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Severe microcephaly v1.67 ISCA-37501-Loss Louise Daugherty Source NHS GMS was added to Region: ISCA-37501-Loss.
Severe microcephaly v1.66 ISCA-37425-Gain Louise Daugherty Haploinsufficiency Score for ISCA-37425-Gain was changed from to None.
Source NHS GMS was added to Region: ISCA-37425-Gain.
Severe microcephaly v1.65 ISCA-37408-Loss Louise Daugherty Triplosensitivity Score for ISCA-37408-Loss was changed from to None.
Source NHS GMS was added to Region: ISCA-37408-Loss.
Severe microcephaly v1.64 ISCA-37406-Loss Louise Daugherty Triplosensitivity Score for ISCA-37406-Loss was changed from to None.
Source NHS GMS was added to Region: ISCA-37406-Loss.
Severe microcephaly v1.63 ISCA-37390-Loss Louise Daugherty Triplosensitivity Score for ISCA-37390-Loss was changed from to None.
Source NHS GMS was added to Region: ISCA-37390-Loss.
Severe microcephaly v1.62 ISCA-37390-Loss Louise Daugherty reviewed Region: ISCA-37390-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Severe microcephaly v1.62 ISCA-37406-Loss Louise Daugherty reviewed Region: ISCA-37406-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Severe microcephaly v1.62 ISCA-37408-Loss Louise Daugherty reviewed Region: ISCA-37408-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Severe microcephaly v1.62 ISCA-37425-Gain Louise Daugherty reviewed Region: ISCA-37425-Gain: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Severe microcephaly v1.62 ISCA-37501-Loss Louise Daugherty commented on Region: ISCA-37501-Loss: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this region Green
Severe microcephaly v1.62 WDFY3 Louise Daugherty reviewed gene: WDFY3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 TUBGCP3 Louise Daugherty reviewed gene: TUBGCP3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 TRMT1 Louise Daugherty reviewed gene: TRMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 SASS6 Louise Daugherty reviewed gene: SASS6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 PPP1R15B Louise Daugherty reviewed gene: PPP1R15B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 PLAA Louise Daugherty reviewed gene: PLAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 PHC1 Louise Daugherty reviewed gene: PHC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 NSMCE2 Louise Daugherty reviewed gene: NSMCE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 NIN Louise Daugherty reviewed gene: NIN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 FANCM Louise Daugherty reviewed gene: FANCM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 ERCC5 Louise Daugherty reviewed gene: ERCC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 EOMES Louise Daugherty reviewed gene: EOMES: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 DNA2 Louise Daugherty reviewed gene: DNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CENPE Louise Daugherty reviewed gene: CENPE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CDK6 Louise Daugherty reviewed gene: CDK6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CDC6 Louise Daugherty reviewed gene: CDC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 ATRIP Louise Daugherty reviewed gene: ATRIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 ANKLE2 Louise Daugherty reviewed gene: ANKLE2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 AGMO Louise Daugherty reviewed gene: AGMO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 ZNF335 Louise Daugherty reviewed gene: ZNF335: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 WDR4 Louise Daugherty edited their review of gene: WDR4: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber; Changed rating: AMBER
Severe microcephaly v1.62 TAF13 Louise Daugherty reviewed gene: TAF13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 RMI1 Louise Daugherty reviewed gene: RMI1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 RAD51C Louise Daugherty reviewed gene: RAD51C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 QARS Louise Daugherty reviewed gene: QARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 MRE11 Louise Daugherty commented on gene: MRE11: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Severe microcephaly v1.62 CRIPT Louise Daugherty reviewed gene: CRIPT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 COASY Louise Daugherty commented on gene: COASY: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Amber
Severe microcephaly v1.62 ZEB2 Louise Daugherty reviewed gene: ZEB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 XRCC4 Louise Daugherty reviewed gene: XRCC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 WDR73 Louise Daugherty reviewed gene: WDR73: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 WDR62 Louise Daugherty reviewed gene: WDR62: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 TUBGCP6 Louise Daugherty reviewed gene: TUBGCP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 TUBGCP4 Louise Daugherty reviewed gene: TUBGCP4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 TRMT10A Louise Daugherty reviewed gene: TRMT10A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 TRAIP Louise Daugherty reviewed gene: TRAIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 TOP3A Louise Daugherty reviewed gene: TOP3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 STIL Louise Daugherty reviewed gene: STIL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 STAMBP Louise Daugherty reviewed gene: STAMBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 SMC3 Louise Daugherty reviewed gene: SMC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 SMC1A Louise Daugherty reviewed gene: SMC1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 SLX4 Louise Daugherty reviewed gene: SLX4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 SLC9A6 Louise Daugherty reviewed gene: SLC9A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 SLC25A19 Louise Daugherty reviewed gene: SLC25A19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 RTTN Louise Daugherty reviewed gene: RTTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 RPL10 Louise Daugherty reviewed gene: RPL10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 RNU4ATAC Louise Daugherty reviewed gene: RNU4ATAC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 RBBP8 Louise Daugherty reviewed gene: RBBP8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 RAD21 Louise Daugherty reviewed gene: RAD21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 PQBP1 Louise Daugherty reviewed gene: PQBP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 POC1A Louise Daugherty reviewed gene: POC1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 PNKP Louise Daugherty reviewed gene: PNKP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 PLK4 Louise Daugherty reviewed gene: PLK4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 PDHA1 Louise Daugherty reviewed gene: PDHA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 PCNT Louise Daugherty reviewed gene: PCNT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 PALB2 Louise Daugherty reviewed gene: PALB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 ORC6 Louise Daugherty reviewed gene: ORC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 ORC4 Louise Daugherty reviewed gene: ORC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 ORC1 Louise Daugherty reviewed gene: ORC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 NIPBL Louise Daugherty reviewed gene: NIPBL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 NHEJ1 Louise Daugherty reviewed gene: NHEJ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 NDE1 Louise Daugherty reviewed gene: NDE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 NBN Louise Daugherty reviewed gene: NBN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 MYCN Louise Daugherty reviewed gene: MYCN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 MSMO1 Louise Daugherty reviewed gene: MSMO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 MFSD2A Louise Daugherty reviewed gene: MFSD2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 MCPH1 Louise Daugherty reviewed gene: MCPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 LIG4 Louise Daugherty reviewed gene: LIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 LARP7 Louise Daugherty reviewed gene: LARP7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 KIF11 Louise Daugherty reviewed gene: KIF11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 IGF1R Louise Daugherty reviewed gene: IGF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 IGF1 Louise Daugherty reviewed gene: IGF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 IER3IP1 Louise Daugherty reviewed gene: IER3IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 IARS Louise Daugherty edited their review of gene: IARS: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: AMBER
Severe microcephaly v1.62 HDAC8 Louise Daugherty reviewed gene: HDAC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 GMNN Louise Daugherty reviewed gene: GMNN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 FANCL Louise Daugherty reviewed gene: FANCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 FANCI Louise Daugherty reviewed gene: FANCI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 FANCG Louise Daugherty reviewed gene: FANCG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 FANCF Louise Daugherty reviewed gene: FANCF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 FANCE Louise Daugherty reviewed gene: FANCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 FANCD2 Louise Daugherty reviewed gene: FANCD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 FANCC Louise Daugherty reviewed gene: FANCC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 FANCB Louise Daugherty reviewed gene: FANCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 FANCA Louise Daugherty reviewed gene: FANCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 ERCC8 Louise Daugherty reviewed gene: ERCC8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 ERCC6 Louise Daugherty reviewed gene: ERCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 ERCC4 Louise Daugherty reviewed gene: ERCC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 EFTUD2 Louise Daugherty reviewed gene: EFTUD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 DYRK1A Louise Daugherty reviewed gene: DYRK1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 DPP6 Louise Daugherty reviewed gene: DPP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 DONSON Louise Daugherty reviewed gene: DONSON: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 DIAPH1 Louise Daugherty reviewed gene: DIAPH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 DHCR7 Louise Daugherty reviewed gene: DHCR7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 DDX11 Louise Daugherty reviewed gene: DDX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CTNNB1 Louise Daugherty reviewed gene: CTNNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CREBBP Louise Daugherty reviewed gene: CREBBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CKAP2L Louise Daugherty reviewed gene: CKAP2L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CIT Louise Daugherty reviewed gene: CIT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CEP63 Louise Daugherty reviewed gene: CEP63: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CEP152 Louise Daugherty reviewed gene: CEP152: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CEP135 Louise Daugherty reviewed gene: CEP135: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CENPJ Louise Daugherty reviewed gene: CENPJ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CENPF Louise Daugherty reviewed gene: CENPF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CDT1 Louise Daugherty reviewed gene: CDT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CDK5RAP2 Louise Daugherty reviewed gene: CDK5RAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 CASK Louise Daugherty reviewed gene: CASK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 BRIP1 Louise Daugherty reviewed gene: BRIP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 BRCA2 Louise Daugherty reviewed gene: BRCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 BLM Louise Daugherty reviewed gene: BLM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 ATRX Louise Daugherty reviewed gene: ATRX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 ATR Louise Daugherty reviewed gene: ATR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 ASPM Louise Daugherty reviewed gene: ASPM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 PRUNE1 Louise Daugherty reviewed gene: PRUNE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 KNL1 Louise Daugherty reviewed gene: KNL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.62 KIF1BP Louise Daugherty reviewed gene: KIF1BP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Severe microcephaly v1.61 UFC1 Louise Daugherty Source NHS GMS was added to UFC1.
Severe microcephaly v1.61 ZNHIT3 Louise Daugherty Source NHS GMS was added to ZNHIT3.
Severe microcephaly v1.61 PCLO Louise Daugherty Source NHS GMS was added to PCLO.
Severe microcephaly v1.61 UFM1 Louise Daugherty Source NHS GMS was added to UFM1.
Severe microcephaly v1.61 UBA5 Louise Daugherty Source NHS GMS was added to UBA5.
Severe microcephaly v1.61 CCDC88A Louise Daugherty Source NHS GMS was added to CCDC88A.
Severe microcephaly v1.61 WDFY3 Louise Daugherty Source NHS GMS was added to WDFY3.
Severe microcephaly v1.61 TUBGCP3 Louise Daugherty Source NHS GMS was added to TUBGCP3.
Severe microcephaly v1.61 TRMT1 Louise Daugherty Source NHS GMS was added to TRMT1.
Severe microcephaly v1.61 SASS6 Louise Daugherty Source NHS GMS was added to SASS6.
Severe microcephaly v1.61 PPP1R15B Louise Daugherty Source NHS GMS was added to PPP1R15B.
Severe microcephaly v1.61 PLAA Louise Daugherty Source NHS GMS was added to PLAA.
Severe microcephaly v1.61 PHC1 Louise Daugherty Source NHS GMS was added to PHC1.
Severe microcephaly v1.61 NSMCE2 Louise Daugherty Source NHS GMS was added to NSMCE2.
Severe microcephaly v1.61 NIN Louise Daugherty Source NHS GMS was added to NIN.
Severe microcephaly v1.61 FANCM Louise Daugherty Source NHS GMS was added to FANCM.
Severe microcephaly v1.61 ERCC5 Louise Daugherty Source NHS GMS was added to ERCC5.
Severe microcephaly v1.61 EOMES Louise Daugherty Source NHS GMS was added to EOMES.
