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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)
Fetal anomalies v4.191 RAD51 Achchuthan Shanmugasundram Source Expert Review Green was added to RAD51.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 RAD50 Achchuthan Shanmugasundram Source Expert Review Green was added to RAD50.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PXDN Achchuthan Shanmugasundram Source NHS GMS was added to PXDN.
Source Expert Review Green was added to PXDN.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PTPN23 Achchuthan Shanmugasundram Source Expert Review Green was added to PTPN23.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PRR12 Achchuthan Shanmugasundram Source Expert Review Green was added to PRR12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PRF1 Achchuthan Shanmugasundram Source Expert Review Green was added to PRF1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PPP3CA Achchuthan Shanmugasundram Source Expert Review Green was added to PPP3CA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PPP2R3C Achchuthan Shanmugasundram Source Expert Review Green was added to PPP2R3C.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PPP2CA Achchuthan Shanmugasundram Source Expert Review Green was added to PPP2CA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PPIL1 Achchuthan Shanmugasundram Source Expert Review Green was added to PPIL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PLPBP Achchuthan Shanmugasundram Source NHS GMS was added to PLPBP.
Source Expert Review Green was added to PLPBP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PLEC Achchuthan Shanmugasundram Source Expert Review Green was added to PLEC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PIGH Achchuthan Shanmugasundram Source Expert Review Green was added to PIGH.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PIDD1 Achchuthan Shanmugasundram Source Expert Review Green was added to PIDD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PHF21A Achchuthan Shanmugasundram Source Expert Review Green was added to PHF21A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PGAP1 Achchuthan Shanmugasundram Source NHS GMS was added to PGAP1.
Source Expert Review Green was added to PGAP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PDE3A Achchuthan Shanmugasundram Source Expert Review Green was added to PDE3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PCDH12 Achchuthan Shanmugasundram Source Expert Review Green was added to PCDH12.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PAX1 Achchuthan Shanmugasundram Source Expert Review Green was added to PAX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PACS2 Achchuthan Shanmugasundram Source Expert Review Green was added to PACS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 PACS1 Achchuthan Shanmugasundram Source Expert Review Green was added to PACS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 OTUD6B Achchuthan Shanmugasundram Source NHS GMS was added to OTUD6B.
Source Expert Review Green was added to OTUD6B.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 NUP188 Achchuthan Shanmugasundram Source Expert Review Green was added to NUP188.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 NSRP1 Achchuthan Shanmugasundram Source Expert Review Green was added to NSRP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 NONO Achchuthan Shanmugasundram Source Expert Review Green was added to NONO.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 NFIB Achchuthan Shanmugasundram Source Expert Review Green was added to NFIB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 NFIA Achchuthan Shanmugasundram Source Expert Review Green was added to NFIA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MYOD1 Achchuthan Shanmugasundram Source NHS GMS was added to MYOD1.
Source Expert Review Green was added to MYOD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MPDZ Achchuthan Shanmugasundram Source Expert Review Green was added to MPDZ.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MINPP1 Achchuthan Shanmugasundram Source Expert Review Green was added to MINPP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MED27 Achchuthan Shanmugasundram Source Expert Review Green was added to MED27.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MED25 Achchuthan Shanmugasundram Source Expert Review Green was added to MED25.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MCIDAS Achchuthan Shanmugasundram Source Expert Review Green was added to MCIDAS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MAPKAPK5 Achchuthan Shanmugasundram Source Expert Review Green was added to MAPKAPK5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MAN2C1 Achchuthan Shanmugasundram Source Expert Review Green was added to MAN2C1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 MAB21L1 Achchuthan Shanmugasundram Source Expert Review Green was added to MAB21L1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 LTBP1 Achchuthan Shanmugasundram Source Expert Review Green was added to LTBP1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 KIF4A Achchuthan Shanmugasundram Source Expert Review Green was added to KIF4A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 KIDINS220 Achchuthan Shanmugasundram Source Expert Review Green was added to KIDINS220.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 JAM3 Achchuthan Shanmugasundram Source NHS GMS was added to JAM3.
Source Expert Review Green was added to JAM3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 IRX5 Achchuthan Shanmugasundram Source NHS GMS was added to IRX5.
Source Expert Review Green was added to IRX5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 INTS1 Achchuthan Shanmugasundram Source Expert Review Green was added to INTS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 IFT74 Achchuthan Shanmugasundram Source Expert Review Green was added to IFT74.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 HYAL2 Achchuthan Shanmugasundram Source Expert Review Green was added to HYAL2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 HSPA9 Achchuthan Shanmugasundram Source Expert Review Green was added to HSPA9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 HS2ST1 Achchuthan Shanmugasundram Source Expert Review Green was added to HS2ST1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 HNRNPH2 Achchuthan Shanmugasundram Source NHS GMS was added to HNRNPH2.
Source Expert Review Green was added to HNRNPH2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 HMX1 Achchuthan Shanmugasundram Source NHS GMS was added to HMX1.
Source Expert Review Green was added to HMX1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 HK1 Achchuthan Shanmugasundram Source Expert Review Green was added to HK1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 HHAT Achchuthan Shanmugasundram Source Expert Review Green was added to HHAT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 H3F3A Achchuthan Shanmugasundram Source Expert Review Green was added to H3F3A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 GTPBP2 Achchuthan Shanmugasundram Source Expert Review Green was added to GTPBP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 GRM7 Achchuthan Shanmugasundram Source Expert Review Green was added to GRM7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 GPX4 Achchuthan Shanmugasundram Source NHS GMS was added to GPX4.
Source Expert Review Green was added to GPX4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 GHR Achchuthan Shanmugasundram Source Expert Review Green was added to GHR.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 GFRA1 Achchuthan Shanmugasundram Source NHS GMS was added to GFRA1.
Source Expert Review Green was added to GFRA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 GDF11 Achchuthan Shanmugasundram Source Expert Review Green was added to GDF11.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 GATA1 Achchuthan Shanmugasundram Source NHS GMS was added to GATA1.
Source Expert Review Green was added to GATA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 FRA10AC1 Achchuthan Shanmugasundram Source Expert Review Green was added to FRA10AC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 FOXJ1 Achchuthan Shanmugasundram Source Expert Review Green was added to FOXJ1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 FBRSL1 Achchuthan Shanmugasundram Source Expert Review Green was added to FBRSL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 FAT1 Achchuthan Shanmugasundram Source Expert Review Green was added to FAT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 FAM149B1 Achchuthan Shanmugasundram Source Expert Review Green was added to FAM149B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 EXOC7 Achchuthan Shanmugasundram Source Expert Review Green was added to EXOC7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ERGIC1 Achchuthan Shanmugasundram Source Expert Review Green was added to ERGIC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ERBB3 Achchuthan Shanmugasundram Source Expert Review Green was added to ERBB3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 EN1 Achchuthan Shanmugasundram Source NHS GMS was added to EN1.
Source Expert Review Green was added to EN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 EFEMP2 Achchuthan Shanmugasundram Source Expert Review Green was added to EFEMP2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 EEF2 Achchuthan Shanmugasundram Source Expert Review Green was added to EEF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 DYNC1I2 Achchuthan Shanmugasundram Source Expert Review Green was added to DYNC1I2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 DYNC1I1 Achchuthan Shanmugasundram Source Expert Review Green was added to DYNC1I1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 DPF2 Achchuthan Shanmugasundram Source Expert Review Green was added to DPF2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 DLL1 Achchuthan Shanmugasundram Source Expert Review Green was added to DLL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 DEPDC5 Achchuthan Shanmugasundram Source NHS GMS was added to DEPDC5.
Source Expert Review Green was added to DEPDC5.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 DCC Achchuthan Shanmugasundram Source NHS GMS was added to DCC.
Source Expert Review Green was added to DCC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 CYBB Achchuthan Shanmugasundram Source Expert Review Green was added to CYBB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 CTNNA2 Achchuthan Shanmugasundram Source Expert Review Green was added to CTNNA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 COA7 Achchuthan Shanmugasundram Source Expert Review Green was added to COA7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 CLTC Achchuthan Shanmugasundram Source Expert Review Green was added to CLTC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 CFAP52 Achchuthan Shanmugasundram Source Expert Review Green was added to CFAP52.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 CFAP45 Achchuthan Shanmugasundram Source Expert Review Green was added to CFAP45.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 CEP85L Achchuthan Shanmugasundram Source Expert Review Green was added to CEP85L.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 CELSR1 Achchuthan Shanmugasundram Source Expert Review Amber was added to CELSR1.
Source NHS GMS was added to CELSR1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v4.191 CCDC22 Achchuthan Shanmugasundram Source NHS GMS was added to CCDC22.
Source Expert Review Green was added to CCDC22.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 C2orf69 Achchuthan Shanmugasundram Source Expert Review Green was added to C2orf69.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 C12orf57 Achchuthan Shanmugasundram Source NHS GMS was added to C12orf57.
Source Expert Review Green was added to C12orf57.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 BRD4 Achchuthan Shanmugasundram Source Expert Review Green was added to BRD4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 BRCA1 Achchuthan Shanmugasundram Source Expert Review Green was added to BRCA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ATN1 Achchuthan Shanmugasundram Source Expert Review Green was added to ATN1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ATAD1 Achchuthan Shanmugasundram Source Expert Review Green was added to ATAD1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ARL3 Achchuthan Shanmugasundram Source Expert Review Green was added to ARL3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ARID2 Achchuthan Shanmugasundram Source Expert Review Green was added to ARID2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 APC2 Achchuthan Shanmugasundram Source Expert Review Green was added to APC2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 AP4S1 Achchuthan Shanmugasundram Source NHS GMS was added to AP4S1.
Source Expert Review Green was added to AP4S1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 AP4B1 Achchuthan Shanmugasundram Source NHS GMS was added to AP4B1.
Source Expert Review Green was added to AP4B1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ANGPT2 Achchuthan Shanmugasundram Source Expert Review Green was added to ANGPT2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ALPK3 Achchuthan Shanmugasundram Source Expert Review Green was added to ALPK3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ALG14 Achchuthan Shanmugasundram Source Expert Review Green was added to ALG14.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ALDH1A2 Achchuthan Shanmugasundram Source Expert Review Green was added to ALDH1A2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 AFF3 Achchuthan Shanmugasundram Source Expert Review Green was added to AFF3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ADCY6 Achchuthan Shanmugasundram Source Expert Review Green was added to ADCY6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.191 ACVRL1 Achchuthan Shanmugasundram Source Expert Review Green was added to ACVRL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v4.190 MYBBP1A Sarah Leigh Classified gene: MYBBP1A as Amber List (moderate evidence)
Fetal anomalies v4.190 MYBBP1A Sarah Leigh Added comment: Comment on list classification: There is enough information for this gene to be green on this panel.
Fetal anomalies v4.190 MYBBP1A Sarah Leigh Gene: mybbp1a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.189 MYBBP1A Sarah Leigh Tag Q3_24_NHS_review tag was added to gene: MYBBP1A.
Tag Q3_24_MOI tag was added to gene: MYBBP1A.
Fetal anomalies v4.189 MYBBP1A Sarah Leigh Tag Q3_24_promote_green tag was added to gene: MYBBP1A.
Fetal anomalies v4.189 MYBBP1A Sarah Leigh reviewed gene: MYBBP1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Non-immune hydrops fetalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.189 MYBBP1A Sarah Leigh Classified gene: MYBBP1A as Amber List (moderate evidence)
Fetal anomalies v4.189 MYBBP1A Sarah Leigh Gene: mybbp1a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.188 MYBBP1A Sarah Graham gene: MYBBP1A was added
gene: MYBBP1A was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MYBBP1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYBBP1A were set to 39191491; 28425981
Review for gene: MYBBP1A was set to GREEN
Added comment: Three fetuses have been reported with biallelic variants in MYBBP1A in association with oligohydramnios, cystic hygroma, pleural effusion, generalized hydrops, ascites, severe IUGR and skeletal anomalies (PMID 39191491;28425981).
Sources: Literature
Fetal anomalies v4.188 AIMP1 Natalie Bibb edited their review of gene: AIMP1: Changed publications to: 30486714, 32531460, 24958424, 33402283, 26173967, 21092922, 30477741; Set current diagnostic: yes
Fetal anomalies v4.187 TTI2 Achchuthan Shanmugasundram Phenotypes for gene: TTI2 were changed from Mental retardation, autosomal recessive 39, OMIM:615541; Microcephaly; AUTOSOMAL RECESSIVE MENTAL RETARDATION to Mental retardation, autosomal recessive 39, OMIM:615541; Microcephaly
Fetal anomalies v4.186 TSHR Achchuthan Shanmugasundram Phenotypes for gene: TSHR were changed from HYPERTHYROIDISM, FAMILIAL GESTATIONAL; HYPOTHYROIDISM, CONGENITAL, NONGOITROUS, 1; Hyperthyroidism, nonautoimmune, OMIM:609152; Hypothyroidism, congenital, nongoitrous, 1, OMIM:275200 to Hyperthyroidism, nonautoimmune, OMIM:609152; Hypothyroidism, congenital, nongoitrous, 1, OMIM:275200
Fetal anomalies v4.185 SLC5A5 Achchuthan Shanmugasundram Publications for gene: SLC5A5 were set to
Fetal anomalies v4.184 SLC5A5 Achchuthan Shanmugasundram Phenotypes for gene: SLC5A5 were changed from THYROID HORMONOGENESIS DEFECT I to Thyroid dyshormonogenesis 1, OMIM:274400
Fetal anomalies v4.183 KCNQ1 Achchuthan Shanmugasundram Phenotypes for gene: KCNQ1 were changed from Long QT syndrome 1, OMIM:192500; JERVELL AND LANGE-NIELSEN SYNDROME TYPE 1 to Long QT syndrome 1, OMIM:192500
Fetal anomalies v4.182 ITPR1 Achchuthan Shanmugasundram Phenotypes for gene: ITPR1 were changed from SPINOCEREBELLAR ATAXIA TYPE15; SPINOCEREBELLAR ATAXIA 29, CONGENITAL NONPROGRESSIVE; Gillespie Syndrome to Spinocerebellar ataxia 29, congenital nonprogressive, OMIM:117360; Spinocerebellar ataxia 15, OMIM:606658; Gillespie syndrome, OMIM:206700
Fetal anomalies v4.181 FRMPD4 Achchuthan Shanmugasundram Phenotypes for gene: FRMPD4 were changed from Intellectual Disability; Intellectual Disability, X-linked 104, OMIM:300983 to Intellectual Disability, X-linked 104, OMIM:300983
Fetal anomalies v4.180 DEAF1 Achchuthan Shanmugasundram Phenotypes for gene: DEAF1 were changed from MENTAL RETARDATION, AUTOSOMAL DOMINANT 24; Vulto-van Silfout-de Vries syndrome, OMIM:615828; Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, OMIM:617171; Autism, intellectual disability, basal ganglia dysfunction and epilepsy to Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, OMIM:617171; Vulto-van Silfout-de Vries syndrome, OMIM:615828
Fetal anomalies v4.179 DDX6 Achchuthan Shanmugasundram Phenotypes for gene: DDX6 were changed from INTELLECTUAL DISABILITY; Intellectual developmental disorder with impaired language and dysmorphic facies, OMIM:618653 to Intellectual developmental disorder with impaired language and dysmorphic facies, OMIM:618653
Fetal anomalies v4.178 COL25A1 Achchuthan Shanmugasundram Phenotypes for gene: COL25A1 were changed from FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 5; Arthrogryposis multiplex congenita, MONDO:0015168 to Arthrogryposis multiplex congenita, MONDO:0015168
Fetal anomalies v4.177 CLMP Achchuthan Shanmugasundram Phenotypes for gene: CLMP were changed from CONGENITAL SHORT BOWEL SYNDROME; Congenital short bowel syndrome, OMIM:615237 to Congenital short bowel syndrome, OMIM:615237
Fetal anomalies v4.176 AUTS2 Achchuthan Shanmugasundram Phenotypes for gene: AUTS2 were changed from SYNDROMIC INTELLECTUAL DISABILITY to Intellectual developmental disorder, autosomal dominant 26, OMIM:615834
Fetal anomalies v4.175 ATP6V1B2 Achchuthan Shanmugasundram Phenotypes for gene: ATP6V1B2 were changed from ZIMMERMANN-LABAND SYNDROME; Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480; Zimmermann-Laband syndrome 2, OMIM:616455 to Zimmermann-Laband syndrome 2, OMIM:616455; Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480
Fetal anomalies v4.174 AIMP1 Achchuthan Shanmugasundram Phenotypes for gene: AIMP1 were changed from Leukodystrophy, hypomyelinating, 3, OMIM:260600; LEUKODYSTROPHY, HYPOMYELINATING, 3 to Leukodystrophy, hypomyelinating, 3, OMIM:260600
Fetal anomalies v4.173 ACSL4 Achchuthan Shanmugasundram Phenotypes for gene: ACSL4 were changed from Mental retardation, X-linked 63 , OMIM:300387; ALPORT SYNDROME WITH MENTAL RETARDATION MIDFACE HYPOPLASIA AND ELLIPTOCYTOSIS; MENTAL RETARDATION X-LINKED TYPE 63 to Mental retardation, X-linked 63 , OMIM:300387
Fetal anomalies v4.172 ZFPM2 Achchuthan Shanmugasundram Publications for gene: ZFPM2 were set to 24702427
Fetal anomalies v4.171 ZFPM2 Achchuthan Shanmugasundram Phenotypes for gene: ZFPM2 were changed from Diaphragmatic hernia 3, OMIM:610187 to Diaphragmatic hernia 3, OMIM:610187; Tetralogy of Fallot, OMIM:187500
Fetal anomalies v4.170 YAP1 Achchuthan Shanmugasundram Phenotypes for gene: YAP1 were changed from Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, OMIM:120433; COLOBOMA, OCULAR, WITH OR WITHOUT HEARING IMPAIRMENT, CLEFT LIP/PALATE, AND/OR MENTAL RETARDATION to Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, OMIM:120433
Fetal anomalies v4.169 UNC13D Achchuthan Shanmugasundram Publications for gene: UNC13D were set to 33249554
Fetal anomalies v4.168 UNC13D Achchuthan Shanmugasundram Phenotypes for gene: UNC13D were changed from Pancytopenia; ?Hydrops fetalis to Hemophagocytic lymphohistiocytosis, familial, 3, OMIM:608898
Fetal anomalies v4.167 TRIO Achchuthan Shanmugasundram Phenotypes for gene: TRIO were changed from INTELLECTUAL DISABILITY; Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061 to Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061
Fetal anomalies v4.166 TRAPPC11 Achchuthan Shanmugasundram Phenotypes for gene: TRAPPC11 were changed from MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S to Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM:615356
Fetal anomalies v4.165 TRAPPC11 Achchuthan Shanmugasundram Publications for gene: TRAPPC11 were set to
Fetal anomalies v4.164 TBX22 Achchuthan Shanmugasundram Phenotypes for gene: TBX22 were changed from Abruzzo-Erickson syndrome, OMIM:302905; Cleft palate with ankyloglossia, OMIM:303400; ?Abruzzo-Erickson syndrome, 302905; CLEFT PALATE, X-LINKED to Abruzzo-Erickson syndrome, OMIM:302905; Cleft palate with ankyloglossia, OMIM:303400
Fetal anomalies v4.163 SNAP29 Achchuthan Shanmugasundram Phenotypes for gene: SNAP29 were changed from Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528; CEDNIK syndrome, MONDO:0012290 to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528; CEDNIK syndrome, MONDO:0012290
Fetal anomalies v4.162 SNAP29 Achchuthan Shanmugasundram Publications for gene: SNAP29 were set to 15968592; 21073448; 28388629
Fetal anomalies v4.161 SLC4A1 Achchuthan Shanmugasundram Phenotypes for gene: SLC4A1 were changed from RENAL TUBULAR ACIDOSIS, DISTAL, AD; RENAL TUBULAR ACIDOSIS, DISTAL, AR; Ovalocytosis, SA type, OMIM:166900 to Ovalocytosis, SA type, OMIM:166900
Fetal anomalies v4.160 SLC25A26 Achchuthan Shanmugasundram Phenotypes for gene: SLC25A26 were changed from INTRA-MITOCHONDRIAL METHYLATION DEFICIENCY; Combined oxidative phosphorylation deficiency 28, OMIM:616794 to Combined oxidative phosphorylation deficiency 28, OMIM:616794
Fetal anomalies v4.159 RIN2 Achchuthan Shanmugasundram Publications for gene: RIN2 were set to
Fetal anomalies v4.158 RIN2 Achchuthan Shanmugasundram Phenotypes for gene: RIN2 were changed from MACROCEPHALY, ALOPECIA, CUTIS LAXA, AND SCOLIOSIS TALL FOREHEAD, SPARSE HAIR, SKIN HYPEREXTENSIBILITY, AND SCOLIOSIS to Macrocephaly, alopecia, cutis laxa, and scoliosis, OMIM:613075
Fetal anomalies v4.157 RAD51C Achchuthan Shanmugasundram Phenotypes for gene: RAD51C were changed from FANCONI ANEMIA, COMPLEMENTATION GROUP 0 to Fanconi anemia, complementation group O, OMIM:613390
Fetal anomalies v4.156 RAD51C Achchuthan Shanmugasundram Publications for gene: RAD51C were set to
Fetal anomalies v4.155 RAB11B Achchuthan Shanmugasundram Phenotypes for gene: RAB11B were changed from INTELLECTUAL DISABILITY; 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 v4.154 QARS Achchuthan Shanmugasundram Phenotypes for gene: QARS were changed from MICROCEPHALY, PROGRESSIVE, SEIZURES, AND CEREBRAL AND CEREBELLAR ATROPHY to Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760
Fetal anomalies v4.153 QARS Achchuthan Shanmugasundram Publications for gene: QARS were set to
Fetal anomalies v4.152 POLD1 Achchuthan Shanmugasundram Phenotypes for gene: POLD1 were changed from Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381; SUBCUTANEOUS LIPODYSTROPHY, DEAFNESS, MANDIBULAR HYPOPLASIA AND MALE HYPOGONADISM to Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381
Fetal anomalies v4.151 PLOD3 Achchuthan Shanmugasundram Publications for gene: PLOD3 were set to 18834968; 33743358
Fetal anomalies v4.150 PLAA Achchuthan Shanmugasundram Phenotypes for gene: PLAA were changed from Lethal Infantile Epileptic Encephalopathy to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, OMIM:617527
Fetal anomalies v4.149 PLAA Achchuthan Shanmugasundram Publications for gene: PLAA were set to
Fetal anomalies v4.148 NOVA2 Achchuthan Shanmugasundram Phenotypes for gene: NOVA2 were changed from Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM:618859; Intellectual disability with ataxia/spasticity to Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM:618859
Fetal anomalies v4.147 NAA15 Achchuthan Shanmugasundram Phenotypes for gene: NAA15 were changed from CONGENITAL HEART DISEASE and NEURODEVELOPMENTAL DISORDER; Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, OMIM:617787 to Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, OMIM:617787
Fetal anomalies v4.146 MYBPC3 Achchuthan Shanmugasundram Phenotypes for gene: MYBPC3 were changed from ?Congenital myopathy; Cardiomyopathy; Cardiomyopathy, hypertrophic, 4, OMIM:115197 to Cardiomyopathy, hypertrophic, 4, OMIM:115197
Fetal anomalies v4.145 MPZ Achchuthan Shanmugasundram Phenotypes for gene: MPZ were changed from Charcot-Marie-Tooth disease, type 2I 607677; Roussy-Levy syndrome 180800; Dejerine-Sottas disease 145900; Charcot-Marie-Tooth disease, dominant intermediate D 607791; Charcot-Marie-Tooth disease, type 1B 118200; Neuropathy, congenital hypomyelinating 605253; Hypomyelinating neuropathy, congenital, 2, OMIM:618184; Charcot-Marie-Tooth disease, type 2J 607736 to Hypomyelinating neuropathy, congenital, 2, OMIM:618184
Fetal anomalies v4.144 MITF Achchuthan Shanmugasundram Phenotypes for gene: MITF were changed from WAARDENBURG SYNDROME TYPE 2 WITH OCULAR ALBINISM; Coloboma, Osteopetrosis, Microphthalmia, Macrocephaly, Albinism, and Deafness; WAARDENBURG SYNDROME TYPE 2A; TIETZ SYNDROME; COMMAD syndrome, 617306; Tietz albinism-deafness syndrome, 103500; Waardenburg syndrome, type 2A, 193510; Waardenburg syndrome/ocular albinism, digenic, 103470 to COMMAD syndrome, OMIM:617306
Fetal anomalies v4.143 MITF Achchuthan Shanmugasundram Publications for gene: MITF were set to 27889061
Fetal anomalies v4.142 MGAT2 Achchuthan Shanmugasundram Phenotypes for gene: MGAT2 were changed from Congenital disorder of glycosylation, type Iia, OMIM:212066 to Congenital disorder of glycosylation, type IIa, OMIM:212066
Fetal anomalies v4.141 MGAT2 Achchuthan Shanmugasundram Phenotypes for gene: MGAT2 were changed from Congenital disorder of glycosylation, type Iia, OMIM:212066; CONGENITAL DISORDER OF GLYCOSYLATION TYPE 2A to Congenital disorder of glycosylation, type Iia, OMIM:212066
Fetal anomalies v4.140 MED17 Achchuthan Shanmugasundram Phenotypes for gene: MED17 were changed from MICROCEPHALY, POSTNATAL PROGRESSIVE, WITH SEIZURES AND BRAIN ATROPHY to Microcephaly, postnatal progressive, with seizures and brain atrophy, OMIM:613668
Fetal anomalies v4.139 MED17 Achchuthan Shanmugasundram Publications for gene: MED17 were set to
Fetal anomalies v4.138 MAMLD1 Achchuthan Shanmugasundram Phenotypes for gene: MAMLD1 were changed from X-LINKED HYPOSPADIAS TYPE 2 to Hypospadias 2, OMIM:300758
Fetal anomalies v4.137 MAMLD1 Achchuthan Shanmugasundram Publications for gene: MAMLD1 were set to
Fetal anomalies v4.136 KDM1A Achchuthan Shanmugasundram Phenotypes for gene: KDM1A were changed from Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728; Developmental delay and distinctive facial features to Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728
Fetal anomalies v4.135 KCNH1 Achchuthan Shanmugasundram Phenotypes for gene: KCNH1 were changed from Zimmermann-Laband syndrome 1, OMIM:135500; TEMPLE BARRAISTER SYNDROME to Zimmermann-Laband syndrome 1, OMIM:135500
Fetal anomalies v4.134 HIST1H4C Achchuthan Shanmugasundram Phenotypes for gene: HIST1H4C were changed from HIST1H4C; Tessadori-van Haaften neurodevelopmental syndrome 1, OMIM:619758 to Tessadori-van Haaften neurodevelopmental syndrome 1, OMIM:619758
Fetal anomalies v4.133 GLMN Achchuthan Shanmugasundram Phenotypes for gene: GLMN were changed from Glomulovenous malformations, OMIM:138000; GLOMUVENOUS MALFORMATIONS to Glomulovenous malformations, OMIM:138000
Fetal anomalies v4.132 GABRB2 Achchuthan Shanmugasundram Phenotypes for gene: GABRB2 were changed from Developmental and epileptic encephalopathy 92, OMIM:617829; Epilepsy and intellectual disability to Developmental and epileptic encephalopathy 92, OMIM:617829
Fetal anomalies v4.131 FGF9 Achchuthan Shanmugasundram Phenotypes for gene: FGF9 were changed from Multiple synostoses syndrome 3, OMIM:612961; MULTIPLE SYNOSTOSES SYNDROME TYPE 3 to Multiple synostoses syndrome 3, OMIM:612961
Fetal anomalies v4.130 EMC1 Achchuthan Shanmugasundram Phenotypes for gene: EMC1 were changed from Global Developmental Delay, Hypotonia, Scoliosis, and Cerebellar Atrophy.; Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875 to Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875
Fetal anomalies v4.129 DOCK7 Achchuthan Shanmugasundram Phenotypes for gene: DOCK7 were changed from EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 23 to Developmental and epileptic encephalopathy 23, OMIM:615859
Fetal anomalies v4.128 DOCK7 Achchuthan Shanmugasundram Publications for gene: DOCK7 were set to
Fetal anomalies v4.127 DNAJC19 Achchuthan Shanmugasundram Phenotypes for gene: DNAJC19 were changed from 3-methylglutaconic aciduria, type V 610198 to 3-methylglutaconic aciduria, type V, OMIM:610198
Fetal anomalies v4.126 DNAJC19 Achchuthan Shanmugasundram Publications for gene: DNAJC19 were set to
Fetal anomalies v4.125 CTDP1 Achchuthan Shanmugasundram Phenotypes for gene: CTDP1 were changed from CONGENITAL CATARACTS FACIAL DYSMORPHISM AND NEUROPATHY SYNDROME to Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168
Fetal anomalies v4.124 CTDP1 Achchuthan Shanmugasundram Publications for gene: CTDP1 were set to 24690360; 14517542; 20301787; 29174527
Fetal anomalies v4.123 CPAMD8 Achchuthan Shanmugasundram Phenotypes for gene: CPAMD8 were changed from Anterior Segment Dysgenesis to Anterior segment dysgenesis 8, OMIM:617319
Fetal anomalies v4.122 CPAMD8 Achchuthan Shanmugasundram Publications for gene: CPAMD8 were set to
Fetal anomalies v4.121 COLGALT1 Achchuthan Shanmugasundram Phenotypes for gene: COLGALT1 were changed from Brain small vessel disease 3, MIM# 618360 to Brain small vessel disease 3, OMIM:618360
Fetal anomalies v4.120 CELSR1 Achchuthan Shanmugasundram Publications for gene: CELSR1 were set to
Fetal anomalies v4.119 CAPN15 Achchuthan Shanmugasundram Phenotypes for gene: CAPN15 were changed from microphthalmia HP:0000568; coloboma HP:0000589; Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318 to Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318; microphthalmia HP:0000568; coloboma HP:0000589
Fetal anomalies v4.118 CACNA1D Achchuthan Shanmugasundram Publications for gene: CACNA1D were set to 32410215
Fetal anomalies v4.117 CACNA1A Achchuthan Shanmugasundram Phenotypes for gene: CACNA1A were changed from Developmental and epileptic encephalopathy 42, OMIM:617106; EPILEPTIC ENCEPHALOPATHY to Developmental and epileptic encephalopathy 42, OMIM:617106
Fetal anomalies v4.116 ATP1A3 Achchuthan Shanmugasundram Phenotypes for gene: ATP1A3 were changed from Polymicrogyria; RAPID-ONSET DYSTONIA-PARKINSONISM; Developmental and epileptic encephalopathy 99, OMIM:619606; ALTERNATING HEMIPLEGIA OF CHILDHOOD to Developmental and epileptic encephalopathy 99, OMIM:619606; Polymicrogyria
Fetal anomalies v4.115 ASXL2 Achchuthan Shanmugasundram Phenotypes for gene: ASXL2 were changed from Developmental delay, macrocephaly, and dysmorphic features; Shashi-Pena syndrome, OMIM:617190 to Shashi-Pena syndrome, OMIM:617190
Fetal anomalies v4.114 AP4M1 Achchuthan Shanmugasundram Phenotypes for gene: AP4M1 were changed from CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 3 to Spastic paraplegia 50, autosomal recessive, OMIM:612936
Fetal anomalies v4.113 AP4M1 Achchuthan Shanmugasundram Publications for gene: AP4M1 were set to
Fetal anomalies v4.112 AGT Achchuthan Shanmugasundram Publications for gene: AGT were set to 28976722
Fetal anomalies v4.111 ACVR1 Achchuthan Shanmugasundram Phenotypes for gene: ACVR1 were changed from FIBRODYSPLASIA OSSIFICANS PROGRESSIVA; Fibrodysplasia ossificans progressiva, OMIM:135100 to Fibrodysplasia ossificans progressiva, OMIM:135100
Fetal anomalies v4.110 AARS Achchuthan Shanmugasundram Publications for gene: AARS were set to
Fetal anomalies v4.109 ZNF699 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ZNF699.
Tag Q3_24_NHS_review tag was added to gene: ZNF699.
Fetal anomalies v4.109 ZNF526 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ZNF526.
Tag Q3_24_NHS_review tag was added to gene: ZNF526.
Fetal anomalies v4.109 ZNF462 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ZNF462.
Tag Q3_24_NHS_review tag was added to gene: ZNF462.
Fetal anomalies v4.109 ZNF335 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ZNF335.
Tag Q3_24_NHS_review tag was added to gene: ZNF335.
Fetal anomalies v4.109 ZMYM2 Achchuthan Shanmugasundram Publications for gene: ZMYM2 were set to
Fetal anomalies v4.108 ZMYM2 Achchuthan Shanmugasundram Tag Q3_24_NHS_review tag was added to gene: ZMYM2.
Fetal anomalies v4.108 ZMYM2 Achchuthan Shanmugasundram Tag Q3_24_MOI tag was added to gene: ZMYM2.
Fetal anomalies v4.108 ZMIZ1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ZMIZ1.
Tag Q3_24_NHS_review tag was added to gene: ZMIZ1.
Fetal anomalies v4.108 WWOX Achchuthan Shanmugasundram Phenotypes for gene: WWOX were changed from EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 28; SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 12 to Developmental and epileptic encephalopathy 28, OMIM:616211
Fetal anomalies v4.107 WWOX Achchuthan Shanmugasundram Publications for gene: WWOX were set to
Fetal anomalies v4.106 WWOX Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: WWOX.
Tag Q3_24_NHS_review tag was added to gene: WWOX.
Fetal anomalies v4.106 WDR4 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: WDR4.
Tag Q3_24_NHS_review tag was added to gene: WDR4.
Fetal anomalies v4.106 WDR37 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: WDR37.
Tag Q3_24_NHS_review tag was added to gene: WDR37.
Fetal anomalies v4.106 VPS4A Achchuthan Shanmugasundram edited their review of gene: VPS4A: Changed phenotypes to: CIMDAG syndrome, MIM #619273
Fetal anomalies v4.106 VPS4A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: VPS4A.
Tag Q3_24_NHS_review tag was added to gene: VPS4A.
Fetal anomalies v4.106 UBA2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: UBA2.
Tag Q3_24_NHS_review tag was added to gene: UBA2.
Fetal anomalies v4.106 TSEN15 Achchuthan Shanmugasundram Phenotypes for gene: TSEN15 were changed from Pontocerebellar Hypoplasia and Progressive Microcephaly to Pontocerebellar hypoplasia, type 2F, OMIM:617026
Fetal anomalies v4.105 TSEN15 Achchuthan Shanmugasundram Publications for gene: TSEN15 were set to
Fetal anomalies v4.104 TSEN15 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TSEN15.
Tag Q3_24_NHS_review tag was added to gene: TSEN15.
Fetal anomalies v4.104 TRRAP Achchuthan Shanmugasundram Phenotypes for gene: TRRAP were changed from multiple congenital anomalies; Developmental delay with or without dysmorphic facies and autism, OMIM:618454 to Developmental delay with or without dysmorphic facies and autism, OMIM:618454; multiple congenital anomalies
Fetal anomalies v4.103 TRRAP Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TRRAP.
Tag Q3_24_NHS_review tag was added to gene: TRRAP.
Fetal anomalies v4.103 TRIM71 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TRIM71.
Tag Q3_24_NHS_review tag was added to gene: TRIM71.
Fetal anomalies v4.103 TP73 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TP73.
Tag Q3_24_NHS_review tag was added to gene: TP73.
Fetal anomalies v4.103 TOR1AIP1 Achchuthan Shanmugasundram Phenotypes for gene: TOR1AIP1 were changed from congenital myasthenic syndrome; Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072 to Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072; congenital myasthenic syndrome
Fetal anomalies v4.102 TOR1AIP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TOR1AIP1.
Tag Q3_24_NHS_review tag was added to gene: TOR1AIP1.
Fetal anomalies v4.102 TMTC3 Achchuthan Shanmugasundram Phenotypes for gene: TMTC3 were changed from Lissencephaly 8, OMIM:617255 to Lissencephaly 8, OMIM:617255
Fetal anomalies v4.102 TMTC3 Achchuthan Shanmugasundram Phenotypes for gene: TMTC3 were changed from Cobblestone Lissencephaly to Lissencephaly 8, OMIM:617255
Fetal anomalies v4.101 TMTC3 Achchuthan Shanmugasundram Publications for gene: TMTC3 were set to
Fetal anomalies v4.100 TMTC3 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TMTC3.
Tag Q3_24_NHS_review tag was added to gene: TMTC3.
Fetal anomalies v4.100 TMEM218 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: TMEM218.
Tag Q3_24_NHS_review tag was added to gene: TMEM218.
Fetal anomalies v4.100 THOC2 Achchuthan Shanmugasundram edited their review of gene: THOC2: Changed phenotypes to: Mental retardation, X-linked 12/35, MIM #300957
Fetal anomalies v4.100 THOC2 Achchuthan Shanmugasundram Phenotypes for gene: THOC2 were changed from MENTAL RETARDATION, X-LINKED 12 to Intellectual developmental disorder, X-linked 12, OMIM:300957
Fetal anomalies v4.99 THOC2 Achchuthan Shanmugasundram Publications for gene: THOC2 were set to
Fetal anomalies v4.98 THOC2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: THOC2.
Tag Q3_24_NHS_review tag was added to gene: THOC2.
Fetal anomalies v4.98 STT3A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: STT3A.
Tag Q3_24_NHS_review tag was added to gene: STT3A.
Fetal anomalies v4.98 SPTB Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SPTB.
Tag Q3_24_NHS_review tag was added to gene: SPTB.
Fetal anomalies v4.98 SPINT2 Achchuthan Shanmugasundram Phenotypes for gene: SPINT2 were changed from congenital secretory sodium diarrhea 3, MONDO:0010036; Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420 to Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420; congenital secretory sodium diarrhea 3, MONDO:0010036
Fetal anomalies v4.97 SPINT2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SPINT2.
Tag Q3_24_NHS_review tag was added to gene: SPINT2.
Fetal anomalies v4.97 SPEN Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SPEN.
Tag Q3_24_NHS_review tag was added to gene: SPEN.
Fetal anomalies v4.97 SOX11 Achchuthan Shanmugasundram Phenotypes for gene: SOX11 were changed from Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, OMIM:615866; MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27 to Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, OMIM:615866
Fetal anomalies v4.96 SOX11 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SOX11.
Tag Q3_24_NHS_review tag was added to gene: SOX11.
Fetal anomalies v4.96 SMARCD1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SMARCD1.
Tag Q3_24_NHS_review tag was added to gene: SMARCD1.
Fetal anomalies v4.96 SMAD2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SMAD2.
Tag Q3_24_NHS_review tag was added to gene: SMAD2.
Fetal anomalies v4.96 SKIV2L Achchuthan Shanmugasundram Phenotypes for gene: SKIV2L were changed from Trichohepatoenteric syndrome 2, OMIM:614602; TRICHOHEPATOENTERIC SYNDROME 2 to Trichohepatoenteric syndrome 2, OMIM:614602
Fetal anomalies v4.95 SKIV2L Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SKIV2L.
Tag Q3_24_NHS_review tag was added to gene: SKIV2L.
Fetal anomalies v4.95 SIN3A Achchuthan Shanmugasundram Phenotypes for gene: SIN3A were changed from Witteveen-Kolk syndrome, OMIM:613406 to Witteveen-Kolk syndrome, OMIM:613406
Fetal anomalies v4.94 SIN3A Achchuthan Shanmugasundram Phenotypes for gene: SIN3A were changed from SYNDROMIC INTELLECTUAL DISABILITY; Witteveen-Kolk syndrome, OMIM:613406 to Witteveen-Kolk syndrome, OMIM:613406
Fetal anomalies v4.93 SIN3A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SIN3A.
Tag Q3_24_NHS_review tag was added to gene: SIN3A.
Fetal anomalies v4.93 SHMT2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SHMT2.
Tag Q3_24_NHS_review tag was added to gene: SHMT2.
Fetal anomalies v4.93 SEMA3A Achchuthan Shanmugasundram Phenotypes for gene: SEMA3A were changed from {Hypogonadotropic hypogonadism 16 with or without anosmia, OMIM:614897; congenital heart disease; skeletal anomalies to {Hypogonadotropic hypogonadism 16 with or without anosmia}, OMIM:614897; congenital heart disease; skeletal anomalies
Fetal anomalies v4.92 SEMA3A Achchuthan Shanmugasundram Phenotypes for gene: SEMA3A were changed from skeletal anomalies; {Hypogonadotropic hypogonadism 16 with or without anosmia, OMIM:614897; congenital heart disease to {Hypogonadotropic hypogonadism 16 with or without anosmia, OMIM:614897; congenital heart disease; skeletal anomalies
Fetal anomalies v4.91 SEMA3A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SEMA3A.
Tag Q3_24_NHS_review tag was added to gene: SEMA3A.
Fetal anomalies v4.91 SCN5A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SCN5A.
Tag Q3_24_NHS_review tag was added to gene: SCN5A.
Fetal anomalies v4.91 SCN3A Achchuthan Shanmugasundram Phenotypes for gene: SCN3A were changed from Epilepsy, familial focal, with variable foci 4, OMIM:617935; Intellectual disability; Malformations of cortical development; Epileptic encephalopathy, early infantile, 62, OMIM:617938 to Epileptic encephalopathy, early infantile, 62, OMIM:617938; Epilepsy, familial focal, with variable foci 4, OMIM:617935; Intellectual disability; Malformations of cortical development
Fetal anomalies v4.90 SCN3A Achchuthan Shanmugasundram Phenotypes for gene: SCN3A were changed from Epilepsy, familial focal, with variable foci 4, OMIM:617935; Intellectual disability; Focal epilepsy; Malformations of cortical development; Epileptic encephalopathy, early infantile, 62, OMIM:617938 to Epilepsy, familial focal, with variable foci 4, OMIM:617935; Intellectual disability; Malformations of cortical development; Epileptic encephalopathy, early infantile, 62, OMIM:617938
Fetal anomalies v4.89 SCN3A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SCN3A.
