia, and oromotor dysfunction
Fetal anomalies v6.21 SLC35A3 Arina Puzriakova gene: SLC35A3 was added
gene: SLC35A3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SLC35A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC35A3 were set to 28328131; 28777481; 24031089; 33416188
Phenotypes for gene: SLC35A3 were set to Arthrogryposis, mental retardation, and seizures, OMIM:615553
Fetal anomalies v6.21 SLC30A5 Arina Puzriakova gene: SLC30A5 was added
gene: SLC30A5 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SLC30A5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A5 were set to 33547425; 12095919; 39790720
Phenotypes for gene: SLC30A5 were set to Cardiomyopathy, hydrops fetalis, or cystic hygroma
Fetal anomalies v6.21 SLC19A1 Arina Puzriakova gene: SLC19A1 was added
gene: SLC19A1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SLC19A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC19A1 were set to 32276275; 36745868; 11266438; 36517554
Phenotypes for gene: SLC19A1 were set to Immunodeficiency 114, folate-responsive
Fetal anomalies v6.21 SLC12A9 Arina Puzriakova gene: SLC12A9 was added
gene: SLC12A9 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SLC12A9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC12A9 were set to 38334070
Phenotypes for gene: SLC12A9 were set to SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects
Fetal anomalies v6.21 SIRT6 Arina Puzriakova Added phenotypes Neurodevelopmental disorder, MONDO:0700092 for gene: SIRT6
Publications for gene: SIRT6 were updated from 29555651; 30135584 to 30135584; 29555651
Fetal anomalies v6.21 SENP7 Arina Puzriakova gene: SENP7 was added
gene: SENP7 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SENP7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SENP7 were set to 37460201; 39763084
Phenotypes for gene: SENP7 were set to Fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia
Fetal anomalies v6.21 SEL1L Arina Puzriakova gene: SEL1L was added
gene: SEL1L was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: SEL1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEL1L were set to 37943617; 37943610
Phenotypes for gene: SEL1L were set to Neurodevelopmental disorder with hypotonia, poor growth, dysmorphic facies, and agammaglobulinemia
Fetal anomalies v6.21 RPL26 Arina Puzriakova gene: RPL26 was added
gene: RPL26 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RPL26 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL26 were set to 22431104; 39268718
Phenotypes for gene: RPL26 were set to Diamond-Blackfan anaemia 11, OMIM:614900
Fetal anomalies v6.21 RNU5B-1 Arina Puzriakova gene: RNU5B-1 was added
gene: RNU5B-1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RNU5B-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNU5B-1 were set to 40379786
Phenotypes for gene: RNU5B-1 were set to Neurodevelopmental disorder with seizures and joint laxity, OMIM:621302
Fetal anomalies v6.21 RNU5A-1 Arina Puzriakova gene: RNU5A-1 was added
gene: RNU5A-1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RNU5A-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNU5A-1 were set to 40379786
Phenotypes for gene: RNU5A-1 were set to Neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v6.21 RNF31 Arina Puzriakova gene: RNF31 was added
gene: RNF31 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: RNF31 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNF31 were set to 26008899; 30936877
Phenotypes for gene: RNF31 were set to Immunodeficiency 115 with autoinflammation
Fetal anomalies v6.21 RIPPLY2 Arina Puzriakova gene: RIPPLY2 was added
gene: RIPPLY2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RIPPLY2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RIPPLY2 were set to 26238661; 25343988; 32212228; 33410135
Phenotypes for gene: RIPPLY2 were set to Spondylocostal dysostosis 6, OMIM:616566
Fetal anomalies v6.21 RBFOX2 Arina Puzriakova gene: RBFOX2 was added
gene: RBFOX2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: RBFOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBFOX2 were set to 27670201; 25205790; 37165897; 26785492; 27485310; 35137168
Phenotypes for gene: RBFOX2 were set to Congenital heart disease, MONDO:0005453
Fetal anomalies v6.21 RAB11B Arina Puzriakova Added phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter for gene: RAB11B
Publications for gene: RAB11B were updated from 29106825 to 39502218; 29106825
Fetal anomalies v6.21 PYGL Arina Puzriakova Added phenotypes Glycogen storage disease VI for gene: PYGL
Publications for gene: PYGL were updated from to 39891418
Fetal anomalies v6.21 PUS3 Arina Puzriakova gene: PUS3 was added
gene: PUS3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PUS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PUS3 were set to 31444731; 39891418; 30308082; 30697592; 27055666
Phenotypes for gene: PUS3 were set to Neurodevelopmental disorder with microcephaly and gray sclerae
Fetal anomalies v6.21 PURA Arina Puzriakova Mode of inheritance for gene PURA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Neurodevelopmental disorder with neonatal respiratory insufficiency, hypotonia, and feeding difficulties for gene: PURA
Publications for gene: PURA were updated from to 39521787
Fetal anomalies v6.21 PTEN Arina Puzriakova Source Expert Review Amber was added to PTEN.
Mode of inheritance for gene PTEN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Cowden syndrome 1 for gene: PTEN
Publications for gene: PTEN were updated from to 40261085
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 PSKH1 Arina Puzriakova gene: PSKH1 was added
gene: PSKH1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PSKH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSKH1 were set to 39132680
Phenotypes for gene: PSKH1 were set to hepatorenal syndrome, MONDO:0001382
Fetal anomalies v6.21 PROC Arina Puzriakova gene: PROC was added
gene: PROC was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PROC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PROC were set to 39763161
Phenotypes for gene: PROC were set to Thrombophilia 3 due to protein C deficiency, autosomal recessive
Fetal anomalies v6.21 PPFIBP1 Arina Puzriakova gene: PPFIBP1 was added
gene: PPFIBP1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PPFIBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPFIBP1 were set to 35830857; 37229200
Phenotypes for gene: PPFIBP1 were set to Neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
Fetal anomalies v6.21 PPFIA3 Arina Puzriakova gene: PPFIA3 was added
gene: PPFIA3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PPFIA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPFIA3 were set to 37034625; 38508193; 38723631; 38181735
Phenotypes for gene: PPFIA3 were set to Paul-Chao neurodevelopmental syndrome
Fetal anomalies v6.21 POU3F3 Arina Puzriakova gene: POU3F3 was added
gene: POU3F3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: POU3F3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: POU3F3 were set to 37593446; 31303265
Phenotypes for gene: POU3F3 were set to Snijders Blok-Fisher syndrome
Fetal anomalies v6.21 PLVAP Arina Puzriakova gene: PLVAP was added
gene: PLVAP was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PLVAP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PLVAP were set to 31215290; 29875123; 29661969; 26207260
Phenotypes for gene: PLVAP were set to Diarrhoea 10, protein-losing enteropathy type, OMIM:618183
Fetal anomalies v6.21 PLAA Arina Puzriakova Added phenotypes Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, OMIM:617527 for gene: PLAA
Publications for gene: PLAA were updated from 28007986; 28413018; 31322726 to 31322726; 38650658; 28413018; 28007986
Fetal anomalies v6.21 PIGW Arina Puzriakova gene: PIGW was added
gene: PIGW was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PIGW was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGW were set to 40180615
Phenotypes for gene: PIGW were set to Glycosylphosphatidylinositol biosynthesis defect 11
Fetal anomalies v6.21 PIGQ Arina Puzriakova gene: PIGQ was added
gene: PIGQ was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PIGQ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGQ were set to 24463883; 25558065; 31148362; 32588908
Phenotypes for gene: PIGQ were set to Multiple congenital anomalies-hypotonia-seizures syndrome 4
Fetal anomalies v6.21 PIGP Arina Puzriakova gene: PIGP was added
gene: PIGP was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PIGP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGP were set to 28334793; 32042915; 31139695
Phenotypes for gene: PIGP were set to Developmental and epileptic encephalopathy 55
Fetal anomalies v6.21 PIGM Arina Puzriakova gene: PIGM was added
gene: PIGM was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PIGM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGM were set to 25293775; 16767100
Phenotypes for gene: PIGM were set to Glycosylphosphatidylinositol deficiency
Fetal anomalies v6.21 PIGG Arina Puzriakova Added phenotypes Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy for gene: PIGG
Fetal anomalies v6.21 PIGC Arina Puzriakova gene: PIGC was added
gene: PIGC was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PIGC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGC were set to 32707268; 27694521
Phenotypes for gene: PIGC were set to Glycosylphosphatidylinositol biosynthesis defect 16
Fetal anomalies v6.21 PI4KA Arina Puzriakova Added phenotypes Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis for gene: PI4KA
Publications for gene: PI4KA were updated from 34415310 to 34415310; 39891418
Fetal anomalies v6.21 PHF5A Arina Puzriakova gene: PHF5A was added
gene: PHF5A was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PHF5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PHF5A were set to 33811463; 37422718
Phenotypes for gene: PHF5A were set to PHF5A-related neurodevelopmental disorder with congenital malformations
Fetal anomalies v6.21 PDE12 Arina Puzriakova Added phenotypes Mitochondrial disease, MONDO:0044970 for gene: PDE12
Fetal anomalies v6.21 PDCD2 Arina Puzriakova gene: PDCD2 was added
gene: PDCD2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PDCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDCD2 were set to 40208938
Phenotypes for gene: PDCD2 were set to hydrops fetalis and early pregnancy loss
Fetal anomalies v6.21 PAK2 Arina Puzriakova gene: PAK2 was added
gene: PAK2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: PAK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PAK2 were set to 39994693; 40262506; 33693784; 38894571; 37808560; 39876536
Phenotypes for gene: PAK2 were set to Knobloch syndrome 2
Fetal anomalies v6.21 PAICS Arina Puzriakova Added phenotypes Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426 for gene: PAICS
Publications for gene: PAICS were updated from 31600779 to 31178128; 31600779; 3965093; 38179855; 30758658
Fetal anomalies v6.21 OSBPL9 Arina Puzriakova gene: OSBPL9 was added
gene: OSBPL9 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: OSBPL9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OSBPL9 were set to 40182349
Phenotypes for gene: OSBPL9 were set to Fetal Cerebral Ventriculomegaly, Cerebellar Hypoplasia, and Arthrogryposis Multiplex
Fetal anomalies v6.21 ODC1 Arina Puzriakova gene: ODC1 was added
gene: ODC1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ODC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ODC1 were set to 40188065
Phenotypes for gene: ODC1 were set to Bachmann-Bupp syndrome
Fetal anomalies v6.21 NUP214 Arina Puzriakova Added phenotypes Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426 for gene: NUP214
Publications for gene: NUP214 were updated from 31178128; 38179855; 30758658; 3965093 to 31178128; 3965093; 38179855; 39650934; 30758658
Fetal anomalies v6.21 NT5E Arina Puzriakova gene: NT5E was added
gene: NT5E was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: NT5E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NT5E were set to 21288095; 32522903; 28825389; 26178434; 34999808; 27045881; 26010187
Phenotypes for gene: NT5E were set to arterial calcification; joint calcification
Fetal anomalies v6.21 NR2F1 Arina Puzriakova Source Expert Review Amber was added to NR2F1.
Mode of inheritance for gene NR2F1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Bosch-Boonstra-Schaaf optic atrophy syndrome for gene: NR2F1
Publications for gene: NR2F1 were updated from to 40066675; 32712214; 31318166; 36221391; 32484994
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 NODAL Arina Puzriakova Mode of inheritance for gene NODAL was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Heterotaxy, visceral, 5 for gene: NODAL
Publications for gene: NODAL were updated from to 9354794; 19064609
Fetal anomalies v6.21 NMNAT1 Arina Puzriakova Source Expert Review Amber was added to NMNAT1.
Added phenotypes Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis for gene: NMNAT1
Publications for gene: NMNAT1 were updated from to 39891418
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 NKX2-6 Arina Puzriakova Added phenotypes Conotruncal heart malformations; Persistent truncus arteriosus for gene: NKX2-6
Publications for gene: NKX2-6 were updated from 32198970; 15649947; 24421281; 25319568; 25380965 to 25319568; 15649947; 32198970; 39891418; 25380965; 24421281
Fetal anomalies v6.21 NFASC Arina Puzriakova gene: NFASC was added
gene: NFASC was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: NFASC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NFASC were set to 39891418
Phenotypes for gene: NFASC were set to Neurodevelopmental disorder with central and peripheral motor dysfunction
Fetal anomalies v6.21 NEXN Arina Puzriakova Mode of inheritance for gene NEXN was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cardiomyopathy for gene: NEXN
Publications for gene: NEXN were updated from 33947203; 32058062; 35166435; 33027564; 33949776 to 39183344; 33947203; 33949776; 33027564; 35166435; 32058062
Fetal anomalies v6.21 NEUROD1 Arina Puzriakova gene: NEUROD1 was added
gene: NEUROD1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: NEUROD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEUROD1 were set to 26773576; 10545951; 29521454; 26669242; 19609565; 20573748
Phenotypes for gene: NEUROD1 were set to Maturity-onset diabetes of the young 6
Fetal anomalies v6.21 NEPRO Arina Puzriakova gene: NEPRO was added
gene: NEPRO was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: NEPRO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NEPRO were set to 29620724; 31250547; 37294112; 26633546
Phenotypes for gene: NEPRO were set to Anauxetic dysplasia 3, OMIM:618853
Fetal anomalies v6.21 NDUFB7 Arina Puzriakova Added phenotypes Mitochondrial complex I deficiency, nuclear type 39 for gene: NDUFB7
Publications for gene: NDUFB7 were updated from 33502047; 27626371; 40025060 to 27626371; 40025060; 33502047
Fetal anomalies v6.21 NAGS Arina Puzriakova Added phenotypes N-acetylglutamate synthase deficiency for gene: NAGS
Publications for gene: NAGS were updated from to 39891418
Fetal anomalies v6.21 NAGLU Arina Puzriakova Added phenotypes Mucopolysaccharidosis type IIIB (Sanfilippo B) for gene: NAGLU
Publications for gene: NAGLU were updated from to 40066675
Fetal anomalies v6.21 MYL2 Arina Puzriakova gene: MYL2 was added
gene: MYL2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MYL2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: MYL2 were set to 39831482
Phenotypes for gene: MYL2 were set to Cardiomyopathy, hypertrophic, 10; Myopathy, myofibrillar, 12, infantile-onset, with cardiomyopathy
Fetal anomalies v6.21 MYH9 Arina Puzriakova Added phenotypes Deafness, autosomal dominant 17; Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss for gene: MYH9
Publications for gene: MYH9 were updated from to 16969870; 31384440
Fetal anomalies v6.21 MSL2 Arina Puzriakova gene: MSL2 was added
gene: MSL2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MSL2 were set to 38815585; 33057194; 31332282
Phenotypes for gene: MSL2 were set to Karayol-Borroto-Haghshenas neurodevelopmental syndrome
Fetal anomalies v6.21 MPL Arina Puzriakova gene: MPL was added
gene: MPL was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPL were set to 39763161
Phenotypes for gene: MPL were set to Amegakaryocytic thrombocytopenia, congenital, 1
Fetal anomalies v6.21 MIA3 Arina Puzriakova gene: MIA3 was added
gene: MIA3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MIA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIA3 were set to 32101163; 40119123; 33778321
Phenotypes for gene: MIA3 were set to Odontochondrodysplasia-2 with hearing loss and diabetes
Fetal anomalies v6.21 MET Arina Puzriakova gene: MET was added
gene: MET was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: MET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MET were set to 30777867; 38429387
Phenotypes for gene: MET were set to ?Arthrogryposis, distal, type 1
Fetal anomalies v6.21 MED11 Arina Puzriakova gene: MED11 was added
gene: MED11 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MED11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED11 were set to 36001086; 39578696
Phenotypes for gene: MED11 were set to Neurodegeneration with developmental delay, early respiratory failure, myoclonic seizures, and brain abnormalities
Fetal anomalies v6.21 MAPK1 Arina Puzriakova Mode of pathogenicity for gene MAPK1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Noonan syndrome 13 for gene: MAPK1
Publications for gene: MAPK1 were updated from 32721402 to 32721402; 40257485
Fetal anomalies v6.21 MAP3K3 Arina Puzriakova gene: MAP3K3 was added
gene: MAP3K3 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: MAP3K3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP3K3 were set to 25728774
Phenotypes for gene: MAP3K3 were set to Cerebral cavernous malformations 5
Fetal anomalies v6.21 MAN2B2 Arina Puzriakova gene: MAN2B2 was added
gene: MAN2B2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MAN2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2B2 were set to 35637269; 31775018; 38622837
Phenotypes for gene: MAN2B2 were set to Congenital disorder of glycosylation type 1EE with or without immunodeficiency
Fetal anomalies v6.21 MAL Arina Puzriakova gene: MAL was added
gene: MAL was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: MAL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAL were set to 35217805
Phenotypes for gene: MAL were set to ?Leukodystrophy, hypomyelinating, 28
Mode of pathogenicity for gene: MAL was set to Other
Fetal anomalies v6.21 LSS Arina Puzriakova gene: LSS was added
gene: LSS was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: LSS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSS were set to 39359128
Phenotypes for gene: LSS were set to Cataract 44; Alopecia-intellectual disability syndrome 4
Fetal anomalies v6.21 LRRC8C Arina Puzriakova gene: LRRC8C was added
gene: LRRC8C was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: LRRC8C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LRRC8C were set to 39623139
Phenotypes for gene: LRRC8C were set to TIMES syndrome
Fetal anomalies v6.21 LIPN Arina Puzriakova Added phenotypes Ichthyosis, congenital, autosomal recessive 8 for gene: LIPN
Publications for gene: LIPN were updated from 21439540 to 21439540; 39891418
Fetal anomalies v6.21 LGI3 Arina Puzriakova gene: LGI3 was added
gene: LGI3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: LGI3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LGI3 were set to 35948005
Phenotypes for gene: LGI3 were set to Intellectual developmental disorder with muscle tone abnormalities and distal skeletal defects, OMIM:620007
Fetal anomalies v6.21 LDB1 Arina Puzriakova gene: LDB1 was added
gene: LDB1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: LDB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: LDB1 were set to 39680505
Phenotypes for gene: LDB1 were set to Congenital hydrocephalus, MONDO:0016349
Fetal anomalies v6.21 LAGE3 Arina Puzriakova Added phenotypes Galloway-Mowat syndrome 2, X-linked for gene: LAGE3
Publications for gene: LAGE3 were updated from 31069511; 28805828 to 31069511; 28805828; 36682911
Fetal anomalies v6.21 KMT2E Arina Puzriakova Source Expert Review Amber was added to KMT2E.
Mode of inheritance for gene KMT2E was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes O'Donnell-Luria-Rodan syndrome for gene: KMT2E
Publications for gene: KMT2E were updated from to 40186013
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 C12orf66 Arina Puzriakova gene: C12orf66 was added
gene: C12orf66 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: C12orf66 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C12orf66 were set to 39824192
Phenotypes for gene: C12orf66 were set to Intellectual developmental disorder, autosomal recessive 83
Fetal anomalies v6.21 KDM6B Arina Puzriakova gene: KDM6B was added
gene: KDM6B was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: KDM6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM6B were set to 31124270; 37196654
Phenotypes for gene: KDM6B were set to Stolerman neurodevelopmental syndrome, OMIM:618505
Fetal anomalies v6.21 KDM1A Arina Puzriakova Added phenotypes Cleft palate, psychomotor retardation, and distinctive facial features for gene: KDM1A
Publications for gene: KDM1A were updated from 27094131; 24838796; 26656649 to 27094131; 24838796; 26656649
Fetal anomalies v6.21 KCNH2 Arina Puzriakova gene: KCNH2 was added
gene: KCNH2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: KCNH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNH2 were set to 36973673; 38094730; 39698424
Phenotypes for gene: KCNH2 were set to Short QT syndrome 1, OMIM:609620; Long QT syndrome 2, OMIM:613688
Fetal anomalies v6.21 KCNB1 Arina Puzriakova Source Expert Review Amber was added to KCNB1.
Mode of inheritance for gene KCNB1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Developmental and epileptic encephalopathy 26 for gene: KCNB1
Publications for gene: KCNB1 were updated from to 36257979; 39237446; 31513310
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 KBTBD2 Arina Puzriakova gene: KBTBD2 was added
gene: KBTBD2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: KBTBD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KBTBD2 were set to 39313616
Phenotypes for gene: KBTBD2 were set to Neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v6.21 KAT7 Arina Puzriakova gene: KAT7 was added
gene: KAT7 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: KAT7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KAT7 were set to 40186013
Phenotypes for gene: KAT7 were set to Abnormal male external genitalia morphology; Tetralogy of Fallot
Fetal anomalies v6.21 JPH1 Arina Puzriakova gene: JPH1 was added
gene: JPH1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: JPH1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: JPH1 were set to 39209426
Phenotypes for gene: JPH1 were set to Congenital myopathy-25
Fetal anomalies v6.21 ITGAV Arina Puzriakova Added phenotypes Syndromic disease, MONDO:0002254 for gene: ITGAV
Fetal anomalies v6.21 IRF4 Arina Puzriakova gene: IRF4 was added
gene: IRF4 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: IRF4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: IRF4 were set to 36917008; 36662884; 29537367; 29408330
Phenotypes for gene: IRF4 were set to Immunodeficiency 131
Fetal anomalies v6.21 IFT27 Arina Puzriakova Added phenotypes Bardet-Biedl syndrome 19 for gene: IFT27
Publications for gene: IFT27 were updated from 25443296; 24488770; 26763875; 30761183 to 25443296; 37239474; 24488770; 30761183; 26763875; 2970430
Fetal anomalies v6.21 HNRNPU Arina Puzriakova Source Expert Review Amber was added to HNRNPU.
Mode of inheritance for gene HNRNPU was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Developmental and epileptic encephalopathy 54 for gene: HNRNPU
Publications for gene: HNRNPU were updated from to 39237446; 39965881; 35138025; 39976380
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 HIRA Arina Puzriakova gene: HIRA was added
gene: HIRA was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: HIRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HIRA were set to 33417013; 38511226
Phenotypes for gene: HIRA were set to Complex neurodevelopmental disorder
Fetal anomalies v6.21 HECTD1 Arina Puzriakova gene: HECTD1 was added
gene: HECTD1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: HECTD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HECTD1 were set to 39879987; 38451291; 37165897
Phenotypes for gene: HECTD1 were set to Neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v6.21 HDAC3 Arina Puzriakova gene: HDAC3 was added
gene: HDAC3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: HDAC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HDAC3 were set to 39047730
Phenotypes for gene: HDAC3 were set to HDAC3-related neurodevelopmental disorder
Fetal anomalies v6.21 GUK1 Arina Puzriakova gene: GUK1 was added
gene: GUK1 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: GUK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GUK1 were set to 39230499
Phenotypes for gene: GUK1 were set to Mitochondrial DNA depletion syndrome 21
Fetal anomalies v6.21 GTPBP1 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, OMIM:620888 for gene: GTPBP1
Fetal anomalies v6.21 GNS Arina Puzriakova Added phenotypes Mucopolysaccharidosis type IIID, OMIM:252940 for gene: GNS
Fetal anomalies v6.21 GNPNAT1 Arina Puzriakova gene: GNPNAT1 was added
gene: GNPNAT1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: GNPNAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GNPNAT1 were set to 39945447
Phenotypes for gene: GNPNAT1 were set to Rhizomelic dysplasia, Ain-Naz type
Fetal anomalies v6.21 GNAI2 Arina Puzriakova gene: GNAI2 was added
gene: GNAI2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: GNAI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNAI2 were set to 39298586
Phenotypes for gene: GNAI2 were set to Syndromic developmental disorder
Fetal anomalies v6.21 GEMIN4 Arina Puzriakova gene: GEMIN4 was added
gene: GEMIN4 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: GEMIN4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GEMIN4 were set to 39891418
Phenotypes for gene: GEMIN4 were set to Neurodevelopmental disorder with microcephaly, cataracts, and renal abnormalities
Fetal anomalies v6.21 GDAP1 Arina Puzriakova gene: GDAP1 was added
gene: GDAP1 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: GDAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GDAP1 were set to 39945447
Phenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease, type 4A
Fetal anomalies v6.21 GATA5 Arina Puzriakova Mode of inheritance for gene GATA5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Congenital heart defects, multiple types, 5 for gene: GATA5
Publications for gene: GATA5 were updated from 33082562 to 40076735; 33082562
Fetal anomalies v6.21 GALT Arina Puzriakova Source Expert Review Amber was added to GALT.
Added phenotypes Galactosemia for gene: GALT
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 G6PD Arina Puzriakova Source Expert Review Amber was added to G6PD.
Added phenotypes Glucose-6-phosphate dehydrogenase deficiency for gene: G6PD
Publications for gene: G6PD were updated from 33082562 to 39041728; 33082562
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 FLVCR1 Arina Puzriakova Added phenotypes Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060 for gene: FLVCR1
Fetal anomalies v6.21 FLII Arina Puzriakova gene: FLII was added
gene: FLII was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: FLII was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FLII were set to 37561591; 32870709
Phenotypes for gene: FLII were set to Cardiomyopathy, dilated, 2J
Fetal anomalies v6.21 FGG Arina Puzriakova gene: FGG was added
gene: FGG was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: FGG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FGG were set to 39891418
Phenotypes for gene: FGG were set to Afibrinogenemia, congenital; Hypofibrinogenemia, congenital
Fetal anomalies v6.21 FBXW11 Arina Puzriakova Added phenotypes Neurodevelopmental, jaw, eye, and digital syndrome for gene: FBXW11
Publications for gene: FBXW11 were updated from 31402090 to 31402090; 40188065
Fetal anomalies v6.21 FBXO22 Arina Puzriakova gene: FBXO22 was added
gene: FBXO22 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: FBXO22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FBXO22 were set to 40215970
Phenotypes for gene: FBXO22 were set to Tayoun-Maawali syndrome
Fetal anomalies v6.21 FAM177A1 Arina Puzriakova gene: FAM177A1 was added
gene: FAM177A1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: FAM177A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM177A1 were set to 38767059; 25558065
Phenotypes for gene: FAM177A1 were set to Neurodevelopmental disorder with white matter abnormalities and gait disturbance
Fetal anomalies v6.21 EXOSC8 Arina Puzriakova Added phenotypes Pontocerebellar hypoplasia type 1C for gene: EXOSC8
Publications for gene: EXOSC8 were updated from 24989451; 34210538 to 38017281; 34210538; 24989451
Fetal anomalies v6.21 EXOC6B Arina Puzriakova gene: EXOC6B was added
gene: EXOC6B was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: EXOC6B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC6B were set to 30284759; 36150098; 26669664
Phenotypes for gene: EXOC6B were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 3
Fetal anomalies v6.21 ERG Arina Puzriakova gene: ERG was added
gene: ERG was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ERG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ERG were set to 36928819
Phenotypes for gene: ERG were set to Lymphatic malformation 14
Fetal anomalies v6.21 EFL1 Arina Puzriakova gene: EFL1 was added
gene: EFL1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: EFL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFL1 were set to 28331068; 31151987; 34115847; 29970384
Phenotypes for gene: EFL1 were set to Shwachman-Diamond syndrome 2
Fetal anomalies v6.21 EEFSEC Arina Puzriakova gene: EEFSEC was added
gene: EEFSEC was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: EEFSEC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EEFSEC were set to 39753114
Phenotypes for gene: EEFSEC were set to Neurodevelopmental disorder with progressive spasticity and brain abnormalities
Fetal anomalies v6.21 DVL2 Arina Puzriakova Mode of pathogenicity for gene DVL2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Robinow syndrome, MONDO:0019978 for gene: DVL2
Publications for gene: DVL2 were updated from 35047859; 33599851; 30521570 to 33599851; 30521570; 35047859
Fetal anomalies v6.21 DTNA Arina Puzriakova gene: DTNA was added
gene: DTNA was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: DTNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DTNA were set to 36799992
Phenotypes for gene: DTNA were set to Myopathy with myalgia, increased serum creatine kinase, and with or without episodic rhabdomyolysis 2
Fetal anomalies v6.21 DST Arina Puzriakova gene: DST was added
gene: DST was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DST were set to 37431644
Phenotypes for gene: DST were set to Arthrogryposis multiplex congenita
Fetal anomalies v6.21 DSE Arina Puzriakova gene: DSE was added
gene: DSE was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DSE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSE were set to 31655143; 25703627; 23704329; 32130795
Phenotypes for gene: DSE were set to Ehlers-Danlos syndrome, musculocontractural type 2
Fetal anomalies v6.21 DSC2 Arina Puzriakova gene: DSC2 was added
gene: DSC2 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: DSC2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: DSC2 were set to 40188065
Phenotypes for gene: DSC2 were set to Arrhythmogenic right ventricular dysplasia, familial, 11
Fetal anomalies v6.21 DOHH Arina Puzriakova Added phenotypes Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066 for gene: DOHH
Fetal anomalies v6.21 DNAJC21 Arina Puzriakova gene: DNAJC21 was added
gene: DNAJC21 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC21 were set to 29700810; 28062395; 27346687
Phenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3
Fetal anomalies v6.21 DHX9 Arina Puzriakova gene: DHX9 was added
gene: DHX9 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DHX9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DHX9 were set to 37369308; 37467750
Phenotypes for gene: DHX9 were set to Intellectual developmental disorder, autosomal dominant 75
Fetal anomalies v6.21 DHRSX Arina Puzriakova gene: DHRSX was added
gene: DHRSX was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DHRSX was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHRSX were set to 38821050
Phenotypes for gene: DHRSX were set to Congenital disorder of glycosylation, type 1DD, OMIM:301133
Fetal anomalies v6.21 DDX17 Arina Puzriakova gene: DDX17 was added
gene: DDX17 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: DDX17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DDX17 were set to 39405200
Phenotypes for gene: DDX17 were set to Neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v6.21 DAND5 Arina Puzriakova gene: DAND5 was added
gene: DAND5 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: DAND5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAND5 were set to 36316122; 34215651
Phenotypes for gene: DAND5 were set to Heterotaxy, visceral, 13, autosomal
Fetal anomalies v6.21 CYP24A1 Arina Puzriakova gene: CYP24A1 was added
gene: CYP24A1 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: CYP24A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP24A1 were set to 28324001; 34307984; 22337913; 27105398
Phenotypes for gene: CYP24A1 were set to cystic kidney disease; hypercalcaemia; nephrocalcinosis
Fetal anomalies v6.21 COQ2 Arina Puzriakova Source Expert Review Amber was added to COQ2.
Added phenotypes Coenzyme Q10 deficiency, primary, 1 for gene: COQ2
Publications for gene: COQ2 were updated from to 39763161
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 COMP Arina Puzriakova Source Expert Review Amber was added to COMP.
Mode of inheritance for gene COMP was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for gene COMP was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Pseudoachondroplasia; Epiphyseal dysplasia, multiple, 1 for gene: COMP
Publications for gene: COMP were updated from to 39521787; 40188065
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 COL25A1 Arina Puzriakova Source Expert Review Amber was added to COL25A1.
Added phenotypes Arthrogryposis multiplex congenita for gene: COL25A1
Publications for gene: COL25A1 were updated from 26437029; 35077597 to 26437029; 40158061; 35077597
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 C1orf127 Arina Puzriakova Added phenotypes Heterotaxy, visceral, 14, autosomal for gene: C1orf127
Fetal anomalies v6.21 CHAF1A Arina Puzriakova gene: CHAF1A was added
gene: CHAF1A was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CHAF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHAF1A were set to 39333427
Phenotypes for gene: CHAF1A were set to Oculo-auriculo-vertebral spectrum
Fetal anomalies v6.21 CFI Arina Puzriakova gene: CFI was added
gene: CFI was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CFI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFI were set to 39891418
Phenotypes for gene: CFI were set to Complement factor I deficiency
Fetal anomalies v6.21 CELSR1 Arina Puzriakova Added phenotypes Lymphatic malformation-9 for gene: CELSR1
Publications for gene: CELSR1 were updated from 26855770; 31215153; 31403174 to 38272662; 31403174; 26855770; 31215153
Fetal anomalies v6.21 CDK5 Arina Puzriakova gene: CDK5 was added
gene: CDK5 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CDK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK5 were set to 25560765; 40186457
Phenotypes for gene: CDK5 were set to Lissencephaly 7 with cerebellar hypoplasia
Fetal anomalies v6.21 CCT8 Arina Puzriakova gene: CCT8 was added
gene: CCT8 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CCT8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCT8 were set to 39480921
Phenotypes for gene: CCT8 were set to CCT8-related neurodevelopmental disorder with brain abnormalities
Fetal anomalies v6.21 CCT6A Arina Puzriakova gene: CCT6A was added
gene: CCT6A was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: CCT6A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCT6A were set to 39480921
Phenotypes for gene: CCT6A were set to CCT6A-related neurodevelopmental disorder with or without brain abnormalities
Fetal anomalies v6.21 CCT3 Arina Puzriakova gene: CCT3 was added
gene: CCT3 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CCT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CCT3 were set to 39480921
Phenotypes for gene: CCT3 were set to Neurodevelopmental disorder with speech or visual impairment and brain hypomyelination
Fetal anomalies v6.21 CTGF Arina Puzriakova gene: CTGF was added
gene: CTGF was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: CTGF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTGF were set to 39506047; 12736220; 39414788
Phenotypes for gene: CTGF were set to Kyphomelic dysplasia
Fetal anomalies v6.21 BRD2 Arina Puzriakova gene: BRD2 was added
gene: BRD2 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: BRD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRD2 were set to 40186013
Phenotypes for gene: BRD2 were set to Agenesis of corpus callosum
Fetal anomalies v6.21 BORCS8 Arina Puzriakova gene: BORCS8 was added
gene: BORCS8 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: BORCS8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BORCS8 were set to 38128568
Phenotypes for gene: BORCS8 were set to Neurodegeneration, infantile-onset, with optic atrophy and brain abnormalities
Fetal anomalies v6.21 BICRA Arina Puzriakova gene: BICRA was added
gene: BICRA was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: BICRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BICRA were set to 33232675
Phenotypes for gene: BICRA were set to Coffin-Siris syndrome 12
Fetal anomalies v6.21 BHLHE22 Arina Puzriakova gene: BHLHE22 was added
gene: BHLHE22 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: BHLHE22 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: BHLHE22 were set to 39502664
Phenotypes for gene: BHLHE22 were set to Complex neurodevelopmental disorder
Fetal anomalies v6.21 BAIAP2 Arina Puzriakova gene: BAIAP2 was added
gene: BAIAP2 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: BAIAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BAIAP2 were set to 38149472
Phenotypes for gene: BAIAP2 were set to Lissencephaly
Fetal anomalies v6.21 ASCC3 Arina Puzriakova Added phenotypes Intellectual developmental disorder, autosomal recessive 81, OMIM:620700 for gene: ASCC3
Fetal anomalies v6.21 ARPC5 Arina Puzriakova gene: ARPC5 was added
gene: ARPC5 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: ARPC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARPC5 were set to 37349293; 37382373
Phenotypes for gene: ARPC5 were set to Immunodeficiency 113 with autoimmunity and autoinflammation
Fetal anomalies v6.21 ARL6IP1 Arina Puzriakova gene: ARL6IP1 was added
gene: ARL6IP1 was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL6IP1 were set to 39954331
Phenotypes for gene: ARL6IP1 were set to Spastic paraplegia 61, autosomal recessive, OMIM:615685
Fetal anomalies v6.21 ARL2BP Arina Puzriakova gene: ARL2BP was added
gene: ARL2BP was added to Fetal anomalies. Sources: Expert Review Amber
Mode of inheritance for gene: ARL2BP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL2BP were set to 27790702; 36507858; 23849777; 38649918; 40384762
Phenotypes for gene: ARL2BP were set to Situs Inversus
Fetal anomalies v6.21 AGT Arina Puzriakova Added phenotypes Renal tubular dysgenesis for gene: AGT
Publications for gene: AGT were updated from 16116425; 28976722; 33163725; 34234805 to 34234805; 28976722; 16116425; 39641285; 33163725
Fetal anomalies v6.21 AGRN Arina Puzriakova Source Expert Review Amber was added to AGRN.
Added phenotypes Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects for gene: AGRN
Publications for gene: AGRN were updated from 31730230; 39807604 to 31730230; 39807604
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v6.21 ACTN2 Arina Puzriakova gene: ACTN2 was added
gene: ACTN2 was added to Fetal anomalies. Sources: Expert Review Red
Mode of inheritance for gene: ACTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACTN2 were set to 39521787
Phenotypes for gene: ACTN2 were set to Cardiomyopathy, hypertrophic, 23, with or without LVNC; Cardiomyopathy, dilated, 1AA, with or without LVNC; Congenital myopathy 8
Fetal anomalies v6.21 ACO2 Arina Puzriakova Added phenotypes Infantile cerebellar-retinal degeneration for gene: ACO2
Publications for gene: ACO2 were updated from 34056600 to 34056600; 39891418
Fetal anomalies v6.20 GNS Arina Puzriakova Phenotypes for gene: GNS were changed from MUCOPOLYSACCHARIDOSIS TYPE 3D to Mucopolysaccharidosis type IIID, OMIM:252940
Fetal anomalies v6.19 AGRN Arina Puzriakova Publications for gene: AGRN were set to 31730230
Fetal anomalies v6.18 AGRN Arina Puzriakova Phenotypes for gene: AGRN were changed from Fetal akinesia deformation sequence (FADS) to Fetal akinesia deformation sequence, MONDO:0008824
Fetal anomalies v6.17 EVC2 Ida Ertmanska changed review comment from: Comment on list classification: There are at least five unrelated families reported in literature with Weyers acrofacial dysostosis (rare skeletal dysplasia) and heterozygous variants in exon 22 of EVC2. While biallelic variants in EVC2 are associated with Ellis-van Creveld syndrome, Weyers acrofacial dysostosis is dominantly inherited. MOI should be changed from BIALLELIC to BOTH monoallelic and biallelic in the next GMS panel update.; to: Comment on mode of inheritance: There are at least five unrelated families reported in literature with Weyers acrofacial dysostosis (rare skeletal dysplasia) and heterozygous variants in exon 22 of EVC2. While biallelic variants in EVC2 are associated with Ellis-van Creveld syndrome, Weyers acrofacial dysostosis is dominantly inherited. MOI should be changed from BIALLELIC to BOTH monoallelic and biallelic in the next GMS panel update.
Fetal anomalies v6.17 EVC2 Ida Ertmanska commented on gene: EVC2: Comment on list classification: There are at least five unrelated families reported in literature with Weyers acrofacial dysostosis (rare skeletal dysplasia) and heterozygous variants in exon 22 of EVC2. While biallelic variants in EVC2 are associated with Ellis-van Creveld syndrome, Weyers acrofacial dysostosis is dominantly inherited. MOI should be changed from BIALLELIC to BOTH monoallelic and biallelic in the next GMS panel update.
Fetal anomalies v6.17 EVC2 Ida Ertmanska reviewed gene: EVC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38531627, 23220543, 19810119, 16404586; Phenotypes: Weyers acrofacial dysostosis, OMIM:193530, acrofacial dysostosis, Weyers type, MONDO:0008673; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v6.17 ACO2 Arina Puzriakova Added comment: Comment on mode of inheritance: Updated from 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' to 'BIALLELIC, autosomal or pseudoautosomal' as isolated optic atrophy caused by heterozygous variants in this gene is not relevant to the fetal panel. Extraocular features are rare in dominant cases (11%) and would also not be relevant to this panel (e.g. hearing loss, ataxia, nystagmus, metabolic dysfunction) (PMID: 34056600)
Fetal anomalies v6.17 ACO2 Arina Puzriakova Mode of inheritance for gene: ACO2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.16 ACO2 Arina Puzriakova Phenotypes for gene: ACO2 were changed from INFANTILE CEREBELLAR-RETINAL DEGENERATION to Infantile cerebellar-retinal degeneration, OMIM:614559
Fetal anomalies v6.15 LINC01082 Hannah Robinson gene: LINC01082 was added
gene: LINC01082 was added to Fetal anomalies. Sources: NHS GMS
Mode of inheritance for gene: LINC01082 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LINC01082 were set to PMID: 27071622; PMID: 27822317
Phenotypes for gene: LINC01082 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins
Penetrance for gene: LINC01082 were set to Complete
Review for gene: LINC01082 was set to GREEN
gene: LINC01082 was marked as current diagnostic
Added comment: LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer of FOXF1. Pathogenic variants in FOXF1 or deletions of its upstream enhancer region cause alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) (MIM265380). The majority of previously reported deletions of the upstream enhancer region have occurred de novo on the maternal allele.
Sources: NHS GMS
Fetal anomalies v6.15 LINC01081 Hannah Robinson gene: LINC01081 was added
gene: LINC01081 was added to Fetal anomalies. Sources: NHS GMS
Mode of inheritance for gene: LINC01081 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LINC01081 were set to PMID: 27071622; PMID: 27822317
Phenotypes for gene: LINC01081 were set to Alveolar capillary dysplasia with misalignment of pulmonary veins
Penetrance for gene: LINC01081 were set to Complete
Review for gene: LINC01081 was set to GREEN
gene: LINC01081 was marked as current diagnostic
Added comment: LINC01081 and LINC01082 are long non-coding RNA genes within a known upstream enhancer of FOXF1. Pathogenic variants in FOXF1 or deletions of its upstream enhancer region cause alveolar capillary dysplasia with misalignment of pulmonary veins (ACDMPV) (MIM265380). The majority of previously reported deletions of the upstream enhancer region have occurred de novo on the maternal allele.
Sources: NHS GMS
Fetal anomalies v6.15 PDE12 Achchuthan Shanmugasundram Classified gene: PDE12 as Amber List (moderate evidence)
Fetal anomalies v6.15 PDE12 Achchuthan Shanmugasundram Added comment: Comment on list classification: Of the three unrelated families reported with biallelic PDE12 variants, foetal anomalies were reported in two families. There is also functional and in silico evidence available. Hence, this gene can be promoted to green rating in the next GMS update.
Fetal anomalies v6.15 PDE12 Achchuthan Shanmugasundram Gene: pde12 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.14 PDE12 Achchuthan Shanmugasundram changed review comment from: PMID:39567835 (2025) reported five cases (three live-borns and two foetuses) from three unrelated families presenting with severe early-onset mitochondrial disease. They showed wide-ranging clinical presentations in utero and within the neonatal period, with muscle and brain involvement leading to marked cytochrome c oxidase (COX) deficiency in muscle and severe lactic acidosis.