Severe microcephaly v1.61 DNA2 Louise Daugherty Source NHS GMS was added to DNA2.
Severe microcephaly v1.61 CENPE Louise Daugherty Source NHS GMS was added to CENPE.
Severe microcephaly v1.61 CDK6 Louise Daugherty Source NHS GMS was added to CDK6.
Severe microcephaly v1.61 CDC6 Louise Daugherty Source NHS GMS was added to CDC6.
Severe microcephaly v1.61 ATRIP Louise Daugherty Source NHS GMS was added to ATRIP.
Severe microcephaly v1.61 ANKLE2 Louise Daugherty Source NHS GMS was added to ANKLE2.
Severe microcephaly v1.61 AGMO Louise Daugherty Source NHS GMS was added to AGMO.
Severe microcephaly v1.61 ZNF335 Louise Daugherty Source NHS GMS was added to ZNF335.
Severe microcephaly v1.61 WDR4 Louise Daugherty Source NHS GMS was added to WDR4.
Severe microcephaly v1.61 TAF13 Louise Daugherty Source NHS GMS was added to TAF13.
Severe microcephaly v1.61 RMI1 Louise Daugherty Source NHS GMS was added to RMI1.
Severe microcephaly v1.61 RAD51C Louise Daugherty Source NHS GMS was added to RAD51C.
Severe microcephaly v1.61 QARS Louise Daugherty Source NHS GMS was added to QARS.
Severe microcephaly v1.61 MRE11 Louise Daugherty Source NHS GMS was added to MRE11.
Severe microcephaly v1.61 CRIPT Louise Daugherty Source NHS GMS was added to CRIPT.
Severe microcephaly v1.61 COASY Louise Daugherty Source NHS GMS was added to COASY.
Severe microcephaly v1.61 ZEB2 Louise Daugherty Source NHS GMS was added to ZEB2.
Severe microcephaly v1.61 XRCC4 Louise Daugherty Source NHS GMS was added to XRCC4.
Severe microcephaly v1.61 WDR73 Louise Daugherty Source NHS GMS was added to WDR73.
Severe microcephaly v1.61 WDR62 Louise Daugherty Source NHS GMS was added to WDR62.
Severe microcephaly v1.61 TUBGCP6 Louise Daugherty Source NHS GMS was added to TUBGCP6.
Severe microcephaly v1.61 TUBGCP4 Louise Daugherty Source NHS GMS was added to TUBGCP4.
Severe microcephaly v1.61 TRMT10A Louise Daugherty Source NHS GMS was added to TRMT10A.
Severe microcephaly v1.61 TRAIP Louise Daugherty Source NHS GMS was added to TRAIP.
Severe microcephaly v1.61 TOP3A Louise Daugherty Source NHS GMS was added to TOP3A.
Severe microcephaly v1.61 STIL Louise Daugherty Source NHS GMS was added to STIL.
Severe microcephaly v1.61 STAMBP Louise Daugherty Source NHS GMS was added to STAMBP.
Severe microcephaly v1.61 SMC3 Louise Daugherty Source NHS GMS was added to SMC3.
Severe microcephaly v1.61 SMC1A Louise Daugherty Source NHS GMS was added to SMC1A.
Severe microcephaly v1.61 SLX4 Louise Daugherty Source NHS GMS was added to SLX4.
Severe microcephaly v1.61 SLC9A6 Louise Daugherty Source NHS GMS was added to SLC9A6.
Severe microcephaly v1.61 SLC25A19 Louise Daugherty Source NHS GMS was added to SLC25A19.
Severe microcephaly v1.61 RTTN Louise Daugherty Source NHS GMS was added to RTTN.
Severe microcephaly v1.61 RPL10 Louise Daugherty Source NHS GMS was added to RPL10.
Severe microcephaly v1.61 RNU4ATAC Louise Daugherty Source NHS GMS was added to RNU4ATAC.
Severe microcephaly v1.61 RBBP8 Louise Daugherty Source NHS GMS was added to RBBP8.
Severe microcephaly v1.61 RAD21 Louise Daugherty Source NHS GMS was added to RAD21.
Severe microcephaly v1.61 PQBP1 Louise Daugherty Source NHS GMS was added to PQBP1.
Severe microcephaly v1.61 POC1A Louise Daugherty Source NHS GMS was added to POC1A.
Severe microcephaly v1.61 PNKP Louise Daugherty Source NHS GMS was added to PNKP.
Severe microcephaly v1.61 PLK4 Louise Daugherty Source NHS GMS was added to PLK4.
Severe microcephaly v1.61 PDHA1 Louise Daugherty Source NHS GMS was added to PDHA1.
Severe microcephaly v1.61 PCNT Louise Daugherty Source NHS GMS was added to PCNT.
Severe microcephaly v1.61 PALB2 Louise Daugherty Source NHS GMS was added to PALB2.
Severe microcephaly v1.61 ORC6 Louise Daugherty Source NHS GMS was added to ORC6.
Severe microcephaly v1.61 ORC4 Louise Daugherty Source NHS GMS was added to ORC4.
Severe microcephaly v1.61 ORC1 Louise Daugherty Source NHS GMS was added to ORC1.
Severe microcephaly v1.61 NIPBL Louise Daugherty Source NHS GMS was added to NIPBL.
Severe microcephaly v1.61 NHEJ1 Louise Daugherty Source NHS GMS was added to NHEJ1.
Severe microcephaly v1.61 NDE1 Louise Daugherty Source NHS GMS was added to NDE1.
Severe microcephaly v1.61 NBN Louise Daugherty Source NHS GMS was added to NBN.
Severe microcephaly v1.61 MYCN Louise Daugherty Source NHS GMS was added to MYCN.
Severe microcephaly v1.61 MSMO1 Louise Daugherty Source NHS GMS was added to MSMO1.
Severe microcephaly v1.61 MFSD2A Louise Daugherty Source NHS GMS was added to MFSD2A.
Severe microcephaly v1.61 MCPH1 Louise Daugherty Source NHS GMS was added to MCPH1.
Severe microcephaly v1.61 LIG4 Louise Daugherty Source NHS GMS was added to LIG4.
Severe microcephaly v1.61 LARP7 Louise Daugherty Source NHS GMS was added to LARP7.
Severe microcephaly v1.61 KIF11 Louise Daugherty Source NHS GMS was added to KIF11.
Severe microcephaly v1.61 IGF1R Louise Daugherty Source NHS GMS was added to IGF1R.
Severe microcephaly v1.61 IGF1 Louise Daugherty Source NHS GMS was added to IGF1.
Severe microcephaly v1.61 IER3IP1 Louise Daugherty Source NHS GMS was added to IER3IP1.
Severe microcephaly v1.61 IARS Louise Daugherty Source NHS GMS was added to IARS.
Severe microcephaly v1.61 HDAC8 Louise Daugherty Source NHS GMS was added to HDAC8.
Severe microcephaly v1.61 GMNN Louise Daugherty Source NHS GMS was added to GMNN.
Severe microcephaly v1.61 FANCL Louise Daugherty Source NHS GMS was added to FANCL.
Severe microcephaly v1.61 FANCI Louise Daugherty Source NHS GMS was added to FANCI.
Severe microcephaly v1.61 FANCG Louise Daugherty Source NHS GMS was added to FANCG.
Severe microcephaly v1.61 FANCF Louise Daugherty Source NHS GMS was added to FANCF.
Severe microcephaly v1.61 FANCE Louise Daugherty Source NHS GMS was added to FANCE.
Severe microcephaly v1.61 FANCD2 Louise Daugherty Source NHS GMS was added to FANCD2.
Severe microcephaly v1.61 FANCC Louise Daugherty Source NHS GMS was added to FANCC.
Severe microcephaly v1.61 FANCB Louise Daugherty Source NHS GMS was added to FANCB.
Severe microcephaly v1.61 FANCA Louise Daugherty Source NHS GMS was added to FANCA.
Severe microcephaly v1.61 ERCC8 Louise Daugherty Source NHS GMS was added to ERCC8.
Severe microcephaly v1.61 ERCC6 Louise Daugherty Source NHS GMS was added to ERCC6.
Severe microcephaly v1.61 ERCC4 Louise Daugherty Source NHS GMS was added to ERCC4.
Severe microcephaly v1.61 EFTUD2 Louise Daugherty Source NHS GMS was added to EFTUD2.
Severe microcephaly v1.61 DYRK1A Louise Daugherty Source NHS GMS was added to DYRK1A.
Severe microcephaly v1.61 DPP6 Louise Daugherty Source NHS GMS was added to DPP6.
Severe microcephaly v1.61 DONSON Louise Daugherty Source NHS GMS was added to DONSON.
Severe microcephaly v1.61 DIAPH1 Louise Daugherty Source NHS GMS was added to DIAPH1.
Severe microcephaly v1.61 DHCR7 Louise Daugherty Source NHS GMS was added to DHCR7.
Severe microcephaly v1.61 DDX11 Louise Daugherty Source NHS GMS was added to DDX11.
Severe microcephaly v1.61 CTNNB1 Louise Daugherty Source NHS GMS was added to CTNNB1.
Severe microcephaly v1.61 CREBBP Louise Daugherty Source NHS GMS was added to CREBBP.
Severe microcephaly v1.61 CKAP2L Louise Daugherty Source NHS GMS was added to CKAP2L.
Severe microcephaly v1.61 CIT Louise Daugherty Source NHS GMS was added to CIT.
Severe microcephaly v1.61 CEP63 Louise Daugherty Source NHS GMS was added to CEP63.
Severe microcephaly v1.61 CEP152 Louise Daugherty Source NHS GMS was added to CEP152.
Severe microcephaly v1.61 CEP135 Louise Daugherty Source NHS GMS was added to CEP135.
Severe microcephaly v1.61 CENPJ Louise Daugherty Source NHS GMS was added to CENPJ.
Severe microcephaly v1.61 CENPF Louise Daugherty Source NHS GMS was added to CENPF.
Severe microcephaly v1.61 CDT1 Louise Daugherty Source NHS GMS was added to CDT1.
Severe microcephaly v1.61 CDK5RAP2 Louise Daugherty Source NHS GMS was added to CDK5RAP2.
Severe microcephaly v1.61 CASK Louise Daugherty Source NHS GMS was added to CASK.
Severe microcephaly v1.61 BRIP1 Louise Daugherty Source NHS GMS was added to BRIP1.
Severe microcephaly v1.61 BRCA2 Louise Daugherty Source NHS GMS was added to BRCA2.
Severe microcephaly v1.61 BLM Louise Daugherty Source NHS GMS was added to BLM.
Severe microcephaly v1.61 ATRX Louise Daugherty Source NHS GMS was added to ATRX.
Severe microcephaly v1.61 ATR Louise Daugherty Source NHS GMS was added to ATR.
Severe microcephaly v1.61 ASPM Louise Daugherty Source NHS GMS was added to ASPM.
Severe microcephaly v1.61 PRUNE1 Louise Daugherty Source NHS GMS was added to PRUNE1.
Severe microcephaly v1.61 KNL1 Louise Daugherty Source NHS GMS was added to KNL1.
Severe microcephaly v1.61 KIF1BP Louise Daugherty Source NHS GMS was added to KIF1BP.