Tag Q3_24_NHS_review tag was added to gene: SCN3A.
Fetal anomalies v4.89 SCAF4 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: SCAF4.
Tag Q3_24_NHS_review tag was added to gene: SCAF4.
Fetal anomalies v4.89 RPL15 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RPL15.
Tag Q3_24_NHS_review tag was added to gene: RPL15.
Fetal anomalies v4.89 RNU12 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RNU12.
Tag Q3_24_NHS_review tag was added to gene: RNU12.
Fetal anomalies v4.89 RNF125 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RNF125.
Tag Q3_24_NHS_review tag was added to gene: RNF125.
Fetal anomalies v4.89 RNF113A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RNF113A.
Tag Q3_24_NHS_review tag was added to gene: RNF113A.
Fetal anomalies v4.89 RLIM Achchuthan Shanmugasundram Phenotypes for gene: RLIM were changed from Tonne-Kalscheuer syndrome, OMIM:300978; INTELLECTUAL DISABILITY to Tonne-Kalscheuer syndrome, OMIM:300978
Fetal anomalies v4.88 RLIM Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RLIM.
Tag Q3_24_NHS_review tag was added to gene: RLIM.
Fetal anomalies v4.88 RBP4 Achchuthan Shanmugasundram edited their review of gene: RBP4: Changed phenotypes to: Microphthalmia, isolated, with coloboma 10, OMIM:616428
Fetal anomalies v4.88 RBP4 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RBP4.
Tag Q3_24_NHS_review tag was added to gene: RBP4.
Fetal anomalies v4.88 RAD51 Achchuthan Shanmugasundram Phenotypes for gene: RAD51 were changed from Fanconi anaemia, complementation group R, MIM# 617244; MIRROR MOVEMENTS 2 to Fanconi anaemia, complementation group R, OMIM:617244
Fetal anomalies v4.87 RAD51 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RAD51.
Tag Q3_24_NHS_review tag was added to gene: RAD51.
Fetal anomalies v4.87 RAD50 Achchuthan Shanmugasundram Phenotypes for gene: RAD50 were changed from MONDO:0013118; Nijmegen breakage syndrome-like disorder, OMIM:613078 to Nijmegen breakage syndrome-like disorder, OMIM:613078; MONDO:0013118
Fetal anomalies v4.86 RAD50 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: RAD50.
Tag Q3_24_NHS_review tag was added to gene: RAD50.
Fetal anomalies v4.86 PXDN Achchuthan Shanmugasundram Phenotypes for gene: PXDN were changed from CONGENITAL CATARACT, CORNEAL OPACITY, AND DEVELOPMENTAL GLAUCOMA to Anterior segment dysgenesis 7, with sclerocornea, OMIM:269400
Fetal anomalies v4.85 PXDN Achchuthan Shanmugasundram Publications for gene: PXDN were set to
Fetal anomalies v4.84 PXDN Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PXDN.
Tag Q3_24_NHS_review tag was added to gene: PXDN.
Fetal anomalies v4.84 PTPN23 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PTPN23.
Tag Q3_24_NHS_review tag was added to gene: PTPN23.
Fetal anomalies v4.84 PRR12 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PRR12.
Tag Q3_24_NHS_review tag was added to gene: PRR12.
Fetal anomalies v4.84 PRF1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PRF1.
Tag Q3_24_NHS_review tag was added to gene: PRF1.
Fetal anomalies v4.84 PPP3CA Achchuthan Shanmugasundram Phenotypes for gene: PPP3CA were changed from Severe Neurodevelopmental Disease with Seizures; Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM:618265 to Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM:618265
Fetal anomalies v4.83 PPP3CA Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PPP3CA.
Tag Q3_24_NHS_review tag was added to gene: PPP3CA.
Fetal anomalies v4.83 PPP2R3C Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PPP2R3C.
Tag Q3_24_NHS_review tag was added to gene: PPP2R3C.
Fetal anomalies v4.83 PPP2CA Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PPP2CA.
Tag Q3_24_NHS_review tag was added to gene: PPP2CA.
Fetal anomalies v4.83 PPIL1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PPIL1.
Tag Q3_24_NHS_review tag was added to gene: PPIL1.
Fetal anomalies v4.83 PLPBP Achchuthan Shanmugasundram Phenotypes for gene: PLPBP were changed from Vitamin-B6-Dependent Epilepsy to Epilepsy, early-onset, vitamin B6-dependent, OMIM:617290
Fetal anomalies v4.82 PLPBP Achchuthan Shanmugasundram Publications for gene: PLPBP were set to
Fetal anomalies v4.81 PLPBP Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PLPBP.
Tag Q3_24_NHS_review tag was added to gene: PLPBP.
Fetal anomalies v4.81 PLEC Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PLEC.
Tag Q3_24_NHS_review tag was added to gene: PLEC.
Fetal anomalies v4.81 PIGH Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PIGH.
Tag Q3_24_NHS_review tag was added to gene: PIGH.
Fetal anomalies v4.81 PIDD1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PIDD1.
Tag Q3_24_NHS_review tag was added to gene: PIDD1.
Fetal anomalies v4.81 PHF21A Achchuthan Shanmugasundram Phenotypes for gene: PHF21A were changed from POTOCKI-SHAFFER SYNDROME; Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, OMIM:618725 to Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, OMIM:618725
Fetal anomalies v4.80 PHF21A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PHF21A.
Tag Q3_24_NHS_review tag was added to gene: PHF21A.
Fetal anomalies v4.80 PGAP1 Achchuthan Shanmugasundram Phenotypes for gene: PGAP1 were changed from Intellectual disability, encephalopathy, impaired GPI-anchor maturation to Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, OMIM:615802
Fetal anomalies v4.79 PGAP1 Achchuthan Shanmugasundram Publications for gene: PGAP1 were set to
Fetal anomalies v4.78 PGAP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PGAP1.
Tag Q3_24_NHS_review tag was added to gene: PGAP1.
Fetal anomalies v4.78 PDE3A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PDE3A.
Tag Q3_24_NHS_review tag was added to gene: PDE3A.
Fetal anomalies v4.78 PCDH12 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PCDH12.
Tag Q3_24_NHS_review tag was added to gene: PCDH12.
Fetal anomalies v4.78 PAX1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PAX1.
Tag Q3_24_NHS_review tag was added to gene: PAX1.
Fetal anomalies v4.78 PACS2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PACS2.
Tag Q3_24_NHS_review tag was added to gene: PACS2.
Fetal anomalies v4.78 PACS1 Achchuthan Shanmugasundram Phenotypes for gene: PACS1 were changed from Schuurs-Hoeijmakers syndrome, OMIM:615009; INTELLECTUAL DISABILITY to Schuurs-Hoeijmakers syndrome, OMIM:615009
Fetal anomalies v4.77 PACS1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: PACS1.
Tag Q3_24_NHS_review tag was added to gene: PACS1.
Fetal anomalies v4.77 OTUD6B Achchuthan Shanmugasundram Publications for gene: OTUD6B were set to
Fetal anomalies v4.76 OTUD6B Achchuthan Shanmugasundram Phenotypes for gene: OTUD6B were changed from Intellectual Disability Syndrome Associated with Seizures and Dysmorphic Features to Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM:617452
Fetal anomalies v4.75 OTUD6B Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: OTUD6B.
Tag Q3_24_NHS_review tag was added to gene: OTUD6B.
Fetal anomalies v4.75 NUP188 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NUP188.
Tag Q3_24_NHS_review tag was added to gene: NUP188.
Fetal anomalies v4.75 NSRP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NSRP1.
Tag Q3_24_NHS_review tag was added to gene: NSRP1.
Fetal anomalies v4.75 NONO Achchuthan Shanmugasundram Phenotypes for gene: NONO were changed from Pulmonary stenosis; Left ventricular non-compaction cardiomyopathy (LVNC); Ebstein’s anomaly; Ventricular septal defect (VSD); Intellectual developmental disorder, X-linked syndromic 34, OMIM:300967; Atresia to Intellectual developmental disorder, X-linked syndromic 34, OMIM:300967
Fetal anomalies v4.74 NONO Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NONO.
Tag Q3_24_NHS_review tag was added to gene: NONO.
Fetal anomalies v4.74 NFIB Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NFIB.
Tag Q3_24_NHS_review tag was added to gene: NFIB.
Fetal anomalies v4.74 NFIA Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: NFIA.
Tag Q3_24_NHS_review tag was added to gene: NFIA.
Fetal anomalies v4.74 MYOD1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MYOD1.
Tag Q3_24_NHS_review tag was added to gene: MYOD1.
Fetal anomalies v4.74 MPDZ Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MPDZ.
Tag Q3_24_NHS_review tag was added to gene: MPDZ.
Fetal anomalies v4.74 MINPP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MINPP1.
Tag Q3_24_NHS_review tag was added to gene: MINPP1.
Fetal anomalies v4.74 MED27 Achchuthan Shanmugasundram Phenotypes for gene: MED27 were changed from Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia - MIM#619286 to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia, OMIM:619286
Fetal anomalies v4.73 MED27 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MED27.
Tag Q3_24_NHS_review tag was added to gene: MED27.
Fetal anomalies v4.73 MED25 Achchuthan Shanmugasundram Phenotypes for gene: MED25 were changed from Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; hypospadias, thin corpus callosum, cerebral ventricular dilatation; multiple congenital anomalies; congenital heart defects; Basel-Vanagait-Smirin-Yosef syndrome, OMIM:616449 to Basel-Vanagait-Smirin-Yosef syndrome, OMIM:616449
Fetal anomalies v4.72 MED25 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MED25.
Tag Q3_24_NHS_review tag was added to gene: MED25.
Fetal anomalies v4.72 MCIDAS Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MCIDAS.
Tag Q3_24_NHS_review tag was added to gene: MCIDAS.
Fetal anomalies v4.72 MAPKAPK5 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MAPKAPK5.
Tag Q3_24_NHS_review tag was added to gene: MAPKAPK5.
Fetal anomalies v4.72 MAN2C1 Achchuthan Shanmugasundram Phenotypes for gene: MAN2C1 were changed from Congenital disorder of deglycosylation 2, MIM# 619775 to Congenital disorder of deglycosylation 2, OMIM:619775
Fetal anomalies v4.71 MAN2C1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MAN2C1.
Tag Q3_24_NHS_review tag was added to gene: MAN2C1.
Fetal anomalies v4.71 MAB21L1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: MAB21L1.
Tag Q3_24_NHS_review tag was added to gene: MAB21L1.
Fetal anomalies v4.71 LTBP1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: LTBP1.
Tag Q3_24_NHS_review tag was added to gene: LTBP1.
Fetal anomalies v4.71 KIF4A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: KIF4A.
Tag Q3_24_NHS_review tag was added to gene: KIF4A.
Fetal anomalies v4.71 KIDINS220 Achchuthan Shanmugasundram Phenotypes for gene: KIDINS220 were changed from Ventriculomegaly and arthrogryposis, OMIM:619501 to Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296; cerebral ventriculomegaly; limb contractures
Fetal anomalies v4.70 KIDINS220 Achchuthan Shanmugasundram Publications for gene: KIDINS220 were set to 33205811; 28934391; 22048169
Fetal anomalies v4.69 KIDINS220 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: KIDINS220.
Tag Q3_24_NHS_review tag was added to gene: KIDINS220.
Fetal anomalies v4.69 JAM3 Achchuthan Shanmugasundram Phenotypes for gene: JAM3 were changed from HEMORRHAGIC DESTRUCTION OF THE BRAIN, SUBEPENDYMAL CALCIFICATION, AND CATARACTS to Haemorrhagic destruction of the brain, subependymal calcification, and cataracts, OMIM:613730
Fetal anomalies v4.68 JAM3 Achchuthan Shanmugasundram Publications for gene: JAM3 were set to
Fetal anomalies v4.67 JAM3 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: JAM3.
Tag Q3_24_NHS_review tag was added to gene: JAM3.
Fetal anomalies v4.67 IRX5 Achchuthan Shanmugasundram Phenotypes for gene: IRX5 were changed from HYPERTELORISM, SEVERE, WITH MIDFACE PROMINENCE, MYOPIA, MENTAL RETARDATION, AND BONE FRAGILITY to Hamamy syndrome, OMIM:611174
Fetal anomalies v4.66 IRX5 Achchuthan Shanmugasundram Publications for gene: IRX5 were set to
Fetal anomalies v4.65 IRX5 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: IRX5.
Tag Q3_24_NHS_review tag was added to gene: IRX5.
Fetal anomalies v4.65 INTS1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: INTS1.
Tag Q3_24_NHS_review tag was added to gene: INTS1.
Fetal anomalies v4.65 IFT74 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: IFT74.
Tag Q3_24_NHS_review tag was added to gene: IFT74.
Fetal anomalies v4.65 HYAL2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HYAL2.
Tag Q3_24_NHS_review tag was added to gene: HYAL2.
Fetal anomalies v4.65 HSPA9 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HSPA9.
Tag Q3_24_NHS_review tag was added to gene: HSPA9.
Fetal anomalies v4.65 HS2ST1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HS2ST1.
Tag Q3_24_NHS_review tag was added to gene: HS2ST1.
Fetal anomalies v4.65 HNRNPH2 Achchuthan Shanmugasundram Phenotypes for gene: HNRNPH2 were changed from Neurodevelopmental Disorder in Females to Intellectual developmental disorder, X-linked, syndromic, Bain type, OMIM:300986
Fetal anomalies v4.64 HNRNPH2 Achchuthan Shanmugasundram Publications for gene: HNRNPH2 were set to
Fetal anomalies v4.63 HNRNPH2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HNRNPH2.
Tag Q3_24_NHS_review tag was added to gene: HNRNPH2.
Fetal anomalies v4.63 HMX1 Achchuthan Shanmugasundram Phenotypes for gene: HMX1 were changed from OCULOAURICULAR SYNDROME to Oculoauricular syndrome, OMIM:612109
Fetal anomalies v4.62 HMX1 Achchuthan Shanmugasundram Publications for gene: HMX1 were set to
Fetal anomalies v4.61 HMX1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HMX1.
Tag Q3_24_NHS_review tag was added to gene: HMX1.
Fetal anomalies v4.61 HK1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HK1.
Tag Q3_24_NHS_review tag was added to gene: HK1.
Fetal anomalies v4.61 HHAT Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: HHAT.
Tag Q3_24_NHS_review tag was added to gene: HHAT.
Fetal anomalies v4.61 H3F3A Achchuthan Shanmugasundram Phenotypes for gene: H3F3A were changed from Bryant-Li-Bhoj neurodevelopmental syndrome 1, OMIM:619720; Craniofacial with neurodevelopment disorders to Bryant-Li-Bhoj neurodevelopmental syndrome 1, OMIM:619720
Fetal anomalies v4.60 H3F3A Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: H3F3A.
Tag Q3_24_NHS_review tag was added to gene: H3F3A.
Fetal anomalies v4.60 GTPBP2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GTPBP2.
Tag Q3_24_NHS_review tag was added to gene: GTPBP2.
Fetal anomalies v4.60 GRM7 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GRM7.
Tag Q3_24_NHS_review tag was added to gene: GRM7.
Fetal anomalies v4.60 GPX4 Achchuthan Shanmugasundram Publications for gene: GPX4 were set to
Fetal anomalies v4.59 GPX4 Achchuthan Shanmugasundram Phenotypes for gene: GPX4 were changed from SPONDYLOMETAPHYSEAL DYSPLASIA, SEDAGHATIAN TYPE to Spondylometaphyseal dysplasia, Sedaghatian type, OMIM:250220
Fetal anomalies v4.58 GPX4 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GPX4.
Tag Q3_24_NHS_review tag was added to gene: GPX4.
Fetal anomalies v4.58 GHR Achchuthan Shanmugasundram Phenotypes for gene: GHR were changed from Growth hormone insensitivity, partial, OMIM:604271; PITUITARY DWARFISM II; Laron dwarfism, OMIM:262500 to Growth hormone insensitivity, partial, OMIM:604271; Laron dwarfism, OMIM:262500
Fetal anomalies v4.57 GHR Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GHR.
Tag Q3_24_NHS_review tag was added to gene: GHR.
Fetal anomalies v4.57 GFRA1 Achchuthan Shanmugasundram Publications for gene: GFRA1 were set to 33020172
Fetal anomalies v4.56 GFRA1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GFRA1.
Tag Q3_24_NHS_review tag was added to gene: GFRA1.
Fetal anomalies v4.56 GDF11 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: GDF11.
Tag Q3_24_NHS_review tag was added to gene: GDF11.
Fetal anomalies v4.56 GATA1 Achchuthan Shanmugasundram Tag Q3_24_expert_review was removed from gene: GATA1.
Tag Q3_24_NHS_review tag was added to gene: GATA1.
Fetal anomalies v4.56 FRA10AC1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FRA10AC1.
Tag Q3_24_NHS_review tag was added to gene: FRA10AC1.
Fetal anomalies v4.56 FOXJ1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FOXJ1.
Tag Q3_24_NHS_review tag was added to gene: FOXJ1.
Fetal anomalies v4.56 FBRSL1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FBRSL1.
Tag Q3_24_NHS_review tag was added to gene: FBRSL1.
Fetal anomalies v4.56 FBRSL1 Achchuthan Shanmugasundram Phenotypes for gene: FBRSL1 were changed from congenital heart defect; Congenital malformations to Congenital heart defect; Congenital malformations
Fetal anomalies v4.55 FAT1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FAT1.
Tag Q3_24_NHS_review tag was added to gene: FAT1.
Fetal anomalies v4.55 FAM149B1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: FAM149B1.
Tag Q3_24_NHS_review tag was added to gene: FAM149B1.
Fetal anomalies v4.55 EXOC7 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: EXOC7.
Tag Q3_24_NHS_review tag was added to gene: EXOC7.
Fetal anomalies v4.55 ERGIC1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ERGIC1.
Tag Q3_24_NHS_review tag was added to gene: ERGIC1.
Fetal anomalies v4.55 ERBB3 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ERBB3.
Tag Q3_24_NHS_review tag was added to gene: ERBB3.
Fetal anomalies v4.55 EN1 Achchuthan Shanmugasundram edited their review of gene: EN1: Changed phenotypes to: ENDOVE syndrome, limb-brain type, OMIM:619218
Fetal anomalies v4.55 EN1 Achchuthan Shanmugasundram changed review comment from: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.; to: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.55 EN1 Achchuthan Shanmugasundram Phenotypes for gene: EN1 were changed from ENDOVE syndrome, limb-only type, OMIM:619217; ENDOVE syndrome, limb-brain type, OMIM:619218 to ENDOVE syndrome, limb-brain type, OMIM:619218
Fetal anomalies v4.54 EN1 Achchuthan Shanmugasundram Phenotypes for gene: EN1 were changed from ENDOVE syndrome, limb-only type, MIM# 619217; ENDOVE syndrome, limb-brain type, MIM# 619218 to ENDOVE syndrome, limb-only type, OMIM:619217; ENDOVE syndrome, limb-brain type, OMIM:619218
Fetal anomalies v4.53 EN1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: EN1.
Tag Q3_24_NHS_review tag was added to gene: EN1.
Fetal anomalies v4.53 EFEMP2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: EFEMP2.
Tag Q3_24_NHS_review tag was added to gene: EFEMP2.
Fetal anomalies v4.53 EEF2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: EEF2.
Tag Q3_24_NHS_review tag was added to gene: EEF2.
Fetal anomalies v4.53 DYNC1I2 Achchuthan Shanmugasundram Phenotypes for gene: DYNC1I2 were changed from Neurodevelopmental disorder with microcephaly and structural brain anomalies , OMIM:618492 to Neurodevelopmental disorder with microcephaly and structural brain anomalies, OMIM:618492
Fetal anomalies v4.52 DYNC1I2 Achchuthan Shanmugasundram Phenotypes for gene: DYNC1I2 were changed from Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492 to Neurodevelopmental disorder with microcephaly and structural brain anomalies , OMIM:618492
Fetal anomalies v4.51 DYNC1I2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DYNC1I2.
Tag Q3_24_NHS_review tag was added to gene: DYNC1I2.
Fetal anomalies v4.51 DYNC1I1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DYNC1I1.
Tag Q3_24_NHS_review tag was added to gene: DYNC1I1.
Fetal anomalies v4.51 DPF2 Achchuthan Shanmugasundram Phenotypes for gene: DPF2 were changed from Coffin-Siris syndrome 7, OMIM:618027; Coffin Siris like disorder to Coffin-Siris syndrome 7, OMIM:618027
Fetal anomalies v4.50 DPF2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DPF2.
Tag Q3_24_NHS_review tag was added to gene: DPF2.
Fetal anomalies v4.50 DLL1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DLL1.
Tag Q3_24_NHS_review tag was added to gene: DLL1.
Fetal anomalies v4.50 DEPDC5 Achchuthan Shanmugasundram Phenotypes for gene: DEPDC5 were changed from Epilepsy; Structural brain malformations to Developmental and epileptic encephalopathy 111, OMIM:620504
Fetal anomalies v4.49 DEPDC5 Achchuthan Shanmugasundram Publications for gene: DEPDC5 were set to 32848577
Fetal anomalies v4.48 DEPDC5 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DEPDC5.
Tag Q3_24_NHS_review tag was added to gene: DEPDC5.
Fetal anomalies v4.48 DCC Achchuthan Shanmugasundram Tag Q3_24_NHS_review tag was added to gene: DCC.
Fetal anomalies v4.48 CYBB Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CYBB.
Tag Q3_24_NHS_review tag was added to gene: CYBB.
Fetal anomalies v4.48 CTNNA2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CTNNA2.
Tag Q3_24_NHS_review tag was added to gene: CTNNA2.
Fetal anomalies v4.48 COA7 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: COA7.
Tag Q3_24_NHS_review tag was added to gene: COA7.
Fetal anomalies v4.48 CLTC Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CLTC.
Tag Q3_24_NHS_review tag was added to gene: CLTC.
Fetal anomalies v4.48 CFAP52 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CFAP52.
Tag Q3_24_NHS_review tag was added to gene: CFAP52.
Fetal anomalies v4.48 CFAP45 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CFAP45.
Tag Q3_24_NHS_review tag was added to gene: CFAP45.
Fetal anomalies v4.48 CEP85L Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CEP85L.
Tag Q3_23_NHS_review tag was added to gene: CEP85L.
Fetal anomalies v4.48 CCDC22 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: CCDC22.
Tag Q3_24_NHS_review tag was added to gene: CCDC22.
Fetal anomalies v4.48 CCDC22 Achchuthan Shanmugasundram Phenotypes for gene: CCDC22 were changed from SYNDROMIC X-LINKED INTELLECTUAL DISABILITY to Ritscher-Schinzel syndrome 2, OMIM:300963
Fetal anomalies v4.47 CCDC22 Achchuthan Shanmugasundram Publications for gene: CCDC22 were set to
Fetal anomalies v4.46 C2orf69 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: C2orf69.
Tag Q3_24_NHS_review tag was added to gene: C2orf69.
Fetal anomalies v4.46 C12orf57 Achchuthan Shanmugasundram Phenotypes for gene: C12orf57 were changed from COLOBOMA, HYPOPLASTIC CORPUS CALLOSUM AND INTELLECTUAL DISABILITY; TEMTAMY SYNDROME to Temtamy syndrome, OMIM:218340
Fetal anomalies v4.45 C12orf57 Achchuthan Shanmugasundram Publications for gene: C12orf57 were set to
Fetal anomalies v4.44 C12orf57 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: C12orf57.
Tag Q3_24_NHS_review tag was added to gene: C12orf57.
Fetal anomalies v4.44 BRD4 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: BRD4.
Tag Q3_24_NHS_review tag was added to gene: BRD4.
Fetal anomalies v4.44 BRCA1 Achchuthan Shanmugasundram Phenotypes for gene: BRCA1 were changed from INTELLECTUAL DISABILITY; Fanconi anaemia, complementation group S, OMIM:617883 to Fanconi anaemia, complementation group S, OMIM:617883
Fetal anomalies v4.43 BRCA1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: BRCA1.
Tag Q3_24_NHS_review tag was added to gene: BRCA1.
Fetal anomalies v4.43 ATN1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ATN1.
Tag Q3_24_NHS_review tag was added to gene: ATN1.
Fetal anomalies v4.43 ATAD1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ATAD1.
Tag Q3_24_NHS_review tag was added to gene: ATAD1.
Fetal anomalies v4.43 ARL3 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ARL3.
Tag Q3_24_NHS_review tag was added to gene: ARL3.
Fetal anomalies v4.43 ARID2 Achchuthan Shanmugasundram Phenotypes for gene: ARID2 were changed from ARID2-Coffin-Siris like disorder; Coffin-Siris syndrome 6, OMIM:617808 to Coffin-Siris syndrome 6, OMIM:617808
Fetal anomalies v4.42 ARID2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ARID2.
Tag Q3_24_NHS_review tag was added to gene: ARID2.
Fetal anomalies v4.42 APC2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: APC2.
Tag Q3_24_NHS_review tag was added to gene: APC2.
Fetal anomalies v4.42 AP4S1 Achchuthan Shanmugasundram Phenotypes for gene: AP4S1 were changed from CEREBRAL PALSY SPASTIC QUADRIPLEGIC TYPE 6 to Spastic paraplegia 52, autosomal recessive, OMIM:614067
Fetal anomalies v4.41 AP4S1 Achchuthan Shanmugasundram Publications for gene: AP4S1 were set to
Fetal anomalies v4.40 AP4S1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: AP4S1.
Tag Q3_24_NHS_review tag was added to gene: AP4S1.
Fetal anomalies v4.40 AP4B1 Achchuthan Shanmugasundram Publications for gene: AP4B1 were set to
Fetal anomalies v4.39 AP4B1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: AP4B1.
Tag Q3_24_NHS_review tag was added to gene: AP4B1.
Fetal anomalies v4.39 ANGPT2 Achchuthan Shanmugasundram Phenotypes for gene: ANGPT2 were changed from hydrops fetalis, MONDO:0015193; Lymphatic malformation 10 OMIM:619369; lymphatic malformation 10 MONDO:0023662 to hydrops fetalis, MONDO:0015193; Lymphatic malformation 10, OMIM:619369; lymphatic malformation 10, MONDO:0023662
Fetal anomalies v4.38 ANGPT2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ANGPT2.
Tag Q3_24_NHS_review tag was added to gene: ANGPT2.
Fetal anomalies v4.38 ALPK3 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ALPK3.
Tag Q3_24_NHS_review tag was added to gene: ALPK3.
Fetal anomalies v4.38 ALG14 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ALG14.
Tag Q3_24_NHS_review tag was added to gene: ALG14.
Fetal anomalies v4.38 ALDH1A2 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ALDH1A2.
Tag Q3_24_NHS_review tag was added to gene: ALDH1A2.
Fetal anomalies v4.38 AFF3 Achchuthan Shanmugasundram Phenotypes for gene: AFF3 were changed from KINSSHIP syndrome, OMIM:619297 to KINSSHIP syndrome, OMIM:619297
Fetal anomalies v4.37 AFF3 Achchuthan Shanmugasundram Phenotypes for gene: AFF3 were changed from KINSSHIP syndrome, OMIM:619297; Skeletal dysplasia with severe neurological disease to KINSSHIP syndrome, OMIM:619297
Fetal anomalies v4.36 AFF3 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: AFF3.
Tag Q3_24_NHS_review tag was added to gene: AFF3.
Fetal anomalies v4.36 ADCY6 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ADCY6.
Tag Q3_24_NHS_review tag was added to gene: ADCY6.
Fetal anomalies v4.36 ACVRL1 Achchuthan Shanmugasundram Tag Q3_24_NHS_review tag was added to gene: ACVRL1.
Fetal anomalies v4.36 ACVRL1 Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: ACVRL1.
Fetal anomalies v4.36 ZNHIT3 Achchuthan Shanmugasundram commented on gene: ZNHIT3
Fetal anomalies v4.36 ZNF699 Achchuthan Shanmugasundram commented on gene: ZNF699
Fetal anomalies v4.36 ZNF526 Achchuthan Shanmugasundram commented on gene: ZNF526
Fetal anomalies v4.36 ZNF462 Achchuthan Shanmugasundram commented on gene: ZNF462
Fetal anomalies v4.36 ZNF335 Achchuthan Shanmugasundram commented on gene: ZNF335
Fetal anomalies v4.36 ZMYM2 Achchuthan Shanmugasundram commented on gene: ZMYM2
Fetal anomalies v4.36 ZMIZ1 Achchuthan Shanmugasundram commented on gene: ZMIZ1
Fetal anomalies v4.36 ZFPM2 Achchuthan Shanmugasundram commented on gene: ZFPM2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 ZBTB24 Achchuthan Shanmugasundram commented on gene: ZBTB24
Fetal anomalies v4.36 YRDC Achchuthan Shanmugasundram commented on gene: YRDC
Fetal anomalies v4.36 YIPF5 Achchuthan Shanmugasundram commented on gene: YIPF5
Fetal anomalies v4.36 YIF1B Achchuthan Shanmugasundram commented on gene: YIF1B
Fetal anomalies v4.36 YAP1 Achchuthan Shanmugasundram commented on gene: YAP1
Fetal anomalies v4.36 WWOX Achchuthan Shanmugasundram commented on gene: WWOX
Fetal anomalies v4.36 WDR4 Achchuthan Shanmugasundram commented on gene: WDR4
Fetal anomalies v4.36 WDR37 Achchuthan Shanmugasundram commented on gene: WDR37
Fetal anomalies v4.36 VPS4A Achchuthan Shanmugasundram commented on gene: VPS4A: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 UNC13D Achchuthan Shanmugasundram commented on gene: UNC13D
Fetal anomalies v4.36 UBR7 Achchuthan Shanmugasundram commented on gene: UBR7
Fetal anomalies v4.36 UBA2 Achchuthan Shanmugasundram commented on gene: UBA2
Fetal anomalies v4.36 TUBGCP2 Achchuthan Shanmugasundram commented on gene: TUBGCP2
Fetal anomalies v4.36 TTI2 Achchuthan Shanmugasundram commented on gene: TTI2
Fetal anomalies v4.36 TSHR Achchuthan Shanmugasundram commented on gene: TSHR
Fetal anomalies v4.36 TSEN15 Achchuthan Shanmugasundram commented on gene: TSEN15
Fetal anomalies v4.36 TRRAP Achchuthan Shanmugasundram commented on gene: TRRAP
Fetal anomalies v4.36 TRNT1 Achchuthan Shanmugasundram commented on gene: TRNT1
Fetal anomalies v4.36 TRIO Achchuthan Shanmugasundram commented on gene: TRIO
Fetal anomalies v4.36 TRIM71 Achchuthan Shanmugasundram commented on gene: TRIM71
Fetal anomalies v4.36 TRAPPC11 Achchuthan Shanmugasundram commented on gene: TRAPPC11: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 TPO Achchuthan Shanmugasundram commented on gene: TPO
Fetal anomalies v4.36 TP73 Achchuthan Shanmugasundram commented on gene: TP73
Fetal anomalies v4.36 TOR1AIP1 Achchuthan Shanmugasundram commented on gene: TOR1AIP1
Fetal anomalies v4.36 TOP2B Achchuthan Shanmugasundram commented on gene: TOP2B
Fetal anomalies v4.36 TNFRSF11A Achchuthan Shanmugasundram commented on gene: TNFRSF11A
Fetal anomalies v4.36 TMTC3 Achchuthan Shanmugasundram commented on gene: TMTC3
Fetal anomalies v4.36 TMEM218 Achchuthan Shanmugasundram commented on gene: TMEM218
Fetal anomalies v4.36 TLL1 Achchuthan Shanmugasundram commented on gene: TLL1
Fetal anomalies v4.36 TLK2 Achchuthan Shanmugasundram commented on gene: TLK2
Fetal anomalies v4.36 THOC2 Achchuthan Shanmugasundram commented on gene: THOC2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 TG Achchuthan Shanmugasundram commented on gene: TG
Fetal anomalies v4.36 TBX22 Achchuthan Shanmugasundram commented on gene: TBX22
Fetal anomalies v4.36 TBC1D1 Achchuthan Shanmugasundram commented on gene: TBC1D1
Fetal anomalies v4.36 TAOK1 Achchuthan Shanmugasundram commented on gene: TAOK1
Fetal anomalies v4.36 SZT2 Achchuthan Shanmugasundram commented on gene: SZT2
Fetal anomalies v4.36 SYT2 Achchuthan Shanmugasundram commented on gene: SYT2
Fetal anomalies v4.36 STT3B Achchuthan Shanmugasundram commented on gene: STT3B: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 STT3A Achchuthan Shanmugasundram commented on gene: STT3A
Fetal anomalies v4.36 STK4 Achchuthan Shanmugasundram commented on gene: STK4
Fetal anomalies v4.36 STIM1 Achchuthan Shanmugasundram commented on gene: STIM1: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 STAT3 Achchuthan Shanmugasundram commented on gene: STAT3
Fetal anomalies v4.36 SPTB Achchuthan Shanmugasundram commented on gene: SPTB
Fetal anomalies v4.36 SPTA1 Achchuthan Shanmugasundram commented on gene: SPTA1
Fetal anomalies v4.36 SPRED2 Achchuthan Shanmugasundram commented on gene: SPRED2
Fetal anomalies v4.36 SPINT2 Achchuthan Shanmugasundram commented on gene: SPINT2
Fetal anomalies v4.36 SPEN Achchuthan Shanmugasundram commented on gene: SPEN
Fetal anomalies v4.36 SOX11 Achchuthan Shanmugasundram commented on gene: SOX11
Fetal anomalies v4.36 SNAP29 Achchuthan Shanmugasundram commented on gene: SNAP29
Fetal anomalies v4.36 SMARCD1 Achchuthan Shanmugasundram commented on gene: SMARCD1
Fetal anomalies v4.36 SMARCAL1 Achchuthan Shanmugasundram commented on gene: SMARCAL1
Fetal anomalies v4.36 SMAD6 Achchuthan Shanmugasundram commented on gene: SMAD6
Fetal anomalies v4.36 SMAD2 Achchuthan Shanmugasundram commented on gene: SMAD2
Fetal anomalies v4.36 SLC5A5 Achchuthan Shanmugasundram commented on gene: SLC5A5: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 SLC4A1 Achchuthan Shanmugasundram commented on gene: SLC4A1
Fetal anomalies v4.36 SLC25A26 Achchuthan Shanmugasundram commented on gene: SLC25A26
Fetal anomalies v4.36 SLC22A5 Achchuthan Shanmugasundram commented on gene: SLC22A5
Fetal anomalies v4.36 SLC20A1 Achchuthan Shanmugasundram commented on gene: SLC20A1
Fetal anomalies v4.36 SKIV2L Achchuthan Shanmugasundram commented on gene: SKIV2L
Fetal anomalies v4.36 SIN3A Achchuthan Shanmugasundram commented on gene: SIN3A
Fetal anomalies v4.36 SHMT2 Achchuthan Shanmugasundram commented on gene: SHMT2
Fetal anomalies v4.36 SF3B2 Achchuthan Shanmugasundram commented on gene: SF3B2
Fetal anomalies v4.36 SERPINA11 Achchuthan Shanmugasundram commented on gene: SERPINA11
Fetal anomalies v4.36 SEMA3A Achchuthan Shanmugasundram commented on gene: SEMA3A
Fetal anomalies v4.36 SCNN1G Achchuthan Shanmugasundram commented on gene: SCNN1G
Fetal anomalies v4.36 SCNN1B Achchuthan Shanmugasundram commented on gene: SCNN1B
Fetal anomalies v4.36 SCNN1A Achchuthan Shanmugasundram commented on gene: SCNN1A
Fetal anomalies v4.36 SCN5A Achchuthan Shanmugasundram commented on gene: SCN5A: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 SCN3A Achchuthan Shanmugasundram commented on gene: SCN3A
Fetal anomalies v4.36 SCAF4 Achchuthan Shanmugasundram commented on gene: SCAF4
Fetal anomalies v4.36 RPL15 Achchuthan Shanmugasundram commented on gene: RPL15
Fetal anomalies v4.36 RNU12 Achchuthan Shanmugasundram commented on gene: RNU12
Fetal anomalies v4.36 RNF125 Achchuthan Shanmugasundram commented on gene: RNF125
Fetal anomalies v4.36 RNF113A Achchuthan Shanmugasundram commented on gene: RNF113A
Fetal anomalies v4.36 RLIM Achchuthan Shanmugasundram commented on gene: RLIM
Fetal anomalies v4.36 RIN2 Achchuthan Shanmugasundram commented on gene: RIN2
Fetal anomalies v4.36 RHOA Achchuthan Shanmugasundram commented on gene: RHOA
Fetal anomalies v4.36 RHEB Achchuthan Shanmugasundram commented on gene: RHEB
Fetal anomalies v4.36 RBP4 Achchuthan Shanmugasundram commented on gene: RBP4: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 RAP1B Achchuthan Shanmugasundram commented on gene: RAP1B
Fetal anomalies v4.36 RAD51C Achchuthan Shanmugasundram commented on gene: RAD51C
Fetal anomalies v4.36 RAD51 Achchuthan Shanmugasundram commented on gene: RAD51
Fetal anomalies v4.36 RAD50 Achchuthan Shanmugasundram commented on gene: RAD50
Fetal anomalies v4.36 RAB11B Achchuthan Shanmugasundram commented on gene: RAB11B
Fetal anomalies v4.36 QARS Achchuthan Shanmugasundram commented on gene: QARS
Fetal anomalies v4.36 PXDN Achchuthan Shanmugasundram commented on gene: PXDN
Fetal anomalies v4.36 PTPN23 Achchuthan Shanmugasundram commented on gene: PTPN23
Fetal anomalies v4.36 PRR12 Achchuthan Shanmugasundram commented on gene: PRR12
Fetal anomalies v4.36 PRF1 Achchuthan Shanmugasundram commented on gene: PRF1
Fetal anomalies v4.36 PPP3CA Achchuthan Shanmugasundram commented on gene: PPP3CA
Fetal anomalies v4.36 PPP2R3C Achchuthan Shanmugasundram commented on gene: PPP2R3C
Fetal anomalies v4.36 PPP2CA Achchuthan Shanmugasundram commented on gene: PPP2CA
Fetal anomalies v4.36 PPP1R13L Achchuthan Shanmugasundram commented on gene: PPP1R13L
Fetal anomalies v4.36 PPP1R12A Achchuthan Shanmugasundram commented on gene: PPP1R12A
Fetal anomalies v4.36 PPIL1 Achchuthan Shanmugasundram commented on gene: PPIL1
Fetal anomalies v4.36 POLD1 Achchuthan Shanmugasundram commented on gene: POLD1
Fetal anomalies v4.36 PLPBP Achchuthan Shanmugasundram commented on gene: PLPBP
Fetal anomalies v4.36 PLOD3 Achchuthan Shanmugasundram commented on gene: PLOD3: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 PLEC Achchuthan Shanmugasundram commented on gene: PLEC
Fetal anomalies v4.36 PLAA Achchuthan Shanmugasundram commented on gene: PLAA
Fetal anomalies v4.36 PKP2 Achchuthan Shanmugasundram commented on gene: PKP2
Fetal anomalies v4.36 PIGH Achchuthan Shanmugasundram commented on gene: PIGH
Fetal anomalies v4.36 PIDD1 Achchuthan Shanmugasundram commented on gene: PIDD1
Fetal anomalies v4.36 PI4KA Achchuthan Shanmugasundram commented on gene: PI4KA
Fetal anomalies v4.36 PHF21A Achchuthan Shanmugasundram commented on gene: PHF21A
Fetal anomalies v4.36 PHEX Achchuthan Shanmugasundram commented on gene: PHEX
Fetal anomalies v4.36 PGAP1 Achchuthan Shanmugasundram commented on gene: PGAP1
Fetal anomalies v4.36 PDE6D Achchuthan Shanmugasundram commented on gene: PDE6D: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 PDE3A Achchuthan Shanmugasundram commented on gene: PDE3A
Fetal anomalies v4.36 PCDH12 Achchuthan Shanmugasundram commented on gene: PCDH12
Fetal anomalies v4.36 PAX1 Achchuthan Shanmugasundram commented on gene: PAX1
Fetal anomalies v4.36 PARP6 Achchuthan Shanmugasundram commented on gene: PARP6
Fetal anomalies v4.36 PAM16 Achchuthan Shanmugasundram commented on gene: PAM16
Fetal anomalies v4.36 PACS2 Achchuthan Shanmugasundram commented on gene: PACS2
Fetal anomalies v4.36 PACS1 Achchuthan Shanmugasundram commented on gene: PACS1
Fetal anomalies v4.36 OTUD6B Achchuthan Shanmugasundram commented on gene: OTUD6B
Fetal anomalies v4.36 OTUD5 Achchuthan Shanmugasundram commented on gene: OTUD5
Fetal anomalies v4.36 ORAI1 Achchuthan Shanmugasundram commented on gene: ORAI1
Fetal anomalies v4.36 NUP88 Achchuthan Shanmugasundram commented on gene: NUP88: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 NUP188 Achchuthan Shanmugasundram commented on gene: NUP188
Fetal anomalies v4.36 NSRP1 Achchuthan Shanmugasundram commented on gene: NSRP1
Fetal anomalies v4.36 NSD2 Achchuthan Shanmugasundram commented on gene: NSD2
Fetal anomalies v4.36 NPRL3 Achchuthan Shanmugasundram commented on gene: NPRL3
Fetal anomalies v4.36 NPRL2 Achchuthan Shanmugasundram commented on gene: NPRL2
Fetal anomalies v4.36 NPL Achchuthan Shanmugasundram commented on gene: NPL
Fetal anomalies v4.36 NOVA2 Achchuthan Shanmugasundram commented on gene: NOVA2
Fetal anomalies v4.36 NONO Achchuthan Shanmugasundram commented on gene: NONO
Fetal anomalies v4.36 NLRP3 Achchuthan Shanmugasundram commented on gene: NLRP3
Fetal anomalies v4.36 NKX2-6 Achchuthan Shanmugasundram commented on gene: NKX2-6
Fetal anomalies v4.36 NID1 Achchuthan Shanmugasundram commented on gene: NID1: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 NFIB Achchuthan Shanmugasundram commented on gene: NFIB
Fetal anomalies v4.36 NFIA Achchuthan Shanmugasundram commented on gene: NFIA
Fetal anomalies v4.36 NEXN Achchuthan Shanmugasundram commented on gene: NEXN
Fetal anomalies v4.36 NCAPD2 Achchuthan Shanmugasundram commented on gene: NCAPD2
Fetal anomalies v4.36 NAA15 Achchuthan Shanmugasundram commented on gene: NAA15
Fetal anomalies v4.36 MYSM1 Achchuthan Shanmugasundram commented on gene: MYSM1: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 MYOD1 Achchuthan Shanmugasundram commented on gene: MYOD1
Fetal anomalies v4.36 MYBPC3 Achchuthan Shanmugasundram commented on gene: MYBPC3
Fetal anomalies v4.36 MVK Achchuthan Shanmugasundram commented on gene: MVK
Fetal anomalies v4.36 MTX2 Achchuthan Shanmugasundram commented on gene: MTX2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 MT-TL1 Achchuthan Shanmugasundram commented on gene: MT-TL1
Fetal anomalies v4.36 MT-TE Achchuthan Shanmugasundram commented on gene: MT-TE
Fetal anomalies v4.36 MPZ Achchuthan Shanmugasundram commented on gene: MPZ
Fetal anomalies v4.36 MPDZ Achchuthan Shanmugasundram commented on gene: MPDZ
Fetal anomalies v4.36 MNS1 Achchuthan Shanmugasundram commented on gene: MNS1
Fetal anomalies v4.36 MITF Achchuthan Shanmugasundram commented on gene: MITF
Fetal anomalies v4.36 MINPP1 Achchuthan Shanmugasundram commented on gene: MINPP1
Fetal anomalies v4.36 MGAT2 Achchuthan Shanmugasundram commented on gene: MGAT2
Fetal anomalies v4.36 MED27 Achchuthan Shanmugasundram commented on gene: MED27
Fetal anomalies v4.36 MED25 Achchuthan Shanmugasundram commented on gene: MED25
Fetal anomalies v4.36 MED17 Achchuthan Shanmugasundram commented on gene: MED17
Fetal anomalies v4.36 MCIDAS Achchuthan Shanmugasundram commented on gene: MCIDAS
Fetal anomalies v4.36 MBTPS1 Achchuthan Shanmugasundram commented on gene: MBTPS1: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 MAST1 Achchuthan Shanmugasundram commented on gene: MAST1
Fetal anomalies v4.36 MAPKAPK5 Achchuthan Shanmugasundram commented on gene: MAPKAPK5
Fetal anomalies v4.36 MAPK8IP3 Achchuthan Shanmugasundram commented on gene: MAPK8IP3
Fetal anomalies v4.36 MAPK1 Achchuthan Shanmugasundram commented on gene: MAPK1
Fetal anomalies v4.36 MAP1B Achchuthan Shanmugasundram commented on gene: MAP1B
Fetal anomalies v4.36 MAN2C1 Achchuthan Shanmugasundram commented on gene: MAN2C1
Fetal anomalies v4.36 MAMLD1 Achchuthan Shanmugasundram commented on gene: MAMLD1
Fetal anomalies v4.36 MAB21L1 Achchuthan Shanmugasundram commented on gene: MAB21L1
Fetal anomalies v4.36 LTBP1 Achchuthan Shanmugasundram commented on gene: LTBP1
Fetal anomalies v4.36 LAGE3 Achchuthan Shanmugasundram commented on gene: LAGE3: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 KIF4A Achchuthan Shanmugasundram commented on gene: KIF4A
Fetal anomalies v4.36 KIF21B Achchuthan Shanmugasundram commented on gene: KIF21B
Fetal anomalies v4.36 KIDINS220 Achchuthan Shanmugasundram commented on gene: KIDINS220
Fetal anomalies v4.36 KIAA0825 Achchuthan Shanmugasundram commented on gene: KIAA0825
Fetal anomalies v4.36 KIAA0556 Achchuthan Shanmugasundram commented on gene: KIAA0556
Fetal anomalies v4.36 KDM1A Achchuthan Shanmugasundram commented on gene: KDM1A
Fetal anomalies v4.36 KCNQ1 Achchuthan Shanmugasundram commented on gene: KCNQ1
Fetal anomalies v4.36 KCNJ8 Achchuthan Shanmugasundram commented on gene: KCNJ8
Fetal anomalies v4.36 KCNH1 Achchuthan Shanmugasundram commented on gene: KCNH1
Fetal anomalies v4.36 KAT5 Achchuthan Shanmugasundram commented on gene: KAT5: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 JAM3 Achchuthan Shanmugasundram commented on gene: JAM3
Fetal anomalies v4.36 ITPR1 Achchuthan Shanmugasundram commented on gene: ITPR1
Fetal anomalies v4.36 IRX5 Achchuthan Shanmugasundram commented on gene: IRX5
Fetal anomalies v4.36 IQCE Achchuthan Shanmugasundram commented on gene: IQCE
Fetal anomalies v4.36 INTS1 Achchuthan Shanmugasundram commented on gene: INTS1
Fetal anomalies v4.36 IKZF1 Achchuthan Shanmugasundram commented on gene: IKZF1
Fetal anomalies v4.36 IFT74 Achchuthan Shanmugasundram commented on gene: IFT74
Fetal anomalies v4.36 IFT27 Achchuthan Shanmugasundram commented on gene: IFT27
Fetal anomalies v4.36 HYAL2 Achchuthan Shanmugasundram commented on gene: HYAL2
Fetal anomalies v4.36 HSPA9 Achchuthan Shanmugasundram commented on gene: HSPA9
Fetal anomalies v4.36 HS2ST1 Achchuthan Shanmugasundram commented on gene: HS2ST1
Fetal anomalies v4.36 HOXA2 Achchuthan Shanmugasundram commented on gene: HOXA2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 HNRNPH2 Achchuthan Shanmugasundram commented on gene: HNRNPH2
Fetal anomalies v4.36 HMX1 Achchuthan Shanmugasundram commented on gene: HMX1
Fetal anomalies v4.36 HMGB1 Achchuthan Shanmugasundram commented on gene: HMGB1
Fetal anomalies v4.36 HK1 Achchuthan Shanmugasundram commented on gene: HK1
Fetal anomalies v4.36 HIST1H4C Achchuthan Shanmugasundram commented on gene: HIST1H4C
Fetal anomalies v4.36 HHAT Achchuthan Shanmugasundram commented on gene: HHAT
Fetal anomalies v4.36 HERC1 Achchuthan Shanmugasundram commented on gene: HERC1
Fetal anomalies v4.36 H3F3A Achchuthan Shanmugasundram commented on gene: H3F3A
Fetal anomalies v4.36 GTPBP2 Achchuthan Shanmugasundram commented on gene: GTPBP2
Fetal anomalies v4.36 GRM7 Achchuthan Shanmugasundram commented on gene: GRM7