In family 1, one of the two patients died at 3 months of age, while patient from family 2 died at day 2. Increased nuchal translucency, severe intra-uterine growth retardation, hydrops and cystic hygroma was noted in one of the two foetuses by prenatal ultrasound and the pregnancy ended spontaneously at 22 gestational weeks. Nuchal translucency and absence of foetal movements were observed in the other foetus, which was terminated at 19 weeks.

All three families harboured a different homozygous variant in PDE12 gene (p.Tyr155Cys, p.Gly372Glu & p.Arg41Pro) as identified by whole-exome sequencing. Based on the gnomAD database, all three missense variants were reported to be rare in general population.

Functional evidence from patient fibroblast studies showed reduced PDE12 protein and accumulation of abnormally polyadenylated mitochondrial tRNAs/rRNAs, causing disrupted mitochondrial RNA processing. In addition, in silico modeling of the variants also suggested loss of function.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature; to: PMID:39567835 (2025) reported five cases (three live-borns and two foetuses) from three unrelated families presenting with severe early-onset mitochondrial disease. They showed wide-ranging clinical presentations in utero and within the neonatal period, with muscle and brain involvement leading to marked cytochrome c oxidase (COX) deficiency in muscle and severe lactic acidosis.

Of these, the patient from family 2 (died on day 2 after birth), and the two foetuses from family 3 had foetal anomalies detected via prenatal ultrasound. The patient from family 2 had brain anomalies. Increased nuchal translucency, severe intra-uterine growth retardation, hydrops and cystic hygroma was noted in one of the two foetuses from family 3 and the pregnancy ended spontaneously at 22 gestational weeks. Nuchal translucency and absence of foetal movements were observed in the other foetus, which was terminated at 19 weeks.

All three families harboured a different homozygous variant in PDE12 gene (p.Tyr155Cys, p.Gly372Glu & p.Arg41Pro) as identified by whole-exome sequencing. Based on the gnomAD database, all three missense variants were reported to be rare in general population.

Functional evidence from patient fibroblast studies showed reduced PDE12 protein and accumulation of abnormally polyadenylated mitochondrial tRNAs/rRNAs, causing disrupted mitochondrial RNA processing. In addition, in silico modeling of the variants also suggested loss of function.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Fetal anomalies v6.14 PDE12 Achchuthan Shanmugasundram gene: PDE12 was added
gene: PDE12 was added to Fetal anomalies. Sources: Literature
Q3_25_promote_green tags were added to gene: PDE12.
Mode of inheritance for gene: PDE12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE12 were set to 39567835
Phenotypes for gene: PDE12 were set to mitochondrial disease, MONDO:0044970
Review for gene: PDE12 was set to GREEN
Added comment: PMID:39567835 (2025) reported five cases (three live-borns and two foetuses) from three unrelated families presenting with severe early-onset mitochondrial disease. They showed wide-ranging clinical presentations in utero and within the neonatal period, with muscle and brain involvement leading to marked cytochrome c oxidase (COX) deficiency in muscle and severe lactic acidosis.

In family 1, one of the two patients died at 3 months of age, while patient from family 2 died at day 2. Increased nuchal translucency, severe intra-uterine growth retardation, hydrops and cystic hygroma was noted in one of the two foetuses by prenatal ultrasound and the pregnancy ended spontaneously at 22 gestational weeks. Nuchal translucency and absence of foetal movements were observed in the other foetus, which was terminated at 19 weeks.

All three families harboured a different homozygous variant in PDE12 gene (p.Tyr155Cys, p.Gly372Glu & p.Arg41Pro) as identified by whole-exome sequencing. Based on the gnomAD database, all three missense variants were reported to be rare in general population.

Functional evidence from patient fibroblast studies showed reduced PDE12 protein and accumulation of abnormally polyadenylated mitochondrial tRNAs/rRNAs, causing disrupted mitochondrial RNA processing. In addition, in silico modeling of the variants also suggested loss of function.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Fetal anomalies v6.13 CDH1 Arina Puzriakova Phenotypes for gene: CDH1 were changed from Blepharo-cheiro-dontic syndrome to Blepharocheilodontic syndrome 1, OMIM:119580
Fetal anomalies v6.12 MYH3 Arina Puzriakova Phenotypes for gene: MYH3 were changed from DISTAL ARTHROGRYPOSIS TYPE 2B; DISTAL ARTHROGRYPOSIS TYPE 2A to Arthrogryposis, distal, type 2A (Freeman-Sheldon), OMIM:193700 (AD); Arthrogryposis, distal, type 2B3 (Sheldon-Hall), OMIM:618436 (AD); Contractures, pterygia, and spondylocarpostarsal fusion syndrome 1A, OMIM:178110 (AD); Contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B, OMIM:618469 (AR)
Fetal anomalies v6.11 MYH3 Arina Puzriakova Publications for gene: MYH3 were set to
Fetal anomalies v6.10 MYH3 Arina Puzriakova Added comment: Comment on mode of inheritance: MOI should be changed from 'MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown' to 'BOTH monoallelic and biallelic, autosomal or pseudoautosomal' at the next GMS panel update.

Monoallelic variants are associated with distal arthrogryposis conditions including Freeman-Sheldon syndrome and Sheldon-Hall syndrome.

Monoallelic and biallelic variants also underlie Contractures, Pterygia, and Spondylocarpotarsal Fusion syndromes (CPSFS) which are characterised by extensive bony abnormalities in addition to congenital contractures. These features could be detected prenatally and therefore are relevant to this panel.

At least 3 unrelated recessive CPSFS cases have been reported with multiple contractures (PMID: 29805041). Additionally, two sibs from one family have been reported with distal arthrogryposis without additional features of CPSFS, who harboured two homozygous ultra-rare MYH3 variants (PMID: 38856159). Their presentation was assessed in a prenatal diagnostic setting. Overall this evidence supports an MOI of 'both mono- and biallelic' on this panel.
Fetal anomalies v6.10 MYH3 Arina Puzriakova Mode of inheritance for gene: MYH3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v6.9 MYH3 Arina Puzriakova Tag Q3_25_MOI tag was added to gene: MYH3.
Fetal anomalies v6.9 GPKOW Eleanor Williams reviewed gene: GPKOW: Rating: GREEN; Mode of pathogenicity: None; Publications: 28612833, 40221893; Phenotypes: syndromic disease, MONDO:0002254; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v6.9 FLVCR1 Eleanor Williams Phenotypes for gene: FLVCR1 were changed from ATAXIA, POSTERIOR COLUMN, WITH RETINITIS PIGMENTOSA to Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060; neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126
Fetal anomalies v6.8 FLVCR1 Eleanor Williams Publications for gene: FLVCR1 were set to
Fetal anomalies v6.7 FLVCR1 Eleanor Williams Classified gene: FLVCR1 as Amber List (moderate evidence)
Fetal anomalies v6.7 FLVCR1 Eleanor Williams Added comment: Comment on list classification: Promoting this gene to amber with a recommendation for green rating following GMS review.
Fetal anomalies v6.7 FLVCR1 Eleanor Williams Gene: flvcr1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.6 FLVCR1 Eleanor Williams Tag Q3_25_promote_green tag was added to gene: FLVCR1.
Fetal anomalies v6.6 FLVCR1 Eleanor Williams reviewed gene: FLVCR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 39306721; Phenotypes: Neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, OMIM:621060, neurodevelopmental disorder with microcephaly, absent speech, and hypotonia, MONDO:0976126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.6 COL3A1 Arina Puzriakova Phenotypes for gene: COL3A1 were changed from HP:0002126; HP:0001883; HP:0006496 to Ehlers-Danlos syndrome, vascular type, OMIM:130050; Polymicrogyria with or without vascular-type EDS, OMIM:618343
Fetal anomalies v6.5 SYNGAP1 Arina Puzriakova Phenotypes for gene: SYNGAP1 were changed from EPILEPTIC ENCEPHALOPATHY; MENTAL RETARDATION AUTOSOMAL DOMINANT TYPE 5 to Intellectual developmental disorder, autosomal dominant 5, OMIM:612621
Fetal anomalies v6.4 C1orf127 Arina Puzriakova commented on gene: C1orf127: Added new-gene-name tag, new approved HGNC gene symbol for C1orf127 is CIROZ
Fetal anomalies v6.4 C1orf127 Arina Puzriakova Tag new-gene-name tag was added to gene: C1orf127.
Fetal anomalies v6.4 C1orf127 Arina Puzriakova Classified gene: C1orf127 as Amber List (moderate evidence)
Fetal anomalies v6.4 C1orf127 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.
Fetal anomalies v6.4 C1orf127 Arina Puzriakova Gene: c1orf127 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v6.3 C1orf127 Arina Puzriakova Tag Q2_25_ promote_green tag was added to gene: C1orf127.
Tag Q2_25_ NHS_review tag was added to gene: C1orf127.
Fetal anomalies v6.3 C1orf127 Arina Puzriakova reviewed gene: C1orf127: Rating: GREEN; Mode of pathogenicity: None; Publications: 39753129; Phenotypes: Heterotaxy, visceral, 14, autosomal, OMIM:621080; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v6.3 C1orf127 Arina Puzriakova Phenotypes for gene: C1orf127 were changed from Heterotaxy to Heterotaxy, visceral, 14, autosomal, OMIM:621080
Fetal anomalies v6.2 NEU1 Arina Puzriakova Phenotypes for gene: NEU1 were changed from SIALIDOSIS to Sialidosis, type I, OMIM:256550; Sialidosis, type II, OMIM:256550
Fetal anomalies v6.1 Sarah Leigh Panel version 6.0 has been signed off on 2025-04-30
Fetal anomalies v6.0 Sarah Leigh promoted panel to version 6.0
Fetal anomalies v5.98 GAS8 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: GAS8.
Fetal anomalies v5.98 GAS8 Achchuthan Shanmugasundram commented on gene: GAS8
Fetal anomalies v5.98 CCDC65 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: CCDC65.
Fetal anomalies v5.98 CCDC65 Achchuthan Shanmugasundram commented on gene: CCDC65
Fetal anomalies v5.98 ZSCAN10 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: ZSCAN10.
Fetal anomalies v5.98 DISP1 Achchuthan Shanmugasundram Tag gene-checked was removed from gene: DISP1.
Fetal anomalies v5.98 DISP1 Achchuthan Shanmugasundram Phenotypes for gene: DISP1 were changed from Holoprosencephaly 10, OMIM:62114 to Holoprosencephaly 10, OMIM:621143
Fetal anomalies v5.97 DISP1 Achchuthan Shanmugasundram Tag watchlist was removed from gene: DISP1.
Fetal anomalies v5.97 DISP1 Achchuthan Shanmugasundram Phenotypes for gene: DISP1 were changed from Holoprosencephaly to Holoprosencephaly 10, OMIM:62114
Fetal anomalies v5.96 C1orf127 Julia Baptista gene: C1orf127 was added
gene: C1orf127 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: C1orf127 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C1orf127 were set to 39753129
Phenotypes for gene: C1orf127 were set to Heterotaxy
Review for gene: C1orf127 was set to GREEN
Added comment: OMIM entry now available for this gene and condition.
The HGNC approved gene name is CIROZ

Sixteen individuals from 10 independently ascertained families with Left-right anomalies with or without Congenital Heart Defects, consistent with Heterotaxy. Family 1 is of European ancestry, and families 9 and 10 are from Central America, while all remaining families were of Middle Eastern background and known to be consanguineous.

Of these 16 affected individuals, three were affected fetuses subjected to termination of pregnancy, and two died in the first year of life due to complex cardiac phenotypes.
Sources: Literature
Fetal anomalies v5.96 GPKOW Sarah Leigh reviewed gene: GPKOW: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v5.96 GPKOW Sarah Leigh Phenotypes for gene: GPKOW were changed from male-lethal microcephaly with intrauterine growth restriction to microcephaly with intrauterine growth restriction
Fetal anomalies v5.95 GPKOW Sarah Leigh Tag Q2_25_ promote_green tag was added to gene: GPKOW.
Fetal anomalies v5.95 GPKOW Sarah Leigh Mode of inheritance for gene: GPKOW 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)
Fetal anomalies v5.94 GPKOW Sarah Leigh Publications for gene: GPKOW were set to 28612833
Fetal anomalies v5.93 SIRT6 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are four foetuses from a single family and several pieces of functional evidence available in support of the association. This gene is tagged for expert review from the Genomic Laboratory Hubs to decide whether the available evidence is sufficient for promotion to green rating on the next update.; to: Comment on list classification: There are four foetuses from a single family and several pieces of functional evidence available in support of the association. This gene is tagged for expert review from the NHS Genomic Medicine Service to decide whether the available evidence is sufficient for promotion to green rating on the next update.
Fetal anomalies v5.93 SIRT6 Achchuthan Shanmugasundram Classified gene: SIRT6 as Amber List (moderate evidence)
Fetal anomalies v5.93 SIRT6 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four foetuses from a single family and several pieces of functional evidence available in support of the association. This gene is tagged for expert review from the Genomic Laboratory Hubs to decide whether the available evidence is sufficient for promotion to green rating on the next update.
Fetal anomalies v5.93 SIRT6 Achchuthan Shanmugasundram Gene: sirt6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v5.92 SIRT6 Achchuthan Shanmugasundram Tag Q2_25_ promote_green tag was added to gene: SIRT6.
Tag Q2_25_expert_review tag was added to gene: SIRT6.
Fetal anomalies v5.92 SIRT6 Achchuthan Shanmugasundram Phenotypes for gene: SIRT6 were changed from PMID: 29555651 to Fetal anomaly, HP:0034057
Fetal anomalies v5.91 SIRT6 Achchuthan Shanmugasundram Publications for gene: SIRT6 were set to
Fetal anomalies v5.90 SIRT6 Achchuthan Shanmugasundram reviewed gene: SIRT6: Rating: GREEN; Mode of pathogenicity: None; Publications: 29555651, 30135584; Phenotypes: Fetal anomaly, HP:0034057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.90 LMNB2 Sarah Leigh Tag Q2_25_ MOI tag was added to gene: LMNB2.
Tag Q2_25_ NHS_review tag was added to gene: LMNB2.
Fetal anomalies v5.90 LMNB2 Sarah Leigh changed review comment from: PMID: 40011009 reports two related babies who were homozygous for a loss-of-function LMNB2 variant. Both babies shared a similar phenotype of severe brain development abnormalities and died during the perinatal period. This shared phenotype was reflected in the several Lmnb2-deficient mouse models.
Material from the patient’s fibroblasts (obtained at birth) were used in Western blot and immunofluorescence cell labelling, and confirmed the complete absence of lamin B2 and revealed an increase in lamin B1, together with alterations in alpha-tubulin and vimentin organisation. (PMID: 40011009).; to: PMID: 40011009 reports two related babies who were homozygous for a loss-of-function LMNB2 variant. Both babies shared a similar phenotype of severe brain development abnormalities and died during the perinatal period. This shared phenotype was reflected in several Lmnb2-deficient mouse models.
Material from the patient’s fibroblasts (obtained at birth) were used in Western blot and immunofluorescence cell labelling, and confirmed the complete absence of lamin B2 and revealed an increase in lamin B1, together with alterations in alpha-tubulin and vimentin organisation. (PMID: 40011009).
Fetal anomalies v5.90 LMNB2 Sarah Leigh reviewed gene: LMNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.90 LMNB2 Sarah Leigh Phenotypes for gene: LMNB2 were changed from Microcephaly 27, primary, autosomal dominant, OMIM:619180 to Microcephaly 27, primary, autosomal dominant, OMIM:619180; microcephaly 27, primary, autosomal dominant, MONDO:0030929
Fetal anomalies v5.89 LMNB2 Sarah Leigh Publications for gene: LMNB2 were set to 33033404
Fetal anomalies v5.88 SCN4A Sarah Leigh Tag Q2_25_ MOI tag was added to gene: SCN4A.
Tag Q2_25_expert_review tag was added to gene: SCN4A.
Fetal anomalies v5.88 SCN4A Sarah Leigh reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.88 SCN4A Sarah Leigh Phenotypes for gene: SCN4A were changed from PARAMYOTONIA CONGENITA OF VON EULENBURG; HYPERKALEMIC PERIODIC PARALYSIS TYPE 1; HYPOKALEMIC PERIODIC PARALYSIS to Classic congenital myopathy-22A, OMIM:620351; congenital myopathy 22A, classic,MONDO:0957247:Severe fetal congenital myopathy-22B, OMIM:620369; congenital myopathy 22B, severe fetal, MONDO:0957265
Fetal anomalies v5.87 LMNB2 Sarah Graham reviewed gene: LMNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 40011009; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v5.87 AL117258.1 Achchuthan Shanmugasundram changed review comment from: The 'new-gene-name' tag has been added as the HGNC approved symbol for this gene is CIROP.; to: The 'new-gene-name' tag has been added as the HGNC approved symbol for this gene is CIROP. This gene was known by the previous symbol LMLN2.
Fetal anomalies v5.87 VIPAS39 Arina Puzriakova Phenotypes for gene: VIPAS39 were changed from ARTHROGRYPOSIS, RENAL DYSFUNCTION, AND CHOLESTASIS 2 to Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404; ARC syndrome
Fetal anomalies v5.86 DET1 Sarah Leigh Added comment: Comment on publications: PMID: 39937864 was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Fetal anomalies v5.86 DET1 Sarah Leigh Publications for gene: DET1 were set to 39937864
Fetal anomalies v5.85 DET1 Sarah Leigh gene: DET1 was added
gene: DET1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: DET1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DET1 were set to 39937864
Phenotypes for gene: DET1 were set to neurological defects and lethality
Review for gene: DET1 was set to RED
Added comment: PMID: 39937864 reports a family where the three affected siblings were homozygous for a variant in DET1 (c.76C>T, p.R26W) and also for a variant in COMMD4 (c.122T>G; p.L41R). These genes are both on chromosome 15, separated by 13 Mb and are likely to co-segregate. The parents of these cases were healthy, heterozygous carriers of the DET1 p.R26W variant. The cases described developed lethal developmental abnormalities and the longest lived sib died at 8 months old. Extensive functional studies were reported in PMID: 39937864 and using Det1-
deficient mice and human-induced pluripotent stem cells (iPSCs) expressing DET1R26W,
the authors were able to show that DET1 is essential for normal neuronal development.
Sources: Literature
Fetal anomalies v5.84 NDUFB7 Arina Puzriakova Tag Q1_25_ expert_review tag was added to gene: NDUFB7.
Fetal anomalies v5.84 NDUFB7 Arina Puzriakova changed review comment from: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.

Although only two unrelated cases have been reported to date (PMID: 33502047, 40025060) there is strong functional data and an animal model that support the association. The existence of a therapeutic strategy further supports timely inclusion of this gene on a diagnostic panel.; to: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update but this will be flagged for expert review prior to inclusion.

Although only two unrelated cases have been reported to date (PMID: 33502047, 40025060) there is strong functional data and an animal model that support the association. The existence of a therapeutic strategy further supports timely inclusion of this gene on a diagnostic panel.
Fetal anomalies v5.84 NDUFB7 Arina Puzriakova edited their review of gene: NDUFB7: Changed publications to: 40025060; Changed phenotypes to: Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.84 NDUFB7 Arina Puzriakova edited their review of gene: NDUFB7: Changed rating: GREEN
Fetal anomalies v5.84 NDUFB7 Arina Puzriakova Classified gene: NDUFB7 as Amber List (moderate evidence)
Fetal anomalies v5.84 NDUFB7 Arina Puzriakova Added comment: Comment on list classification: There is sufficient evidence to promote this gene to Green at the next GMS panel update.