Severe microcephaly v1.60 UFC1 Louise Daugherty changed review comment from: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene recommended to be added to the panel by Astrid Weber during the call (Geoff Woods is one of the authors). it was suggested that Geoff Woods opinion on this gene would be helpful too, in view of the presence on his publication of the UFM1 gene. PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green
Sources: Expert list; to: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene recommended to be added to the panel by Astrid Weber during the call (Geoff Woods is one of the authors). It was suggested that Geoff Woods opinion on this gene would be helpful too, in view of the presence on his publication of the UFM1 gene. PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green
Sources: Expert list
Severe microcephaly v1.60 UFC1 Louise Daugherty edited their review of gene: UFC1: Changed rating: GREEN
Severe microcephaly v1.60 UFC1 Louise Daugherty gene: UFC1 was added
gene: UFC1 was added to Severe microcephaly. Sources: Expert list
Mode of inheritance for gene: UFC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UFC1 were set to Neurodevelopmental disorder with spasticity and poor growth, 618076; microcephaly
Review for gene: UFC1 was set to AMBER
Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene recommended to be added to the panel by Astrid Weber during the call (Geoff Woods is one of the authors). it was suggested that Geoff Woods opinion on this gene would be helpful too, in view of the presence on his publication of the UFM1 gene. PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green
Sources: Expert list
Severe microcephaly v1.59 ZNHIT3 Louise Daugherty gene: ZNHIT3 was added
gene: ZNHIT3 was added to Severe microcephaly. Sources: Expert list
Mode of inheritance for gene: ZNHIT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNHIT3 were set to PEHO syndrome, 260565; microcephaly
Review for gene: ZNHIT3 was set to GREEN
Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green
Sources: Expert list
Severe microcephaly v1.58 UBA5 Louise Daugherty changed review comment from: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green.
Sources: Expert list; to: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green.
Sources: Expert list
Severe microcephaly v1.58 PCLO Louise Daugherty gene: PCLO was added
gene: PCLO was added to Severe microcephaly. Sources: Expert list
Mode of inheritance for gene: PCLO was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PCLO were set to Pontocerebellar hypoplasia, type 3, 608027
Review for gene: PCLO was set to GREEN
Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green
Sources: Expert list
Severe microcephaly v1.57 UFM1 Louise Daugherty Classified gene: UFM1 as Green List (high evidence)
Severe microcephaly v1.57 UFM1 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and PMIDs as recommended during the call and in light of evidence as evidence to gene can be upgraded to Green
Severe microcephaly v1.57 UFM1 Louise Daugherty Gene: ufm1 has been classified as Green List (High Evidence).
Severe microcephaly v1.56 UFM1 Louise Daugherty Added comment: Comment on publications: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019 : added PMIDs as recommended to support rating of gene to be Green
Severe microcephaly v1.56 UFM1 Louise Daugherty Publications for gene: UFM1 were set to
Severe microcephaly v1.55 CCDC88A Louise Daugherty Phenotypes for gene: CCDC88A were changed from PEHO syndrome-like, 617507 to PEHO syndrome-like, 617507; microcephaly
Severe microcephaly v1.54 UFM1 Louise Daugherty Phenotypes for gene: UFM1 were changed from Leukodystrophy, hypomyelinating, 14, 617899 to Leukodystrophy, hypomyelinating, 14, 617899; microcephaly
Severe microcephaly v1.53 UFM1 Louise Daugherty gene: UFM1 was added
gene: UFM1 was added to Severe microcephaly. Sources: Expert list
Mode of inheritance for gene: UFM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UFM1 were set to Leukodystrophy, hypomyelinating, 14, 617899
Review for gene: UFM1 was set to GREEN
Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green.
Sources: Expert list
Severe microcephaly v1.52 UBA5 Louise Daugherty gene: UBA5 was added
gene: UBA5 was added to Severe microcephaly. Sources: Expert list
Mode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: UBA5 were set to Epileptic encephalopathy, early infantile, 44, 617132
Review for gene: UBA5 was set to GREEN
Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green.
Sources: Expert list
Severe microcephaly v1.51 CCDC88A Louise Daugherty gene: CCDC88A was added
gene: CCDC88A was added to Severe microcephaly. Sources: Expert list
Mode of inheritance for gene: CCDC88A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCDC88A were set to PEHO syndrome-like, 617507
Review for gene: CCDC88A was set to GREEN
Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp team added gene /phenotype and MOI from OMIM to panel and requested evidence for the proposed rating before gene can be upgraded to Green.
Sources: Expert list
Hydrocephalus v1.34 WDR81 Louise Daugherty reviewed gene: WDR81: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 TTR Louise Daugherty reviewed gene: TTR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 TMEM216 Louise Daugherty reviewed gene: TMEM216: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 TBX15 Louise Daugherty reviewed gene: TBX15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 RNASEH2A Louise Daugherty reviewed gene: RNASEH2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 OFD1 Louise Daugherty reviewed gene: OFD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 NRAS Louise Daugherty reviewed gene: NRAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 NOTCH2 Louise Daugherty reviewed gene: NOTCH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 NANS Louise Daugherty reviewed gene: NANS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 MMACHC Louise Daugherty reviewed gene: MMACHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 GMPPB Louise Daugherty reviewed gene: GMPPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 ASXL2 Louise Daugherty reviewed gene: ASXL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 WNT3 Louise Daugherty reviewed gene: WNT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 TBC1D7 Louise Daugherty reviewed gene: TBC1D7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 SEC24D Louise Daugherty reviewed gene: SEC24D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 PTCH2 Louise Daugherty reviewed gene: PTCH2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 P4HB Louise Daugherty reviewed gene: P4HB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 MTM1 Louise Daugherty reviewed gene: MTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 MPDZ Louise Daugherty reviewed gene: MPDZ: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 KIF7 Louise Daugherty reviewed gene: KIF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 ICK Louise Daugherty reviewed gene: ICK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 HDAC6 Louise Daugherty reviewed gene: HDAC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 FLNA Louise Daugherty reviewed gene: FLNA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 EBP Louise Daugherty reviewed gene: EBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 CLIC2 Louise Daugherty reviewed gene: CLIC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 B3GNT2 Louise Daugherty reviewed gene: B3GNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 ARX Louise Daugherty reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 ZIC3 Louise Daugherty reviewed gene: ZIC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 ZIC2 Louise Daugherty reviewed gene: ZIC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 ZBTB20 Louise Daugherty reviewed gene: ZBTB20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 USP9X Louise Daugherty reviewed gene: USP9X: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 TWIST1 Louise Daugherty reviewed gene: TWIST1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 TMEM5 Louise Daugherty edited their review of gene: TMEM5: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: AMBER
Hydrocephalus v1.34 TCF12 Louise Daugherty reviewed gene: TCF12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 SUMF1 Louise Daugherty reviewed gene: SUMF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 SUFU Louise Daugherty reviewed gene: SUFU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 STRADA Louise Daugherty edited their review of gene: STRADA: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: AMBER
Hydrocephalus v1.34 SNX10 Louise Daugherty reviewed gene: SNX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 SKI Louise Daugherty reviewed gene: SKI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 RPS6KA3 Louise Daugherty reviewed gene: RPS6KA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 RNF125 Louise Daugherty reviewed gene: RNF125: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 PTEN Louise Daugherty reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 PTCH1 Louise Daugherty reviewed gene: PTCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 PPP2R5D Louise Daugherty reviewed gene: PPP2R5D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 POMT2 Louise Daugherty reviewed gene: POMT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 POMT1 Louise Daugherty reviewed gene: POMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 POMK Louise Daugherty reviewed gene: POMK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 POMGNT2 Louise Daugherty reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 POMGNT1 Louise Daugherty reviewed gene: POMGNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 PLG Louise Daugherty reviewed gene: PLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 PIK3R2 Louise Daugherty reviewed gene: PIK3R2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 PIK3CA Louise Daugherty reviewed gene: PIK3CA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 OSTM1 Louise Daugherty reviewed gene: OSTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 NSD1 Louise Daugherty reviewed gene: NSD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 NF1 Louise Daugherty reviewed gene: NF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 MAN2B1 Louise Daugherty reviewed gene: MAN2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 LAMB1 Louise Daugherty reviewed gene: LAMB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 L1CAM Louise Daugherty reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 KIAA1109 Louise Daugherty reviewed gene: KIAA1109: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 KIAA0586 Louise Daugherty reviewed gene: KIAA0586: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 ISPD Louise Daugherty edited their review of gene: ISPD: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: AMBER
Hydrocephalus v1.34 IDS Louise Daugherty reviewed gene: IDS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 HYLS1 Louise Daugherty reviewed gene: HYLS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 GUSB Louise Daugherty reviewed gene: GUSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 GPSM2 Louise Daugherty reviewed gene: GPSM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 GLI3 Louise Daugherty reviewed gene: GLI3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 GFAP Louise Daugherty reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 FMR1 Louise Daugherty reviewed gene: FMR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 FLVCR2 Louise Daugherty reviewed gene: FLVCR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 FKTN Louise Daugherty reviewed gene: FKTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 FKRP Louise Daugherty reviewed gene: FKRP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 FGFR3 Louise Daugherty reviewed gene: FGFR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 FGFR2 Louise Daugherty reviewed gene: FGFR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 FGFR1 Louise Daugherty reviewed gene: FGFR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 FANCB Louise Daugherty reviewed gene: FANCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 FAM20C Louise Daugherty reviewed gene: FAM20C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 ERF Louise Daugherty reviewed gene: ERF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 EML1 Louise Daugherty edited their review of gene: EML1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: AMBER
Hydrocephalus v1.34 DHCR24 Louise Daugherty reviewed gene: DHCR24: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 DENND5A Louise Daugherty reviewed gene: DENND5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 DAG1 Louise Daugherty reviewed gene: DAG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 CRB2 Louise Daugherty reviewed gene: CRB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 COL4A1 Louise Daugherty reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 CEP83 Louise Daugherty reviewed gene: CEP83: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 CENPF Louise Daugherty reviewed gene: CENPF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 CCND2 Louise Daugherty reviewed gene: CCND2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 CCDC88C Louise Daugherty reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 CC2D2A Louise Daugherty reviewed gene: CC2D2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 BUB1B Louise Daugherty reviewed gene: BUB1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 B3GALNT2 Louise Daugherty reviewed gene: B3GALNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 ARSB Louise Daugherty reviewed gene: ARSB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 AP1S2 Louise Daugherty reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 AKT3 Louise Daugherty reviewed gene: AKT3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 WASHC5 Louise Daugherty reviewed gene: WASHC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 MYMK Louise Daugherty reviewed gene: MYMK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.34 LARGE1 Louise Daugherty edited their review of gene: LARGE1: Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green; Changed rating: AMBER
Hydrocephalus v1.34 B3GLCT Louise Daugherty reviewed gene: B3GLCT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hydrocephalus v1.33 EML1 Louise Daugherty Tag watchlist was removed from gene: EML1.
Hydrocephalus v1.33 EML1 Louise Daugherty commented on gene: EML1
Hydrocephalus v1.33 WDR81 Louise Daugherty Source NHS GMS was added to WDR81.
Hydrocephalus v1.33 TTR Louise Daugherty Source NHS GMS was added to TTR.
Hydrocephalus v1.33 TMEM216 Louise Daugherty Source NHS GMS was added to TMEM216.
Hydrocephalus v1.33 TBX15 Louise Daugherty Source NHS GMS was added to TBX15.