Fetal anomalies v4.36 GPX4 Achchuthan Shanmugasundram commented on gene: GPX4: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 GLMN Achchuthan Shanmugasundram commented on gene: GLMN
Fetal anomalies v4.36 GHR Achchuthan Shanmugasundram commented on gene: GHR
Fetal anomalies v4.36 GFRA1 Achchuthan Shanmugasundram commented on gene: GFRA1
Fetal anomalies v4.36 GDF11 Achchuthan Shanmugasundram commented on gene: GDF11
Fetal anomalies v4.36 GATA5 Achchuthan Shanmugasundram commented on gene: GATA5
Fetal anomalies v4.36 GATA1 Achchuthan Shanmugasundram commented on gene: GATA1
Fetal anomalies v4.36 GABRB2 Achchuthan Shanmugasundram commented on gene: GABRB2
Fetal anomalies v4.36 G6PD Achchuthan Shanmugasundram commented on gene: G6PD
Fetal anomalies v4.36 FRMPD4 Achchuthan Shanmugasundram commented on gene: FRMPD4
Fetal anomalies v4.36 FRA10AC1 Achchuthan Shanmugasundram commented on gene: FRA10AC1
Fetal anomalies v4.36 FOXJ1 Achchuthan Shanmugasundram commented on gene: FOXJ1
Fetal anomalies v4.36 FGF9 Achchuthan Shanmugasundram commented on gene: FGF9
Fetal anomalies v4.36 FBXW11 Achchuthan Shanmugasundram commented on gene: FBXW11: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 FBRSL1 Achchuthan Shanmugasundram commented on gene: FBRSL1
Fetal anomalies v4.36 FAT1 Achchuthan Shanmugasundram commented on gene: FAT1
Fetal anomalies v4.36 FAM149B1 Achchuthan Shanmugasundram commented on gene: FAM149B1
Fetal anomalies v4.36 EXOSC9 Achchuthan Shanmugasundram commented on gene: EXOSC9
Fetal anomalies v4.36 EXOSC8 Achchuthan Shanmugasundram commented on gene: EXOSC8
Fetal anomalies v4.36 EXOSC5 Achchuthan Shanmugasundram commented on gene: EXOSC5
Fetal anomalies v4.36 EXOC7 Achchuthan Shanmugasundram commented on gene: EXOC7
Fetal anomalies v4.36 ERGIC1 Achchuthan Shanmugasundram commented on gene: ERGIC1
Fetal anomalies v4.36 ERBB3 Achchuthan Shanmugasundram commented on gene: ERBB3
Fetal anomalies v4.36 EN1 Achchuthan Shanmugasundram commented on gene: EN1: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 EMC1 Achchuthan Shanmugasundram commented on gene: EMC1
Fetal anomalies v4.36 EIF3F Achchuthan Shanmugasundram commented on gene: EIF3F
Fetal anomalies v4.36 EFEMP2 Achchuthan Shanmugasundram commented on gene: EFEMP2
Fetal anomalies v4.36 EEF2 Achchuthan Shanmugasundram commented on gene: EEF2
Fetal anomalies v4.36 EDN3 Achchuthan Shanmugasundram commented on gene: EDN3
Fetal anomalies v4.36 DYNC1I2 Achchuthan Shanmugasundram commented on gene: DYNC1I2
Fetal anomalies v4.36 DYNC1I1 Achchuthan Shanmugasundram commented on gene: DYNC1I1
Fetal anomalies v4.36 DPH1 Achchuthan Shanmugasundram commented on gene: DPH1
Fetal anomalies v4.36 DPF2 Achchuthan Shanmugasundram commented on gene: DPF2
Fetal anomalies v4.36 DOCK7 Achchuthan Shanmugasundram commented on gene: DOCK7: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 DNAJC19 Achchuthan Shanmugasundram commented on gene: DNAJC19
Fetal anomalies v4.36 DLL1 Achchuthan Shanmugasundram commented on gene: DLL1
Fetal anomalies v4.36 DICER1 Achchuthan Shanmugasundram commented on gene: DICER1
Fetal anomalies v4.36 DEPDC5 Achchuthan Shanmugasundram commented on gene: DEPDC5
Fetal anomalies v4.36 DEAF1 Achchuthan Shanmugasundram commented on gene: DEAF1
Fetal anomalies v4.36 DDX6 Achchuthan Shanmugasundram commented on gene: DDX6
Fetal anomalies v4.36 DCC Achchuthan Shanmugasundram commented on gene: DCC: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 D2HGDH Achchuthan Shanmugasundram commented on gene: D2HGDH
Fetal anomalies v4.36 CYBB Achchuthan Shanmugasundram commented on gene: CYBB: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 CWF19L1 Achchuthan Shanmugasundram commented on gene: CWF19L1
Fetal anomalies v4.36 CTNNA2 Achchuthan Shanmugasundram commented on gene: CTNNA2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 CTDP1 Achchuthan Shanmugasundram commented on gene: CTDP1
Fetal anomalies v4.36 CPAMD8 Achchuthan Shanmugasundram commented on gene: CPAMD8
Fetal anomalies v4.36 COLGALT1 Achchuthan Shanmugasundram commented on gene: COLGALT1
Fetal anomalies v4.36 COL9A3 Achchuthan Shanmugasundram commented on gene: COL9A3
Fetal anomalies v4.36 COL27A1 Achchuthan Shanmugasundram commented on gene: COL27A1
Fetal anomalies v4.36 COL25A1 Achchuthan Shanmugasundram commented on gene: COL25A1
Fetal anomalies v4.36 COA7 Achchuthan Shanmugasundram commented on gene: COA7
Fetal anomalies v4.36 CLTC Achchuthan Shanmugasundram commented on gene: CLTC
Fetal anomalies v4.36 CLMP Achchuthan Shanmugasundram commented on gene: CLMP
Fetal anomalies v4.36 CLCNKB Achchuthan Shanmugasundram commented on gene: CLCNKB
Fetal anomalies v4.36 CITED2 Achchuthan Shanmugasundram commented on gene: CITED2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 CFAP52 Achchuthan Shanmugasundram commented on gene: CFAP52
Fetal anomalies v4.36 CFAP45 Achchuthan Shanmugasundram commented on gene: CFAP45
Fetal anomalies v4.36 CEP85L Achchuthan Shanmugasundram commented on gene: CEP85L
Fetal anomalies v4.36 CELSR1 Achchuthan Shanmugasundram commented on gene: CELSR1
Fetal anomalies v4.36 CCDC22 Achchuthan Shanmugasundram commented on gene: CCDC22
Fetal anomalies v4.36 CAPN15 Achchuthan Shanmugasundram commented on gene: CAPN15
Fetal anomalies v4.36 CALCRL Achchuthan Shanmugasundram commented on gene: CALCRL
Fetal anomalies v4.36 CACNA1D Achchuthan Shanmugasundram commented on gene: CACNA1D
Fetal anomalies v4.36 CACNA1A Achchuthan Shanmugasundram commented on gene: CACNA1A
Fetal anomalies v4.36 C2orf69 Achchuthan Shanmugasundram commented on gene: C2orf69
Fetal anomalies v4.36 C12orf57 Achchuthan Shanmugasundram commented on gene: C12orf57
Fetal anomalies v4.36 BRF1 Achchuthan Shanmugasundram commented on gene: BRF1: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 BRD4 Achchuthan Shanmugasundram commented on gene: BRD4
Fetal anomalies v4.36 BRCA1 Achchuthan Shanmugasundram commented on gene: BRCA1
Fetal anomalies v4.36 BCAS3 Achchuthan Shanmugasundram commented on gene: BCAS3
Fetal anomalies v4.36 B9D1 Achchuthan Shanmugasundram commented on gene: B9D1
Fetal anomalies v4.36 AUTS2 Achchuthan Shanmugasundram commented on gene: AUTS2
Fetal anomalies v4.36 ATP6V1B2 Achchuthan Shanmugasundram commented on gene: ATP6V1B2
Fetal anomalies v4.36 ATP1A3 Achchuthan Shanmugasundram commented on gene: ATP1A3
Fetal anomalies v4.36 ATP11C Achchuthan Shanmugasundram commented on gene: ATP11C
Fetal anomalies v4.36 ATN1 Achchuthan Shanmugasundram commented on gene: ATN1
Fetal anomalies v4.36 ATAD1 Achchuthan Shanmugasundram commented on gene: ATAD1
Fetal anomalies v4.36 ASXL2 Achchuthan Shanmugasundram commented on gene: ASXL2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 ARL3 Achchuthan Shanmugasundram commented on gene: ARL3
Fetal anomalies v4.36 ARID2 Achchuthan Shanmugasundram commented on gene: ARID2
Fetal anomalies v4.36 ARF1 Achchuthan Shanmugasundram commented on gene: ARF1
Fetal anomalies v4.36 APC2 Achchuthan Shanmugasundram commented on gene: APC2
Fetal anomalies v4.36 AP4S1 Achchuthan Shanmugasundram commented on gene: AP4S1
Fetal anomalies v4.36 AP4M1 Achchuthan Shanmugasundram commented on gene: AP4M1
Fetal anomalies v4.36 AP4B1 Achchuthan Shanmugasundram commented on gene: AP4B1
Fetal anomalies v4.36 ANKRD17 Achchuthan Shanmugasundram commented on gene: ANKRD17
Fetal anomalies v4.36 ANKLE2 Achchuthan Shanmugasundram commented on gene: ANKLE2
Fetal anomalies v4.36 ANGPT2 Achchuthan Shanmugasundram commented on gene: ANGPT2: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group. Outcome of review: Confirmed that the phenotype is fetally relevant, support adding to the Fetal anomalies panel as a Green gene.
Fetal anomalies v4.36 AMBRA1 Achchuthan Shanmugasundram commented on gene: AMBRA1
Fetal anomalies v4.36 ALPK3 Achchuthan Shanmugasundram commented on gene: ALPK3
Fetal anomalies v4.36 ALG14 Achchuthan Shanmugasundram commented on gene: ALG14
Fetal anomalies v4.36 ALDH1A2 Achchuthan Shanmugasundram commented on gene: ALDH1A2
Fetal anomalies v4.36 ALB Achchuthan Shanmugasundram commented on gene: ALB
Fetal anomalies v4.36 AIMP1 Achchuthan Shanmugasundram commented on gene: AIMP1
Fetal anomalies v4.36 AGT Achchuthan Shanmugasundram commented on gene: AGT
Fetal anomalies v4.36 AFF3 Achchuthan Shanmugasundram commented on gene: AFF3
Fetal anomalies v4.36 ADCY6 Achchuthan Shanmugasundram commented on gene: ADCY6
Fetal anomalies v4.36 ADAMTS19 Achchuthan Shanmugasundram commented on gene: ADAMTS19: This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Fetal anomalies v4.36 ACVRL1 Achchuthan Shanmugasundram commented on gene: ACVRL1
Fetal anomalies v4.36 ACVR1 Achchuthan Shanmugasundram commented on gene: ACVR1
Fetal anomalies v4.36 ACSL4 Achchuthan Shanmugasundram commented on gene: ACSL4
Fetal anomalies v4.36 ABHD16A Achchuthan Shanmugasundram commented on gene: ABHD16A
Fetal anomalies v4.36 AARS Achchuthan Shanmugasundram commented on gene: AARS
Fetal anomalies v4.35 ZNHIT3 Lyn Chitty reviewed gene: ZNHIT3: Rating: RED; Mode of pathogenicity: ; Publications: 28335020, 31048081; Phenotypes: PEHO syndrome, OMIM:260565; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ZNF699 Samantha Doyle reviewed gene: ZNF699: Rating: GREEN; Mode of pathogenicity: ; Publications: 33875846; Phenotypes: DEGCAGS syndrome, OMIM:619488; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ZNF526 Natalie Canham reviewed gene: ZNF526: Rating: GREEN; Mode of pathogenicity: ; Publications: 33397746, 21937992, 25558065; Phenotypes: Dystonia, Hypertonia, Intellectual disability, Cataracts, Microcephaly, Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ZNF462 Natalie Bibb reviewed gene: ZNF462: Rating: GREEN; Mode of pathogenicity: ; Publications: 28513610, 31361404; Phenotypes: Weiss-Kruszka syndrome, OMIM:618619; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ZNF335 Anna de Burca reviewed gene: ZNF335: Rating: GREEN; Mode of pathogenicity: ; Publications: 23178126, 34982360, 29652087, 27540107; Phenotypes: Microcephaly 10, primary, autosomal recessive, OMIM:615095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ZMYM2 Esther Kinning reviewed gene: ZMYM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32891193; Phenotypes: Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, OMIM:619522; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ZMIZ1 Denise Williams reviewed gene: ZMIZ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30639322, 31879022; Phenotypes: Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, OMIM:618659; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ZFPM2 Achchuthan Shanmugasundram reviewed gene: ZFPM2: Rating: AMBER; Mode of pathogenicity: ; Publications: 16103912, 10892744, 24702427, 21919901, 14517948, 17568391; Phenotypes: Tetralogy of Fallot, OMIM:187500, Diaphragmatic hernia 3, OMIM:610187; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ZBTB24 Stephanie Allen reviewed gene: ZBTB24: Rating: AMBER; Mode of pathogenicity: ; Publications: 21596365, 21906047, 32061411, 29023266, 32865561, 22786748, 23739126, 28128455; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 2, OMIM:614069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 YRDC Samantha Doyle reviewed gene: YRDC: Rating: RED; Mode of pathogenicity: ; Publications: 31481669, 34545459; Phenotypes: Galloway-Mowat syndrome 10, OMIM:619609; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 YIPF5 Lyn Chitty reviewed gene: YIPF5: Rating: RED; Mode of pathogenicity: ; Publications: 33164986; Phenotypes: Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 YIF1B Samantha Doyle reviewed gene: YIF1B: Rating: AMBER; Mode of pathogenicity: ; Publications: 26077767, 32006098; Phenotypes: Kaya-Barakat-Masson syndrome, OMIM:619125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 YAP1 Natalie Canham reviewed gene: YAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24462371, 28801591, 27267789; Phenotypes: Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, OMIM:120433; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 WWOX Natalie Bibb reviewed gene: WWOX: Rating: GREEN; Mode of pathogenicity: ; Publications: 33916893; Phenotypes: Developmental and epileptic encephalopathy 28, OMIM:616211; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 WDR4 Esther Kinning reviewed gene: WDR4: Rating: GREEN; Mode of pathogenicity: ; Publications: 28617965, 26416026; Phenotypes: Microcephaly, growth deficiency, seizures, and brain malformations, OMIM:618346; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 WDR37 Denise Williams reviewed gene: WDR37: Rating: GREEN; Mode of pathogenicity: ; Publications: 31327508, 31327510; Phenotypes: Neurooculocardiogenitourinary syndrome, OMIM:618652; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 VPS4A Achchuthan Shanmugasundram reviewed gene: VPS4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 33186543, 33186545; Phenotypes: CIMDAG syndrome MIM# 619273; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 UNC13D Esther Kinning reviewed gene: UNC13D: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Familial Hemophagocytic Lymphohistiocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 UBR7 Stephanie Allen reviewed gene: UBR7: Rating: GREEN; Mode of pathogenicity: ; Publications: 33340455; Phenotypes: Li-Campeau syndrome, OMIM:619189; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 UBA2 Samantha Doyle reviewed gene: UBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31332306, 31587267; Phenotypes: Split-Hand/Foot Malformation, Aplasia Cutis Congenita, Ectrodactyly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 TUBGCP2 Lyn Chitty reviewed gene: TUBGCP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 31630790; Phenotypes: Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TTI2 Samantha Doyle reviewed gene: TTI2: Rating: RED; Mode of pathogenicity: ; Publications: 32061250, 31737043, 23956177; Phenotypes: Mental retardation, autosomal recessive 39, OMIM:615541, Microcephaly; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TSHR Natalie Canham reviewed gene: TSHR: Rating: RED; Mode of pathogenicity: ; Publications: 18655531, 15163335, 23295291, 9360555, 7800007; Phenotypes: Hyperthyroidism, nonautoimmune, OMIM:609152, Hypothyroidism, congenital, nongoitrous, 1, OMIM:275200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TSEN15 Natalie Bibb reviewed gene: TSEN15: Rating: GREEN; Mode of pathogenicity: ; Publications: 30914295, 25558065, 27392077; Phenotypes: Pontocerebellar hypoplasia, type 2F, OMIM:617026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TRRAP Anna de Burca reviewed gene: TRRAP: Rating: GREEN; Mode of pathogenicity: ; Publications: 30827496; Phenotypes: multiple congenital anomalies, Developmental delay with or without dysmorphic facies and autism, OMIM:618454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 TRNT1 Denise Williams reviewed gene: TRNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29055896, 33082562; Phenotypes: Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM:616084; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TRIO Esther Kinning reviewed gene: TRIO: Rating: AMBER; Mode of pathogenicity: ; Publications: 32109419, 26721934; Phenotypes: Mental retardation, autosomal dominant 44, OMIM:617061; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 TRIM71 Denise Williams reviewed gene: TRIM71: Rating: GREEN; Mode of pathogenicity: ; Publications: 32168371, 29983323, 30975633; Phenotypes: Hydrocephalus, congenital communicating, 1, OMIM:618667; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 TRAPPC11 Achchuthan Shanmugasundram reviewed gene: TRAPPC11: Rating: AMBER; Mode of pathogenicity: ; Publications: 27862579, 23830518, 26322222, 29855340, 30105108, 27707803, 26912795, 28484880; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM:615356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TPO Stephanie Allen reviewed gene: TPO: Rating: RED; Mode of pathogenicity: ; Publications: 30662777, 34220711; Phenotypes: Thyroid dyshormonogenesis 2A, OMIM:274500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TP73 Samantha Doyle reviewed gene: TP73: Rating: GREEN; Mode of pathogenicity: ; Publications: 34077761, 31130284; Phenotypes: Ciliary dyskinesia, primary, 47, and lissencephaly, OMIM:619466; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TOR1AIP1 Lyn Chitty reviewed gene: TOR1AIP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27342937, 24856141, 30723199, 32055997, 33215087, 31299614; Phenotypes: congenital myasthenic syndrome, Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TOP2B Samantha Doyle reviewed gene: TOP2B: Rating: RED; Mode of pathogenicity: ; Publications: 31409799; Phenotypes: B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, OMIM:609296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 TNFRSF11A Natalie Canham reviewed gene: TNFRSF11A: Rating: AMBER; Mode of pathogenicity: ; Publications: 18606301, 32048120; Phenotypes: Osteopetrosis, autosomal recessive 7, OMIM:612301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TMTC3 Natalie Bibb reviewed gene: TMTC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 27773428, 28973161; Phenotypes: Lissencephaly 8, OMIM:617255; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TMEM218 Anna de Burca reviewed gene: TMEM218: Rating: GREEN; Mode of pathogenicity: ; Publications: 25161209, 33791682; Phenotypes: Joubert syndrome 39, OMIM:619562; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TLL1 Esther Kinning reviewed gene: TLL1: Rating: AMBER; Mode of pathogenicity: ; Publications: 18830233, 31570783, 27418595, 30538173; Phenotypes: congenital heart disease, Atrial septal defect 6, OMIM:613087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 TLK2 Denise Williams reviewed gene: TLK2: Rating: AMBER; Mode of pathogenicity: ; Publications: 34821460, 31558842, 29861108; Phenotypes: Intellectual developmental disorder, autosomal dominant 57, OMIM:618050; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v4.35 THOC2 Achchuthan Shanmugasundram reviewed gene: THOC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32116545, 26166480, 32960281, 29851191; Phenotypes: Mental retardation, X-linked 12/35 MIM#300957; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 TG Stephanie Allen reviewed gene: TG: Rating: RED; Mode of pathogenicity: ; Publications: 28620499, 19169491, 18631008, 33832185, 12915634; Phenotypes: Thyroid dyshormonogenesis 3, OMIM:274700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 TBX22 Samantha Doyle reviewed gene: TBX22: Rating: AMBER; Mode of pathogenicity: ; Publications: 22784330, 14729838, 17868388, 11559848, 12374769; Phenotypes: Abruzzo-Erickson syndrome, OMIM:302905, Cleft palate with ankyloglossia, OMIM:303400; 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 v4.35 TBC1D1 Lyn Chitty reviewed gene: TBC1D1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26572137; Phenotypes: CAKUT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 TAOK1 Samantha Doyle reviewed gene: TAOK1: Rating: RED; Mode of pathogenicity: ; Publications: 31230721, 35091509, 33565190; Phenotypes: Developmental delay with or without intellectual impairment or behavioral abnormalities, OMIM:619575; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SZT2 Natalie Canham reviewed gene: SZT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 32402703, 30560016, 30359774, 28556953, 23932106; Phenotypes: Developmental and epileptic encephalopathy 18, OMIM:615476; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SYT2 Natalie Bibb reviewed gene: SYT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 30533528, 25192047, 32250532, 32776697; Phenotypes: Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive, OMIM:619461, Myasthenic syndrome, congenital, 7, presynaptic, OMIM:616040; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 STT3B Achchuthan Shanmugasundram reviewed gene: STT3B: Rating: RED; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Congenital disorder of glycosylation, type Ix, OMIM:615597; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 STT3A Esther Kinning reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 28424003, 30701557, 34653363, 23842455; Phenotypes: Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596, Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 STK4 Denise Williams reviewed gene: STK4: Rating: RED; Mode of pathogenicity: ; Publications: 22294732, 26117625, 22174160, 22952854; Phenotypes: T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, OMIM:614868; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 STIM1 Achchuthan Shanmugasundram reviewed gene: STIM1: Rating: AMBER; Mode of pathogenicity: ; Publications: 20876309, 31448844; Phenotypes: Myopathy, tubular aggregate, OMIM:160565, Immunodeficiency 10, OMIM:612783, Stormorken syndrome, OMIM:185070; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 STAT3 Stephanie Allen reviewed gene: STAT3: Rating: AMBER; Mode of pathogenicity: ; Publications: 31771449, 34366294, 30617622; Phenotypes: Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952, Hyper-IgE recurrent infection syndrome, OMIM:147060; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SPTB Stephanie Allen reviewed gene: SPTB: Rating: GREEN; Mode of pathogenicity: ; Publications: 33761640, 33082562, 35819869; Phenotypes: Hereditary spherocytosis/elliptocytosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 SPTA1 Samantha Doyle reviewed gene: SPTA1: Rating: RED; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Hereditary spherocytosis/elliptocytosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 SPRED2 Samantha Doyle reviewed gene: SPRED2: Rating: AMBER; Mode of pathogenicity: ; Publications: 34626534, 36394128; Phenotypes: Noonan syndrome 14, OMIM:619745; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SPINT2 Lyn Chitty reviewed gene: SPINT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19185281, 24142340, 30445423, 20009592, 33374714, 33029133, 33547739; Phenotypes: congenital secretory sodium diarrhea 3, MONDO:0010036, Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SPEN Samantha Doyle reviewed gene: SPEN: Rating: GREEN; Mode of pathogenicity: ; Publications: 33596411; Phenotypes: Radio-Tartaglia syndrome, OMIM:619312; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SOX11 Natalie Canham reviewed gene: SOX11: Rating: GREEN; Mode of pathogenicity: ; Publications: 33785884, 24886874, 31530938, 33086258, 33430815; Phenotypes: Coffin-Siris syndrome 9, OMIM:615866; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SNAP29 Natalie Bibb reviewed gene: SNAP29: Rating: AMBER; Mode of pathogenicity: ; Publications: 28388629, 15968592, 29051910, 21073448, 30793783; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528, CEDNIK syndrome, MONDO:0012290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SMARCD1 Natalie Chandler reviewed gene: SMARCD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30879640; Phenotypes: Coffin-Siris syndrome 11, OMIM:618779; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SMARCAL1 Anna de Burca reviewed gene: SMARCAL1: Rating: RED; Mode of pathogenicity: ; Publications: 20301550, 20036229, 17089404, 15523612; Phenotypes: Schimke immunoosseous dysplasia, OMIM:242900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SMAD6 Esther Kinning reviewed gene: SMAD6: Rating: RED; Mode of pathogenicity: ; Publications: 22275001, 31138930, 32499606, 27606499; Phenotypes: {Craniosynostosis 7, susceptibility to}, OMIM:617439, Aortic valve disease 2, OMIM:614823, {Radioulnar synostosis, nonsyndromic}, OMIM:179300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SMAD2 Denise Williams reviewed gene: SMAD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30157302, 29967133, 23665959; Phenotypes: Loeys-Dietz syndrome 6, OMIM:619656, Congenital heart defects, multiple types, 8, with or without heterotaxy, OMIM:619657; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SLC5A5 Achchuthan Shanmugasundram reviewed gene: SLC5A5: Rating: RED; Mode of pathogenicity: ; Publications: 32805706, 34726525, 34806438, 33815280, 31115276; Phenotypes: Thyroid dyshormonogenesis 1, OMIM:274400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SLC4A1 Lyn Chitty reviewed gene: SLC4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562, 24652967; Phenotypes: Ovalocytosis, SA type, OMIM:166900; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 SLC25A26 Anna de Burca reviewed gene: SLC25A26: Rating: AMBER; Mode of pathogenicity: ; Publications: 26522469, 33082562; Phenotypes: Combined oxidative phosphorylation deficiency 28, OMIM:616794; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SLC22A5 Natalie Canham reviewed gene: SLC22A5: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Primary carnitine deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SLC20A1 Stephanie Allen reviewed gene: SLC20A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32850778, 27013921; Phenotypes: Bladder-Exstrophy-Epispadias Complex (BEEC); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SKIV2L Samantha Doyle reviewed gene: SKIV2L: Rating: GREEN; Mode of pathogenicity: ; Publications: 22444670, 27431780; Phenotypes: Trichohepatoenteric syndrome 2, OMIM:614602; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SIN3A Lyn Chitty reviewed gene: SIN3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 27399968; Phenotypes: Witteveen-Kolk syndrome, OMIM:613406; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SHMT2 Natalie Chandler reviewed gene: SHMT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33015733; Phenotypes: Polymicrogyria, corpus callosum anomalies, Microcephaly, Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SF3B2 Natalie Canham reviewed gene: SF3B2: Rating: AMBER; Mode of pathogenicity: ; Publications: 34344887, 37555391; Phenotypes: Craniofacial microsomia, OMIM:164210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SERPINA11 Natalie Bibb reviewed gene: SERPINA11: Rating: RED; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: SERPINA11-prenatal lethal disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SEMA3A Natalie Bibb reviewed gene: SEMA3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 20301509, 22927827, 24124006, 33369061, 21059704, 28075028; Phenotypes: skeletal anomalies, {Hypogonadotropic hypogonadism 16 with or without anosmia, OMIM:614897, congenital heart disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SCNN1G Anna de Burca reviewed gene: SCNN1G: Rating: RED; Mode of pathogenicity: ; Publications: 31522814, 11231969, 8640238, 7633160; Phenotypes: Pseudohypoaldosteronism, type IB3, autosomal recessive, OMIM:620126; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SCNN1B Esther Kinning reviewed gene: SCNN1B: Rating: AMBER; Mode of pathogenicity: ; Publications: 8589714; Phenotypes: Pseudohypoaldosteronism, type I, OMIM:264350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 SCNN1A Denise Williams reviewed gene: SCNN1A: Rating: RED; Mode of pathogenicity: ; Publications: 8589714, 31301676; Phenotypes: Pseudohypoaldosteronism, type I, OMIM:264350; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 SCN5A Achchuthan Shanmugasundram reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 19419784, 22064211, 15184283; Phenotypes: Sudden infant death syndrome, susceptibility to - #272120, Long QT syndrome 3 - #603830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SCN3A Stephanie Allen reviewed gene: SCN3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29740860, 32515017, 30146301; Phenotypes: Epileptic encephalopathy, early infantile, 62, OMIM:617938, Epilepsy, familial focal, with variable foci 4, OMIM:617935, Intellectual disability, Malformations of cortical development; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 SCAF4 Natalie Chandler reviewed gene: SCAF4: Rating: GREEN; Mode of pathogenicity: ; Publications: 32730804; Phenotypes: Neurodevelopmental disorder MONDO#0700092, SCAF4-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 RPL15 Lyn Chitty reviewed gene: RPL15: Rating: GREEN; Mode of pathogenicity: ; Publications: 23812780, 20301769, 29599205; Phenotypes: Diamond-Blackfan anemia 12, OMIM:615550, multiple congenital malformations, hydrops; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 RNU12 Natalie Chandler reviewed gene: RNU12: Rating: GREEN; Mode of pathogenicity: ; Publications: 34085356; Phenotypes: Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations, CDAGS syndrome, OMIM:603116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 RNF125 Natalie Canham reviewed gene: RNF125: Rating: GREEN; Mode of pathogenicity: ; Publications: 25196541; Phenotypes: Tenorio syndrome, OMIM:616260; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 RNF113A Natalie Bibb reviewed gene: RNF113A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25612912, 31793730, 31880405; Phenotypes: Trichothiodystrophy 5, nonphotosensitive, OMIM:300953; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 RLIM Anna de Burca reviewed gene: RLIM: Rating: GREEN; Mode of pathogenicity: ; Publications: 29728705, 25735484, 25644381; Phenotypes: Tonne-Kalscheuer syndrome, OMIM:300978; 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 v4.35 RIN2 Esther Kinning reviewed gene: RIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: 20954239, 30769224, 20424861, 24449201, 19631308; Phenotypes: Macrocephaly, alopecia, cutis laxa, and scoliosis, OMIM:613075; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 RHOA Esther Kinning reviewed gene: RHOA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, OMIM:618727; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 RHEB Denise Williams reviewed gene: RHEB: Rating: RED; Mode of pathogenicity: ; Publications: 29051493, 31337748; Phenotypes: Macrocephaly, Intellectual disability, Focal cortical dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 RBP4 Achchuthan Shanmugasundram reviewed gene: RBP4: Rating: GREEN; Mode of pathogenicity: ; Publications: 29178648, 25910211; Phenotypes: Microphthalmia, isolated, with coloboma 10 MIM#616428; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 RAP1B Stephanie Allen reviewed gene: RAP1B: Rating: RED; Mode of pathogenicity: ; Publications: 26280580, 32627184; Phenotypes: Syndromic intellectual disability, short stature; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 RAD51C Natalie Chandler reviewed gene: RAD51C: Rating: AMBER; Mode of pathogenicity: ; Publications: 29278735, 20400963; Phenotypes: Fanconi anemia, complementation group O, OMIM:613390; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 RAD51 Lyn Chitty reviewed gene: RAD51: Rating: GREEN; Mode of pathogenicity: ; Publications: 26681308, 30907510, 26253028; Phenotypes: Fanconi anaemia, complementation group R, OMIM:617244; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 RAD50 Natalie Chandler reviewed gene: RAD50: Rating: GREEN; Mode of pathogenicity: ; Publications: 33378670, 32212377, 19409520; Phenotypes: MONDO:0013118, Nijmegen breakage syndrome-like disorder, OMIM:613078; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 RAB11B Natalie Canham reviewed gene: RAB11B: Rating: AMBER; Mode of pathogenicity: ; Publications: 29106825; Phenotypes: Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 QARS Natalie Bibb reviewed gene: QARS: Rating: AMBER; Mode of pathogenicity: ; Publications: 24656866, 25432320, 25041233, 32042906, 25471517, 28620870; Phenotypes: Microcephaly, progressive, seizures, and cerebral and cerebellar atrophy, OMIM:615760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PXDN Anna de Burca reviewed gene: PXDN: Rating: GREEN; Mode of pathogenicity: ; Publications: 31817535, 24939590, 32224865, 21907015, 32015378, 32499604; Phenotypes: Anterior segment dysgenesis 7, with sclerocornea, OMIM:269400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PTPN23 Esther Kinning reviewed gene: PTPN23: Rating: GREEN; Mode of pathogenicity: ; Publications: 29899372, 29090338, 25558065, 31395947, 27848944; Phenotypes: Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, OMIM:618890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PRR12 Denise Williams reviewed gene: PRR12: Rating: GREEN; Mode of pathogenicity: ; Publications: 29556724, 33314030; Phenotypes: Neuroocular syndrome, OMIM:619539, Complex microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 PRF1 Natalie Chandler reviewed gene: PRF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19595804, 26199792, 30070073; Phenotypes: Aplastic anaemia, OMIM:609135, Haemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PPP3CA Anna de Burca reviewed gene: PPP3CA: Rating: GREEN; Mode of pathogenicity: ; Publications: 28942967, 33082562, 29432562; Phenotypes: Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM:618265; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 PPP2R3C Lyn Chitty reviewed gene: PPP2R3C: Rating: GREEN; Mode of pathogenicity: ; Publications: 30893644, 34714774, 34750818; Phenotypes: Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM:618419; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PPP2CA Natalie Chandler reviewed gene: PPP2CA: Rating: GREEN; Mode of pathogenicity: ; Publications: 30595372; Phenotypes: Neurodevelopmental disorder and language delay with or without structural brain abnormalities, OMIM:618354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 PPP1R13L Natalie Canham reviewed gene: PPP1R13L: Rating: RED; Mode of pathogenicity: ; Publications: 32666529, 28864777; Phenotypes: Dilated cardiomyopathy, onset in infancy, Cleft lip and palate; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PPP1R12A Natalie Bibb reviewed gene: PPP1R12A: Rating: RED; Mode of pathogenicity: ; Publications: 31883643; Phenotypes: holoprosencephaly, disorder of sex development, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 PPIL1 Anna de Burca reviewed gene: PPIL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33220177; Phenotypes: Pontocerebellar hypoplasia, type 14, OMIM:619301; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 POLD1 Esther Kinning reviewed gene: POLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 23770608; Phenotypes: Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 PLPBP Denise Williams reviewed gene: PLPBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 31741821, 30668673, 27912044; Phenotypes: Epilepsy, early-onset, vitamin B6-dependent, OMIM:617290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PLOD3 Achchuthan Shanmugasundram reviewed gene: PLOD3: Rating: AMBER; Mode of pathogenicity: ; Publications: 18834968, 30237576; Phenotypes: Lysyl hydroxylase 3 deficiency, OMIM:612394, Stickler-syndrome like; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PLEC Stephanie Allen reviewed gene: PLEC: Rating: GREEN; Mode of pathogenicity: ; Publications: 28824526, 31509265, 22144912, 21263134, 21109228, 20624679; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723, Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950, Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138, Epidermolysis bullosa simplex with muscular dystrophy, OMIM:226670; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 PLAA Lyn Chitty reviewed gene: PLAA: Rating: AMBER; Mode of pathogenicity: ; Publications: 28413018, 28007986, 31322726; Phenotypes: Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies, OMIM:617527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PKP2 Esther Kinning reviewed gene: PKP2: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Severe cardiomyopathy with left ventricular noncompaction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PIGH Natalie Chandler reviewed gene: PIGH: Rating: GREEN; Mode of pathogenicity: ; Publications: 29603516, 29573052, 33156547, 35445667; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 17, OMIM:618010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PIDD1 Natalie Canham reviewed gene: PIDD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33414379, 28397838, 34163010, 29302074; Phenotypes: Global developmental delay, Seizures, Behavioral abnormality, Abnormality of the corpus callosum, Autism, Intellectual disability, Lissencephaly, Pachygyria, Psychosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PI4KA Natalie Bibb reviewed gene: PI4KA: Rating: AMBER; Mode of pathogenicity: ; Publications: 34415310; Phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679, Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PHF21A Anna de Burca reviewed gene: PHF21A: Rating: GREEN; Mode of pathogenicity: ; Publications: 31649809, 30487643, 22770980; Phenotypes: Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, MIM# 618725; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 PHEX Esther Kinning reviewed gene: PHEX: Rating: AMBER; Mode of pathogenicity: ; Publications: 9106524, 16055933, 19219621, 29791829; Phenotypes: Hypophosphatemic rickets, X-linked dominant, OMIM:307800; 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 v4.35 PGAP1 Denise Williams reviewed gene: PGAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24482476, 25823418, 25804403, 26050939, 24784135; Phenotypes: Neurodevelopmental disorder with dysmorphic features, spasticity, and brain abnormalities, OMIM:615802; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PDE6D Achchuthan Shanmugasundram reviewed gene: PDE6D: Rating: AMBER; Mode of pathogenicity: ; Publications: 30423442, 24166846; Phenotypes: Joubert syndrome 22, OMIM:615665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PDE3A Stephanie Allen reviewed gene: PDE3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25961942; Phenotypes: Hypertension and brachydactyly syndrome, OMIM:112410; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 PCDH12 Natalie Chandler reviewed gene: PCDH12: Rating: GREEN; Mode of pathogenicity: ; Publications: 30178464, 27164683; Phenotypes: Diencephalic-mesencephalic junction dysplasia syndrome 1, OMIM:251280; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PAX1 Natalie Chandler reviewed gene: PAX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23851939, 29681087, 32111619; Phenotypes: Otofaciocervical syndrome 2, OMIM:615560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PARP6 Lyn Chitty reviewed gene: PARP6: Rating: AMBER; Mode of pathogenicity: ; Publications: 34067418; Phenotypes: Microcephaly, Intellectual disability, Epilepsy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 PAM16 Natalie Chandler reviewed gene: PAM16: Rating: AMBER; Mode of pathogenicity: ; Publications: 27354339, 24786642; Phenotypes: Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM:613320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 PACS2 Natalie Canham reviewed gene: PACS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29656858, 34894068, 34859793; Phenotypes: Developmental and epileptic encephalopathy 66, OMIM:618067; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 PACS1 Natalie Bibb reviewed gene: PACS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30712880, 32672908, 23159249, 26842493; Phenotypes: Schuurs-Hoeijmakers syndrome, OMIM:615009; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 OTUD6B Anna de Burca reviewed gene: OTUD6B: Rating: GREEN; Mode of pathogenicity: ; Publications: 31147255, 32924626, 28343629; Phenotypes: Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 OTUD5 Esther Kinning reviewed gene: OTUD5: Rating: GREEN; Mode of pathogenicity: ; Publications: 33523931, 33131077; Phenotypes: Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, OMIM:301056; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 ORAI1 Denise Williams reviewed gene: ORAI1: Rating: AMBER; Mode of pathogenicity: ; Publications: 31448844; Phenotypes: Myopathy, tubular aggregate, 2, OMIM:615883; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 NUP88 Achchuthan Shanmugasundram reviewed gene: NUP88: Rating: AMBER; Mode of pathogenicity: ; Publications: 30543681; Phenotypes: Fetal akinesia deformation sequence 4, OMIM:618393, Fetal akinesia deformation sequence 4, MONDO:0100104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 NUP188 Stephanie Allen reviewed gene: NUP188: Rating: GREEN; Mode of pathogenicity: ; Publications: 28726809, 32021605, 32275884; Phenotypes: microcephaly, ID, Sandestig-Stefanova syndrome, OMIM:618804, structural brain abnormalities, cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 NSRP1 Natalie Chandler reviewed gene: NSRP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34385670; Phenotypes: Intellectual disability, Neurodevelopmental disorder, MONDO:0700092, NSRP1-related, Cerebral palsy, microcephaly, Epilepsy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 NSD2 Lyn Chitty reviewed gene: NSD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 31171569, 30345613; Phenotypes: Rauch-Steindl syndrome, OMIM:619695; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 NPRL3 Natalie Chandler reviewed gene: NPRL3: Rating: RED; Mode of pathogenicity: ; Publications: 27173016, 33461085, 35136953, 26285051; Phenotypes: Epilepsy, familial focal, with variable foci 3, OMIM:617118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 NPRL2 Natalie Canham reviewed gene: NPRL2: Rating: RED; Mode of pathogenicity: ; Publications: 29281825, 31625153, 22268191, 27173016, 33461085; Phenotypes: Epilepsy, familial focal, with variable foci 2, OMIM:617116; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 NPL Denise Williams reviewed gene: NPL: Rating: RED; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Sialic aciduria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 NOVA2 Natalie Bibb reviewed gene: NOVA2: Rating: AMBER; Mode of pathogenicity: ; Publications: 32197073; Phenotypes: Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM:618859; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 NONO Anna de Burca reviewed gene: NONO: Rating: GREEN; Mode of pathogenicity: ; Publications: 27550220, 27329731, 32397791, 26571461; Phenotypes: Ebstein s anomaly, Pulmonary stenosis, Left ventricular non-compaction cardiomyopathy (LVNC), Mental retardation, X-linked, syndromic 34, MIM# 300967, Ventricular septal defect (VSD); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.35 NLRP3 Esther Kinning reviewed gene: NLRP3: Rating: RED; Mode of pathogenicity: ; Publications: 12928894, 12483741, 12032915; Phenotypes: CINCA syndrome, OMIM:607115; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 NKX2-6 Denise Williams reviewed gene: NKX2-6: Rating: RED; Mode of pathogenicity: ; Publications: 32198970, 15649947, 24421281, 25319568, 25380965; Phenotypes: Persistent truncus arteriosus, OMIM:217095, Conotruncal heart malformations, OMIM:217095; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 NID1 Achchuthan Shanmugasundram reviewed gene: NID1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30773799, 12480912, 25558065, 23674478; Phenotypes: Hydrocephalus with or without seizures, Dandy-Walker malformation and occipital cephalocele; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 NFIB Stephanie Allen reviewed gene: NFIB: Rating: GREEN; Mode of pathogenicity: ; Publications: 30388402, 32902921, 33130023; Phenotypes: Macrocephaly, acquired, with impaired intellectual development, OMIM:618286; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 NFIA Natalie Chandler reviewed gene: NFIA: Rating: GREEN; Mode of pathogenicity: ; Publications: 32926563, 35018717, 36553517, 33973697; Phenotypes: Brain malformations with or without urinary tract defects, OMIM:613735; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 NEXN Lyn Chitty reviewed gene: NEXN: Rating: AMBER; Mode of pathogenicity: ; Publications: 33949776, 33947203, 35166435, 32058062; Phenotypes: Lethal fetal cardiomyopathy, Cardiomyopathy, dilated 1CC, OMIM:613122, Hydrops fetalis; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v4.35 NCAPD2 Natalie Chandler reviewed gene: NCAPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27737959, 28097321, 31056748; Phenotypes: Microcephaly 21, primary, autosomal recessive, OMIM:617983; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 NAA15 Natalie Canham reviewed gene: NAA15: Rating: AMBER; Mode of pathogenicity: ; Publications: 31127942, 33557580; Phenotypes: Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, OMIM:617787; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 MYSM1 Achchuthan Shanmugasundram reviewed gene: MYSM1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Bone marrow failure syndrome 4, OMIM:618116; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MYOD1 Natalie Bibb reviewed gene: MYOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30403323, 26733463, 31260566; Phenotypes: Myopathy, congenital, with diaphragmatic defects, respiratory insufficiency, and dysmorphic facies, OMIM:618975; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MYBPC3 Esther Kinning reviewed gene: MYBPC3: Rating: AMBER; Mode of pathogenicity: ; Publications: 19858127, 16679492, 17937428; Phenotypes: Cardiomyopathy, hypertrophic, 4, OMIM:115197, Neonatal hypertrophic cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MVK Denise Williams reviewed gene: MVK: Rating: AMBER; Mode of pathogenicity: ; Publications: 27012807, 16722536; Phenotypes: Hyper-IgD syndrome, OMIM:260920, Mevalonic aciduria, OMIM:610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MTX2 Achchuthan Shanmugasundram reviewed gene: MTX2: Rating: RED; Mode of pathogenicity: ; Publications: 32917887; Phenotypes: Mandibuloacral dysplasia progeroid syndrome, OMIM:619127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MT-TL1 Stephanie Allen reviewed gene: MT-TL1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Mitochondrial tRNA deficiency; Mode of inheritance: MITOCHONDRIAL