Although only two unrelated cases have been reported to date (PMID: 33502047, 40025060) there is strong functional data and an animal model that support the association. The existence of a therapeutic strategy further supports timely inclusion of this gene on a diagnostic panel.
Fetal anomalies v5.84 NDUFB7 Arina Puzriakova Gene: ndufb7 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v5.83 NDUFB7 Arina Puzriakova commented on gene: NDUFB7
Fetal anomalies v5.83 NDUFB7 Arina Puzriakova Tag Q1_25_ promote_green tag was added to gene: NDUFB7.
Fetal anomalies v5.83 NDUFB7 Arina Puzriakova Phenotypes for gene: NDUFB7 were changed from ?Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135 to Mitochondrial complex I deficiency, nuclear type 39, OMIM:620135
Fetal anomalies v5.82 NDUFB7 Arina Puzriakova Publications for gene: NDUFB7 were set to 33502047
Fetal anomalies v5.81 SPR Arina Puzriakova Phenotypes for gene: SPR were changed from DOPA-RESPONSIVE DYSTONIA DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716
Fetal anomalies v5.80 EFCAB1 Eleanor Williams changed review comment from: Added new-gene-name tag, new approved HGNC gene symbol forEFCAB1 is CLXN; to: Added new-gene-name tag, new approved HGNC gene symbol for EFCAB1 is CLXN
Fetal anomalies v5.80 EFCAB1 Eleanor Williams commented on gene: EFCAB1
Fetal anomalies v5.80 CCDC115 Eleanor Williams commented on gene: CCDC115
Fetal anomalies v5.80 CCDC115 Eleanor Williams Tag new-gene-name tag was added to gene: CCDC115.
Fetal anomalies v5.80 USP14 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: USP14.
Fetal anomalies v5.80 TSHZ3 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TSHZ3.
Fetal anomalies v5.80 PAN2 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: PAN2.
Fetal anomalies v5.80 MYBBP1A Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: MYBBP1A.
Fetal anomalies v5.80 MAP4K4 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: MAP4K4.
Fetal anomalies v5.80 KIF5B Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: KIF5B.
Fetal anomalies v5.80 KIF24 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: KIF24.
Fetal anomalies v5.80 KDM2B Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: KDM2B.
Fetal anomalies v5.80 GON4L Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: GON4L.
Fetal anomalies v5.80 CBY1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CBY1.
Fetal anomalies v5.80 AMOTL1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: AMOTL1.
Fetal anomalies v5.80 WDR44 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: WDR44.
Fetal anomalies v5.80 RNU4-2 Achchuthan Shanmugasundram Tag locus-type-rna-small-nuclear tag was added to gene: RNU4-2.
Tag gene-checked tag was added to gene: RNU4-2.
Fetal anomalies v5.80 PSMF1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: PSMF1.
Fetal anomalies v5.80 HECTD4 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: HECTD4.
Fetal anomalies v5.80 EFCAB1 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: EFCAB1.
Fetal anomalies v5.80 EFCAB1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: EFCAB1.
Fetal anomalies v5.80 DAW1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: DAW1.
Fetal anomalies v5.80 C16orf62 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: C16orf62.
Fetal anomalies v5.80 AL117258.1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: AL117258.1.
Fetal anomalies v5.80 HYAL2 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has now been associated with relevant phenotypes in OMIM (MIM #621063).
Fetal anomalies v5.80 HYAL2 Achchuthan Shanmugasundram Phenotypes for gene: HYAL2 were changed from congenital cardiac malformations; Cleft lip and palate; cor triatriatum to Muggenthaler-Chowdhury-Chioza syndrome, OMIM:621063
Fetal anomalies v5.79 HYAL2 Achchuthan Shanmugasundram Tag gene-checked was removed from gene: HYAL2.
Fetal anomalies v5.79 CNBP_CCTG Achchuthan Shanmugasundram commented on STR: CNBP_CCTG: The repeated sequence of this STR has been updated from 'CAGG' to 'CCTG' to match the sequence on the coding strand of the gene. This update was made following NHS Genomic Medicine Service approval.
Fetal anomalies v5.79 CNBP_CCTG Achchuthan Shanmugasundram Repeated Sequence for CNBP_CCTG was changed from CAGG to CCTG.
Fetal anomalies v5.78 ESAM Achchuthan Shanmugasundram Tag Q4_23_promote_green was removed from gene: ESAM.
Tag Q4_23_NHS_review was removed from gene: ESAM.
Fetal anomalies v5.78 CNBP_CCTG Achchuthan Shanmugasundram Tag Q1_24_promote_green was removed from STR: CNBP_CCTG.
Fetal anomalies v5.78 CNBP_CCTG Achchuthan Shanmugasundram edited their review of STR: CNBP_CCTG: Changed rating: AMBER
Fetal anomalies v5.78 CNBP_CCTG Achchuthan Shanmugasundram commented on STR: CNBP_CCTG
Fetal anomalies v5.78 KIF26A Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: KIF26A.
Tag Q1_25_ promote_green was removed from gene: KIF26A.
Fetal anomalies v5.78 DAW1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: DAW1.
Tag Q1_25_ promote_green was removed from gene: DAW1.
Fetal anomalies v5.78 ZRSR2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ZRSR2.
Tag Q1_25_ promote_green was removed from gene: ZRSR2.
Fetal anomalies v5.78 ZFX Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ZFX.
Tag Q1_25_ promote_green was removed from gene: ZFX.
Fetal anomalies v5.78 WDR44 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: WDR44.
Tag Q1_25_ promote_green was removed from gene: WDR44.
Fetal anomalies v5.78 WBP4 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: WBP4.
Tag Q1_25_ promote_green was removed from gene: WBP4.
Fetal anomalies v5.78 WASHC5 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: WASHC5.
Tag Q1_25_ promote_green was removed from gene: WASHC5.
Fetal anomalies v5.78 USP14 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: USP14.
Fetal anomalies v5.78 UFSP2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: UFSP2.
Tag Q1_25_ promote_green was removed from gene: UFSP2.
Fetal anomalies v5.78 U2AF2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: U2AF2.
Tag Q1_25_ promote_green was removed from gene: U2AF2.
Fetal anomalies v5.78 TSHZ3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: TSHZ3.
Tag Q1_25_ promote_green was removed from gene: TSHZ3.
Fetal anomalies v5.78 TRIT1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: TRIT1.
Tag Q1_25_ promote_green was removed from gene: TRIT1.
Fetal anomalies v5.78 TONSL Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: TONSL.
Tag Q1_25_ promote_green was removed from gene: TONSL.
Fetal anomalies v5.78 TOGARAM1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: TOGARAM1.
Tag Q1_25_ promote_green was removed from gene: TOGARAM1.
Fetal anomalies v5.78 THSD1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: THSD1.
Tag Q1_25_ promote_green was removed from gene: THSD1.
Fetal anomalies v5.78 TBR1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: TBR1.
Tag Q1_25_ promote_green was removed from gene: TBR1.
Fetal anomalies v5.78 TAF8 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: TAF8.
Tag Q1_25_ promote_green was removed from gene: TAF8.
Fetal anomalies v5.78 SNF8 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: SNF8.
Tag Q1_23_promote_green was removed from gene: SNF8.
Fetal anomalies v5.78 SNAP25 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: SNAP25.
Tag Q1_25_ promote_green was removed from gene: SNAP25.
Fetal anomalies v5.78 SMPD1 Achchuthan Shanmugasundram Tag Q1_25_ demote_amber was removed from gene: SMPD1.
Tag Q1_25_ NHS_review was removed from gene: SMPD1.
Fetal anomalies v5.78 SLC4A10 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: SLC4A10.
Tag Q1_25_ promote_green was removed from gene: SLC4A10.
Fetal anomalies v5.78 SLC34A1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: SLC34A1.
Tag Q1_25_ promote_green was removed from gene: SLC34A1.
Fetal anomalies v5.78 SLC25A4 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: SLC25A4.
Tag Q1_25_ promote_green was removed from gene: SLC25A4.
Fetal anomalies v5.78 SETD1A Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: SETD1A.
Tag Q1_25_ promote_green was removed from gene: SETD1A.
Fetal anomalies v5.78 SCYL2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: SCYL2.
Tag Q1_25_ promote_green was removed from gene: SCYL2.
Fetal anomalies v5.78 SASS6 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: SASS6.
Tag Q1_25_ promote_green was removed from gene: SASS6.
Fetal anomalies v5.78 RSPRY1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: RSPRY1.
Tag Q1_25_ promote_green was removed from gene: RSPRY1.
Fetal anomalies v5.78 RSPO2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: RSPO2.
Tag Q1_25_ promote_green was removed from gene: RSPO2.
Fetal anomalies v5.78 RRAS Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: RRAS.
Tag Q1_25_ promote_green was removed from gene: RRAS.
Fetal anomalies v5.78 RRAGC Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: RRAGC.
Tag Q1_25_ promote_green was removed from gene: RRAGC.
Fetal anomalies v5.78 RPL13 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: RPL13.
Tag Q1_25_ promote_green was removed from gene: RPL13.
Fetal anomalies v5.78 ROBO1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ROBO1.
Tag Q1_24_MOI was removed from gene: ROBO1.
Fetal anomalies v5.78 RNU4-2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: RNU4-2.
Tag Q1_25_ promote_green was removed from gene: RNU4-2.
Fetal anomalies v5.78 RFWD3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: RFWD3.
Tag Q1_25_ promote_green was removed from gene: RFWD3.
Fetal anomalies v5.78 RAP1B Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: RAP1B.
Tag Q1_25_ promote_green was removed from gene: RAP1B.
Fetal anomalies v5.78 RAB34 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: RAB34.
Tag Q1_25_ promote_green was removed from gene: RAB34.
Fetal anomalies v5.78 PUM1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PUM1.
Tag Q1_25_ promote_green was removed from gene: PUM1.
Fetal anomalies v5.78 PSMF1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PSMF1.
Tag Q1_25_ promote_green was removed from gene: PSMF1.
Fetal anomalies v5.78 PLS3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PLS3.
Tag Q1_25_ promote_green was removed from gene: PLS3.
Fetal anomalies v5.78 PLD1 Achchuthan Shanmugasundram Tag Q1_25_ demote_amber was removed from gene: PLD1.
Tag Q1_25_ NHS_review was removed from gene: PLD1.
Tag Q2_24_expert_review was removed from gene: PLD1.
Fetal anomalies v5.78 PKDCC Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PKDCC.
Tag Q1_25_ promote_green was removed from gene: PKDCC.
Fetal anomalies v5.78 PIP5K1C Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PIP5K1C.
Tag Q1_25_ promote_green was removed from gene: PIP5K1C.
Fetal anomalies v5.78 PIGS Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PIGS.
Tag Q1_25_ promote_green was removed from gene: PIGS.
Fetal anomalies v5.78 PI4K2A Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PI4K2A.
Tag Q1_25_ promote_green was removed from gene: PI4K2A.
Fetal anomalies v5.78 PAN2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: PAN2.
Tag Q1_25_ promote_green was removed from gene: PAN2.
Fetal anomalies v5.78 NUDT2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: NUDT2.
Tag Q1_25_ promote_green was removed from gene: NUDT2.
Fetal anomalies v5.78 NSUN6 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: NSUN6.
Tag Q1_25_ promote_green was removed from gene: NSUN6.
Fetal anomalies v5.78 NLRP3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: NLRP3.
Tag Q1_25_ promote_green was removed from gene: NLRP3.
Fetal anomalies v5.78 MYBBP1A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MYBBP1A.
Tag Q3_24_NHS_review was removed from gene: MYBBP1A.
Fetal anomalies v5.78 MSTO1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: MSTO1.
Tag Q1_24_MOI was removed from gene: MSTO1.
Fetal anomalies v5.78 MDFIC Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: MDFIC.
Tag Q2_24_promote_green was removed from gene: MDFIC.
Fetal anomalies v5.78 MAX Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: MAX.
Tag Q1_25_ promote_green was removed from gene: MAX.
Fetal anomalies v5.78 MAP4K4 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: MAP4K4.
Tag Q1_25_ promote_green was removed from gene: MAP4K4.
Fetal anomalies v5.78 LOX Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: LOX.
Tag Q1_25_ promote_green was removed from gene: LOX.
Fetal anomalies v5.78 LNPK Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: LNPK.
Tag Q1_25_ promote_green was removed from gene: LNPK.
Fetal anomalies v5.78 LIPT2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: LIPT2.
Tag Q1_25_ promote_green was removed from gene: LIPT2.
Fetal anomalies v5.78 LAMB2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: LAMB2.
Tag Q1_25_ promote_green was removed from gene: LAMB2.
Fetal anomalies v5.78 LAMA5 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: LAMA5.
Tag Q1_25_ promote_green was removed from gene: LAMA5.
Fetal anomalies v5.78 KMT2B Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: KMT2B.
Tag Q1_25_ promote_green was removed from gene: KMT2B.
Fetal anomalies v5.78 KIF5B Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: KIF5B.
Tag Q1_25_ promote_green was removed from gene: KIF5B.
Fetal anomalies v5.78 KIF24 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: KIF24.
Tag Q1_25_ promote_green was removed from gene: KIF24.
Fetal anomalies v5.78 KDM2B Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: KDM2B.
Tag Q1_25_ promote_green was removed from gene: KDM2B.
Fetal anomalies v5.78 KDELR2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: KDELR2.
Tag Q1_25_ promote_green was removed from gene: KDELR2.
Fetal anomalies v5.78 KCNK9 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: KCNK9.
Tag Q2_24_NHS_review was removed from gene: KCNK9.
Fetal anomalies v5.78 KCNK3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: KCNK3.
Tag Q1_25_ promote_green was removed from gene: KCNK3.
Fetal anomalies v5.78 INTS11 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: INTS11.
Tag Q1_25_ promote_green was removed from gene: INTS11.
Fetal anomalies v5.78 HECTD4 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: HECTD4.
Tag Q1_25_ promote_green was removed from gene: HECTD4.
Fetal anomalies v5.78 GON4L Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: GON4L.
Tag Q1_25_ promote_green was removed from gene: GON4L.
Fetal anomalies v5.78 GNB2 Achchuthan Shanmugasundram Tag Q2_24_promote_green was removed from gene: GNB2.
Tag Q2_24_NHS_review was removed from gene: GNB2.
Fetal anomalies v5.78 FUZ Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: FUZ.
Tag Q1_25_ promote_green was removed from gene: FUZ.
Fetal anomalies v5.78 FTO Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: FTO.
Tag Q1_25_ promote_green was removed from gene: FTO.
Fetal anomalies v5.78 FOXP4 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: FOXP4.
Tag Q1_25_ promote_green was removed from gene: FOXP4.
Fetal anomalies v5.78 FOSL2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: FOSL2.
Tag Q1_25_ promote_green was removed from gene: FOSL2.
Fetal anomalies v5.78 FN1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: FN1.
Tag Q1_25_ promote_green was removed from gene: FN1.
Fetal anomalies v5.78 FILIP1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: FILIP1.
Tag Q1_25_ promote_green was removed from gene: FILIP1.
Fetal anomalies v5.78 FAS Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: FAS.
Tag Q1_25_ promote_green was removed from gene: FAS.
Fetal anomalies v5.78 ERI1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ERI1.
Tag Q1_25_ promote_green was removed from gene: ERI1.
Fetal anomalies v5.78 ENG Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ENG.
Tag Q1_25_ promote_green was removed from gene: ENG.
Fetal anomalies v5.78 EMG1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: EMG1.
Tag Q1_23_promote_green was removed from gene: EMG1.
Fetal anomalies v5.78 EFCAB1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: EFCAB1.
Tag Q1_25_ promote_green was removed from gene: EFCAB1.
Fetal anomalies v5.78 DRG1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: DRG1.
Tag Q1_25_ promote_green was removed from gene: DRG1.
Fetal anomalies v5.78 DPYSL5 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: DPYSL5.
Tag Q1_25_ promote_green was removed from gene: DPYSL5.
Fetal anomalies v5.78 DLG5 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: DLG5.
Tag Q1_25_ promote_green was removed from gene: DLG5.
Fetal anomalies v5.78 DHX30 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: DHX30.
Tag Q1_25_ promote_green was removed from gene: DHX30.
Fetal anomalies v5.78 DDRGK1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: DDRGK1.
Tag Q1_25_ promote_green was removed from gene: DDRGK1.
Fetal anomalies v5.78 CSGALNACT1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: CSGALNACT1.
Tag Q1_25_ promote_green was removed from gene: CSGALNACT1.
Fetal anomalies v5.78 CNOT2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: CNOT2.
Tag Q1_25_ promote_green was removed from gene: CNOT2.
Fetal anomalies v5.78 CEP295 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: CEP295.
Tag Q1_25_ promote_green was removed from gene: CEP295.
Fetal anomalies v5.78 CDK10 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: CDK10.
Tag Q1_25_ promote_green was removed from gene: CDK10.
Fetal anomalies v5.78 CDH2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: CDH2.
Tag Q1_25_ promote_green was removed from gene: CDH2.
Fetal anomalies v5.78 CBY1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: CBY1.
Tag Q1_25_ promote_green was removed from gene: CBY1.
Fetal anomalies v5.78 CASP2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: CASP2.
Tag Q1_25_ promote_green was removed from gene: CASP2.
Fetal anomalies v5.78 CACNA1S Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: CACNA1S.
Tag Q1_25_ promote_green was removed from gene: CACNA1S.
Fetal anomalies v5.78 C16orf62 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: C16orf62.
Tag Q1_25_ promote_green was removed from gene: C16orf62.
Fetal anomalies v5.78 ATG7 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ATG7.
Tag Q1_25_ promote_green was removed from gene: ATG7.
Fetal anomalies v5.78 ASXL3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ASXL3.
Tag Q1_25_ promote_green was removed from gene: ASXL3.
Fetal anomalies v5.78 AMOTL1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: AMOTL1.
Tag Q1_25_ promote_green was removed from gene: AMOTL1.
Fetal anomalies v5.78 AL117258.1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: AL117258.1.
Tag Q1_25_ promote_green was removed from gene: AL117258.1.
Fetal anomalies v5.78 ADD1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ADD1.
Tag Q1_25_ promote_green was removed from gene: ADD1.
Fetal anomalies v5.78 ADAMTS15 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ADAMTS15.
Tag Q1_25_ promote_green was removed from gene: ADAMTS15.
Fetal anomalies v5.78 ACBD6 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review was removed from gene: ACBD6.
Tag Q1_25_ promote_green was removed from gene: ACBD6.
Fetal anomalies v5.78 ZRSR2 Achchuthan Shanmugasundram edited their review of gene: ZRSR2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v5.78 ZFX Achchuthan Shanmugasundram edited their review of gene: ZFX: Added comment: 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) in females following NHS Genomic Medicine Service approval.; 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)
Fetal anomalies v5.78 WDR44 Achchuthan Shanmugasundram edited their review of gene: WDR44: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v5.78 WBP4 Achchuthan Shanmugasundram edited their review of gene: WBP4: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 WASHC5 Achchuthan Shanmugasundram edited their review of gene: WASHC5: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 USP14 Achchuthan Shanmugasundram commented on gene: USP14: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v5.78 UFSP2 Achchuthan Shanmugasundram edited their review of gene: UFSP2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 U2AF2 Achchuthan Shanmugasundram edited their review of gene: U2AF2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 TSHZ3 Achchuthan Shanmugasundram edited their review of gene: TSHZ3: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 TRIT1 Achchuthan Shanmugasundram edited their review of gene: TRIT1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 TONSL Achchuthan Shanmugasundram edited their review of gene: TONSL: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 TOGARAM1 Achchuthan Shanmugasundram edited their review of gene: TOGARAM1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 THSD1 Achchuthan Shanmugasundram edited their review of gene: THSD1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 TBR1 Achchuthan Shanmugasundram edited their review of gene: TBR1: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 TAF8 Achchuthan Shanmugasundram edited their review of gene: TAF8: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 SNF8 Achchuthan Shanmugasundram edited their review of gene: SNF8: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 SNAP25 Achchuthan Shanmugasundram edited their review of gene: SNAP25: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 SMPD1 Achchuthan Shanmugasundram edited their review of gene: SMPD1: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: AMBER
Fetal anomalies v5.78 SLC4A10 Achchuthan Shanmugasundram edited their review of gene: SLC4A10: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 SLC34A1 Achchuthan Shanmugasundram edited their review of gene: SLC34A1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 SLC25A4 Achchuthan Shanmugasundram edited their review of gene: SLC25A4: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 SETD1A Achchuthan Shanmugasundram edited their review of gene: SETD1A: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.78 SCYL2 Achchuthan Shanmugasundram edited their review of gene: SCYL2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 SASS6 Achchuthan Shanmugasundram edited their review of gene: SASS6: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 RSPRY1 Achchuthan Shanmugasundram edited their review of gene: RSPRY1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 RSPO2 Achchuthan Shanmugasundram edited their review of gene: RSPO2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 RRAS Achchuthan Shanmugasundram edited their review of gene: RRAS: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.78 RRAGC Achchuthan Shanmugasundram edited their review of gene: RRAGC: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 RPL13 Achchuthan Shanmugasundram edited their review of gene: RPL13: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.78 ROBO1 Achchuthan Shanmugasundram edited their review of gene: ROBO1: Added comment: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 RNU4-2 Achchuthan Shanmugasundram edited their review of gene: RNU4-2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 RFWD3 Achchuthan Shanmugasundram edited their review of gene: RFWD3: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 RAP1B Achchuthan Shanmugasundram edited their review of gene: RAP1B: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 RAB34 Achchuthan Shanmugasundram edited their review of gene: RAB34: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 PUM1 Achchuthan Shanmugasundram edited their review of gene: PUM1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 PSMF1 Achchuthan Shanmugasundram edited their review of gene: PSMF1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 PLS3 Achchuthan Shanmugasundram edited their review of gene: PLS3: Added comment: 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) in females following NHS Genomic Medicine Service approval.; 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)
Fetal anomalies v5.78 PLD1 Achchuthan Shanmugasundram edited their review of gene: PLD1: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: AMBER
Fetal anomalies v5.78 PKDCC Achchuthan Shanmugasundram edited their review of gene: PKDCC: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 PIP5K1C Achchuthan Shanmugasundram edited their review of gene: PIP5K1C: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 PIGS Achchuthan Shanmugasundram edited their review of gene: PIGS: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 PI4K2A Achchuthan Shanmugasundram edited their review of gene: PI4K2A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 PAN2 Achchuthan Shanmugasundram edited their review of gene: PAN2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 NUDT2 Achchuthan Shanmugasundram edited their review of gene: NUDT2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 NSUN6 Achchuthan Shanmugasundram edited their review of gene: NSUN6: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 NLRP3 Achchuthan Shanmugasundram edited their review of gene: NLRP3: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 MYBBP1A Achchuthan Shanmugasundram reviewed gene: MYBBP1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 MSTO1 Achchuthan Shanmugasundram edited their review of gene: MSTO1: Added comment: The mode of inheritance of this gene has been updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 MDFIC Achchuthan Shanmugasundram commented on gene: MDFIC: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Fetal anomalies v5.78 MAX Achchuthan Shanmugasundram edited their review of gene: MAX: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 MAP4K4 Achchuthan Shanmugasundram edited their review of gene: MAP4K4: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 LOX Achchuthan Shanmugasundram edited their review of gene: LOX: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 LNPK Achchuthan Shanmugasundram edited their review of gene: LNPK: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 LIPT2 Achchuthan Shanmugasundram edited their review of gene: LIPT2: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 LAMB2 Achchuthan Shanmugasundram edited their review of gene: LAMB2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 LAMA5 Achchuthan Shanmugasundram edited their review of gene: LAMA5: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 KMT2B Achchuthan Shanmugasundram edited their review of gene: KMT2B: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 KIF5B Achchuthan Shanmugasundram edited their review of gene: KIF5B: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 KIF26A Achchuthan Shanmugasundram edited their review of gene: KIF26A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 KIF24 Achchuthan Shanmugasundram edited their review of gene: KIF24: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 KDM2B Achchuthan Shanmugasundram edited their review of gene: KDM2B: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 KDELR2 Achchuthan Shanmugasundram edited their review of gene: KDELR2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 KCNK9 Achchuthan Shanmugasundram commented on gene: KCNK9: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) following NHS Genomic Medicine Service approval.
Fetal anomalies v5.78 KCNK3 Achchuthan Shanmugasundram edited their review of gene: KCNK3: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 KCNC3 Achchuthan Shanmugasundram edited their review of gene: KCNC3: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 INTS11 Achchuthan Shanmugasundram edited their review of gene: INTS11: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 HECTD4 Achchuthan Shanmugasundram edited their review of gene: HECTD4: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 GON4L Achchuthan Shanmugasundram edited their review of gene: GON4L: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 GNB2 Achchuthan Shanmugasundram commented on gene: GNB2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Fetal anomalies v5.78 FUZ Achchuthan Shanmugasundram edited their review of gene: FUZ: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 FTO Achchuthan Shanmugasundram edited their review of gene: FTO: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 FOXP4 Achchuthan Shanmugasundram edited their review of gene: FOXP4: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.78 FOSL2 Achchuthan Shanmugasundram edited their review of gene: FOSL2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 FN1 Achchuthan Shanmugasundram edited their review of gene: FN1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.78 FILIP1 Achchuthan Shanmugasundram edited their review of gene: FILIP1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 FAS Achchuthan Shanmugasundram edited their review of gene: FAS: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.78 ESAM Achchuthan Shanmugasundram commented on gene: ESAM: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Fetal anomalies v5.78 ERI1 Achchuthan Shanmugasundram edited their review of gene: ERI1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 ENG Achchuthan Shanmugasundram edited their review of gene: ENG: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 EMG1 Achchuthan Shanmugasundram edited their review of gene: EMG1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 EFCAB1 Achchuthan Shanmugasundram edited their review of gene: EFCAB1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 DRG1 Achchuthan Shanmugasundram edited their review of gene: DRG1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 DPYSL5 Achchuthan Shanmugasundram edited their review of gene: DPYSL5: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 DLG5 Achchuthan Shanmugasundram edited their review of gene: DLG5: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 DHX30 Achchuthan Shanmugasundram edited their review of gene: DHX30: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 DDRGK1 Achchuthan Shanmugasundram edited their review of gene: DDRGK1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 DAW1 Achchuthan Shanmugasundram edited their review of gene: DAW1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 CSGALNACT1 Achchuthan Shanmugasundram edited their review of gene: CSGALNACT1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 CNOT2 Achchuthan Shanmugasundram edited their review of gene: CNOT2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 CEP295 Achchuthan Shanmugasundram edited their review of gene: CEP295: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 CDK10 Achchuthan Shanmugasundram edited their review of gene: CDK10: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 CDH2 Achchuthan Shanmugasundram edited their review of gene: CDH2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.78 CBY1 Achchuthan Shanmugasundram edited their review of gene: CBY1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 CASP2 Achchuthan Shanmugasundram edited their review of gene: CASP2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 CACNA1S Achchuthan Shanmugasundram edited their review of gene: CACNA1S: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 C16orf62 Achchuthan Shanmugasundram edited their review of gene: C16orf62: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 ATG7 Achchuthan Shanmugasundram edited their review of gene: ATG7: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 ASXL3 Achchuthan Shanmugasundram edited their review of gene: ASXL3: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 AMOTL1 Achchuthan Shanmugasundram edited their review of gene: AMOTL1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.78 AL117258.1 Achchuthan Shanmugasundram edited their review of gene: AL117258.1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 ADD1 Achchuthan Shanmugasundram edited their review of gene: ADD1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.78 ADAMTS15 Achchuthan Shanmugasundram edited their review of gene: ADAMTS15: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.78 ACBD6 Achchuthan Shanmugasundram edited their review of gene: ACBD6: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.77 ZRSR2 Achchuthan Shanmugasundram Source Expert Review Green was added to ZRSR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ZFX Achchuthan Shanmugasundram Source Expert Review Green was added to ZFX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 WDR44 Achchuthan Shanmugasundram Source Expert Review Green was added to WDR44.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 WBP4 Achchuthan Shanmugasundram Source Expert Review Green was added to WBP4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 WASHC5 Achchuthan Shanmugasundram Source Expert Review Green was added to WASHC5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 USP14 Achchuthan Shanmugasundram Source NHS GMS was added to USP14.
Source Expert Review Green was added to USP14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 UFSP2 Achchuthan Shanmugasundram Source Expert Review Green was added to UFSP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 U2AF2 Achchuthan Shanmugasundram Source Expert Review Green was added to U2AF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 TSHZ3 Achchuthan Shanmugasundram Source Expert Review Green was added to TSHZ3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 TRIT1 Achchuthan Shanmugasundram Source Expert Review Green was added to TRIT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 TONSL Achchuthan Shanmugasundram Source Expert Review Green was added to TONSL.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 TOGARAM1 Achchuthan Shanmugasundram Source Expert Review Green was added to TOGARAM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 THSD1 Achchuthan Shanmugasundram Source Expert Review Green was added to THSD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 TBR1 Achchuthan Shanmugasundram Source Expert Review Green was added to TBR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 TAF8 Achchuthan Shanmugasundram Source Expert Review Green was added to TAF8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 SNF8 Achchuthan Shanmugasundram Source Expert Review Green was added to SNF8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 SNAP25 Achchuthan Shanmugasundram Source Expert Review Green was added to SNAP25.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 SMPD1 Achchuthan Shanmugasundram Source Expert Review Amber was added to SMPD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v5.77 SLC4A10 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC4A10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 SLC34A1 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC34A1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 SLC25A4 Achchuthan Shanmugasundram Source Expert Review Green was added to SLC25A4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 SETD1A Achchuthan Shanmugasundram Source Expert Review Green was added to SETD1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 SCYL2 Achchuthan Shanmugasundram Source Expert Review Green was added to SCYL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 SASS6 Achchuthan Shanmugasundram Source Expert Review Green was added to SASS6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 RSPRY1 Achchuthan Shanmugasundram Source Expert Review Green was added to RSPRY1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 RSPO2 Achchuthan Shanmugasundram Source Expert Review Green was added to RSPO2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 RRAS Achchuthan Shanmugasundram Source Expert Review Green was added to RRAS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 RRAGC Achchuthan Shanmugasundram Source Expert Review Green was added to RRAGC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 RPL13 Achchuthan Shanmugasundram Source Expert Review Green was added to RPL13.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ROBO1 Achchuthan Shanmugasundram Mode of inheritance for gene ROBO1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.77 RNU4-2 Achchuthan Shanmugasundram Source Expert Review Green was added to RNU4-2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 RFWD3 Achchuthan Shanmugasundram Source Expert Review Green was added to RFWD3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 RAP1B Achchuthan Shanmugasundram Source Expert Review Green was added to RAP1B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 RAB34 Achchuthan Shanmugasundram Source Expert Review Green was added to RAB34.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 PUM1 Achchuthan Shanmugasundram Source Expert Review Green was added to PUM1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 PSMF1 Achchuthan Shanmugasundram Source Expert Review Green was added to PSMF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 PLS3 Achchuthan Shanmugasundram Source Expert Review Green was added to PLS3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 PLD1 Achchuthan Shanmugasundram Source Expert Review Amber was added to PLD1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v5.77 PKDCC Achchuthan Shanmugasundram Source Expert Review Green was added to PKDCC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 PIP5K1C Achchuthan Shanmugasundram Source Expert Review Green was added to PIP5K1C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 PIGS Achchuthan Shanmugasundram Source Expert Review Green was added to PIGS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 PI4K2A Achchuthan Shanmugasundram Source Expert Review Green was added to PI4K2A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 PAN2 Achchuthan Shanmugasundram Source Expert Review Green was added to PAN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 NUDT2 Achchuthan Shanmugasundram Source Expert Review Green was added to NUDT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 NSUN6 Achchuthan Shanmugasundram Source Expert Review Green was added to NSUN6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 NLRP3 Achchuthan Shanmugasundram Source Expert Review Green was added to NLRP3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 MYBBP1A Achchuthan Shanmugasundram Source NHS GMS was added to MYBBP1A.
Source Expert Review Green was added to MYBBP1A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 MSTO1 Achchuthan Shanmugasundram Mode of inheritance for gene MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.77 MDFIC Achchuthan Shanmugasundram Source Expert Review Green was added to MDFIC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 MAX Achchuthan Shanmugasundram Source Expert Review Green was added to MAX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 MAP4K4 Achchuthan Shanmugasundram Source Expert Review Green was added to MAP4K4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 LOX Achchuthan Shanmugasundram Source Expert Review Green was added to LOX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 LNPK Achchuthan Shanmugasundram Source Expert Review Green was added to LNPK.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 LIPT2 Achchuthan Shanmugasundram Source Expert Review Green was added to LIPT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 LAMB2 Achchuthan Shanmugasundram Source Expert Review Green was added to LAMB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 LAMA5 Achchuthan Shanmugasundram Source Expert Review Green was added to LAMA5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 KMT2B Achchuthan Shanmugasundram Source Expert Review Green was added to KMT2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 KIF5B Achchuthan Shanmugasundram Source Expert Review Green was added to KIF5B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 KIF26A Achchuthan Shanmugasundram Source Expert Review Green was added to KIF26A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 KIF24 Achchuthan Shanmugasundram Source Expert Review Green was added to KIF24.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 KDM2B Achchuthan Shanmugasundram Source Expert Review Green was added to KDM2B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 KDELR2 Achchuthan Shanmugasundram Source Expert Review Green was added to KDELR2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 KCNK9 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNK9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 KCNK3 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 KCNC3 Achchuthan Shanmugasundram Source Expert Review Green was added to KCNC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 INTS11 Achchuthan Shanmugasundram Source Expert Review Green was added to INTS11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 HECTD4 Achchuthan Shanmugasundram Source Expert Review Green was added to HECTD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 GON4L Achchuthan Shanmugasundram Source Expert Review Green was added to GON4L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 GNB2 Achchuthan Shanmugasundram Source Expert Review Green was added to GNB2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 FUZ Achchuthan Shanmugasundram Source Expert Review Green was added to FUZ.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 FTO Achchuthan Shanmugasundram Source Expert Review Green was added to FTO.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 FOXP4 Achchuthan Shanmugasundram Source Expert Review Green was added to FOXP4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 FOSL2 Achchuthan Shanmugasundram Source Expert Review Green was added to FOSL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 FN1 Achchuthan Shanmugasundram Source Expert Review Green was added to FN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 FILIP1 Achchuthan Shanmugasundram Source Expert Review Green was added to FILIP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 FAS Achchuthan Shanmugasundram Source Expert Review Green was added to FAS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ESAM Achchuthan Shanmugasundram Source Expert Review Green was added to ESAM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ERI1 Achchuthan Shanmugasundram Source Expert Review Green was added to ERI1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ENG Achchuthan Shanmugasundram Source Expert Review Green was added to ENG.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 EMG1 Achchuthan Shanmugasundram Source Expert Review Green was added to EMG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 EFCAB1 Achchuthan Shanmugasundram Source Expert Review Green was added to EFCAB1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 DRG1 Achchuthan Shanmugasundram Source Expert Review Green was added to DRG1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 DPYSL5 Achchuthan Shanmugasundram Source Expert Review Green was added to DPYSL5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 DLG5 Achchuthan Shanmugasundram Source Expert Review Green was added to DLG5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 DHX30 Achchuthan Shanmugasundram Source Expert Review Green was added to DHX30.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 DDRGK1 Achchuthan Shanmugasundram Source Expert Review Green was added to DDRGK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 DAW1 Achchuthan Shanmugasundram Source Expert Review Green was added to DAW1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 CSGALNACT1 Achchuthan Shanmugasundram Source Expert Review Green was added to CSGALNACT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 CNOT2 Achchuthan Shanmugasundram Source Expert Review Green was added to CNOT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 CEP295 Achchuthan Shanmugasundram Source Expert Review Green was added to CEP295.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 CDK10 Achchuthan Shanmugasundram Source Expert Review Green was added to CDK10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 CDH2 Achchuthan Shanmugasundram Source Expert Review Green was added to CDH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 CBY1 Achchuthan Shanmugasundram Source Expert Review Green was added to CBY1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 CASP2 Achchuthan Shanmugasundram Source Expert Review Green was added to CASP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 CACNA1S Achchuthan Shanmugasundram Source Expert Review Green was added to CACNA1S.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 C16orf62 Achchuthan Shanmugasundram Source Expert Review Green was added to C16orf62.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ATG7 Achchuthan Shanmugasundram Source Expert Review Green was added to ATG7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ASXL3 Achchuthan Shanmugasundram Source Expert Review Green was added to ASXL3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 AMOTL1 Achchuthan Shanmugasundram Source Expert Review Green was added to AMOTL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 AL117258.1 Achchuthan Shanmugasundram Source Expert Review Green was added to AL117258.1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ADD1 Achchuthan Shanmugasundram Source Expert Review Green was added to ADD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ADAMTS15 Achchuthan Shanmugasundram Source Expert Review Green was added to ADAMTS15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.77 ACBD6 Achchuthan Shanmugasundram Source Expert Review Green was added to ACBD6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v5.76 DRC1 Achchuthan Shanmugasundram commented on gene: DRC1
Fetal anomalies v5.76 DPYSL5 Achchuthan Shanmugasundram commented on gene: DPYSL5
Fetal anomalies v5.76 DOHH Achchuthan Shanmugasundram commented on gene: DOHH
Fetal anomalies v5.76 DLX3 Achchuthan Shanmugasundram commented on gene: DLX3
Fetal anomalies v5.76 DLG5 Achchuthan Shanmugasundram commented on gene: DLG5
Fetal anomalies v5.76 DLG4 Achchuthan Shanmugasundram commented on gene: DLG4
Fetal anomalies v5.76 DHX30 Achchuthan Shanmugasundram commented on gene: DHX30
Fetal anomalies v5.76 DDRGK1 Achchuthan Shanmugasundram commented on gene: DDRGK1
Fetal anomalies v5.76 DCDC2 Achchuthan Shanmugasundram commented on gene: DCDC2
Fetal anomalies v5.76 DAW1 Achchuthan Shanmugasundram commented on gene: DAW1
Fetal anomalies v5.76 CYP2R1 Achchuthan Shanmugasundram commented on gene: CYP2R1
Fetal anomalies v5.76 CYP27B1 Achchuthan Shanmugasundram commented on gene: CYP27B1
Fetal anomalies v5.76 CYB5R3 Achchuthan Shanmugasundram commented on gene: CYB5R3
Fetal anomalies v5.75 DRC1 Elizabeth Wall reviewed gene: DRC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39152285, 34851034, 39462806; Phenotypes: Ciliary dyskinesia, primary, 21, MIM#615294; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.75 DPYSL5 Elizabeth Wall reviewed gene: DPYSL5: Rating: GREEN; Mode of pathogenicity: ; Publications: 33894126; Phenotypes: Ritscher-Schinzel syndrome 4, MIM#619435; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.75 DOHH Elizabeth Wall reviewed gene: DOHH: Rating: AMBER; Mode of pathogenicity: ; Publications: 35858628; Phenotypes: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM#620066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.75 DLX3 Elizabeth Wall reviewed gene: DLX3: Rating: RED; Mode of pathogenicity: ; Publications: 26762616, 26104267; Phenotypes: Trichodontoosseous syndrome, MIM#190320, Amelogenesis imperfecta, type IV, MIM#104510; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.75 DLG5 Elizabeth Wall reviewed gene: DLG5: Rating: GREEN; Mode of pathogenicity: ; Publications: 32631816, 30791088; Phenotypes: Yuksel-Vogel-Bauser syndrome, MIM#620703; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.75 DLG4 Elizabeth Wall reviewed gene: DLG4: Rating: AMBER; Mode of pathogenicity: ; Publications: 37347881; Phenotypes: Intellectual developmental disorder, autosomal dominant 62, MIM#618793; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.75 DHX30 Elizabeth Wall reviewed gene: DHX30: Rating: GREEN; Mode of pathogenicity: ; Publications: 38366977, 37094863, 34020708, 34180050, 34145223, 36643085; Phenotypes: Neurodevelopmental disorder with variable motor and language impairment, MIM#617804; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.75 DDRGK1 Elizabeth Wall reviewed gene: DDRGK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35377455, 28263186, 35670300, 36243336; Phenotypes: Spondyloepimetaphyseal dysplasia, Shohat type, MIM#602557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.75 DCDC2 Elizabeth Wall reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 35570614, 34155636, 36938759, 37296768, 36816379; Phenotypes: Sclerosing cholangitis, neonatal, MIM#617394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.75 DAW1 Elizabeth Wall reviewed gene: DAW1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36074124, 28991257; Phenotypes: Ciliary dyskinesia, primary, 52, MIM#620570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.75 CYP2R1 Elizabeth Wall reviewed gene: CYP2R1: Rating: RED; Mode of pathogenicity: ; Publications: 28548312, 15128933; Phenotypes: Rickets due to defect in vitamin D 25-hydroxylation deficiency, MIM#600081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.75 CYP27B1 Elizabeth Wall reviewed gene: CYP27B1: Rating: RED; Mode of pathogenicity: ; Publications: 34492747, 9486994, 27473561, 9415400, 33823104, 12050193; Phenotypes: Vitamin D-dependent rickets, type I, MIM#264700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.75 CYB5R3 Elizabeth Wall reviewed gene: CYB5R3: Rating: AMBER; Mode of pathogenicity: ; Publications: 34467556; Phenotypes: Methemoglobinemia, type II, MIM#250800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.74 DRC1 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 DPYSL5 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 DOHH Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 DLX3 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 DLG5 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 DLG4 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 DHX30 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 DDRGK1 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 DCDC2 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 DAW1 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 CYP2R1 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 CYP27B1 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 CYB5R3 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v5.74 ROBO1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: ROBO1.
Fetal anomalies v5.74 MSTO1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: MSTO1.
Fetal anomalies v5.74 SMPD1 Achchuthan Shanmugasundram Tag Q1_25_ demote_amber tag was added to gene: SMPD1.
Tag Q1_25_ NHS_review tag was added to gene: SMPD1.
Fetal anomalies v5.74 PLD1 Achchuthan Shanmugasundram Tag Q2_24_demote_red was removed from gene: PLD1.
Tag Q1_25_ demote_amber tag was added to gene: PLD1.
Tag Q1_25_ NHS_review tag was added to gene: PLD1.
Fetal anomalies v5.74 ZRSR2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: ZRSR2.
Tag Q1_25_ promote_green tag was added to gene: ZRSR2.
Fetal anomalies v5.74 WDR44 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: WDR44.
Tag Q1_25_ promote_green tag was added to gene: WDR44.
Fetal anomalies v5.74 ZFX Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: ZFX.
Tag Q1_25_ promote_green tag was added to gene: ZFX.
Fetal anomalies v5.74 WBP4 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: WBP4.
Tag Q1_25_ promote_green tag was added to gene: WBP4.
Fetal anomalies v5.74 WASHC5 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: WASHC5.
Tag Q1_25_ promote_green tag was added to gene: WASHC5.
Fetal anomalies v5.74 UFSP2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: UFSP2.
Tag Q1_25_ promote_green tag was added to gene: UFSP2.
Fetal anomalies v5.74 U2AF2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: U2AF2.
Tag Q1_25_ promote_green tag was added to gene: U2AF2.
Fetal anomalies v5.74 TSHZ3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: TSHZ3.
Tag Q1_25_ promote_green tag was added to gene: TSHZ3.
Fetal anomalies v5.74 TRIT1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: TRIT1.
Tag Q1_25_ promote_green tag was added to gene: TRIT1.
Fetal anomalies v5.74 TONSL Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: TONSL.
Tag Q1_25_ promote_green tag was added to gene: TONSL.
Fetal anomalies v5.74 TOGARAM1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: TOGARAM1.
Tag Q1_25_ promote_green tag was added to gene: TOGARAM1.
Fetal anomalies v5.74 THSD1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: THSD1.
Tag Q1_25_ promote_green tag was added to gene: THSD1.
Fetal anomalies v5.74 TBR1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: TBR1.
Tag Q1_25_ promote_green tag was added to gene: TBR1.
Fetal anomalies v5.74 TAF8 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: TAF8.
Tag Q1_25_ promote_green tag was added to gene: TAF8.
Fetal anomalies v5.74 SNF8 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: SNF8.
Tag Q1_23_promote_green tag was added to gene: SNF8.
Fetal anomalies v5.74 SNAP25 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: SNAP25.
Tag Q1_25_ promote_green tag was added to gene: SNAP25.
Fetal anomalies v5.74 SLC4A10 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: SLC4A10.
Tag Q1_25_ promote_green tag was added to gene: SLC4A10.
Fetal anomalies v5.74 SLC34A1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: SLC34A1.
Tag Q1_25_ promote_green tag was added to gene: SLC34A1.
Fetal anomalies v5.74 SLC25A4 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: SLC25A4.
Tag Q1_25_ promote_green tag was added to gene: SLC25A4.
Fetal anomalies v5.74 SETD1A Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: SETD1A.
Tag Q1_25_ promote_green tag was added to gene: SETD1A.
Fetal anomalies v5.74 SCYL2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: SCYL2.
Tag Q1_25_ promote_green tag was added to gene: SCYL2.
Fetal anomalies v5.74 SASS6 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: SASS6.
Tag Q1_25_ promote_green tag was added to gene: SASS6.
Fetal anomalies v5.74 RSPRY1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: RSPRY1.
Tag Q1_25_ promote_green tag was added to gene: RSPRY1.
Fetal anomalies v5.74 RSPO2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: RSPO2.
Tag Q1_25_ promote_green tag was added to gene: RSPO2.
Fetal anomalies v5.74 RRAS Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: RRAS.
Fetal anomalies v5.74 RRAGC Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: RRAGC.
Tag Q1_25_ promote_green tag was added to gene: RRAGC.
Fetal anomalies v5.74 RPL13 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: RPL13.
Tag Q1_25_ promote_green tag was added to gene: RPL13.
Fetal anomalies v5.74 RNU4-2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: RNU4-2.
Tag Q1_25_ promote_green tag was added to gene: RNU4-2.
Fetal anomalies v5.74 RFWD3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: RFWD3.
Tag Q1_25_ promote_green tag was added to gene: RFWD3.
Fetal anomalies v5.74 RAP1B Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: RAP1B.
Tag Q1_25_ promote_green tag was added to gene: RAP1B.
Fetal anomalies v5.74 RAB34 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: RAB34.
Tag Q1_25_ promote_green tag was added to gene: RAB34.
Fetal anomalies v5.74 PUM1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: PUM1.
Tag Q1_25_ promote_green tag was added to gene: PUM1.
Fetal anomalies v5.74 PSMF1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: PSMF1.
Tag Q1_25_ promote_green tag was added to gene: PSMF1.
Fetal anomalies v5.74 PLS3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: PLS3.
Tag Q1_25_ promote_green tag was added to gene: PLS3.
Fetal anomalies v5.74 PKDCC Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: PKDCC.
Tag Q1_25_ promote_green tag was added to gene: PKDCC.
Fetal anomalies v5.74 PIP5K1C Achchuthan Shanmugasundram Tag Q1_23_promote_green was removed from gene: PIP5K1C.
Tag Q1_25_ promote_green tag was added to gene: PIP5K1C.
Fetal anomalies v5.74 PIP5K1C Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: PIP5K1C.
Tag Q1_23_promote_green tag was added to gene: PIP5K1C.
Fetal anomalies v5.74 PIGS Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: PIGS.
Tag Q1_25_ promote_green tag was added to gene: PIGS.
Fetal anomalies v5.74 PI4K2A Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: PI4K2A.
Tag Q1_25_ promote_green tag was added to gene: PI4K2A.
Fetal anomalies v5.74 PAN2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: PAN2.
Tag Q1_25_ promote_green tag was added to gene: PAN2.
Fetal anomalies v5.74 NUDT2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: NUDT2.
Tag Q1_25_ promote_green tag was added to gene: NUDT2.
Fetal anomalies v5.74 NSUN6 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: NSUN6.
Tag Q1_25_ promote_green tag was added to gene: NSUN6.
Fetal anomalies v5.74 NLRP3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: NLRP3.
Tag Q1_25_ promote_green tag was added to gene: NLRP3.
Fetal anomalies v5.74 MDFIC Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: MDFIC.
Fetal anomalies v5.74 MAX Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: MAX.
Tag Q1_25_ promote_green tag was added to gene: MAX.
Fetal anomalies v5.74 MAP4K4 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: MAP4K4.
Tag Q1_25_ promote_green tag was added to gene: MAP4K4.
Fetal anomalies v5.74 LOX Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: LOX.
Tag Q1_25_ promote_green tag was added to gene: LOX.
Fetal anomalies v5.74 LNPK Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: LNPK.
Tag Q1_25_ promote_green tag was added to gene: LNPK.
Fetal anomalies v5.74 LIPT2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: LIPT2.
Tag Q1_25_ promote_green tag was added to gene: LIPT2.
Fetal anomalies v5.74 LAMB2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: LAMB2.
Tag Q1_25_ promote_green tag was added to gene: LAMB2.
Fetal anomalies v5.74 LAMA5 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: LAMA5.
Tag Q1_25_ promote_green tag was added to gene: LAMA5.
Fetal anomalies v5.74 KMT2B Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: KMT2B.
Tag Q1_25_ promote_green tag was added to gene: KMT2B.