Hydrocephalus v1.33 RNASEH2A Louise Daugherty Source NHS GMS was added to RNASEH2A.
Hydrocephalus v1.33 OFD1 Louise Daugherty Source NHS GMS was added to OFD1.
Hydrocephalus v1.33 NRAS Louise Daugherty Source NHS GMS was added to NRAS.
Hydrocephalus v1.33 NOTCH2 Louise Daugherty Source NHS GMS was added to NOTCH2.
Hydrocephalus v1.33 NANS Louise Daugherty Source NHS GMS was added to NANS.
Hydrocephalus v1.33 MMACHC Louise Daugherty Source NHS GMS was added to MMACHC.
Hydrocephalus v1.33 GMPPB Louise Daugherty Source NHS GMS was added to GMPPB.
Hydrocephalus v1.33 ASXL2 Louise Daugherty Source NHS GMS was added to ASXL2.
Hydrocephalus v1.33 WNT3 Louise Daugherty Source NHS GMS was added to WNT3.
Hydrocephalus v1.33 TBC1D7 Louise Daugherty Source NHS GMS was added to TBC1D7.
Hydrocephalus v1.33 SEC24D Louise Daugherty Source NHS GMS was added to SEC24D.
Hydrocephalus v1.33 PTCH2 Louise Daugherty Source NHS GMS was added to PTCH2.
Hydrocephalus v1.33 P4HB Louise Daugherty Source NHS GMS was added to P4HB.
Hydrocephalus v1.33 MTM1 Louise Daugherty Source NHS GMS was added to MTM1.
Hydrocephalus v1.33 MPDZ Louise Daugherty Source NHS GMS was added to MPDZ.
Hydrocephalus v1.33 KIF7 Louise Daugherty Source NHS GMS was added to KIF7.
Hydrocephalus v1.33 ICK Louise Daugherty Source NHS GMS was added to ICK.
Hydrocephalus v1.33 HDAC6 Louise Daugherty Source NHS GMS was added to HDAC6.
Hydrocephalus v1.33 FLNA Louise Daugherty Source NHS GMS was added to FLNA.
Hydrocephalus v1.33 EBP Louise Daugherty Source NHS GMS was added to EBP.
Hydrocephalus v1.33 CLIC2 Louise Daugherty Source NHS GMS was added to CLIC2.
Hydrocephalus v1.33 B3GNT2 Louise Daugherty Source NHS GMS was added to B3GNT2.
Hydrocephalus v1.33 ARX Louise Daugherty Source NHS GMS was added to ARX.
Hydrocephalus v1.33 ZIC3 Louise Daugherty Source NHS GMS was added to ZIC3.
Hydrocephalus v1.33 ZIC2 Louise Daugherty Source NHS GMS was added to ZIC2.
Hydrocephalus v1.33 ZBTB20 Louise Daugherty Source NHS GMS was added to ZBTB20.
Hydrocephalus v1.33 USP9X Louise Daugherty Source NHS GMS was added to USP9X.
Hydrocephalus v1.33 TWIST1 Louise Daugherty Source NHS GMS was added to TWIST1.
Hydrocephalus v1.33 TMEM5 Louise Daugherty Source NHS GMS was added to TMEM5.
Hydrocephalus v1.33 TCF12 Louise Daugherty Source NHS GMS was added to TCF12.
Hydrocephalus v1.33 SUMF1 Louise Daugherty Source NHS GMS was added to SUMF1.
Hydrocephalus v1.33 SUFU Louise Daugherty Source NHS GMS was added to SUFU.
Hydrocephalus v1.33 STRADA Louise Daugherty Source NHS GMS was added to STRADA.
Hydrocephalus v1.33 SNX10 Louise Daugherty Source NHS GMS was added to SNX10.
Hydrocephalus v1.33 SKI Louise Daugherty Source NHS GMS was added to SKI.
Hydrocephalus v1.33 RPS6KA3 Louise Daugherty Source NHS GMS was added to RPS6KA3.
Hydrocephalus v1.33 RNF125 Louise Daugherty Source NHS GMS was added to RNF125.
Hydrocephalus v1.33 PTEN Louise Daugherty Source NHS GMS was added to PTEN.
Hydrocephalus v1.33 PTCH1 Louise Daugherty Source NHS GMS was added to PTCH1.
Hydrocephalus v1.33 PPP2R5D Louise Daugherty Source NHS GMS was added to PPP2R5D.
Hydrocephalus v1.33 POMT2 Louise Daugherty Source NHS GMS was added to POMT2.
Hydrocephalus v1.33 POMT1 Louise Daugherty Source NHS GMS was added to POMT1.
Hydrocephalus v1.33 POMK Louise Daugherty Source NHS GMS was added to POMK.
Hydrocephalus v1.33 POMGNT2 Louise Daugherty Source NHS GMS was added to POMGNT2.
Hydrocephalus v1.33 POMGNT1 Louise Daugherty Source NHS GMS was added to POMGNT1.
Hydrocephalus v1.33 PLG Louise Daugherty Source NHS GMS was added to PLG.
Hydrocephalus v1.33 PIK3R2 Louise Daugherty Source NHS GMS was added to PIK3R2.
Hydrocephalus v1.33 PIK3CA Louise Daugherty Source NHS GMS was added to PIK3CA.
Hydrocephalus v1.33 OSTM1 Louise Daugherty Source NHS GMS was added to OSTM1.
Hydrocephalus v1.33 NSD1 Louise Daugherty Source NHS GMS was added to NSD1.
Hydrocephalus v1.33 NF1 Louise Daugherty Source NHS GMS was added to NF1.
Hydrocephalus v1.33 MAN2B1 Louise Daugherty Source NHS GMS was added to MAN2B1.
Hydrocephalus v1.33 LAMB1 Louise Daugherty Source NHS GMS was added to LAMB1.
Hydrocephalus v1.33 L1CAM Louise Daugherty Source NHS GMS was added to L1CAM.
Hydrocephalus v1.33 KIAA1109 Louise Daugherty Source NHS GMS was added to KIAA1109.
Hydrocephalus v1.33 KIAA0586 Louise Daugherty Source NHS GMS was added to KIAA0586.
Hydrocephalus v1.33 ISPD Louise Daugherty Source NHS GMS was added to ISPD.
Hydrocephalus v1.33 IDS Louise Daugherty Source NHS GMS was added to IDS.
Hydrocephalus v1.33 HYLS1 Louise Daugherty Source NHS GMS was added to HYLS1.
Hydrocephalus v1.33 GUSB Louise Daugherty Source NHS GMS was added to GUSB.
Hydrocephalus v1.33 GPSM2 Louise Daugherty Source NHS GMS was added to GPSM2.
Hydrocephalus v1.33 GLI3 Louise Daugherty Source NHS GMS was added to GLI3.
Hydrocephalus v1.33 GFAP Louise Daugherty Source NHS GMS was added to GFAP.
Hydrocephalus v1.33 FMR1 Louise Daugherty Source NHS GMS was added to FMR1.
Hydrocephalus v1.33 FLVCR2 Louise Daugherty Source NHS GMS was added to FLVCR2.
Hydrocephalus v1.33 FKTN Louise Daugherty Source NHS GMS was added to FKTN.
Hydrocephalus v1.33 FKRP Louise Daugherty Source NHS GMS was added to FKRP.
Hydrocephalus v1.33 FGFR3 Louise Daugherty Source NHS GMS was added to FGFR3.
Hydrocephalus v1.33 FGFR2 Louise Daugherty Source NHS GMS was added to FGFR2.
Hydrocephalus v1.33 FGFR1 Louise Daugherty Source NHS GMS was added to FGFR1.
Hydrocephalus v1.33 FANCB Louise Daugherty Source NHS GMS was added to FANCB.
Hydrocephalus v1.33 FAM20C Louise Daugherty Source NHS GMS was added to FAM20C.
Hydrocephalus v1.33 ERF Louise Daugherty Source NHS GMS was added to ERF.
Hydrocephalus v1.33 EML1 Louise Daugherty Source NHS GMS was added to EML1.
Hydrocephalus v1.33 DHCR24 Louise Daugherty Source NHS GMS was added to DHCR24.
Hydrocephalus v1.33 DENND5A Louise Daugherty Source NHS GMS was added to DENND5A.
Hydrocephalus v1.33 DAG1 Louise Daugherty Source NHS GMS was added to DAG1.
Hydrocephalus v1.33 CRB2 Louise Daugherty Source NHS GMS was added to CRB2.
Hydrocephalus v1.33 COL4A1 Louise Daugherty Source NHS GMS was added to COL4A1.
Hydrocephalus v1.33 CEP83 Louise Daugherty Source NHS GMS was added to CEP83.
Hydrocephalus v1.33 CENPF Louise Daugherty Source NHS GMS was added to CENPF.
Hydrocephalus v1.33 CCND2 Louise Daugherty Source NHS GMS was added to CCND2.
Hydrocephalus v1.33 CCDC88C Louise Daugherty Source NHS GMS was added to CCDC88C.
Hydrocephalus v1.33 CC2D2A Louise Daugherty Source NHS GMS was added to CC2D2A.
Hydrocephalus v1.33 BUB1B Louise Daugherty Source NHS GMS was added to BUB1B.
Hydrocephalus v1.33 B3GALNT2 Louise Daugherty Source NHS GMS was added to B3GALNT2.
Hydrocephalus v1.33 ARSB Louise Daugherty Source NHS GMS was added to ARSB.
Hydrocephalus v1.33 AP1S2 Louise Daugherty Source NHS GMS was added to AP1S2.
Hydrocephalus v1.33 AKT3 Louise Daugherty Source NHS GMS was added to AKT3.
Hydrocephalus v1.33 WASHC5 Louise Daugherty Source NHS GMS was added to WASHC5.
Hydrocephalus v1.33 MYMK Louise Daugherty Source NHS GMS was added to MYMK.
Hydrocephalus v1.33 LARGE1 Louise Daugherty Source NHS GMS was added to LARGE1.
Hydrocephalus v1.33 B3GLCT Louise Daugherty Source NHS GMS was added to B3GLCT.
Intellectual disability v2.991 AP2M1 Catherine Snow Tag missense tag was added to gene: AP2M1.
Early onset or syndromic epilepsy v1.184 AP2M1 Catherine Snow Tag missense tag was added to gene: AP2M1.
Intellectual disability v2.991 CYP27A1 Catherine Snow Tag watchlist tag was added to gene: CYP27A1.
Intellectual disability v2.991 CYP27A1 Catherine Snow commented on gene: CYP27A1: Advice from clinical team "the phenotypic relevance is borderline. I would opt for amber in view of the small number of cases of school age, or earlier, intellectual impairment. This phenotype is the mainstay of this panel, but not clearly the common presentation for this disorder. Therefore I would prefer to opt to await further cases with a relevant phenotype before reviewing this".
CYP27A1 will therefore remain Amber on the panel and the watchlist tag been added.
Holoprosencephaly - NOT chromosomal v1.21 DHCR7 Louise Daugherty Source NHS GMS was added to DHCR7.
Holoprosencephaly - NOT chromosomal v1.21 SMAD2 Louise Daugherty Source NHS GMS was added to SMAD2.
Holoprosencephaly - NOT chromosomal v1.21 NODAL Louise Daugherty Source NHS GMS was added to NODAL.
Holoprosencephaly - NOT chromosomal v1.21 GCM2 Louise Daugherty Source NHS GMS was added to GCM2.