Fetal anomalies v4.35 MT-TE Natalie Chandler reviewed gene: MT-TE: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562, 17161635; Phenotypes: Mitochondrial tRNA deficiency; Mode of inheritance: MITOCHONDRIAL
Fetal anomalies v4.35 MPZ Stephanie Allen reviewed gene: MPZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypomyelinating neuropathy, congenital, 2, OMIM:618184; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 MPDZ Natalie Chandler reviewed gene: MPDZ: Rating: GREEN; Mode of pathogenicity: ; Publications: 29499638, 30518636, 23240096, 28556411; Phenotypes: Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MNS1 Lyn Chitty reviewed gene: MNS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30148830, 31534215; Phenotypes: Heterotaxy, male infertility, Heterotaxy, visceral, 9, autosomal, with male infertility, OMIM:618948; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MITF Natalie Chandler reviewed gene: MITF: Rating: AMBER; Mode of pathogenicity: ; Publications: 32541011, 27889061; Phenotypes: COMMAD syndrome, OMIM:617306; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MINPP1 Natalie Canham reviewed gene: MINPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33168985, 33257696; Phenotypes: Pontocerebellar hypoplasia, type 16, OMIM:619527; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MGAT2 Lyn Chitty reviewed gene: MGAT2: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: MGAT2-CDG; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MED27 Natalie Bibb reviewed gene: MED27: Rating: GREEN; Mode of pathogenicity: ; Publications: 33443317; Phenotypes: Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia - MIM#619286; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MED25 Anna de Burca reviewed gene: MED25: Rating: GREEN; Mode of pathogenicity: ; Publications: 32324310, 25792360, 32816121; Phenotypes: Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643, hypospadias, thin corpus callosum, cerebral ventricular dilatation, multiple congenital anomalies, congenital heart defects, Basel-Vanagait-Smirin-Yosef syndrome, OMIM:616449; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MED17 Esther Kinning reviewed gene: MED17: Rating: AMBER; Mode of pathogenicity: ; Publications: 33756211, 30345598; Phenotypes: Microcephaly, postnatal progressive, with seizures and brain atrophy, OMIM:613668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MCIDAS Denise Williams reviewed gene: MCIDAS: Rating: GREEN; Mode of pathogenicity: ; Publications: 25048963, 32802948, 30237576; Phenotypes: Hydrocephalus, Ciliary dyskinesia, primary, 42, OMIM:618695, Choroid plexus hyperplasia, Arachnoid cyst; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MBTPS1 Achchuthan Shanmugasundram reviewed gene: MBTPS1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32857899, 32420688, 30046013; Phenotypes: Skeletal dysplasia, no OMIM #; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MAST1 Stephanie Allen reviewed gene: MAST1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32818970, 32198973, 31721002, 30449657; Phenotypes: cerebellar hypoplasia, corpus callosum anomalies, cortical malformations, Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, OMIM:61827; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 MAPKAPK5 Natalie Chandler reviewed gene: MAPKAPK5: Rating: GREEN; Mode of pathogenicity: ; Publications: 35575217, 33442026; Phenotypes: Developmental delay, variable brain anomalies, congenital heart defects, dysmorphic; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MAPK8IP3 Lyn Chitty reviewed gene: MAPK8IP3: Rating: AMBER; Mode of pathogenicity: ; Publications: 30945334, 30612693; Phenotypes: cerebral atrophy, Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443, corpus callosum anomalies, polymicrogyria; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v4.35 MAPK1 Natalie Chandler reviewed gene: MAPK1: Rating: AMBER; Mode of pathogenicity: ; Publications: 32721402; Phenotypes: Noonan syndrome 13, OMIM:619087; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 MAP1B Natalie Canham reviewed gene: MAP1B: Rating: AMBER; Mode of pathogenicity: ; Publications: 33772511, 30150678, 31317654, 30214071; Phenotypes: Polymicrogyria, Periventricular nodular heterotopia 9, OMIM:618918; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 MAN2C1 Natalie Bibb reviewed gene: MAN2C1: Rating: GREEN; Mode of pathogenicity: ; Publications: 35045343; Phenotypes: Congenital disorder of deglycosylation 2, MIM# 619775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 MAMLD1 Anna de Burca reviewed gene: MAMLD1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26815876, 31555317, 32690052; Phenotypes: Hypospadias 2, OMIM:300758; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 MAB21L1 Esther Kinning reviewed gene: MAB21L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30487245; Phenotypes: Cerebellar, ocular, craniofacial, and genital syndrome OMIM:618479; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 LTBP1 Denise Williams reviewed gene: LTBP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33991472; Phenotypes: Cutis laxa, autosomal recessive, type IIE, OMIM:619451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 LAGE3 Achchuthan Shanmugasundram reviewed gene: LAGE3: Rating: AMBER; Mode of pathogenicity: ; Publications: 31069511, 28805828; Phenotypes: Galloway-Mowat syndrome 2, X-linked, OMIM:301006; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 KIF4A Stephanie Allen reviewed gene: KIF4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 34346154, 30679815, 24812067; Phenotypes: Hydrocephalus, Intellectual developmental disorder, X-linked 100, OMIM:300923; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 KIF21B Natalie Chandler reviewed gene: KIF21B: Rating: AMBER; Mode of pathogenicity: ; Publications: 32415109; Phenotypes: Global developmental delay, Neurodevelopmental disorder, MONDO:0700092, Intellectual disability, Abnormality of brain morphology, Microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 KIDINS220 Lyn Chitty reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: ; Publications: 32909676, 33205811, 22048169, 28934391; Phenotypes: cerebral ventriculomegaly, spastic paraplegia, intellectual disability, nystagmus, and obesity MONDO:0015007, Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296, limb contractures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 KIAA0825 Natalie Chandler reviewed gene: KIAA0825: Rating: AMBER; Mode of pathogenicity: ; Publications: 30982135, 32147526, 33776623; Phenotypes: Polydactyly, postaxial, type A10, OMIM:618498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 KIAA0556 Natalie Canham reviewed gene: KIAA0556: Rating: RED; Mode of pathogenicity: ; Publications: 27245168, 26714646; Phenotypes: Joubert syndrome 26, OMIM:616784; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 KDM1A Natalie Bibb reviewed gene: KDM1A: Rating: AMBER; Mode of pathogenicity: ; Publications: 27094131, 24838796, 26656649; Phenotypes: Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 KCNQ1 Anna de Burca reviewed gene: KCNQ1: Rating: RED; Mode of pathogenicity: ; Publications: 27539165; Phenotypes: Long QT syndrome 1, OMIM:192500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v4.35 KCNJ8 Esther Kinning reviewed gene: KCNJ8: Rating: AMBER; Mode of pathogenicity: ; Publications: 24176758, 25275207, 24700710; Phenotypes: Cantu syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 KCNH1 Denise Williams reviewed gene: KCNH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33811134; Phenotypes: Zimmermann-Laband syndrome 1, OMIM:135500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 KAT5 Achchuthan Shanmugasundram reviewed gene: KAT5: Rating: AMBER; Mode of pathogenicity: ; Publications: 32822602; Phenotypes: Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities, OMIM:619103; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 JAM3 Stephanie Allen reviewed gene: JAM3: Rating: GREEN; Mode of pathogenicity: ; Publications: 23255084, 21109224; Phenotypes: Haemorrhagic destruction of the brain, subependymal calcification, and cataracts, OMIM:613730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ITPR1 Samantha Doyle reviewed gene: ITPR1: Rating: RED; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Spinocerebellar ataxia 29, congenital nonprogressive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 IRX5 Natalie Chandler reviewed gene: IRX5: Rating: GREEN; Mode of pathogenicity: ; Publications: 22581230, 34899143, 29168297; Phenotypes: Hamamy syndrome, OMIM:611174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 IQCE Lyn Chitty reviewed gene: IQCE: Rating: AMBER; Mode of pathogenicity: ; Publications: 28488682, 31549751; Phenotypes: Polydactyly, postaxial, type A7 OMIM:617642; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 INTS1 Natalie Chandler reviewed gene: INTS1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28542170, 31428919, 30622326; Phenotypes: Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:61857; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 IKZF1 Natalie Canham reviewed gene: IKZF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Immunodeficiency, common variable, 13, OMIM:616873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 IFT74 Natalie Canham reviewed gene: IFT74: Rating: GREEN; Mode of pathogenicity: ; Publications: 32144365, 27486776, 33531668; Phenotypes: Bardet-Biedl syndrome 22, OMIM:617119, Joubert syndrome 40, OMIM:619582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 IFT27 Natalie Bibb reviewed gene: IFT27: Rating: AMBER; Mode of pathogenicity: ; Publications: 25443296, 24488770, 26763875, 30761183; Phenotypes: Bardet-Biedl syndrome 19, OMIM:615996; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 HYAL2 Anna de Burca reviewed gene: HYAL2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23172227, 28081210, 26515055, 34906488; Phenotypes: congenital cardiac malformations, Cleft lip and palate, cor triatriatum; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 HSPA9 Esther Kinning reviewed gene: HSPA9: Rating: GREEN; Mode of pathogenicity: ; Publications: 26598328, 26491070, 32869452; Phenotypes: Anemia, sideroblastic, 4, OMIM:182170, Even-plus syndrome, OMIM:616854; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 HS2ST1 Denise Williams reviewed gene: HS2ST1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33159882; Phenotypes: arthrogryposis, Neurofacioskeletal syndrome with or without renal agenesis, OMIM:619194, multiple congenital anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 HOXA2 Achchuthan Shanmugasundram reviewed gene: HOXA2: Rating: RED; Mode of pathogenicity: ; Publications: 32649979, 27503514, 28109504, 18394579, 23775976, 31567444; Phenotypes: Microtia with or without hearing impairment (AD), OMIM:612290; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 HNRNPH2 Stephanie Allen reviewed gene: HNRNPH2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31236915, 30887513, 34907471, 31670473, 33728377; Phenotypes: Intellectual developmental disorder, X-linked, syndromic, Bain type, OMIM:300986; 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 v4.35 HMX1 Natalie Chandler reviewed gene: HMX1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25574057, 18423520; Phenotypes: Oculoauricular syndrome, OMIM:612109; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 HMGB1 Lyn Chitty reviewed gene: HMGB1: Rating: RED; Mode of pathogenicity: ; Publications: 34164801; Phenotypes: Neurodevelopmental disorder MONDO:0700092, HMGB1-related, intellectual disability, microcephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 HK1 Natalie Bibb reviewed gene: HK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: Hexokinase deficiency; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v4.35 HIST1H4C Natalie Chandler reviewed gene: HIST1H4C: Rating: AMBER; Mode of pathogenicity: ; Publications: 28920961, 35202563; Phenotypes: Growth delay, microcephaly and intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 HHAT Natalie Canham reviewed gene: HHAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 33749989, 30912300, 24784881; Phenotypes: Nivelon-Nivelon-Mabille syndrome, OMIM:600092; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 HERC1 Natalie Bibb reviewed gene: HERC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28323226, 26138117, 27108999, 26153217; Phenotypes: Macrocephaly, dysmorphic facies, and psychomotor retardation, OMIM:617011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 H3F3A Anna de Burca reviewed gene: H3F3A: Rating: GREEN; Mode of pathogenicity: ; Publications: 33268356; Phenotypes: Bryant-Li-Bhoj neurodevelopmental syndrome 1, OMIM:619720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 GTPBP2 Esther Kinning reviewed gene: GTPBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29449720, 30790272, 26675814; Phenotypes: Jaberi-Elahi syndrome, OMIM:617988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 GRM7 Denise Williams reviewed gene: GRM7: Rating: GREEN; Mode of pathogenicity: ; Publications: 32286009, 32248644; Phenotypes: Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 GPX4 Achchuthan Shanmugasundram reviewed gene: GPX4: Rating: GREEN; Mode of pathogenicity: ; Publications: 24706940, 32827718; Phenotypes: Spondylometaphyseal dysplasia, Sedaghatian type MIM#250220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 GLMN Anna de Burca reviewed gene: GLMN: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562, 23801931; Phenotypes: Plaque-Type Glomuvenous Malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 GHR Stephanie Allen reviewed gene: GHR: Rating: GREEN; Mode of pathogenicity: ; Publications: 9360502; Phenotypes: Growth hormone insensitivity, partial, OMIM:604271, Laron dwarfism, OMIM:262500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 GFRA1 Natalie Chandler reviewed gene: GFRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 36292572, 34737117, 33020172; Phenotypes: Renal agenesis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 GDF11 Lyn Chitty reviewed gene: GDF11: Rating: GREEN; Mode of pathogenicity: ; Publications: 31215115, 34113007; Phenotypes: ?Vertebral hypersegmentation and orofacial anomalies, OMIM:619122; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 GATA5 Esther Kinning reviewed gene: GATA5: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: congenital heart defects and genital anomalies, Congenital heart defects, multiple types, 5, Hydrops fetalis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 GATA1 Natalie Chandler reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10700180, 30914438, 29949202; Phenotypes: Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, OMIM:300835; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 GABRB2 Natalie Canham reviewed gene: GABRB2: Rating: AMBER; Mode of pathogenicity: ; Publications: 33325057, 27789573, 29100083; Phenotypes: Developmental and epileptic encephalopathy 92, OMIM:617829; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 G6PD Denise Williams reviewed gene: G6PD: Rating: RED; Mode of pathogenicity: ; Publications: 33082562; 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 v4.35 FRMPD4 Natalie Bibb reviewed gene: FRMPD4: Rating: RED; Mode of pathogenicity: ; Publications: 25644381, 29267967; Phenotypes: Intellectual Disability, X-linked 104, OMIM:300983; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 FRA10AC1 Anna de Burca reviewed gene: FRA10AC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34694367; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, FRA10AC1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 FOXJ1 Esther Kinning reviewed gene: FOXJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31630787; Phenotypes: Ciliary dyskinesia, primary, 43, OMIM:618699; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 FGF9 Denise Williams reviewed gene: FGF9: Rating: AMBER; Mode of pathogenicity: ; Publications: 33174625, 19589401, 28730625, 33140402, 19219044; Phenotypes: Multiple synostoses syndrome 3, OMIM:612961; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 FBXW11 Achchuthan Shanmugasundram reviewed gene: FBXW11: Rating: AMBER; Mode of pathogenicity: ; Publications: 31402090; Phenotypes: Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 FBRSL1 Stephanie Allen reviewed gene: FBRSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32424618, 34805182; Phenotypes: congenital heart defect, Congenital malformations; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 FAT1 Natalie Chandler reviewed gene: FAT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 34013115, 33418956, 34202629, 26905694, 32902815, 30862798; Phenotypes: hand and foot anomalies, nephropathy, ocular anomalies, multiple congenital anomalies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 FAM149B1 Lyn Chitty reviewed gene: FAM149B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30905400; Phenotypes: Joubert syndrome 36, OMIM:618763; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 EXOSC9 Natalie Chandler reviewed gene: EXOSC9: Rating: AMBER; Mode of pathogenicity: ; Publications: 30690203, 33040083, 29727687; Phenotypes: Pontocerebellar hypoplasia, type 1D, OMIM:618065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 EXOSC8 Natalie Canham reviewed gene: EXOSC8: Rating: AMBER; Mode of pathogenicity: ; Publications: 24989451, 34210538; Phenotypes: Pontocerebellar hypoplasia, type 1C, OMIM:616081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 EXOSC5 Natalie Bibb reviewed gene: EXOSC5: Rating: AMBER; Mode of pathogenicity: ; Publications: 32504085, 29302074; Phenotypes: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, OMIM:619576; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 EXOC7 Anna de Burca reviewed gene: EXOC7: Rating: GREEN; Mode of pathogenicity: ; Publications: 32103185; Phenotypes: Neurodevelopmental disorder with seizures and brain atrophy, OMIM:619072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ERGIC1 Esther Kinning reviewed gene: ERGIC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31230720, 28317099, 34037256; Phenotypes: Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ERBB3 Denise Williams reviewed gene: ERBB3: Rating: GREEN; Mode of pathogenicity: ; Publications: 17701904, 31752936, 33720042; Phenotypes: Lethal congenital contractural syndrome 2, OMIM:607598; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 EN1 Achchuthan Shanmugasundram reviewed gene: EN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 33568816; Phenotypes: ENDOVE syndrome, limb-brain type - OMIM#619218; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 EMC1 Stephanie Allen reviewed gene: EMC1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29271071, 26942288; Phenotypes: Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 EIF3F Natalie Chandler reviewed gene: EIF3F: Rating: AMBER; Mode of pathogenicity: ; Publications: 33736665; Phenotypes: Intellectual developmental disorder, autosomal recessive 67, OMIM:618295; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 EFEMP2 Lyn Chitty reviewed gene: EFEMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19664000, 23532871, 31548410, 30140196; Phenotypes: Cutis laxa, autosomal recessive, type IB, OMIM:614437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 EEF2 Natalie Chandler reviewed gene: EEF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33355653; Phenotypes: hydrocephalus, Neurodevelopmental disorder, macrocephaly; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 EDN3 Natalie Canham reviewed gene: EDN3: Rating: AMBER; Mode of pathogenicity: ; Publications: 9359047, 27370713, 11303518, 10231870, 8630502, 30171849; Phenotypes: Central hypoventilation syndrome, congenital, OMIM:209880, Waardenburg syndrome, type 4B, OMIM:613265, {Hirschsprung disease, susceptibility to, 4}, OMIM:613712; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 DYNC1I2 Natalie Bibb reviewed gene: DYNC1I2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31079899; Phenotypes: Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 DYNC1I1 Anna de Burca reviewed gene: DYNC1I1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32219838, 25231166, 22914741; Phenotypes: Split-hand/split-foot malformation (SHFM); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 DPH1 Esther Kinning reviewed gene: DPH1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32732226, 30877278, 29362492, 25558065; Phenotypes: Developmental delay with short stature, dysmorphic facial features, and sparse hair, OMIM:616901; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 DPF2 Denise Williams reviewed gene: DPF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 29429572, 31706665; Phenotypes: Coffin-Siris syndrome 7, OMIM:618027; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 DOCK7 Achchuthan Shanmugasundram reviewed gene: DOCK7: Rating: AMBER; Mode of pathogenicity: ; Publications: 30807358, 24814191, 30771731; Phenotypes: Developmental and epileptic encephalopathy 23, OMIM:615859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 DNAJC19 Stephanie Allen reviewed gene: DNAJC19: Rating: AMBER; Mode of pathogenicity: ; Publications: 17244376, 22797137, 16055927; Phenotypes: 3-methylglutaconic aciduria, type V, OMIM:610198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 DLL1 Natalie Chandler reviewed gene: DLL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 31353024; Phenotypes: Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, OMIM:618709; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 DICER1 Lyn Chitty reviewed gene: DICER1: Rating: RED; Mode of pathogenicity: ; Publications: 35114704, 29343557, 33208384, 31232238, 27960159, 24676357, 26227654; Phenotypes: GLOW syndrome, somatic mosaic, OMIM:618272, Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors , OMIM:138800, Pleuropulmonary blastoma, OMIM:601200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 DEPDC5 Natalie Chandler reviewed gene: DEPDC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 36067010, 32848577; Phenotypes: Epilepsy, familial focal, with variable foci 1 MIM#604364 biallelic only; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 DEAF1 Natalie Canham reviewed gene: DEAF1: Rating: RED; Mode of pathogenicity: ; Publications: 28940898, 30923367, 26048982, 24726472, 26834045; Phenotypes: Vulto-van Silfout-de Vries syndrome, OMIM:615828, Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, OMIM:617171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 DDX6 Natalie Bibb reviewed gene: DDX6: Rating: RED; Mode of pathogenicity: ; Publications: 31422817; Phenotypes: Intellectual developmental disorder with impaired language and dysmorphic facies, OMIM:618653; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 DCC Anna de Burca reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: ; Publications: 28250454, 28250456, 20431009, 21242494, 31697046; Phenotypes: Mirror movements 1 and/or agenesis of the corpus callosum, OMIM #157600, Gaze palsy, familial horizontal, with progressive scoliosis, 2,OMIM # 617542; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 D2HGDH Esther Kinning reviewed gene: D2HGDH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: D-2-hydroxyglutaric aciduria, OMIM:600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CYBB Achchuthan Shanmugasundram reviewed gene: CYBB: Rating: GREEN; Mode of pathogenicity: ; Publications: 16795136, 33082562; Phenotypes: X-linked Chronic granulomatous disease; 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 v4.35 CWF19L1 Denise Williams reviewed gene: CWF19L1: Rating: AMBER; Mode of pathogenicity: ; Publications: 27016154; Phenotypes: Spinocerebellar ataxia, autosomal recessive 17, OMIM:616127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CTNNA2 Achchuthan Shanmugasundram reviewed gene: CTNNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 30013181; Phenotypes: Cortical dysplasia, complex, with other brain malformations 9, MIM#618174; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CTDP1 Stephanie Allen reviewed gene: CTDP1: Rating: AMBER; Mode of pathogenicity: ; Publications: 20301787, 14517542, 24690360, 29174527, 25529582; Phenotypes: Congenital cataracts, facial dysmorphism, and neuropathy, OMIM:604168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CPAMD8 Natalie Chandler reviewed gene: CPAMD8: Rating: AMBER; Mode of pathogenicity: ; Publications: 32274568; Phenotypes: Anterior segment dysgenesis 8, OMIM: 617319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 COLGALT1 Lyn Chitty reviewed gene: COLGALT1: Rating: AMBER; Mode of pathogenicity: ; Publications: 31759980, 30412317, 33709034; Phenotypes: Brain small vessel disease 3, OMIM:618360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 COL9A3 Natalie Chandler reviewed gene: COL9A3: Rating: RED; Mode of pathogenicity: ; Publications: 15551337, 31090205, 25381065, 24273071, 33570243, 30450842; Phenotypes: Stickler syndrome, type VI, OMIM:620022, Epiphyseal dysplasia, multiple, 3, with or without myopathy, OMIM:600969; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.35 COL27A1 Natalie Canham reviewed gene: COL27A1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24986830, 28276056, 28322503; Phenotypes: Steel syndrome, OMIM:615155; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 COL25A1 Natalie Bibb reviewed gene: COL25A1: Rating: RED; Mode of pathogenicity: ; Publications: 26437029, 35077597; Phenotypes: Arthrogryposis multiplex congenita, MONDO:0015168; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 COA7 Natalie Chandler reviewed gene: COA7: Rating: GREEN; Mode of pathogenicity: ; Publications: 27683825, 29718187; Phenotypes: the cerebellum and brainstem were spared but the spinal cord was thin with no obvious focal lesions, Brain and spinal cord MRI showed mild extension of signal abnormalities and extensive cavitations in the cerebral white matter; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CLTC Anna de Burca reviewed gene: CLTC: Rating: GREEN; Mode of pathogenicity: ; Publications: 33743358, 26822784, 31776469, 34230591, 29100083; Phenotypes: Mental retardation, autosomal dominant 56, MIM# 617854; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 CLMP Esther Kinning reviewed gene: CLMP: Rating: RED; Mode of pathogenicity: ; Publications: 22155368; Phenotypes: Congenital short bowel syndrome, OMIM:615237; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CLCNKB Denise Williams reviewed gene: CLCNKB: Rating: AMBER; Mode of pathogenicity: ; Publications: 18310267, 29254190; Phenotypes: Bartter syndrome, type 3, OMIM:607364, Bartter syndrome, type 4b, digenic, OMIM:613090; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CITED2 Achchuthan Shanmugasundram reviewed gene: CITED2: Rating: AMBER; Mode of pathogenicity: ; Publications: 16287139, 29536580, 33706167, 31515672, 11694877, 33439552; Phenotypes: Atrial septal defect 8, OMIM:614433, Ventricular septal defect 2, OMIM:614431, Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 CFAP52 Stephanie Allen reviewed gene: CFAP52: Rating: GREEN; Mode of pathogenicity: ; Publications: 33139725, 25469542; Phenotypes: Heterotaxy, visceral, 10, autosomal, with male infertility, OMIM:619607; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CFAP45 Natalie Chandler reviewed gene: CFAP45: Rating: GREEN; Mode of pathogenicity: ; Publications: 33139725; Phenotypes: Heterotaxy, visceral, 11, autosomal, with male infertility, OMIM:619608; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CEP85L Lyn Chitty reviewed gene: CEP85L: Rating: GREEN; Mode of pathogenicity: ; Publications: 32097630; Phenotypes: Lissencephaly 10, posterior predominant, OMIM:618873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 CELSR1 Natalie Chandler reviewed gene: CELSR1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26855770, 31215153, 31403174; Phenotypes: Lymphatic malformation 9, OMIM:619319; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 CCDC22 Natalie Canham reviewed gene: CCDC22: Rating: GREEN; Mode of pathogenicity: ; Publications: 24916641, 21826058, 34020006, 31971710, 33059814; Phenotypes: Ritscher-Schinzel syndrome 2, OMIM:300963; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 CAPN15 Natalie Bibb reviewed gene: CAPN15: Rating: AMBER; Mode of pathogenicity: ; Publications: 32885237; Phenotypes: microphthalmia HP:0000568, coloboma HP:0000589, Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CALCRL Stephanie Allen reviewed gene: CALCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562, 30115739, 16537897; Phenotypes: Lymphatic Malformation 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 CACNA1D Anna de Burca reviewed gene: CACNA1D: Rating: AMBER; Mode of pathogenicity: ; Publications: 28472301, 25620733, 31921405; Phenotypes: Primary aldosteronism, seizures, and neurologic abnormalities, OMIM:615474; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 CACNA1A Natalie Chandler reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: 27476654; Phenotypes: Developmental and epileptic encephalopathy 42, OMIM:617106; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 C2orf69 Esther Kinning reviewed gene: C2orf69: Rating: GREEN; Mode of pathogenicity: ; Publications: 33945503, 34038740; Phenotypes: Combined oxidative phosphorylation deficiency 53, OMIM:619423; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 C12orf57 Denise Williams reviewed gene: C12orf57: Rating: GREEN; Mode of pathogenicity: ; Publications: 31853307, 29383837; Phenotypes: Temtamy syndrome, OMIM:218340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 BRF1 Achchuthan Shanmugasundram reviewed gene: BRF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 27748960, 25561519; Phenotypes: Cerebellofaciodental syndrome, OMIM:616202; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 BRD4 Stephanie Allen reviewed gene: BRD4: Rating: GREEN; Mode of pathogenicity: ; Publications: 34035299, 30302754, 29379197, 11997514; Phenotypes: Cornelia de Lange syndrome, MONDO:0016033; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 BRCA1 Natalie Chandler reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29712865, 29133208, 34680915; Phenotypes: Fanconi anaemia, complementation group S, OMIM:617883; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 BCAS3 Lyn Chitty reviewed gene: BCAS3: Rating: AMBER; Mode of pathogenicity: ; Publications: 34022130; Phenotypes: Hengel-Maroofian-Schols syndrome, OMIM:619641; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 B9D1 Natalie Chandler reviewed gene: B9D1: Rating: AMBER; Mode of pathogenicity: ; Publications: 34338422, 25920555, 32622957, 21763481, 21493627, 24886560; Phenotypes: Joubert syndrome 27, MONDO:0014927, Joubert syndrome 27, OMIM:617120, Meckel syndrome 9, OMIM:614209, Meckel syndrome 9, MONDO:0013630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 AUTS2 Natalie Canham reviewed gene: AUTS2: Rating: RED; Mode of pathogenicity: ; Publications: 23332918, 25205402, 31474318; Phenotypes: Intellectual developmental disorder, autosomal dominant 26, OMIM:615834; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ATP6V1B2 Natalie Bibb reviewed gene: ATP6V1B2: Rating: RED; Mode of pathogenicity: ; Publications: 28396750, 24913193, 25915598; Phenotypes: Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480, Zimmermann-Laband syndrome 2, OMIM:616455; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ATP1A3 Anna de Burca reviewed gene: ATP1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: 33880529, 33762331; Phenotypes: Polymicrogyria, Developmental and epileptic encephalopathy 99, OMIM:619606; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ATP11C Samantha Doyle reviewed gene: ATP11C: Rating: AMBER; Mode of pathogenicity: ; Publications: 33082562; Phenotypes: X-linked hemolytic anemia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 ATN1 Esther Kinning reviewed gene: ATN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30827498, 34212383; Phenotypes: Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ATAD1 Denise Williams reviewed gene: ATAD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 29390050, 29659736, 28180185; Phenotypes: Hyperekplexia 4, OMIM:618011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ASXL2 Achchuthan Shanmugasundram reviewed gene: ASXL2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27693232, 33751773; Phenotypes: Shashi-Pena syndrome, OMIM:617190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ARL3 Stephanie Allen reviewed gene: ARL3: Rating: GREEN; Mode of pathogenicity: ; Publications: 30269812, 16565502; Phenotypes: Joubert syndrome 35, OMIM:618161; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ARID2 Natalie Chandler reviewed gene: ARID2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28884947, 26238514, 35813374, 30838730, 28124119, 29698805; Phenotypes: Coffin-Siris syndrome 6, OMIM:617808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ARF1 Lyn Chitty reviewed gene: ARF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 28868155, 34353862; Phenotypes: Periventricular nodular heterotopia 8, OMIM:618185; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 APC2 Natalie Chandler reviewed gene: APC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 31585108; Phenotypes: Cortical dysplasia, complex, with other brain malformations 10, OMIM:618677; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 AP4S1 Natalie Canham reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: ; Publications: 30283821, 25552650, 31915823, 27444738, 32216065, 21620353, 32979048; Phenotypes: Spastic paraplegia 52, autosomal recessive, OMIM:614067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 AP4M1 Natalie Bibb reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29096665, 21937992, 19559397, 28464862, 31915823, 25496299, 32979048; Phenotypes: Spastic paraplegia 50, autosomal recessive, OMIM:612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 AP4B1 Anna de Burca reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24781758, 24700674, 32166732, 31525725, 32171285, 22290197, 21620353, 32979048; Phenotypes: Hereditary spastic paraplegia 47, MONDO:0013551, Spastic paraplegia 47, autosomal recessive, OMIM:614066; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ANKRD17 Esther Kinning reviewed gene: ANKRD17: Rating: AMBER; Mode of pathogenicity: ; Publications: 33909992; Phenotypes: multiple congenital malformations, Chopra-Amiel-Gordon syndrome, OMIM:619504; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ANKLE2 Denise Williams reviewed gene: ANKLE2: Rating: AMBER; Mode of pathogenicity: ; Publications: 31735666, 25259927, 30214071; Phenotypes: Microcephaly 16, primary, autosomal recessive, OMIM:616681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ANGPT2 Achchuthan Shanmugasundram reviewed gene: ANGPT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 32908006, 34876502; Phenotypes: Hydrops fetalis, MONDO:0015193, Lymphatic malformation-10, MIM#619369; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Fetal anomalies v4.35 AMBRA1 Stephanie Allen reviewed gene: AMBRA1: Rating: RED; Mode of pathogenicity: ; Publications: 32333458, 17589504; Phenotypes: Neural tube defects; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ALPK3 Natalie Chandler reviewed gene: ALPK3: Rating: GREEN; Mode of pathogenicity: ; Publications: 26846950, 28630369; Phenotypes: Cardiomyopathy, familial hypertrophic 27, OMIM:618052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ALG14 Lyn Chitty reviewed gene: ALG14: Rating: GREEN; Mode of pathogenicity: ; Publications: 34971077, 23404334, 28733338, 30221345; Phenotypes: ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227, Myopathy, epilepsy, and progressive cerebral atrophy, OMIM:619036; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ALDH1A2 Natalie Chandler reviewed gene: ALDH1A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 33565183, 36263470; Phenotypes: Multiple congenital anomalies, ALDH1A2-related, MONDO:0019042; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ALB Natalie Canham reviewed gene: ALB: Rating: RED; Mode of pathogenicity: ; Publications: 31057599, 15300429, 23730173; Phenotypes: Analbuminemia, OMIM:616000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 AIMP1 Natalie Bibb reviewed gene: AIMP1: Rating: RED; Mode of pathogenicity: ; Publications: 32531460, 33402283, 21092922, 24958424, 30477741, 30486714, 26173967; Phenotypes: Leukodystrophy, hypomyelinating, 3, OMIM:260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 AGT Anna de Burca reviewed gene: AGT: Rating: AMBER; Mode of pathogenicity: ; Publications: 33163725, 34234805, 16116425; Phenotypes: Renal tubular dysgenesis, OMIM:267430; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 AFF3 Esther Kinning reviewed gene: AFF3: Rating: GREEN; Mode of pathogenicity: ; Publications: 31388108, 33961779; Phenotypes: KINSSHIP syndrome, OMIM:619297; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ADCY6 Denise Williams reviewed gene: ADCY6: Rating: GREEN; Mode of pathogenicity: ; Publications: 33820833, 26257172, 24319099, 31846058; Phenotypes: Lethal congenital contracture syndrome 8, OMIM:616287, MONDO:0014570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ADAMTS19 Achchuthan Shanmugasundram reviewed gene: ADAMTS19: Rating: AMBER; Mode of pathogenicity: ; Publications: 31844321, 32323311; Phenotypes: Heart valve disorder, MONDO:0002869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 ACVRL1 Stephanie Allen reviewed gene: ACVRL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21988128, 26126400, 32170914; Phenotypes: Telangiectasia, hereditary hemorrhagic, type 2, OMIM:600376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ACVR1 Natalie Chandler reviewed gene: ACVR1: Rating: AMBER; Mode of pathogenicity: ; Publications: 16642017, 29089047; Phenotypes: Fibrodysplasia ossificans progressiva, OMIM:135100, Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.35 ACSL4 Lyn Chitty reviewed gene: ACSL4: Rating: RED; Mode of pathogenicity: ; Publications: 12525535; Phenotypes: Mental retardation, X-linked 63 , OMIM:300387; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Fetal anomalies v4.35 ABHD16A Natalie Chandler reviewed gene: ABHD16A: Rating: AMBER; Mode of pathogenicity: ; Publications: 34866177, 34489854, 34587489; Phenotypes: Spastic paraplegia 86, autosomal recessive, OMIM:619735; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.35 AARS Natalie Canham reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: 25817015, 28493438; Phenotypes: Developmental and epileptic encephalopathy 29, OMIM:616339, Developmental and epileptic encephalopathy, 29, MONDO:0014593; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.34 ZNHIT3 Achchuthan Shanmugasundram gene: ZNHIT3 was added
gene: ZNHIT3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNHIT3 were set to 28335020; 31048081
Phenotypes for gene: ZNHIT3 were set to PEHO syndrome, OMIM:260565
Fetal anomalies v4.34 ZNF699 Achchuthan Shanmugasundram gene: ZNF699 was added
gene: ZNF699 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ZNF699 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF699 were set to 33875846
Phenotypes for gene: ZNF699 were set to DEGCAGS syndrome, OMIM:619488
Fetal anomalies v4.34 ZNF526 Achchuthan Shanmugasundram gene: ZNF526 was added
gene: ZNF526 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ZNF526 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF526 were set to 33397746; 21937992; 25558065
Phenotypes for gene: ZNF526 were set to Dentici-Novelli neurodevelopmental syndrome, OMIM:619877
Fetal anomalies v4.34 ZNF462 Achchuthan Shanmugasundram Source NHS GMS was added to ZNF462.