Fetal anomalies v5.74 KIF5B Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: KIF5B.
Tag Q1_25_ promote_green tag was added to gene: KIF5B.
Fetal anomalies v5.74 KIF26A Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: KIF26A.
Tag Q1_25_ promote_green tag was added to gene: KIF26A.
Fetal anomalies v5.74 KIF24 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: KIF24.
Tag Q1_25_ promote_green tag was added to gene: KIF24.
Fetal anomalies v5.74 KDM2B Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: KDM2B.
Tag Q1_25_ promote_green tag was added to gene: KDM2B.
Fetal anomalies v5.74 KDELR2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: KDELR2.
Tag Q1_25_ promote_green tag was added to gene: KDELR2.
Fetal anomalies v5.74 KCNK3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: KCNK3.
Tag Q1_25_ promote_green tag was added to gene: KCNK3.
Fetal anomalies v5.74 INTS11 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: INTS11.
Tag Q1_25_ promote_green tag was added to gene: INTS11.
Fetal anomalies v5.74 HECTD4 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: HECTD4.
Tag Q1_25_ promote_green tag was added to gene: HECTD4.
Fetal anomalies v5.74 GON4L Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: GON4L.
Tag Q1_25_ promote_green tag was added to gene: GON4L.
Fetal anomalies v5.74 FUZ Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: FUZ.
Tag Q1_25_ promote_green tag was added to gene: FUZ.
Fetal anomalies v5.74 FTO Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: FTO.
Tag Q1_25_ promote_green tag was added to gene: FTO.
Fetal anomalies v5.74 FOXP4 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: FOXP4.
Tag Q1_25_ promote_green tag was added to gene: FOXP4.
Fetal anomalies v5.74 FOSL2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: FOSL2.
Tag Q1_25_ promote_green tag was added to gene: FOSL2.
Fetal anomalies v5.74 FN1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: FN1.
Tag Q1_25_ promote_green tag was added to gene: FN1.
Fetal anomalies v5.74 FILIP1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: FILIP1.
Tag Q1_25_ promote_green tag was added to gene: FILIP1.
Fetal anomalies v5.74 FAS Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: FAS.
Tag Q1_25_ promote_green tag was added to gene: FAS.
Fetal anomalies v5.74 ERI1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: ERI1.
Tag Q1_25_ promote_green tag was added to gene: ERI1.
Fetal anomalies v5.74 ENG Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: ENG.
Tag Q1_25_ promote_green tag was added to gene: ENG.
Fetal anomalies v5.74 EMG1 Achchuthan Shanmugasundram Tag watchlist was removed from gene: EMG1.
Tag Q1_25_ NHS_review tag was added to gene: EMG1.
Tag Q1_23_promote_green tag was added to gene: EMG1.
Fetal anomalies v5.74 EFCAB1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: EFCAB1.
Tag Q1_25_ promote_green tag was added to gene: EFCAB1.
Fetal anomalies v5.74 DRG1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: DRG1.
Tag Q1_25_ promote_green tag was added to gene: DRG1.
Fetal anomalies v5.74 DPYSL5 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: DPYSL5.
Tag Q1_25_ promote_green tag was added to gene: DPYSL5.
Fetal anomalies v5.74 DLG5 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: DLG5.
Tag Q1_25_ promote_green tag was added to gene: DLG5.
Fetal anomalies v5.74 DHX30 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: DHX30.
Tag Q1_25_ promote_green tag was added to gene: DHX30.
Fetal anomalies v5.74 DDRGK1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: DDRGK1.
Tag Q1_25_ promote_green tag was added to gene: DDRGK1.
Fetal anomalies v5.74 CSGALNACT1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: CSGALNACT1.
Fetal anomalies v5.74 CNOT2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: CNOT2.
Fetal anomalies v5.74 CEP295 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: CEP295.
Fetal anomalies v5.74 CDK10 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: CDK10.
Fetal anomalies v5.74 CDH2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: CDH2.
Fetal anomalies v5.74 CBY1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: CBY1.
Fetal anomalies v5.74 CASP2 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: CASP2.
Fetal anomalies v5.74 CACNA1S Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: CACNA1S.
Fetal anomalies v5.74 C16orf62 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: C16orf62.
Fetal anomalies v5.74 ATG7 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: ATG7.
Fetal anomalies v5.74 ASXL3 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: ASXL3.
Fetal anomalies v5.74 AMOTL1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: AMOTL1.
Fetal anomalies v5.74 AL117258.1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: AL117258.1.
Fetal anomalies v5.74 ADD1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: ADD1.
Fetal anomalies v5.74 ADAMTS15 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: ADAMTS15.
Fetal anomalies v5.74 ACBD6 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: ACBD6.
Fetal anomalies v5.74 DAW1 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: DAW1.
Fetal anomalies v5.74 DAW1 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: DAW1.
Fetal anomalies v5.74 CSGALNACT1 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: CSGALNACT1.
Fetal anomalies v5.74 CNOT2 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: CNOT2.
Fetal anomalies v5.74 CEP295 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: CEP295.
Fetal anomalies v5.74 CDK10 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: CDK10.
Fetal anomalies v5.74 CDH2 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: CDH2.
Fetal anomalies v5.74 CBY1 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: CBY1.
Fetal anomalies v5.74 CASP2 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: CASP2.
Fetal anomalies v5.74 CACNA1S Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: CACNA1S.
Fetal anomalies v5.74 C16orf62 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: C16orf62.
Fetal anomalies v5.74 ATG7 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: ATG7.
Fetal anomalies v5.74 ASXL3 Achchuthan Shanmugasundram Phenotypes for gene: ASXL3 were changed from Bainbridge-Ropers syndrome, OMIM:615485; Arthrogryposis to Bainbridge-Ropers syndrome, OMIM:615485
Fetal anomalies v5.73 ASXL3 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: ASXL3.
Fetal anomalies v5.73 AMOTL1 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: AMOTL1.
Fetal anomalies v5.73 AL117258.1 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: AL117258.1.
Fetal anomalies v5.73 ADD1 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: ADD1.
Fetal anomalies v5.73 ADAMTS15 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: ADAMTS15.
Fetal anomalies v5.73 ACBD6 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: ACBD6.
Fetal anomalies v5.73 ZNF750 Achchuthan Shanmugasundram Phenotypes for gene: ZNF750 were changed from Seborrhea-like dermatitis with psoriasiform elements, OMIM:610227; SEBORRHEA-LIKE DERMATITIS WITH PSORIASIFORM ELEMENTS to Seborrhea-like dermatitis with psoriasiform elements, OMIM:610227
Fetal anomalies v5.72 WASHC5 Achchuthan Shanmugasundram Phenotypes for gene: WASHC5 were changed from Ritscher-Schinzel syndrome 1 220210; Ritscher-Schinzel syndrome 1, OMIM:220210; Spastic paraplegia 8, autosomal dominant 603563 to Ritscher-Schinzel syndrome 1, OMIM:220210
Fetal anomalies v5.71 TUFM Achchuthan Shanmugasundram Phenotypes for gene: TUFM were changed from Combined oxidative phosphorylation deficiency 4, OMIM:610678; COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 4 to Combined oxidative phosphorylation deficiency 4, OMIM:610678
Fetal anomalies v5.70 TTC25 Achchuthan Shanmugasundram Phenotypes for gene: TTC25 were changed from Ciliary dyskinesia, primary, 35, OMIM:617092; Primary Ciliary Dyskinesia with Left-Right Body Asymmetry Randomization to Ciliary dyskinesia, primary, 35, OMIM:617092
Fetal anomalies v5.69 TOGARAM1 Achchuthan Shanmugasundram Phenotypes for gene: TOGARAM1 were changed from Joubert syndrome 37, OMIM:619185; Cleft of the lip and palate; Hydrocephalus; Microphthalmia; Cerebral dysgenesis to Joubert syndrome 37, OMIM:619185
Fetal anomalies v5.68 TNFRSF13B Achchuthan Shanmugasundram Phenotypes for gene: TNFRSF13B were changed from Immunodeficiency, common variable, 2, OMIM:240500; IMMUNODEFICIENCY, COMMON VARIABLE, 2 to Immunodeficiency, common variable, 2, OMIM:240500
Fetal anomalies v5.67 THSD1 Achchuthan Shanmugasundram Phenotypes for gene: THSD1 were changed from ?Hydrops fetalis; Intracerebral aneurysms; Lymphatic malformation 13, OMIM:620244 to Lymphatic malformation 13, OMIM:620244
Fetal anomalies v5.66 TBR1 Achchuthan Shanmugasundram Phenotypes for gene: TBR1 were changed from AUTISM; Intellectual developmental disorder with autism and speech delay, OMIM:606053 to Intellectual developmental disorder with autism and speech delay, OMIM:606053
Fetal anomalies v5.65 TACR3 Achchuthan Shanmugasundram Phenotypes for gene: TACR3 were changed from HYPOGONADOTROPIC HYPOGONADISM; Hypogonadotropic hypogonadism 11 with or without anosmia, OMIM:614840 to Hypogonadotropic hypogonadism 11 with or without anosmia, OMIM:614840
Fetal anomalies v5.64 TAC3 Achchuthan Shanmugasundram Phenotypes for gene: TAC3 were changed from Hypogonadotropic hypogonadism 10 with or without anosmia, OMIM:614839; HYPOGONADOTROPIC HYPOGONADISM to Hypogonadotropic hypogonadism 10 with or without anosmia, OMIM:614839
Fetal anomalies v5.63 STAG1 Achchuthan Shanmugasundram Phenotypes for gene: STAG1 were changed from Intellectual developmental disorder, autosomal dominant 47, OMIM:617635; STAG1 syndromic intellectual disability to Intellectual developmental disorder, autosomal dominant 47, OMIM:617635
Fetal anomalies v5.62 SNAP25 Achchuthan Shanmugasundram Phenotypes for gene: SNAP25 were changed from Epilepsy and intellectual disability; Myasthenic syndrome, congenital, 18, OMIM:616330 to Myasthenic syndrome, congenital, 18, OMIM:616330
Fetal anomalies v5.61 SMPD1 Achchuthan Shanmugasundram Phenotypes for gene: SMPD1 were changed from Niemann-Pick disease, type B, OMIM:607616; NIEMANN-PICK DISEASE TYPE A; NIEMANN-PICK DISEASE TYPE B; Niemann-Pick disease, type A, OMIM:257200 to Niemann-Pick disease, type B, OMIM:607616; Niemann-Pick disease, type A, OMIM:257200
Fetal anomalies v5.60 SMOC2 Achchuthan Shanmugasundram Phenotypes for gene: SMOC2 were changed from DENTIN DYSPLASIA, TYPE I, WITH MICRODONTIA AND MISSHAPEN TEETH; Dentin dysplasia, type I, with microdontia and misshapen teeth, OMIM:125400 to Dentin dysplasia, type I, with microdontia and misshapen teeth, OMIM:125400
Fetal anomalies v5.59 SLC35A1 Achchuthan Shanmugasundram Phenotypes for gene: SLC35A1 were changed from CONGENITAL DISORDERS OF GLYCOSYLATION; Congenital disorder of glycosylation, type IIf, OMIM:603585 to Congenital disorder of glycosylation, type IIf, OMIM:603585
Fetal anomalies v5.58 SLC25A4 Achchuthan Shanmugasundram Phenotypes for gene: SLC25A4 were changed from Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number; Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM:617184 to Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM:617184
Fetal anomalies v5.57 SLC24A4 Achchuthan Shanmugasundram Phenotypes for gene: SLC24A4 were changed from Amelogenesis imperfecta, type IIA5, OMIM:615887; AMELOGENESIS IMPERFECTA. to Amelogenesis imperfecta, type IIA5, OMIM:615887
Fetal anomalies v5.56 SETD1A Achchuthan Shanmugasundram Phenotypes for gene: SETD1A were changed from INTELLECTUAL DISABILITY; Neurodevelopmental disorder with speech impairment and dysmorphic facies, OMIM:619056 to Neurodevelopmental disorder with speech impairment and dysmorphic facies, OMIM:619056
Fetal anomalies v5.55 SASS6 Achchuthan Shanmugasundram Phenotypes for gene: SASS6 were changed from Microcephaly 14, primary, autosomal recessive, OMIM:616402; ?Microcephaly 14, primary, autosomal recessive 616402 to Microcephaly 14, primary, autosomal recessive, OMIM:616402
Fetal anomalies v5.54 RSPRY1 Achchuthan Shanmugasundram Phenotypes for gene: RSPRY1 were changed from PROGRESSIVE SPONDYLOEPIMETAPHYSEAL DYSPLASIA; Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723 to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723
Fetal anomalies v5.53 RRAS Achchuthan Shanmugasundram Phenotypes for gene: RRAS were changed from Noonan syndrome, MONDO:0018997; RRAS-related atypical Noonan syndrome to Noonan syndrome, MONDO:0018997
Fetal anomalies v5.52 NUAK2 Achchuthan Shanmugasundram Phenotypes for gene: NUAK2 were changed from Anencephaly; ?Anencephaly 2, OMIM:619452 to ?Anencephaly 2, OMIM:619452
Fetal anomalies v5.51 NHP2 Achchuthan Shanmugasundram Phenotypes for gene: NHP2 were changed from DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 2; Dyskeratosis congenita, autosomal recessive 2, OMIM:613987 to Dyskeratosis congenita, autosomal recessive 2, OMIM:613987
Fetal anomalies v5.50 LRBA Achchuthan Shanmugasundram Phenotypes for gene: LRBA were changed from Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700; CHILDHOOD-ONSET HYPOGAMMAGLOBULINEMIA to Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700
Fetal anomalies v5.49 LRAT Achchuthan Shanmugasundram Phenotypes for gene: LRAT were changed from Leber congenital amaurosis 14, OMIM:613341; LEBER CONGENITAL AMAUROSIS to Leber congenital amaurosis 14, OMIM:613341
Fetal anomalies v5.48 LOX Achchuthan Shanmugasundram Phenotypes for gene: LOX were changed from Aortopathy; Aortic aneurysm, familial thoracic 10, OMIM:617168 to Aortic aneurysm, familial thoracic 10, OMIM:617168
Fetal anomalies v5.47 LIPT2 Achchuthan Shanmugasundram Phenotypes for gene: LIPT2 were changed from Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy; Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, OMIM:617668 to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, OMIM:617668
Fetal anomalies v5.46 LIPN Achchuthan Shanmugasundram Phenotypes for gene: LIPN were changed from ICHTHYOSIS, LAMELLAR, 4; Ichthyosis, congenital, autosomal recessive 8, OMIM:613943 to Ichthyosis, congenital, autosomal recessive 8, OMIM:613943
Fetal anomalies v5.45 KCNT1 Achchuthan Shanmugasundram Phenotypes for gene: KCNT1 were changed from SEVERE AUTOSOMAL DOMINANT NOCTURNAL FRONTAL LOBE EPILEPSY; MALIGNANT MIGRATING PARTIAL SEIZURES OF INFANCY; Developmental and epileptic encephalopathy 14, OMIM:614959 to Developmental and epileptic encephalopathy 14, OMIM:614959
Fetal anomalies v5.44 KCNJ6 Achchuthan Shanmugasundram Phenotypes for gene: KCNJ6 were changed from Keppen-Lubinsky syndrome, OMIM:614098; KEPPEN-LUBINSKY SYNDROME to Keppen-Lubinsky syndrome, OMIM:614098
Fetal anomalies v5.43 KCNC3 Achchuthan Shanmugasundram Phenotypes for gene: KCNC3 were changed from Spinocerebellar ataxia 13, OMIM:605259; SPINOCEREBELLAR ATAXIA TYPE 13 to Spinocerebellar ataxia 13, OMIM:605259
Fetal anomalies v5.42 ITCH Achchuthan Shanmugasundram Phenotypes for gene: ITCH were changed from Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385; AUTOIMMUNE DISEASE, SYNDROMIC MULTISYSTEM to Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385
Fetal anomalies v5.41 INPP5K Achchuthan Shanmugasundram Phenotypes for gene: INPP5K were changed from Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404; Muscular dystrophy, congenital, with cataracts and intellectual disability to Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404
Fetal anomalies v5.40 GPAA1 Achchuthan Shanmugasundram Phenotypes for gene: GPAA1 were changed from Developmental Delay, Epilepsy, Cerebellar Atrophy, and Osteopenia; Glycosylphosphatidylinositol biosynthesis defect 15, OMIM:617810 to Glycosylphosphatidylinositol biosynthesis defect 15, OMIM:617810
Fetal anomalies v5.39 GNAQ Achchuthan Shanmugasundram Phenotypes for gene: GNAQ were changed from Sturge-Weber syndrome, somatic, mosaic, OMIM:185300; Congenital Hemangioma; Capillary malformations, congenital, 1, somatic, mosaic, OMIM:163000 to Sturge-Weber syndrome, somatic, mosaic, OMIM:185300; Capillary malformations, congenital, 1, somatic, mosaic, OMIM:163000
Fetal anomalies v5.38 GNA11 Achchuthan Shanmugasundram Phenotypes for gene: GNA11 were changed from Congenital Hemangioma; Hypocalciuric hypercalcemia, type II, OMIM:145981; Hypocalcemia, autosomal dominant 2, OMIM:615361 to Hypocalciuric hypercalcemia, type II, OMIM:145981; Hypocalcemia, autosomal dominant 2, OMIM:615361
Fetal anomalies v5.37 GLIS2 Achchuthan Shanmugasundram Phenotypes for gene: GLIS2 were changed from NEPHRONOPHTHISIS 7; Nephronophthisis 7, OMIM:611498 to Nephronophthisis 7, OMIM:611498
Fetal anomalies v5.36 GDF2 Achchuthan Shanmugasundram Phenotypes for gene: GDF2 were changed from hydrops; Lymphatic dysplasia; Telangiectasia, hereditary hemorrhagic, type 5, OMIM:615506; hydrothorax to Telangiectasia, hereditary hemorrhagic, type 5, OMIM:615506
Fetal anomalies v5.35 FUZ Achchuthan Shanmugasundram Phenotypes for gene: FUZ were changed from Skeletal ciliopathy, MONDO:0005308; Neural tube defects 182940 to Skeletal ciliopathy, MONDO:0005308
Fetal anomalies v5.34 FTO Achchuthan Shanmugasundram Phenotypes for gene: FTO were changed from Growth retardation, developmental delay, facial dysmorphism; Growth retardation, developmental delay, facial dysmorphism, OMIM: 612938 to Growth retardation, developmental delay, facial dysmorphism, OMIM: 612938
Fetal anomalies v5.33 FN1 Achchuthan Shanmugasundram Phenotypes for gene: FN1 were changed from Spondylometaphyseal dysplasia, corner fracture type, OMIM:184255; Spondylometaphyseal Dysplasia with Corner Fractures to Spondylometaphyseal dysplasia, corner fracture type, OMIM:184255
Fetal anomalies v5.32 DRC1 Achchuthan Shanmugasundram Phenotypes for gene: DRC1 were changed from Ciliary dyskinesia, primary, 21, OMIM:615294; PRIMARY CILARY DYSKINEASIA to Ciliary dyskinesia, primary, 21, OMIM:615294
Fetal anomalies v5.31 DLG4 Achchuthan Shanmugasundram Phenotypes for gene: DLG4 were changed from DLG4 related intellectual disability; Intellectual developmental disorder, autosomal dominant 62, OMIM:618793 to Intellectual developmental disorder, autosomal dominant 62, OMIM:618793
Fetal anomalies v5.30 DHX30 Achchuthan Shanmugasundram Phenotypes for gene: DHX30 were changed from Neurodevelopmental Disorder; Neurodevelopmental disorder with variable motor and speech impairment, OMIM:617804 to Neurodevelopmental disorder with variable motor and speech impairment, OMIM:617804
Fetal anomalies v5.29 DCDC2 Achchuthan Shanmugasundram Phenotypes for gene: DCDC2 were changed from RENAL-HEPATIC CILIOPATHY; Sclerosing cholangitis, neonatal, OMIM:617394 to Sclerosing cholangitis, neonatal, OMIM:617394
Fetal anomalies v5.28 CSTA Achchuthan Shanmugasundram Phenotypes for gene: CSTA were changed from EXFOLIATIVE ICHTHYOSIS, AUTOSOMAL RECESSIVE, ICHTHYOSIS BULLOSA OF SIEMENS-LIKE; Peeling skin syndrome 4, OMIM:607936 to Peeling skin syndrome 4, OMIM:607936
Fetal anomalies v5.27 CRELD1 Achchuthan Shanmugasundram Phenotypes for gene: CRELD1 were changed from Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771; HETEROTAXY SYNDROME to Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771
Fetal anomalies v5.26 CLPP Achchuthan Shanmugasundram Phenotypes for gene: CLPP were changed from Perrault syndrome 3, OMIM:614129; PERRAULT SYNDROME to Perrault syndrome 3, OMIM:614129
Fetal anomalies v5.25 CHD8 Achchuthan Shanmugasundram Phenotypes for gene: CHD8 were changed from AUTISM; Intellectual developmental disorder with autism and macrocephaly, OMIM:615032 to Intellectual developmental disorder with autism and macrocephaly, OMIM:615032
Fetal anomalies v5.24 CHD3 Achchuthan Shanmugasundram Phenotypes for gene: CHD3 were changed from Apraxia of speech; Snijders Blok-Campeau syndrome, OMIM:618205 to Snijders Blok-Campeau syndrome, OMIM:618205
Fetal anomalies v5.23 CD151 Achchuthan Shanmugasundram Phenotypes for gene: CD151 were changed from Epidermolysis bullosa simplex 7, with nephropathy and deafness, OMIM:609057; NEPHROPATHY WITH PRETIBIAL EPIDERMOLYSIS BULLOSA AND DEAFNESS to Epidermolysis bullosa simplex 7, with nephropathy and deafness, OMIM:609057
Fetal anomalies v5.22 CAMTA1 Achchuthan Shanmugasundram Phenotypes for gene: CAMTA1 were changed from Cerebellar dysfunction with variable cognitive and behavioral abnormalities, OMIM:614756; CEREBELLAR ATAXIA, NONPROGRESSIVE, WITH MENTAL RETARDATION to Cerebellar dysfunction with variable cognitive and behavioral abnormalities, OMIM:614756
Fetal anomalies v5.21 CAMK2B Achchuthan Shanmugasundram Phenotypes for gene: CAMK2B were changed from INTELLECTUAL DISABILITY; Intellectual developmental disorder, autosomal dominant 54, OMIM:617799 to Intellectual developmental disorder, autosomal dominant 54, OMIM:617799
Fetal anomalies v5.20 CACNA1S Achchuthan Shanmugasundram Phenotypes for gene: CACNA1S were changed from Congenital myopathy 18 due to dihydropyridine receptor defect, OMIM:620246; Congenital myopathy; arthrogryposis to Congenital myopathy 18 due to dihydropyridine receptor defect, OMIM:620246
Fetal anomalies v5.19 BPTF Achchuthan Shanmugasundram Phenotypes for gene: BPTF were changed from Developmental and Speech Delay, Postnatal Microcephaly, and Dysmorphic Features; Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, OMIM:617755 to Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, OMIM:617755
Fetal anomalies v5.18 ALG13 Achchuthan Shanmugasundram Phenotypes for gene: ALG13 were changed from CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IS; EPILEPTIC ENCEPHALOPATHY; EPILEPTIC ENCEPHALOPATHIES.; Developmental and epileptic encephalopathy 36, OMIM:300884 to Developmental and epileptic encephalopathy 36, OMIM:300884
Fetal anomalies v5.17 ALG11 Achchuthan Shanmugasundram Phenotypes for gene: ALG11 were changed from ALG11-CDG; Congenital disorder of glycosylation, type Ip, OMIM:613661 to Congenital disorder of glycosylation, type Ip, OMIM:613661
Fetal anomalies v5.16 C16orf62 Achchuthan Shanmugasundram commented on gene: C16orf62: The 'new-gene-name' tag has been added as the HGNC approved gene symbol is VPS35L.
Fetal anomalies v5.16 C16orf62 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: C16orf62.
Fetal anomalies v5.16 AL117258.1 Achchuthan Shanmugasundram commented on gene: AL117258.1: The 'new-gene-name' tag has been added as the HGNC approved symbol for this gene is CIROP.
Fetal anomalies v5.16 AL117258.1 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: AL117258.1.
Fetal anomalies v5.16 ZSCAN10 Achchuthan Shanmugasundram commented on gene: ZSCAN10
Fetal anomalies v5.16 ZRSR2 Achchuthan Shanmugasundram commented on gene: ZRSR2
Fetal anomalies v5.16 ZNF750 Achchuthan Shanmugasundram commented on gene: ZNF750
Fetal anomalies v5.16 ZNF687 Achchuthan Shanmugasundram commented on gene: ZNF687
Fetal anomalies v5.16 ZNF423 Achchuthan Shanmugasundram commented on gene: ZNF423
Fetal anomalies v5.16 ZMYND8 Achchuthan Shanmugasundram commented on gene: ZMYND8
Fetal anomalies v5.16 ZFX Achchuthan Shanmugasundram commented on gene: ZFX
Fetal anomalies v5.16 XPNPEP3 Achchuthan Shanmugasundram commented on gene: XPNPEP3
Fetal anomalies v5.16 WNT9B Achchuthan Shanmugasundram commented on gene: WNT9B
Fetal anomalies v5.16 WISP3 Achchuthan Shanmugasundram commented on gene: WISP3
Fetal anomalies v5.16 WDR44 Achchuthan Shanmugasundram commented on gene: WDR44
Fetal anomalies v5.16 WBP4 Achchuthan Shanmugasundram commented on gene: WBP4
Fetal anomalies v5.16 WASHC5 Achchuthan Shanmugasundram commented on gene: WASHC5
Fetal anomalies v5.16 VHL Achchuthan Shanmugasundram commented on gene: VHL
Fetal anomalies v5.16 UQCC2 Achchuthan Shanmugasundram commented on gene: UQCC2
Fetal anomalies v5.16 UNC45A Achchuthan Shanmugasundram commented on gene: UNC45A
Fetal anomalies v5.16 UFSP2 Achchuthan Shanmugasundram commented on gene: UFSP2
Fetal anomalies v5.16 U2AF2 Achchuthan Shanmugasundram commented on gene: U2AF2
Fetal anomalies v5.16 TYROBP Achchuthan Shanmugasundram commented on gene: TYROBP
Fetal anomalies v5.16 TULP3 Achchuthan Shanmugasundram commented on gene: TULP3
Fetal anomalies v5.16 TUFM Achchuthan Shanmugasundram commented on gene: TUFM
Fetal anomalies v5.16 TTC25 Achchuthan Shanmugasundram commented on gene: TTC25
Fetal anomalies v5.16 TSHZ3 Achchuthan Shanmugasundram commented on gene: TSHZ3
Fetal anomalies v5.16 TRPM7 Achchuthan Shanmugasundram commented on gene: TRPM7
Fetal anomalies v5.16 TRIT1 Achchuthan Shanmugasundram commented on gene: TRIT1
Fetal anomalies v5.16 TREM2 Achchuthan Shanmugasundram commented on gene: TREM2
Fetal anomalies v5.16 TONSL Achchuthan Shanmugasundram commented on gene: TONSL
Fetal anomalies v5.16 TOMM7 Achchuthan Shanmugasundram commented on gene: TOMM7
Fetal anomalies v5.16 TOGARAM1 Achchuthan Shanmugasundram commented on gene: TOGARAM1
Fetal anomalies v5.16 TNRC6B Achchuthan Shanmugasundram commented on gene: TNRC6B
Fetal anomalies v5.16 TNFSF11 Achchuthan Shanmugasundram commented on gene: TNFSF11
Fetal anomalies v5.16 TNFRSF13B Achchuthan Shanmugasundram commented on gene: TNFRSF13B
Fetal anomalies v5.16 THSD1 Achchuthan Shanmugasundram commented on gene: THSD1
Fetal anomalies v5.16 TBR1 Achchuthan Shanmugasundram commented on gene: TBR1
Fetal anomalies v5.16 TAF8 Achchuthan Shanmugasundram commented on gene: TAF8
Fetal anomalies v5.16 TACR3 Achchuthan Shanmugasundram commented on gene: TACR3
Fetal anomalies v5.16 TAC3 Achchuthan Shanmugasundram commented on gene: TAC3
Fetal anomalies v5.16 STX5 Achchuthan Shanmugasundram commented on gene: STX5
Fetal anomalies v5.16 STAG1 Achchuthan Shanmugasundram commented on gene: STAG1
Fetal anomalies v5.16 SPIN4 Achchuthan Shanmugasundram commented on gene: SPIN4
Fetal anomalies v5.16 SNUPN Achchuthan Shanmugasundram commented on gene: SNUPN
Fetal anomalies v5.16 SNRPE Achchuthan Shanmugasundram commented on gene: SNRPE
Fetal anomalies v5.16 SNF8 Achchuthan Shanmugasundram commented on gene: SNF8
Fetal anomalies v5.16 SNAP25 Achchuthan Shanmugasundram commented on gene: SNAP25
Fetal anomalies v5.16 SMPD1 Achchuthan Shanmugasundram commented on gene: SMPD1
Fetal anomalies v5.16 SMOC2 Achchuthan Shanmugasundram commented on gene: SMOC2
Fetal anomalies v5.16 SLCO2A1 Achchuthan Shanmugasundram commented on gene: SLCO2A1
Fetal anomalies v5.16 SLC4A10 Achchuthan Shanmugasundram commented on gene: SLC4A10
Fetal anomalies v5.16 SLC35A1 Achchuthan Shanmugasundram commented on gene: SLC35A1
Fetal anomalies v5.16 SLC34A3 Achchuthan Shanmugasundram commented on gene: SLC34A3
Fetal anomalies v5.16 SLC34A1 Achchuthan Shanmugasundram commented on gene: SLC34A1
Fetal anomalies v5.16 SLC30A7 Achchuthan Shanmugasundram commented on gene: SLC30A7
Fetal anomalies v5.16 SLC25A4 Achchuthan Shanmugasundram commented on gene: SLC25A4
Fetal anomalies v5.16 SLC24A4 Achchuthan Shanmugasundram commented on gene: SLC24A4
Fetal anomalies v5.16 SIAH1 Achchuthan Shanmugasundram commented on gene: SIAH1
Fetal anomalies v5.16 SHROOM4 Achchuthan Shanmugasundram commented on gene: SHROOM4
Fetal anomalies v5.16 SHROOM3 Achchuthan Shanmugasundram commented on gene: SHROOM3
Fetal anomalies v5.16 SH3BP2 Achchuthan Shanmugasundram commented on gene: SH3BP2
Fetal anomalies v5.16 SGMS2 Achchuthan Shanmugasundram commented on gene: SGMS2
Fetal anomalies v5.16 SFRP4 Achchuthan Shanmugasundram commented on gene: SFRP4
Fetal anomalies v5.16 SETD1A Achchuthan Shanmugasundram commented on gene: SETD1A
Fetal anomalies v5.16 SCYL2 Achchuthan Shanmugasundram commented on gene: SCYL2
Fetal anomalies v5.16 SASS6 Achchuthan Shanmugasundram commented on gene: SASS6
Fetal anomalies v5.16 RSPRY1 Achchuthan Shanmugasundram commented on gene: RSPRY1
Fetal anomalies v5.16 RSPO2 Achchuthan Shanmugasundram commented on gene: RSPO2
Fetal anomalies v5.16 RRAS Achchuthan Shanmugasundram commented on gene: RRAS
Fetal anomalies v5.16 RRAGC Achchuthan Shanmugasundram commented on gene: RRAGC
Fetal anomalies v5.16 RPL13 Achchuthan Shanmugasundram commented on gene: RPL13
Fetal anomalies v5.16 ROBO2 Achchuthan Shanmugasundram commented on gene: ROBO2
Fetal anomalies v5.16 ROBO1 Achchuthan Shanmugasundram commented on gene: ROBO1
Fetal anomalies v5.16 RNU4-2 Achchuthan Shanmugasundram commented on gene: RNU4-2
Fetal anomalies v5.16 RINT1 Achchuthan Shanmugasundram commented on gene: RINT1
Fetal anomalies v5.16 RFWD3 Achchuthan Shanmugasundram commented on gene: RFWD3
Fetal anomalies v5.16 RASGRP2 Achchuthan Shanmugasundram commented on gene: RASGRP2
Fetal anomalies v5.16 RAP1B Achchuthan Shanmugasundram commented on gene: RAP1B: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 RAB34 Achchuthan Shanmugasundram commented on gene: RAB34
Fetal anomalies v5.16 PUM1 Achchuthan Shanmugasundram commented on gene: PUM1
Fetal anomalies v5.16 PSMF1 Achchuthan Shanmugasundram commented on gene: PSMF1
Fetal anomalies v5.16 PSMC3 Achchuthan Shanmugasundram commented on gene: PSMC3
Fetal anomalies v5.16 PSMB9 Achchuthan Shanmugasundram commented on gene: PSMB9
Fetal anomalies v5.16 PRKG2 Achchuthan Shanmugasundram commented on gene: PRKG2
Fetal anomalies v5.16 PRKCSH Achchuthan Shanmugasundram commented on gene: PRKCSH
Fetal anomalies v5.16 PLS3 Achchuthan Shanmugasundram commented on gene: PLS3
Fetal anomalies v5.16 PLD1 Achchuthan Shanmugasundram commented on gene: PLD1
Fetal anomalies v5.16 PKDCC Achchuthan Shanmugasundram commented on gene: PKDCC
Fetal anomalies v5.16 PISD Achchuthan Shanmugasundram commented on gene: PISD
Fetal anomalies v5.16 PIP5K1C Achchuthan Shanmugasundram commented on gene: PIP5K1C
Fetal anomalies v5.16 PIGY Achchuthan Shanmugasundram commented on gene: PIGY
Fetal anomalies v5.16 PIGS Achchuthan Shanmugasundram commented on gene: PIGS
Fetal anomalies v5.16 PIGG Achchuthan Shanmugasundram commented on gene: PIGG
Fetal anomalies v5.16 PI4K2A Achchuthan Shanmugasundram commented on gene: PI4K2A
Fetal anomalies v5.16 PHLDB1 Achchuthan Shanmugasundram commented on gene: PHLDB1
Fetal anomalies v5.16 PAN2 Achchuthan Shanmugasundram commented on gene: PAN2
Fetal anomalies v5.16 NUP214 Achchuthan Shanmugasundram commented on gene: NUP214
Fetal anomalies v5.16 NUDT2 Achchuthan Shanmugasundram commented on gene: NUDT2
Fetal anomalies v5.16 NUAK2 Achchuthan Shanmugasundram commented on gene: NUAK2
Fetal anomalies v5.16 NSUN6 Achchuthan Shanmugasundram commented on gene: NSUN6
Fetal anomalies v5.16 NSUN2 Achchuthan Shanmugasundram commented on gene: NSUN2
Fetal anomalies v5.16 NPR3 Achchuthan Shanmugasundram commented on gene: NPR3
Fetal anomalies v5.16 NPNT Achchuthan Shanmugasundram commented on gene: NPNT
Fetal anomalies v5.16 NLRP3 Achchuthan Shanmugasundram commented on gene: NLRP3: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 NHP2 Achchuthan Shanmugasundram commented on gene: NHP2
Fetal anomalies v5.16 NARS Achchuthan Shanmugasundram commented on gene: NARS
Fetal anomalies v5.16 MSTO1 Achchuthan Shanmugasundram commented on gene: MSTO1
Fetal anomalies v5.16 MMP2 Achchuthan Shanmugasundram commented on gene: MMP2
Fetal anomalies v5.16 MMP15 Achchuthan Shanmugasundram commented on gene: MMP15
Fetal anomalies v5.16 MIR17HG Achchuthan Shanmugasundram commented on gene: MIR17HG
Fetal anomalies v5.16 MDFIC Achchuthan Shanmugasundram commented on gene: MDFIC: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 MBOAT7 Achchuthan Shanmugasundram commented on gene: MBOAT7
Fetal anomalies v5.16 MAX Achchuthan Shanmugasundram commented on gene: MAX
Fetal anomalies v5.16 MAPKBP1 Achchuthan Shanmugasundram commented on gene: MAPKBP1
Fetal anomalies v5.16 MAP4K4 Achchuthan Shanmugasundram commented on gene: MAP4K4
Fetal anomalies v5.16 LSM11 Achchuthan Shanmugasundram commented on gene: LSM11
Fetal anomalies v5.16 LRRK1 Achchuthan Shanmugasundram commented on gene: LRRK1
Fetal anomalies v5.16 LRIG2 Achchuthan Shanmugasundram commented on gene: LRIG2
Fetal anomalies v5.16 LRBA Achchuthan Shanmugasundram commented on gene: LRBA
Fetal anomalies v5.16 LRAT Achchuthan Shanmugasundram commented on gene: LRAT
Fetal anomalies v5.16 LPIN2 Achchuthan Shanmugasundram commented on gene: LPIN2
Fetal anomalies v5.16 LOX Achchuthan Shanmugasundram commented on gene: LOX
Fetal anomalies v5.16 LNPK Achchuthan Shanmugasundram commented on gene: LNPK
Fetal anomalies v5.16 LIPT2 Achchuthan Shanmugasundram commented on gene: LIPT2
Fetal anomalies v5.16 LIPN Achchuthan Shanmugasundram commented on gene: LIPN
Fetal anomalies v5.16 LINS1 Achchuthan Shanmugasundram commented on gene: LINS1
Fetal anomalies v5.16 LAMB2 Achchuthan Shanmugasundram commented on gene: LAMB2
Fetal anomalies v5.16 LAMA5 Achchuthan Shanmugasundram commented on gene: LAMA5
Fetal anomalies v5.16 KPTN Achchuthan Shanmugasundram commented on gene: KPTN
Fetal anomalies v5.16 KMT2B Achchuthan Shanmugasundram commented on gene: KMT2B
Fetal anomalies v5.16 KIF5B Achchuthan Shanmugasundram commented on gene: KIF5B
Fetal anomalies v5.16 KIF26A Achchuthan Shanmugasundram commented on gene: KIF26A
Fetal anomalies v5.16 KIF24 Achchuthan Shanmugasundram commented on gene: KIF24
Fetal anomalies v5.16 KDR Achchuthan Shanmugasundram commented on gene: KDR
Fetal anomalies v5.16 KDM5A Achchuthan Shanmugasundram commented on gene: KDM5A
Fetal anomalies v5.16 KDM2B Achchuthan Shanmugasundram commented on gene: KDM2B
Fetal anomalies v5.16 KDELR2 Achchuthan Shanmugasundram commented on gene: KDELR2
Fetal anomalies v5.16 KCNT1 Achchuthan Shanmugasundram commented on gene: KCNT1: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 KCNN3 Achchuthan Shanmugasundram commented on gene: KCNN3
Fetal anomalies v5.16 KCNK9 Achchuthan Shanmugasundram commented on gene: KCNK9: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 KCNK3 Achchuthan Shanmugasundram commented on gene: KCNK3
Fetal anomalies v5.16 KCNJ6 Achchuthan Shanmugasundram commented on gene: KCNJ6
Fetal anomalies v5.16 KCNC3 Achchuthan Shanmugasundram commented on gene: KCNC3
Fetal anomalies v5.16 ITCH Achchuthan Shanmugasundram commented on gene: ITCH
Fetal anomalies v5.16 INTS13 Achchuthan Shanmugasundram commented on gene: INTS13
Fetal anomalies v5.16 INTS11 Achchuthan Shanmugasundram commented on gene: INTS11
Fetal anomalies v5.16 INPP5K Achchuthan Shanmugasundram commented on gene: INPP5K
Fetal anomalies v5.16 IL1RN Achchuthan Shanmugasundram commented on gene: IL1RN
Fetal anomalies v5.16 IDH2 Achchuthan Shanmugasundram commented on gene: IDH2
Fetal anomalies v5.16 HECTD4 Achchuthan Shanmugasundram commented on gene: HECTD4
Fetal anomalies v5.16 HEATR3 Achchuthan Shanmugasundram commented on gene: HEATR3
Fetal anomalies v5.16 GTPBP1 Achchuthan Shanmugasundram commented on gene: GTPBP1
Fetal anomalies v5.16 GPC4 Achchuthan Shanmugasundram commented on gene: GPC4
Fetal anomalies v5.16 GPAA1 Achchuthan Shanmugasundram commented on gene: GPAA1
Fetal anomalies v5.16 GON4L Achchuthan Shanmugasundram commented on gene: GON4L
Fetal anomalies v5.16 GNB2 Achchuthan Shanmugasundram commented on gene: GNB2: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 GNAQ Achchuthan Shanmugasundram commented on gene: GNAQ
Fetal anomalies v5.16 GNAI1 Achchuthan Shanmugasundram commented on gene: GNAI1
Fetal anomalies v5.16 GNA14 Achchuthan Shanmugasundram commented on gene: GNA14
Fetal anomalies v5.16 GNA11 Achchuthan Shanmugasundram commented on gene: GNA11
Fetal anomalies v5.16 GLIS2 Achchuthan Shanmugasundram commented on gene: GLIS2
Fetal anomalies v5.16 GDF2 Achchuthan Shanmugasundram commented on gene: GDF2
Fetal anomalies v5.16 GALNT3 Achchuthan Shanmugasundram commented on gene: GALNT3
Fetal anomalies v5.16 FZD6 Achchuthan Shanmugasundram commented on gene: FZD6
Fetal anomalies v5.16 FZD5 Achchuthan Shanmugasundram commented on gene: FZD5
Fetal anomalies v5.16 FUZ Achchuthan Shanmugasundram commented on gene: FUZ
Fetal anomalies v5.16 FTO Achchuthan Shanmugasundram commented on gene: FTO
Fetal anomalies v5.16 FRYL Achchuthan Shanmugasundram commented on gene: FRYL
Fetal anomalies v5.16 FOXP4 Achchuthan Shanmugasundram commented on gene: FOXP4
Fetal anomalies v5.16 FOXI3 Achchuthan Shanmugasundram commented on gene: FOXI3
Fetal anomalies v5.16 FOSL2 Achchuthan Shanmugasundram commented on gene: FOSL2
Fetal anomalies v5.16 FN1 Achchuthan Shanmugasundram commented on gene: FN1
Fetal anomalies v5.16 FLCN Achchuthan Shanmugasundram commented on gene: FLCN
Fetal anomalies v5.16 FILIP1 Achchuthan Shanmugasundram commented on gene: FILIP1
Fetal anomalies v5.16 FGF23 Achchuthan Shanmugasundram commented on gene: FGF23
Fetal anomalies v5.16 FGF16 Achchuthan Shanmugasundram commented on gene: FGF16
Fetal anomalies v5.16 FERMT3 Achchuthan Shanmugasundram commented on gene: FERMT3
Fetal anomalies v5.16 FAS Achchuthan Shanmugasundram commented on gene: FAS
Fetal anomalies v5.16 EXPH5 Achchuthan Shanmugasundram commented on gene: EXPH5
Fetal anomalies v5.16 ESAM Achchuthan Shanmugasundram commented on gene: ESAM: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 ERI1 Achchuthan Shanmugasundram commented on gene: ERI1
Fetal anomalies v5.16 ENG Achchuthan Shanmugasundram commented on gene: ENG
Fetal anomalies v5.16 EMILIN1 Achchuthan Shanmugasundram commented on gene: EMILIN1
Fetal anomalies v5.16 EMG1 Achchuthan Shanmugasundram commented on gene: EMG1
Fetal anomalies v5.16 EIF3B Achchuthan Shanmugasundram commented on gene: EIF3B
Fetal anomalies v5.16 EFEMP1 Achchuthan Shanmugasundram commented on gene: EFEMP1
Fetal anomalies v5.16 EFCAB1 Achchuthan Shanmugasundram commented on gene: EFCAB1
Fetal anomalies v5.16 DVL2 Achchuthan Shanmugasundram commented on gene: DVL2
Fetal anomalies v5.16 DRG1 Achchuthan Shanmugasundram commented on gene: DRG1
Fetal anomalies v5.16 DRC1 Achchuthan Shanmugasundram commented on gene: DRC1: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 DPYSL5 Achchuthan Shanmugasundram commented on gene: DPYSL5: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 DOHH Achchuthan Shanmugasundram commented on gene: DOHH: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 DLX3 Achchuthan Shanmugasundram commented on gene: DLX3: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 DLG5 Achchuthan Shanmugasundram commented on gene: DLG5: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 DLG4 Achchuthan Shanmugasundram commented on gene: DLG4: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 DHX30 Achchuthan Shanmugasundram commented on gene: DHX30: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 DDRGK1 Achchuthan Shanmugasundram commented on gene: DDRGK1: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 DCDC2 Achchuthan Shanmugasundram commented on gene: DCDC2: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 DAW1 Achchuthan Shanmugasundram commented on gene: DAW1: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 CYP2R1 Achchuthan Shanmugasundram commented on gene: CYP2R1: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 CYP27B1 Achchuthan Shanmugasundram commented on gene: CYP27B1: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 CYB5R3 Achchuthan Shanmugasundram commented on gene: CYB5R3: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 CUL3 Achchuthan Shanmugasundram commented on gene: CUL3
Fetal anomalies v5.16 CTSC Achchuthan Shanmugasundram commented on gene: CTSC
Fetal anomalies v5.16 CSTA Achchuthan Shanmugasundram commented on gene: CSTA
Fetal anomalies v5.16 CSMD1 Achchuthan Shanmugasundram commented on gene: CSMD1
Fetal anomalies v5.16 CSGALNACT1 Achchuthan Shanmugasundram commented on gene: CSGALNACT1
Fetal anomalies v5.16 CRELD1 Achchuthan Shanmugasundram commented on gene: CRELD1
Fetal anomalies v5.16 COPB2 Achchuthan Shanmugasundram commented on gene: COPB2
Fetal anomalies v5.16 CNOT2 Achchuthan Shanmugasundram commented on gene: CNOT2
Fetal anomalies v5.16 CLPP Achchuthan Shanmugasundram commented on gene: CLPP
Fetal anomalies v5.16 CLCN5 Achchuthan Shanmugasundram commented on gene: CLCN5: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 CHD8 Achchuthan Shanmugasundram commented on gene: CHD8
Fetal anomalies v5.16 CHD3 Achchuthan Shanmugasundram commented on gene: CHD3
Fetal anomalies v5.16 CEP295 Achchuthan Shanmugasundram commented on gene: CEP295
Fetal anomalies v5.16 CELSR3 Achchuthan Shanmugasundram commented on gene: CELSR3
Fetal anomalies v5.16 CDK10 Achchuthan Shanmugasundram commented on gene: CDK10
Fetal anomalies v5.16 CDH2 Achchuthan Shanmugasundram commented on gene: CDH2
Fetal anomalies v5.16 CD40LG Achchuthan Shanmugasundram commented on gene: CD40LG
Fetal anomalies v5.16 CD151 Achchuthan Shanmugasundram commented on gene: CD151
Fetal anomalies v5.16 CBY1 Achchuthan Shanmugasundram commented on gene: CBY1
Fetal anomalies v5.16 CASP2 Achchuthan Shanmugasundram commented on gene: CASP2
Fetal anomalies v5.16 CAPRIN1 Achchuthan Shanmugasundram commented on gene: CAPRIN1
Fetal anomalies v5.16 CAMTA1 Achchuthan Shanmugasundram commented on gene: CAMTA1
Fetal anomalies v5.16 CAMK2B Achchuthan Shanmugasundram commented on gene: CAMK2B
Fetal anomalies v5.16 CACNA1S Achchuthan Shanmugasundram commented on gene: CACNA1S
Fetal anomalies v5.16 CACHD1 Achchuthan Shanmugasundram commented on gene: CACHD1: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 C1GALT1C1 Achchuthan Shanmugasundram commented on gene: C1GALT1C1
Fetal anomalies v5.16 C16orf62 Achchuthan Shanmugasundram commented on gene: C16orf62
Fetal anomalies v5.16 BPTF Achchuthan Shanmugasundram commented on gene: BPTF
Fetal anomalies v5.16 AXIN1 Achchuthan Shanmugasundram commented on gene: AXIN1
Fetal anomalies v5.16 ATG7 Achchuthan Shanmugasundram commented on gene: ATG7
Fetal anomalies v5.16 ASXL3 Achchuthan Shanmugasundram commented on gene: ASXL3
Fetal anomalies v5.16 ASPH Achchuthan Shanmugasundram commented on gene: ASPH
Fetal anomalies v5.16 ASCC3 Achchuthan Shanmugasundram commented on gene: ASCC3
Fetal anomalies v5.16 ARV1 Achchuthan Shanmugasundram commented on gene: ARV1: This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Fetal anomalies v5.16 AMOTL1 Achchuthan Shanmugasundram commented on gene: AMOTL1
Fetal anomalies v5.16 ALG5 Achchuthan Shanmugasundram commented on gene: ALG5
Fetal anomalies v5.16 ALG13 Achchuthan Shanmugasundram commented on gene: ALG13
Fetal anomalies v5.16 ALG11 Achchuthan Shanmugasundram commented on gene: ALG11
Fetal anomalies v5.16 AL117258.1 Achchuthan Shanmugasundram commented on gene: AL117258.1
Fetal anomalies v5.16 ADD1 Achchuthan Shanmugasundram commented on gene: ADD1
Fetal anomalies v5.16 ADAMTS15 Achchuthan Shanmugasundram commented on gene: ADAMTS15
Fetal anomalies v5.16 ACBD6 Achchuthan Shanmugasundram commented on gene: ACBD6
Fetal anomalies v5.16 ABCD4 Achchuthan Shanmugasundram commented on gene: ABCD4
Fetal anomalies v5.15 ZSCAN10 Vicki Harrison reviewed gene: ZSCAN10: Rating: AMBER; Mode of pathogenicity: ; Publications: 38386308; Phenotypes: Otofacial neurodevelopmental syndrome, MIM#620910; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 ZRSR2 Vicki Harrison reviewed gene: ZRSR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 38158857; Phenotypes: Orofaciodigital syndrome, MONDO:0015375, ZRSR2-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v5.15 ZNF750 Vicki Harrison reviewed gene: ZNF750: Rating: RED; Mode of pathogenicity: ; Publications: 16751772; Phenotypes: Seborrhea-like dermatitis with psoriasiform elements, MIM#610227; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 ZNF687 Vicki Harrison reviewed gene: ZNF687: Rating: RED; Mode of pathogenicity: ; Publications: 29493781, 26849110; Phenotypes: Paget disease of bone 6, MIM#616833; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 ZNF423 Vicki Harrison reviewed gene: ZNF423: Rating: AMBER; Mode of pathogenicity: ; Publications: 39071699, 32925911, 33531950; Phenotypes: Joubert syndrome 19 / Nephronophthisis 14, MIM#614844; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.15 ZMYND8 Vicki Harrison reviewed gene: ZMYND8: Rating: AMBER; Mode of pathogenicity: ; Publications: 32530565, 35916866; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 ZFX Vicki Harrison reviewed gene: ZFX: Rating: GREEN; Mode of pathogenicity: ; Publications: 38325380; Phenotypes: Intellectual developmental disorder, X-linked syndromic 37, MIM#301118; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v5.15 XPNPEP3 Vicki Harrison reviewed gene: XPNPEP3: Rating: AMBER; Mode of pathogenicity: ; Publications: 32660933, 20179356; Phenotypes: Nephronophthisis-like nephropathy 1, MIM#613159; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 WNT9B Vicki Harrison reviewed gene: WNT9B: Rating: AMBER; Mode of pathogenicity: ; Publications: 34145744; Phenotypes: Renal agenesis/hypoplasia/dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 WISP3 Anna de Burca reviewed gene: WISP3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Progressive pseudorheumatoid dysplasia, MIM#208230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 WDR44 Vicki Harrison reviewed gene: WDR44: Rating: GREEN; Mode of pathogenicity: ; Publications: 38191484; Phenotypes: Ciliopathy, MONDO:0005308, WDR44-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v5.15 WBP4 Vicki Harrison reviewed gene: WBP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 37963460, 37425688; Phenotypes: Neurodevelopmental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities, MIM#620852; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 WASHC5 Vicki Harrison reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 24065355; Phenotypes: Ritscher-Schinzel syndrome 1, MIM#220210; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 VHL Vicki Harrison reviewed gene: VHL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: von Hippel-Lindau syndrome MIM#193300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 UQCC2 Sarah Graham reviewed gene: UQCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 24385928, 28804536; Phenotypes: Mitochondrial complex III deficiency, nuclear type 7, MIM#615824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 UNC45A Sarah Graham reviewed gene: UNC45A: Rating: RED; Mode of pathogenicity: ; Publications: 29429573; Phenotypes: Osteootohepatoenteric syndrome, MIM#619377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 UFSP2 Sarah Graham reviewed gene: UFSP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32755715, 33473208, 28892125, 26428751; Phenotypes: Spondyloepimetaphyseal dysplasia, Di Rocco type, MIM#617974, Beukes Hip Dysplasia, MIM#142669; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 U2AF2 Sarah Graham reviewed gene: U2AF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 34112922, 36747105, 37092751, 37134193; Phenotypes: Developmental delay, dysmorphic facies, and brain anomalies MIM#620535; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 TYROBP Sarah Graham reviewed gene: TYROBP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, MIM#221770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 TULP3 Sarah Graham reviewed gene: TULP3: Rating: RED; Mode of pathogenicity: ; Publications: 36276950, 30799239, 36460032, 30799240, 35397207; Phenotypes: Hepatorenocardiac degenerative fibrosis, MIM #619902; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 TUFM Sarah Graham reviewed gene: TUFM: Rating: AMBER; Mode of pathogenicity: ; Publications: 26741492, 17160893; Phenotypes: Combined oxidative phosphorylation deficiency 4, MIM#610678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 TTC25 Samantha Doyle reviewed gene: TTC25: Rating: AMBER; Mode of pathogenicity: ; Publications: 27486780, 31765523, 34215651, 33746037, 33715250; Phenotypes: Ciliary dyskinesia, primary, 35, MIM#617092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 TSHZ3 Sarah Graham reviewed gene: TSHZ3: Rating: GREEN; Mode of pathogenicity: ; Publications: 39420202, 34919690, 36553458; Phenotypes: Congenital anomaly of kidney and urinary tract; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 TRPM7 Sarah Graham reviewed gene: TRPM7: Rating: RED; Mode of pathogenicity: ; Publications: 31423533, 39621058, 35561741, 39099563, 35712613; Phenotypes: Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to, MIM#105500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 TRIT1 Sarah Graham reviewed gene: TRIT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32088416, 36049610; Phenotypes: Combined oxidative phosphorylation deficiency 35, MIM#617873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 TREM2 Sarah Graham reviewed gene: TREM2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM#618193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 TONSL Sarah Graham reviewed gene: TONSL: Rating: GREEN; Mode of pathogenicity: ; Publications: 32959051, 30773277, 30773278; Phenotypes: Spondyloepimetaphyseal dysplasia, sponastrime type, MIM#271510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 TOMM7 Sarah Graham reviewed gene: TOMM7: Rating: AMBER; Mode of pathogenicity: ; Publications: 36299998, 36282599; Phenotypes: Garg-Mishra progeroid syndrome, MIM#620601; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 TOGARAM1 Sarah Graham reviewed gene: TOGARAM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32453716, 32747439; Phenotypes: Joubert syndrome 37, MIM#619185; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 TNRC6B Esther Kinning reviewed gene: TNRC6B: Rating: RED; Mode of pathogenicity: ; Publications: 32152250, 29463886; Phenotypes: Global developmental delay with speech and behavioral abnormalities, MIM#619243; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 TNFSF11 Sunayna Best reviewed gene: TNFSF11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 2, MIM#259710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 TNFRSF13B Sunayna Best reviewed gene: TNFRSF13B: Rating: RED; Mode of pathogenicity: ; Publications: 16007087, 16007086; Phenotypes: Immunodeficiency, common variable, 2, MIM#240500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.15 THSD1 Sunayna Best reviewed gene: THSD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27895300, 33569873, 30055085, 37993095; Phenotypes: Lymphatic malformation 13, MIM#620244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 TBR1 Sunayna Best reviewed gene: TBR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32005960; Phenotypes: Intellectual developmental disorder with autism and speech delay, MIM#606053; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 TAF8 Sunayna Best reviewed gene: TAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 39169228; Phenotypes: Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, MIM#619972; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 TACR3 Sunayna Best reviewed gene: TACR3: Rating: RED; Mode of pathogenicity: ; Publications: 19079066, 20332248; Phenotypes: Hypogonadotropic hypogonadism 11 with or without anosmia, MIM#614840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 TAC3 Sunayna Best reviewed gene: TAC3: Rating: RED; Mode of pathogenicity: ; Publications: 20332248; Phenotypes: Hypogonadotropic hypogonadism 10 with or without anosmia, MIM#614839; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 STX5 Sunayna Best reviewed gene: STX5: Rating: AMBER; Mode of pathogenicity: ; Publications: 34711829; Phenotypes: Congenital disorder of glycosylation, type IIaa, MIM#620454; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 STAG1 Natalie Bibb reviewed gene: STAG1: Rating: RED; Mode of pathogenicity: ; Publications: 39224759, 34440290, 28119487; Phenotypes: Intellectual developmental disorder, autosomal dominant 47, MIM#617635; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v5.15 SPIN4 Sunayna Best reviewed gene: SPIN4: Rating: AMBER; Mode of pathogenicity: ; Publications: 36927955; Phenotypes: Lui-Jee-Baron syndrome, MIM#301114; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v5.15 SNUPN Sunayna Best reviewed gene: SNUPN: Rating: AMBER; Mode of pathogenicity: ; Publications: 38413582, 38366623; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 29, MIM#620793; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 SNRPE Sunayna Best reviewed gene: SNRPE: Rating: RED; Mode of pathogenicity: ; Publications: 33792916, 9621144; Phenotypes: Hypotrichosis 11, MIM#615059; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 SNF8 Sunayna Best reviewed gene: SNF8: Rating: GREEN; Mode of pathogenicity: ; Publications: 38423010; Phenotypes: Developmental and epileptic encephalopathy 115, MIM#620783, Neurodevelopmental disorder plus optic atrophy, MIM#620784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 SNAP25 Sunayna Best reviewed gene: SNAP25: Rating: GREEN; Mode of pathogenicity: ; Publications: 36379720, 33299146; Phenotypes: Myasthenic syndrome, congenital, 18, MIM#616330; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 SMPD1 Natalie Chandler reviewed gene: SMPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Niemann-Pick disease, type A, MIM#257200, Niemann-Pick disease, type B, MIM#607616; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 SMOC2 Sunayna Best reviewed gene: SMOC2: Rating: RED; Mode of pathogenicity: ; Publications: 22152679, 23317772; Phenotypes: Dentin dysplasia, type I, with microdontia and misshapen teeth, MIM#125400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 SLCO2A1 Stephanie Allen reviewed gene: SLCO2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: PHOAR2-enteropathy syndrome, MIM#614441, Hypertrophic osteoarthropathy, primary, autosomal dominant, MIM#167100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.15 SLC4A10 Stephanie Allen reviewed gene: SLC4A10: Rating: GREEN; Mode of pathogenicity: ; Publications: 31130284, 37459438, 38054405; Phenotypes: Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, MIM#620746; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 SLC35A1 Stephanie Allen reviewed gene: SLC35A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30115659, 28856833; Phenotypes: Congenital disorder of glycosylation, type IIf, MIM#603585; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 SLC34A3 Stephanie Allen reviewed gene: SLC34A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypophosphatemic rickets with hypercalciuria, MIM#241530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 SLC34A1 Stephanie Allen reviewed gene: SLC34A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 9560283, 25050900, 12324554; Phenotypes: Infantile hypercalcemia-2, MIM#616963; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 SLC30A7 Stephanie Allen reviewed gene: SLC30A7: Rating: AMBER; Mode of pathogenicity: ; Publications: 36821639; Phenotypes: Ziegler-Huang syndrome, MIM#620501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 SLC25A4 Stephanie Allen reviewed gene: SLC25A4: Rating: GREEN; Mode of pathogenicity: ; Publications: 27693233, 30013777; Phenotypes: Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, MIM#617184; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 SLC24A4 Stephanie Allen reviewed gene: SLC24A4: Rating: RED; Mode of pathogenicity: ; Publications: 24621671, 23375655; Phenotypes: Amelogenesis imperfecta, type IIA5, MIM#615887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 SIAH1 Esther Kinning reviewed gene: SIAH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32430360; Phenotypes: Buratti-Harel syndrome, MIM#619314; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 SHROOM4 Stephanie Allen reviewed gene: SHROOM4: Rating: RED; Mode of pathogenicity: ; Publications: 32565546, 36379543; Phenotypes: Abnormal corpus callosum; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v5.15 SHROOM3 Stephanie Allen reviewed gene: SHROOM3: Rating: AMBER; Mode of pathogenicity: ; Publications: 32621286; Phenotypes: Neural tube defect; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 SH3BP2 Stephanie Allen reviewed gene: SH3BP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cherubism, MIM#118400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 SGMS2 Stephanie Allen reviewed gene: SGMS2: Rating: RED; Mode of pathogenicity: ; Publications: 30779713, 32028018; Phenotypes: Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia, MIM#126550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 SFRP4 Stephanie Allen reviewed gene: SFRP4: Rating: RED; Mode of pathogenicity: ; Publications: 24096177, 22387305, 28100910, 20174869, 27117872, 22965941, 27355534, 26273529; Phenotypes: Pyle disease, MIM#265900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 SETD1A Stephanie Allen reviewed gene: SETD1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 37000069; Phenotypes: Neurodevelopmental disorder with speech impairment and dysmorphic facies, MIM#619056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 SCYL2 Soo-Mi Park reviewed gene: SCYL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 39138116, 39169672; Phenotypes: Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, MIM#618766; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 SASS6 Soo-Mi Park reviewed gene: SASS6: Rating: GREEN; Mode of pathogenicity: ; Publications: 38501757, 24951542, 30639237, 36739862; Phenotypes: Microcephaly 14, primary, autosomal recessive, MIM#616402; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 RSPRY1 Soo-Mi Park reviewed gene: RSPRY1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30063090, 38562122, 26365341; Phenotypes: Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, MIM#616723; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 RSPO2 Soo-Mi Park reviewed gene: RSPO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32457899, 29769720; Phenotypes: Tetraamelia syndrome 2, MIM#618021; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 RRAS Soo-Mi Park reviewed gene: RRAS: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 24705357, 32815881, 34935735; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 RRAGC Soo-Mi Park reviewed gene: RRAGC: Rating: GREEN; Mode of pathogenicity: ; Publications: 37057673, 27234373; Phenotypes: Long-Olsen-Distelmaier syndrome, MIM#620609; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 RPL13 Soo-Mi Park reviewed gene: RPL13: Rating: GREEN; Mode of pathogenicity: ; Publications: 31630789; Phenotypes: Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, MIM#618728; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 ROBO2 Soo-Mi Park reviewed gene: ROBO2: Rating: RED; Mode of pathogenicity: ; Publications: 34059960, 24429398, 17357069, 26026792, 19350278, 18235093, 29194579; Phenotypes: Vesicoureteral reflux 2, MIM#610878; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 ROBO1 Sarah Graham reviewed gene: ROBO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35227688, 28286008, 29194579; Phenotypes: Neurooculorenal syndrome, MIM#620305; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 RNU4-2 Soo-Mi Park reviewed gene: RNU4-2: Rating: GREEN; Mode of pathogenicity: ; Publications: 38991538, 38821540, 38859706; Phenotypes: ReNU syndrome, MIM#620851; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 RINT1 Soo-Mi Park reviewed gene: RINT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 31204009; Phenotypes: Infantile liver failure syndrome 3, MIM#618641; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 RFWD3 Soo-Mi Park reviewed gene: RFWD3: Rating: GREEN; Mode of pathogenicity: ; Publications: 38058754, 2869192; Phenotypes: Fanconi anemia, complementation group W, MIM#617784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 RASGRP2 Soo-Mi Park reviewed gene: RASGRP2: Rating: RED; Mode of pathogenicity: ; Publications: 18709451, 24958846; Phenotypes: Bleeding disorder, platelet-type, 18, MIM#615888; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 RAP1B Soo-Mi Park reviewed gene: RAP1B: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 37850357, 35451551, 32627184; Phenotypes: Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, MIM#620654; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 RAB34 Soo-Mi Park reviewed gene: RAB34: Rating: GREEN; Mode of pathogenicity: ; Publications: 37619988, 37384395; Phenotypes: Orofaciodigital syndrome XX, MIM#620718; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 PUM1 Soo-Mi Park reviewed gene: PUM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25768905, 30903679, 29474920, 31859446, 35386260; Phenotypes: Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, MIM#620719; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 PSMF1 Sarah Graham reviewed gene: PSMF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 39148840; Phenotypes: Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 PSMC3 Sarah Graham reviewed gene: PSMC3: Rating: AMBER; Mode of pathogenicity: ; Publications: 37256937; Phenotypes: Neurodevelopmental disorder, MONDO:0700092; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 PSMB9 Sarah Graham reviewed gene: PSMB9: Rating: RED; Mode of pathogenicity: ; Publications: 33727065, 34819510; Phenotypes: Proteasome-associated autoinflammatory syndrome 6, MIM#620796; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 PRKG2 Sarah Graham reviewed gene: PRKG2: Rating: AMBER; Mode of pathogenicity: ; Publications: 34680883, 33106379, 34782440; Phenotypes: Spondylometaphyseal dysplasia, Pagnamenta type, MIM#619638, Acromesomelic dysplasia 4, MIM#619636; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 PRKCSH Sarah Graham reviewed gene: PRKCSH: Rating: RED; Mode of pathogenicity: ; Publications: 24886261, 12529853, 12577059; Phenotypes: Polycystic liver disease 1 with or without kidney cysts, MIM#174050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 PLS3 Sarah Graham reviewed gene: PLS3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 24088043, 37751738, 29736964, 25209159, 32655496, 28777485, 29884797; Phenotypes: Diaphragmatic hernia 5, X-linked, MIM#306950; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v5.15 PLD1 Sarah Graham reviewed gene: PLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33645542, 27799408; Phenotypes: Cardiac valvular dysplasia 1, MIM#212093; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 PKDCC Sarah Graham reviewed gene: PKDCC: Rating: GREEN; Mode of pathogenicity: ; Publications: 30478137, 19097194; Phenotypes: Rhizomelic limb shortening with dysmorphic features, MIM#618821; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 PISD Sarah Graham reviewed gene: PISD: Rating: AMBER; Mode of pathogenicity: ; Publications: 31263216, 30858161, 30488656, 3561949; Phenotypes: Liberfarb syndrome, MIM#618889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 PIP5K1C Sarah Graham reviewed gene: PIP5K1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 17701898, 38491417; Phenotypes: Lethal congenital contractural syndrome 3, MIM#611369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 PIGY Sarah Graham reviewed gene: PIGY: Rating: AMBER; Mode of pathogenicity: ; Publications: 26293662, 38790248; Phenotypes: Hyperphosphatasia with impaired intellectual development syndrome 6, MIM#616809; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 PIGS Sarah Graham reviewed gene: PIGS: Rating: GREEN; Mode of pathogenicity: ; Publications: 33410539, 37035392; Phenotypes: Developmental and epileptic encephalopathy 95, MIM#618143; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 PIGG Sarah Graham reviewed gene: PIGG: Rating: AMBER; Mode of pathogenicity: ; Publications: 34113002, 26996948; Phenotypes: Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, MIM#616917; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 PI4K2A Sarah Graham reviewed gene: PI4K2A: Rating: GREEN; Mode of pathogenicity: ; Publications: 30564627, 35880319, 32418222; Phenotypes: Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, MIM#620732; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 PHLDB1 Sarah Graham reviewed gene: PHLDB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 36543534; Phenotypes: Osteogenesis imperfecta, type XXIII, MIM#620639; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 PAN2 Samantha Doyle reviewed gene: PAN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29620724, 35304602; Phenotypes: Syndromic disease MONDO:0002254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 NUP214 Esther Kinning reviewed gene: NUP214: Rating: AMBER; Mode of pathogenicity: ; Publications: 31178128, 38179855, 30758658, 3965093; Phenotypes: Encephalopathy, acute, infection-induced, susceptibility to, 9, MIM#618426; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 NUDT2 Samantha Doyle reviewed gene: NUDT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 38141063; Phenotypes: Intellectual developmental disorder with or without peripheral neuropathy, MIM#619844; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 NUAK2 Samantha Doyle reviewed gene: NUAK2: Rating: RED; Mode of pathogenicity: ; Publications: 32845958; Phenotypes: Anencephaly 2, MIM#619452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 NSUN6 Samantha Doyle reviewed gene: NSUN6: Rating: GREEN; Mode of pathogenicity: ; Publications: 37226891; Phenotypes: Intellectual developmental disorder, autosomal recessive 82, MIM#620779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 NSUN2 Samantha Doyle reviewed gene: NSUN2: Rating: RED; Mode of pathogenicity: ; Publications: 38643142, 37305761, 33002343, 36420349; Phenotypes: Intellectual developmental disorder, autosomal recessive 5, MIM#611091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 NPR3 Samantha Doyle reviewed gene: NPR3: Rating: RED; Mode of pathogenicity: ; Publications: 30032985, 10468599; Phenotypes: Boudin-Mortier syndrome, MIM#619543; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 NPNT Samantha Doyle reviewed gene: NPNT: Rating: AMBER; Mode of pathogenicity: ; Publications: 17537792, 35246978, 34049960; Phenotypes: Renal agenesis, MONDO:0018470, NPNT-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 NLRP3 Samantha Doyle reviewed gene: NLRP3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: CINCA syndrome, MIM#607115; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 NHP2 Samantha Doyle reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 18523010; Phenotypes: Dyskeratosis congenita, autosomal recessive 2, MIM#613987; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 NARS Samantha Doyle reviewed gene: NARS: Rating: RED; Mode of pathogenicity: ; Publications: 32738225, 32788587; Phenotypes: Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, MIM#619091, Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant, MIM#619092; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.15 MSTO1 Sarah Graham reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28554942, 31463572, 29339779, 28544275, 30684668; Phenotypes: Myopathy, mitochondrial, and ataxia, MIM#617675; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 MMP2 Samantha Doyle reviewed gene: MMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 16542393; Phenotypes: Multicentric osteolysis, nodulosis, and arthropathy, MIM#259600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 MMP15 Samantha Doyle reviewed gene: MMP15: Rating: AMBER; Mode of pathogenicity: ; Publications: 34988996, 33875846; Phenotypes: Cholestasis, congenital heart disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 MIR17HG Sahar Mansour reviewed gene: MIR17HG: Rating: AMBER; Mode of pathogenicity: ; Publications: 36588757, 26360630, 30672094, 33818875; Phenotypes: Feingold syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 MDFIC Sahar Mansour reviewed gene: MDFIC: Rating: GREEN; Mode of pathogenicity: ; Publications: 35235341; Phenotypes: Lymphatic malformation 12, MIM#620014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 MBOAT7 Sahar Mansour reviewed gene: MBOAT7: Rating: AMBER; Mode of pathogenicity: ; Publications: 31852446, 38407511, 37628684, 33335874, 32645526, 34979703, 38088234, 32744787, 36672789; Phenotypes: Intellectual developmental disorder, autosomal recessive 57, MIM#617188; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 MAX Sahar Mansour reviewed gene: MAX: Rating: GREEN; Mode of pathogenicity: ; Publications: 38141607; Phenotypes: Polydactyly-macrocephaly syndrome, MIM#620712; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 MAPKBP1 Sahar Mansour reviewed gene: MAPKBP1: Rating: RED; Mode of pathogenicity: ; Publications: 28089251; Phenotypes: Nephronophthisis 20, MIM#617271; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 MAP4K4 Sahar Mansour reviewed gene: MAP4K4: Rating: GREEN; Mode of pathogenicity: ; Publications: 37126546; Phenotypes: RASopathy, MONDO:0021060, MAP4K4-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 LSM11 Natalie Bibb reviewed gene: LSM11: Rating: AMBER; Mode of pathogenicity: ; Publications: 33230297; Phenotypes: Aicardi-Goutieres syndrome 8, MIM#619486; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 LRRK1 Sahar Mansour reviewed gene: LRRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32119750, 27055475, 31571209, 27829680; Phenotypes: Osteosclerotic metaphyseal dysplasia (OSMD), MIM#615198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 LRIG2 Sahar Mansour reviewed gene: LRIG2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27855655, 30885509, 23313374; Phenotypes: Urofacial syndrome 2, MIM#615112; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 LRBA Sahar Mansour reviewed gene: LRBA: Rating: RED; Mode of pathogenicity: ; Publications: 25468195, 22721650, 22608502, 22981790, 26206937; Phenotypes: Immunodeficiency, common variable, 8, with autoimmunity, MIM#614700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 LRAT Sahar Mansour reviewed gene: LRAT: Rating: RED; Mode of pathogenicity: ; Publications: 18055821, 17011878, 11381255; Phenotypes: Leber congenital amaurosis 14,MIM#613341; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 LPIN2 Sahar Mansour reviewed gene: LPIN2: Rating: RED; Mode of pathogenicity: ; Publications: 29912021; Phenotypes: Majeed syndrome, MIM#609628; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 LOX Sahar Mansour reviewed gene: LOX: Rating: GREEN; Mode of pathogenicity: ; Publications: 33866545, 31742715; Phenotypes: Aortic aneurysm, familial thoracic 10, MIM#617168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 LNPK Sahar Mansour reviewed gene: LNPK: Rating: GREEN; Mode of pathogenicity: ; Publications: 30032983, 35599435, 37794925; Phenotypes: Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, MIM#618090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 LIPT2 Sahar Mansour reviewed gene: LIPT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28757203, 39536593; Phenotypes: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM#617668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 LIPN Natalie Chandler reviewed gene: LIPN: Rating: RED; Mode of pathogenicity: ; Publications: 21439540; Phenotypes: Ichthyosis, congenital, autosomal recessive 8, MIM#613943; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 LINS1 Natalie Chandler reviewed gene: LINS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32802957, 28181389, 38563234, 32499722, 31922598, 39138116, 34450347; Phenotypes: Intellectual developmental disorder, autosomal recessive 27, MIM#614340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 LAMB2 Esther Kinning reviewed gene: LAMB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 14136829, 15372515, 17256789; Phenotypes: Pierson syndrome, MIM#609049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 LAMA5 Sarah Graham reviewed gene: LAMA5: Rating: GREEN; Mode of pathogenicity: ; Publications: 32439764, 35419533, 35584218, 36714636, 37985485; Phenotypes: Nephrotic syndrome, type 26, MIM#620049; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 KPTN Natalie Chandler reviewed gene: KPTN: Rating: AMBER; Mode of pathogenicity: ; Publications: 39083632; Phenotypes: Intellectual developmental disorder, autosomal recessive 41, MIM#615637; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 KMT2B Natalie Bibb reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 29276005, 33150406, 29697234; Phenotypes: Intellectual developmental disorder, autosomal dominant 68, MIM#619934; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 KIF5B Natalie Chandler reviewed gene: KIF5B: Rating: GREEN; Mode of pathogenicity: ; Publications: 35342932, 36018820; Phenotypes: Kyphomelic dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 KIF26A Natalie Chandler reviewed gene: KIF26A: Rating: GREEN; Mode of pathogenicity: ; Publications: 36564622; Phenotypes: Cortical dysplasia, complex, with other brain malformations 11, MIM#620156; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 KIF24 Natalie Chandler reviewed gene: KIF24: Rating: GREEN; Mode of pathogenicity: ; Publications: 35748595; Phenotypes: Skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 KDR Esther Kinning reviewed gene: KDR: Rating: AMBER; Mode of pathogenicity: ; Publications: 30232381, 34113005, 28991257; Phenotypes: Hemangioma, capillary infantile, somatic, MIM#602089; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 KDM5A Natalie Chandler reviewed gene: KDM5A: Rating: AMBER; Mode of pathogenicity: ; Publications: 33350388, 21937992; Phenotypes: El Hayek-Chahrour neurodevelopmental syndrome, MIM#620820; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.15 KDM2B Natalie Chandler reviewed gene: KDM2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 36322151; Phenotypes: Neurodevelopmental disorder MONDO#0700092, KDM2B-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 KDELR2 Natalie Chandler reviewed gene: KDELR2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33053334; Phenotypes: Osteogenesis imperfecta, type XXI, MIM#619131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 KCNT1 Natalie Chandler reviewed gene: KCNT1: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 36307859; Phenotypes: Developmental and epileptic encephalopathy 14, MIM#614959; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 KCNN3 Natalie Chandler reviewed gene: KCNN3: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 33594261, 31155282; Phenotypes: Zimmermann-Laband syndrome 3, MIM#618658; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 KCNK9 Natalie Chandler reviewed gene: KCNK9: Rating: AMBER; Mode of pathogenicity: ; Publications: 36307859; Phenotypes: Birk-Barel syndrome, MIM#612292; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Fetal anomalies v5.15 KCNK3 Natalie Chandler reviewed gene: KCNK3: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 36195757; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, KCNK3-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 KCNJ6 Natalie Chandler reviewed gene: KCNJ6: Rating: RED; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 34964963, 25620207, 36071510, 29852244; Phenotypes: Keppen-Lubinsky syndrome, MIM#614098; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 KCNC3 Natalie Canham reviewed gene: KCNC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 20301404; Phenotypes: Spinocerebellar ataxia 13, MIM#605259; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 ITCH Natalie Canham reviewed gene: ITCH: Rating: RED; Mode of pathogenicity: ; Publications: 20170897, 31091003; Phenotypes: Autoimmune disease, multisystem, with facial dysmorphism, MIM#613385; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 INTS13 Natalie Canham reviewed gene: INTS13: Rating: AMBER; Mode of pathogenicity: ; Publications: 36229431; Phenotypes: Oral-facial-digital syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 INTS11 Natalie Canham reviewed gene: INTS11: Rating: GREEN; Mode of pathogenicity: ; Publications: 39030370, 37054711; Phenotypes: Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, MIM#620428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 INPP5K Natalie Canham reviewed gene: INPP5K: Rating: AMBER; Mode of pathogenicity: ; Publications: 33193651, 31630891, 28940338, 28190459, 28190456; Phenotypes: Muscular dystrophy, congenital, with cataracts and intellectual disability, MIM#617404; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 IL1RN Natalie Canham reviewed gene: IL1RN: Rating: RED; Mode of pathogenicity: ; Publications: 19494218, 19494219; Phenotypes: Interleukin 1 receptor antagonist deficiency, MIM#612852; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 IDH2 Natalie Canham reviewed gene: IDH2: Rating: RED; Mode of pathogenicity: ; Publications: 20847235, 38782764; Phenotypes: D-2-hydroxyglutaric aciduria 2, MIM#613657; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 HECTD4 Natalie Canham reviewed gene: HECTD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 36401616; Phenotypes: Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, MIM#620250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 HEATR3 Natalie Canham reviewed gene: HEATR3: Rating: RED; Mode of pathogenicity: ; Publications: 35213692; Phenotypes: Diamond-Blackfan anemia 21, MIM#620072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 GTPBP1 Natalie Canham reviewed gene: GTPBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 38118446; Phenotypes: Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, MIM#620888; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 GPC4 Esther Kinning reviewed gene: GPC4: Rating: AMBER; Mode of pathogenicity: ; Publications: 21567928, 30982611, 4708024, 18541962, 12605449, 9001804, 17726694; Phenotypes: Keipert syndrome, MIM#301026; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v5.15 GPAA1 Natalie Canham reviewed gene: GPAA1: Rating: RED; Mode of pathogenicity: ; Publications: 29100095, 37510348, 34703884, 39152716; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15, MIM#617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 GON4L Anna de Burca reviewed gene: GON4L: Rating: GREEN; Mode of pathogenicity: ; Publications: 39500882; Phenotypes: Growth impairment, microcephaly, situs inversus, developmental delay; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 GNB2 Natalie Canham reviewed gene: GNB2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31698099, 36658419, 34183358; Phenotypes: Neurodevelopmental disorder with hypotonia and dysmorphic facies, MIM#619503; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 GNAQ Natalie Canham reviewed gene: GNAQ: Rating: RED; Mode of pathogenicity: ; Publications: 37606556, 23656586, 36263782; Phenotypes: Capillary malformations, congenital, 1, somatic, mosaic, MIM#163000, Sturge-Weber syndrome, somatic, mosaic, MIM#185300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 GNAI1 Natalie Canham reviewed gene: GNAI1: Rating: RED; Mode of pathogenicity: ; Publications: 34685729, 34819662, 39083633, 38441201, 33473207; Phenotypes: Neurodevelopmental disorder with hypotonia, impaired speech, and behavioral abnormalities, MIM#619854; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 GNA14 Natalie Bibb reviewed gene: GNA14: Rating: AMBER; Mode of pathogenicity: ; Publications: 38917801; Phenotypes: Congenital vascular tumours; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 GNA11 Natalie Bibb reviewed gene: GNA11: Rating: AMBER; Mode of pathogenicity: ; Publications: 27438697; Phenotypes: Hypocalciuric hypercalcemia, type II, MIM#145981, Hypocalcemia, autosomal dominant 2, MIM#615361; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 GLIS2 Natalie Bibb reviewed gene: GLIS2: Rating: RED; Mode of pathogenicity: ; Publications: 31676329, 17618285, 23559409; Phenotypes: Nephronophthisis 7, MIM#611498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 GDF2 Natalie Bibb reviewed gene: GDF2: Rating: AMBER; Mode of pathogenicity: ; Publications: 32618121; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 5, MIM#615506; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 GALNT3 Natalie Bibb reviewed gene: GALNT3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Tumoral calcinosis, hyperphosphatemic, familial 1, MIM#211900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 FZD6 Natalie Bibb reviewed gene: FZD6: Rating: AMBER; Mode of pathogenicity: ; Publications: 28425981, 26036949, 33082562; Phenotypes: Nail disorder, nonsyndromic congenital, 1, MIM#161050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 FZD5 Natalie Bibb reviewed gene: FZD5: Rating: RED; Mode of pathogenicity: ; Publications: 32737437, 36695497, 26908622, 33633439; Phenotypes: Microphthalmia/coloboma 11, MIM#620731; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 FUZ Natalie Bibb reviewed gene: FUZ: Rating: GREEN; Mode of pathogenicity: ; Publications: 29068549, 34719684, 38702430; Phenotypes: Skeletal ciliopathy, MONDO:0005308; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 FTO Natalie Bibb reviewed gene: FTO: Rating: GREEN; Mode of pathogenicity: ; Publications: 19559399, 19234441, 26697951, 26378117, 26740239; Phenotypes: Growth retardation, developmental delay, facial dysmorphism, MIM#612938; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 FRYL Natalie Bibb reviewed gene: FRYL: Rating: AMBER; Mode of pathogenicity: ; Publications: 38479391; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, FRYL-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 FOXP4 Natalie Bibb reviewed gene: FOXP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 33110267, 36301021; Phenotypes: Neurodevelopmental disorder, congenital diaphragmatic hernia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 FOXI3 Anna de Burca reviewed gene: FOXI3: Rating: AMBER; Mode of pathogenicity: ; Publications: 36260083, 37041148, 25655429; Phenotypes: Craniofacial microsomia 2, MIM#620444; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.15 FOSL2 Anna de Burca reviewed gene: FOSL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 36197437; Phenotypes: Aplasia cutis-enamel dysplasia syndrome, MIM#620789; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 FN1 Anna de Burca reviewed gene: FN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32200603; Phenotypes: Spondylometaphyseal dysplasia, corner fracture type, MIM#184255; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 FLCN Anna de Burca reviewed gene: FLCN: Rating: RED; Mode of pathogenicity: ; Publications: 19785621, 31266032; Phenotypes: Pneumothorax, primary spontaneous, MIM#173600, Birt-Hogg-Dube syndrome, MIM#135150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 FILIP1 Anna de Burca reviewed gene: FILIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36943452, 37163662; Phenotypes: Neuromuscular disorder, congenital, with dysmorphic facies, MIM#620775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 FGF23 Sarah Graham reviewed gene: FGF23: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypophosphatemic rickets, autosomal dominant, MIM#6193100, Tumoral calcinosis, hyperphosphatemic, familial, MIM#6211900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 FGF16 Sarah Graham reviewed gene: FGF16: Rating: AMBER; Mode of pathogenicity: ; Publications: 24706454, 23709756, 25333065; Phenotypes: Metacarpal 4-5 fusion, MIM#309630; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v5.15 FERMT3 Sarah Graham reviewed gene: FERMT3: Rating: RED; Mode of pathogenicity: ; Publications: 19064721, 19234460; Phenotypes: Leukocyte adhesion deficiency, type III, MIM#612840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 FAS Sarah Graham reviewed gene: FAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 39384643; Phenotypes: Autoimmune lymphoproliferative syndrome, type IA, MIM#601859; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.15 EXPH5 Natalie Chandler reviewed gene: EXPH5: Rating: RED; Mode of pathogenicity: ; Publications: 32176379, 27730671, 23176819, 24443915, 24005056, 27384765; Phenotypes: Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive, MIM#615028; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 ESAM Natalie Chandler reviewed gene: ESAM: Rating: GREEN; Mode of pathogenicity: ; Publications: 36996813, 39414991; Phenotypes: Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, MIM#620371; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 ERI1 Natalie Chandler reviewed gene: ERI1: Rating: GREEN; Mode of pathogenicity: ; Publications: 37352860, 36208065, 33942433, 28488351; Phenotypes: Spondyloepimetaphyseal dysplasia, Guo-Campeau type, MIM#620663, Hoxha-Aliu syndrome, MIM#620662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 ENG Natalie Chandler reviewed gene: ENG: Rating: GREEN; Mode of pathogenicity: ; Publications: 36588762, 15520401, 32954511; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 1, MIM#187300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 EMILIN1 Natalie Chandler reviewed gene: EMILIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 36351433, 14701737; Phenotypes: Arterial tortuosity-bone fragility syndrome, MIM#620908; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 EMG1 Esther Kinning reviewed gene: EMG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19463982; Phenotypes: Bowen-Conradi syndrome, MIM#211180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 EIF3B Esther Kinning reviewed gene: EIF3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Tetralogy of Fallot, bilateral cleft lip and palate, single kidney, asplenia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 EFEMP1 Esther Kinning reviewed gene: EFEMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 17872905, 32006683, 33807164, 31792352, 22489068; Phenotypes: Cutis laxa, autosomal recessive, type ID, MIM#620780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 EFCAB1 Elizabeth Scotchman reviewed gene: EFCAB1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36727596; Phenotypes: Ciliary dyskinesia, primary, 53, MIM#620642; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 DVL2 Esther Kinning reviewed gene: DVL2: Rating: AMBER; Mode of pathogenicity: ; Publications: 33599851, 35047859, 30521570; Phenotypes: Robinow syndrome, MONDO:0019978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 DRG1 Esther Kinning reviewed gene: DRG1: Rating: GREEN; Mode of pathogenicity: ; Publications: 37179472; Phenotypes: Tan-Almurshedi syndrome, MIM#620641; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 DRC1 Achchuthan Shanmugasundram reviewed gene: DRC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 39462806, 34851034, 39152285; Phenotypes: Ciliary dyskinesia, primary, 21, MIM#615294; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 DPYSL5 Achchuthan Shanmugasundram reviewed gene: DPYSL5: Rating: GREEN; Mode of pathogenicity: ; Publications: 33894126; Phenotypes: Ritscher-Schinzel syndrome 4, MIM#619435; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 DOHH Achchuthan Shanmugasundram reviewed gene: DOHH: Rating: AMBER; Mode of pathogenicity: ; Publications: 35858628; Phenotypes: Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, MIM#620066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 DLX3 Achchuthan Shanmugasundram reviewed gene: DLX3: Rating: RED; Mode of pathogenicity: ; Publications: 26104267, 26762616; Phenotypes: Amelogenesis imperfecta, type IV, MIM#104510, Trichodontoosseous syndrome, MIM#190320; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 DLG5 Achchuthan Shanmugasundram reviewed gene: DLG5: Rating: GREEN; Mode of pathogenicity: ; Publications: 30791088, 32631816; Phenotypes: Yuksel-Vogel-Bauser syndrome, MIM#620703; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 DLG4 Achchuthan Shanmugasundram reviewed gene: DLG4: Rating: AMBER; Mode of pathogenicity: ; Publications: 37347881; Phenotypes: Intellectual developmental disorder, autosomal dominant 62, MIM#618793; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 DHX30 Achchuthan Shanmugasundram reviewed gene: DHX30: Rating: GREEN; Mode of pathogenicity: ; Publications: 38366977, 34145223, 34180050, 34020708, 37094863, 36643085; Phenotypes: Neurodevelopmental disorder with variable motor and language impairment, MIM#617804; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 DDRGK1 Achchuthan Shanmugasundram reviewed gene: DDRGK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36243336, 35670300, 35377455, 28263186; Phenotypes: Spondyloepimetaphyseal dysplasia, Shohat type, MIM#602557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 DCDC2 Achchuthan Shanmugasundram reviewed gene: DCDC2: Rating: AMBER; Mode of pathogenicity: ; Publications: 36816379, 35570614, 37296768, 34155636, 36938759; Phenotypes: Sclerosing cholangitis, neonatal, MIM#617394; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 DAW1 Achchuthan Shanmugasundram reviewed gene: DAW1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36074124, 28991257; Phenotypes: Ciliary dyskinesia, primary, 52, MIM#620570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CYP2R1 Achchuthan Shanmugasundram reviewed gene: CYP2R1: Rating: RED; Mode of pathogenicity: ; Publications: 28548312, 15128933; Phenotypes: Rickets due to defect in vitamin D 25-hydroxylation deficiency, MIM#600081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CYP27B1 Achchuthan Shanmugasundram reviewed gene: CYP27B1: Rating: RED; Mode of pathogenicity: ; Publications: 27473561, 33823104, 9486994, 9415400, 34492747, 12050193; Phenotypes: Vitamin D-dependent rickets, type I, MIM#264700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CYB5R3 Achchuthan Shanmugasundram reviewed gene: CYB5R3: Rating: AMBER; Mode of pathogenicity: ; Publications: 34467556; Phenotypes: Methemoglobinemia, type II, MIM#250800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CUL3 Elizabeth Scotchman reviewed gene: CUL3: Rating: AMBER; Mode of pathogenicity: ; Publications: 31145527, 28135719, 31512373; Phenotypes: Neurodevelopmental disorder with or without autism or seizures, MIM#619239, Pseudohypoaldosteronism, type IIE, MIM#614496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 CTSC Elizabeth Scotchman reviewed gene: CTSC: Rating: RED; Mode of pathogenicity: ; Publications: 14974080, 10662808, 32601924, 10581027, 11106356; Phenotypes: Papillon-Lefevre syndrome, MIM#245000, Haim-Munk syndrome, MIM#245010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CSTA Elizabeth Scotchman reviewed gene: CSTA: Rating: RED; Mode of pathogenicity: ; Publications: 25400170, 21944047, 12890214, 22066523; Phenotypes: Peeling skin syndrome 4, MIM#607936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CSMD1 Elizabeth Scotchman reviewed gene: CSMD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 38816421; Phenotypes: Complex neurodevelopmental disorder, MONDO:0100038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CSGALNACT1 Elizabeth Scotchman reviewed gene: CSGALNACT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31325655, 31705726; Phenotypes: Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM#618870; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CRELD1 Elizabeth Scotchman reviewed gene: CRELD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 37947183; Phenotypes: Jeffries-Lakhani neurodevelopmental syndrome MIM#620771; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 COPB2 Elizabeth Scotchman reviewed gene: COPB2: Rating: AMBER; Mode of pathogenicity: ; Publications: 34450031, 29036432; Phenotypes: Microcephaly 19, primary, autosomal recessive, MIM#617800, Osteoporosis, childhood- or juvenile-onset, with developmental delay, MIM#619884; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.15 CNOT2 Elizabeth Scotchman reviewed gene: CNOT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31145527, 28135719, 31512373; Phenotypes: Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies, MIM#618608; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 CLPP Elizabeth Scotchman reviewed gene: CLPP: Rating: AMBER; Mode of pathogenicity: ; Publications: 38249302, 37932750, 34338890, 38454547; Phenotypes: Perrault syndrome 3, MIM#614129; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CLCN5 Elizabeth Scotchman reviewed gene: CLCN5: Rating: RED; Mode of pathogenicity: ; Publications: 36307859, 38267993, 37229200, 36495297; Phenotypes: Nephrolithiasis, type I, MIM#310468, Dent disease, MIM#300009, Hypophosphatemic rickets, MIM#300554; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v5.15 CHD8 Elizabeth Scotchman reviewed gene: CHD8: Rating: AMBER; Mode of pathogenicity: ; Publications: 31980904; Phenotypes: Intellectual developmental disorder with autism and macrocephaly, MIM#615032; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 CHD3 Elizabeth Scotchman reviewed gene: CHD3: Rating: AMBER; Mode of pathogenicity: ; Publications: 30397230, 32483341, 39050258, 37761804; Phenotypes: Snijders Blok-Campeau syndrome, MIM#618205; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 CEP295 Anna de Burca reviewed gene: CEP295: Rating: GREEN; Mode of pathogenicity: ; Publications: 38154379; Phenotypes: Seckel syndrome 11, MIM#620767; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CELSR3 Anna de Burca reviewed gene: CELSR3: Rating: AMBER; Mode of pathogenicity: ; Publications: 38429302; Phenotypes: Neurodevelopmental disorder, MONDO#0700092, CELSR3-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CDK10 Anna de Burca reviewed gene: CDK10: Rating: GREEN; Mode of pathogenicity: ; Publications: 28886341, 34974531; Phenotypes: Al Kaissi syndrome, MIM#617694; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CDH2 Anna de Burca reviewed gene: CDH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31585109, 31650526; Phenotypes: Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM#618929; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v5.15 CD40LG Esther Kinning reviewed gene: CD40LG: Rating: AMBER; Mode of pathogenicity: ; Publications: 24631270, 6605368, 9255191, 8993019, 10228294, 35572607, 14451053; Phenotypes: Immunodeficiency, X-linked, with hyper-IgM, MIM#308230; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v5.15 CD151 Anna de Burca reviewed gene: CD151: Rating: RED; Mode of pathogenicity: ; Publications: 35519797, 20301543; Phenotypes: Epidermolysis bullosa simplex 7, with nephropathy and deafness, MIM#609057; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CBY1 Anna de Burca reviewed gene: CBY1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33131181, 25103236, 25220153; Phenotypes: cerebellar ataxia, molar tooth sign, Joubert syndrome, Intellectual disability, polydactyly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CASP2 Anna de Burca reviewed gene: CASP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 37880421; Phenotypes: Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, MIM#620653; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CAPRIN1 Anna de Burca reviewed gene: CAPRIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 35979925; Phenotypes: Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, MIM#620782; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 CAMTA1 Anna de Burca reviewed gene: CAMTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: 38044714; Phenotypes: Cerebellar dysfunction with variable cognitive and behavioral abnormalities, MIM#614756; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 CAMK2B Anna de Burca reviewed gene: CAMK2B: Rating: AMBER; Mode of pathogenicity: ; Publications: 37734707, 29560374, 29100089; Phenotypes: Intellectual developmental disorder, autosomal dominant 54, MIM#617799; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 CACNA1S Anna de Burca reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: ; Publications: 38111203; Phenotypes: Congenital myopathy 18 due to dihydropyridine receptor defect, MIM#620246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 CACHD1 Anna de Burca reviewed gene: CACHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 38158856; Phenotypes: Syndromic complex neurodevelopmental disorder, MONDO:0800439; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 C1GALT1C1 Anna de Burca reviewed gene: C1GALT1C1: Rating: AMBER; Mode of pathogenicity: ; Publications: 36599939, 37216524; Phenotypes: Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature, MIM#301110; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v5.15 C16orf62 Vicki Harrison reviewed gene: C16orf62: Rating: GREEN; Mode of pathogenicity: ; Publications: 36113987; Phenotypes: Ritscher-Schinzel syndrome 3, MIM#619135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 BPTF Alice Gardham reviewed gene: BPTF: Rating: RED; Mode of pathogenicity: ; Publications: 36153657, 33522091; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, MIM#617755; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 AXIN1 Alice Gardham reviewed gene: AXIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 37582359; Phenotypes: Craniometadiaphyseal osteosclerosis with hip dysplasia, MIM#620558; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 ATG7 Esther Kinning reviewed gene: ATG7: Rating: GREEN; Mode of pathogenicity: ; Publications: 34161705, 16625205, 17726112; Phenotypes: Spinocerebellar ataxia, autosomal recessive 31, MIM#619422; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 ASXL3 Alice Gardham reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 38420660; Phenotypes: Bainbridge-Ropers syndrome, MIM#615485; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 ASPH Alice Gardham reviewed gene: ASPH: Rating: RED; Mode of pathogenicity: ; Publications: 11241487, 23687502, 30194805, 8749053, 24768550; Phenotypes: Traboulsi syndrome, MIM#601552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 ASCC3 Alice Gardham reviewed gene: ASCC3: Rating: AMBER; Mode of pathogenicity: ; Publications: 21937992, 35047834; Phenotypes: Intellectual developmental disorder, autosomal recessive 81, MIM#620700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 ARV1 Alice Gardham reviewed gene: ARV1: Rating: AMBER; Mode of pathogenicity: ; Publications: 36307859, 34296759; Phenotypes: Developmental and epileptic encephalopathy 38, MIM#617020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 AMOTL1 Alice Gardham reviewed gene: AMOTL1: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 36751037; Phenotypes: Orofacial clefting syndrome, MONDO:0015335, AMOTL1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 ALG5 Alice Gardham reviewed gene: ALG5: Rating: RED; Mode of pathogenicity: ; Publications: 35896117; Phenotypes: Polycystic kidney disease 7, MIM#620056; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v5.15 ALG13 Alice Gardham reviewed gene: ALG13: Rating: AMBER; Mode of pathogenicity: ; Publications: 32681751; Phenotypes: Developmental and epileptic encephalopathy 36, MIM#300884; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v5.15 ALG11 Alice Gardham reviewed gene: ALG11: Rating: AMBER; Mode of pathogenicity: ; Publications: 30770273; Phenotypes: Congenital disorder of glycosylation, type Ip, MIM#613661; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 AL117258.1 Elizabeth Scotchman reviewed gene: AL117258.1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34903892, 39513328; Phenotypes: Heterotaxy, visceral, 12, autosomal, MIM#619702; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 ADD1 Alice Gardham reviewed gene: ADD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34906466; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, ADD1-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v5.15 ADAMTS15 Alice Gardham reviewed gene: ADAMTS15: Rating: GREEN; Mode of pathogenicity: ; Publications: 35962790; Phenotypes: Arthrogryposis, distal, type 12, MIM#620545; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 ACBD6 Alice Gardham reviewed gene: ACBD6: Rating: GREEN; Mode of pathogenicity: ; Publications: 36457943, 34296759, 37951597; Phenotypes: Neurodevelopmental disorder with progressive movement abnormalities, MIM#620785; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.15 ABCD4 Alice Gardham reviewed gene: ABCD4: Rating: AMBER; Mode of pathogenicity: ; Publications: 33729671; Phenotypes: Methylmalonic aciduria and homocystinuria, cblJ type, MIM#614857; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v5.14 ROBO1 Achchuthan Shanmugasundram Phenotypes for gene: ROBO1 were changed from Neurooculorenal syndrome, OMIM:620305; Tetralogy of Fallot and septal defects to Neurooculorenal syndrome, OMIM:620305
Fetal anomalies v5.13 ZSCAN10 Achchuthan Shanmugasundram gene: ZSCAN10 was added
gene: ZSCAN10 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ZSCAN10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZSCAN10 were set to 38386308
Phenotypes for gene: ZSCAN10 were set to Otofacial neurodevelopmental syndrome, OMIM:620910
Fetal anomalies v5.13 ZRSR2 Achchuthan Shanmugasundram gene: ZRSR2 was added
gene: ZRSR2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ZRSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ZRSR2 were set to 38158857
Phenotypes for gene: ZRSR2 were set to Orofaciodigital syndrome XXI, OMIM:301132
Fetal anomalies v5.13 ZNF750 Achchuthan Shanmugasundram Source NHS GMS was added to ZNF750.
Source Expert Review Red was added to ZNF750.
Added phenotypes Seborrhea-like dermatitis with psoriasiform elements, OMIM:610227 for gene: ZNF750
Publications for gene: ZNF750 were updated from to 16751772
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 ZNF687 Achchuthan Shanmugasundram gene: ZNF687 was added
gene: ZNF687 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ZNF687 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZNF687 were set to 26849110; 29493781
Phenotypes for gene: ZNF687 were set to Paget disease of bone 6, OMIM:616833
Fetal anomalies v5.13 ZNF423 Achchuthan Shanmugasundram Source NHS GMS was added to ZNF423.
Publications for gene: ZNF423 were updated from 22863007 to 39071699; 33531950; 22863007; 32925911
Fetal anomalies v5.13 ZMYND8 Achchuthan Shanmugasundram gene: ZMYND8 was added
gene: ZMYND8 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ZMYND8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMYND8 were set to 35916866; 32530565
Phenotypes for gene: ZMYND8 were set to Neurodevelopmental disorder, MONDO:0700092, ZMYND8-related
Fetal anomalies v5.13 ZFX Achchuthan Shanmugasundram gene: ZFX was added
gene: ZFX was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ZFX 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: ZFX were set to 38325380
Phenotypes for gene: ZFX were set to Intellectual developmental disorder, X-linked syndromic 37, OMIM:301118
Fetal anomalies v5.13 XPNPEP3 Achchuthan Shanmugasundram gene: XPNPEP3 was added
gene: XPNPEP3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: XPNPEP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XPNPEP3 were set to 32660933; 20179356
Phenotypes for gene: XPNPEP3 were set to Nephronophthisis-like nephropathy 1 OMIM:613159
Fetal anomalies v5.13 WNT9B Achchuthan Shanmugasundram Source NHS GMS was added to WNT9B.
Fetal anomalies v5.13 WISP3 Achchuthan Shanmugasundram gene: WISP3 was added
gene: WISP3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: WISP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WISP3 were set to Progressive pseudorheumatoid dysplasia, OMIM:208230
Fetal anomalies v5.13 WDR44 Achchuthan Shanmugasundram gene: WDR44 was added
gene: WDR44 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: WDR44 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: WDR44 were set to 38191484
Phenotypes for gene: WDR44 were set to Ciliopathy, MONDO:0005308, WDR44-related
Fetal anomalies v5.13 WBP4 Achchuthan Shanmugasundram gene: WBP4 was added
gene: WBP4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: WBP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WBP4 were set to 37963460; 37425688
Phenotypes for gene: WBP4 were set to Neurodevelopemental disorder with hypotonia, feeding difficulties, facial dysmorphism, and brain abnormalities, OMIM:620852
Fetal anomalies v5.13 WASHC5 Achchuthan Shanmugasundram Source NHS GMS was added to WASHC5.
Source Expert Review Amber was added to WASHC5.
Added phenotypes Ritscher-Schinzel syndrome 1, OMIM:220210 for gene: WASHC5
Publications for gene: WASHC5 were updated from to 24065355
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v5.13 VHL Achchuthan Shanmugasundram gene: VHL was added
gene: VHL was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: VHL were set to von Hippel-Lindau syndrome, OMIM:193300
Fetal anomalies v5.13 UQCC2 Achchuthan Shanmugasundram Source NHS GMS was added to UQCC2.
Fetal anomalies v5.13 UNC45A Achchuthan Shanmugasundram gene: UNC45A was added
gene: UNC45A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: UNC45A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UNC45A were set to 29429573
Phenotypes for gene: UNC45A were set to Osteootohepatoenteric syndrome, OMIM:619377
Fetal anomalies v5.13 UFSP2 Achchuthan Shanmugasundram gene: UFSP2 was added
gene: UFSP2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: UFSP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UFSP2 were set to 28892125; 32755715; 33473208; 26428751
Phenotypes for gene: UFSP2 were set to Spondyloepimetaphyseal dysplasia, Di Rocco type, OMIM:617974; ?Hip dysplasia, Beukes type, OMIM:142669
Fetal anomalies v5.13 U2AF2 Achchuthan Shanmugasundram gene: U2AF2 was added
gene: U2AF2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: U2AF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: U2AF2 were set to 34112922; 37134193; 37092751; 36747105
Phenotypes for gene: U2AF2 were set to Developmental delay, dysmorphic facies, and brain anomalies OMIM:620535
Fetal anomalies v5.13 TYROBP Achchuthan Shanmugasundram gene: TYROBP was added
gene: TYROBP was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TYROBP were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, OMIM:221770
Fetal anomalies v5.13 TULP3 Achchuthan Shanmugasundram gene: TULP3 was added
gene: TULP3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TULP3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TULP3 were set to 30799240; 36276950; 36460032; 35397207; 30799239
Phenotypes for gene: TULP3 were set to Hepatorenocardiac degenerative fibrosis, OMIM:619902
Fetal anomalies v5.13 TUFM Achchuthan Shanmugasundram Source NHS GMS was added to TUFM.
Added phenotypes Combined oxidative phosphorylation deficiency 4, OMIM:610678 for gene: TUFM
Publications for gene: TUFM were updated from to 26741492; 17160893
Fetal anomalies v5.13 TTC25 Achchuthan Shanmugasundram Source NHS GMS was added to TTC25.
Added phenotypes Ciliary dyskinesia, primary, 35, OMIM:617092 for gene: TTC25
Publications for gene: TTC25 were updated from to 33746037; 34215651; 33715250; 31765523; 27486780
Fetal anomalies v5.13 TSHZ3 Achchuthan Shanmugasundram gene: TSHZ3 was added
gene: TSHZ3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TSHZ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TSHZ3 were set to 36553458; 34919690; 39420202
Phenotypes for gene: TSHZ3 were set to Congenital anomaly of kidney and urinary tract
Fetal anomalies v5.13 TRPM7 Achchuthan Shanmugasundram Source NHS GMS was added to TRPM7.
Source Expert Review Red was added to TRPM7.
Added phenotypes Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to, OMIM:105500 for gene: TRPM7
Publications for gene: TRPM7 were updated from 32503408; 31423533 to 39099563; 39621058; 35712613; 35561741; 31423533; 32503408
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 TRIT1 Achchuthan Shanmugasundram Source NHS GMS was added to TRIT1.
Publications for gene: TRIT1 were updated from 32088416 to 36049610; 32088416
Fetal anomalies v5.13 TREM2 Achchuthan Shanmugasundram gene: TREM2 was added
gene: TREM2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TREM2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TREM2 were set to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, OMIM:618193
Fetal anomalies v5.13 TONSL Achchuthan Shanmugasundram gene: TONSL was added
gene: TONSL was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TONSL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TONSL were set to 32959051; 30773278; 30773277
Phenotypes for gene: TONSL were set to Spondyloepimetaphyseal dysplasia, sponastrime type OMIM:271510
Fetal anomalies v5.13 TOMM7 Achchuthan Shanmugasundram gene: TOMM7 was added
gene: TOMM7 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TOMM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOMM7 were set to 36282599; 36299998
Phenotypes for gene: TOMM7 were set to Garg-Mishra progeroid syndrome, OMIM:620601
Fetal anomalies v5.13 TOGARAM1 Achchuthan Shanmugasundram Source NHS GMS was added to TOGARAM1.
Source Expert Review Amber was added to TOGARAM1.
Added phenotypes Joubert syndrome 37, OMIM:619185 for gene: TOGARAM1
Publications for gene: TOGARAM1 were updated from 32747439 to 32453716; 32747439
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v5.13 TNRC6B Achchuthan Shanmugasundram gene: TNRC6B was added
gene: TNRC6B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TNRC6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TNRC6B were set to 29463886; 32152250
Phenotypes for gene: TNRC6B were set to Global developmental delay with speech and behavioral abnormalities, OMIM:61924
Fetal anomalies v5.13 TNFSF11 Achchuthan Shanmugasundram gene: TNFSF11 was added
gene: TNFSF11 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TNFSF11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TNFSF11 were set to Osteopetrosis, autosomal recessive 2, OMIM:259710
Fetal anomalies v5.13 TNFRSF13B Achchuthan Shanmugasundram Source NHS GMS was added to TNFRSF13B.
Source Expert Review Red was added to TNFRSF13B.
Mode of inheritance for gene TNFRSF13B was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Immunodeficiency, common variable, 2, OMIM:240500 for gene: TNFRSF13B
Publications for gene: TNFRSF13B were updated from to 16007087; 16007086
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 THSD1 Achchuthan Shanmugasundram Source NHS GMS was added to THSD1.
Added phenotypes Lymphatic malformation 13, OMIM:620244 for gene: THSD1
Publications for gene: THSD1 were updated from 26036949; 28749478 to 26036949; 30055085; 33569873; 27895300; 28749478; 37993095
Fetal anomalies v5.13 TBR1 Achchuthan Shanmugasundram Source NHS GMS was added to TBR1.
Mode of inheritance for gene TBR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder with autism and speech delay, OMIM:606053 for gene: TBR1
Publications for gene: TBR1 were updated from to 32005960
Fetal anomalies v5.13 TAF8 Achchuthan Shanmugasundram gene: TAF8 was added
gene: TAF8 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TAF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAF8 were set to 39169228
Phenotypes for gene: TAF8 were set to Neurodevelopmental disorder with severe motor impairment, absent language, cerebral hypomyelination, and brain atrophy, OMIM:619972
Fetal anomalies v5.13 TACR3 Achchuthan Shanmugasundram Source NHS GMS was added to TACR3.
Source Expert Review Red was added to TACR3.
Added phenotypes Hypogonadotropic hypogonadism 11 with or without anosmia, OMIM:614840 for gene: TACR3
Publications for gene: TACR3 were updated from to 20332248; 19079066
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 TAC3 Achchuthan Shanmugasundram Source NHS GMS was added to TAC3.
Source Expert Review Red was added to TAC3.
Added phenotypes Hypogonadotropic hypogonadism 10 with or without anosmia, OMIM:614839 for gene: TAC3
Publications for gene: TAC3 were updated from to 20332248
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 STX5 Achchuthan Shanmugasundram gene: STX5 was added
gene: STX5 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: STX5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STX5 were set to 34711829
Phenotypes for gene: STX5 were set to ?Congenital disorder of glycosylation, type IIaa, OMIM:620454
Fetal anomalies v5.13 STAG1 Achchuthan Shanmugasundram Source NHS GMS was added to STAG1.
Mode of inheritance for gene STAG1 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
Added phenotypes Intellectual developmental disorder, autosomal dominant 47, OMIM:617635 for gene: STAG1
Publications for gene: STAG1 were updated from to 28119487; 39224759; 34440290
Fetal anomalies v5.13 SPIN4 Achchuthan Shanmugasundram gene: SPIN4 was added
gene: SPIN4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SPIN4 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: SPIN4 were set to 36927955
Phenotypes for gene: SPIN4 were set to ?Lui-Jee-Baron syndrome, OMIM:301114
Fetal anomalies v5.13 SNUPN Achchuthan Shanmugasundram gene: SNUPN was added
gene: SNUPN was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SNUPN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNUPN were set to 38413582; 38366623
Phenotypes for gene: SNUPN were set to Muscular dystrophy, limb-girdle, autosomal recessive 29, OMIM:620793
Fetal anomalies v5.13 SNRPE Achchuthan Shanmugasundram Source NHS GMS was added to SNRPE.
Source Expert Review Red was added to SNRPE.
Mode of inheritance for gene SNRPE was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Hypotrichosis 11, OMIM:615059 for gene: SNRPE
Publications for gene: SNRPE were updated from to 9621144; 33792916
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 SNF8 Achchuthan Shanmugasundram gene: SNF8 was added
gene: SNF8 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SNF8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SNF8 were set to 38423010
Phenotypes for gene: SNF8 were set to Neurodevelopmental disorder plus optic atrophy, OMIM:620784; Developmental and epileptic encephalopathy 115, OMIM:620783
Fetal anomalies v5.13 SNAP25 Achchuthan Shanmugasundram Source NHS GMS was added to SNAP25.
Mode of inheritance for gene SNAP25 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Myasthenic syndrome, congenital, 18, OMIM:616330 for gene: SNAP25
Publications for gene: SNAP25 were updated from to 33299146; 36379720
Fetal anomalies v5.13 SMPD1 Achchuthan Shanmugasundram Source NHS GMS was added to SMPD1.
Added phenotypes Niemann-Pick disease, type B, OMIM:607616; Niemann-Pick disease, type A, OMIM:257200 for gene: SMPD1
Fetal anomalies v5.13 SMOC2 Achchuthan Shanmugasundram Source NHS GMS was added to SMOC2.
Source Expert Review Red was added to SMOC2.
Added phenotypes Dentin dysplasia, type I, with microdontia and misshapen teeth, OMIM:125400 for gene: SMOC2
Publications for gene: SMOC2 were updated from to 22152679; 23317772
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 SLCO2A1 Achchuthan Shanmugasundram gene: SLCO2A1 was added
gene: SLCO2A1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SLCO2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SLCO2A1 were set to Hypertrophic osteoarthropathy, primary, autosomal dominant, OMIM:167100; PHOAR2-enteropathy syndrome, OMIM:614441
Fetal anomalies v5.13 SLC4A10 Achchuthan Shanmugasundram gene: SLC4A10 was added
gene: SLC4A10 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SLC4A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC4A10 were set to 38054405; 37459438; 31130284
Phenotypes for gene: SLC4A10 were set to Neurodevelopmental disorder with hypotonia and characteristic brain abnormalities, OMIM:620746
Fetal anomalies v5.13 SLC35A1 Achchuthan Shanmugasundram Source NHS GMS was added to SLC35A1.
Added phenotypes Congenital disorder of glycosylation, type IIf, OMIM:603585 for gene: SLC35A1
Publications for gene: SLC35A1 were updated from to 28856833; 30115659
Fetal anomalies v5.13 SLC34A3 Achchuthan Shanmugasundram gene: SLC34A3 was added
gene: SLC34A3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC34A3 were set to Hypophosphatemic rickets with hypercalciuria, OMIM:241530
Fetal anomalies v5.13 SLC34A1 Achchuthan Shanmugasundram gene: SLC34A1 was added
gene: SLC34A1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SLC34A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC34A1 were set to 9560283; 12324554; 25050900
Phenotypes for gene: SLC34A1 were set to Infantile hypercalcemia-2, OMIM:616963
Fetal anomalies v5.13 SLC30A7 Achchuthan Shanmugasundram gene: SLC30A7 was added
gene: SLC30A7 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SLC30A7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A7 were set to 36821639
Phenotypes for gene: SLC30A7 were set to Ziegler-Huang syndrome, OMIM:620501
Fetal anomalies v5.13 SLC25A4 Achchuthan Shanmugasundram Source NHS GMS was added to SLC25A4.
Mode of inheritance for gene SLC25A4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Mitochondrial DNA depletion syndrome 12A (cardiomyopathic type) AD, OMIM:617184 for gene: SLC25A4
Publications for gene: SLC25A4 were updated from to 27693233; 30013777
Fetal anomalies v5.13 SLC24A4 Achchuthan Shanmugasundram Source NHS GMS was added to SLC24A4.
Source Expert Review Red was added to SLC24A4.
Added phenotypes Amelogenesis imperfecta, type IIA5, OMIM:615887 for gene: SLC24A4
Publications for gene: SLC24A4 were updated from to 23375655; 24621671
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 SIAH1 Achchuthan Shanmugasundram gene: SIAH1 was added
gene: SIAH1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SIAH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SIAH1 were set to 32430360
Phenotypes for gene: SIAH1 were set to Buratti-Harel syndrome, OMIM:619314
Fetal anomalies v5.13 SHROOM4 Achchuthan Shanmugasundram Source NHS GMS was added to SHROOM4.
Added phenotypes Abnormal corpus callosum for gene: SHROOM4
Publications for gene: SHROOM4 were updated from 32565546 to 36379543; 32565546
Fetal anomalies v5.13 SHROOM3 Achchuthan Shanmugasundram Source NHS GMS was added to SHROOM3.
Publications for gene: SHROOM3 were updated from to 32621286