Holoprosencephaly - NOT chromosomal v1.21 FOXH1 Louise Daugherty Source NHS GMS was added to FOXH1.
Holoprosencephaly - NOT chromosomal v1.21 SUFU Louise Daugherty Source NHS GMS was added to SUFU.
Holoprosencephaly - NOT chromosomal v1.21 DLL1 Louise Daugherty Source NHS GMS was added to DLL1.
Holoprosencephaly - NOT chromosomal v1.21 CNOT1 Louise Daugherty Source NHS GMS was added to CNOT1.
Holoprosencephaly - NOT chromosomal v1.21 ZIC2 Louise Daugherty Source NHS GMS was added to ZIC2.
Holoprosencephaly - NOT chromosomal v1.21 TGIF1 Louise Daugherty Source NHS GMS was added to TGIF1.
Holoprosencephaly - NOT chromosomal v1.21 SIX3 Louise Daugherty Source NHS GMS was added to SIX3.
Holoprosencephaly - NOT chromosomal v1.21 SHH Louise Daugherty Source NHS GMS was added to SHH.
Holoprosencephaly - NOT chromosomal v1.21 PTCH1 Louise Daugherty Source NHS GMS was added to PTCH1.
Holoprosencephaly - NOT chromosomal v1.21 GLI2 Louise Daugherty Source NHS GMS was added to GLI2.
Holoprosencephaly - NOT chromosomal v1.21 FGFR1 Louise Daugherty Source NHS GMS was added to FGFR1.
Holoprosencephaly - NOT chromosomal v1.21 FGF8 Louise Daugherty Source NHS GMS was added to FGF8.
Holoprosencephaly - NOT chromosomal v1.21 DISP1 Louise Daugherty Source NHS GMS was added to DISP1.
Holoprosencephaly - NOT chromosomal v1.21 CDON Louise Daugherty Source NHS GMS was added to CDON.
Intellectual disability v2.991 PHF21A Catherine Snow Classified gene: PHF21A as Green List (high evidence)
Intellectual disability v2.991 PHF21A Catherine Snow Gene: phf21a has been classified as Green List (High Evidence).
Intellectual disability v2.990 PHF21A Catherine Snow changed review comment from: Potocki-Shaffer syndrome thought to caused by a deletion of 11p11.2, the minimum deleted region contains at least five genes, including PHF21A.
Hamanaka et al in PMID: 30487643 reported on three individuals who all underwent trio WES to have de novo, variants in PHF21A. All individuals had DD and ID although mild in one case.
PHF21A is not currently associated with any phenotypes in OMIM but is classed probable and associated with Disease: POTOCKI-SHAFFER SYNDROME in Gene2Phenotype.
Combined with the functional evidence and two expert reviews, there is now enough evidence for PHF21A to be classed as Green.; to: Potocki-Shaffer syndrome thought to caused by a deletion of 11p11.2, the minimum deleted region contains at least five genes, including PHF21A.
Hamanaka et al in PMID: 30487643 reported on three individuals who all underwent trio WES to have de novo, variants in PHF21A. All individuals had DD and ID although mild in one case. This is the first reporting of LOF variants solely in PHF21A.
PHF21A is not currently associated with any phenotypes in OMIM but is classed probable and associated with Disease: POTOCKI-SHAFFER SYNDROME in Gene2Phenotype.
Combined with the functional evidence and two expert reviews, there is now enough evidence for PHF21A to be classed as Green.
Intellectual disability v2.990 PHF21A Catherine Snow reviewed gene: PHF21A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Holoprosencephaly - NOT chromosomal v1.20 SMAD2 Louise Daugherty commented on gene: SMAD2
Holoprosencephaly - NOT chromosomal v1.20 NODAL Louise Daugherty commented on gene: NODAL
Holoprosencephaly - NOT chromosomal v1.20 GCM2 Louise Daugherty commented on gene: GCM2
Holoprosencephaly - NOT chromosomal v1.20 FOXH1 Louise Daugherty commented on gene: FOXH1
Holoprosencephaly - NOT chromosomal v1.20 CNOT1 Louise Daugherty commented on gene: CNOT1
Holoprosencephaly - NOT chromosomal v1.20 ZIC2 Louise Daugherty commented on gene: ZIC2
Holoprosencephaly - NOT chromosomal v1.20 TGIF1 Louise Daugherty commented on gene: TGIF1
Holoprosencephaly - NOT chromosomal v1.20 SIX3 Louise Daugherty commented on gene: SIX3: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Holoprosencephaly - NOT chromosomal v1.20 SIX3 Louise Daugherty commented on gene: SIX3
Holoprosencephaly - NOT chromosomal v1.20 SHH Louise Daugherty commented on gene: SHH
Holoprosencephaly - NOT chromosomal v1.20 PTCH1 Louise Daugherty commented on gene: PTCH1
Holoprosencephaly - NOT chromosomal v1.20 GLI2 Louise Daugherty commented on gene: GLI2
Holoprosencephaly - NOT chromosomal v1.20 FGFR1 Louise Daugherty commented on gene: FGFR1
Holoprosencephaly - NOT chromosomal v1.20 FGF8 Louise Daugherty commented on gene: FGF8
Holoprosencephaly - NOT chromosomal v1.20 DISP1 Louise Daugherty commented on gene: DISP1
Holoprosencephaly - NOT chromosomal v1.20 CDON Louise Daugherty commented on gene: CDON
Holoprosencephaly - NOT chromosomal v1.20 DHCR7 Louise Daugherty Classified gene: DHCR7 as Green List (high evidence)
Holoprosencephaly - NOT chromosomal v1.20 DHCR7 Louise Daugherty Gene: dhcr7 has been classified as Green List (High Evidence).
Holoprosencephaly - NOT chromosomal v1.20 DHCR7 Louise Daugherty Classified gene: DHCR7 as Green List (high evidence)
Holoprosencephaly - NOT chromosomal v1.20 DHCR7 Louise Daugherty Gene: dhcr7 has been classified as Green List (High Evidence).
Holoprosencephaly - NOT chromosomal v1.19 DHCR7 Louise Daugherty Added comment: Comment on publications: added OMIM phenotype and publications to support the rating of this gene to be Green
Holoprosencephaly - NOT chromosomal v1.19 DHCR7 Louise Daugherty Publications for gene: DHCR7 were set to 11562938; 28805615; 20104611; 17001700
Holoprosencephaly - NOT chromosomal v1.18 DHCR7 Louise Daugherty gene: DHCR7 was added
gene: DHCR7 was added to Holoprosencephaly. Sources: Expert list
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 11562938; 28805615; 20104611; 17001700
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, 270400; alobar holoprosencephaly (HPE)
Review for gene: DHCR7 was set to AMBER
Added comment: As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: New gene and Green rating recommended to be added to panel by Steve Abbs (Consultant Clinical Scientist, East Anglia Medical Genetics Service) on behalf of Geoff Woods (Cambridge Institute for Medical research). PanelApp curation team added phenotype/MOI and publications to support Green review
Sources: Expert list
Intellectual disability v2.990 GTF3C3 Catherine Snow Classified gene: GTF3C3 as Amber List (moderate evidence)
Intellectual disability v2.990 GTF3C3 Catherine Snow Gene: gtf3c3 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.989 GTF3C3 Catherine Snow reviewed gene: GTF3C3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Holoprosencephaly - NOT chromosomal v1.17 DLL1 Louise Daugherty reviewed gene: DLL1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Holoprosencephaly - NOT chromosomal v1.17 SUFU Louise Daugherty Tag watchlist tag was added to gene: SUFU.
Holoprosencephaly - NOT chromosomal v1.17 SUFU Louise Daugherty reviewed gene: SUFU: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Intellectual disability v2.989 PPP1R21 Catherine Snow Phenotypes for gene: PPP1R21 were changed from Hepatosplenomegaly; Abnormality of the respiratory system; Generalized hypotonia, Feeding difficulties, Profound global developmental delay, Abnormality of the face, Abnormality of vision, Abnormal heart morphology, Abnormality of the respiratory system to Hepatosplenomegaly; Abnormality of the respiratory system; Generalized hypotonia, Feeding difficulties, Profound global developmental delay, Abnormality of the face, Abnormality of vision, Abnormal heart morphology
Intellectual disability v2.988 PPP1R21 Catherine Snow Phenotypes for gene: PPP1R21 were changed from Hepatosplenomegaly; Abnormality of the respiratory system; Generalized hypotonia, Feeding difficulties, Profound global developmental delay, Abnormality of the face, Abnormality of vision, Abnormal heart morphology, Abnormality of the respiratory system, Hepatosplenomegaly; Profound global developmental delay; Abnormal heart morphology; Generalized hypotonia; Feeding difficulties; Abnormality of the face; Abnormality of vision to Hepatosplenomegaly; Abnormality of the respiratory system; Generalized hypotonia, Feeding difficulties, Profound global developmental delay, Abnormality of the face, Abnormality of vision, Abnormal heart morphology, Abnormality of the respiratory system
Holoprosencephaly - NOT chromosomal v1.17 SUFU Louise Daugherty Phenotypes for gene: SUFU were changed from 109400 to Basal cell nevus syndrome, 109400
Holoprosencephaly - NOT chromosomal v1.16 SUFU Louise Daugherty Publications for gene: SUFU were set to 27363716
Holoprosencephaly - NOT chromosomal v1.15 DLL1 Louise Daugherty Publications for gene: DLL1 were set to 27363716; 21196490
Intellectual disability v2.987 GTF3C3 Catherine Snow Tag watchlist tag was added to gene: GTF3C3.
Intellectual disability v2.987 GTF3C3 Catherine Snow Phenotypes for gene: GTF3C3 were changed from to Global developmental delay; Intellectual disability; Seizures
Intellectual disability v2.987 GTF3C3 Catherine Snow Publications for gene: GTF3C3 were set to 28940097, 28097321
Fetal anomalies v0.321 SETD5 Anna de Burca Classified gene: SETD5 as Green List (high evidence)
Fetal anomalies v0.321 SETD5 Anna de Burca Added comment: Comment on list classification: Promoted to Green based on July 19th review.
Fetal anomalies v0.321 SETD5 Anna de Burca Gene: setd5 has been classified as Green List (High Evidence).
Hypophosphataemia or rickets v2.0 Ivone Leong promoted panel to version 2.0
Intellectual disability v2.986 KMT2B Catherine Snow Publications for gene: KMT2B were set to 25529582; 27839873; 27992417; 29276005; 25405613; 29289525; 31216378
Albinism or congenital nystagmus v0.19 AHR Ivone Leong reviewed gene: AHR: Rating: AMBER; Mode of pathogenicity: None; Publications: 28851966, 31009037, 23301081; Phenotypes: Foveal hypoplasia without albinism, Infantile nystagmus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Albinism or congenital nystagmus v0.19 AHR Ivone Leong gene: AHR was added
gene: AHR was added to Albinism or congenital nystagmus. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: AHR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AHR were set to 28851966; 31009037; 23301081
Phenotypes for gene: AHR were set to ?Retinitis pigmentosa 85, 618345; Foveal hypoplasia without albinism; Infantile nystagmus
Intellectual disability v2.985 MTO1 Catherine Snow Publications for gene: MTO1 were set to
Intellectual disability v2.984 PHF21A Catherine Snow Publications for gene: PHF21A were set to 22770980; 26333423; 8456828; 8882796; 14872200; 9489802; 11017806; 11903336; 15852040; 23239541; 28127865
Intellectual disability v2.983 MTO1 Catherine Snow Classified gene: MTO1 as Green List (high evidence)
Intellectual disability v2.983 MTO1 Catherine Snow Gene: mto1 has been classified as Green List (High Evidence).