Mode of inheritance for gene ZNF462 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Weiss-Kruszka syndrome, OMIM:618619 for gene: ZNF462
Publications for gene: ZNF462 were updated from to 28513610; 31361404
Fetal anomalies v4.34 ZNF335 Achchuthan Shanmugasundram gene: ZNF335 was added
gene: ZNF335 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ZNF335 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZNF335 were set to 23178126; 34982360; 29652087; 27540107
Phenotypes for gene: ZNF335 were set to Microcephaly 10, primary, autosomal recessive, OMIM:615095
Fetal anomalies v4.34 ZMIZ1 Achchuthan Shanmugasundram gene: ZMIZ1 was added
gene: ZMIZ1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ZMIZ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZMIZ1 were set to 30639322; 31879022
Phenotypes for gene: ZMIZ1 were set to Neurodevelopmental disorder with dysmorphic facies and distal skeletal anomalies, OMIM:618659
Fetal anomalies v4.34 ZBTB24 Achchuthan Shanmugasundram gene: ZBTB24 was added
gene: ZBTB24 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZBTB24 were set to 21596365; 21906047; 32061411; 29023266; 32865561; 22786748; 23739126; 28128455
Phenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 2, OMIM:614069
Fetal anomalies v4.34 YRDC Achchuthan Shanmugasundram gene: YRDC was added
gene: YRDC was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: YRDC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YRDC were set to 31481669; 34545459
Phenotypes for gene: YRDC were set to Galloway-Mowat syndrome 10, OMIM:619609
Fetal anomalies v4.34 YIPF5 Achchuthan Shanmugasundram gene: YIPF5 was added
gene: YIPF5 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: YIPF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIPF5 were set to 33164986
Phenotypes for gene: YIPF5 were set to Microcephaly, epilepsy, and diabetes syndrome 2, OMIM:619278
Fetal anomalies v4.34 YIF1B Achchuthan Shanmugasundram gene: YIF1B was added
gene: YIF1B was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: YIF1B were set to 26077767; 32006098
Phenotypes for gene: YIF1B were set to Kaya-Barakat-Masson syndrome, OMIM:619125
Fetal anomalies v4.34 YAP1 Achchuthan Shanmugasundram Source NHS GMS was added to YAP1.
Mode of inheritance for gene YAP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Coloboma, ocular, with or without hearing impairment, cleft lip/palate, and/or mental retardation, OMIM:120433 for gene: YAP1
Publications for gene: YAP1 were updated from to 24462371; 28801591; 27267789
Fetal anomalies v4.34 WDR4 Achchuthan Shanmugasundram gene: WDR4 was added
gene: WDR4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: WDR4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR4 were set to 28617965; 26416026
Phenotypes for gene: WDR4 were set to Microcephaly, growth deficiency, seizures, and brain malformations, OMIM:618346
Fetal anomalies v4.34 WDR37 Achchuthan Shanmugasundram gene: WDR37 was added
gene: WDR37 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: WDR37 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: WDR37 were set to 31327508; 31327510
Phenotypes for gene: WDR37 were set to Neurooculocardiogenitourinary syndrome, OMIM:618652
Fetal anomalies v4.34 VPS4A Achchuthan Shanmugasundram gene: VPS4A was added
gene: VPS4A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: VPS4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: VPS4A were set to 33186543; 33186545
Phenotypes for gene: VPS4A were set to CIMDAG syndrome, OMIM:619273
Fetal anomalies v4.34 UBR7 Achchuthan Shanmugasundram gene: UBR7 was added
gene: UBR7 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: UBR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: UBR7 were set to 33340455
Phenotypes for gene: UBR7 were set to Li-Campeau syndrome, OMIM:619189
Fetal anomalies v4.34 UBA2 Achchuthan Shanmugasundram gene: UBA2 was added
gene: UBA2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: UBA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: UBA2 were set to 31332306; 31587267
Phenotypes for gene: UBA2 were set to ACCES syndrome, OMIM:619959
Fetal anomalies v4.34 TUBGCP2 Achchuthan Shanmugasundram gene: TUBGCP2 was added
gene: TUBGCP2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TUBGCP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TUBGCP2 were set to 31630790
Phenotypes for gene: TUBGCP2 were set to Pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures, OMIM:618737
Fetal anomalies v4.34 TTI2 Achchuthan Shanmugasundram Source NHS GMS was added to TTI2.
Source Expert Review Red was added to TTI2.
Added phenotypes Mental retardation, autosomal recessive 39, OMIM:615541; Microcephaly for gene: TTI2
Publications for gene: TTI2 were updated from to 32061250; 31737043; 23956177
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 TSHR Achchuthan Shanmugasundram Source NHS GMS was added to TSHR.
Mode of inheritance for gene TSHR was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hyperthyroidism, nonautoimmune, OMIM:609152; Hypothyroidism, congenital, nongoitrous, 1, OMIM:275200 for gene: TSHR
Publications for gene: TSHR were updated from to 18655531; 15163335; 23295291; 9360555; 7800007
Fetal anomalies v4.34 TRRAP Achchuthan Shanmugasundram gene: TRRAP was added
gene: TRRAP was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TRRAP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRRAP were set to 30827496
Phenotypes for gene: TRRAP were set to multiple congenital anomalies; Developmental delay with or without dysmorphic facies and autism, OMIM:618454
Fetal anomalies v4.34 TRNT1 Achchuthan Shanmugasundram gene: TRNT1 was added
gene: TRNT1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TRNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TRNT1 were set to 29055896; 33082562
Phenotypes for gene: TRNT1 were set to Sideroblastic anemia with B-cell immunodeficiency, periodic fevers, and developmental delay, OMIM:616084
Fetal anomalies v4.34 TRIO Achchuthan Shanmugasundram Source NHS GMS was added to TRIO.
Mode of inheritance for gene TRIO was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder, autosomal dominant 44, with microcephaly, OMIM:617061 for gene: TRIO
Publications for gene: TRIO were updated from to 32109419; 26721934
Fetal anomalies v4.34 TRIM71 Achchuthan Shanmugasundram gene: TRIM71 was added
gene: TRIM71 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TRIM71 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TRIM71 were set to 32168371; 29983323; 30975633
Phenotypes for gene: TRIM71 were set to Hydrocephalus, congenital communicating, 1, OMIM:618667
Fetal anomalies v4.34 TPO Achchuthan Shanmugasundram gene: TPO was added
gene: TPO was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TPO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TPO were set to 30662777; 34220711
Phenotypes for gene: TPO were set to Thyroid dyshormonogenesis 2A, OMIM:274500
Fetal anomalies v4.34 TP73 Achchuthan Shanmugasundram gene: TP73 was added
gene: TP73 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TP73 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TP73 were set to 34077761; 31130284
Phenotypes for gene: TP73 were set to Ciliary dyskinesia, primary, 47, and lissencephaly, OMIM:619466
Fetal anomalies v4.34 TOR1AIP1 Achchuthan Shanmugasundram gene: TOR1AIP1 was added
gene: TOR1AIP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TOR1AIP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TOR1AIP1 were set to 27342937; 24856141; 30723199; 32055997; 33215087; 31299614
Phenotypes for gene: TOR1AIP1 were set to congenital myasthenic syndrome; Muscular dystrophy, autosomal recessive, with rigid spine and distal joint contractures, OMIM:617072
Fetal anomalies v4.34 TOP2B Achchuthan Shanmugasundram gene: TOP2B was added
gene: TOP2B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TOP2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TOP2B were set to 31409799
Phenotypes for gene: TOP2B were set to B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, OMIM:609296
Fetal anomalies v4.34 TNFRSF11A Achchuthan Shanmugasundram gene: TNFRSF11A was added
gene: TNFRSF11A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TNFRSF11A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TNFRSF11A were set to 18606301; 32048120
Phenotypes for gene: TNFRSF11A were set to Osteopetrosis, autosomal recessive 7, OMIM:612301
Fetal anomalies v4.34 TMEM218 Achchuthan Shanmugasundram gene: TMEM218 was added
gene: TMEM218 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TMEM218 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM218 were set to 25161209; 33791682
Phenotypes for gene: TMEM218 were set to Joubert syndrome 39, OMIM:619562
Fetal anomalies v4.34 TLK2 Achchuthan Shanmugasundram gene: TLK2 was added
gene: TLK2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TLK2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: TLK2 were set to 34821460; 31558842; 29861108
Phenotypes for gene: TLK2 were set to Intellectual developmental disorder, autosomal dominant 57, OMIM:618050
Fetal anomalies v4.34 TG Achchuthan Shanmugasundram gene: TG was added
gene: TG was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TG were set to 28620499; 19169491; 18631008; 33832185; 12915634
Phenotypes for gene: TG were set to Thyroid dyshormonogenesis 3, OMIM:274700
Fetal anomalies v4.34 TBX22 Achchuthan Shanmugasundram Source NHS GMS was added to TBX22.
Mode of inheritance for gene TBX22 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)
Added phenotypes Abruzzo-Erickson syndrome, OMIM:302905; Cleft palate with ankyloglossia, OMIM:303400 for gene: TBX22
Publications for gene: TBX22 were updated from 22784330 to 22784330; 14729838; 17868388; 11559848; 12374769
Fetal anomalies v4.34 TBC1D1 Achchuthan Shanmugasundram gene: TBC1D1 was added
gene: TBC1D1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: TBC1D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TBC1D1 were set to 26572137
Phenotypes for gene: TBC1D1 were set to CAKUT
Fetal anomalies v4.34 TAOK1 Achchuthan Shanmugasundram gene: TAOK1 was added
gene: TAOK1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: TAOK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TAOK1 were set to 31230721; 35091509; 33565190
Phenotypes for gene: TAOK1 were set to Developmental delay with or without intellectual impairment or behavioral abnormalities, OMIM:619575
Fetal anomalies v4.34 SYT2 Achchuthan Shanmugasundram gene: SYT2 was added
gene: SYT2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SYT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SYT2 were set to 30533528; 25192047; 32250532; 32776697
Phenotypes for gene: SYT2 were set to Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive, OMIM:619461; Myasthenic syndrome, congenital, 7, presynaptic, OMIM:616040
Fetal anomalies v4.34 STT3B Achchuthan Shanmugasundram gene: STT3B was added
gene: STT3B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: STT3B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STT3B were set to 33082562
Phenotypes for gene: STT3B were set to Congenital disorder of glycosylation, type Ix, OMIM:615597
Fetal anomalies v4.34 STT3A Achchuthan Shanmugasundram gene: STT3A was added
gene: STT3A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: STT3A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: STT3A were set to 28424003; 30701557; 34653363; 23842455
Phenotypes for gene: STT3A were set to Congenital disorder of glycosylation, type Iw, autosomal recessive, OMIM:615596; Congenital disorder of glycosylation, type Iw, autosomal dominant, OMIM:619714
Fetal anomalies v4.34 STK4 Achchuthan Shanmugasundram gene: STK4 was added
gene: STK4 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: STK4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: STK4 were set to 22294732; 26117625; 22174160; 22952854
Phenotypes for gene: STK4 were set to T-cell immunodeficiency, recurrent infections, autoimmunity, and cardiac malformations, OMIM:614868
Fetal anomalies v4.34 STIM1 Achchuthan Shanmugasundram gene: STIM1 was added
gene: STIM1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: STIM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: STIM1 were set to 20876309; 31448844
Phenotypes for gene: STIM1 were set to Myopathy, tubular aggregate, OMIM:160565; Immunodeficiency 10, OMIM:612783; Stormorken syndrome, OMIM:185070
Fetal anomalies v4.34 STAT3 Achchuthan Shanmugasundram gene: STAT3 was added
gene: STAT3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: STAT3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: STAT3 were set to 31771449; 34366294; 30617622
Phenotypes for gene: STAT3 were set to Autoimmune disease, multisystem, infantile-onset, 1, OMIM:615952; Hyper-IgE recurrent infection syndrome, OMIM:147060
Fetal anomalies v4.34 SPTB Achchuthan Shanmugasundram gene: SPTB was added
gene: SPTB was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SPTB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPTB were set to 33761640; 33082562; 35819869
Phenotypes for gene: SPTB were set to Elliptocytosis-3, OMIM:617948; Anemia, neonatal hemolytic, fatal or near-fatal, OMIM:617948; Spherocytosis, type 2, OMIM:616649
Fetal anomalies v4.34 SPTA1 Achchuthan Shanmugasundram Source NHS GMS was added to SPTA1.
Source Expert Review Red was added to SPTA1.
Mode of inheritance for gene SPTA1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Elliptocytosis-2, OMIM:130600; Spherocytosis, type 3, OMIM:270970 for gene: SPTA1
Publications for gene: SPTA1 were updated from 31333484; 34132406 to 31333484; 33082562; 34132406
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 SPRED2 Achchuthan Shanmugasundram gene: SPRED2 was added
gene: SPRED2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SPRED2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPRED2 were set to 34626534; 36394128
Phenotypes for gene: SPRED2 were set to Noonan syndrome 14, OMIM:619745
Fetal anomalies v4.34 SPINT2 Achchuthan Shanmugasundram gene: SPINT2 was added
gene: SPINT2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SPINT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPINT2 were set to 19185281; 24142340; 30445423; 20009592; 33374714; 33029133; 33547739
Phenotypes for gene: SPINT2 were set to congenital secretory sodium diarrhea 3, MONDO:0010036; Diarrhea 3, secretory sodium, congenital, syndromic, OMIM:270420
Fetal anomalies v4.34 SPEN Achchuthan Shanmugasundram gene: SPEN was added
gene: SPEN was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SPEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SPEN were set to 33596411
Phenotypes for gene: SPEN were set to Radio-Tartaglia syndrome, OMIM:619312
Fetal anomalies v4.34 SOX11 Achchuthan Shanmugasundram Source NHS GMS was added to SOX11.
Mode of inheritance for gene SOX11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder with microcephaly and with or without ocular malformations or hypogonadotropic hypogonadism, OMIM:615866 for gene: SOX11
Publications for gene: SOX11 were updated from to 33785884; 24886874; 31530938; 33086258; 33430815
Fetal anomalies v4.34 SMARCD1 Achchuthan Shanmugasundram gene: SMARCD1 was added
gene: SMARCD1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SMARCD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMARCD1 were set to 30879640
Phenotypes for gene: SMARCD1 were set to Coffin-Siris syndrome 11, OMIM:618779
Fetal anomalies v4.34 SMAD6 Achchuthan Shanmugasundram gene: SMAD6 was added
gene: SMAD6 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD6 were set to 22275001; 31138930; 32499606; 27606499
Phenotypes for gene: SMAD6 were set to {Craniosynostosis 7, susceptibility to}, OMIM:617439; Aortic valve disease 2, OMIM:614823; {Radioulnar synostosis, nonsyndromic}, OMIM:179300
Fetal anomalies v4.34 SMAD2 Achchuthan Shanmugasundram gene: SMAD2 was added
gene: SMAD2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SMAD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SMAD2 were set to 30157302; 29967133; 23665959
Phenotypes for gene: SMAD2 were set to Loeys-Dietz syndrome 6, OMIM:619656; Congenital heart defects, multiple types, 8, with or without heterotaxy, OMIM:619657
Fetal anomalies v4.34 SLC4A1 Achchuthan Shanmugasundram Source Expert Review Amber was added to SLC4A1.
Source NHS GMS was added to SLC4A1.
Added phenotypes Ovalocytosis, SA type, OMIM:166900 for gene: SLC4A1
Publications for gene: SLC4A1 were updated from to 33082562; 24652967
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 SLC25A26 Achchuthan Shanmugasundram Source Expert Review Amber was added to SLC25A26.
Source NHS GMS was added to SLC25A26.
Added phenotypes Combined oxidative phosphorylation deficiency 28, OMIM:616794 for gene: SLC25A26
Publications for gene: SLC25A26 were updated from to 26522469; 33082562
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 SLC22A5 Achchuthan Shanmugasundram Source Expert Review Amber was added to SLC22A5.
Source NHS GMS was added to SLC22A5.
Publications for gene: SLC22A5 were updated from 10545605; 11261427 to 33082562; 10545605; 11261427
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 SKIV2L Achchuthan Shanmugasundram Source Expert Review Amber was added to SKIV2L.
Source NHS GMS was added to SKIV2L.
Added phenotypes Trichohepatoenteric syndrome 2, OMIM:614602 for gene: SKIV2L
Publications for gene: SKIV2L were updated from to 22444670; 27431780
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 SIN3A Achchuthan Shanmugasundram Source NHS GMS was added to SIN3A.
Mode of inheritance for gene SIN3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Witteveen-Kolk syndrome, OMIM:613406 for gene: SIN3A
Publications for gene: SIN3A were updated from to 27399968
Fetal anomalies v4.34 SHMT2 Achchuthan Shanmugasundram gene: SHMT2 was added
gene: SHMT2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SHMT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SHMT2 were set to 33015733
Phenotypes for gene: SHMT2 were set to Polymicrogyria; corpus callosum anomalies; Microcephaly; Neurodevelopmental disorder with cardiomyopathy, spasticity, and brain abnormalities, OMIM:619121
Fetal anomalies v4.34 SF3B2 Achchuthan Shanmugasundram gene: SF3B2 was added
gene: SF3B2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SF3B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SF3B2 were set to 34344887; 37555391
Phenotypes for gene: SF3B2 were set to Craniofacial microsomia, OMIM:164210
Fetal anomalies v4.34 SERPINA11 Achchuthan Shanmugasundram Source NHS GMS was added to SERPINA11.
Source Expert Review Red was added to SERPINA11.
Added phenotypes SERPINA11-prenatal lethal disorder for gene: SERPINA11
Publications for gene: SERPINA11 were updated from 28749478; 31742715 to 33082562; 31742715; 28749478
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 SEMA3A Achchuthan Shanmugasundram gene: SEMA3A was added
gene: SEMA3A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SEMA3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SEMA3A were set to 20301509; 22927827; 24124006; 33369061; 21059704; 28075028
Phenotypes for gene: SEMA3A were set to skeletal anomalies; {Hypogonadotropic hypogonadism 16 with or without anosmia, OMIM:614897; congenital heart disease
Fetal anomalies v4.34 SCNN1G Achchuthan Shanmugasundram gene: SCNN1G was added
gene: SCNN1G was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SCNN1G was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCNN1G were set to 31522814; 11231969; 8640238; 7633160
Phenotypes for gene: SCNN1G were set to Pseudohypoaldosteronism, type IB3, autosomal recessive, OMIM:620126
Fetal anomalies v4.34 SCNN1B Achchuthan Shanmugasundram gene: SCNN1B was added
gene: SCNN1B was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SCNN1B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCNN1B were set to 8589714
Phenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I, OMIM:264350
Fetal anomalies v4.34 SCNN1A Achchuthan Shanmugasundram gene: SCNN1A was added
gene: SCNN1A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SCNN1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SCNN1A were set to 8589714; 31301676
Phenotypes for gene: SCNN1A were set to Pseudohypoaldosteronism, type I, OMIM:264350
Fetal anomalies v4.34 SCN5A Achchuthan Shanmugasundram gene: SCN5A was added
gene: SCN5A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN5A were set to 19419784; 22064211; 15184283
Phenotypes for gene: SCN5A were set to {Sudden infant death syndrome, susceptibility to}, OMIM:272120; Long QT syndrome 3, OMIM:603830
Fetal anomalies v4.34 SCN3A Achchuthan Shanmugasundram Source NHS GMS was added to SCN3A.
Mode of inheritance for gene SCN3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Epileptic encephalopathy, early infantile, 62, OMIM:617938; Epilepsy, familial focal, with variable foci 4, OMIM:617935; Intellectual disability; Malformations of cortical development for gene: SCN3A
Publications for gene: SCN3A were updated from to 29740860; 32515017; 30146301
Fetal anomalies v4.34 SCAF4 Achchuthan Shanmugasundram gene: SCAF4 was added
gene: SCAF4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: SCAF4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCAF4 were set to 32730804
Phenotypes for gene: SCAF4 were set to Fliedner-Zweier syndrome, OMIM:620511
Fetal anomalies v4.34 RPL15 Achchuthan Shanmugasundram gene: RPL15 was added
gene: RPL15 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RPL15 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RPL15 were set to 23812780; 20301769; 29599205
Phenotypes for gene: RPL15 were set to Diamond-Blackfan anemia 12, OMIM:615550; multiple congenital malformations; hydrops
Fetal anomalies v4.34 RNU12 Achchuthan Shanmugasundram gene: RNU12 was added
gene: RNU12 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RNU12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RNU12 were set to 34085356
Phenotypes for gene: RNU12 were set to Craniosynostosis, Delayed closure of the fontanelles, cranial defects, clavicular hypoplasia, Anal and Genitourinary malformations, and Skin manifestations; CDAGS syndrome, OMIM:603116
Fetal anomalies v4.34 RNF125 Achchuthan Shanmugasundram gene: RNF125 was added
gene: RNF125 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RNF125 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RNF125 were set to 25196541
Phenotypes for gene: RNF125 were set to Tenorio syndrome, OMIM:616260
Fetal anomalies v4.34 RNF113A Achchuthan Shanmugasundram gene: RNF113A was added
gene: RNF113A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RNF113A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: RNF113A were set to 25612912; 31793730; 31880405
Phenotypes for gene: RNF113A were set to Trichothiodystrophy 5, nonphotosensitive, OMIM:300953
Fetal anomalies v4.34 RLIM Achchuthan Shanmugasundram Source NHS GMS was added to RLIM.
Mode of inheritance for gene RLIM 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)
Added phenotypes Tonne-Kalscheuer syndrome, OMIM:300978 for gene: RLIM
Publications for gene: RLIM were updated from to 29728705; 25735484; 25644381
Fetal anomalies v4.34 RHOA Achchuthan Shanmugasundram gene: RHOA was added
gene: RHOA was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RHOA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: RHOA were set to Ectodermal dysplasia with facial dysmorphism and acral, ocular, and brain anomalies, somatic mosaic, OMIM:618727
Fetal anomalies v4.34 RHEB Achchuthan Shanmugasundram gene: RHEB was added
gene: RHEB was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: RHEB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RHEB were set to 29051493; 31337748
Phenotypes for gene: RHEB were set to Macrocephaly; Intellectual disability; Focal cortical dysplasia
Fetal anomalies v4.34 RBP4 Achchuthan Shanmugasundram gene: RBP4 was added
gene: RBP4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RBP4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RBP4 were set to 29178648; 25910211
Phenotypes for gene: RBP4 were set to Microphthalmia, isolated, with coloboma 10, OMIM:616428
Fetal anomalies v4.34 RAP1B Achchuthan Shanmugasundram gene: RAP1B was added
gene: RAP1B was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: RAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAP1B were set to 26280580; 32627184
Phenotypes for gene: RAP1B were set to Thrombocytopenia 11 with multiple congenital anomalies and dysmorphic facies, OMIM:620654
Fetal anomalies v4.34 RAD51 Achchuthan Shanmugasundram Source NHS GMS was added to RAD51.
Mode of inheritance for gene RAD51 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Fanconi anaemia, complementation group R, MIM# 617244 for gene: RAD51
Publications for gene: RAD51 were updated from to 30907510; 26253028; 26681308
Fetal anomalies v4.34 RAD50 Achchuthan Shanmugasundram gene: RAD50 was added
gene: RAD50 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: RAD50 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RAD50 were set to 33378670; 32212377; 19409520
Phenotypes for gene: RAD50 were set to MONDO:0013118; Nijmegen breakage syndrome-like disorder, OMIM:613078
Fetal anomalies v4.34 RAB11B Achchuthan Shanmugasundram Source NHS GMS was added to RAB11B.
Mode of inheritance for gene RAB11B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Neurodevelopmental disorder with ataxic gait, absent speech, and decreased cortical white matter, OMIM:617807 for gene: RAB11B
Publications for gene: RAB11B were updated from to 29106825
Fetal anomalies v4.34 PTPN23 Achchuthan Shanmugasundram gene: PTPN23 was added
gene: PTPN23 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PTPN23 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTPN23 were set to 29899372; 29090338; 25558065; 31395947; 27848944
Phenotypes for gene: PTPN23 were set to Neurodevelopmental disorder and structural brain anomalies with or without seizures and spasticity, OMIM:618890
Fetal anomalies v4.34 PRR12 Achchuthan Shanmugasundram gene: PRR12 was added
gene: PRR12 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PRR12 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRR12 were set to 29556724; 33314030
Phenotypes for gene: PRR12 were set to Neuroocular syndrome, OMIM:619539; Complex microphthalmia
Fetal anomalies v4.34 PRF1 Achchuthan Shanmugasundram gene: PRF1 was added
gene: PRF1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRF1 were set to 19595804; 26199792; 30070073
Phenotypes for gene: PRF1 were set to Aplastic anaemia, OMIM:609135; Haemophagocytic lymphohistiocytosis, familial, 2, OMIM:603553
Fetal anomalies v4.34 PPP3CA Achchuthan Shanmugasundram Source NHS GMS was added to PPP3CA.
Mode of inheritance for gene PPP3CA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Arthrogryposis, cleft palate, craniosynostosis, and impaired intellectual development, OMIM:618265 for gene: PPP3CA
Publications for gene: PPP3CA were updated from to 28942967; 33082562; 29432562
Fetal anomalies v4.34 PPP2R3C Achchuthan Shanmugasundram gene: PPP2R3C was added
gene: PPP2R3C was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PPP2R3C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP2R3C were set to 30893644; 34714774; 34750818
Phenotypes for gene: PPP2R3C were set to Gonadal dysgenesis, dysmorphic facies, retinal dystrophy, and myopathy, OMIM:618419
Fetal anomalies v4.34 PPP2CA Achchuthan Shanmugasundram gene: PPP2CA was added
gene: PPP2CA was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PPP2CA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP2CA were set to 30595372
Phenotypes for gene: PPP2CA were set to Neurodevelopmental disorder and language delay with or without structural brain abnormalities, OMIM:618354
Fetal anomalies v4.34 PPP1R13L Achchuthan Shanmugasundram gene: PPP1R13L was added
gene: PPP1R13L was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: PPP1R13L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPP1R13L were set to 32666529; 28864777
Phenotypes for gene: PPP1R13L were set to Arrhythmogenic cardiomyopathy with variable ectodermal abnormalities, OMIM:620519
Fetal anomalies v4.34 PPP1R12A Achchuthan Shanmugasundram gene: PPP1R12A was added
gene: PPP1R12A was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: PPP1R12A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PPP1R12A were set to 31883643
Phenotypes for gene: PPP1R12A were set to holoprosencephaly; disorder of sex development; Intellectual disability
Fetal anomalies v4.34 PPIL1 Achchuthan Shanmugasundram gene: PPIL1 was added
gene: PPIL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PPIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PPIL1 were set to 33220177
Phenotypes for gene: PPIL1 were set to Pontocerebellar hypoplasia, type 14, OMIM:619301
Fetal anomalies v4.34 POLD1 Achchuthan Shanmugasundram Source Expert Review Amber was added to POLD1.
Source NHS GMS was added to POLD1.
Mode of inheritance for gene POLD1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Mandibular hypoplasia, deafness, progeroid features, and lipodystrophy syndrome, OMIM:615381 for gene: POLD1
Publications for gene: POLD1 were updated from to 23770608
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 PLEC Achchuthan Shanmugasundram gene: PLEC was added
gene: PLEC was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PLEC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: PLEC were set to 28824526; 31509265; 22144912; 21263134; 21109228; 20624679
Phenotypes for gene: PLEC were set to Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723; Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950; Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138; Epidermolysis bullosa simplex with muscular dystrophy, OMIM:226670
Fetal anomalies v4.34 PKP2 Achchuthan Shanmugasundram gene: PKP2 was added
gene: PKP2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PKP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PKP2 were set to 33082562
Phenotypes for gene: PKP2 were set to Severe cardiomyopathy with left ventricular noncompaction
Fetal anomalies v4.34 PIGH Achchuthan Shanmugasundram gene: PIGH was added
gene: PIGH was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PIGH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIGH were set to 29603516; 29573052; 33156547; 35445667
Phenotypes for gene: PIGH were set to Glycosylphosphatidylinositol biosynthesis defect 17, OMIM:618010
Fetal anomalies v4.34 PIDD1 Achchuthan Shanmugasundram gene: PIDD1 was added
gene: PIDD1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PIDD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIDD1 were set to 33414379; 28397838; 34163010; 29302074
Phenotypes for gene: PIDD1 were set to Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, OMIM:619827
Fetal anomalies v4.34 PI4KA Achchuthan Shanmugasundram gene: PI4KA was added
gene: PI4KA was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PI4KA were set to 34415310
Phenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis MONDO:0014679; Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, OMIM:616531
Fetal anomalies v4.34 PHF21A Achchuthan Shanmugasundram Source NHS GMS was added to PHF21A.
Mode of inheritance for gene PHF21A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder with behavioral abnormalities and craniofacial dysmorphism with or without seizures, OMIM:618725 for gene: PHF21A
Publications for gene: PHF21A were updated from to 31649809; 30487643; 22770980
Fetal anomalies v4.34 PHEX Achchuthan Shanmugasundram gene: PHEX was added
gene: PHEX was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PHEX 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: PHEX were set to 9106524; 16055933; 19219621; 29791829
Phenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant, OMIM:307800
Fetal anomalies v4.34 PDE6D Achchuthan Shanmugasundram gene: PDE6D was added
gene: PDE6D was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PDE6D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE6D were set to 30423442; 24166846
Phenotypes for gene: PDE6D were set to Joubert syndrome 22, OMIM:615665
Fetal anomalies v4.34 PDE3A Achchuthan Shanmugasundram gene: PDE3A was added
gene: PDE3A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PDE3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PDE3A were set to 25961942
Phenotypes for gene: PDE3A were set to Hypertension and brachydactyly syndrome, OMIM:112410
Fetal anomalies v4.34 PCDH12 Achchuthan Shanmugasundram gene: PCDH12 was added
gene: PCDH12 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDH12 were set to 30178464; 27164683
Phenotypes for gene: PCDH12 were set to Diencephalic-mesencephalic junction dysplasia syndrome 1, OMIM:251280
Fetal anomalies v4.34 PAX1 Achchuthan Shanmugasundram gene: PAX1 was added
gene: PAX1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PAX1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAX1 were set to 23851939; 29681087; 32111619
Phenotypes for gene: PAX1 were set to Otofaciocervical syndrome 2, OMIM:615560
Fetal anomalies v4.34 PARP6 Achchuthan Shanmugasundram gene: PARP6 was added
gene: PARP6 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PARP6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PARP6 were set to 34067418
Phenotypes for gene: PARP6 were set to Microcephaly; Intellectual disability; Epilepsy
Fetal anomalies v4.34 PAM16 Achchuthan Shanmugasundram gene: PAM16 was added
gene: PAM16 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PAM16 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PAM16 were set to 27354339; 24786642
Phenotypes for gene: PAM16 were set to Spondylometaphyseal dysplasia, Megarbane-Dagher-Melike type, OMIM:613320
Fetal anomalies v4.34 PACS2 Achchuthan Shanmugasundram gene: PACS2 was added
gene: PACS2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: PACS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PACS2 were set to 29656858; 34894068; 34859793
Phenotypes for gene: PACS2 were set to Developmental and epileptic encephalopathy 66, OMIM:618067
Fetal anomalies v4.34 PACS1 Achchuthan Shanmugasundram Source NHS GMS was added to PACS1.
Mode of inheritance for gene PACS1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Schuurs-Hoeijmakers syndrome, OMIM:615009 for gene: PACS1
Publications for gene: PACS1 were updated from 30712880 to 30712880; 32672908; 23159249; 26842493
Fetal anomalies v4.34 ORAI1 Achchuthan Shanmugasundram gene: ORAI1 was added
gene: ORAI1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ORAI1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ORAI1 were set to 31448844
Phenotypes for gene: ORAI1 were set to Myopathy, tubular aggregate, 2, OMIM:615883
Fetal anomalies v4.34 NUP188 Achchuthan Shanmugasundram gene: NUP188 was added
gene: NUP188 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NUP188 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NUP188 were set to 28726809; 32021605; 32275884
Phenotypes for gene: NUP188 were set to microcephaly; ID; Sandestig-Stefanova syndrome, OMIM:618804; structural brain abnormalities; cataract
Fetal anomalies v4.34 NSRP1 Achchuthan Shanmugasundram gene: NSRP1 was added
gene: NSRP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NSRP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSRP1 were set to 34385670
Phenotypes for gene: NSRP1 were set to Neurodevelopmental disorder with spasticity, seizures, and brain abnormalities, OMIM:620001
Fetal anomalies v4.34 NSD2 Achchuthan Shanmugasundram gene: NSD2 was added
gene: NSD2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NSD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NSD2 were set to 31171569; 30345613
Phenotypes for gene: NSD2 were set to Rauch-Steindl syndrome, OMIM:619695
Fetal anomalies v4.34 NPRL3 Achchuthan Shanmugasundram gene: NPRL3 was added
gene: NPRL3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NPRL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NPRL3 were set to 27173016; 33461085; 35136953; 26285051
Phenotypes for gene: NPRL3 were set to Epilepsy, familial focal, with variable foci 3, OMIM:617118
Fetal anomalies v4.34 NPRL2 Achchuthan Shanmugasundram gene: NPRL2 was added
gene: NPRL2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NPRL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NPRL2 were set to 29281825; 31625153; 22268191; 27173016; 33461085
Phenotypes for gene: NPRL2 were set to Epilepsy, familial focal, with variable foci 2, OMIM:617116
Fetal anomalies v4.34 NPL Achchuthan Shanmugasundram gene: NPL was added
gene: NPL was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NPL was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPL were set to 33082562
Phenotypes for gene: NPL were set to Sialic aciduria
Fetal anomalies v4.34 NOVA2 Achchuthan Shanmugasundram Source NHS GMS was added to NOVA2.
Mode of inheritance for gene NOVA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM:618859 for gene: NOVA2
Publications for gene: NOVA2 were updated from to 32197073
Fetal anomalies v4.34 NONO Achchuthan Shanmugasundram Source NHS GMS was added to NONO.
Mode of inheritance for gene NONO 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)
Added phenotypes Intellectual developmental disorder, X-linked syndromic 34, OMIM:300967 for gene: NONO
Publications for gene: NONO were updated from 31680349; 32397791 to 27329731; 32397791; 26571461; 31680349; 27550220
Fetal anomalies v4.34 NLRP3 Achchuthan Shanmugasundram gene: NLRP3 was added
gene: NLRP3 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NLRP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NLRP3 were set to 12928894; 12483741; 12032915
Phenotypes for gene: NLRP3 were set to CINCA syndrome, OMIM:607115
Fetal anomalies v4.34 NKX2-6 Achchuthan Shanmugasundram gene: NKX2-6 was added
gene: NKX2-6 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: NKX2-6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX2-6 were set to 32198970; 15649947; 24421281; 25319568; 25380965
Phenotypes for gene: NKX2-6 were set to Persistent truncus arteriosus, OMIM:217095; Conotruncal heart malformations, OMIM:217095
Fetal anomalies v4.34 NID1 Achchuthan Shanmugasundram gene: NID1 was added
gene: NID1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NID1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NID1 were set to 30773799; 12480912; 25558065; 23674478
Phenotypes for gene: NID1 were set to Hydrocephalus with or without seizures; Dandy-Walker malformation and occipital cephalocele
Fetal anomalies v4.34 NFIB Achchuthan Shanmugasundram gene: NFIB was added
gene: NFIB was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NFIB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFIB were set to 30388402; 32902921; 33130023
Phenotypes for gene: NFIB were set to Macrocephaly, acquired, with impaired intellectual development, OMIM:618286
Fetal anomalies v4.34 NFIA Achchuthan Shanmugasundram gene: NFIA was added
gene: NFIA was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NFIA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NFIA were set to 32926563; 35018717; 36553517; 33973697
Phenotypes for gene: NFIA were set to Brain malformations with or without urinary tract defects, OMIM:613735
Fetal anomalies v4.34 NEXN Achchuthan Shanmugasundram Source NHS GMS was added to NEXN.
Mode of inheritance for gene NEXN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: NEXN were updated from 32058062; 33027564 to 33947203; 32058062; 35166435; 33027564; 33949776
Fetal anomalies v4.34 NCAPD2 Achchuthan Shanmugasundram gene: NCAPD2 was added
gene: NCAPD2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: NCAPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NCAPD2 were set to 27737959; 28097321; 31056748
Phenotypes for gene: NCAPD2 were set to Microcephaly 21, primary, autosomal recessive, OMIM:617983
Fetal anomalies v4.34 NAA15 Achchuthan Shanmugasundram Source NHS GMS was added to NAA15.
Mode of inheritance for gene NAA15 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder, autosomal dominant 50, with behavioral abnormalities, OMIM:617787 for gene: NAA15
Publications for gene: NAA15 were updated from to 31127942; 33557580
Fetal anomalies v4.34 MYSM1 Achchuthan Shanmugasundram gene: MYSM1 was added
gene: MYSM1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MYSM1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MYSM1 were set to 33082562
Phenotypes for gene: MYSM1 were set to Bone marrow failure syndrome 4, OMIM:618116
Fetal anomalies v4.34 MYBPC3 Achchuthan Shanmugasundram Source NHS GMS was added to MYBPC3.
Mode of inheritance for gene MYBPC3 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cardiomyopathy, hypertrophic, 4, OMIM:115197 for gene: MYBPC3
Publications for gene: MYBPC3 were updated from 19858127; 28749478 to 19858127; 16679492; 28749478; 17937428
Fetal anomalies v4.34 MVK Achchuthan Shanmugasundram gene: MVK was added
gene: MVK was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MVK were set to 27012807; 16722536
Phenotypes for gene: MVK were set to Hyper-IgD syndrome, OMIM:260920; Mevalonic aciduria, OMIM:610377
Fetal anomalies v4.34 MTX2 Achchuthan Shanmugasundram gene: MTX2 was added
gene: MTX2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: MTX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MTX2 were set to 32917887
Phenotypes for gene: MTX2 were set to Mandibuloacral dysplasia progeroid syndrome, OMIM:619127
Fetal anomalies v4.34 MT-TL1 Achchuthan Shanmugasundram gene: MT-TL1 was added
gene: MT-TL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene gene: MT-TL1 was set to MITOCHONDRIAL
Publications for gene: MT-TL1 were set to 33082562
Phenotypes for gene: MT-TL1 were set to Mitochondrial tRNA deficiency
Fetal anomalies v4.34 MT-TE Achchuthan Shanmugasundram gene: MT-TE was added
gene: MT-TE was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene gene: MT-TE was set to MITOCHONDRIAL
Publications for gene: MT-TE were set to 33082562; 17161635
Phenotypes for gene: MT-TE were set to Mitochondrial tRNA deficiency
Fetal anomalies v4.34 MPZ Achchuthan Shanmugasundram Source Expert Review Amber was added to MPZ.
Source NHS GMS was added to MPZ.