Fetal anomalies v5.13 SH3BP2 Achchuthan Shanmugasundram gene: SH3BP2 was added
gene: SH3BP2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SH3BP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SH3BP2 were set to Cherubism, OMIM:118400
Fetal anomalies v5.13 SGMS2 Achchuthan Shanmugasundram gene: SGMS2 was added
gene: SGMS2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SGMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SGMS2 were set to 32028018; 30779713
Phenotypes for gene: SGMS2 were set to Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia, OMIM:126550
Fetal anomalies v5.13 SFRP4 Achchuthan Shanmugasundram gene: SFRP4 was added
gene: SFRP4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SFRP4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SFRP4 were set to 20174869; 27117872; 28100910; 22387305; 26273529; 27355534; 22965941; 24096177
Phenotypes for gene: SFRP4 were set to Pyle disease, OMIM:265900
Fetal anomalies v5.13 SETD1A Achchuthan Shanmugasundram Source NHS GMS was added to SETD1A.
Added phenotypes Neurodevelopmental disorder with speech impairment and dysmorphic facies, OMIM:619056 for gene: SETD1A
Publications for gene: SETD1A were updated from to 37000069
Fetal anomalies v5.13 SCYL2 Achchuthan Shanmugasundram gene: SCYL2 was added
gene: SCYL2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SCYL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCYL2 were set to 39138116; 39169672
Phenotypes for gene: SCYL2 were set to Arthrogryposis multiplex congenita 4, neurogenic, with agenesis of the corpus callosum, OMIM:618766
Fetal anomalies v5.13 SASS6 Achchuthan Shanmugasundram Source NHS GMS was added to SASS6.
Added phenotypes Microcephaly 14, primary, autosomal recessive, OMIM:616402 for gene: SASS6
Publications for gene: SASS6 were updated from 24951542 to 38501757; 24951542; 30639237; 36739862
Fetal anomalies v5.13 RSPRY1 Achchuthan Shanmugasundram Source NHS GMS was added to RSPRY1.
Added phenotypes Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, OMIM:616723 for gene: RSPRY1
Publications for gene: RSPRY1 were updated from to 26365341; 38562122; 30063090
Fetal anomalies v5.13 RSPO2 Achchuthan Shanmugasundram gene: RSPO2 was added
gene: RSPO2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: RSPO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSPO2 were set to 29769720; 32457899
Phenotypes for gene: RSPO2 were set to Tetraamelia syndrome 2, OMIM:618021
Fetal anomalies v5.13 RRAS Achchuthan Shanmugasundram Source NHS GMS was added to RRAS.
Mode of pathogenicity for gene RRAS was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Noonan syndrome, MONDO:0018997 for gene: RRAS
Publications for gene: RRAS were updated from 24705357; 32815881; 34935735 to 34935735; 32815881; 24705357
Fetal anomalies v5.13 RRAGC Achchuthan Shanmugasundram gene: RRAGC was added
gene: RRAGC was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: RRAGC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RRAGC were set to 27234373; 37057673
Phenotypes for gene: RRAGC were set to Long-Olsen syndrome, OMIM:620609
Fetal anomalies v5.13 RPL13 Achchuthan Shanmugasundram gene: RPL13 was added
gene: RPL13 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: RPL13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RPL13 were set to 31630789
Phenotypes for gene: RPL13 were set to Spondyloepimetaphyseal dysplasia, Isidor-Toutain type, OMIM:618728
Fetal anomalies v5.13 ROBO2 Achchuthan Shanmugasundram gene: ROBO2 was added
gene: ROBO2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ROBO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ROBO2 were set to 19350278; 17357069; 26026792; 29194579; 34059960; 18235093; 24429398
Phenotypes for gene: ROBO2 were set to Vesicoureteral reflux 2, OMIM:610878
Fetal anomalies v5.13 ROBO1 Achchuthan Shanmugasundram Source NHS GMS was added to ROBO1.
Added phenotypes Neurooculorenal syndrome, OMIM:620305 for gene: ROBO1
Publications for gene: ROBO1 were updated from 28592524; 28485101; 30712880; 29194579; 35227688 to 35227688; 28592524; 28286008; 28485101; 30712880; 29194579
Fetal anomalies v5.13 RNU4-2 Achchuthan Shanmugasundram gene: RNU4-2 was added
gene: RNU4-2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: RNU4-2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNU4-2 were set to 38821540; 38859706; 38991538
Phenotypes for gene: RNU4-2 were set to ReNU syndrome, OMIM:620851
Fetal anomalies v5.13 RINT1 Achchuthan Shanmugasundram gene: RINT1 was added
gene: RINT1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: RINT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RINT1 were set to 31204009
Phenotypes for gene: RINT1 were set to Infantile liver failure syndrome 3 OMIM:618641
Fetal anomalies v5.13 RFWD3 Achchuthan Shanmugasundram Source NHS GMS was added to RFWD3.
Source Expert Review Amber was added to RFWD3.
Publications for gene: RFWD3 were updated from 28691929 to 2869192; 38058754; 28691929
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v5.13 RASGRP2 Achchuthan Shanmugasundram gene: RASGRP2 was added
gene: RASGRP2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: RASGRP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RASGRP2 were set to 24958846; 18709451
Phenotypes for gene: RASGRP2 were set to ?Bleeding disorder, platelet-type, 18, OMIM:615888
Fetal anomalies v5.13 RAP1B Achchuthan Shanmugasundram Source Expert Review Amber was added to RAP1B.
Mode of pathogenicity for gene RAP1B was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Publications for gene: RAP1B were updated from 26280580; 32627184 to 35451551; 37850357; 26280580; 32627184
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v5.13 RAB34 Achchuthan Shanmugasundram gene: RAB34 was added
gene: RAB34 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: RAB34 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAB34 were set to 37619988; 37384395
Phenotypes for gene: RAB34 were set to Orofaciodigital syndrome XX, OMIM:620718
Fetal anomalies v5.13 PUM1 Achchuthan Shanmugasundram gene: PUM1 was added
gene: PUM1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PUM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PUM1 were set to 30903679; 29474920; 25768905; 35386260; 31859446
Phenotypes for gene: PUM1 were set to Neurodevelopmental disorder with motor abnormalities, seizures, and facial dysmorphism, OMIM:620719
Fetal anomalies v5.13 PSMF1 Achchuthan Shanmugasundram gene: PSMF1 was added
gene: PSMF1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PSMF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PSMF1 were set to 39148840
Phenotypes for gene: PSMF1 were set to Complex neurodevelopmental disorder with motor features, MONDO:0100516, PSMF1-related
Fetal anomalies v5.13 PSMC3 Achchuthan Shanmugasundram gene: PSMC3 was added
gene: PSMC3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PSMC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSMC3 were set to 37256937
Phenotypes for gene: PSMC3 were set to neurodevelopmental disorder, MONDO:0700092
Fetal anomalies v5.13 PSMB9 Achchuthan Shanmugasundram gene: PSMB9 was added
gene: PSMB9 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: PSMB9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSMB9 were set to 33727065; 34819510
Phenotypes for gene: PSMB9 were set to Proteasome-associated autoinflammatory syndrome 6, OMIM:620796
Fetal anomalies v5.13 PRKG2 Achchuthan Shanmugasundram gene: PRKG2 was added
gene: PRKG2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PRKG2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKG2 were set to 33106379; 34680883; 34782440
Phenotypes for gene: PRKG2 were set to Acromesomelic dysplasia 4, OMIM:619636; Spondylometaphyseal dysplasia, Pagnamenta type, OMIM:619638
Fetal anomalies v5.13 PRKCSH Achchuthan Shanmugasundram gene: PRKCSH was added
gene: PRKCSH was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: PRKCSH was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKCSH were set to 12577059; 24886261; 12529853
Phenotypes for gene: PRKCSH were set to Polycystic liver disease 1 with or without kidney cysts, OMIM:174050
Fetal anomalies v5.13 PLS3 Achchuthan Shanmugasundram gene: PLS3 was added
gene: PLS3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PLS3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: PLS3 were set to 32655496; 28777485; 29736964; 37751738; 25209159; 29884797; 24088043
Phenotypes for gene: PLS3 were set to Diaphragmatic hernia 5, X-linked, OMIM:306950
Mode of pathogenicity for gene: PLS3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v5.13 PLD1 Achchuthan Shanmugasundram Publications for gene: PLD1 were updated from 27799408; 33645542; 33142350 to 33645542; 27799408; 33142350
Fetal anomalies v5.13 PKDCC Achchuthan Shanmugasundram gene: PKDCC was added
gene: PKDCC was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PKDCC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKDCC were set to 19097194; 30478137
Phenotypes for gene: PKDCC were set to Rhizomelic limb shortening with dysmorphic features, OMIM:618821
Fetal anomalies v5.13 PISD Achchuthan Shanmugasundram gene: PISD was added
gene: PISD was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PISD was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PISD were set to 30488656; 3561949; 30858161; 31263216
Phenotypes for gene: PISD were set to Liberfarb syndrome, OMIM:618889
Fetal anomalies v5.13 PIP5K1C Achchuthan Shanmugasundram gene: PIP5K1C was added
gene: PIP5K1C was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PIP5K1C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIP5K1C were set to 38491417; 17701898
Phenotypes for gene: PIP5K1C were set to Lethal congenital contractural syndrome 3, OMIM:611369
Fetal anomalies v5.13 PIGY Achchuthan Shanmugasundram Source NHS GMS was added to PIGY.
Added phenotypes Hyperphosphatasia with impaired intellectual development syndrome 6, OMIM:616809 for gene: PIGY
Publications for gene: PIGY were updated from to 26293662; 38790248
Fetal anomalies v5.13 PIGS Achchuthan Shanmugasundram Source NHS GMS was added to PIGS.
Publications for gene: PIGS were updated from 30269814 to 30269814; 37035392; 33410539
Fetal anomalies v5.13 PIGG Achchuthan Shanmugasundram Source NHS GMS was added to PIGG.
Added phenotypes Neurodevelopmental disorder with or without hypotonia, seizures, and cerebellar atrophy, OMIM:616917 for gene: PIGG
Publications for gene: PIGG were updated from to 26996948; 34113002
Fetal anomalies v5.13 PI4K2A Achchuthan Shanmugasundram gene: PI4K2A was added
gene: PI4K2A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PI4K2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4K2A were set to 35880319; 32418222; 30564627
Phenotypes for gene: PI4K2A were set to Neurodevelopmental disorder with hyperkinetic movements, seizures and structural brain abnormalities, OMIM:620732
Fetal anomalies v5.13 PHLDB1 Achchuthan Shanmugasundram gene: PHLDB1 was added
gene: PHLDB1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PHLDB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PHLDB1 were set to 36543534
Phenotypes for gene: PHLDB1 were set to Osteogenesis imperfecta, type XXIII, OMIM:620639
Fetal anomalies v5.13 PAN2 Achchuthan Shanmugasundram gene: PAN2 was added
gene: PAN2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PAN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAN2 were set to 35304602; 29620724
Phenotypes for gene: PAN2 were set to syndromic disease MONDO:0002254
Fetal anomalies v5.13 NUP214 Achchuthan Shanmugasundram gene: NUP214 was added
gene: NUP214 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: NUP214 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP214 were set to 31178128; 38179855; 30758658; 3965093
Phenotypes for gene: NUP214 were set to Encephalopathy, acute, infection-induced, susceptibility to, 9, OMIM:618426
Fetal anomalies v5.13 NUDT2 Achchuthan Shanmugasundram gene: NUDT2 was added
gene: NUDT2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: NUDT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUDT2 were set to 38141063
Phenotypes for gene: NUDT2 were set to Intellectual developmental disorder with or without peripheral neuropathy, OMIM:619844
Fetal anomalies v5.13 NUAK2 Achchuthan Shanmugasundram Source NHS GMS was added to NUAK2.
Source Expert Review Red was added to NUAK2.
Added phenotypes ?Anencephaly 2, OMIM:619452 for gene: NUAK2
Publications for gene: NUAK2 were updated from 32845958; 22689267 to 22689267; 32845958
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 NSUN6 Achchuthan Shanmugasundram gene: NSUN6 was added
gene: NSUN6 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: NSUN6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSUN6 were set to 37226891
Phenotypes for gene: NSUN6 were set to Intellectual developmental disorder, autosomal recessive 82, OMIM:620779
Fetal anomalies v5.13 NSUN2 Achchuthan Shanmugasundram Source NHS GMS was added to NSUN2.
Source Expert Review Red was added to NSUN2.
Added phenotypes Intellectual developmental disorder, autosomal recessive 5, OMIM:611091 for gene: NSUN2
Publications for gene: NSUN2 were updated from to 37305761; 36420349; 38643142; 33002343
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 NPR3 Achchuthan Shanmugasundram gene: NPR3 was added
gene: NPR3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NPR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPR3 were set to 30032985; 10468599
Phenotypes for gene: NPR3 were set to Boudin-Mortier syndrome, OMIM:619543
Fetal anomalies v5.13 NPNT Achchuthan Shanmugasundram gene: NPNT was added
gene: NPNT was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: NPNT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPNT were set to 34049960; 35246978; 17537792
Phenotypes for gene: NPNT were set to Renal agenesis, MONDO:0018470, NPNT-related
Fetal anomalies v5.13 NLRP3 Achchuthan Shanmugasundram Source Expert Review Amber was added to NLRP3.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v5.13 NHP2 Achchuthan Shanmugasundram Source NHS GMS was added to NHP2.
Added phenotypes Dyskeratosis congenita, autosomal recessive 2, OMIM:613987 for gene: NHP2
Publications for gene: NHP2 were updated from to 18523010
Fetal anomalies v5.13 NARS Achchuthan Shanmugasundram gene: NARS was added
gene: NARS was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NARS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NARS were set to 32738225; 32788587
Phenotypes for gene: NARS were set to Neurodevelopmental disorder with microcephaly, impaired language, and gait abnormalities, autosomal recessive, OMIM:619091; Neurodevelopmental disorder with microcephaly, impaired language, epilepsy, and gait abnormalities, autosomal dominant, OMIM:619092
Fetal anomalies v5.13 MSTO1 Achchuthan Shanmugasundram Source NHS GMS was added to MSTO1.
Publications for gene: MSTO1 were updated from 29339779; 28544275; 31604776; 31130378; 28554942; 37431817 to 31463572; 37431817; 28554942; 29339779; 28544275; 30684668; 31130378; 31604776
Fetal anomalies v5.13 MMP2 Achchuthan Shanmugasundram gene: MMP2 was added
gene: MMP2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: MMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMP2 were set to 16542393
Phenotypes for gene: MMP2 were set to Multicentric osteolysis, nodulosis, and arthropathy, OMIM:259600
Fetal anomalies v5.13 MMP15 Achchuthan Shanmugasundram Source NHS GMS was added to MMP15.
Publications for gene: MMP15 were updated from 33875846 to 33875846; 34988996
Fetal anomalies v5.13 MIR17HG Achchuthan Shanmugasundram Source NHS GMS was added to MIR17HG.
Publications for gene: MIR17HG were updated from to 36588757; 30672094; 26360630; 33818875
Fetal anomalies v5.13 MDFIC Achchuthan Shanmugasundram Source NHS GMS was added to MDFIC.
Fetal anomalies v5.13 MBOAT7 Achchuthan Shanmugasundram Source NHS GMS was added to MBOAT7.
Added phenotypes Intellectual developmental disorder, autosomal recessive 57, OMIM:617188 for gene: MBOAT7
Publications for gene: MBOAT7 were updated from to 36672789; 38088234; 32645526; 33335874; 38407511; 32744787; 34979703; 31852446; 37628684
Fetal anomalies v5.13 MAX Achchuthan Shanmugasundram gene: MAX was added
gene: MAX was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAX were set to 38141607
Phenotypes for gene: MAX were set to Polydactyly-macrocephaly syndrome, OMIM:620712
Fetal anomalies v5.13 MAPKBP1 Achchuthan Shanmugasundram gene: MAPKBP1 was added
gene: MAPKBP1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: MAPKBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAPKBP1 were set to 28089251
Phenotypes for gene: MAPKBP1 were set to Nephronophthisis 20, OMIM:617271
Fetal anomalies v5.13 MAP4K4 Achchuthan Shanmugasundram gene: MAP4K4 was added
gene: MAP4K4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: MAP4K4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP4K4 were set to 37126546
Phenotypes for gene: MAP4K4 were set to RASopathy, MONDO:0021060, MAP4K4-related
Fetal anomalies v5.13 LSM11 Achchuthan Shanmugasundram gene: LSM11 was added
gene: LSM11 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: LSM11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LSM11 were set to 33230297
Phenotypes for gene: LSM11 were set to ?Aicardi-Goutieres syndrome 8, OMIM:619486
Fetal anomalies v5.13 LRRK1 Achchuthan Shanmugasundram gene: LRRK1 was added
gene: LRRK1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: LRRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LRRK1 were set to 32119750; 27829680; 27055475; 31571209
Phenotypes for gene: LRRK1 were set to Osteosclerotic metaphyseal dysplasia, OMIM:615198
Fetal anomalies v5.13 LRIG2 Achchuthan Shanmugasundram Source NHS GMS was added to LRIG2.
Publications for gene: LRIG2 were updated from to 30885509; 27855655; 23313374
Fetal anomalies v5.13 LRBA Achchuthan Shanmugasundram Source NHS GMS was added to LRBA.
Source Expert Review Red was added to LRBA.
Added phenotypes Immunodeficiency, common variable, 8, with autoimmunity, OMIM:614700 for gene: LRBA
Publications for gene: LRBA were updated from to 22721650; 22981790; 25468195; 26206937; 22608502
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 LRAT Achchuthan Shanmugasundram Source NHS GMS was added to LRAT.
Source Expert Review Red was added to LRAT.
Added phenotypes Leber congenital amaurosis 14, OMIM:613341 for gene: LRAT
Publications for gene: LRAT were updated from to 18055821; 17011878; 11381255
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 LPIN2 Achchuthan Shanmugasundram gene: LPIN2 was added
gene: LPIN2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: LPIN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LPIN2 were set to 29912021
Phenotypes for gene: LPIN2 were set to Majeed syndrome, OMIM:609628
Fetal anomalies v5.13 LOX Achchuthan Shanmugasundram Source NHS GMS was added to LOX.
Added phenotypes Aortic aneurysm, familial thoracic 10, OMIM:617168 for gene: LOX
Publications for gene: LOX were updated from 31742715 to 31742715; 33866545
Fetal anomalies v5.13 LNPK Achchuthan Shanmugasundram gene: LNPK was added
gene: LNPK was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: LNPK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LNPK were set to 30032983; 35599435; 37794925
Phenotypes for gene: LNPK were set to Neurodevelopmental disorder with epilepsy and hypoplasia of the corpus callosum, OMIM:618090
Fetal anomalies v5.13 LIPT2 Achchuthan Shanmugasundram Source NHS GMS was added to LIPT2.
Added phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, OMIM:617668 for gene: LIPT2
Publications for gene: LIPT2 were updated from to 28757203; 39536593
Fetal anomalies v5.13 LIPN Achchuthan Shanmugasundram Source NHS GMS was added to LIPN.
Source Expert Review Red was added to LIPN.
Added phenotypes Ichthyosis, congenital, autosomal recessive 8, OMIM:613943 for gene: LIPN
Publications for gene: LIPN were updated from to 21439540
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 LINS1 Achchuthan Shanmugasundram Source NHS GMS was added to LINS1.
Added phenotypes Intellectual developmental disorder, autosomal recessive 27, OMIM:614340 for gene: LINS1
Publications for gene: LINS1 were updated from to 34450347; 32499722; 39138116; 32802957; 38563234; 28181389; 31922598
Fetal anomalies v5.13 LAMB2 Achchuthan Shanmugasundram gene: LAMB2 was added
gene: LAMB2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMB2 were set to 14136829; 15372515; 17256789
Phenotypes for gene: LAMB2 were set to Pierson syndrome, OMIM:609049
Fetal anomalies v5.13 LAMA5 Achchuthan Shanmugasundram gene: LAMA5 was added
gene: LAMA5 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: LAMA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LAMA5 were set to 32439764; 35584218; 35419533; 36714636; 37985485
Phenotypes for gene: LAMA5 were set to Nephrotic syndrome, type 26, OMIM:620049
Fetal anomalies v5.13 KPTN Achchuthan Shanmugasundram Source NHS GMS was added to KPTN.
Publications for gene: KPTN were updated from to 39083632
Fetal anomalies v5.13 KMT2B Achchuthan Shanmugasundram Source NHS GMS was added to KMT2B.
Mode of inheritance for gene KMT2B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder, autosomal dominant 68, OMIM:619934 for gene: KMT2B
Publications for gene: KMT2B were updated from to 29276005; 29697234; 33150406
Fetal anomalies v5.13 KIF5B Achchuthan Shanmugasundram gene: KIF5B was added
gene: KIF5B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KIF5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF5B were set to 36018820; 35342932
Phenotypes for gene: KIF5B were set to kyphomelic dysplasia, MONDO:0008881
Fetal anomalies v5.13 KIF26A Achchuthan Shanmugasundram gene: KIF26A was added
gene: KIF26A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KIF26A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF26A were set to 36564622
Phenotypes for gene: KIF26A were set to Cortical dysplasia, complex, with other brain malformations 11, OMIM:620156
Fetal anomalies v5.13 KIF24 Achchuthan Shanmugasundram gene: KIF24 was added
gene: KIF24 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KIF24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF24 were set to 35748595
Phenotypes for gene: KIF24 were set to skeletal dysplasia, MONDO:0018230
Fetal anomalies v5.13 KDR Achchuthan Shanmugasundram gene: KDR was added
gene: KDR was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KDR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDR were set to 28991257; 34113005; 30232381
Phenotypes for gene: KDR were set to Hemangioma, capillary infantile, somatic, OMIM:602089
Fetal anomalies v5.13 KDM5A Achchuthan Shanmugasundram gene: KDM5A was added
gene: KDM5A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KDM5A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: KDM5A were set to 33350388; 21937992
Phenotypes for gene: KDM5A were set to El Hayek-Chahrour neurodevelopmental syndrome, OMIM:620820
Fetal anomalies v5.13 KDM2B Achchuthan Shanmugasundram gene: KDM2B was added
gene: KDM2B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KDM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KDM2B were set to 36322151
Phenotypes for gene: KDM2B were set to Neurodevelopmental disorder MONDO:0700092, KDM2B-related
Fetal anomalies v5.13 KDELR2 Achchuthan Shanmugasundram gene: KDELR2 was added
gene: KDELR2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KDELR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KDELR2 were set to 33053334
Phenotypes for gene: KDELR2 were set to Osteogenesis imperfecta, type XXI, OMIM:619131
Fetal anomalies v5.13 KCNT1 Achchuthan Shanmugasundram Source NHS GMS was added to KCNT1.
Mode of pathogenicity for gene KCNT1 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Developmental and epileptic encephalopathy 14, OMIM:614959 for gene: KCNT1
Publications for gene: KCNT1 were updated from to 36307859
Fetal anomalies v5.13 KCNN3 Achchuthan Shanmugasundram gene: KCNN3 was added
gene: KCNN3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KCNN3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNN3 were set to 31155282; 33594261
Phenotypes for gene: KCNN3 were set to Zimmermann-Laband syndrome 3, OMIM:618658
Mode of pathogenicity for gene: KCNN3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v5.13 KCNK9 Achchuthan Shanmugasundram Source NHS GMS was added to KCNK9.
Fetal anomalies v5.13 KCNK3 Achchuthan Shanmugasundram gene: KCNK3 was added
gene: KCNK3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: KCNK3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNK3 were set to 36195757
Phenotypes for gene: KCNK3 were set to Neurodevelopmental disorder, MONDO:0700092, KCNK3-related
Mode of pathogenicity for gene: KCNK3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v5.13 KCNJ6 Achchuthan Shanmugasundram Source NHS GMS was added to KCNJ6.
Source Expert Review Red was added to KCNJ6.
Mode of inheritance for gene KCNJ6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of pathogenicity for gene KCNJ6 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes Keppen-Lubinsky syndrome, OMIM:614098 for gene: KCNJ6
Publications for gene: KCNJ6 were updated from to 34964963; 36071510; 25620207; 29852244
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 KCNC3 Achchuthan Shanmugasundram Source NHS GMS was added to KCNC3.
Mode of inheritance for gene KCNC3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Spinocerebellar ataxia 13, OMIM:605259 for gene: KCNC3
Publications for gene: KCNC3 were updated from to 20301404
Fetal anomalies v5.13 ITCH Achchuthan Shanmugasundram Source NHS GMS was added to ITCH.
Source Expert Review Red was added to ITCH.
Added phenotypes Autoimmune disease, multisystem, with facial dysmorphism, OMIM:613385 for gene: ITCH
Publications for gene: ITCH were updated from to 20170897; 31091003
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 INTS13 Achchuthan Shanmugasundram gene: INTS13 was added
gene: INTS13 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: INTS13 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS13 were set to 36229431
Phenotypes for gene: INTS13 were set to orofaciodigital syndrome, MONDO:0015375
Fetal anomalies v5.13 INTS11 Achchuthan Shanmugasundram gene: INTS11 was added
gene: INTS11 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: INTS11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS11 were set to 37054711; 39030370
Phenotypes for gene: INTS11 were set to Neurodevelopmental disorder with motor and language delay, ocular defects, and brain abnormalities, OMIM:620428
Fetal anomalies v5.13 INPP5K Achchuthan Shanmugasundram Source NHS GMS was added to INPP5K.
Added phenotypes Muscular dystrophy, congenital, with cataracts and intellectual disability, OMIM:617404 for gene: INPP5K
Publications for gene: INPP5K were updated from to 28190456; 33193651; 28940338; 28190459; 31630891
Fetal anomalies v5.13 IL1RN Achchuthan Shanmugasundram gene: IL1RN was added
gene: IL1RN was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: IL1RN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IL1RN were set to 19494219; 19494218
Phenotypes for gene: IL1RN were set to Interleukin 1 receptor antagonist deficiency, OMIM:612852
Fetal anomalies v5.13 IDH2 Achchuthan Shanmugasundram gene: IDH2 was added
gene: IDH2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: IDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: IDH2 were set to 20847235; 38782764
Phenotypes for gene: IDH2 were set to D-2-hydroxyglutaric aciduria 2, OMIM:613657
Fetal anomalies v5.13 HECTD4 Achchuthan Shanmugasundram gene: HECTD4 was added
gene: HECTD4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: HECTD4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HECTD4 were set to 36401616
Phenotypes for gene: HECTD4 were set to Neurodevelopmental disorder with seizures, spasticity, and complete or partial agenesis of the corpus callosum, OMIM:620250
Fetal anomalies v5.13 HEATR3 Achchuthan Shanmugasundram gene: HEATR3 was added
gene: HEATR3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: HEATR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HEATR3 were set to 35213692
Phenotypes for gene: HEATR3 were set to Diamond-Blackfan anemia 21, OMIM:620072
Fetal anomalies v5.13 GTPBP1 Achchuthan Shanmugasundram gene: GTPBP1 was added
gene: GTPBP1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: GTPBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTPBP1 were set to 38118446
Phenotypes for gene: GTPBP1 were set to Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, OMIM:620888
Fetal anomalies v5.13 GPC4 Achchuthan Shanmugasundram gene: GPC4 was added
gene: GPC4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: GPC4 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GPC4 were set to 9001804; 21567928; 30982611; 17726694; 12605449; 4708024; 18541962
Phenotypes for gene: GPC4 were set to Keipert syndrome, OMIM:301026
Fetal anomalies v5.13 GPAA1 Achchuthan Shanmugasundram Source NHS GMS was added to GPAA1.
Source Expert Review Red was added to GPAA1.
Added phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, OMIM:617810 for gene: GPAA1
Publications for gene: GPAA1 were updated from to 37510348; 34703884; 29100095; 39152716
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 GON4L Achchuthan Shanmugasundram gene: GON4L was added
gene: GON4L was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: GON4L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GON4L were set to 39500882
Phenotypes for gene: GON4L were set to complex neurodevelopmental disorder, MONDO:0100038
Fetal anomalies v5.13 GNB2 Achchuthan Shanmugasundram Source NHS GMS was added to GNB2.
Publications for gene: GNB2 were updated from 31698099; 34183358; 36658419 to 31698099; 36658419; 34183358
Fetal anomalies v5.13 GNAQ Achchuthan Shanmugasundram Source NHS GMS was added to GNAQ.
Source Expert Review Red was added to GNAQ.
Added phenotypes Sturge-Weber syndrome, somatic, mosaic, OMIM:185300; Capillary malformations, congenital, 1, somatic, mosaic, OMIM:163000 for gene: GNAQ
Publications for gene: GNAQ were updated from to 23656586; 37606556; 36263782
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 GNAI1 Achchuthan Shanmugasundram Source NHS GMS was added to GNAI1.
Source Expert Review Red was added to GNAI1.
Publications for gene: GNAI1 were updated from to 34819662; 38441201; 39083633; 33473207; 34685729
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 GNA14 Achchuthan Shanmugasundram Source NHS GMS was added to GNA14.
Publications for gene: GNA14 were updated from to 38917801
Fetal anomalies v5.13 GNA11 Achchuthan Shanmugasundram Source NHS GMS was added to GNA11.
Added phenotypes Hypocalciuric hypercalcemia, type II, OMIM:145981; Hypocalcemia, autosomal dominant 2, OMIM:615361 for gene: GNA11
Publications for gene: GNA11 were updated from to 27438697
Fetal anomalies v5.13 GLIS2 Achchuthan Shanmugasundram Source NHS GMS was added to GLIS2.
Source Expert Review Red was added to GLIS2.
Added phenotypes Nephronophthisis 7, OMIM:611498 for gene: GLIS2
Publications for gene: GLIS2 were updated from to 17618285; 23559409; 31676329
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 GDF2 Achchuthan Shanmugasundram Source NHS GMS was added to GDF2.
Source Expert Review Amber was added to GDF2.
Mode of inheritance for gene GDF2 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Telangiectasia, hereditary hemorrhagic, type 5, OMIM:615506 for gene: GDF2
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v5.13 GALNT3 Achchuthan Shanmugasundram gene: GALNT3 was added
gene: GALNT3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GALNT3 were set to Tumoral calcinosis, hyperphosphatemic, familial, 1, OMIM:211900
Fetal anomalies v5.13 FZD6 Achchuthan Shanmugasundram Source NHS GMS was added to FZD6.
Fetal anomalies v5.13 FZD5 Achchuthan Shanmugasundram Source NHS GMS was added to FZD5.
Source Expert Review Red was added to FZD5.
Mode of inheritance for gene FZD5 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FZD5 were updated from to 33633439; 36695497; 32737437; 26908622
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 FUZ Achchuthan Shanmugasundram Source NHS GMS was added to FUZ.
Source Expert Review Amber was added to FUZ.
Mode of inheritance for gene FUZ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Skeletal ciliopathy, MONDO:0005308 for gene: FUZ
Publications for gene: FUZ were updated from to 29068549; 34719684; 38702430
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v5.13 FTO Achchuthan Shanmugasundram Source NHS GMS was added to FTO.
Added phenotypes Growth retardation, developmental delay, facial dysmorphism, OMIM: 612938 for gene: FTO
Publications for gene: FTO were updated from 19559399; 26378117; 31130284 to 19234441; 26697951; 26378117; 19559399; 26740239; 31130284
Fetal anomalies v5.13 FRYL Achchuthan Shanmugasundram gene: FRYL was added
gene: FRYL was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FRYL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FRYL were set to 38479391
Phenotypes for gene: FRYL were set to Neurodevelopmental disorder, MONDO:0700092, FRYL-related
Fetal anomalies v5.13 FOXP4 Achchuthan Shanmugasundram Source NHS GMS was added to FOXP4.
Added phenotypes Congenital diaphragmatic hernia for gene: FOXP4
Publications for gene: FOXP4 were updated from 33110267 to 33110267; 36301021
Fetal anomalies v5.13 FOXI3 Achchuthan Shanmugasundram gene: FOXI3 was added
gene: FOXI3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FOXI3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FOXI3 were set to 25655429; 36260083; 37041148
Phenotypes for gene: FOXI3 were set to Craniofacial microsomia 2, OMIM:620444
Fetal anomalies v5.13 FOSL2 Achchuthan Shanmugasundram gene: FOSL2 was added
gene: FOSL2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FOSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOSL2 were set to 36197437
Phenotypes for gene: FOSL2 were set to Aplasia cutis-enamel dysplasia syndrome, OMIM:620789
Fetal anomalies v5.13 FN1 Achchuthan Shanmugasundram Source NHS GMS was added to FN1.
Added phenotypes Spondylometaphyseal dysplasia, corner fracture type, OMIM:184255 for gene: FN1
Publications for gene: FN1 were updated from to 32200603
Fetal anomalies v5.13 FLCN Achchuthan Shanmugasundram gene: FLCN was added
gene: FLCN was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: FLCN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FLCN were set to 19785621; 31266032
Phenotypes for gene: FLCN were set to Birt-Hogg-Dube syndrome, 135150; Pneumothorax, primary spontaneous, OMIM:173600
Fetal anomalies v5.13 FILIP1 Achchuthan Shanmugasundram gene: FILIP1 was added
gene: FILIP1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FILIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FILIP1 were set to 36943452; 37163662
Phenotypes for gene: FILIP1 were set to Neuromuscular disorder, congenital, with dysmorphic facies, OMIM:620775
Fetal anomalies v5.13 FGF23 Achchuthan Shanmugasundram gene: FGF23 was added
gene: FGF23 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: FGF23 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: FGF23 were set to Tumoral calcinosis, hyperphosphatemic, familial, OMIM:6211900; Hypophosphatemic rickets, autosomal dominant, OMIM:6193100
Fetal anomalies v5.13 FGF16 Achchuthan Shanmugasundram gene: FGF16 was added
gene: FGF16 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FGF16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: FGF16 were set to 25333065; 24706454; 23709756
Phenotypes for gene: FGF16 were set to Metacarpal 4-5 fusion, OMIM:309630
Fetal anomalies v5.13 FERMT3 Achchuthan Shanmugasundram gene: FERMT3 was added
gene: FERMT3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: FERMT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FERMT3 were set to 19064721; 19234460
Phenotypes for gene: FERMT3 were set to Leukocyte adhesion deficiency, type III OMIM:612840
Fetal anomalies v5.13 FAS Achchuthan Shanmugasundram gene: FAS was added
gene: FAS was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: FAS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: FAS were set to 39384643
Phenotypes for gene: FAS were set to Autoimmune lymphoproliferative syndrome, type IA, OMIM:601859
Fetal anomalies v5.13 EXPH5 Achchuthan Shanmugasundram Source NHS GMS was added to EXPH5.
Source Expert Review Red was added to EXPH5.
Added phenotypes Epidermolysis bullosa simplex 4, localized or generalized intermediate, autosomal recessive, OMIM:615028 for gene: EXPH5
Publications for gene: EXPH5 were updated from to 24443915; 23176819; 32176379; 24005056; 27730671; 27384765
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 ESAM Achchuthan Shanmugasundram Source NHS GMS was added to ESAM.
Publications for gene: ESAM were updated from 36996813 to 39414991; 36996813
Fetal anomalies v5.13 ERI1 Achchuthan Shanmugasundram gene: ERI1 was added
gene: ERI1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ERI1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERI1 were set to 36208065; 37352860; 28488351; 33942433
Phenotypes for gene: ERI1 were set to Spondyloepimetaphyseal dysplasia, Guo-Campeau type, OMIM:620663; Hoxha-Aliu syndrome, OMIM:620662
Fetal anomalies v5.13 ENG Achchuthan Shanmugasundram Source NHS GMS was added to ENG.
Publications for gene: ENG were updated from to 36588762; 32954511; 15520401
Fetal anomalies v5.13 EMILIN1 Achchuthan Shanmugasundram gene: EMILIN1 was added
gene: EMILIN1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: EMILIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EMILIN1 were set to 14701737; 36351433
Phenotypes for gene: EMILIN1 were set to Arterial tortuosity-bone fragility syndrome, OMIM:620908
Fetal anomalies v5.13 EMG1 Achchuthan Shanmugasundram Source NHS GMS was added to EMG1.
Fetal anomalies v5.13 EIF3B Achchuthan Shanmugasundram gene: EIF3B was added
gene: EIF3B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: EIF3B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: EIF3B were set to Single kidney; Bilateral cleft lip and palate; Tetralogy of Fallot; Asplenia
Fetal anomalies v5.13 EFEMP1 Achchuthan Shanmugasundram gene: EFEMP1 was added
gene: EFEMP1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: EFEMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFEMP1 were set to 33807164; 17872905; 22489068; 32006683; 31792352
Phenotypes for gene: EFEMP1 were set to Cutis laxa, autosomal recessive, type ID, OMIM:620780
Fetal anomalies v5.13 EFCAB1 Achchuthan Shanmugasundram gene: EFCAB1 was added
gene: EFCAB1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: EFCAB1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFCAB1 were set to 36727596
Phenotypes for gene: EFCAB1 were set to Ciliary dyskinesia, primary, 53, OMIM:620642
Fetal anomalies v5.13 DVL2 Achchuthan Shanmugasundram gene: DVL2 was added
gene: DVL2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: DVL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DVL2 were set to 35047859; 33599851; 30521570
Phenotypes for gene: DVL2 were set to Robinow syndrome, MONDO:0019978
Fetal anomalies v5.13 DRG1 Achchuthan Shanmugasundram gene: DRG1 was added
gene: DRG1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: DRG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DRG1 were set to 37179472
Phenotypes for gene: DRG1 were set to Tan-Almurshedi syndrome, OMIM:620641
Fetal anomalies v5.13 DRC1 Achchuthan Shanmugasundram Source NHS GMS was added to DRC1.
Added phenotypes Ciliary dyskinesia, primary, 21, OMIM:615294 for gene: DRC1
Publications for gene: DRC1 were updated from to 39152285; 39462806; 34851034
Fetal anomalies v5.13 DPYSL5 Achchuthan Shanmugasundram gene: DPYSL5 was added
gene: DPYSL5 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: DPYSL5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DPYSL5 were set to 33894126
Phenotypes for gene: DPYSL5 were set to Ritscher-Schinzel syndrome 4, OMIM:619435
Fetal anomalies v5.13 DOHH Achchuthan Shanmugasundram gene: DOHH was added
gene: DOHH was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: DOHH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOHH were set to 35858628
Phenotypes for gene: DOHH were set to Neurodevelopmental disorder with microcephaly, cerebral atrophy, and visual impairment, OMIM:620066
Fetal anomalies v5.13 DLX3 Achchuthan Shanmugasundram gene: DLX3 was added
gene: DLX3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: DLX3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLX3 were set to 26104267; 26762616
Phenotypes for gene: DLX3 were set to Amelogenesis imperfecta, type IV, OMIM:104510; Trichodontoosseous syndrome, OMIM:190320
Fetal anomalies v5.13 DLG5 Achchuthan Shanmugasundram gene: DLG5 was added
gene: DLG5 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: DLG5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DLG5 were set to 32631816; 30791088
Phenotypes for gene: DLG5 were set to Yuksel-Vogel-Bauser syndrome, OMIM:620703
Fetal anomalies v5.13 DLG4 Achchuthan Shanmugasundram Source NHS GMS was added to DLG4.
Mode of inheritance for gene DLG4 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder, autosomal dominant 62, OMIM:618793 for gene: DLG4
Publications for gene: DLG4 were updated from to 37347881
Fetal anomalies v5.13 DHX30 Achchuthan Shanmugasundram Source NHS GMS was added to DHX30.
Mode of inheritance for gene DHX30 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Neurodevelopmental disorder with variable motor and speech impairment, OMIM:617804 for gene: DHX30
Publications for gene: DHX30 were updated from to 34020708; 38366977; 34145223; 34180050; 37094863; 36643085
Fetal anomalies v5.13 DDRGK1 Achchuthan Shanmugasundram gene: DDRGK1 was added
gene: DDRGK1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: DDRGK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDRGK1 were set to 35670300; 35377455; 28263186; 36243336
Phenotypes for gene: DDRGK1 were set to Spondyloepimetaphyseal dysplasia, Shohat type, OMIM:602557
Fetal anomalies v5.13 DCDC2 Achchuthan Shanmugasundram Source NHS GMS was added to DCDC2.
Added phenotypes Sclerosing cholangitis, neonatal, OMIM:617394 for gene: DCDC2
Publications for gene: DCDC2 were updated from to 37296768; 36816379; 36938759; 35570614; 34155636
Fetal anomalies v5.13 DAW1 Achchuthan Shanmugasundram gene: DAW1 was added
gene: DAW1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: DAW1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DAW1 were set to 36074124; 28991257
Phenotypes for gene: DAW1 were set to Ciliary dyskinesia, primary, 52, OMIM:620570
Fetal anomalies v5.13 CYP2R1 Achchuthan Shanmugasundram gene: CYP2R1 was added
gene: CYP2R1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2R1 were set to 28548312; 15128933
Phenotypes for gene: CYP2R1 were set to Rickets due to defect in vitamin D 25-hydroxylation deficiency, OMIM:600081
Fetal anomalies v5.13 CYP27B1 Achchuthan Shanmugasundram gene: CYP27B1 was added
gene: CYP27B1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP27B1 were set to 34492747; 9486994; 27473561; 12050193; 9415400; 33823104
Phenotypes for gene: CYP27B1 were set to Vitamin D-dependent rickets, type I, OMIM:264700
Fetal anomalies v5.13 CYB5R3 Achchuthan Shanmugasundram Source NHS GMS was added to CYB5R3.
Added phenotypes Methemoglobinemia, type II, OMIM:250800 for gene: CYB5R3
Publications for gene: CYB5R3 were updated from to 34467556
Fetal anomalies v5.13 CUL3 Achchuthan Shanmugasundram gene: CUL3 was added
gene: CUL3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CUL3 were set to 31512373; 31145527; 28135719
Phenotypes for gene: CUL3 were set to Neurodevelopmental disorder with or without autism or seizures, OMIM:619239; Pseudohypoaldosteronism, type IIE, OMIM:614496
Fetal anomalies v5.13 CTSC Achchuthan Shanmugasundram gene: CTSC was added
gene: CTSC was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSC were set to 32601924; 14974080; 11106356; 10581027; 10662808
Phenotypes for gene: CTSC were set to Papillon-Lefevre syndrome, OMIM:245000; Haim-Munk syndrome, OMIM:245010
Fetal anomalies v5.13 CSTA Achchuthan Shanmugasundram Source NHS GMS was added to CSTA.
Source Expert Review Red was added to CSTA.
Added phenotypes Peeling skin syndrome 4, OMIM:607936 for gene: CSTA
Publications for gene: CSTA were updated from to 21944047; 12890214; 25400170; 22066523
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 CSMD1 Achchuthan Shanmugasundram gene: CSMD1 was added
gene: CSMD1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CSMD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSMD1 were set to 38816421
Phenotypes for gene: CSMD1 were set to Complex neurodevelopmental disorder, MONDO:0100038
Fetal anomalies v5.13 CSGALNACT1 Achchuthan Shanmugasundram gene: CSGALNACT1 was added
gene: CSGALNACT1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CSGALNACT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSGALNACT1 were set to 31705726; 31325655
Phenotypes for gene: CSGALNACT1 were set to Skeletal dysplasia, mild, with joint laxity and advanced bone age, OMIM:618870
Fetal anomalies v5.13 CRELD1 Achchuthan Shanmugasundram Source NHS GMS was added to CRELD1.
Mode of inheritance for gene CRELD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Jeffries-Lakhani neurodevelopmental syndrome, OMIM:620771 for gene: CRELD1
Publications for gene: CRELD1 were updated from to 37947183
Fetal anomalies v5.13 COPB2 Achchuthan Shanmugasundram gene: COPB2 was added
gene: COPB2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: COPB2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COPB2 were set to 34450031; 29036432
Phenotypes for gene: COPB2 were set to ?Microcephaly 19, primary, autosomal recessive, OMIM:617800; Osteoporosis, childhood- or juvenile-onset, with developmental delay, OMIM:619884
Fetal anomalies v5.13 CNOT2 Achchuthan Shanmugasundram gene: CNOT2 was added
gene: CNOT2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CNOT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CNOT2 were set to 31512373; 31145527; 28135719
Phenotypes for gene: CNOT2 were set to Intellectual developmental disorder with nasal speech, dysmorphic facies, and variable skeletal anomalies, OMIM:618608
Fetal anomalies v5.13 CLPP Achchuthan Shanmugasundram Source NHS GMS was added to CLPP.
Added phenotypes Perrault syndrome 3, OMIM:614129 for gene: CLPP
Publications for gene: CLPP were updated from to 38454547; 37932750; 34338890; 38249302
Fetal anomalies v5.13 CLCN5 Achchuthan Shanmugasundram Source NHS GMS was added to CLCN5.
Publications for gene: CLCN5 were updated from 36307859; 36495297; 37229200 to 36495297; 38267993; 36307859; 37229200
Fetal anomalies v5.13 CHD8 Achchuthan Shanmugasundram Source NHS GMS was added to CHD8.
Mode of inheritance for gene CHD8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder with autism and macrocephaly, OMIM:615032 for gene: CHD8
Publications for gene: CHD8 were updated from to 31980904
Fetal anomalies v5.13 CHD3 Achchuthan Shanmugasundram Source NHS GMS was added to CHD3.
Mode of inheritance for gene CHD3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Snijders Blok-Campeau syndrome, OMIM:618205 for gene: CHD3
Publications for gene: CHD3 were updated from to 32483341; 39050258; 30397230; 37761804
Fetal anomalies v5.13 CEP295 Achchuthan Shanmugasundram gene: CEP295 was added
gene: CEP295 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CEP295 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP295 were set to 38154379
Phenotypes for gene: CEP295 were set to Seckel syndrome 11, OMIM:620767
Fetal anomalies v5.13 CELSR3 Achchuthan Shanmugasundram gene: CELSR3 was added
gene: CELSR3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CELSR3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CELSR3 were set to 38429302
Phenotypes for gene: CELSR3 were set to Neurodevelopmental disorder, MONDO:0700092, CELSR3-related
Fetal anomalies v5.13 CDK10 Achchuthan Shanmugasundram gene: CDK10 was added
gene: CDK10 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CDK10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CDK10 were set to 34974531; 28886341
Phenotypes for gene: CDK10 were set to Al Kaissi syndrome, OMIM:617694
Fetal anomalies v5.13 CDH2 Achchuthan Shanmugasundram gene: CDH2 was added
gene: CDH2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CDH2 were set to 31650526; 31585109
Phenotypes for gene: CDH2 were set to Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929
Fetal anomalies v5.13 CD40LG Achchuthan Shanmugasundram gene: CD40LG was added
gene: CD40LG was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CD40LG were set to 8993019; 10228294; 14451053; 24631270; 35572607; 6605368; 9255191
Phenotypes for gene: CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM, OMIM:308230
Fetal anomalies v5.13 CD151 Achchuthan Shanmugasundram Source NHS GMS was added to CD151.
Source Expert Review Red was added to CD151.
Added phenotypes Epidermolysis bullosa simplex 7, with nephropathy and deafness, OMIM:609057 for gene: CD151
Publications for gene: CD151 were updated from to 35519797; 20301543
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 CBY1 Achchuthan Shanmugasundram gene: CBY1 was added
gene: CBY1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CBY1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CBY1 were set to 33131181; 25220153; 25103236
Phenotypes for gene: CBY1 were set to Intellectual disability; Joubert syndrome; Cerebellar ataxia; Polydactyly; Molar tooth sign
Fetal anomalies v5.13 CASP2 Achchuthan Shanmugasundram gene: CASP2 was added
gene: CASP2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CASP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CASP2 were set to 37880421
Phenotypes for gene: CASP2 were set to Intellectual developmental disorder, autosomal recessive 80, with variant lissencephaly, OMIM:620653
Fetal anomalies v5.13 CAPRIN1 Achchuthan Shanmugasundram gene: CAPRIN1 was added
gene: CAPRIN1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CAPRIN1 were set to 35979925
Phenotypes for gene: CAPRIN1 were set to Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, OMIM:620782
Fetal anomalies v5.13 CAMTA1 Achchuthan Shanmugasundram Source NHS GMS was added to CAMTA1.
Mode of inheritance for gene CAMTA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Cerebellar dysfunction with variable cognitive and behavioral abnormalities, OMIM:614756 for gene: CAMTA1
Publications for gene: CAMTA1 were updated from to 38044714
Fetal anomalies v5.13 CAMK2B Achchuthan Shanmugasundram Source NHS GMS was added to CAMK2B.
Mode of inheritance for gene CAMK2B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder, autosomal dominant 54, OMIM:617799 for gene: CAMK2B
Publications for gene: CAMK2B were updated from to 37734707; 29100089; 29560374
Fetal anomalies v5.13 CACNA1S Achchuthan Shanmugasundram Source NHS GMS was added to CACNA1S.
Added phenotypes Congenital myopathy 18 due to dihydropyridine receptor defect, OMIM:620246 for gene: CACNA1S
Publications for gene: CACNA1S were updated from 28012042; 33060286 to 28012042; 38111203; 33060286
Fetal anomalies v5.13 CACHD1 Achchuthan Shanmugasundram Source NHS GMS was added to CACHD1.
Fetal anomalies v5.13 C1GALT1C1 Achchuthan Shanmugasundram gene: C1GALT1C1 was added
gene: C1GALT1C1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: C1GALT1C1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: C1GALT1C1 were set to 36599939; 37216524
Phenotypes for gene: C1GALT1C1 were set to Hemolytic uremic syndrome, atypical, 8, with rhizomelic short stature, OMIM:301110
Fetal anomalies v5.13 C16orf62 Achchuthan Shanmugasundram gene: C16orf62 was added
gene: C16orf62 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: C16orf62 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C16orf62 were set to 36113987
Phenotypes for gene: C16orf62 were set to Ritscher-Schinzel syndrome 3, OMIM:619135
Fetal anomalies v5.13 BPTF Achchuthan Shanmugasundram Source NHS GMS was added to BPTF.
Source Expert Review Red was added to BPTF.
Mode of inheritance for gene BPTF was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies, OMIM:617755 for gene: BPTF
Publications for gene: BPTF were updated from to 33522091; 36153657
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 AXIN1 Achchuthan Shanmugasundram gene: AXIN1 was added
gene: AXIN1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: AXIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AXIN1 were set to 37582359
Phenotypes for gene: AXIN1 were set to Craniometadiaphyseal osteosclerosis with hip dysplasia, OMIM:620558
Fetal anomalies v5.13 ATG7 Achchuthan Shanmugasundram gene: ATG7 was added
gene: ATG7 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ATG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATG7 were set to 17726112; 16625205; 34161705
Phenotypes for gene: ATG7 were set to Spinocerebellar ataxia, autosomal recessive 31, OMIM:619422
Fetal anomalies v5.13 ASXL3 Achchuthan Shanmugasundram Source NHS GMS was added to ASXL3.
Mode of inheritance for gene ASXL3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ASXL3 were updated from 29316359; 32565546; 33820833 to 38420660; 33820833; 32565546; 29316359
Fetal anomalies v5.13 ASPH Achchuthan Shanmugasundram Source NHS GMS was added to ASPH.
Source Expert Review Red was added to ASPH.
Publications for gene: ASPH were updated from 28976722 to 30194805; 24768550; 23687502; 11241487; 8749053; 28976722
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v5.13 ASCC3 Achchuthan Shanmugasundram gene: ASCC3 was added
gene: ASCC3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ASCC3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ASCC3 were set to 35047834; 21937992
Phenotypes for gene: ASCC3 were set to Intellectual developmental disorder, autosomal recessive 81, OMIM:620700
Fetal anomalies v5.13 ARV1 Achchuthan Shanmugasundram Source NHS GMS was added to ARV1.
Publications for gene: ARV1 were updated from 34296759; 36307859 to 36307859; 34296759
Fetal anomalies v5.13 AMOTL1 Achchuthan Shanmugasundram gene: AMOTL1 was added
gene: AMOTL1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: AMOTL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AMOTL1 were set to 36751037
Phenotypes for gene: AMOTL1 were set to Orofacial clefting syndrome, MONDO:0015335, AMOTL1-related
Mode of pathogenicity for gene: AMOTL1 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v5.13 ALG5 Achchuthan Shanmugasundram gene: ALG5 was added
gene: ALG5 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ALG5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ALG5 were set to 35896117
Phenotypes for gene: ALG5 were set to Polycystic kidney disease 7, OMIM:620056
Fetal anomalies v5.13 ALG13 Achchuthan Shanmugasundram Source NHS GMS was added to ALG13.
Added phenotypes Developmental and epileptic encephalopathy 36, OMIM:300884 for gene: ALG13
Publications for gene: ALG13 were updated from to 32681751
Fetal anomalies v5.13 ALG11 Achchuthan Shanmugasundram Source NHS GMS was added to ALG11.
Added phenotypes Congenital disorder of glycosylation, type Ip, OMIM:613661 for gene: ALG11
Publications for gene: ALG11 were updated from to 30770273
Fetal anomalies v5.13 AL117258.1 Achchuthan Shanmugasundram gene: AL117258.1 was added
gene: AL117258.1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: AL117258.1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AL117258.1 were set to 34903892; 39513328
Phenotypes for gene: AL117258.1 were set to Heterotaxy, visceral, 12, autosomal, OMIM:619702
Fetal anomalies v5.13 ADD1 Achchuthan Shanmugasundram gene: ADD1 was added
gene: ADD1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ADD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ADD1 were set to 34906466
Phenotypes for gene: ADD1 were set to Neurodevelopmental disorder, MONDO:0700092, ADD1-related
Fetal anomalies v5.13 ADAMTS15 Achchuthan Shanmugasundram gene: ADAMTS15 was added
gene: ADAMTS15 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ADAMTS15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS15 were set to 35962790
Phenotypes for gene: ADAMTS15 were set to Arthrogryposis, distal, type 12, OMIM:620545
Fetal anomalies v5.13 ACBD6 Achchuthan Shanmugasundram gene: ACBD6 was added
gene: ACBD6 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ACBD6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ACBD6 were set to 37951597; 36457943; 34296759
Phenotypes for gene: ACBD6 were set to Neurodevelopmental disorder with progressive movement abnormalities, OMIM:620785
Fetal anomalies v5.13 ABCD4 Achchuthan Shanmugasundram Source NHS GMS was added to ABCD4.
Publications for gene: ABCD4 were updated from to 33729671
Fetal anomalies v5.12 EMG1 Achchuthan Shanmugasundram Phenotypes for gene: EMG1 were changed from Bowen-Conradi syndrome; Bowen-Conradi syndrome, 211180 to Bowen-Conradi syndrome, OMIM:211180
Fetal anomalies v5.11 ABCD4 Achchuthan Shanmugasundram Phenotypes for gene: ABCD4 were changed from METHYLMALONIC ACIDURIA AND HOMOCYSTINURIA, CBLJ TYPE to Methylmalonic aciduria and homocystinuria, cblJ type, OMIM:614857
Fetal anomalies v5.10 ITGAV Achchuthan Shanmugasundram Classified gene: ITGAV as Amber List (moderate evidence)
Fetal anomalies v5.10 ITGAV Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four foetuses from a single family and functional data reported. Hence, this gene can be rated amber with current evidence.
Fetal anomalies v5.10 ITGAV Achchuthan Shanmugasundram Gene: itgav has been classified as Amber List (Moderate Evidence).
Fetal anomalies v5.9 ITGAV Achchuthan Shanmugasundram Added comment: Comment on publications: PMID:39526957 paper was identified by the Genomics England Applied Machine Learning (ML) team in a Biocuration-ML project for identifying new gene-disease associations using Natural Language Processing (NLP) and Generative AI techniques.
Fetal anomalies v5.9 ITGAV Achchuthan Shanmugasundram Publications for gene: ITGAV were set to 39526957
Fetal anomalies v5.8 ITGAV Achchuthan Shanmugasundram gene: ITGAV was added
gene: ITGAV was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ITGAV was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ITGAV were set to 39526957
Phenotypes for gene: ITGAV were set to syndromic disease, MONDO:0002254
Review for gene: ITGAV was set to AMBER
Added comment: PMID:39526957 reported the identification of biallelic ITGAV variants in two unrelated patients and four foetuses from a third family. The two patients were reported with complex phenotype including global developmental delay, eye and brain abnormalities, inflammatory bowel disease and immune dysregulation. The four foetuses were reported with brain and skull abnormalities. There is also functional evidence in support of the association.

This gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Fetal anomalies v5.7 CACHD1 Achchuthan Shanmugasundram Classified gene: CACHD1 as Amber List (moderate evidence)
Fetal anomalies v5.7 CACHD1 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are two fetal cases reported from the same family, although there are six cases from four families reported in total. In addition, there is functional evidence. Hence, this gene can be rated amber with the current evidence.
Fetal anomalies v5.7 CACHD1 Achchuthan Shanmugasundram Gene: cachd1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v5.6 CACHD1 Achchuthan Shanmugasundram gene: CACHD1 was added
gene: CACHD1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CACHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CACHD1 were set to 38158856
Phenotypes for gene: CACHD1 were set to syndromic complex neurodevelopmental disorder, MONDO:0800439
Review for gene: CACHD1 was set to AMBER
Added comment: PMID:38158856 reported six affected individuals from four unrelated families with biallelic (either homozygous or compound heterozygous) CACHD1 variants (3 splice, 2 frameshift and 1 nonsense variant).

Of these, two cases from the fourth family are fetal cases. Excluding these two fatal cases, all others were affected by syndromic neurodevelopmental abnormalities, multiple organ systems featuring global impairment of psychomotor development, dysmorphic facial features, genitourinary abnormalities, oculo-auricular and congenital malformation. Cognitive impairment was reported to be mild in three cases from three different families, while the fourth case had no cognitive impairment. Psychomotor delay was reported in two unrelated cases and seizure was reported in one.