Intellectual disability v2.982 MTO1 Catherine Snow reviewed gene: MTO1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v1.97 GBA Arianna Tucci reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset dystonia, chorea or related movement disorder v0.90 ISCA-37468-Loss Louise Daugherty changed review comment from: Region rating (red) submitted by James Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment : suggested by Huw and Raquel.; to: Region rating (red) submitted by James Polke unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment : suggested by Huw and Raquel.
Hereditary ataxia with onset in adulthood v1.178 GALC Nick Beauchamp gene: GALC was added
gene: GALC was added to Hereditary ataxia - adult onset. Sources: Expert Review
Mode of inheritance for gene: GALC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GALC were set to 26915362, 20886637
Phenotypes for gene: GALC were set to KRABBE DISEASE, 245200
Review for gene: GALC was set to GREEN
gene: GALC was marked as current diagnostic
Added comment: Unusual presentation but 5 member kindred presenting with predominant cerebellar ataxia (26915362) and two patients with spastic ataxia reported by Tappino et al 2010 (20886637). Further case report with patient developing progressive ataxia (doi: 10.5455/ijmsph.2014.150320141)
Sources: Expert Review
Hereditary ataxia with onset in adulthood v1.178 PEX2 Nick Beauchamp gene: PEX2 was added
gene: PEX2 was added to Hereditary ataxia - adult onset. Sources: Expert Review
Mode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PEX2 were set to 23430938; 7931872; 21392394
Phenotypes for gene: PEX2 were set to PEROXISOME BIOGENESIS DISORDER 5B,614867
Review for gene: PEX2 was set to GREEN
gene: PEX2 was marked as current diagnostic
Added comment: Three patients with PEX2 mutations either compound het or homozygous. Mild symptoms that included no cognitive impairment but does show gait ataxia, dysarthria, dysmetria, areflexia, and bilateral pes cavus.
Sources: Expert Review
Intellectual disability v2.982 KMT2B Catherine Snow commented on gene: KMT2B
Intellectual disability v2.982 KMT2B Catherine Snow Publications for gene: KMT2B were set to 25529582; 27839873; 27992417; 29276005; 25405613; 29289525
Intellectual disability v2.981 ZBTB11 Catherine Snow Tag watchlist tag was added to gene: ZBTB11.
Intellectual disability v2.981 VPS11 Catherine Snow Tag watchlist tag was added to gene: VPS11.
Intellectual disability v2.981 TKT Catherine Snow Tag watchlist tag was added to gene: TKT.
Ataxia and cerebellar anomalies - narrow panel v1.4 CTBP1 Louise Daugherty changed review comment from: from review of gene on Intellectual disability (Version 2.981) panel, it was suggested by the Genomics England clinical team that the phenotype would also be suitable for the 'ataxia and cerebellar anomalies - narrow panel'

Comment on list classification: Gene added to panel and rated Green by Chris Buxton. Changed rating to Green after agreement from Genomics England clinical team- sufficient cases and relevant phenotype. Have added missense tag, because only one missense tag reported so far.
Rebecca Foulger (Genomics England curator), 25 Jul 2019

There are 12 individuals reported from 3 papers (2 papers from the same group). All 12 individuals have the same heterozygous missense variant (R331W in NM_001012614.1; R342W in NM_001328.2). It is a de novo variant in all cases except one where it's inherited from a somatic parent. The phenotype of all 12 is summarised in Table 1 of PMID:31041561. Global DD is a consistent feature (varying severity). ID is recorded in several patients. Developmental motor regression recorded in 4 patients (2 of which also had cognitive regression). Authors note that healthy individuals with heterozygous LOF alleles have been reported.
Rebecca Foulger (Genomics England curator), 25 Jul 2019

27094857 Beck 2016; 4 unrelated probands with denovo R342W missense with s syndromic disorder of developmental delay, intellectual disability, failure to thrive, hypotonia, ataxia, and tooth enamel defects. 31041561 Beck 2019: 7 additional unrelated probands with denovo R342W missense with a syndromic intellectual disability, ataxia, hypotonia, and tooth enamel defect disorder. Insilico modelling supports a conclusion of dysregulation of the normal apoptosis pathway via reduced chromatin/histone binding. Mechanism is proposed to be ?GoF via reduction of transcription repression.
Chris Buxton (North Bristol NHS Trust), 18 Jul 2019

12 individuals with a recurrent missense variant in CTBP1 have been reported, all summarized in the last article: - Beck et al. 2016 (PMID: 27094857) : 4 individuals - Sommerville et al. 2017 (PMID: 28955726) : 1 subject - Beck et al. 2019 (PMID: 31041561) : 7 further individuals Features included hypotonia, DD/ID, ataxia and tooth enamel defects. The degree of ID - when present - appeared to be highly variable based at least on the first two reports (3 individuals with severe ID, 1 with borderline-normal intellectual functioning, 1 did not exhibit ID) where this feature was further commented on. A recurrent missense variant was found in all 12 affected individuals [NM_001328.2:c.1024C>T - p.(Arg342Trp) or NM_001012614.1:c.991C>T - p.(Arg331Trp)]. De novo occurrence this SNV was shown for (almost) all individuals, although in one case maternal sequencing reads were compatible with low-level somatic mosaicism (4/75 reads) not detected by Sanger sequencing. The mother of this individual was phenotypically normal. The variant is absent from gnomAD. Several in silico predictions (SIFT, PolyPhen2, MutationTaster, etc) suggest a deleterious effect. Given recurrence of this specific variant, and presence of LoF ones in healthy individuals (pLI of 0.98 though in gnomAD) Beck et al. suggested a dominant negative or a gain-of-function effect rather than a loss of function mechanism. Exclusion of alternative causes: was mainly discussed for the subject reported by Sommerville et al., due to the primary suspicion of a mitochondrial disorder (sequencing and research for mtDNA rearrangements, additional analysis of nuclear genes for mitochondrial disorders). Expression: CTBP1 encodes C-terminal binding protein 1, with expression among others in brain and cerebellum (https://gtexportal.org/home/gene/CTBP1). Role and Functional studies: - The major nuclear isoform of CTBP1 (corresponding to NM_001328.2) and of its paralog CTBP2 function as transcriptional regulators (corepressors). The PLDLS(Pro-Leu-Asp-Leu-Ser)-binding cleft domain where this variant lies, acts as a high-affinity protein-binding interface to recruit DNA-binding repressors and chromatin modifying enzymes (PMID: 17967884). - In a human glioblastoma cell line interaction of various cofactors with (Flag-tagged) CTBP1 was studied by immunoprecitipation with the Flag antibody and subsequent proteomic (LC-MS) analysis. This demonstrated reduced interaction in the case of R342W (compared to wt) with Zn-finger transcription factors, histone deacetylases, histone methyltransferases, histone H3-K4 demethylase etc. Western blot analyses also revealed reduced interaction of the R342W with several CTBP cofactors. - RNA-seq analysis in glioblastoma cell line revealed similar overall transcriptional profiles between wt and R342W though multiple RNA species showed significant differences (eg. genes involved in the biological processes of mitotic nuclear division, DNA repair, transcription and regulation of transcription among those that were most upregulated and genes involved in brain development among the most downregulated). - Patient fibroblasts under conditions of glucose deprivation exhibited strikingly more cell death compared to control fibroblasts. Study of mRNA levels of pro-apoptotic genes by q-RT-PCR revealed that Noxa expression under glucose deprivation vs under normal glucose was 8 to 10-fold enhanced for control fibroblasts, but more than 30-fold enhanced in the case patient fibroblasts. Western blot analyses were also in line with this. - Mitochondrial dysfunction (probably secondary) with evidence of decreased complex I (and complex IV) activities in skeletal muscle was the case for 2 individuals among multiple patients who had muscle biopsies. Animal models: - Beck et al. discuss previously published mouse models where Ctbp1/2 both play overlapping transcriptional roles during development. Homozygous deletion of Ctbp2 is embryonically lethal (>E10.5). Homozygous deletion of Ctbp1 results in viable mice with reduced size and lifespan (Cited: Hildebrand et al. 2002 - PMID: 12101226) - As commented on by Sommerville et al., Ctbp1 knockout in mouse embryonic fibroblasts resulted in elongated mitochondria, abnormal mitochondrial cristae, diminished ATP and O2 consumption and mitochondrial membrane potential (Cited: Kim and Youn 2009 - PMID: 19136938). ---- CTBP1 is associated with Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (617915) in OMIM. It is not associated with any phenotype in G2P. Some diagnostic laboratories (eg. GeneDx participating in the first study and others) include this gene in panels for intellectual disability. ---- As a result, CTBP1 can be added in the current panel probably as green.
Konstantinos Varvagiannis (Other), 7 Jul 2019
Sources: Literature; to: from review of gene on Intellectual disability (Version 2.981) panel, it was suggested by the Genomics England clinical team that the phenotype would also be suitable for the 'ataxia and cerebellar anomalies - narrow panel'


Comment on list classification: Gene added to panel and rated Green by Chris Buxton. Changed rating to Green after agreement from Genomics England clinical team- sufficient cases and relevant phenotype. Have added missense tag, because only one missense tag reported so far.
Rebecca Foulger (Genomics England curator), 25 Jul 2019


There are 12 individuals reported from 3 papers (2 papers from the same group). All 12 individuals have the same heterozygous missense variant (R331W in NM_001012614.1; R342W in NM_001328.2). It is a de novo variant in all cases except one where it's inherited from a somatic parent. The phenotype of all 12 is summarised in Table 1 of PMID:31041561. Global DD is a consistent feature (varying severity). ID is recorded in several patients. Developmental motor regression recorded in 4 patients (2 of which also had cognitive regression). Authors note that healthy individuals with heterozygous LOF alleles have been reported.
Rebecca Foulger (Genomics England curator), 25 Jul 2019


27094857 Beck 2016; 4 unrelated probands with denovo R342W missense with s syndromic disorder of developmental delay, intellectual disability, failure to thrive, hypotonia, ataxia, and tooth enamel defects. 31041561 Beck 2019: 7 additional unrelated probands with denovo R342W missense with a syndromic intellectual disability, ataxia, hypotonia, and tooth enamel defect disorder. Insilico modelling supports a conclusion of dysregulation of the normal apoptosis pathway via reduced chromatin/histone binding. Mechanism is proposed to be ?GoF via reduction of transcription repression.