Mode of inheritance for gene MPZ was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Hypomyelinating neuropathy, congenital, 2, OMIM:618184 for gene: MPZ
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 MPDZ Achchuthan Shanmugasundram gene: MPDZ was added
gene: MPDZ was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MPDZ were set to 29499638; 30518636; 23240096; 28556411
Phenotypes for gene: MPDZ were set to Hydrocephalus, congenital, 2, with or without brain or eye anomalies, OMIM:615219
Fetal anomalies v4.34 MNS1 Achchuthan Shanmugasundram gene: MNS1 was added
gene: MNS1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MNS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MNS1 were set to 30148830; 31534215
Phenotypes for gene: MNS1 were set to Heterotaxy, visceral, 9, autosomal, with male infertility, OMIM:618948
Fetal anomalies v4.34 MINPP1 Achchuthan Shanmugasundram gene: MINPP1 was added
gene: MINPP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MINPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MINPP1 were set to 33168985; 33257696
Phenotypes for gene: MINPP1 were set to Pontocerebellar hypoplasia, type 16, OMIM:619527
Fetal anomalies v4.34 MGAT2 Achchuthan Shanmugasundram Source Expert Review Amber was added to MGAT2.
Source NHS GMS was added to MGAT2.
Added phenotypes Congenital disorder of glycosylation, type Iia, OMIM:212066 for gene: MGAT2
Publications for gene: MGAT2 were updated from to 33082562
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 MED27 Achchuthan Shanmugasundram gene: MED27 was added
gene: MED27 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MED27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED27 were set to 33443317
Phenotypes for gene: MED27 were set to Neurodevelopmental disorder with spasticity, cataracts, and cerebellar hypoplasia - MIM#619286
Fetal anomalies v4.34 MED25 Achchuthan Shanmugasundram gene: MED25 was added
gene: MED25 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MED25 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MED25 were set to 32324310; 25792360; 32816121
Phenotypes for gene: MED25 were set to Congenital cataract-microcephaly-naevus flammeus syndrome MONDO:0014643; hypospadias, thin corpus callosum, cerebral ventricular dilatation; multiple congenital anomalies; congenital heart defects; Basel-Vanagait-Smirin-Yosef syndrome, OMIM:616449
Fetal anomalies v4.34 MCIDAS Achchuthan Shanmugasundram gene: MCIDAS was added
gene: MCIDAS was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MCIDAS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MCIDAS were set to 25048963; 32802948; 30237576
Phenotypes for gene: MCIDAS were set to Hydrocephalus; Ciliary dyskinesia, primary, 42, OMIM:618695; Choroid plexus hyperplasia; Arachnoid cyst
Fetal anomalies v4.34 MBTPS1 Achchuthan Shanmugasundram gene: MBTPS1 was added
gene: MBTPS1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MBTPS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MBTPS1 were set to 32857899; 32420688; 30046013
Phenotypes for gene: MBTPS1 were set to ?Spondyloepiphyseal dysplasia, Kondo-Fu type, OMIM:618392
Fetal anomalies v4.34 MAST1 Achchuthan Shanmugasundram gene: MAST1 was added
gene: MAST1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAST1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAST1 were set to 32818970; 32198973; 31721002; 30449657
Phenotypes for gene: MAST1 were set to cerebellar hypoplasia; corpus callosum anomalies; cortical malformations; Mega-corpus-callosum syndrome with cerebellar hypoplasia and cortical malformations, OMIM:61827
Fetal anomalies v4.34 MAPKAPK5 Achchuthan Shanmugasundram gene: MAPKAPK5 was added
gene: MAPKAPK5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAPKAPK5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAPKAPK5 were set to 35575217; 33442026
Phenotypes for gene: MAPKAPK5 were set to Neurocardiofaciodigital syndrome, OMIM:619869
Fetal anomalies v4.34 MAPK8IP3 Achchuthan Shanmugasundram gene: MAPK8IP3 was added
gene: MAPK8IP3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPK8IP3 were set to 30945334; 30612693
Phenotypes for gene: MAPK8IP3 were set to cerebral atrophy; Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443; corpus callosum anomalies; polymicrogyria
Fetal anomalies v4.34 MAPK1 Achchuthan Shanmugasundram gene: MAPK1 was added
gene: MAPK1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAPK1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAPK1 were set to 32721402
Phenotypes for gene: MAPK1 were set to Noonan syndrome 13, OMIM:619087
Fetal anomalies v4.34 MAP1B Achchuthan Shanmugasundram gene: MAP1B was added
gene: MAP1B was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAP1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: MAP1B were set to 33772511; 30150678; 31317654; 30214071
Phenotypes for gene: MAP1B were set to Polymicrogyria; Periventricular nodular heterotopia 9, OMIM:618918
Fetal anomalies v4.34 MAN2C1 Achchuthan Shanmugasundram gene: MAN2C1 was added
gene: MAN2C1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAN2C1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAN2C1 were set to 35045343
Phenotypes for gene: MAN2C1 were set to Congenital disorder of deglycosylation 2, MIM# 619775
Fetal anomalies v4.34 MAB21L1 Achchuthan Shanmugasundram gene: MAB21L1 was added
gene: MAB21L1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: MAB21L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAB21L1 were set to 30487245
Phenotypes for gene: MAB21L1 were set to Cerebellar, ocular, craniofacial, and genital syndrome OMIM:618479
Fetal anomalies v4.34 LTBP1 Achchuthan Shanmugasundram gene: LTBP1 was added
gene: LTBP1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: LTBP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LTBP1 were set to 33991472
Phenotypes for gene: LTBP1 were set to Cutis laxa, autosomal recessive, type IIE, OMIM:619451
Fetal anomalies v4.34 LAGE3 Achchuthan Shanmugasundram gene: LAGE3 was added
gene: LAGE3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: LAGE3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: LAGE3 were set to 31069511; 28805828
Phenotypes for gene: LAGE3 were set to Galloway-Mowat syndrome 2, X-linked, OMIM:301006
Fetal anomalies v4.34 KIF4A Achchuthan Shanmugasundram gene: KIF4A was added
gene: KIF4A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: KIF4A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: KIF4A were set to 34346154; 30679815; 24812067
Phenotypes for gene: KIF4A were set to Hydrocephalus; Intellectual developmental disorder, X-linked 100, OMIM:300923
Fetal anomalies v4.34 KIF21B Achchuthan Shanmugasundram gene: KIF21B was added
gene: KIF21B was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: KIF21B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KIF21B were set to 32415109
Phenotypes for gene: KIF21B were set to Global developmental delay; Neurodevelopmental disorder, MONDO:0700092; Intellectual disability; Abnormality of brain morphology; Microcephaly
Fetal anomalies v4.34 KIAA0825 Achchuthan Shanmugasundram gene: KIAA0825 was added
gene: KIAA0825 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: KIAA0825 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0825 were set to 30982135; 32147526; 33776623
Phenotypes for gene: KIAA0825 were set to Polydactyly, postaxial, type A10, OMIM:618498
Fetal anomalies v4.34 KIAA0556 Achchuthan Shanmugasundram gene: KIAA0556 was added
gene: KIAA0556 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: KIAA0556 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0556 were set to 27245168; 26714646
Phenotypes for gene: KIAA0556 were set to Joubert syndrome 26, OMIM:616784
Fetal anomalies v4.34 KDM1A Achchuthan Shanmugasundram Source NHS GMS was added to KDM1A.
Mode of inheritance for gene KDM1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Cleft palate, psychomotor retardation, and distinctive facial features, OMIM:616728 for gene: KDM1A
Publications for gene: KDM1A were updated from to 27094131; 24838796; 26656649
Fetal anomalies v4.34 KCNQ1 Achchuthan Shanmugasundram Source NHS GMS was added to KCNQ1.
Mode of inheritance for gene KCNQ1 was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Long QT syndrome 1, OMIM:192500 for gene: KCNQ1
Publications for gene: KCNQ1 were updated from to 27539165
Fetal anomalies v4.34 KCNJ8 Achchuthan Shanmugasundram Source NHS GMS was added to KCNJ8.
Mode of inheritance for gene KCNJ8 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KCNJ8 were updated from 24176758; 24700710; 25275207 to 25275207; 24700710; 24176758
Fetal anomalies v4.34 KCNH1 Achchuthan Shanmugasundram Source NHS GMS was added to KCNH1.
Mode of inheritance for gene KCNH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Zimmermann-Laband syndrome 1, OMIM:135500 for gene: KCNH1
Publications for gene: KCNH1 were updated from to 33811134
Fetal anomalies v4.34 KAT5 Achchuthan Shanmugasundram gene: KAT5 was added
gene: KAT5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: KAT5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KAT5 were set to 32822602
Phenotypes for gene: KAT5 were set to Neurodevelopmental disorder wtih dysmorphic facies, sleep disturbance, and brain abnormalities, OMIM:619103
Fetal anomalies v4.34 IQCE Achchuthan Shanmugasundram gene: IQCE was added
gene: IQCE was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: IQCE was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IQCE were set to 28488682; 31549751
Phenotypes for gene: IQCE were set to Polydactyly, postaxial, type A7 OMIM:617642
Fetal anomalies v4.34 INTS1 Achchuthan Shanmugasundram gene: INTS1 was added
gene: INTS1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: INTS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTS1 were set to 28542170; 31428919; 30622326
Phenotypes for gene: INTS1 were set to Neurodevelopmental disorder with cataracts, poor growth, and dysmorphic facies, OMIM:61857
Fetal anomalies v4.34 IKZF1 Achchuthan Shanmugasundram gene: IKZF1 was added
gene: IKZF1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: IKZF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: IKZF1 were set to 33082562
Phenotypes for gene: IKZF1 were set to Immunodeficiency, common variable, 13, OMIM:616873
Fetal anomalies v4.34 IFT74 Achchuthan Shanmugasundram gene: IFT74 was added
gene: IFT74 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: IFT74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT74 were set to 32144365; 27486776; 33531668
Phenotypes for gene: IFT74 were set to Bardet-Biedl syndrome 22, OMIM:617119; Joubert syndrome 40, OMIM:619582
Fetal anomalies v4.34 IFT27 Achchuthan Shanmugasundram gene: IFT27 was added
gene: IFT27 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: IFT27 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IFT27 were set to 25443296; 24488770; 26763875; 30761183
Phenotypes for gene: IFT27 were set to Bardet-Biedl syndrome 19, OMIM:615996
Fetal anomalies v4.34 HYAL2 Achchuthan Shanmugasundram gene: HYAL2 was added
gene: HYAL2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HYAL2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYAL2 were set to 23172227; 28081210; 26515055; 34906488
Phenotypes for gene: HYAL2 were set to congenital cardiac malformations; Cleft lip and palate; cor triatriatum
Fetal anomalies v4.34 HSPA9 Achchuthan Shanmugasundram gene: HSPA9 was added
gene: HSPA9 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HSPA9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HSPA9 were set to 26598328; 26491070; 32869452
Phenotypes for gene: HSPA9 were set to Anemia, sideroblastic, 4, OMIM:182170; Even-plus syndrome, OMIM:616854
Fetal anomalies v4.34 HS2ST1 Achchuthan Shanmugasundram gene: HS2ST1 was added
gene: HS2ST1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HS2ST1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HS2ST1 were set to 33159882
Phenotypes for gene: HS2ST1 were set to arthrogryposis; Neurofacioskeletal syndrome with or without renal agenesis, OMIM:619194; multiple congenital anomalies
Fetal anomalies v4.34 HOXA2 Achchuthan Shanmugasundram gene: HOXA2 was added
gene: HOXA2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: HOXA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HOXA2 were set to 32649979; 27503514; 28109504; 18394579; 23775976; 31567444
Phenotypes for gene: HOXA2 were set to Microtia with or without hearing impairment (AD), OMIM:612290
Fetal anomalies v4.34 HMGB1 Achchuthan Shanmugasundram gene: HMGB1 was added
gene: HMGB1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: HMGB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: HMGB1 were set to 34164801
Phenotypes for gene: HMGB1 were set to Neurodevelopmental disorder MONDO:0700092, HMGB1-related; intellectual disability; microcephaly
Fetal anomalies v4.34 HK1 Achchuthan Shanmugasundram gene: HK1 was added
gene: HK1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HK1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Publications for gene: HK1 were set to 33082562
Phenotypes for gene: HK1 were set to Hemolytic anemia due to hexokinase deficiency, OMIM:235700; Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547
Fetal anomalies v4.34 HIST1H4C Achchuthan Shanmugasundram Source NHS GMS was added to HIST1H4C.
Mode of inheritance for gene HIST1H4C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Tessadori-van Haaften neurodevelopmental syndrome 1, OMIM:619758 for gene: HIST1H4C
Publications for gene: HIST1H4C were updated from to 28920961; 35202563
Fetal anomalies v4.34 HHAT Achchuthan Shanmugasundram gene: HHAT was added
gene: HHAT was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HHAT was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HHAT were set to 33749989; 30912300; 24784881
Phenotypes for gene: HHAT were set to Nivelon-Nivelon-Mabille syndrome, OMIM:600092
Fetal anomalies v4.34 HERC1 Achchuthan Shanmugasundram gene: HERC1 was added
gene: HERC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: HERC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HERC1 were set to 28323226; 26138117; 27108999; 26153217
Phenotypes for gene: HERC1 were set to Macrocephaly, dysmorphic facies, and psychomotor retardation, OMIM:617011
Fetal anomalies v4.34 H3F3A Achchuthan Shanmugasundram Source Expert Review Amber was added to H3F3A.
Source NHS GMS was added to H3F3A.
Mode of inheritance for gene H3F3A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Bryant-Li-Bhoj neurodevelopmental syndrome 1, OMIM:619720 for gene: H3F3A
Publications for gene: H3F3A were updated from to 33268356
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 GTPBP2 Achchuthan Shanmugasundram gene: GTPBP2 was added
gene: GTPBP2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GTPBP2 were set to 29449720; 30790272; 26675814
Phenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome, OMIM:617988
Fetal anomalies v4.34 GRM7 Achchuthan Shanmugasundram gene: GRM7 was added
gene: GRM7 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: GRM7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRM7 were set to 32286009; 32248644
Phenotypes for gene: GRM7 were set to Neurodevelopmental disorder with seizures, hypotonia, and brain abnormalities, OMIM:618922
Fetal anomalies v4.34 GLMN Achchuthan Shanmugasundram Source Expert Review Amber was added to GLMN.
Source NHS GMS was added to GLMN.
Mode of inheritance for gene GLMN was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Glomulovenous malformations, OMIM:138000 for gene: GLMN
Publications for gene: GLMN were updated from to 33082562; 23801931
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 GHR Achchuthan Shanmugasundram Source Expert Review Amber was added to GHR.
Source NHS GMS was added to GHR.
Added phenotypes Growth hormone insensitivity, partial, OMIM:604271; Laron dwarfism, OMIM:262500 for gene: GHR
Publications for gene: GHR were updated from to 9360502
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 GDF11 Achchuthan Shanmugasundram gene: GDF11 was added
gene: GDF11 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: GDF11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GDF11 were set to 31215115; 34113007
Phenotypes for gene: GDF11 were set to ?Vertebral hypersegmentation and orofacial anomalies, OMIM:619122
Fetal anomalies v4.34 GATA5 Achchuthan Shanmugasundram gene: GATA5 was added
gene: GATA5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: GATA5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GATA5 were set to 33082562
Phenotypes for gene: GATA5 were set to Congenital heart defects, multiple types, 5, OMIM:617912
Fetal anomalies v4.34 GABRB2 Achchuthan Shanmugasundram Source NHS GMS was added to GABRB2.
Mode of inheritance for gene GABRB2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Developmental and epileptic encephalopathy 92, OMIM:617829 for gene: GABRB2
Publications for gene: GABRB2 were updated from to 33325057; 27789573; 29100083
Fetal anomalies v4.34 G6PD Achchuthan Shanmugasundram gene: G6PD was added
gene: G6PD was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: G6PD 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: G6PD were set to 33082562
Phenotypes for gene: G6PD were set to Hemolytic anemia, G6PD deficient (favism), OMIM:300908
Fetal anomalies v4.34 FRMPD4 Achchuthan Shanmugasundram Source NHS GMS was added to FRMPD4.
Source Expert Review Red was added to FRMPD4.
Added phenotypes Intellectual Disability, X-linked 104, OMIM:300983 for gene: FRMPD4
Publications for gene: FRMPD4 were updated from to 25644381; 29267967
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 FRA10AC1 Achchuthan Shanmugasundram gene: FRA10AC1 was added
gene: FRA10AC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FRA10AC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRA10AC1 were set to 34694367
Phenotypes for gene: FRA10AC1 were set to Neurodevelopmental disorder with growth retardation, dysmorphic facies, and corpus callosum abnormalities, OMIM:620113
Fetal anomalies v4.34 FOXJ1 Achchuthan Shanmugasundram gene: FOXJ1 was added
gene: FOXJ1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXJ1 were set to 31630787
Phenotypes for gene: FOXJ1 were set to Ciliary dyskinesia, primary, 43, OMIM:618699
Fetal anomalies v4.34 FGF9 Achchuthan Shanmugasundram Source NHS GMS was added to FGF9.
Mode of inheritance for gene FGF9 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Multiple synostoses syndrome 3, OMIM:612961 for gene: FGF9
Publications for gene: FGF9 were updated from to 33174625; 19589401; 28730625; 33140402; 19219044
Fetal anomalies v4.34 FBXW11 Achchuthan Shanmugasundram gene: FBXW11 was added
gene: FBXW11 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FBXW11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBXW11 were set to 31402090
Phenotypes for gene: FBXW11 were set to Neurodevelopmental, jaw, eye, and digital syndrome, OMIM:618914
Fetal anomalies v4.34 FBRSL1 Achchuthan Shanmugasundram gene: FBRSL1 was added
gene: FBRSL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FBRSL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FBRSL1 were set to 32424618; 34805182
Phenotypes for gene: FBRSL1 were set to congenital heart defect; Congenital malformations
Fetal anomalies v4.34 FAT1 Achchuthan Shanmugasundram gene: FAT1 was added
gene: FAT1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAT1 were set to 34013115; 33418956; 34202629; 26905694; 32902815; 30862798
Phenotypes for gene: FAT1 were set to hand and foot anomalies; nephropathy; ocular anomalies; multiple congenital anomalies
Fetal anomalies v4.34 FAM149B1 Achchuthan Shanmugasundram gene: FAM149B1 was added
gene: FAM149B1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: FAM149B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FAM149B1 were set to 30905400
Phenotypes for gene: FAM149B1 were set to Joubert syndrome 36, OMIM:618763
Fetal anomalies v4.34 EXOSC9 Achchuthan Shanmugasundram gene: EXOSC9 was added
gene: EXOSC9 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EXOSC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC9 were set to 30690203; 33040083; 29727687
Phenotypes for gene: EXOSC9 were set to Pontocerebellar hypoplasia, type 1D, OMIM:618065
Fetal anomalies v4.34 EXOSC8 Achchuthan Shanmugasundram gene: EXOSC8 was added
gene: EXOSC8 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EXOSC8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC8 were set to 24989451; 34210538
Phenotypes for gene: EXOSC8 were set to Pontocerebellar hypoplasia, type 1C, OMIM:616081
Fetal anomalies v4.34 EXOSC5 Achchuthan Shanmugasundram gene: EXOSC5 was added
gene: EXOSC5 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EXOSC5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOSC5 were set to 32504085; 29302074
Phenotypes for gene: EXOSC5 were set to Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, OMIM:619576
Fetal anomalies v4.34 EXOC7 Achchuthan Shanmugasundram gene: EXOC7 was added
gene: EXOC7 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EXOC7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC7 were set to 32103185
Phenotypes for gene: EXOC7 were set to Neurodevelopmental disorder with seizures and brain atrophy, OMIM:619072
Fetal anomalies v4.34 ERGIC1 Achchuthan Shanmugasundram gene: ERGIC1 was added
gene: ERGIC1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ERGIC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERGIC1 were set to 31230720; 28317099; 34037256
Phenotypes for gene: ERGIC1 were set to Arthrogryposis multiplex congenita 2, neurogenic type, OMIM:208100
Fetal anomalies v4.34 ERBB3 Achchuthan Shanmugasundram gene: ERBB3 was added
gene: ERBB3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ERBB3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERBB3 were set to 17701904; 31752936; 33720042
Phenotypes for gene: ERBB3 were set to Lethal congenital contractural syndrome 2, OMIM:607598
Fetal anomalies v4.34 EMC1 Achchuthan Shanmugasundram Source NHS GMS was added to EMC1.
Mode of inheritance for gene EMC1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cerebellar atrophy, visual impairment, and psychomotor retardation, OMIM:616875 for gene: EMC1
Publications for gene: EMC1 were updated from to 29271071; 26942288
Fetal anomalies v4.34 EIF3F Achchuthan Shanmugasundram gene: EIF3F was added
gene: EIF3F was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EIF3F was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF3F were set to 33736665
Phenotypes for gene: EIF3F were set to Intellectual developmental disorder, autosomal recessive 67, OMIM:618295
Fetal anomalies v4.34 EFEMP2 Achchuthan Shanmugasundram gene: EFEMP2 was added
gene: EFEMP2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EFEMP2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EFEMP2 were set to 19664000; 23532871; 31548410; 30140196
Phenotypes for gene: EFEMP2 were set to Cutis laxa, autosomal recessive, type IB, OMIM:614437
Fetal anomalies v4.34 EEF2 Achchuthan Shanmugasundram gene: EEF2 was added
gene: EEF2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EEF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EEF2 were set to 33355653
Phenotypes for gene: EEF2 were set to hydrocephalus; Neurodevelopmental disorder; macrocephaly
Fetal anomalies v4.34 EDN3 Achchuthan Shanmugasundram gene: EDN3 was added
gene: EDN3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: EDN3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: EDN3 were set to 9359047; 27370713; 11303518; 10231870; 8630502; 30171849
Phenotypes for gene: EDN3 were set to Central hypoventilation syndrome, congenital, OMIM:209880; Waardenburg syndrome, type 4B, OMIM:613265; {Hirschsprung disease, susceptibility to, 4}, OMIM:613712
Fetal anomalies v4.34 DYNC1I2 Achchuthan Shanmugasundram gene: DYNC1I2 was added
gene: DYNC1I2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: DYNC1I2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC1I2 were set to 31079899
Phenotypes for gene: DYNC1I2 were set to Neurodevelopmental disorder with microcephaly and structural brain anomalies , MIM#618492
Fetal anomalies v4.34 DYNC1I1 Achchuthan Shanmugasundram gene: DYNC1I1 was added
gene: DYNC1I1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: DYNC1I1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DYNC1I1 were set to 32219838; 25231166; 22914741
Phenotypes for gene: DYNC1I1 were set to Split-hand/split-foot malformation (SHFM)
Fetal anomalies v4.34 DPF2 Achchuthan Shanmugasundram Source NHS GMS was added to DPF2.
Mode of inheritance for gene DPF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Coffin-Siris syndrome 7, OMIM:618027 for gene: DPF2
Publications for gene: DPF2 were updated from to 29429572; 31706665
Fetal anomalies v4.34 DLL1 Achchuthan Shanmugasundram gene: DLL1 was added
gene: DLL1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: DLL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DLL1 were set to 31353024
Phenotypes for gene: DLL1 were set to Neurodevelopmental disorder with nonspecific brain abnormalities and with or without seizures, OMIM:618709
Fetal anomalies v4.34 DICER1 Achchuthan Shanmugasundram gene: DICER1 was added
gene: DICER1 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DICER1 were set to 35114704; 29343557; 33208384; 31232238; 27960159; 24676357; 26227654
Phenotypes for gene: DICER1 were set to GLOW syndrome, somatic mosaic, OMIM:618272; Goiter, multinodular 1, with or without Sertoli-Leydig cell tumors , OMIM:138800; Pleuropulmonary blastoma, OMIM:601200
Fetal anomalies v4.34 DEAF1 Achchuthan Shanmugasundram Source NHS GMS was added to DEAF1.
Mode of inheritance for gene DEAF1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Vulto-van Silfout-de Vries syndrome, OMIM:615828; Neurodevelopmental disorder with hypotonia, impaired expressive language, and with or without seizures, OMIM:617171 for gene: DEAF1
Publications for gene: DEAF1 were updated from to 28940898; 30923367; 26048982; 24726472; 26834045
Fetal anomalies v4.34 DDX6 Achchuthan Shanmugasundram Source NHS GMS was added to DDX6.
Source Expert Review Red was added to DDX6.
Mode of inheritance for gene DDX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Intellectual developmental disorder with impaired language and dysmorphic facies, OMIM:618653 for gene: DDX6
Publications for gene: DDX6 were updated from to 31422817
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 D2HGDH Achchuthan Shanmugasundram gene: D2HGDH was added
gene: D2HGDH was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria, OMIM:600721
Fetal anomalies v4.34 CYBB Achchuthan Shanmugasundram gene: CYBB was added
gene: CYBB was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CYBB 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: CYBB were set to 16795136; 33082562
Phenotypes for gene: CYBB were set to Chronic granulomatous disease, X-linked, OMIM:306400
Fetal anomalies v4.34 CWF19L1 Achchuthan Shanmugasundram gene: CWF19L1 was added
gene: CWF19L1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CWF19L1 were set to 27016154
Phenotypes for gene: CWF19L1 were set to Spinocerebellar ataxia, autosomal recessive 17, OMIM:616127
Fetal anomalies v4.34 CTNNA2 Achchuthan Shanmugasundram gene: CTNNA2 was added
gene: CTNNA2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CTNNA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTNNA2 were set to 30013181
Phenotypes for gene: CTNNA2 were set to Cortical dysplasia, complex, with other brain malformations 9, OMIM:618174
Fetal anomalies v4.34 COLGALT1 Achchuthan Shanmugasundram gene: COLGALT1 was added
gene: COLGALT1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: COLGALT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COLGALT1 were set to 31759980; 30412317; 33709034
Phenotypes for gene: COLGALT1 were set to Brain small vessel disease 3, MIM# 618360
Fetal anomalies v4.34 COL9A3 Achchuthan Shanmugasundram Source NHS GMS was added to COL9A3.
Mode of inheritance for gene COL9A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Stickler syndrome, type VI, OMIM:620022 for gene: COL9A3
Publications for gene: COL9A3 were updated from to 15551337; 31090205; 25381065; 24273071; 33570243; 30450842
Fetal anomalies v4.34 COL27A1 Achchuthan Shanmugasundram gene: COL27A1 was added
gene: COL27A1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COL27A1 were set to 24986830; 28276056; 28322503
Phenotypes for gene: COL27A1 were set to Steel syndrome, OMIM:615155
Fetal anomalies v4.34 COL25A1 Achchuthan Shanmugasundram Source NHS GMS was added to COL25A1.
Source Expert Review Red was added to COL25A1.
Added phenotypes Arthrogryposis multiplex congenita, MONDO:0015168 for gene: COL25A1
Publications for gene: COL25A1 were updated from to 26437029; 35077597
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 COA7 Achchuthan Shanmugasundram gene: COA7 was added
gene: COA7 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: COA7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COA7 were set to 27683825; 29718187
Phenotypes for gene: COA7 were set to Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, OMIM:618387
Fetal anomalies v4.34 CLTC Achchuthan Shanmugasundram Source NHS GMS was added to CLTC.
Mode of inheritance for gene CLTC was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CLTC were updated from 33743358 to 33743358; 26822784; 31776469; 34230591; 29100083
Fetal anomalies v4.34 CLMP Achchuthan Shanmugasundram Source NHS GMS was added to CLMP.
Source Expert Review Red was added to CLMP.
Added phenotypes Congenital short bowel syndrome, OMIM:615237 for gene: CLMP
Publications for gene: CLMP were updated from to 22155368
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 CITED2 Achchuthan Shanmugasundram gene: CITED2 was added
gene: CITED2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CITED2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CITED2 were set to 16287139; 29536580; 33706167; 31515672; 11694877; 33439552
Phenotypes for gene: CITED2 were set to Atrial septal defect 8, OMIM:614433; Ventricular septal defect 2, OMIM:614431; Congenital heart disease
Fetal anomalies v4.34 CFAP52 Achchuthan Shanmugasundram gene: CFAP52 was added
gene: CFAP52 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CFAP52 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP52 were set to 33139725; 25469542
Phenotypes for gene: CFAP52 were set to Heterotaxy, visceral, 10, autosomal, with male infertility, OMIM:619607
Fetal anomalies v4.34 CFAP45 Achchuthan Shanmugasundram gene: CFAP45 was added
gene: CFAP45 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CFAP45 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP45 were set to 33139725
Phenotypes for gene: CFAP45 were set to Heterotaxy, visceral, 11, autosomal, with male infertility, OMIM:619608
Fetal anomalies v4.34 CEP85L Achchuthan Shanmugasundram gene: CEP85L was added
gene: CEP85L was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CEP85L were set to 32097630
Phenotypes for gene: CEP85L were set to Lissencephaly 10, posterior predominant, OMIM:618873
Fetal anomalies v4.34 CAPN15 Achchuthan Shanmugasundram gene: CAPN15 was added
gene: CAPN15 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CAPN15 were set to 32885237
Phenotypes for gene: CAPN15 were set to microphthalmia HP:0000568; coloboma HP:0000589; Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318
Fetal anomalies v4.34 CALCRL Achchuthan Shanmugasundram Source Expert Review Amber was added to CALCRL.
Source NHS GMS was added to CALCRL.
Publications for gene: CALCRL were updated from 30115739; 16537897 to 33082562; 30115739; 16537897
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 CACNA1A Achchuthan Shanmugasundram Source NHS GMS was added to CACNA1A.
Mode of inheritance for gene CACNA1A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Developmental and epileptic encephalopathy 42, OMIM:617106 for gene: CACNA1A
Publications for gene: CACNA1A were updated from to 27476654
Fetal anomalies v4.34 C2orf69 Achchuthan Shanmugasundram gene: C2orf69 was added
gene: C2orf69 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: C2orf69 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2orf69 were set to 33945503; 34038740
Phenotypes for gene: C2orf69 were set to Combined oxidative phosphorylation deficiency 53, OMIM:619423
Fetal anomalies v4.34 BRF1 Achchuthan Shanmugasundram gene: BRF1 was added
gene: BRF1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: BRF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BRF1 were set to 27748960; 25561519
Phenotypes for gene: BRF1 were set to Cerebellofaciodental syndrome, OMIM:616202
Fetal anomalies v4.34 BRD4 Achchuthan Shanmugasundram gene: BRD4 was added
gene: BRD4 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: BRD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: BRD4 were set to 34035299; 30302754; 29379197; 11997514
Phenotypes for gene: BRD4 were set to Cornelia de Lange syndrome 6, OMIM:620568
Fetal anomalies v4.34 BRCA1 Achchuthan Shanmugasundram Source Expert Review Amber was added to BRCA1.
Source NHS GMS was added to BRCA1.
Added phenotypes Fanconi anaemia, complementation group S, OMIM:617883 for gene: BRCA1
Publications for gene: BRCA1 were updated from to 29712865; 29133208; 34680915
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 BCAS3 Achchuthan Shanmugasundram gene: BCAS3 was added
gene: BCAS3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: BCAS3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCAS3 were set to 34022130
Phenotypes for gene: BCAS3 were set to Hengel-Maroofian-Schols syndrome, OMIM:619641
Fetal anomalies v4.34 AUTS2 Achchuthan Shanmugasundram Source NHS GMS was added to AUTS2.
Mode of inheritance for gene AUTS2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: AUTS2 were updated from to 23332918; 25205402; 31474318
Fetal anomalies v4.34 ATP6V1B2 Achchuthan Shanmugasundram Source NHS GMS was added to ATP6V1B2.
Source Expert Review Red was added to ATP6V1B2.
Mode of inheritance for gene ATP6V1B2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Deafness, congenital, with onychodystrophy, autosomal dominant, OMIM:124480; Zimmermann-Laband syndrome 2, OMIM:616455 for gene: ATP6V1B2
Publications for gene: ATP6V1B2 were updated from to 28396750; 24913193; 25915598
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 ATP1A3 Achchuthan Shanmugasundram Source Expert Review Amber was added to ATP1A3.
Source NHS GMS was added to ATP1A3.
Mode of inheritance for gene ATP1A3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Polymicrogyria; Developmental and epileptic encephalopathy 99, OMIM:619606 for gene: ATP1A3
Publications for gene: ATP1A3 were updated from to 33880529; 33762331
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v4.34 ATP11C Achchuthan Shanmugasundram gene: ATP11C was added
gene: ATP11C was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ATP11C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP11C were set to 33082562
Phenotypes for gene: ATP11C were set to ?Hemolytic anemia, congenital, X-linked, OMIM:301015
Fetal anomalies v4.34 ATN1 Achchuthan Shanmugasundram gene: ATN1 was added
gene: ATN1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATN1 were set to 30827498; 34212383
Phenotypes for gene: ATN1 were set to Congenital hypotonia, epilepsy, developmental delay, and digital anomalies, OMIM:618494
Fetal anomalies v4.34 ATAD1 Achchuthan Shanmugasundram gene: ATAD1 was added
gene: ATAD1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ATAD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATAD1 were set to 29390050; 29659736; 28180185
Phenotypes for gene: ATAD1 were set to Hyperekplexia 4, OMIM:618011
Fetal anomalies v4.34 ASXL2 Achchuthan Shanmugasundram Source NHS GMS was added to ASXL2.
Mode of inheritance for gene ASXL2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Shashi-Pena syndrome, OMIM:617190 for gene: ASXL2
Publications for gene: ASXL2 were updated from to 27693232; 33751773
Fetal anomalies v4.34 ARL3 Achchuthan Shanmugasundram gene: ARL3 was added
gene: ARL3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ARL3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL3 were set to 30269812; 16565502
Phenotypes for gene: ARL3 were set to Joubert syndrome 35, OMIM:618161
Fetal anomalies v4.34 ARID2 Achchuthan Shanmugasundram Source NHS GMS was added to ARID2.
Mode of inheritance for gene ARID2 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Coffin-Siris syndrome 6, OMIM:617808 for gene: ARID2
Publications for gene: ARID2 were updated from to 28884947; 26238514; 35813374; 30838730; 28124119; 29698805
Fetal anomalies v4.34 ARF1 Achchuthan Shanmugasundram gene: ARF1 was added
gene: ARF1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ARF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ARF1 were set to 28868155; 34353862
Phenotypes for gene: ARF1 were set to Periventricular nodular heterotopia 8, OMIM:618185
Fetal anomalies v4.34 APC2 Achchuthan Shanmugasundram gene: APC2 was added
gene: APC2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: APC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: APC2 were set to 31585108
Phenotypes for gene: APC2 were set to Cortical dysplasia, complex, with other brain malformations 10, OMIM:618677
Fetal anomalies v4.34 ANKRD17 Achchuthan Shanmugasundram gene: ANKRD17 was added
gene: ANKRD17 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ANKRD17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ANKRD17 were set to 33909992
Phenotypes for gene: ANKRD17 were set to multiple congenital malformations; Chopra-Amiel-Gordon syndrome, OMIM:619504
Fetal anomalies v4.34 ANKLE2 Achchuthan Shanmugasundram gene: ANKLE2 was added
gene: ANKLE2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ANKLE2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANKLE2 were set to 31735666; 25259927; 30214071
Phenotypes for gene: ANKLE2 were set to Microcephaly 16, primary, autosomal recessive, OMIM:616681
Fetal anomalies v4.34 ANGPT2 Achchuthan Shanmugasundram Source NHS GMS was added to ANGPT2.
Mode of inheritance for gene ANGPT2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Added phenotypes hydrops fetalis, MONDO:0015193 for gene: ANGPT2
Fetal anomalies v4.34 AMBRA1 Achchuthan Shanmugasundram Source NHS GMS was added to AMBRA1.
Source Expert Review Red was added to AMBRA1.
Publications for gene: AMBRA1 were updated from 17589504; 32333458 to 32333458; 17589504
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 ALPK3 Achchuthan Shanmugasundram gene: ALPK3 was added
gene: ALPK3 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ALPK3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALPK3 were set to 26846950; 28630369
Phenotypes for gene: ALPK3 were set to Cardiomyopathy, familial hypertrophic 27, OMIM:618052
Fetal anomalies v4.34 ALG14 Achchuthan Shanmugasundram gene: ALG14 was added
gene: ALG14 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ALG14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALG14 were set to 34971077; 23404334; 28733338; 30221345
Phenotypes for gene: ALG14 were set to ?Myasthenic syndrome, congenital, 15, without tubular aggregates, OMIM:616227; Myopathy, epilepsy, and progressive cerebral atrophy, OMIM:619036
Fetal anomalies v4.34 ALDH1A2 Achchuthan Shanmugasundram gene: ALDH1A2 was added
gene: ALDH1A2 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ALDH1A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALDH1A2 were set to 33565183; 36263470
Phenotypes for gene: ALDH1A2 were set to Diaphragmatic hernia 4, with cardiovascular defects, OMIM:620025
Fetal anomalies v4.34 ALB Achchuthan Shanmugasundram gene: ALB was added
gene: ALB was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ALB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALB were set to 31057599; 15300429; 23730173
Phenotypes for gene: ALB were set to Analbuminemia, OMIM:616000
Fetal anomalies v4.34 AIMP1 Achchuthan Shanmugasundram Source NHS GMS was added to AIMP1.
Source Expert Review Red was added to AIMP1.
Added phenotypes Leukodystrophy, hypomyelinating, 3, OMIM:260600 for gene: AIMP1
Publications for gene: AIMP1 were updated from to 32531460; 33402283; 21092922; 24958424; 30477741; 30486714; 26173967
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 AFF3 Achchuthan Shanmugasundram Source NHS GMS was added to AFF3.
Mode of inheritance for gene AFF3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes KINSSHIP syndrome, OMIM:619297 for gene: AFF3
Publications for gene: AFF3 were updated from to 31388108; 33961779
Fetal anomalies v4.34 ADCY6 Achchuthan Shanmugasundram gene: ADCY6 was added
gene: ADCY6 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ADCY6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADCY6 were set to 33820833; 26257172; 24319099; 31846058
Phenotypes for gene: ADCY6 were set to Lethal congenital contracture syndrome 8, OMIM:616287; MONDO:0014570
Fetal anomalies v4.34 ADAMTS19 Achchuthan Shanmugasundram gene: ADAMTS19 was added
gene: ADAMTS19 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ADAMTS19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAMTS19 were set to 31844321; 32323311
Phenotypes for gene: ADAMTS19 were set to Cardiac valvular dysplasia 2, OMIM:620067
Fetal anomalies v4.34 ACVRL1 Achchuthan Shanmugasundram Source NHS GMS was added to ACVRL1.
Mode of inheritance for gene ACVRL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ACVRL1 were updated from 27381467; 32170914 to 21988128; 26126400; 27381467; 32170914
Fetal anomalies v4.34 ACVR1 Achchuthan Shanmugasundram Source NHS GMS was added to ACVR1.
Mode of inheritance for gene ACVR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added phenotypes Fibrodysplasia ossificans progressiva, OMIM:135100 for gene: ACVR1
Publications for gene: ACVR1 were updated from to 16642017; 29089047
Fetal anomalies v4.34 ACSL4 Achchuthan Shanmugasundram Source NHS GMS was added to ACSL4.
Source Expert Review Red was added to ACSL4.
Added phenotypes Mental retardation, X-linked 63 , OMIM:300387 for gene: ACSL4
Publications for gene: ACSL4 were updated from to 12525535
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v4.34 ABHD16A Achchuthan Shanmugasundram gene: ABHD16A was added
gene: ABHD16A was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS
Mode of inheritance for gene: ABHD16A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ABHD16A were set to 34866177; 34489854; 34587489
Phenotypes for gene: ABHD16A were set to Spastic paraplegia 86, autosomal recessive, OMIM:619735
Fetal anomalies v4.33 RMRP Sarah Leigh commented on gene: RMRP
Fetal anomalies v4.33 H19 Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: H19.
Fetal anomalies v4.33 GATA1 Sarah Leigh Tag Q3_24_promote_green tag was added to gene: GATA1.
Tag Q3_24_expert_review tag was added to gene: GATA1.
Fetal anomalies v4.33 GATA1 Sarah Leigh changed review comment from: Three GATA1 variants have been associated with OMIM:301083, including fetal hydrops in at least three unrelated cases (PMID: 20301538; 30914438; 29949202; 35580337).; to: Three GATA1 variants have been associated with OMIM:301083, including fetal hydrops in at least three unrelated cases (PMID: 20301538; 30914438; 29949202; 35580337). This gene could be relevant to the fetal anomalies panel.
Fetal anomalies v4.33 GATA1 Sarah Leigh Classified gene: GATA1 as Amber List (moderate evidence)
Fetal anomalies v4.33 GATA1 Sarah Leigh Gene: gata1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.32 GATA1 Sarah Leigh Entity copied from Fetal hydrops v1.86
Fetal anomalies v4.32 GATA1 Sarah Leigh gene: GATA1 was added
gene: GATA1 was added to Fetal anomalies. Sources: Expert Review Green,Expert list
Mode of inheritance for gene: GATA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: GATA1 were set to 10700180; 33082562; 20301538; 30914438; 29949202; 35580337
Phenotypes for gene: GATA1 were set to Anaemia, X-linked, with/without neutropaenia and/or platelet abnormalities, OMIM:300835; Hemolytic anemia due to elevated adenosine deaminase, OMIM:301083
Fetal anomalies v4.31 MT-TP Sarah Leigh Tag locus-type-rna-transfer tag was added to gene: MT-TP.
Fetal anomalies v4.31 RMRP Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: RMRP.
Fetal anomalies v4.31 SNORD118 Sarah Leigh Tag locus-type-small-nucleolar tag was added to gene: SNORD118.
Fetal anomalies v4.31 RNU4ATAC Sarah Leigh Tag locus-type-rna-small-nuclear tag was added to gene: RNU4ATAC.