Facial dysmorphism and ear and genitourinary abnormalities were reported in the two fetal cases, while congenital malformations of the digestive tract was reported in one of them.

Functional evidence from human stem cell-derived neural models and zebrafish mutants are also available in support of the disease association.

This gene has not yet been associated with relevant phenotypes either in OMIM or in Gene2Phenotype.
Sources: Literature
Fetal anomalies v5.5 EXOSC5 Sarah Leigh reviewed gene: EXOSC5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v5.5 EXOSC5 Sarah Leigh Publications for gene: EXOSC5 were set to 32504085; 29302074; 34089229; 30950035
Fetal anomalies v5.4 EXOSC5 Sarah Leigh Publications for gene: EXOSC5 were set to 32504085; 29302074; 34089229; 30950035
Fetal anomalies v5.3 EXOSC5 Sarah Leigh Publications for gene: EXOSC5 were set to 32504085; 29302074
Fetal anomalies v5.2 RRAS Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: RRAS.
Fetal anomalies v5.2 MYBBP1A Achchuthan Shanmugasundram Phenotypes for gene: MYBBP1A were changed from to non-immune hydrops fetalis, MONDO:0009369
Fetal anomalies v5.1 MYBBP1A Achchuthan Shanmugasundram Tag Q3_24_MOI was removed from gene: MYBBP1A.
Fetal anomalies v5.1 Sarah Leigh Panel version 5.0 has been signed off on 2024-10-30
Fetal anomalies v5.0 Sarah Leigh promoted panel to version 5.0
Fetal anomalies v4.198 CENPJ Arina Puzriakova Tag new-gene-name tag was added to gene: CENPJ.
Fetal anomalies v4.198 CENPJ Arina Puzriakova commented on gene: CENPJ
Fetal anomalies v4.198 CCDC103 Arina Puzriakova Tag new-gene-name tag was added to gene: CCDC103.
Fetal anomalies v4.198 CCDC103 Arina Puzriakova commented on gene: CCDC103
Fetal anomalies v4.198 SCN4A Sarah Graham reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Classic congenital myopathy-22A, 620351, Severe fetal congenital myopathy-22B, 620369; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v4.198 SCN4A Sarah Graham Deleted their review
Fetal anomalies v4.198 SCN4A Sarah Graham reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Classic congenital myopathy-22A, 620351, Severe fetal congenital myopathy-22B, 620369; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v4.198 SIRT6 Dmitrijs Rots gene: SIRT6 was added
gene: SIRT6 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: SIRT6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SIRT6 were set to PMID: 29555651
Penetrance for gene: SIRT6 were set to Complete
Review for gene: SIRT6 was set to GREEN
Added comment: The paper describes:"Here, we demonstrate that a homozygous inactivating mutation in the histone deacetylase SIRT6 results in severe congenital anomalies and perinatal lethality in four affected fetuses. " + functional data --> enough evidence for the green rating
Sources: Literature
Fetal anomalies v4.198 XYLT1 Sarah Leigh Phenotypes for gene: XYLT1 were changed from DESBUQUOIS DYSPLASIA 2 to Desbuquois dysplasia 2, OMIM:615777; Desbuquois dysplasia 2, MONDO:0014343
Fetal anomalies v4.197 XYLT1 Sarah Leigh commented on gene: XYLT1: There is enough evidence for XYLT1_GGC to be green on this panel. At least ten patients from at least eight families have either homozygous or compound heterozygous (with other XYLT1 variants) XYLT1_GGC expansions (PMID: 22711505;30554721).
Fetal anomalies v4.197 XYLT1 Sarah Leigh reviewed gene: XYLT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v4.197 XYLT1 Sarah Leigh Publications for gene: XYLT1 were set to
Fetal anomalies v4.196 XYLT1 Sarah Leigh Tag STR tag was added to gene: XYLT1.
Fetal anomalies v4.196 LFNG Achchuthan Shanmugasundram Phenotypes for gene: LFNG were changed from SPONDYLOCOSTAL DYSOSTOSIS TYPE 3 to Spondylocostal dysostosis 3, autosomal recessive, OMIM:609813
Fetal anomalies v4.195 YIF1B Arina Puzriakova Tag gene-checked tag was added to gene: YIF1B.
Fetal anomalies v4.195 WDR37 Arina Puzriakova Tag gene-checked tag was added to gene: WDR37.
Fetal anomalies v4.195 TXNDC15 Arina Puzriakova Phenotypes for gene: TXNDC15 were changed from Meckel Gruber syndrome to Meckel syndrome 14, OMIM:619879
Fetal anomalies v4.194 TUBGCP2 Arina Puzriakova Tag gene-checked tag was added to gene: TUBGCP2.
Fetal anomalies v4.194 TRIM71 Arina Puzriakova Tag gene-checked tag was added to gene: TRIM71.
Fetal anomalies v4.194 TMEM218 Arina Puzriakova Tag gene-checked tag was added to gene: TMEM218.
Fetal anomalies v4.194 RNU12 Arina Puzriakova Tag locus-type-rna-small-nuclear tag was added to gene: RNU12.
Tag gene-checked tag was added to gene: RNU12.
Fetal anomalies v4.194 HYAL2 Arina Puzriakova Tag gene-checked tag was added to gene: HYAL2.
Fetal anomalies v4.194 FBRSL1 Arina Puzriakova Tag gene-checked tag was added to gene: FBRSL1.
Fetal anomalies v4.194 FAT1 Arina Puzriakova Tag gene-checked tag was added to gene: FAT1.
Fetal anomalies v4.194 FAM149B1 Arina Puzriakova Tag gene-checked tag was added to gene: FAM149B1.
Fetal anomalies v4.194 EXOC3L2 Arina Puzriakova Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation; Meckel-Gruber-like syndrome to Brain malformation renal syndrome, OMIM:620943; Dandy-Walker malformation; Meckel-Gruber-like syndrome
Fetal anomalies v4.193 EXOC3L2 Arina Puzriakova Tag gene-checked was removed from gene: EXOC3L2.
Fetal anomalies v4.193 ERGIC1 Arina Puzriakova Tag gene-checked tag was added to gene: ERGIC1.
Fetal anomalies v4.193 DYNC1I1 Arina Puzriakova Tag gene-checked tag was added to gene: DYNC1I1.
Fetal anomalies v4.193 CEP85L Arina Puzriakova Tag gene-checked tag was added to gene: CEP85L.
Fetal anomalies v4.193 C2orf69 Arina Puzriakova Tag gene-checked tag was added to gene: C2orf69.
Fetal anomalies v4.193 C11orf70 Arina Puzriakova Phenotypes for gene: C11orf70 were changed from PRIMARY CILIARY DYSKINESIA to Ciliary dyskinesia, primary, 38, OMIM:618063
Fetal anomalies v4.192 TLL1 Achchuthan Shanmugasundram Tag Q2_24_demote_amber was removed from gene: TLL1.
Tag Q2_24_NHS_review was removed from gene: TLL1.
Fetal anomalies v4.192 CELSR1 Achchuthan Shanmugasundram Tag Q2_24_demote_amber was removed from gene: CELSR1.
Tag Q2_24_NHS_review was removed from gene: CELSR1.
Fetal anomalies v4.192 ZNF699 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ZNF699.
Tag Q3_24_NHS_review was removed from gene: ZNF699.
Fetal anomalies v4.192 ZNF526 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ZNF526.
Tag Q3_24_NHS_review was removed from gene: ZNF526.
Fetal anomalies v4.192 ZNF462 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ZNF462.
Tag Q3_24_NHS_review was removed from gene: ZNF462.
Fetal anomalies v4.192 ZNF335 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ZNF335.
Tag Q3_24_NHS_review was removed from gene: ZNF335.
Fetal anomalies v4.192 ZMYM2 Achchuthan Shanmugasundram Tag Q3_24_NHS_review was removed from gene: ZMYM2.
Tag Q3_24_MOI was removed from gene: ZMYM2.
Fetal anomalies v4.192 ZMIZ1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ZMIZ1.
Tag Q3_24_NHS_review was removed from gene: ZMIZ1.
Fetal anomalies v4.192 WWOX Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: WWOX.
Tag Q3_24_NHS_review was removed from gene: WWOX.
Fetal anomalies v4.192 WDR4 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: WDR4.
Tag Q3_24_NHS_review was removed from gene: WDR4.
Fetal anomalies v4.192 WDR37 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: WDR37.
Tag Q3_24_NHS_review was removed from gene: WDR37.
Fetal anomalies v4.192 VPS4A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: VPS4A.
Tag Q3_24_NHS_review was removed from gene: VPS4A.
Fetal anomalies v4.192 UBA2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: UBA2.
Tag Q3_24_NHS_review was removed from gene: UBA2.
Fetal anomalies v4.192 TSEN15 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TSEN15.
Tag Q3_24_NHS_review was removed from gene: TSEN15.
Fetal anomalies v4.192 TRRAP Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TRRAP.
Tag Q3_24_NHS_review was removed from gene: TRRAP.
Fetal anomalies v4.192 TRIM71 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TRIM71.
Tag Q3_24_NHS_review was removed from gene: TRIM71.
Fetal anomalies v4.192 TP73 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TP73.
Tag Q3_24_NHS_review was removed from gene: TP73.
Fetal anomalies v4.192 TOR1AIP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TOR1AIP1.
Tag Q3_24_NHS_review was removed from gene: TOR1AIP1.
Fetal anomalies v4.192 TMTC3 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TMTC3.
Tag Q3_24_NHS_review was removed from gene: TMTC3.
Fetal anomalies v4.192 TMEM218 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: TMEM218.
Tag Q3_24_NHS_review was removed from gene: TMEM218.
Fetal anomalies v4.192 THOC2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: THOC2.
Tag Q3_24_NHS_review was removed from gene: THOC2.
Fetal anomalies v4.192 STT3A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: STT3A.
Tag Q3_24_NHS_review was removed from gene: STT3A.
Fetal anomalies v4.192 SPTB Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SPTB.
Tag Q3_24_NHS_review was removed from gene: SPTB.
Fetal anomalies v4.192 SPINT2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SPINT2.
Tag Q3_24_NHS_review was removed from gene: SPINT2.
Fetal anomalies v4.192 SPEN Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SPEN.
Tag Q3_24_NHS_review was removed from gene: SPEN.
Fetal anomalies v4.192 SOX11 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SOX11.
Tag Q3_24_NHS_review was removed from gene: SOX11.
Fetal anomalies v4.192 SMARCD1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SMARCD1.
Tag Q3_24_NHS_review was removed from gene: SMARCD1.
Fetal anomalies v4.192 SMAD2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SMAD2.
Tag Q3_24_NHS_review was removed from gene: SMAD2.
Fetal anomalies v4.192 SKIV2L Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SKIV2L.
Tag Q3_24_NHS_review was removed from gene: SKIV2L.
Fetal anomalies v4.192 SIN3A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SIN3A.
Tag Q3_24_NHS_review was removed from gene: SIN3A.
Fetal anomalies v4.192 SHMT2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SHMT2.
Tag Q3_24_NHS_review was removed from gene: SHMT2.
Fetal anomalies v4.192 SEMA3A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SEMA3A.
Tag Q3_24_NHS_review was removed from gene: SEMA3A.
Fetal anomalies v4.192 SCN5A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SCN5A.
Tag Q3_24_NHS_review was removed from gene: SCN5A.
Fetal anomalies v4.192 SCN3A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SCN3A.
Tag Q3_24_NHS_review was removed from gene: SCN3A.
Fetal anomalies v4.192 SCAF4 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: SCAF4.
Tag Q3_24_NHS_review was removed from gene: SCAF4.
Fetal anomalies v4.192 RPL15 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RPL15.
Tag Q3_24_NHS_review was removed from gene: RPL15.
Fetal anomalies v4.192 RNU12 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RNU12.
Tag Q3_24_NHS_review was removed from gene: RNU12.
Fetal anomalies v4.192 RNF125 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RNF125.
Tag Q3_24_NHS_review was removed from gene: RNF125.
Fetal anomalies v4.192 RNF113A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RNF113A.
Tag Q3_24_NHS_review was removed from gene: RNF113A.
Fetal anomalies v4.192 RLIM Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RLIM.
Tag Q3_24_NHS_review was removed from gene: RLIM.
Fetal anomalies v4.192 RBP4 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RBP4.
Tag Q3_24_NHS_review was removed from gene: RBP4.
Fetal anomalies v4.192 RAD51 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RAD51.
Tag Q3_24_NHS_review was removed from gene: RAD51.
Fetal anomalies v4.192 RAD50 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: RAD50.
Tag Q3_24_NHS_review was removed from gene: RAD50.
Fetal anomalies v4.192 PXDN Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PXDN.
Tag Q3_24_NHS_review was removed from gene: PXDN.
Fetal anomalies v4.192 PTPN23 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PTPN23.
Tag Q3_24_NHS_review was removed from gene: PTPN23.
Fetal anomalies v4.192 PRR12 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PRR12.
Tag Q3_24_NHS_review was removed from gene: PRR12.
Fetal anomalies v4.192 PRF1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PRF1.
Tag Q3_24_NHS_review was removed from gene: PRF1.
Fetal anomalies v4.192 PPP3CA Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PPP3CA.
Tag Q3_24_NHS_review was removed from gene: PPP3CA.
Fetal anomalies v4.192 PPP2R3C Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PPP2R3C.
Tag Q3_24_NHS_review was removed from gene: PPP2R3C.
Fetal anomalies v4.192 PPP2CA Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PPP2CA.
Tag Q3_24_NHS_review was removed from gene: PPP2CA.
Fetal anomalies v4.192 PPIL1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PPIL1.
Tag Q3_24_NHS_review was removed from gene: PPIL1.
Fetal anomalies v4.192 PLPBP Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PLPBP.
Tag Q3_24_NHS_review was removed from gene: PLPBP.
Fetal anomalies v4.192 PLEC Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PLEC.
Tag Q3_24_NHS_review was removed from gene: PLEC.
Fetal anomalies v4.192 PIGH Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PIGH.
Tag Q3_24_NHS_review was removed from gene: PIGH.
Fetal anomalies v4.192 PIDD1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PIDD1.
Tag Q3_24_NHS_review was removed from gene: PIDD1.
Fetal anomalies v4.192 PHF21A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PHF21A.
Tag Q3_24_NHS_review was removed from gene: PHF21A.
Fetal anomalies v4.192 PGAP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PGAP1.
Tag Q3_24_NHS_review was removed from gene: PGAP1.
Fetal anomalies v4.192 PDE3A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PDE3A.
Tag Q3_24_NHS_review was removed from gene: PDE3A.
Fetal anomalies v4.192 PCDH12 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PCDH12.
Tag Q3_24_NHS_review was removed from gene: PCDH12.
Fetal anomalies v4.192 PAX1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PAX1.
Tag Q3_24_NHS_review was removed from gene: PAX1.
Fetal anomalies v4.192 PACS2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PACS2.
Tag Q3_24_NHS_review was removed from gene: PACS2.
Fetal anomalies v4.192 PACS1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: PACS1.
Tag Q3_24_NHS_review was removed from gene: PACS1.
Fetal anomalies v4.192 OTUD6B Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: OTUD6B.
Tag Q3_24_NHS_review was removed from gene: OTUD6B.
Fetal anomalies v4.192 NUP188 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: NUP188.
Tag Q3_24_NHS_review was removed from gene: NUP188.
Fetal anomalies v4.192 NSRP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: NSRP1.
Tag Q3_24_NHS_review was removed from gene: NSRP1.
Fetal anomalies v4.192 NONO Achchuthan Shanmugasundram Tag watchlist was removed from gene: NONO.
Tag Q3_24_promote_green was removed from gene: NONO.
Tag Q3_24_NHS_review was removed from gene: NONO.
Fetal anomalies v4.192 NFIB Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: NFIB.
Tag Q3_24_NHS_review was removed from gene: NFIB.
Fetal anomalies v4.192 NFIA Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: NFIA.
Tag Q3_24_NHS_review was removed from gene: NFIA.
Fetal anomalies v4.192 MYOD1 Achchuthan Shanmugasundram Tag watchlist was removed from gene: MYOD1.
Tag Q3_24_promote_green was removed from gene: MYOD1.
Tag Q3_24_NHS_review was removed from gene: MYOD1.
Fetal anomalies v4.192 MPDZ Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MPDZ.
Tag Q3_24_NHS_review was removed from gene: MPDZ.
Fetal anomalies v4.192 MINPP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MINPP1.
Tag Q3_24_NHS_review was removed from gene: MINPP1.
Fetal anomalies v4.192 MED27 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MED27.
Tag Q3_24_NHS_review was removed from gene: MED27.
Fetal anomalies v4.192 MED25 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MED25.
Tag Q3_24_NHS_review was removed from gene: MED25.
Fetal anomalies v4.192 MCIDAS Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MCIDAS.
Tag Q3_24_NHS_review was removed from gene: MCIDAS.
Fetal anomalies v4.192 MAPKAPK5 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MAPKAPK5.
Tag Q3_24_NHS_review was removed from gene: MAPKAPK5.
Fetal anomalies v4.192 MAN2C1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MAN2C1.
Tag Q3_24_NHS_review was removed from gene: MAN2C1.
Fetal anomalies v4.192 MAB21L1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: MAB21L1.
Tag Q3_24_NHS_review was removed from gene: MAB21L1.
Fetal anomalies v4.192 LTBP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: LTBP1.
Tag Q3_24_NHS_review was removed from gene: LTBP1.
Fetal anomalies v4.192 KIF4A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: KIF4A.
Tag Q3_24_NHS_review was removed from gene: KIF4A.
Fetal anomalies v4.192 KIDINS220 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: KIDINS220.
Tag Q3_24_NHS_review was removed from gene: KIDINS220.
Tag to_be_confirmed_NHSE was removed from gene: KIDINS220.
Fetal anomalies v4.192 JAM3 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: JAM3.
Tag Q3_24_NHS_review was removed from gene: JAM3.
Fetal anomalies v4.192 IRX5 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: IRX5.
Tag Q3_24_NHS_review was removed from gene: IRX5.
Fetal anomalies v4.192 INTS1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: INTS1.
Tag Q3_24_NHS_review was removed from gene: INTS1.
Fetal anomalies v4.192 IFT74 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: IFT74.
Tag Q3_24_NHS_review was removed from gene: IFT74.
Fetal anomalies v4.192 HYAL2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HYAL2.
Tag Q3_24_NHS_review was removed from gene: HYAL2.
Fetal anomalies v4.192 HSPA9 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HSPA9.
Tag Q3_24_NHS_review was removed from gene: HSPA9.
Fetal anomalies v4.192 HS2ST1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HS2ST1.
Tag Q3_24_NHS_review was removed from gene: HS2ST1.
Fetal anomalies v4.192 HNRNPH2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HNRNPH2.
Tag Q3_24_NHS_review was removed from gene: HNRNPH2.
Fetal anomalies v4.192 HMX1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HMX1.
Tag Q3_24_NHS_review was removed from gene: HMX1.
Fetal anomalies v4.192 HK1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HK1.
Tag Q3_24_NHS_review was removed from gene: HK1.
Fetal anomalies v4.192 HHAT Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: HHAT.
Tag Q3_24_NHS_review was removed from gene: HHAT.
Fetal anomalies v4.192 H3F3A Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: H3F3A.
Tag Q3_24_NHS_review was removed from gene: H3F3A.
Fetal anomalies v4.192 GTPBP2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GTPBP2.
Tag Q3_24_NHS_review was removed from gene: GTPBP2.
Fetal anomalies v4.192 GRM7 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GRM7.
Tag Q3_24_NHS_review was removed from gene: GRM7.
Fetal anomalies v4.192 GPX4 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GPX4.
Tag Q3_24_NHS_review was removed from gene: GPX4.
Fetal anomalies v4.192 GHR Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GHR.
Tag Q3_24_NHS_review was removed from gene: GHR.
Fetal anomalies v4.192 GFRA1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GFRA1.
Tag Q3_24_NHS_review was removed from gene: GFRA1.
Fetal anomalies v4.192 GDF11 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GDF11.
Tag Q3_24_NHS_review was removed from gene: GDF11.
Fetal anomalies v4.192 GATA1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: GATA1.
Tag Q3_24_NHS_review was removed from gene: GATA1.
Fetal anomalies v4.192 FRA10AC1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: FRA10AC1.
Tag Q3_24_NHS_review was removed from gene: FRA10AC1.
Fetal anomalies v4.192 FOXJ1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: FOXJ1.
Tag Q3_24_NHS_review was removed from gene: FOXJ1.
Fetal anomalies v4.192 FBRSL1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: FBRSL1.
Tag Q3_24_NHS_review was removed from gene: FBRSL1.
Fetal anomalies v4.192 FAT1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: FAT1.
Tag Q3_24_NHS_review was removed from gene: FAT1.
Fetal anomalies v4.192 FAM149B1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: FAM149B1.
Tag Q3_24_NHS_review was removed from gene: FAM149B1.
Fetal anomalies v4.192 EXOC7 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: EXOC7.
Tag Q3_24_NHS_review was removed from gene: EXOC7.
Fetal anomalies v4.192 ERBB3 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ERBB3.
Tag Q3_24_NHS_review was removed from gene: ERBB3.
Fetal anomalies v4.192 ERGIC1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ERGIC1.
Tag Q3_24_NHS_review was removed from gene: ERGIC1.
Fetal anomalies v4.192 EN1 Achchuthan Shanmugasundram Tag watchlist was removed from gene: EN1.
Tag Q3_24_promote_green was removed from gene: EN1.
Tag Q3_24_NHS_review was removed from gene: EN1.
Fetal anomalies v4.192 EFEMP2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: EFEMP2.
Tag Q3_24_NHS_review was removed from gene: EFEMP2.
Fetal anomalies v4.192 EEF2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: EEF2.
Tag Q3_24_NHS_review was removed from gene: EEF2.
Fetal anomalies v4.192 DYNC1I2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DYNC1I2.
Tag Q3_24_NHS_review was removed from gene: DYNC1I2.
Fetal anomalies v4.192 DYNC1I1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DYNC1I1.
Tag Q3_24_NHS_review was removed from gene: DYNC1I1.
Fetal anomalies v4.192 DPF2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DPF2.
Tag Q3_24_NHS_review was removed from gene: DPF2.
Fetal anomalies v4.192 DLL1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DLL1.
Tag Q3_24_NHS_review was removed from gene: DLL1.
Fetal anomalies v4.192 DEPDC5 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DEPDC5.
Tag Q3_24_NHS_review was removed from gene: DEPDC5.
Fetal anomalies v4.192 DCC Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: DCC.
Tag Q3_24_NHS_review was removed from gene: DCC.
Fetal anomalies v4.192 CYBB Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CYBB.
Tag Q3_24_NHS_review was removed from gene: CYBB.
Fetal anomalies v4.192 CTNNA2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CTNNA2.
Tag Q3_24_NHS_review was removed from gene: CTNNA2.
Fetal anomalies v4.192 COA7 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: COA7.
Tag Q3_24_NHS_review was removed from gene: COA7.
Fetal anomalies v4.192 CLTC Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CLTC.
Tag Q3_24_NHS_review was removed from gene: CLTC.
Fetal anomalies v4.192 CFAP52 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CFAP52.
Tag Q3_24_NHS_review was removed from gene: CFAP52.
Fetal anomalies v4.192 CFAP45 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CFAP45.
Tag Q3_24_NHS_review was removed from gene: CFAP45.
Fetal anomalies v4.192 CEP85L Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CEP85L.
Tag Q3_23_NHS_review was removed from gene: CEP85L.
Fetal anomalies v4.192 CCDC22 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: CCDC22.
Tag Q3_24_NHS_review was removed from gene: CCDC22.
Fetal anomalies v4.192 C2orf69 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: C2orf69.
Tag Q3_24_NHS_review was removed from gene: C2orf69.
Fetal anomalies v4.192 C12orf57 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: C12orf57.
Tag Q3_24_NHS_review was removed from gene: C12orf57.
Fetal anomalies v4.192 BRD4 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: BRD4.
Tag Q3_24_NHS_review was removed from gene: BRD4.
Fetal anomalies v4.192 BRCA1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: BRCA1.
Tag Q3_24_NHS_review was removed from gene: BRCA1.
Fetal anomalies v4.192 ATN1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ATN1.
Tag Q3_24_NHS_review was removed from gene: ATN1.
Fetal anomalies v4.192 ATAD1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ATAD1.
Tag Q3_24_NHS_review was removed from gene: ATAD1.
Fetal anomalies v4.192 ARL3 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ARL3.
Tag Q3_24_NHS_review was removed from gene: ARL3.
Fetal anomalies v4.192 ARID2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ARID2.
Tag Q3_24_NHS_review was removed from gene: ARID2.
Fetal anomalies v4.192 APC2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: APC2.
Tag Q3_24_NHS_review was removed from gene: APC2.
Fetal anomalies v4.192 AP4S1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: AP4S1.
Tag Q3_24_NHS_review was removed from gene: AP4S1.
Fetal anomalies v4.192 AP4B1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: AP4B1.
Tag Q3_24_NHS_review was removed from gene: AP4B1.
Fetal anomalies v4.192 ANGPT2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ANGPT2.
Tag Q3_24_NHS_review was removed from gene: ANGPT2.
Fetal anomalies v4.192 ALPK3 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ALPK3.
Tag Q3_24_NHS_review was removed from gene: ALPK3.
Fetal anomalies v4.192 ALG14 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ALG14.
Tag Q3_24_NHS_review was removed from gene: ALG14.
Fetal anomalies v4.192 ALDH1A2 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ALDH1A2.
Tag Q3_24_NHS_review was removed from gene: ALDH1A2.
Fetal anomalies v4.192 AFF3 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: AFF3.
Tag Q3_24_NHS_review was removed from gene: AFF3.
Fetal anomalies v4.192 ADCY6 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ADCY6.
Tag Q3_24_NHS_review was removed from gene: ADCY6.
Fetal anomalies v4.192 ACVRL1 Achchuthan Shanmugasundram Tag Q3_24_promote_green was removed from gene: ACVRL1.
Tag Q3_24_NHS_review was removed from gene: ACVRL1.
Fetal anomalies v4.192 ZNF699 Achchuthan Shanmugasundram edited their review of gene: ZNF699: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ZNF526 Achchuthan Shanmugasundram edited their review of gene: ZNF526: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ZNF462 Achchuthan Shanmugasundram edited their review of gene: ZNF462: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 ZNF335 Achchuthan Shanmugasundram edited their review of gene: ZNF335: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ZMYM2 Achchuthan Shanmugasundram edited their review of gene: ZMYM2: Added comment: The mode of inheritance of this gene has been updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 ZMIZ1 Achchuthan Shanmugasundram edited their review of gene: ZMIZ1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 WWOX Achchuthan Shanmugasundram edited their review of gene: WWOX: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 WDR4 Achchuthan Shanmugasundram edited their review of gene: WDR4: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 WDR37 Achchuthan Shanmugasundram edited their review of gene: WDR37: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 VPS4A Achchuthan Shanmugasundram commented on gene: VPS4A: 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.
Fetal anomalies v4.192 UBR7 Achchuthan Shanmugasundram edited their review of gene: UBR7: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 UBA2 Achchuthan Shanmugasundram edited their review of gene: UBA2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 TSEN15 Achchuthan Shanmugasundram edited their review of gene: TSEN15: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 TRRAP Achchuthan Shanmugasundram edited their review of gene: TRRAP: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 TRIM71 Achchuthan Shanmugasundram edited their review of gene: TRIM71: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 TP73 Achchuthan Shanmugasundram edited their review of gene: TP73: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 TOR1AIP1 Achchuthan Shanmugasundram edited their review of gene: TOR1AIP1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 TMTC3 Achchuthan Shanmugasundram edited their review of gene: TMTC3: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 TMEM218 Achchuthan Shanmugasundram edited their review of gene: TMEM218: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 TLL1 Achchuthan Shanmugasundram edited their review of gene: TLL1: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: AMBER
Fetal anomalies v4.192 THOC2 Achchuthan Shanmugasundram commented on gene: THOC2: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 STT3A Achchuthan Shanmugasundram edited their review of gene: STT3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.192 SPTB Achchuthan Shanmugasundram edited their review of gene: SPTB: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.192 SPINT2 Achchuthan Shanmugasundram edited their review of gene: SPINT2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 SPEN Achchuthan Shanmugasundram edited their review of gene: SPEN: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 SOX11 Achchuthan Shanmugasundram edited their review of gene: SOX11: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 SMARCD1 Achchuthan Shanmugasundram edited their review of gene: SMARCD1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 SMAD2 Achchuthan Shanmugasundram edited their review of gene: SMAD2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 SKIV2L Achchuthan Shanmugasundram edited their review of gene: SKIV2L: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 SIN3A Achchuthan Shanmugasundram edited their review of gene: SIN3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 SHMT2 Achchuthan Shanmugasundram edited their review of gene: SHMT2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 SEMA3A Achchuthan Shanmugasundram edited their review of gene: SEMA3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 SCN5A Achchuthan Shanmugasundram commented on gene: SCN5A: 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.
Fetal anomalies v4.192 SCN3A Achchuthan Shanmugasundram edited their review of gene: SCN3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 SCAF4 Achchuthan Shanmugasundram edited their review of gene: SCAF4: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 RPL15 Achchuthan Shanmugasundram edited their review of gene: RPL15: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 RNU12 Achchuthan Shanmugasundram edited their review of gene: RNU12: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 RNF125 Achchuthan Shanmugasundram edited their review of gene: RNF125: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 RNF113A Achchuthan Shanmugasundram edited their review of gene: RNF113A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.192 RLIM Achchuthan Shanmugasundram edited their review of gene: RLIM: Added comment: The rating of this gene has been updated to green and the mode of inheritance 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.; 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)
Fetal anomalies v4.192 RBP4 Achchuthan Shanmugasundram commented on gene: RBP4: 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.
Fetal anomalies v4.192 RAD51 Achchuthan Shanmugasundram edited their review of gene: RAD51: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 RAD50 Achchuthan Shanmugasundram edited their review of gene: RAD50: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PXDN Achchuthan Shanmugasundram edited their review of gene: PXDN: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PTPN23 Achchuthan Shanmugasundram edited their review of gene: PTPN23: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PRR12 Achchuthan Shanmugasundram edited their review of gene: PRR12: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 PRF1 Achchuthan Shanmugasundram edited their review of gene: PRF1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PPP3CA Achchuthan Shanmugasundram edited their review of gene: PPP3CA: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 PPP2R3C Achchuthan Shanmugasundram edited their review of gene: PPP2R3C: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PPP2CA Achchuthan Shanmugasundram edited their review of gene: PPP2CA: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 PPIL1 Achchuthan Shanmugasundram edited their review of gene: PPIL1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PLPBP Achchuthan Shanmugasundram edited their review of gene: PLPBP: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PLEC Achchuthan Shanmugasundram edited their review of gene: PLEC: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.192 PIGH Achchuthan Shanmugasundram edited their review of gene: PIGH: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PIDD1 Achchuthan Shanmugasundram edited their review of gene: PIDD1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PHF21A Achchuthan Shanmugasundram edited their review of gene: PHF21A: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 PGAP1 Achchuthan Shanmugasundram edited their review of gene: PGAP1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PDE3A Achchuthan Shanmugasundram edited their review of gene: PDE3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 PCDH12 Achchuthan Shanmugasundram edited their review of gene: PCDH12: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PAX1 Achchuthan Shanmugasundram edited their review of gene: PAX1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 PACS2 Achchuthan Shanmugasundram edited their review of gene: PACS2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 PACS1 Achchuthan Shanmugasundram edited their review of gene: PACS1: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 OTUD6B Achchuthan Shanmugasundram edited their review of gene: OTUD6B: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 NUP188 Achchuthan Shanmugasundram edited their review of gene: NUP188: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 NSRP1 Achchuthan Shanmugasundram edited their review of gene: NSRP1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 NONO Achchuthan Shanmugasundram edited their review of gene: NONO: Added comment: The rating of this gene has been updated to green and the mode of inheritance 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.; 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)
Fetal anomalies v4.192 NFIB Achchuthan Shanmugasundram edited their review of gene: NFIB: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 NFIA Achchuthan Shanmugasundram edited their review of gene: NFIA: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 MYOD1 Achchuthan Shanmugasundram edited their review of gene: MYOD1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MPDZ Achchuthan Shanmugasundram edited their review of gene: MPDZ: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MINPP1 Achchuthan Shanmugasundram edited their review of gene: MINPP1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MED27 Achchuthan Shanmugasundram edited their review of gene: MED27: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MED25 Achchuthan Shanmugasundram edited their review of gene: MED25: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MCIDAS Achchuthan Shanmugasundram edited their review of gene: MCIDAS: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MAPKAPK5 Achchuthan Shanmugasundram edited their review of gene: MAPKAPK5: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MAN2C1 Achchuthan Shanmugasundram edited their review of gene: MAN2C1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 MAB21L1 Achchuthan Shanmugasundram edited their review of gene: MAB21L1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 LTBP1 Achchuthan Shanmugasundram edited their review of gene: LTBP1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 KIF4A Achchuthan Shanmugasundram edited their review of gene: KIF4A: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, biallelic mutations in females following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.192 KIDINS220 Achchuthan Shanmugasundram edited their review of gene: KIDINS220: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 JAM3 Achchuthan Shanmugasundram edited their review of gene: JAM3: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 IRX5 Achchuthan Shanmugasundram edited their review of gene: IRX5: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 INTS1 Achchuthan Shanmugasundram edited their review of gene: INTS1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 IFT74 Achchuthan Shanmugasundram edited their review of gene: IFT74: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 HYAL2 Achchuthan Shanmugasundram edited their review of gene: HYAL2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 HSPA9 Achchuthan Shanmugasundram edited their review of gene: HSPA9: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 HS2ST1 Achchuthan Shanmugasundram edited their review of gene: HS2ST1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 HNRNPH2 Achchuthan Shanmugasundram edited their review of gene: HNRNPH2: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.192 HMX1 Achchuthan Shanmugasundram edited their review of gene: HMX1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 HK1 Achchuthan Shanmugasundram edited their review of gene: HK1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v4.192 HHAT Achchuthan Shanmugasundram edited their review of gene: HHAT: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 H3F3A Achchuthan Shanmugasundram edited their review of gene: H3F3A: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 GTPBP2 Achchuthan Shanmugasundram edited their review of gene: GTPBP2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 GRM7 Achchuthan Shanmugasundram edited their review of gene: GRM7: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 GPX4 Achchuthan Shanmugasundram commented on gene: GPX4: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 GHR Achchuthan Shanmugasundram edited their review of gene: GHR: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 GFRA1 Achchuthan Shanmugasundram edited their review of gene: GFRA1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 GDF11 Achchuthan Shanmugasundram edited their review of gene: GDF11: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 GATA1 Achchuthan Shanmugasundram edited their review of gene: GATA1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.192 FRA10AC1 Achchuthan Shanmugasundram edited their review of gene: FRA10AC1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 FOXJ1 Achchuthan Shanmugasundram edited their review of gene: FOXJ1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 FBRSL1 Achchuthan Shanmugasundram edited their review of gene: FBRSL1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 FAT1 Achchuthan Shanmugasundram edited their review of gene: FAT1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 FAM149B1 Achchuthan Shanmugasundram edited their review of gene: FAM149B1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 EXOC7 Achchuthan Shanmugasundram edited their review of gene: EXOC7: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ERGIC1 Achchuthan Shanmugasundram edited their review of gene: ERGIC1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ERBB3 Achchuthan Shanmugasundram edited their review of gene: ERBB3: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 EN1 Achchuthan Shanmugasundram commented on gene: EN1: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 EFEMP2 Achchuthan Shanmugasundram edited their review of gene: EFEMP2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 EEF2 Achchuthan Shanmugasundram edited their review of gene: EEF2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 DYNC1I2 Achchuthan Shanmugasundram edited their review of gene: DYNC1I2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 DYNC1I1 Achchuthan Shanmugasundram edited their review of gene: DYNC1I1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 DPF2 Achchuthan Shanmugasundram edited their review of gene: DPF2: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 DLL1 Achchuthan Shanmugasundram edited their review of gene: DLL1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 DEPDC5 Achchuthan Shanmugasundram edited their review of gene: DEPDC5: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 DCC Achchuthan Shanmugasundram commented on gene: DCC: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 CYBB Achchuthan Shanmugasundram commented on gene: CYBB: 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.
Fetal anomalies v4.192 CTNNA2 Achchuthan Shanmugasundram commented on gene: CTNNA2: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 COA7 Achchuthan Shanmugasundram edited their review of gene: COA7: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 CLTC Achchuthan Shanmugasundram edited their review of gene: CLTC: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 CFAP52 Achchuthan Shanmugasundram edited their review of gene: CFAP52: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 CFAP45 Achchuthan Shanmugasundram edited their review of gene: CFAP45: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 CEP85L Achchuthan Shanmugasundram edited their review of gene: CEP85L: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 CELSR1 Achchuthan Shanmugasundram edited their review of gene: CELSR1: Added comment: The rating of this gene has been updated to amber following NHS Genomic Medicine Service approval.; Changed rating: AMBER
Fetal anomalies v4.192 CCDC22 Achchuthan Shanmugasundram edited their review of gene: CCDC22: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.192 C2orf69 Achchuthan Shanmugasundram edited their review of gene: C2orf69: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 C12orf57 Achchuthan Shanmugasundram edited their review of gene: C12orf57: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 BRD4 Achchuthan Shanmugasundram edited their review of gene: BRD4: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 BRCA1 Achchuthan Shanmugasundram edited their review of gene: BRCA1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ATN1 Achchuthan Shanmugasundram edited their review of gene: ATN1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 ATAD1 Achchuthan Shanmugasundram edited their review of gene: ATAD1: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ARL3 Achchuthan Shanmugasundram edited their review of gene: ARL3: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ARID2 Achchuthan Shanmugasundram edited their review of gene: ARID2: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 APC2 Achchuthan Shanmugasundram edited their review of gene: APC2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 AP4S1 Achchuthan Shanmugasundram edited their review of gene: AP4S1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 AP4B1 Achchuthan Shanmugasundram edited their review of gene: AP4B1: Added comment: The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ANGPT2 Achchuthan Shanmugasundram commented on gene: ANGPT2: The rating of this gene has been updated to green and the mode of inheritance updated to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Fetal anomalies v4.192 ALPK3 Achchuthan Shanmugasundram edited their review of gene: ALPK3: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ALG14 Achchuthan Shanmugasundram edited their review of gene: ALG14: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ALDH1A2 Achchuthan Shanmugasundram edited their review of gene: ALDH1A2: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 AFF3 Achchuthan Shanmugasundram edited their review of gene: AFF3: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.192 ADCY6 Achchuthan Shanmugasundram edited their review of gene: ADCY6: Added comment: The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.192 ACVRL1 Achchuthan Shanmugasundram edited their review of gene: ACVRL1: Added comment: The rating of this gene has been updated to green and the mode of inheritance updated to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.191 ZNF699 Achchuthan Shanmugasundram Source Expert Review Green was added to ZNF699.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ZNF526 Achchuthan Shanmugasundram Source Expert Review Green was added to ZNF526.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ZNF462 Achchuthan Shanmugasundram Source Expert Review Green was added to ZNF462.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ZNF335 Achchuthan Shanmugasundram Source Expert Review Green was added to ZNF335.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ZMYM2 Achchuthan Shanmugasundram Mode of inheritance for gene ZMYM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.191 ZMIZ1 Achchuthan Shanmugasundram Source Expert Review Green was added to ZMIZ1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 WWOX Achchuthan Shanmugasundram Source NHS GMS was added to WWOX.
Source Expert Review Green was added to WWOX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 WDR4 Achchuthan Shanmugasundram Source Expert Review Green was added to WDR4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 WDR37 Achchuthan Shanmugasundram Source Expert Review Green was added to WDR37.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 VPS4A Achchuthan Shanmugasundram Source Expert Review Green was added to VPS4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 UBR7 Achchuthan Shanmugasundram Source Expert Review Green was added to UBR7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 UBA2 Achchuthan Shanmugasundram Source Expert Review Green was added to UBA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TSEN15 Achchuthan Shanmugasundram Source NHS GMS was added to TSEN15.
Source Expert Review Green was added to TSEN15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TRRAP Achchuthan Shanmugasundram Source Expert Review Green was added to TRRAP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TRIM71 Achchuthan Shanmugasundram Source Expert Review Green was added to TRIM71.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TP73 Achchuthan Shanmugasundram Source Expert Review Green was added to TP73.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TOR1AIP1 Achchuthan Shanmugasundram Source Expert Review Green was added to TOR1AIP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TMTC3 Achchuthan Shanmugasundram Source NHS GMS was added to TMTC3.
Source Expert Review Green was added to TMTC3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TMEM218 Achchuthan Shanmugasundram Source Expert Review Green was added to TMEM218.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 TLL1 Achchuthan Shanmugasundram Source Expert Review Amber was added to TLL1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v4.191 THOC2 Achchuthan Shanmugasundram Source NHS GMS was added to THOC2.
Source Expert Review Green was added to THOC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 STT3A Achchuthan Shanmugasundram Source Expert Review Green was added to STT3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SPTB Achchuthan Shanmugasundram Source Expert Review Green was added to SPTB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SPINT2 Achchuthan Shanmugasundram Source Expert Review Green was added to SPINT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SPEN Achchuthan Shanmugasundram Source Expert Review Green was added to SPEN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SOX11 Achchuthan Shanmugasundram Source Expert Review Green was added to SOX11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SMARCD1 Achchuthan Shanmugasundram Source Expert Review Green was added to SMARCD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SMAD2 Achchuthan Shanmugasundram Source Expert Review Green was added to SMAD2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SKIV2L Achchuthan Shanmugasundram Source Expert Review Green was added to SKIV2L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SIN3A Achchuthan Shanmugasundram Source Expert Review Green was added to SIN3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SHMT2 Achchuthan Shanmugasundram Source Expert Review Green was added to SHMT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SEMA3A Achchuthan Shanmugasundram Source Expert Review Green was added to SEMA3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SCN5A Achchuthan Shanmugasundram Source Expert Review Green was added to SCN5A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SCN3A Achchuthan Shanmugasundram Source Expert Review Green was added to SCN3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 SCAF4 Achchuthan Shanmugasundram Source Expert Review Green was added to SCAF4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RPL15 Achchuthan Shanmugasundram Source Expert Review Green was added to RPL15.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RNU12 Achchuthan Shanmugasundram Source Expert Review Green was added to RNU12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RNF125 Achchuthan Shanmugasundram Source Expert Review Green was added to RNF125.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RNF113A Achchuthan Shanmugasundram Source Expert Review Green was added to RNF113A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RLIM Achchuthan Shanmugasundram Source Expert Review Green was added to RLIM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RBP4 Achchuthan Shanmugasundram Source Expert Review Green was added to RBP4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)