Chris Buxton (North Bristol NHS Trust), 18 Jul 2019


12 individuals with a recurrent missense variant in CTBP1 have been reported, all summarized in the last article: - Beck et al. 2016 (PMID: 27094857) : 4 individuals - Sommerville et al. 2017 (PMID: 28955726) : 1 subject - Beck et al. 2019 (PMID: 31041561) : 7 further individuals Features included hypotonia, DD/ID, ataxia and tooth enamel defects. The degree of ID - when present - appeared to be highly variable based at least on the first two reports (3 individuals with severe ID, 1 with borderline-normal intellectual functioning, 1 did not exhibit ID) where this feature was further commented on. A recurrent missense variant was found in all 12 affected individuals [NM_001328.2:c.1024C>T - p.(Arg342Trp) or NM_001012614.1:c.991C>T - p.(Arg331Trp)]. De novo occurrence this SNV was shown for (almost) all individuals, although in one case maternal sequencing reads were compatible with low-level somatic mosaicism (4/75 reads) not detected by Sanger sequencing. The mother of this individual was phenotypically normal. The variant is absent from gnomAD. Several in silico predictions (SIFT, PolyPhen2, MutationTaster, etc) suggest a deleterious effect. Given recurrence of this specific variant, and presence of LoF ones in healthy individuals (pLI of 0.98 though in gnomAD) Beck et al. suggested a dominant negative or a gain-of-function effect rather than a loss of function mechanism. Exclusion of alternative causes: was mainly discussed for the subject reported by Sommerville et al., due to the primary suspicion of a mitochondrial disorder (sequencing and research for mtDNA rearrangements, additional analysis of nuclear genes for mitochondrial disorders). Expression: CTBP1 encodes C-terminal binding protein 1, with expression among others in brain and cerebellum (https://gtexportal.org/home/gene/CTBP1). Role and Functional studies: - The major nuclear isoform of CTBP1 (corresponding to NM_001328.2) and of its paralog CTBP2 function as transcriptional regulators (corepressors). The PLDLS(Pro-Leu-Asp-Leu-Ser)-binding cleft domain where this variant lies, acts as a high-affinity protein-binding interface to recruit DNA-binding repressors and chromatin modifying enzymes (PMID: 17967884). - In a human glioblastoma cell line interaction of various cofactors with (Flag-tagged) CTBP1 was studied by immunoprecitipation with the Flag antibody and subsequent proteomic (LC-MS) analysis. This demonstrated reduced interaction in the case of R342W (compared to wt) with Zn-finger transcription factors, histone deacetylases, histone methyltransferases, histone H3-K4 demethylase etc. Western blot analyses also revealed reduced interaction of the R342W with several CTBP cofactors. - RNA-seq analysis in glioblastoma cell line revealed similar overall transcriptional profiles between wt and R342W though multiple RNA species showed significant differences (eg. genes involved in the biological processes of mitotic nuclear division, DNA repair, transcription and regulation of transcription among those that were most upregulated and genes involved in brain development among the most downregulated). - Patient fibroblasts under conditions of glucose deprivation exhibited strikingly more cell death compared to control fibroblasts. Study of mRNA levels of pro-apoptotic genes by q-RT-PCR revealed that Noxa expression under glucose deprivation vs under normal glucose was 8 to 10-fold enhanced for control fibroblasts, but more than 30-fold enhanced in the case patient fibroblasts. Western blot analyses were also in line with this. - Mitochondrial dysfunction (probably secondary) with evidence of decreased complex I (and complex IV) activities in skeletal muscle was the case for 2 individuals among multiple patients who had muscle biopsies. Animal models: - Beck et al. discuss previously published mouse models where Ctbp1/2 both play overlapping transcriptional roles during development. Homozygous deletion of Ctbp2 is embryonically lethal (>E10.5). Homozygous deletion of Ctbp1 results in viable mice with reduced size and lifespan (Cited: Hildebrand et al. 2002 - PMID: 12101226) - As commented on by Sommerville et al., Ctbp1 knockout in mouse embryonic fibroblasts resulted in elongated mitochondria, abnormal mitochondrial cristae, diminished ATP and O2 consumption and mitochondrial membrane potential (Cited: Kim and Youn 2009 - PMID: 19136938). ---- CTBP1 is associated with Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (617915) in OMIM. It is not associated with any phenotype in G2P. Some diagnostic laboratories (eg. GeneDx participating in the first study and others) include this gene in panels for intellectual disability. ---- As a result, CTBP1 can be added in the current panel probably as green.
Konstantinos Varvagiannis (Other), 7 Jul 2019
Sources: Literature
Intellectual disability v2.981 SUFU Catherine Snow Tag watchlist tag was added to gene: SUFU.
Intellectual disability v2.981 SRP54 Catherine Snow Tag watchlist tag was added to gene: SRP54.
Intellectual disability v2.981 SMG9 Catherine Snow Tag watchlist tag was added to gene: SMG9.
Ataxia and cerebellar anomalies - narrow panel v1.4 CTBP1 Louise Daugherty Classified gene: CTBP1 as Green List (high evidence)
Ataxia and cerebellar anomalies - narrow panel v1.4 CTBP1 Louise Daugherty Gene: ctbp1 has been classified as Green List (High Evidence).
Intellectual disability v2.981 SLC5A7 Catherine Snow Tag watchlist tag was added to gene: SLC5A7.
Ataxia and cerebellar anomalies - narrow panel v1.3 CTBP1 Louise Daugherty gene: CTBP1 was added
gene: CTBP1 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Literature
missense tags were added to gene: CTBP1.
Mode of inheritance for gene: CTBP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CTBP1 were set to 27094857; 28955726; 31041561
Phenotypes for gene: CTBP1 were set to Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915
Mode of pathogenicity for gene: CTBP1 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: CTBP1 was set to GREEN
Added comment: from review of gene on Intellectual disability (Version 2.981) panel, it was suggested by the Genomics England clinical team that the phenotype would also be suitable for the 'ataxia and cerebellar anomalies - narrow panel'

Comment on list classification: Gene added to panel and rated Green by Chris Buxton. Changed rating to Green after agreement from Genomics England clinical team- sufficient cases and relevant phenotype. Have added missense tag, because only one missense tag reported so far.
Rebecca Foulger (Genomics England curator), 25 Jul 2019

There are 12 individuals reported from 3 papers (2 papers from the same group). All 12 individuals have the same heterozygous missense variant (R331W in NM_001012614.1; R342W in NM_001328.2). It is a de novo variant in all cases except one where it's inherited from a somatic parent. The phenotype of all 12 is summarised in Table 1 of PMID:31041561. Global DD is a consistent feature (varying severity). ID is recorded in several patients. Developmental motor regression recorded in 4 patients (2 of which also had cognitive regression). Authors note that healthy individuals with heterozygous LOF alleles have been reported.
Rebecca Foulger (Genomics England curator), 25 Jul 2019

27094857 Beck 2016; 4 unrelated probands with denovo R342W missense with s syndromic disorder of developmental delay, intellectual disability, failure to thrive, hypotonia, ataxia, and tooth enamel defects. 31041561 Beck 2019: 7 additional unrelated probands with denovo R342W missense with a syndromic intellectual disability, ataxia, hypotonia, and tooth enamel defect disorder. Insilico modelling supports a conclusion of dysregulation of the normal apoptosis pathway via reduced chromatin/histone binding. Mechanism is proposed to be ?GoF via reduction of transcription repression.
Chris Buxton (North Bristol NHS Trust), 18 Jul 2019

12 individuals with a recurrent missense variant in CTBP1 have been reported, all summarized in the last article: - Beck et al. 2016 (PMID: 27094857) : 4 individuals - Sommerville et al. 2017 (PMID: 28955726) : 1 subject - Beck et al. 2019 (PMID: 31041561) : 7 further individuals Features included hypotonia, DD/ID, ataxia and tooth enamel defects. The degree of ID - when present - appeared to be highly variable based at least on the first two reports (3 individuals with severe ID, 1 with borderline-normal intellectual functioning, 1 did not exhibit ID) where this feature was further commented on. A recurrent missense variant was found in all 12 affected individuals [NM_001328.2:c.1024C>T - p.(Arg342Trp) or NM_001012614.1:c.991C>T - p.(Arg331Trp)]. De novo occurrence this SNV was shown for (almost) all individuals, although in one case maternal sequencing reads were compatible with low-level somatic mosaicism (4/75 reads) not detected by Sanger sequencing. The mother of this individual was phenotypically normal. The variant is absent from gnomAD. Several in silico predictions (SIFT, PolyPhen2, MutationTaster, etc) suggest a deleterious effect. Given recurrence of this specific variant, and presence of LoF ones in healthy individuals (pLI of 0.98 though in gnomAD) Beck et al. suggested a dominant negative or a gain-of-function effect rather than a loss of function mechanism. Exclusion of alternative causes: was mainly discussed for the subject reported by Sommerville et al., due to the primary suspicion of a mitochondrial disorder (sequencing and research for mtDNA rearrangements, additional analysis of nuclear genes for mitochondrial disorders). Expression: CTBP1 encodes C-terminal binding protein 1, with expression among others in brain and cerebellum (https://gtexportal.org/home/gene/CTBP1). Role and Functional studies: - The major nuclear isoform of CTBP1 (corresponding to NM_001328.2) and of its paralog CTBP2 function as transcriptional regulators (corepressors). The PLDLS(Pro-Leu-Asp-Leu-Ser)-binding cleft domain where this variant lies, acts as a high-affinity protein-binding interface to recruit DNA-binding repressors and chromatin modifying enzymes (PMID: 17967884). - In a human glioblastoma cell line interaction of various cofactors with (Flag-tagged) CTBP1 was studied by immunoprecitipation with the Flag antibody and subsequent proteomic (LC-MS) analysis. This demonstrated reduced interaction in the case of R342W (compared to wt) with Zn-finger transcription factors, histone deacetylases, histone methyltransferases, histone H3-K4 demethylase etc. Western blot analyses also revealed reduced interaction of the R342W with several CTBP cofactors. - RNA-seq analysis in glioblastoma cell line revealed similar overall transcriptional profiles between wt and R342W though multiple RNA species showed significant differences (eg. genes involved in the biological processes of mitotic nuclear division, DNA repair, transcription and regulation of transcription among those that were most upregulated and genes involved in brain development among the most downregulated). - Patient fibroblasts under conditions of glucose deprivation exhibited strikingly more cell death compared to control fibroblasts. Study of mRNA levels of pro-apoptotic genes by q-RT-PCR revealed that Noxa expression under glucose deprivation vs under normal glucose was 8 to 10-fold enhanced for control fibroblasts, but more than 30-fold enhanced in the case patient fibroblasts. Western blot analyses were also in line with this. - Mitochondrial dysfunction (probably secondary) with evidence of decreased complex I (and complex IV) activities in skeletal muscle was the case for 2 individuals among multiple patients who had muscle biopsies. Animal models: - Beck et al. discuss previously published mouse models where Ctbp1/2 both play overlapping transcriptional roles during development. Homozygous deletion of Ctbp2 is embryonically lethal (>E10.5). Homozygous deletion of Ctbp1 results in viable mice with reduced size and lifespan (Cited: Hildebrand et al. 2002 - PMID: 12101226) - As commented on by Sommerville et al., Ctbp1 knockout in mouse embryonic fibroblasts resulted in elongated mitochondria, abnormal mitochondrial cristae, diminished ATP and O2 consumption and mitochondrial membrane potential (Cited: Kim and Youn 2009 - PMID: 19136938). ---- CTBP1 is associated with Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome (617915) in OMIM. It is not associated with any phenotype in G2P. Some diagnostic laboratories (eg. GeneDx participating in the first study and others) include this gene in panels for intellectual disability. ---- As a result, CTBP1 can be added in the current panel probably as green.