Fetal anomalies v4.31 DCC Achchuthan Shanmugasundram Classified gene: DCC as Amber List (moderate evidence)
Fetal anomalies v4.31 DCC Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Fetal anomalies v4.31 DCC Achchuthan Shanmugasundram Gene: dcc has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.30 DCC Achchuthan Shanmugasundram Phenotypes for gene: DCC were changed from Midline-bridging neuronal commissure disruption, horizontal gaze palsy, scoliosis, and intellectual disability to Mirror movements 1 and/or agenesis of the corpus callosum, OMIM:157600; Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542
Fetal anomalies v4.29 DCC Achchuthan Shanmugasundram Publications for gene: DCC were set to
Fetal anomalies v4.28 DCC Achchuthan Shanmugasundram Mode of inheritance for gene: DCC was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.27 DCC Achchuthan Shanmugasundram Tag Q3_24_promote_green tag was added to gene: DCC.
Fetal anomalies v4.27 DCC Achchuthan Shanmugasundram reviewed gene: DCC: Rating: GREEN; Mode of pathogenicity: None; Publications: 19127048, 19720981, 20431009, 21242494, 28250454, 31697046, 28250456, 33141514; Phenotypes: Mirror movements 1 and/or agenesis of the corpus callosum, OMIM:157600, Gaze palsy, familial horizontal, with progressive scoliosis, 2, OMIM:617542; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v4.27 MIR17HG Sarah Leigh Tag locus-type-rna-long-non-coding tag was added to gene: MIR17HG.
Fetal anomalies v4.27 FZD6 Sarah Leigh Phenotypes for gene: FZD6 were changed from NAIL DISORDER NON-SYNDROMIC CONGENITAL TYPE 10 to Nail disorder, nonsyndromic congenital, 1, OMIM:161050
Fetal anomalies v4.26 FZD6 Sarah Leigh Publications for gene: FZD6 were set to
Fetal anomalies v4.25 FZD6 Sarah Leigh Classified gene: FZD6 as Amber List (moderate evidence)
Fetal anomalies v4.25 FZD6 Sarah Leigh Gene: fzd6 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.24 FZD6 Sarah Leigh reviewed gene: FZD6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.24 ANGPT2 Sarah Leigh Entity copied from Fetal hydrops v1.67
Fetal anomalies v4.24 ANGPT2 Sarah Leigh gene: ANGPT2 was added
gene: ANGPT2 was added to Fetal anomalies. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: ANGPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ANGPT2 were set to 32908006; 34876502
Phenotypes for gene: ANGPT2 were set to Lymphatic malformation 10 OMIM:619369; lymphatic malformation 10 MONDO:0023662
Fetal anomalies v4.23 ESAM Achchuthan Shanmugasundram Tag Q4_23_expert_review was removed from gene: ESAM.
Tag Q4_23_NHS_review tag was added to gene: ESAM.
Fetal anomalies v4.23 MED12 Achchuthan Shanmugasundram Deleted their review
Fetal anomalies v4.23 MED12 Achchuthan Shanmugasundram reviewed gene: MED12: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v4.23 USP14 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There are four unrelated families snd functional evidence in support of the association of this gene to this panel. Hence, this gene can be promoted to green rating in the next GMS review.; to: Comment on list classification: There are four unrelated families and functional evidence in support of the association of this gene to this panel. Hence, this gene can be promoted to green rating in the next GMS review.
Fetal anomalies v4.23 USP14 Achchuthan Shanmugasundram Classified gene: USP14 as Amber List (moderate evidence)
Fetal anomalies v4.23 USP14 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are four unrelated families snd functional evidence in support of the association of this gene to this panel. Hence, this gene can be promoted to green rating in the next GMS review.
Fetal anomalies v4.23 USP14 Achchuthan Shanmugasundram Gene: usp14 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.22 USP14 Achchuthan Shanmugasundram Publications for gene: USP14 were set to 38469793
Fetal anomalies v4.21 USP14 Achchuthan Shanmugasundram Phenotypes for gene: USP14 were changed from Syndromic disease MONDO:0002254, USP14-related to syndromic disease, MONDO:0002254; distal arthrogryposis, MONDO:0019942
Fetal anomalies v4.20 USP14 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: USP14.
Fetal anomalies v4.20 USP14 Achchuthan Shanmugasundram reviewed gene: USP14: Rating: GREEN; Mode of pathogenicity: None; Publications: 35066879, 38469793; Phenotypes: syndromic disease, MONDO:0002254, distal arthrogryposis, MONDO:0019942; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.20 MDFIC Achchuthan Shanmugasundram Classified gene: MDFIC as Amber List (moderate evidence)
Fetal anomalies v4.20 MDFIC Achchuthan Shanmugasundram Added comment: Comment on list classification: There is sufficient evidence available (six unrelated cases and functional evidence) for the promotion of this gene to green rating in the next GMS update.
Fetal anomalies v4.20 MDFIC Achchuthan Shanmugasundram Gene: mdfic has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.19 MDFIC Achchuthan Shanmugasundram Phenotypes for gene: MDFIC were changed from conducting lymphatic anomaly with lymphedema to Lymphatic malformation 12, OMIM:620014
Fetal anomalies v4.18 MDFIC Achchuthan Shanmugasundram Publications for gene: MDFIC were set to PMID: 35235341
Fetal anomalies v4.17 MDFIC Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: MDFIC.
Fetal anomalies v4.17 MDFIC Achchuthan Shanmugasundram reviewed gene: MDFIC: Rating: GREEN; Mode of pathogenicity: None; Publications: 35235341; Phenotypes: Lymphatic malformation 12, OMIM:620014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.17 KCNK9 Achchuthan Shanmugasundram Tag Q2_24_NHS_review tag was added to gene: KCNK9.
Fetal anomalies v4.17 KCNT1 Achchuthan Shanmugasundram Classified gene: KCNT1 as Amber List (moderate evidence)
Fetal anomalies v4.17 KCNT1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Sarah Graham, PMID:36307859 reported a foetus with increased nuchal translucency and bilateral choroid plexus cysts. Hence, the rating can be updated from red to amber.
Fetal anomalies v4.17 KCNT1 Achchuthan Shanmugasundram Gene: kcnt1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.16 KCNT1 Achchuthan Shanmugasundram Mode of inheritance for gene: KCNT1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.15 KCNK9 Achchuthan Shanmugasundram Classified gene: KCNK9 as Amber List (moderate evidence)
Fetal anomalies v4.15 KCNK9 Achchuthan Shanmugasundram Added comment: Comment on list classification: There are several unrelated cases reported with KCNK9 variants and Birk-Barel syndrome (MIM #612292). Clinical presentations include motor and speech delay, impaired intellectual development, early feeding difficulties, muscular hypotonia, behavioral abnormalities and dysmorphic features.

In addition, this gene has also been associated with phenotypes on the DD panel of Gene2Phenotype resource with 'limited' rating.

As reviewed by Sarah Graham, a foetus has also been reported with KCNK9 variant and with phenotypes consistent with this disorder.

Hence, this gene can be promoted to green rating in the next GMS update.
Fetal anomalies v4.15 KCNK9 Achchuthan Shanmugasundram Gene: kcnk9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.14 KCNK9 Achchuthan Shanmugasundram Phenotypes for gene: KCNK9 were changed from to Birk-Barel syndrome, OMIM:612292
Fetal anomalies v4.13 KCNK9 Achchuthan Shanmugasundram Publications for gene: KCNK9 were set to PMID: 36307859
Fetal anomalies v4.12 KCNK9 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: KCNK9.
Fetal anomalies v4.12 KCNK9 Achchuthan Shanmugasundram reviewed gene: KCNK9: Rating: GREEN; Mode of pathogenicity: None; Publications: 36307859; Phenotypes: Birk-Barel syndrome, OMIM:612292; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Fetal anomalies v4.12 GNB2 Achchuthan Shanmugasundram Tag Q2_24_NHS_review tag was added to gene: GNB2.
Fetal anomalies v4.12 GNB2 Achchuthan Shanmugasundram Classified gene: GNB2 as Amber List (moderate evidence)
Fetal anomalies v4.12 GNB2 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Sarah Graham, monoallelic GNB2 variants are associated with a neurodevelopmental disorder with features including dysmorphic facial features, cardiac and renal abnormalities.

This gene has been associated with phenotypes in OMIM (MIM #619503) and DD panel of Gene2Phenotype resource (with 'Definitive' rating, previously known as 'confirmed').

A foetus was also reported with phenotypes consistent with this gene.

Hence, this gene can be promoted to green rating in the next GMS update.
Fetal anomalies v4.12 GNB2 Achchuthan Shanmugasundram Gene: gnb2 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.11 GNB2 Achchuthan Shanmugasundram Phenotypes for gene: GNB2 were changed from to Neurodevelopmental disorder with hypotonia and dysmorphic facies, OMIM:619503
Fetal anomalies v4.10 GNB2 Achchuthan Shanmugasundram Publications for gene: GNB2 were set to 36658419
Fetal anomalies v4.9 GNB2 Achchuthan Shanmugasundram Tag Q2_24_promote_green tag was added to gene: GNB2.
Fetal anomalies v4.9 GNB2 Achchuthan Shanmugasundram reviewed gene: GNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31698099, 34183358, 36658419; Phenotypes: Neurodevelopmental disorder with hypotonia and dysmorphic facies, OMIM:619503; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.9 CLCN5 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: AS reviewed by Sarah Graham, this gene has been rated red in this panel.; to: Comment on list classification: As reviewed by Sarah Graham, this gene has been rated red in this panel.
Fetal anomalies v4.9 CLCN5 Achchuthan Shanmugasundram Classified gene: CLCN5 as Red List (low evidence)
Fetal anomalies v4.9 CLCN5 Achchuthan Shanmugasundram Added comment: Comment on list classification: AS reviewed by Sarah Graham, this gene has been rated red in this panel.
Fetal anomalies v4.9 CLCN5 Achchuthan Shanmugasundram Gene: clcn5 has been classified as Red List (Low Evidence).
Fetal anomalies v4.8 CLCN5 Achchuthan Shanmugasundram Classified gene: CLCN5 as Red List (low evidence)
Fetal anomalies v4.8 CLCN5 Achchuthan Shanmugasundram Gene: clcn5 has been classified as Red List (Low Evidence).
Fetal anomalies v4.7 ARV1 Achchuthan Shanmugasundram Classified gene: ARV1 as Amber List (moderate evidence)
Fetal anomalies v4.7 ARV1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Sarah Graham, there are four cases from three different families (including two foetuses from a single family) reported with biallelic ARV1 variants and prenatal abnormalities. However, it should be noted that multiple major structural anomalies were not reported in these cases. Hence, this gene should be rated amber with the current evidence.
Fetal anomalies v4.7 ARV1 Achchuthan Shanmugasundram Gene: arv1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v4.6 ARV1 Achchuthan Shanmugasundram Phenotypes for gene: ARV1 were changed from to Developmental and epileptic encephalopathy 38, OMIM:617020
Fetal anomalies v4.5 ARV1 Achchuthan Shanmugasundram Publications for gene: ARV1 were set to PMID: 36307859; 34296759
Fetal anomalies v4.4 ARV1 Achchuthan Shanmugasundram reviewed gene: ARV1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34296759, 36307859; Phenotypes: Developmental and epileptic encephalopathy 38, OMIM:617020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v4.4 CLCN5 Sarah Leigh Phenotypes for gene: CLCN5 were changed from to Dent disease 1, OMIM:300009; Hypophosphatemic rickets, OMIM:300554; Nephrolithiasis, type I, OMIM:310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, OMIM:308990
Fetal anomalies v4.3 GNB2 Sarah Graham gene: GNB2 was added
gene: GNB2 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: GNB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: GNB2 were set to 36658419
Mode of pathogenicity for gene: GNB2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Review for gene: GNB2 was set to GREEN
Added comment: Gene associated with autosomal dominant neurodevelopmental disorder; features include dysmorphic facial features, cardiac and renal abnormalities (OMIM #619503). Recurrent de novo pathogenic missense variant p.(Lys89Glu) (https://www.ncbi.nlm.nih.gov/clinvar/variation/1217306/) reported in a fetus with phenotype consistent with this gene: cardiac abnormalities (hypoplastic left heart and hypoplastic aortic arch, double outlet right ventricle, great arteries located side-by-side, ventricular septal defect, persistent left superior vena cava connecting to coronary sinus), renal agenesis, mildly dysmorphic facies (Byrne 2023 PMID: 36658419).
Sources: Literature
Fetal anomalies v4.3 KCNT1 Sarah Graham reviewed gene: KCNT1: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 36307859; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v4.3 CLCN5 Sarah Graham gene: CLCN5 was added
gene: CLCN5 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CLCN5 were set to 36307859; 36495297; 37229200
Review for gene: CLCN5 was set to RED
Added comment: Loss-of-function variants associated with X-linked recessive renal tubular disorders. Maternally inherited hemizygous splice variant, c.934-1G>T, reported in 3 male fetuses with variable phenotypes across 3 studies from the same centre. Phenotypes in reported cases: polyhydramnios and large size for gestational age (Fu 2022 PMID: 36307859, case 229); growth restriction, polyhydramnios, pre-term birth at 31 weeks (Zhou 2023 PMID: 36495297, patient 5); microcephaly (Wang 2023 PMID: 37229200, patient 18). No definitive evidence that this variant is pathogenic. As all prenatal reports are of the same variant and from the same centre, concern that these may be incidental findings due to variant frequency in the local population (variant absent from gnomAD).
Sources: Literature
Fetal anomalies v4.3 ARV1 Sarah Graham gene: ARV1 was added
gene: ARV1 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ARV1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARV1 were set to PMID: 36307859; 34296759
Review for gene: ARV1 was set to AMBER
Added comment: Biallelic loss-of-function variants associated with autosomal recessive developmental and epileptic encephalopathy-38 (DEE38). Biallelic variants reported prenatally in 3 families (4 fetuses) in association with abnormal scan findings, particularly renal abnormalities. Renal abnormalities are not a common postnatal finding in this disorder, so causal relationship to scan findings is unclear.

Salian 2021 PMID: 34296759, patient 3 - compound heterozygous frameshift and missense variants, p.(Pro174Alafs*14) and p.(Cys34Tyr), with prenatal hydronephrosis, postnatally profound ID, seizures, genitourinary abnormalities. Salian 2021 PMID: 34296759, Patients 5/6 (successive pregnancies of consanguineous parents) - homozygous c.674-1G>A; patient 5 termination at week 22 due to megaureter, small femora and humeri and narrow thorax; patient 6 NT 6.3 mm at week 14, bilaterally dilated renal pelvis at week 16+1. Fu 2022 PMID: 36307859 - compound het frameshift variants, p.(Glu137Asnfs*13) and p.(Pro174Alafs*14), reported in a fetus with dilation of lateral ventricles and polyhydramnios.
Sources: Literature
Fetal anomalies v4.3 KCNK9 Sarah Graham gene: KCNK9 was added
gene: KCNK9 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: KCNK9 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)
Publications for gene: KCNK9 were set to PMID: 36307859
Review for gene: KCNK9 was set to GREEN
Added comment: The recurrent p.(Gly236Arg) variant is well established as the cause of KCNK9 Imprinting Syndrome / Birk-Barel Syndrome (OMIM #612292) when present on the maternal allele. This variant has been reported as a de novo finding on exome sequencing in a fetus with scan findings consistent with this disorder (micrognathia, cleft palate). PMID: 36307859
Sources: Literature
Fetal anomalies v4.3 TLL1 Arina Puzriakova Classified gene: TLL1 as Green List (high evidence)
Fetal anomalies v4.3 TLL1 Arina Puzriakova Added comment: Comment on list classification: TLL1 was re-reviewed by the GMS specialist team and it was decided that this gene should be demoted from Green to Amber, in line with the review by Stephanie Allen (Birmingham Women's Hospital).
Fetal anomalies v4.3 TLL1 Arina Puzriakova Gene: tll1 has been classified as Green List (High Evidence).
Fetal anomalies v4.2 TLL1 Arina Puzriakova Tag Q2_24_demote_amber tag was added to gene: TLL1.
Tag Q2_24_NHS_review tag was added to gene: TLL1.
Fetal anomalies v4.2 CELSR1 Arina Puzriakova Classified gene: CELSR1 as Green List (high evidence)
Fetal anomalies v4.2 CELSR1 Arina Puzriakova Added comment: Comment on list classification: CELSR1 was re-reviewed by the GMS specialist team and it was decided that this gene should be demoted from Green to Amber, in line with the review by Stephanie Allen (Birmingham Women's Hospital).
Fetal anomalies v4.2 CELSR1 Arina Puzriakova Gene: celsr1 has been classified as Green List (High Evidence).
Fetal anomalies v4.1 CELSR1 Arina Puzriakova Tag Q2_24_demote_amber tag was added to gene: CELSR1.
Tag Q2_24_NHS_review tag was added to gene: CELSR1.
Fetal anomalies v4.1 MDFIC Dmitrijs Rots gene: MDFIC was added
gene: MDFIC was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: MDFIC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MDFIC were set to PMID: 35235341
Phenotypes for gene: MDFIC were set to conducting lymphatic anomaly with lymphedema
Review for gene: MDFIC was set to GREEN
Added comment: Six independet families with specific phenotype and AR inheritance + mouse model. Enough for green rating.
Sources: Literature
Fetal anomalies v4.1 CELSR1 Stephanie Allen changed review comment from: This gene and phenotype were re-reviewed by the fetal anomaly panel review group in May 2024. Suggest downgrade to amber:
Clingen presentation - 3 phenotypes linked NTD as a susceptibility locus only, epilepsy no obvious prenatal link. Lymphatic malformations good evidence for truncating variants only. Variable expressivity/penetrance in males. Females earliest onset reported form birth but no evidence of hydrops. Usual onset adolescents. Not enough evidence, suggest Amber to watch for link to hydrops.; to: This gene and phenotype were re-reviewed by the fetal anomaly panel review group in May 2024. Suggest downgrade to amber:
Clingen presentation - 3 phenotypes linked NTD as a susceptibility locus only, epilepsy no obvious prenatal link. Lymphatic malformations good evidence for truncating variants only. Variable expressivity/penetrance in males. Females earliest onset reported form birth but no evidence of hydrops. Usual onset adolescents. Not enough evidence, suggest Amber to watch for link to hydrops.
Fetal anomalies v4.1 TLL1 Stephanie Allen reviewed gene: TLL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v4.1 CELSR1 Stephanie Allen reviewed gene: CELSR1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v4.1 Arina Puzriakova Panel version 4.0 has been signed off on 2024-05-01
Fetal anomalies v4.0 Arina Puzriakova promoted panel to version 4.0
Fetal anomalies v3.169 CENPF Arina Puzriakova Phenotypes for gene: CENPF were changed from Stromme syndrome, 243605 to Stromme syndrome, OMIM:243605
Fetal anomalies v3.168 IGF1 Arina Puzriakova Phenotypes for gene: IGF1 were changed from INSULIN-LIKE GROWTH FACTOR I DEFICIENCY to Insulin-like growth factor I deficiency, OMIM:608747
Fetal anomalies v3.167 LIG4 Arina Puzriakova Phenotypes for gene: LIG4 were changed from SEVERE COMBINED IMMUNODEFICIENCY AUTOSOMAL RECESSIVE T-CELL-NEGATIVE/B-CELL-NEGATIVE/NK-CELL-POSITIVE WITH SENSITIVITY TO IONIZING RADIATION; LIG4 SYNDROME to LIG4 syndrome, OMIM:606593
Fetal anomalies v3.166 ORC1 Arina Puzriakova Phenotypes for gene: ORC1 were changed from MEIER-GORLIN SYNDROME 1 to Meier-Gorlin syndrome 1, OMIM:224690
Fetal anomalies v3.165 ORC4 Arina Puzriakova Phenotypes for gene: ORC4 were changed from MEIER-GORLIN SYNDROME 2 to Meier-Gorlin syndrome 2, OMIM:613800
Fetal anomalies v3.164 ORC6 Arina Puzriakova Phenotypes for gene: ORC6 were changed from MEIER-GORLIN SYNDROME 3 to Meier-Gorlin syndrome 3, OMIM:613803
Fetal anomalies v3.163 PCNT Arina Puzriakova Phenotypes for gene: PCNT were changed from MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE II to Microcephalic osteodysplastic primordial dwarfism, type II, OMIM:210720
Fetal anomalies v3.162 RNU4ATAC Arina Puzriakova Phenotypes for gene: RNU4ATAC were changed from MICROCEPHALIC OSTEODYSPLASTIC PRIMORDIAL DWARFISM, TYPE I to Microcephalic osteodysplastic primordial dwarfism, type I, OMIM:210710
Fetal anomalies v3.161 TRAIP Arina Puzriakova Phenotypes for gene: TRAIP were changed from Seckel syndrome 9 to Seckel syndrome 9, OMIM:616777
Fetal anomalies v3.160 XRCC4 Arina Puzriakova Phenotypes for gene: XRCC4 were changed from PRIMORDIAL DWARFISM to Short stature, microcephaly, and endocrine dysfunction, OMIM:616541
Fetal anomalies v3.159 CDC6 Arina Puzriakova Phenotypes for gene: CDC6 were changed from MEIER-GORLIN SYNDROME 5 to Meier-Gorlin syndrome 5, OMIM:613805
Fetal anomalies v3.158 CDT1 Arina Puzriakova Phenotypes for gene: CDT1 were changed from MEIER-GORLIN SYNDROME 4 to Meier-Gorlin syndrome 4, OMIM:613804
Fetal anomalies v3.157 USP14 Zornitza Stark gene: USP14 was added
gene: USP14 was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: USP14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP14 were set to 38469793
Phenotypes for gene: USP14 were set to Syndromic disease MONDO:0002254, USP14-related
Review for gene: USP14 was set to AMBER
Added comment: PMID 38469793: biallelic USP14 variants in four individuals from three unrelated families: one fetus, a newborn with a syndromic NDD, and two siblings affected by a progressive neurological disease. Specifically, the two siblings from the latter family carried two compound heterozygous variants c.8T>C p.(Leu3Pro) and c.988C>T p.(Arg330*), while the fetus had a homozygous frameshift c.899_902del p.(Lys300Serfs*24) variant and the newborn patient harbored a homozygous frameshift c.233_236del p.(Leu78Glnfs*11) variant. The fetus and the newborn had extensive brain malformations.
Sources: Literature
Fetal anomalies v3.157 PLD1 Arina Puzriakova changed review comment from: Comment on list classification: This Green gene was signed off in Nov 2022 but now flagging for another review by the GMS specialist group in the context of the conflicting Red review by Jesse Hayesmoore (Oxford Regional Genetics Laboratory) to determine whether this gene should be downgraded.; to: Comment on list classification: This Green gene was signed off in Mar 2023 but now flagging for another review by the GMS specialist group in the context of the conflicting Red review by Jesse Hayesmoore (Oxford Regional Genetics Laboratory) to determine whether this gene should be downgraded.
Fetal anomalies v3.157 PLD1 Arina Puzriakova Classified gene: PLD1 as Green List (high evidence)
Fetal anomalies v3.157 PLD1 Arina Puzriakova Added comment: Comment on list classification: This Green gene was signed off in Nov 2022 but now flagging for another review by the GMS specialist group in the context of the conflicting Red review by Jesse Hayesmoore (Oxford Regional Genetics Laboratory) to determine whether this gene should be downgraded.
Fetal anomalies v3.157 PLD1 Arina Puzriakova Gene: pld1 has been classified as Green List (High Evidence).
Fetal anomalies v3.156 PLD1 Arina Puzriakova Tag Q2_24_demote_red tag was added to gene: PLD1.
Tag Q2_24_expert_review tag was added to gene: PLD1.
Fetal anomalies v3.156 PLD1 Arina Puzriakova commented on gene: PLD1: Copied review from Paediatric or syndromic cardiomyopathy (749) v3.43 panel:

Jesse Hayesmoore (Oxford Regional Genetics Laboratory)
Red List (low evidence)

"On the basis of functional data described in PMIDs: 27799408 and 33645542, PLD1 certainly seems to be a plausible functional candidate for causality of cardiac valvular defects. The main paper linking this gene with congenital heart disease / cardiomyopathy is Lahrouchi et al. (2021; PMID: 33645542; note this also includes the same 2 cases as described in Ta-Shma et al. 2017 PMID: 27799408). The paper presents 19 families with severe fetal- / neonatal-onset congenital heart (mainly valvular) defects and 2 with cardiomyopathy where affected babies were homozygous or compound heterozygous for PLD1 variants. The paper also provides some functional analysis of missense variants detected, showing that many but not all of them result significant loss of PLD1 function. Unfortunately, the paper does not include a LOD score, and there is very little cosegregation data presented for any of the variants. In addition, 4 of the 31 variants they promote as pathogenic for autosomal recessive disease are detected in multiple homozygous individuals on gnomAD, which I think provides significant evidence that they might not be pathogenic for a severe autosomal recessive condition. Most notably, 1 of the variants (i.e. I668F), which the authors promote as a pathogenic Ashkenazi Jewish founder variant (but which is also fairly frequent in non-Finnish Europeans) is detected in 7 homozygotes on gnomAD and was found to have ~80% loss of PLD1 function in their assay. This suggests that significant loss of function of this gene (i.e. down to 20%) might not be causative of a severe recessive condition (that is not to say that total or near total loss of function is not causative). Three other of the variants promoted as pathogenic in this article are also detected in homozygotes on gnomAD.

I think one of the major pieces of missing information required to make a full assessment of this gene’s linkage to disease is that is unknown how frequent biallelic (apparently loss of function) variant genotypes are in the general population or in healthy control individuals. Although homozygosity for any one variant can be determined from gnomAD, compound heterozygosity (which is likely to represent the vast majority of biallelic genotypes) cannot be assessed on gnomAD, and I can find no record in the literature of this being assessed in a normal control cohort. Without this information, we cannot know whether biallelic PLD1 genotypes are specific to babies with this severe phenotype. Without knowing this, and in the absence of any significant cosegregation data for any variant, there is no reasonable basis upon which one can conclude that this is a valid autosomal recessive gene for the phenotype. Without such validation, PVS1 cannot be applied for any apparent loss of function variant. Given this, and the general lack of cosegregation data for any one variant, I do not believe there is any PLD1 variant reported in the literature that could be classified as anything but uncertain significance (if not benign or likely benign) on the basis of current variant classification guidelines. Also, there are only two cases of biallelic variants in neonates where the primary phenotype is cardiomyopathy, and of these only one was dilated cardiomyopathy (the other was histiocytoid cardiomyopathy). Hence, the evidence linking this gene to cardiomyopathy is even weaker than it is for valvular defects. I, therefore, do not feel there is sufficient evidence to justify this gene being tested as part of the R135 paediatric cardiomyopathy gene panel.

Other papers (e.g. PMIDs: 33142350, 35380090, 36923242, 37770978) reporting a link between PLD1 genotypes and early onset cardiac disease (not cardiomyopathy) have been published. However, again, I do not think there is sufficient data in the articles to allow any of the variants detected to be confidently classified as anything but VUS according to current variant classification guidelines."
Created: 31 Jan 2024, 12:04 p.m. | Last Modified: 31 Jan 2024, 12:17 p.m
Fetal anomalies v3.156 GLI3 Arina Puzriakova Phenotypes for gene: GLI3 were changed from PALLISTER-HALL SYNDROME; GREIG CEPHALOPOLYSYNDACTYLY SYNDROME; PREAXIAL POLYDACTYLY TYPE IV; POSTAXIAL POLYDACTYLY TYPE A to Greig cephalopolysyndactyly syndrome, OMIM:175700; Pallister-Hall syndrome, OMIM:146510; Polydactyly, postaxial, types A1 and B, OMIM:174200; Polydactyly, preaxial, type IV, OMIM:174700
Fetal anomalies v3.155 GRM1 Arina Puzriakova Classified gene: GRM1 as Red List (low evidence)
Fetal anomalies v3.155 GRM1 Arina Puzriakova Added comment: Comment on list classification: Demoted from Amber to Red inline with review by Zornitza Stark. Could not find any evidence of prenatal phenotypes in patients with GRM1 variants.
Fetal anomalies v3.155 GRM1 Arina Puzriakova Gene: grm1 has been classified as Red List (Low Evidence).
Fetal anomalies v3.154 ADA Arina Puzriakova Phenotypes for gene: ADA were changed from Combined B and T cell defect; Adenosine deaminase deficiency (Disorders of purine metabolism); SCID; Infantile enterocolitis & monogenic inflammatory bowel disease to Severe combined immunodeficiency due to ADA deficiency, OMIM:102700; Adenosine deaminase deficiency, partial, OMIM:102700
Fetal anomalies v3.153 ADA Arina Puzriakova Phenotypes for gene: ADA were changed from ADENOSINE DEAMINASE DEFICIENCY to Combined B and T cell defect; Adenosine deaminase deficiency (Disorders of purine metabolism); SCID; Infantile enterocolitis & monogenic inflammatory bowel disease
Fetal anomalies v3.152 NRXN2 Sarah Leigh Classified gene: NRXN2 as Red List (low evidence)
Fetal anomalies v3.152 NRXN2 Sarah Leigh Added comment: Comment on list classification: There insufficient evidence between NRXN2 variants and autism for this gene to be rated amber.
Fetal anomalies v3.152 NRXN2 Sarah Leigh Gene: nrxn2 has been classified as Red List (Low Evidence).
Fetal anomalies v3.151 RRAS Sarah Leigh Tag Q2_24_promote_green tag was added to gene: RRAS.
Fetal anomalies v3.151 RRAS Sarah Leigh edited their review of gene: RRAS: Added comment: RRAS variants have not associated with a phenotype in OMIM or MONDO, but Gen2Phen lists a strong association between RRAS variants and RRAS-related atypical Noonan syndrome. Three germline RRAS variants have been reported (PMID: 24705357; 32815881; 34935735), associated with a RASopathy, which includes myelodysplastic syndrome and contributes to leukaemogenesis.; Changed rating: GREEN; Changed publications to: 24705357, 32815881, 34935735
Fetal anomalies v3.151 RRAS Sarah Leigh Added comment: Comment on phenotypes: Phenotype from Gen2Phen
Fetal anomalies v3.151 RRAS Sarah Leigh Phenotypes for gene: RRAS were changed from ATYPICAL NOONAN SYNDROME to RRAS-related atypical Noonan syndrome
Fetal anomalies v3.150 RRAS Sarah Leigh Publications for gene: RRAS were set to
Fetal anomalies v3.149 NRXN2 Sarah Leigh Publications for gene: NRXN2 were set to
Fetal anomalies v3.147 FZD5 Arina Puzriakova Added comment: Comment on phenotypes: Gene-checked tag removed as this gene now has a relevant phenotype listed in OMIM (Microphthalmia/coloboma 11, OMIM:620731)
Fetal anomalies v3.147 FZD5 Arina Puzriakova Phenotypes for gene: FZD5 were changed from Autosomal Dominant Coloboma to Microphthalmia/coloboma 11, OMIM:620731
Fetal anomalies v3.146 RECQL4 Arina Puzriakova Phenotypes for gene: RECQL4 were changed from RAPADILINO SYNDROME; ROTHMUND-THOMSON SYNDROME; BALLER-GEROLD SYNDROME to Baller-Gerold syndrome, OMIM:218600; RAPADILINO syndrome, OMIM:266280; Rothmund-Thomson syndrome, type 2, OMIM:268400
Fetal anomalies v3.145 STAMBP Arina Puzriakova Phenotypes for gene: STAMBP were changed from MICROCEPHALYÐCAPILLARY MALFORMATION (MIC-CAP) SYNDROME to Microcephaly-capillary malformation syndrome, OMIM:614261
Fetal anomalies v3.144 PIK3R2 Arina Puzriakova Phenotypes for gene: PIK3R2 were changed from MEGALENCEPHALY-POLYMICROGYRIA-POLYDACTYLY-HYDROCEPHALUS SYNDROME 1 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1, OMIM:603387
Fetal anomalies v3.143 ROBO1 Arina Puzriakova Publications for gene: ROBO1 were set to 28592524; 28485101; 30712880; 29194579; 35227688
Fetal anomalies v3.143 ROBO1 Arina Puzriakova Publications for gene: ROBO1 were set to 28592524; 28485101; 30712880
Fetal anomalies v3.142 ROBO1 Arina Puzriakova Added comment: Comment on mode of inheritance: Should be updated from 'monoallelic' to 'both mono- and biallelic' at the next GMS panel update.

Biallelic variants in the ROBO1 gene are associated with neurooculorenal syndrome (OMIM:620305). Clinical manifestations are generally highly variable and involve several organ systems. However, some cases do present in utero with renal agenesis and structural brain abnormalities (PMID: 29194579; 35227688) indicating that the phenotype is relevant to this panel.
Fetal anomalies v3.142 ROBO1 Arina Puzriakova Mode of inheritance for gene: ROBO1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.141 ROBO1 Arina Puzriakova Phenotypes for gene: ROBO1 were changed from tetralogy of Fallot and septal defects to Tetralogy of Fallot and septal defects; Neurooculorenal syndrome, OMIM:620305
Fetal anomalies v3.140 ROBO1 Arina Puzriakova Tag Q1_24_MOI tag was added to gene: ROBO1.
Fetal anomalies v3.140 SPATA5 Arina Puzriakova Phenotypes for gene: SPATA5 were changed from EPILEPSY, HEARING LOSS, AND MENTAL RETARDATION SYNDROME to Neurodevelopmental disorder with hearing loss, seizures, and brain abnormalities, OMIM:616577
Fetal anomalies v3.139 CCBE1 Arina Puzriakova Phenotypes for gene: CCBE1 were changed from HENNEKAM LYMPHANGIECTASIA-LYMPHEDEMA SYNDROME to Hennekam lymphangiectasia-lymphedema syndrome 1, OMIM:235510
Fetal anomalies v3.138 SMARCAL1 Arina Puzriakova Phenotypes for gene: SMARCAL1 were changed from SCHIMKE IMMUNOOSSEOUS DYSPLASIA to Schimke immunoosseous dysplasia, OMIM:242900
Fetal anomalies v3.137 NHEJ1 Arina Puzriakova Phenotypes for gene: NHEJ1 were changed from Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation 611291 to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, OMIM:611291
Fetal anomalies v3.136 EFNB1 Arina Puzriakova Phenotypes for gene: EFNB1 were changed from CRANIOFRONTONASAL SYNDROME to Craniofrontonasal dysplasia, OMIM:304110
Fetal anomalies v3.135 MSTO1 Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance should be changed to BIALLELIC, autosomal or pseudoautosomal.
Fetal anomalies v3.135 MSTO1 Sarah Leigh Mode of inheritance for gene: MSTO1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v3.134 MSTO1 Sarah Leigh Tag Q1_24_MOI tag was added to gene: MSTO1.
Fetal anomalies v3.134 MSTO1 Sarah Leigh Publications for gene: MSTO1 were set to 29339779; 28544275; 31604776; 31130378; 28554942
Fetal anomalies v3.133 MSTO1 Sarah Leigh reviewed gene: MSTO1: Rating: ; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.133 TUSC3 Arina Puzriakova Phenotypes for gene: TUSC3 were changed from MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 7 to Intellectual developmental disorder, autosomal recessive 7, OMIM:611093
Fetal anomalies v3.132 CC2D1A Arina Puzriakova Phenotypes for gene: CC2D1A were changed from MENTAL RETARDATION AUTOSOMAL RECESSIVE TYPE 3 to Intellectual developmental disorder, autosomal recessive 3, OMIM:608443
Fetal anomalies v3.131 ASPM Arina Puzriakova Phenotypes for gene: ASPM were changed from PRIMARY AUTOSOMAL RECESSIVE MICROCEPHALY to Microcephaly 5, primary, autosomal recessive, OMIM:608716
Fetal anomalies v3.130 PKLR Arina Puzriakova Phenotypes for gene: PKLR were changed from Pyruvate kinase deficiency 266200 to Pyruvate kinase deficiency, OMIM:266200
Fetal anomalies v3.129 MYLK Arina Puzriakova Phenotypes for gene: MYLK were changed from Megacystis Microcolon Intestinal Hypoperistalsis Syndrome; MMIH to Megacystis-microcolon-intestinal hypoperistalsis syndrome 1, OMIM:249210
Fetal anomalies v3.128 PRX Arina Puzriakova Phenotypes for gene: PRX were changed from Dejerine-Sottas disease, OMIM; 145900 to Dejerine-Sottas disease, OMIM:145900
Fetal anomalies v3.127 PRX Arina Puzriakova Phenotypes for gene: PRX were changed from Charcot-Marie-Tooth disease, type 4F 614895; Dejerine-Sottas disease 145900 to Dejerine-Sottas disease, OMIM; 145900
Fetal anomalies v3.126 PRX Arina Puzriakova Added comment: Comment on mode of inheritance: Updated from 'both mono- and biallelic' to 'biallelic' as only recessive cases have been reported in literature.

OMIM states AD/AR inheritance for Dejerine-Sottas disease as this can be caused by both heterozygous and homozygous variants in other genes (e.g. PMP22, EGR2) but seemingly not in PRX.
Fetal anomalies v3.126 PRX Arina Puzriakova Mode of inheritance for gene: PRX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.125 CNBP Sarah Leigh Tag currently-ngs-unreportable was removed from gene: CNBP.
Fetal anomalies v3.125 CNBP_CCTG Sarah Leigh Classified STR: CNBP_CCTG as Amber List (moderate evidence)
Fetal anomalies v3.125 CNBP_CCTG Sarah Leigh Str: cnbp_cctg has been classified as Amber List (Moderate Evidence).
Fetal anomalies v3.124 CNBP_CCTG Sarah Leigh Tag NGS Not Validated was removed from STR: CNBP_CCTG.
Tag Q1_24_promote_green tag was added to STR: CNBP_CCTG.
Fetal anomalies v3.124 CNBP_CCTG Sarah Leigh Deleted their comment
Fetal anomalies v3.124 CNBP_CCTG Sarah Leigh commented on STR: CNBP_CCTG: As STR: CNBP_CCTG has been reviewed and confirmed by the NHS Genomic Medicine Service, it can be rated as Green on this panel.
Fetal anomalies v3.124 CNBP_CCTG Sarah Leigh reviewed STR: CNBP_CCTG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v3.124 TRIT1 Eleanor Williams Phenotypes for gene: TRIT1 were changed from Combined oxidative phosphorylation deficiency 35, OMIM:617873 to Combined oxidative phosphorylation deficiency 35, OMIM:617873; combined oxidative phosphorylation deficiency 35, MONDO:0054742
Fetal anomalies v3.123 SLC12A6 Arina Puzriakova Phenotypes for gene: SLC12A6 were changed from AGENESIS OF THE CORPUS CALLOSUM WITH PERIPHERAL NEUROPATHY to Charcot-Marie-Tooth disease, axonal, type 2II, OMIM:620068; Agenesis of the corpus callosum with peripheral neuropathy, OMIM:218000
Fetal anomalies v3.122 MED12 Achchuthan Shanmugasundram Tag Q3_21_MOI was removed from gene: MED12.
Tag Q3_21_expert_review was removed from gene: MED12.
Fetal anomalies v3.122 KIDINS220 Achchuthan Shanmugasundram Tag Q2_21_rating was removed from gene: KIDINS220.
Tag Q2_21_expert_review was removed from gene: KIDINS220.
Tag Q2_21_MOI was removed from gene: KIDINS220.
Fetal anomalies v3.122 LIFR Achchuthan Shanmugasundram Tag Q2_22_MOI was removed from gene: LIFR.
Tag Q2_22_expert_review was removed from gene: LIFR.
Fetal anomalies v3.122 KMT2B Arina Puzriakova Phenotypes for gene: KMT2B were changed from Complex early-onset dystonia to Dystonia 28, childhood-onset, OMIM:617284; Complex early-onset dystonia
Fetal anomalies v3.121 NSMF Arina Puzriakova Mode of pathogenicity for gene: NSMF was changed from to Other
Fetal anomalies v3.120 NSMF Arina Puzriakova Phenotypes for gene: NSMF were changed from Hypogonadotropic hypogonadism 9 with or without anosmia 614838 to Hypogonadotropic hypogonadism 9 with or without anosmia, OMIM:614838
Fetal anomalies v3.119 SEC23B Arina Puzriakova Phenotypes for gene: SEC23B were changed from ANEMIA, DYSERYTHROPOIETIC CONGENITAL, TYPE II to Dyserythropoietic anemia, congenital, type II, OMIM:224100
Fetal anomalies v3.118 ESAM Achchuthan Shanmugasundram Phenotypes for gene: ESAM were changed from intracranial hemorrhage; cerebral anomalies to Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371
Fetal anomalies v3.117 ESAM Achchuthan Shanmugasundram Publications for gene: ESAM were set to PMID: 36996813
Fetal anomalies v3.116 ESAM Achchuthan Shanmugasundram Classified gene: ESAM as Amber List (moderate evidence)
Fetal anomalies v3.116 ESAM Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Julia Baptista, PMID:36996813 reported foetal intracranial hemorrhage in four foetuses from three unrelated families. Hence, there is sufficient evidence for this gene to be promoted to green rating in this panel in the next GMS review.
Fetal anomalies v3.116 ESAM Achchuthan Shanmugasundram Gene: esam has been classified as Amber List (Moderate Evidence).
Fetal anomalies v3.115 ESAM Achchuthan Shanmugasundram Tag Q4_23_expert_review tag was added to gene: ESAM.
Fetal anomalies v3.115 ESAM Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: ESAM.
Fetal anomalies v3.115 ESAM Achchuthan Shanmugasundram reviewed gene: ESAM: Rating: GREEN; Mode of pathogenicity: None; Publications: 36996813; Phenotypes: Neurodevelopmental disorder with intracranial hemorrhage, seizures, and spasticity, OMIM:620371; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.115 FAM111A Sarah Leigh Added comment: Comment on mode of inheritance: PMID: 34382758 reports an autosomal recessive case of Kenny-Caffey Syndrome Type 2. The proband had inherited FAM111A variants from his healthy parents (paternal heterozygous missense
variant c.976T>A (p.L326I) and maternal heterozygous
in-frame deletion variant c.1714_1716del (p.Ile572del,
rs779963813)).
Fetal anomalies v3.115 FAM111A Sarah Leigh Mode of inheritance for gene: FAM111A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.114 FAM111A Sarah Leigh Publications for gene: FAM111A were set to
Fetal anomalies v3.111 C1QBP Eleanor Williams commented on gene: C1QBP
Fetal anomalies v3.111 C1QBP Eleanor Williams Tag Q2_23_promote_green was removed from gene: C1QBP.
Tag Q2_23_NHS_review was removed from gene: C1QBP.
Fetal anomalies v3.111 CDX2 Eleanor Williams commented on gene: CDX2: Removed the Q2_23_promote_green tag as has now been promoted to green.
Fetal anomalies v3.111 CDX2 Eleanor Williams Tag Q2_23_promote_green was removed from gene: CDX2.
Fetal anomalies v3.111 TRIT1 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: TRIT1.
Fetal anomalies v3.111 NDUFAF8 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: NDUFAF8.
Fetal anomalies v3.111 SPATA5 Achchuthan Shanmugasundram commented on gene: SPATA5
Fetal anomalies v3.111 ROBO1 Arina Puzriakova Tag gene-checked was removed from gene: ROBO1.
Fetal anomalies v3.111 CDX2 Eleanor Williams Tag gene-checked tag was added to gene: CDX2.
Fetal anomalies v3.111 CDX2 Eleanor Williams commented on gene: CDX2
Fetal anomalies v3.111 ECHS1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: ECHS1.
Tag Q2_23_NHS_review was removed from gene: ECHS1.
Fetal anomalies v3.111 GATB Sarah Leigh Tag Q2_23_promote_green was removed from gene: GATB.
Tag Q2_23_NHS_review was removed from gene: GATB.
Fetal anomalies v3.111 IBA57 Sarah Leigh Tag Q2_23_promote_green was removed from gene: IBA57.
Tag Q2_23_NHS_review was removed from gene: IBA57.
Fetal anomalies v3.111 KIF21A Sarah Leigh Tag Q2_23_promote_green was removed from gene: KIF21A.
Tag Q2_23_NHS_review was removed from gene: KIF21A.
Fetal anomalies v3.111 MECOM Sarah Leigh Tag Q2_23_promote_green was removed from gene: MECOM.
Tag Q2_23_NHS_review was removed from gene: MECOM.
Fetal anomalies v3.111 MTFMT Sarah Leigh Tag Q2_23_promote_green was removed from gene: MTFMT.
Tag Q2_23_NHS_review was removed from gene: MTFMT.
Fetal anomalies v3.111 MYL9 Sarah Leigh Tag Q2_23_promote_green was removed from gene: MYL9.
Fetal anomalies v3.111 NDUFA6 Sarah Leigh Tag Q2_23_promote_green was removed from gene: NDUFA6.
Tag Q2_23_NHS_review was removed from gene: NDUFA6.
Fetal anomalies v3.111 NDUFAF8 Sarah Leigh Tag Q2_23_promote_green was removed from gene: NDUFAF8.
Tag Q2_23_NHS_review was removed from gene: NDUFAF8.
Fetal anomalies v3.111 NDUFB10 Sarah Leigh Tag Q2_23_promote_green was removed from gene: NDUFB10.
Tag Q2_23_NHS_review was removed from gene: NDUFB10.
Fetal anomalies v3.111 NDUFB3 Sarah Leigh Tag Q2_23_promote_green was removed from gene: NDUFB3.
Tag Q2_23_NHS_review was removed from gene: NDUFB3.
Fetal anomalies v3.111 NDUFS1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: NDUFS1.
Tag Q2_23_NHS_review was removed from gene: NDUFS1.
Fetal anomalies v3.111 PC Sarah Leigh Tag Q2_23_promote_green was removed from gene: PC.
Tag Q2_23_NHS_review was removed from gene: PC.
Fetal anomalies v3.111 PDHB Sarah Leigh Tag Q2_23_promote_green was removed from gene: PDHB.
Tag Q2_23_NHS_review was removed from gene: PDHB.
Fetal anomalies v3.111 PDHX Sarah Leigh Tag Q2_23_promote_green was removed from gene: PDHX.
Tag Q2_23_NHS_review was removed from gene: PDHX.
Fetal anomalies v3.111 PET100 Sarah Leigh Tag Q2_23_promote_green was removed from gene: PET100.
Tag Q2_23_NHS_review was removed from gene: PET100.
Fetal anomalies v3.111 PLXND1 Sarah Leigh Tag Q1_23_promote_green was removed from gene: PLXND1.
Fetal anomalies v3.111 PNPLA8 Sarah Leigh Tag Q2_23_promote_green was removed from gene: PNPLA8.
Tag Q2_23_NHS_review was removed from gene: PNPLA8.
Fetal anomalies v3.111 PRKACA Sarah Leigh Tag Q2_23_promote_green was removed from gene: PRKACA.
Fetal anomalies v3.111 PRKACB Sarah Leigh Tag Q2_23_promote_green was removed from gene: PRKACB.
Fetal anomalies v3.111 QRSL1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: QRSL1.
Tag Q2_23_NHS_review was removed from gene: QRSL1.
Fetal anomalies v3.111 RAB11A Sarah Leigh Tag Q2_23_promote_green was removed from gene: RAB11A.
Tag Q2_23_NHS_review was removed from gene: RAB11A.
Fetal anomalies v3.111 RMND1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: RMND1.
Tag Q2_23_NHS_review was removed from gene: RMND1.
Fetal anomalies v3.111 SCUBE3 Sarah Leigh Tag Q2_23_promote_green was removed from gene: SCUBE3.
Tag Q2_23_NHS_review was removed from gene: SCUBE3.
Fetal anomalies v3.111 SLC25A46 Sarah Leigh Tag Q2_23_promote_green was removed from gene: SLC25A46.
Tag Q2_23_NHS_review was removed from gene: SLC25A46.
Fetal anomalies v3.111 TK2 Sarah Leigh Tag Q2_23_promote_green was removed from gene: TK2.
Tag Q2_23_NHS_review was removed from gene: TK2.
Fetal anomalies v3.111 UQCRFS1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: UQCRFS1.
Tag Q2_23_NHS_review was removed from gene: UQCRFS1.
Fetal anomalies v3.111 WLS Sarah Leigh Tag Q2_23_promote_green was removed from gene: WLS.
Fetal anomalies v3.111 ZMYM2 Sarah Leigh Tag Q2_23_promote_green was removed from gene: ZMYM2.
Tag Q2_23_NHS_review was removed from gene: ZMYM2.
Fetal anomalies v3.111 EARS2 Sarah Leigh Tag Q2_23_promote_green was removed from gene: EARS2.
Tag Q2_23_NHS_review was removed from gene: EARS2.
Fetal anomalies v3.111 DNA2 Sarah Leigh Tag Q2_23_promote_green was removed from gene: DNA2.
Tag Q2_23_NHS_review was removed from gene: DNA2.
Fetal anomalies v3.111 DARS2 Sarah Leigh Tag Q2_23_promote_green was removed from gene: DARS2.
Tag Q2_23_NHS_review was removed from gene: DARS2.
Fetal anomalies v3.111 COQ7 Sarah Leigh Tag Q2_23_promote_green was removed from gene: COQ7.
Tag Q2_23_NHS_review was removed from gene: COQ7.
Fetal anomalies v3.111 CLCN4 Sarah Leigh Tag Q2_23_promote_green was removed from gene: CLCN4.
Tag Q2_23_NHS_review was removed from gene: CLCN4.
Fetal anomalies v3.111 CLCN4 Sarah Leigh changed review comment from: The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.; to: The rating of this gene has been updated to Green and the mode of inheritance set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) following NHS Genomic Medicine Service approval.
Fetal anomalies v3.111 C19orf70 Sarah Leigh Tag Q2_23_promote_green was removed from gene: C19orf70.
Tag Q2_23_NHS_review was removed from gene: C19orf70.
Fetal anomalies v3.111 ATP5O Sarah Leigh Tag Q2_23_promote_green was removed from gene: ATP5O.
Tag Q2_23_NHS_review was removed from gene: ATP5O.
Fetal anomalies v3.111 AGTR1 Sarah Leigh Tag Q2_23_promote_green was removed from gene: AGTR1.
Tag Q2_23_NHS_review was removed from gene: AGTR1.
Fetal anomalies v3.111 AARS2 Sarah Leigh Tag Q2_23_promote_green was removed from gene: AARS2.
Tag Q2_23_NHS_review was removed from gene: AARS2.
Fetal anomalies v3.111 ZMYM2 Sarah Leigh reviewed gene: ZMYM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.111 WLS Sarah Leigh reviewed gene: WLS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 UQCRFS1 Sarah Leigh reviewed gene: UQCRFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 TK2 Sarah Leigh reviewed gene: TK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 SLC25A46 Sarah Leigh reviewed gene: SLC25A46: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 SCUBE3 Sarah Leigh edited their review of gene: SCUBE3: 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 mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 RMND1 Sarah Leigh reviewed gene: RMND1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 RAB11A Sarah Leigh reviewed gene: RAB11A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.111 QRSL1 Sarah Leigh reviewed gene: QRSL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PRKACB Sarah Leigh reviewed gene: PRKACB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.111 PRKACA Sarah Leigh reviewed gene: PRKACA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v3.111 PNPLA8 Sarah Leigh reviewed gene: PNPLA8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PLXND1 Sarah Leigh reviewed gene: PLXND1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PET100 Sarah Leigh reviewed gene: PET100: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PDHX Sarah Leigh reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PDHB Sarah Leigh reviewed gene: PDHB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 PC Sarah Leigh reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 NDUFS1 Sarah Leigh reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 NDUFB3 Sarah Leigh reviewed gene: NDUFB3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 NDUFB10 Sarah Leigh reviewed gene: NDUFB10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 NDUFAF8 Sarah Leigh reviewed gene: NDUFAF8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 NDUFA6 Sarah Leigh reviewed gene: NDUFA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 MYL9 Sarah Leigh reviewed gene: MYL9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 MTFMT Sarah Leigh reviewed gene: MTFMT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 MECOM Sarah Leigh reviewed gene: MECOM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies v3.111 KIF21A Sarah Leigh reviewed gene: KIF21A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 KDM5C Sarah Leigh reviewed gene: KDM5C: Rating: ; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v3.111 IBA57 Sarah Leigh reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 GATB Sarah Leigh reviewed gene: GATB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 ECHS1 Sarah Leigh reviewed gene: ECHS1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 EARS2 Sarah Leigh reviewed gene: EARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 DNA2 Sarah Leigh reviewed gene: DNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 DARS2 Sarah Leigh reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 COQ7 Sarah Leigh reviewed gene: COQ7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 CLCN4 Sarah Leigh reviewed gene: CLCN4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v3.111 CDX2 Sarah Leigh reviewed gene: CDX2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v3.111 C1QBP Sarah Leigh reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 C19orf70 Sarah Leigh reviewed gene: C19orf70: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 ATP5O Sarah Leigh reviewed gene: ATP5O: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 AGTR1 Sarah Leigh reviewed gene: AGTR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.111 AARS2 Sarah Leigh reviewed gene: AARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.110 KDM5C Sarah Leigh Tag Q4_22_MOI was removed from gene: KDM5C.
Fetal anomalies v3.110 ZMYM2 Sarah Leigh Source Expert Review Green was added to ZMYM2.
Source NHS GMS was added to ZMYM2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 WLS Sarah Leigh Source Expert Review Green was added to WLS.
Source NHS GMS was added to WLS.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 UQCRFS1 Sarah Leigh Source Expert Review Green was added to UQCRFS1.
Source NHS GMS was added to UQCRFS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 TK2 Sarah Leigh Source Expert Review Green was added to TK2.
Source NHS GMS was added to TK2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 SLC25A46 Sarah Leigh Source Expert Review Green was added to SLC25A46.
Source NHS GMS was added to SLC25A46.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 SCUBE3 Sarah Leigh Source Expert Review Green was added to SCUBE3.
Source NHS GMS was added to SCUBE3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 RMND1 Sarah Leigh Source Expert Review Green was added to RMND1.
Source NHS GMS was added to RMND1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 RAB11A Sarah Leigh Source Expert Review Green was added to RAB11A.
Source NHS GMS was added to RAB11A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 QRSL1 Sarah Leigh Source Expert Review Green was added to QRSL1.
Source NHS GMS was added to QRSL1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PRKACB Sarah Leigh Source Expert Review Green was added to PRKACB.
Source NHS GMS was added to PRKACB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PRKACA Sarah Leigh Source Expert Review Green was added to PRKACA.
Source NHS GMS was added to PRKACA.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PNPLA8 Sarah Leigh Source Expert Review Green was added to PNPLA8.
Source NHS GMS was added to PNPLA8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PLXND1 Sarah Leigh Source Expert Review Green was added to PLXND1.
Source NHS GMS was added to PLXND1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PET100 Sarah Leigh Source Expert Review Green was added to PET100.
Source NHS GMS was added to PET100.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PDHX Sarah Leigh Source Expert Review Green was added to PDHX.
Source NHS GMS was added to PDHX.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PDHB Sarah Leigh Source Expert Review Green was added to PDHB.
Source NHS GMS was added to PDHB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 PC Sarah Leigh Source Expert Review Green was added to PC.
Source NHS GMS was added to PC.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 NDUFS1 Sarah Leigh Source Expert Review Green was added to NDUFS1.
Source NHS GMS was added to NDUFS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 NDUFB3 Sarah Leigh Source Expert Review Green was added to NDUFB3.
Source NHS GMS was added to NDUFB3.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 NDUFB10 Sarah Leigh Source Expert Review Green was added to NDUFB10.
Source NHS GMS was added to NDUFB10.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 NDUFAF8 Sarah Leigh Source Expert Review Green was added to NDUFAF8.
Source NHS GMS was added to NDUFAF8.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 NDUFA6 Sarah Leigh Source Expert Review Green was added to NDUFA6.
Source NHS GMS was added to NDUFA6.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 MYL9 Sarah Leigh Source Expert Review Green was added to MYL9.
Source NHS GMS was added to MYL9.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 MTFMT Sarah Leigh Source Expert Review Green was added to MTFMT.
Source NHS GMS was added to MTFMT.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 MECOM Sarah Leigh Source Expert Review Green was added to MECOM.
Source NHS GMS was added to MECOM.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 KIF21A Sarah Leigh Source Expert Review Green was added to KIF21A.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 KDM5C Sarah Leigh Source NHS GMS was added to KDM5C.
Mode of inheritance for gene KDM5C was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Fetal anomalies v3.110 IBA57 Sarah Leigh Source Expert Review Green was added to IBA57.
Source NHS GMS was added to IBA57.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 GATB Sarah Leigh Source Expert Review Green was added to GATB.
Source NHS GMS was added to GATB.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 ECHS1 Sarah Leigh Source Expert Review Green was added to ECHS1.
Source NHS GMS was added to ECHS1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 EARS2 Sarah Leigh Source Expert Review Green was added to EARS2.
Source NHS GMS was added to EARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 DNA2 Sarah Leigh Source Expert Review Green was added to DNA2.
Source NHS GMS was added to DNA2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 DARS2 Sarah Leigh Source Expert Review Green was added to DARS2.
Source NHS GMS was added to DARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 COQ7 Sarah Leigh Source Expert Review Green was added to COQ7.
Source NHS GMS was added to COQ7.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 CLCN4 Sarah Leigh Source Expert Review Green was added to CLCN4.
Source NHS GMS was added to CLCN4.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 CDX2 Sarah Leigh Source Expert Review Green was added to CDX2.
Source NHS GMS was added to CDX2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 C1QBP Sarah Leigh Source Expert Review Green was added to C1QBP.
Source NHS GMS was added to C1QBP.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 C19orf70 Sarah Leigh Source Expert Review Green was added to C19orf70.
Source NHS GMS was added to C19orf70.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 ATP5O Sarah Leigh Source Expert Review Green was added to ATP5O.
Source NHS GMS was added to ATP5O.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 AGTR1 Sarah Leigh Source Expert Review Green was added to AGTR1.
Source NHS GMS was added to AGTR1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.110 AARS2 Sarah Leigh Source Expert Review Green was added to AARS2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v3.109 NRXN2 Dmitrijs Rots reviewed gene: NRXN2: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 36923655; Phenotypes: ASD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Fetal anomalies v3.109 SPATA5 Achchuthan Shanmugasundram Tag new-gene-name tag was added to gene: SPATA5.
Fetal anomalies v3.109 ESAM Julia Baptista gene: ESAM was added
gene: ESAM was added to Fetal anomalies. Sources: Literature
Mode of inheritance for gene: ESAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ESAM were set to PMID: 36996813
Phenotypes for gene: ESAM were set to intracranial hemorrhage; cerebral anomalies
Review for gene: ESAM was set to GREEN
Added comment: Four fetuses from three unrelated families (different LOF biallelic variants) with fetal intracranial hemorrhage. Fetal brain tissue from one of the affected individuals at 31 weeks' gestational age showed lack of ESAM staining in the capillary endothelial cells, thus confirming loss of ESAM. Another individual had an abnormal prenatal ultrasound and the pregnancy was terminated at 32 weeks' gestation, but no DNA was available to test for the familial variant.
Neurodevelopmental disorder with cerebral calcifications, hydrocephalus, focal white matter lesions, retina anomalies and dysmorphic features.
Sources: Literature
Fetal anomalies v3.109 TP63 Arina Puzriakova Phenotypes for gene: TP63 were changed from ECTODERMAL DYSPLASIA RAPP-HODGKIN TYPE; ECTRODACTYLY-ECTODERMAL DYSPLASIA-CLEFT LIP/PALATE SYNDROME TYPE 3; SPLIT-HAND/FOOT MALFORMATION TYPE 4; ANKYLOBLEPHARON-ECTODERMAL DEFECTS-CLEFT LIP/PALATE; LIMB-MAMMARY SYNDROME; NON-SYNDROMIC OROFACIAL CLEFT TYPE 8; ACRO-DERMATO-UNGUAL-LACRIMAL-TOOTH SYNDROME to ADULT syndrome, OMIM:103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM:604292; Hay-Wells syndrome, OMIM:106260; Limb-mammary syndrome, OMIM:603543; Orofacial cleft 8, OMIM:618149; Rapp-Hodgkin syndrome, OMIM:129400; Split-hand/foot malformation 4, OMIM:605289
Fetal anomalies v3.108 UQCRB Arina Puzriakova Phenotypes for gene: UQCRB were changed from MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX III DEFICIENCY, UQCRB-RELATED to Mitochondrial complex III deficiency, nuclear type 3, OMIM:615158
Fetal anomalies v3.107 PTCH1 Arina Puzriakova Phenotypes for gene: PTCH1 were changed from HOLOPROSENCEPHALY-7; BASAL CELL NEVUS SYNDROME to Holoprosencephaly 7, OMIM:610828
Fetal anomalies v3.106 SPTAN1 Sarah Leigh Phenotypes for gene: SPTAN1 were changed from EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 to Developmental and epileptic encephalopathy 5, OMIM:613477; developmental and epileptic encephalopathy, 5, MONDO:0013277
Fetal anomalies v3.105 SLC12A1 Sarah Leigh commented on gene: SLC12A1
Fetal anomalies v3.105 SLC12A1 Sarah Leigh Tag monogenic-polygenic tag was added to gene: SLC12A1.
Fetal anomalies v3.105 SLC12A1 Sarah Leigh Phenotypes for gene: SLC12A1 were changed from Bartter syndrome, type 1 601678 to Bartter syndrome, type 1, OMIM:601678; Bartter disease type 1, MONDO:0100344
Fetal anomalies v3.104 SLC12A1 Sarah Leigh Publications for gene: SLC12A1 were set to
Fetal anomalies v3.103 CLCNKB Sarah Leigh Tag monogenic-polygenic tag was added to gene: CLCNKB.
Fetal anomalies v3.103 CLCNKB Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for CLCNKB should be BIALLELIC, autosomal or pseudoautosomal. Although digenic CLCNKB & CLCNKA variants are associated with Bartter syndrome, type 4b, digenic (OMIM:613090), the current GMS rare disease bioinformatic pipeline does not allow for interpretation of digenic events.
Fetal anomalies v3.103 CLCNKB Sarah Leigh Mode of inheritance for gene: CLCNKB was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.102 AKT3 Arina Puzriakova Phenotypes for gene: AKT3 were changed from HEMIMEGALENCEPHALY AKT3 to Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2, OMIM:615937
Fetal anomalies v3.101 CLCNKB Sarah Leigh Phenotypes for gene: CLCNKB were changed from BARTTER SYNDROME TYPE 4B to Bartter syndrome, type 3, OMIM:607364; Bartter disease type 3, MONDO:0011822; Bartter syndrome, type 4b, digenic, OMIM:613090; Bartter disease type 4B, MONDO:0000909
Fetal anomalies v3.100 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v3.99 SLC22A5 Sarah Leigh changed review comment from: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).; to: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BIALLELIC, autosomal or pseudoautosomal. Although, heterozygous SLC22A5 variants have been seen in a few cases, these are detectable biochemically and are not associated with clear clinical presentation (PMID: 10545605; 11261427).
Fetal anomalies v3.99 RPS6KA3 Arina Puzriakova Phenotypes for gene: RPS6KA3 were changed from COFFIN-LOWRY SYNDROME to Coffin-Lowry syndrome, OMIM:303600
Fetal anomalies v3.98 ATP5O Sarah Leigh Phenotypes for gene: ATP5O were changed from Mitochondrial complex V (ATP synthase) deficiency to Mitochondrial complex V (ATP synthase) deficiency, nuclear type 7, OMIM:620359
Fetal anomalies v3.97 SLC25A24 Sarah Leigh Publications for gene: SLC25A24 were set to
Fetal anomalies v3.96 SLC25A24 Sarah Leigh Added comment: Comment on phenotypes: Gorlin-Chaudhry-Moss syndrome (GCMS);Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction
Fetal anomalies v3.96 SLC25A24 Sarah Leigh Phenotypes for gene: SLC25A24 were changed from Gorlin-Chaudhry-Moss syndrome (GCMS); Syndrome with Hypertrichosis, Progeroid Appearance, and Mitochondrial Dysfunction to Fontaine progeroid syndrome, OMIM; 612289; Fontaine progeroid syndrome, MONDO:0012853
Fetal anomalies v3.95 SLC22A5 Sarah Leigh Publications for gene: SLC22A5 were set to
Fetal anomalies v3.94 SLC22A5 Sarah Leigh Added comment: Comment on mode of inheritance: The mode of inheritance for SLC22A5 variants should be BOTH Monoallelic and Biallelic. Although, most of the evidence for symptoms associated SLC22A5 are seen in a patients with biallelic variants (HGNC:10969, OMIM:603377, Gen2Phen, Orphanet:118781, ClinGen), a few individuals heterozygous for SLC22A5 variants have been seen with a milder phenotype (PMID: 10545605; 11261427).
Fetal anomalies v3.94 SLC22A5 Sarah Leigh Mode of inheritance for gene: SLC22A5 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v3.93 SLC22A5 Sarah Leigh Phenotypes for gene: SLC22A5 were changed from SYSTEMIC PRIMARY CARNITINE DEFICIENCY to Carnitine deficiency, systemic primary, OMIM:212140; systemic primary carnitine deficiency disease, MONDO:0008919
Fetal anomalies v3.92 EN1 Eleanor Williams Tag watchlist tag was added to gene: EN1.
Fetal anomalies v3.92 EN1 Eleanor Williams commented on gene: EN1: This gene was copied from the Skeletal dysplasia panel to the Fetal anomalies panel. The Genomics England clinical team have agreed that Fetal anomalies is an appropriate panel for this gene and the rating should currently be amber.
Fetal anomalies v3.92 EN1 Eleanor Williams Entity copied from Skeletal dysplasia v4.10
Fetal anomalies v3.92 EN1 Eleanor Williams gene: EN1 was added
gene: EN1 was added to Fetal anomalies. Sources: Expert Review Amber,Literature
Mode of inheritance for gene: EN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EN1 were set to 33568816
Phenotypes for gene: EN1 were set to ENDOVE syndrome, limb-only type, MIM# 619217; ENDOVE syndrome, limb-brain type, MIM# 619218
Fetal anomalies v3.91 EPHB4 Arina Puzriakova Phenotypes for gene: EPHB4 were changed from hydrops fetalis gene to Lymphatic malformation 7, OMIM:617300; hydrops fetalis
Fetal anomalies v3.90 ACAN Arina Puzriakova commented on gene: ACAN
Fetal anomalies v3.90 ETFB Sarah Leigh Publications for gene: ETFB were set to
Fetal anomalies v3.89 ETFB Sarah Leigh Phenotypes for gene: ETFB were changed from GLUTARIC ACIDURIA TYPE 2B to Glutaric acidemia IIB, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Fetal anomalies v3.88 ETFA Sarah Leigh Phenotypes for gene: ETFA were changed from GLUTARIC ACIDURIA TYPE 2A to Glutaric acidemia IIA, OMIM:231680; multiple acyl-CoA dehydrogenase deficiency, MONDO:0009282
Fetal anomalies v3.87 COASY Sarah Leigh Publications for gene: COASY were set to
Fetal anomalies v3.86 PRKACB Arina Puzriakova Entity copied from Skeletal ciliopathies v3.6
Fetal anomalies v3.86 PRKACB Arina Puzriakova gene: PRKACB was added
gene: PRKACB was added to Fetal anomalies. Sources: Expert Review Amber,Literature
Q2_23_promote_green tags were added to gene: PRKACB.
Mode of inheritance for gene: PRKACB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRKACB were set to 33058759
Phenotypes for gene: PRKACB were set to Cardioacrofacial dysplasia 2, OMIM:619143
Penetrance for gene: PRKACB were set to unknown
Mode of pathogenicity for gene: PRKACB was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Fetal anomalies v3.85 PRKACA Arina Puzriakova Entity copied from Skeletal ciliopathies v3.6
Fetal anomalies v3.85 PRKACA Arina Puzriakova gene: PRKACA was added
gene: PRKACA was added to Fetal anomalies. Sources: Expert Review Amber,Literature
Q2_23_promote_green tags were added to gene: PRKACA.
Mode of inheritance for gene: PRKACA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PRKACA were set to 33058759; 31130284
Phenotypes for gene: PRKACA were set to Cardioacrofacial dysplasia 1, OMIM:619142
Fetal anomalies v3.84 CHUK Arina Puzriakova Phenotypes for gene: CHUK were changed from COCOON SYNDROME to Cocoon syndrome, OMIM:613630; Popliteal pterygium syndrome, Bartsocas-Papas type 2, OMIM:619339
Fetal anomalies v3.83 BLM Arina Puzriakova Phenotypes for gene: BLM were changed from BLOOM SYNDROME to Bloom syndrome, OMIM:210900
Fetal anomalies v3.82 GRIN2B Arina Puzriakova Publications for gene: GRIN2B were set to
Fetal anomalies v3.81 GRIN2B Arina Puzriakova Phenotypes for gene: GRIN2B were changed from AUTISM; EPILEPTIC ENCEPHALOPATHY; MENTAL RETARDATION, AUTOSOMAL DOMINANT 6 to Intellectual developmental disorder, autosomal dominant 6, with or without seizures, OMIM:613970; Developmental and epileptic encephalopathy 27, OMIM:616139
Fetal anomalies v3.80 SCUBE3 Arina Puzriakova Classified gene: SCUBE3 as Amber List (moderate evidence)
Fetal anomalies v3.80 SCUBE3 Arina Puzriakova Added comment: Comment on list classification: Confirmed with Stephanie Allen that the GMS Fetal expert group determined there is sufficient evidence to classify this gene as Green (9th May 2023).
Fetal anomalies v3.80 SCUBE3 Arina Puzriakova Gene: scube3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v3.79 SCUBE3 Arina Puzriakova Tag to_be_confirmed_NHSE was removed from gene: SCUBE3.
Tag Q3_22_rating was removed from gene: SCUBE3.
Tag Q3_22_expert_review was removed from gene: SCUBE3.
Fetal anomalies v3.79 RAB11A Arina Puzriakova Classified gene: RAB11A as Amber List (moderate evidence)
Fetal anomalies v3.79 RAB11A Arina Puzriakova Added comment: Comment on list classification: Confirmed with Stephanie Allen that the GMS Fetal expert group determined there is sufficient evidence to classify this gene as Green (9th May 2023).
Fetal anomalies v3.79 RAB11A Arina Puzriakova Gene: rab11a has been classified as Amber List (Moderate Evidence).
Fetal anomalies v3.78 RAB11A Arina Puzriakova Tag to_be_confirmed_NHSE was removed from gene: RAB11A.
Tag Q3_22_rating was removed from gene: RAB11A.
Tag Q3_22_expert_review was removed from gene: RAB11A.
Fetal anomalies v3.78 MRPS14 Arina Puzriakova commented on gene: MRPS14
Fetal anomalies v3.78 GATB Arina Puzriakova changed review comment from: Confirmed with Stephanie Allen that there is sufficient evidence to classify this gene as Green. Additional comments: "One family with two affected compound heterozygotes reported; however, GATB, GATC & QRSL1 function together and this is supported by functional work, therefore classified as green when combining cases across the 3 genes."; to: Confirmed with Stephanie Allen that there is sufficient evidence to classify this gene as Green (9th May 2023). Additional comments: "One family with two affected compound heterozygotes reported; however, GATB, GATC & QRSL1 function together and this is supported by functional work, therefore classified as green when combining cases across the 3 genes."
Fetal anomalies v3.78 MRPS14 Arina Puzriakova Tag to_be_confirmed_NHSE was removed from gene: MRPS14.
Tag Q2_23_promote_green was removed from gene: MRPS14.
Tag Q2_23_NHS_review was removed from gene: MRPS14.
Fetal anomalies v3.78 GATB Arina Puzriakova commented on gene: GATB
Fetal anomalies v3.78 GATB Arina Puzriakova Tag to_be_confirmed_NHSE was removed from gene: GATB.
Fetal anomalies v3.78 WNT9B Arina Puzriakova Classified gene: WNT9B as Amber List (moderate evidence)
Fetal anomalies v3.78 WNT9B Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). Not yet associated with any phenotype in OMIM or G2P. Rating Amber as to date, only two cases have been reported in one paper but with a watchlist tag to monitor for additional cases.
Fetal anomalies v3.78 WNT9B Arina Puzriakova Gene: wnt9b has been classified as Amber List (Moderate Evidence).
Fetal anomalies v3.77 WNT9B Arina Puzriakova Tag watchlist tag was added to gene: WNT9B.
Fetal anomalies v3.77 WLS Arina Puzriakova Classified gene: WLS as Amber List (moderate evidence)
Fetal anomalies v3.77 WLS Arina Puzriakova Added comment: Comment on list classification: There are sufficient unrelated cases with different homozygous variants in this gene and a consistent phenotype to support a gene-disease association. Some features such as microcephaly and digit malformations may plausibly be detected prenatally and therefore suggesting this gene is rated Green at the next GMS panel update.
Fetal anomalies v3.77 WLS Arina Puzriakova Gene: wls has been classified as Amber List (Moderate Evidence).
Fetal anomalies v3.76 WLS Arina Puzriakova Phenotypes for gene: WLS were changed from structural congenital anomalies to Zaki syndrome, OMIM:619648
Fetal anomalies v3.75 WLS Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: WLS.
Fetal anomalies v3.75 MYL9 Arina Puzriakova Classified gene: MYL9 as Amber List (moderate evidence)
Fetal anomalies v3.75 MYL9 Arina Puzriakova Added comment: Comment on list classification: There is now sufficient evidence to rate this gene as Green at the next GMS panel update.
Fetal anomalies v3.75 MYL9 Arina Puzriakova Gene: myl9 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v3.74 MYL9 Arina Puzriakova Publications for gene: MYL9 were set to 29453416; 33031641
Fetal anomalies v3.73 MYL9 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: MYL9.
Fetal anomalies v3.73 MYL9 Arina Puzriakova commented on gene: MYL9: Third family reported by Billon et al. 2020 (PMID: 32621347) with the same homozygous exon 4 deletion of MYL9 as the one detected by Moreno et al. 2018 (PMID: 29453416) in an unrelated case. Family includes three sibs affected with megacystis, intestinal malrotation, small and thin colon, as well as some dysmorphic features. Fetopathological examination confirmed the diagnosis of MMIHS.
Fetal anomalies v3.73 MYL9 Arina Puzriakova Phenotypes for gene: MYL9 were changed from Megacystis Microcolon Intestinal Hypoperistalsis Syndrome (MMIH) to Megacystis-microcolon-intestinal hypoperistalsis syndrome 4, OMIM:619365
Fetal anomalies v3.72 SCUBE3 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: SCUBE3.
Tag Q2_23_NHS_review tag was added to gene: SCUBE3.
Fetal anomalies v3.72 RAB11A Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: RAB11A.
Tag Q2_23_NHS_review tag was added to gene: RAB11A.
Fetal anomalies v3.72 ZMYM2 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: ZMYM2.
Tag Q2_23_NHS_review tag was added to gene: ZMYM2.
Fetal anomalies v3.72 LRIG2 Arina Puzriakova Phenotypes for gene: LRIG2 were changed from UROFACIAL SYNDROME; Urofacial syndrome 2, OMIM:615112 to Urofacial syndrome 2, OMIM:615112
Fetal anomalies v3.71 AGTR1 Arina Puzriakova Publications for gene: AGTR1 were set to
Fetal anomalies v3.70 AGTR1 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: AGTR1.
Tag Q2_23_NHS_review tag was added to gene: AGTR1.
Fetal anomalies v3.70 CLCN4 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: CLCN4.
Tag Q2_23_NHS_review tag was added to gene: CLCN4.
Fetal anomalies v3.70 MECOM Arina Puzriakova Phenotypes for gene: MECOM were changed from Radioulnar Synostosis with Amegakaryocytic Thrombocytopenia; Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738 to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, OMIM:616738
Fetal anomalies v3.69 MECOM Arina Puzriakova Publications for gene: MECOM were set to
Fetal anomalies v3.68 MECOM Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: MECOM.
Tag Q2_23_NHS_review tag was added to gene: MECOM.
Fetal anomalies v3.68 WARS2 Arina Puzriakova Publications for gene: WARS2 were set to
Fetal anomalies v3.67 VARS2 Arina Puzriakova Publications for gene: VARS2 were set to
Fetal anomalies v3.66 UQCRFS1 Arina Puzriakova Publications for gene: UQCRFS1 were set to
Fetal anomalies v3.65 UQCRFS1 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: UQCRFS1.
Tag Q2_23_NHS_review tag was added to gene: UQCRFS1.
Fetal anomalies v3.65 UQCC2 Arina Puzriakova Publications for gene: UQCC2 were set to
Fetal anomalies v3.64 TXN2 Arina Puzriakova Publications for gene: TXN2 were set to
Fetal anomalies v3.63 TRMU Arina Puzriakova Publications for gene: TRMU were set to
Fetal anomalies v3.62 TRIT1 Arina Puzriakova Publications for gene: TRIT1 were set to
Fetal anomalies v3.61 TMEM65 Arina Puzriakova Publications for gene: TMEM65 were set to
Fetal anomalies v3.60 TK2 Arina Puzriakova Tag watchlist was removed from gene: TK2.
Tag Q2_23_promote_green tag was added to gene: TK2.
Tag Q2_23_NHS_review tag was added to gene: TK2.
Fetal anomalies v3.60 SUCLA2 Arina Puzriakova Publications for gene: SUCLA2 were set to
Fetal anomalies v3.59 SLC25A46 Arina Puzriakova Publications for gene: SLC25A46 were set to
Fetal anomalies v3.58 SLC25A46 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: SLC25A46.
Tag Q2_23_NHS_review tag was added to gene: SLC25A46.
Fetal anomalies v3.58 SLC25A1 Arina Puzriakova Publications for gene: SLC25A1 were set to
Fetal anomalies v3.57 SFXN4 Arina Puzriakova Publications for gene: SFXN4 were set to
Fetal anomalies v3.56 SDHD Arina Puzriakova Publications for gene: SDHD were set to
Fetal anomalies v3.55 RMND1 Arina Puzriakova Phenotypes for gene: RMND1 were changed from ENCEPHALOPATHY ASSOCIATED WITH MULTIPLE OXIDATIVE PHOSPHORYLATION COMPLEX DEFICIENCIES AND A MITOCHONDRIAL TRANSLATION DEFECT; Combined oxidative phosphorylation deficiency 11, OMIM:614922 to Combined oxidative phosphorylation deficiency 11, OMIM:614922
Fetal anomalies v3.54 RMND1 Arina Puzriakova Publications for gene: RMND1 were set to
Fetal anomalies v3.53 RMND1 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: RMND1.
Tag Q2_23_NHS_review tag was added to gene: RMND1.
Fetal anomalies v3.53 QRSL1 Arina Puzriakova Publications for gene: QRSL1 were set to
Fetal anomalies v3.52 QRSL1 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: QRSL1.
Tag Q2_23_NHS_review tag was added to gene: QRSL1.
Fetal anomalies v3.52 POLG Arina Puzriakova Phenotypes for gene: POLG were changed from Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), OMIM:607459; Mitochondrial DNA depletion syndrome 4A (Alpers type), OMIM:203700; MITOCHONDRIAL DNA DEPLETION SYNDROME 4A; Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662 to Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE), OMIM:607459; Mitochondrial DNA depletion syndrome 4A (Alpers type), OMIM:203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type), OMIM:613662
Fetal anomalies v3.51 POLG Arina Puzriakova Publications for gene: POLG were set to
Fetal anomalies v3.50 PNPLA8 Arina Puzriakova Publications for gene: PNPLA8 were set to
Fetal anomalies v3.49 PNPLA8 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: PNPLA8.
Tag Q2_23_NHS_review tag was added to gene: PNPLA8.
Fetal anomalies v3.49 PET100 Arina Puzriakova Phenotypes for gene: PET100 were changed from MITOCHONDRIAL COMPLEX IV DEFICIENCY; Mitochondrial complex IV deficiency, nuclear type 12, OMIM:619055 to Mitochondrial complex IV deficiency, nuclear type 12, OMIM:619055
Fetal anomalies v3.48 PET100 Arina Puzriakova Publications for gene: PET100 were set to
Fetal anomalies v3.47 PET100 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: PET100.
Tag Q2_23_NHS_review tag was added to gene: PET100.
Fetal anomalies v3.47 PDHX Arina Puzriakova Phenotypes for gene: PDHX were changed from LACTICACIDEMIA DUE TO PDX1 DEFICIENCY; Lacticacidemia due to PDX1 deficiency, OMIM:245349 to Lacticacidemia due to PDX1 deficiency, OMIM:245349
Fetal anomalies v3.46 PDHX Arina Puzriakova Publications for gene: PDHX were set to
Fetal anomalies v3.45 PDHX Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: PDHX.
Tag Q2_23_NHS_review tag was added to gene: PDHX.
Fetal anomalies v3.45 PDHB Arina Puzriakova Phenotypes for gene: PDHB were changed from Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111; Pyruvate dehydrogenase E1-beta deficiency, 614111 to Pyruvate dehydrogenase E1-beta deficiency, OMIM:614111
Fetal anomalies v3.44 PDHB Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: PDHB.
Tag Q2_23_NHS_review tag was added to gene: PDHB.
Fetal anomalies v3.44 PC Arina Puzriakova Phenotypes for gene: PC were changed from Pyruvate carboxylase deficiency, OMIM:266150; PYRUVATE CARBOXYLASE DEFICIENCY to Pyruvate carboxylase deficiency, OMIM:266150
Fetal anomalies v3.43 PC Arina Puzriakova Publications for gene: PC were set to
Fetal anomalies v3.42 PC Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: PC.
Tag Q2_23_NHS_review tag was added to gene: PC.
Fetal anomalies v3.42 NDUFV2 Arina Puzriakova Publications for gene: NDUFV2 were set to
Fetal anomalies v3.41 NDUFS1 Arina Puzriakova Phenotypes for gene: NDUFS1 were changed from Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226; MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY; LEIGH SYNDROME to Mitochondrial complex I deficiency, nuclear type 5, OMIM:618226
Fetal anomalies v3.40 NDUFS1 Arina Puzriakova Publications for gene: NDUFS1 were set to
Fetal anomalies v3.39 NDUFS1 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: NDUFS1.
Tag Q2_23_NHS_review tag was added to gene: NDUFS1.
Fetal anomalies v3.39 NDUFC2 Arina Puzriakova Publications for gene: NDUFC2 were set to
Fetal anomalies v3.38 NDUFB7 Arina Puzriakova Publications for gene: NDUFB7 were set to
Fetal anomalies v3.37 NDUFB3 Arina Puzriakova Publications for gene: NDUFB3 were set to
Fetal anomalies v3.36 NDUFB3 Arina Puzriakova Tag Q2_23_promote_green tag was added to gene: NDUFB3.
Tag Q2_23_NHS_review tag was added to gene: NDUFB3.
Fetal anomalies v3.36 NDUFB11 Arina Puzriakova Phenotypes for gene: NDUFB11 were changed from Linear skin defects with multiple congenital anomalies 3, OMIM:300952; Cardiomyopathy; Agenesis of corpus callosum (ACC) to ?Mitochondrial complex I deficiency, nuclear type 30, OMIM:301021; Linear skin defects with multiple congenital anomalies 3, OMIM:300952; Cardiomyopathy; Agenesis of corpus callosum (ACC)