Konstantinos Varvagiannis (Other), 7 Jul 2019
Sources: Literature
Intellectual disability v2.981 SCYL1 Catherine Snow Tag watchlist tag was added to gene: SCYL1.
Intellectual disability v2.981 RSPRY1 Catherine Snow Tag watchlist tag was added to gene: RSPRY1.
Intellectual disability v2.981 RNF13 Catherine Snow Tag watchlist tag was added to gene: RNF13.
Intellectual disability v2.981 RAB11A Catherine Snow Tag watchlist tag was added to gene: RAB11A.
Intellectual disability v2.981 PTRHD1 Catherine Snow Tag watchlist tag was added to gene: PTRHD1.
Intellectual disability v2.981 PTRH2 Catherine Snow Tag watchlist tag was added to gene: PTRH2.
Intellectual disability v2.981 PLEKHG2 Catherine Snow Tag watchlist tag was added to gene: PLEKHG2.
Intellectual disability v2.981 LSS Catherine Snow Tag watchlist tag was added to gene: LSS.
Intellectual disability v2.981 LIPT2 Catherine Snow Tag watchlist tag was added to gene: LIPT2.
Intellectual disability v2.981 GTF2E2 Catherine Snow Tag watchlist tag was added to gene: GTF2E2.
Intellectual disability v2.981 FUK Catherine Snow Tag watchlist tag was added to gene: FUK.
Intellectual disability v2.981 EMG1 Catherine Snow Tag watchlist tag was added to gene: EMG1.
Intellectual disability v2.981 DYNC1I2 Catherine Snow Tag watchlist tag was added to gene: DYNC1I2.
Intellectual disability v2.981 DONSON Catherine Snow Tag watchlist tag was added to gene: DONSON.
Intellectual disability v2.981 GMNN Catherine Snow Tag watchlist tag was added to gene: GMNN.
Intellectual disability v2.981 UFM1 Catherine Snow Tag de novo tag was added to gene: UFM1.
Cerebral malformation v2.49 Louise Daugherty Changed child panels to: Malformations of cortical development; Hydrocephalus; Holoprosencephaly; Segmental overgrowth disorders; Ataxia and cerebellar anomalies - narrow panel; Neurological ciliopathies
Early onset or syndromic epilepsy v1.184 DHCR7 Rebecca Foulger Publications for gene: DHCR7 were set to
Early onset or syndromic epilepsy v1.183 DHCR7 Rebecca Foulger Phenotypes for gene: DHCR7 were changed from Smith-Lemli-Opitz syndrome 270400 to Smith-Lemli-Opitz syndrome, 270400
Early onset or syndromic epilepsy v1.182 DHCR7 Rebecca Foulger Classified gene: DHCR7 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.182 DHCR7 Rebecca Foulger Added comment: Comment on list classification: Demoted rating from Green to Amber following agreement from Helen Brittain (Genomics England clinical team). DHCR7 is currently Green based on its association with Smith-Lemli-Opitz syndrome (SLOS). Seizures are uncommon (1/23 in PMID:24920862 and 1/3 in PMID:29226552). A 2002 paper (PMID:10807690) also suggests seizures are no more common than in general population. Therefore further evidence is required for a clear link between DHCR7 and seizure phenotype. Note that DHCR7 has been promoted to Green on the metabolism panels so will be Green on the GMS epilepsy superpanel through the metabolic phenotype.
Early onset or syndromic epilepsy v1.182 DHCR7 Rebecca Foulger Gene: dhcr7 has been classified as Amber List (Moderate Evidence).
Early onset or syndromic epilepsy v1.181 RANBP2 Rebecca Foulger changed review comment from: Comment on list classification: Demoted RANBP2 from Green to Amber following review by Zornitza Stark and agreement from Helen Brittain (Genomics England clinical team). Recent papers report patients with symptoms (including seizures) after a viral illness (PMID:30796099, PMID:28336122, PMID:25128471). However, listed as a susceptibility locus in OMIM, and papers report incomplete penetrance: variant present in asymptomatic maternal grandmother in PMID:30796099 and in the father in PMID:28336122. Therefore further information is required for a clear gene:disease association.; to: Comment on list classification: Demoted RANBP2 from Green to Amber following review by Zornitza Stark and agreement from Helen Brittain (Genomics England clinical team). Recent papers report patients with symptoms (including seizures) after a viral illness (PMID:30796099, PMID:28336122, PMID:25128471). However, listed as a susceptibility locus in OMIM, and papers report incomplete penetrance: variant present in asymptomatic maternal grandmother in PMID:30796099 and in the father in PMID:28336122. Therefore further information (e.g. on penetrance) is required for a clear gene:disease association.
Early onset or syndromic epilepsy v1.181 RANBP2 Rebecca Foulger Classified gene: RANBP2 as Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.181 RANBP2 Rebecca Foulger Added comment: Comment on list classification: Demoted RANBP2 from Green to Amber following review by Zornitza Stark and agreement from Helen Brittain (Genomics England clinical team). Recent papers report patients with symptoms (including seizures) after a viral illness (PMID:30796099, PMID:28336122, PMID:25128471). However, listed as a susceptibility locus in OMIM, and papers report incomplete penetrance: variant present in asymptomatic maternal grandmother in PMID:30796099 and in the father in PMID:28336122. Therefore further information is required for a clear gene:disease association.
Early onset or syndromic epilepsy v1.181 RANBP2 Rebecca Foulger Gene: ranbp2 has been classified as Amber List (Moderate Evidence).
Intellectual disability v2.980 CTBP1 Rebecca Foulger Classified gene: CTBP1 as Green List (high evidence)
Intellectual disability v2.980 CTBP1 Rebecca Foulger Added comment: Comment on list classification: Gene added to panel and rated Green by Chris Buxton. Changed rating to Green after agreement from Genomics England clinical team- sufficient cases and relevant phenotype. Have added missense tag, because only one missense tag reported so far.
Intellectual disability v2.980 CTBP1 Rebecca Foulger Gene: ctbp1 has been classified as Green List (High Evidence).
Intellectual disability v2.979 CTBP1 Rebecca Foulger commented on gene: CTBP1
Intellectual disability v2.979 MAP3K7 Catherine Snow Mode of inheritance for gene MAP3K7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.979 TKT Catherine Snow Mode of inheritance for gene TKT was changed from to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.979 SUFU Catherine Snow Mode of inheritance for gene SUFU was changed from to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.979 SRP54 Catherine Snow Mode of inheritance for gene SRP54 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.979 SMG9 Catherine Snow Mode of inheritance for gene SMG9 was changed from to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.979 SLC5A7 Catherine Snow Mode of inheritance for gene SLC5A7 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v2.979 SCYL1 Catherine Snow Mode of inheritance for gene SCYL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.979 RSPRY1 Catherine Snow Mode of inheritance for gene RSPRY1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.979 LIPT2 Catherine Snow Mode of inheritance for gene LIPT2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.979 LIAS Catherine Snow Mode of inheritance for gene LIAS was changed from to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.979 GTF2E2 Catherine Snow Mode of inheritance for gene GTF2E2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.979 GMNN Catherine Snow Mode of inheritance for gene GMNN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.979 EMG1 Catherine Snow Mode of inheritance for gene EMG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.979 TRAIP Catherine Snow Mode of inheritance for gene TRAIP was changed from to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.979 PRR12 Catherine Snow Mode of inheritance for gene PRR12 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability v2.979 MRPS34 Catherine Snow Mode of inheritance for gene MRPS34 was changed from to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.979 EMC1 Catherine Snow Mode of inheritance for gene EMC1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.978 MAP3K7 Catherine Snow gene: MAP3K7 was added
gene: MAP3K7 was added to Intellectual disability. Sources: Literature,Expert Review Red
Mode of inheritance for gene: MAP3K7 was set to
Publications for gene: MAP3K7 were set to 27426733; 30914295
Phenotypes for gene: MAP3K7 were set to Frontometaphyseal dysplasia 2, 617137
Intellectual disability v2.978 ZBTB11 Catherine Snow Source Expert Review was added to ZBTB11.
Source Expert Review Amber was added to ZBTB11.
Added phenotypes Intellectual developmental disorder, autosomal recessive 69, 618383 for gene: ZBTB11
Rating Changed from No List (delete) to Amber List (moderate evidence)
Intellectual disability v2.978 VPS11 Catherine Snow Source Expert Review was added to VPS11.
Source Expert Review Amber was added to VPS11.
Added phenotypes Leukodystrophy, hypomyelinating, 12, 616683 for gene: VPS11
Publications for gene VPS11 were changed from 27120463; 26307567; 27473128 to 27473128; 26307567; 27120463
Rating Changed from No List (delete) to Amber List (moderate evidence)
Intellectual disability v2.978 UFC1 Catherine Snow Added phenotypes Neurodevelopmental disorder with spasticity and poor growth, 618076 for gene: UFC1
Publications for gene UFC1 were changed from 29868776; 27431290; 30237576 to 30914295
Intellectual disability v2.978 TSEN15 Catherine Snow Added phenotypes Pontocerebellar hypoplasia, type 2F, 617026 for gene: TSEN15
Publications for gene TSEN15 were changed from 27392077; 25558065 to 27392077; 30914295; 25558065
Intellectual disability v2.978 TKT Catherine Snow gene: TKT was added
gene: TKT was added to Intellectual disability. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: TKT was set to
Publications for gene: TKT were set to 27259054; 30914295
Phenotypes for gene: TKT were set to Short stature, developmental delay, and congenital heart defects, 617044
Intellectual disability v2.978 SUFU Catherine Snow gene: SUFU was added
gene: SUFU was added to Intellectual disability. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: SUFU was set to
Publications for gene: SUFU were set to 28965847; 30914295
Phenotypes for gene: SUFU were set to Joubert syndrome 32, 617757
Intellectual disability v2.978 SRP54 Catherine Snow gene: SRP54 was added
gene: SRP54 was added to Intellectual disability. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: SRP54 was set to
Publications for gene: SRP54 were set to 28972538; 30914295
Phenotypes for gene: SRP54 were set to Syndromic neutropenia with Shwachman-Diamond-like features
Intellectual disability v2.978 SMG9 Catherine Snow gene: SMG9 was added
gene: SMG9 was added to Intellectual disability. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: SMG9 was set to
Publications for gene: SMG9 were set to 27018474; 30914295
Phenotypes for gene: SMG9 were set to Heart and brain malformation syndrome, 616920
Intellectual disability v2.978 SLC5A7 Catherine Snow gene: SLC5A7 was added
gene: SLC5A7 was added to Intellectual disability. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: SLC5A7 was set to
Publications for gene: SLC5A7 were set to 30914295; 27569547
Phenotypes for gene: SLC5A7 were set to Myasthenic syndrome, congenital, 20, presynaptic,CMS20, 617143
Intellectual disability v2.978 SCYL1 Catherine Snow gene: SCYL1 was added
gene: SCYL1 was added to Intellectual disability. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: SCYL1 was set to
Publications for gene: SCYL1 were set to 26581903; 30914295
Phenotypes for gene: SCYL1 were set to Spinocerebellar ataxia, autosomal recessive 21, 616719
Intellectual disability v2.978 RSPRY1 Catherine Snow gene: RSPRY1 was added
gene: RSPRY1 was added to Intellectual disability. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: RSPRY1 was set to
Publications for gene: RSPRY1 were set to 26365341; 30914295
Phenotypes for gene: RSPRY1 were set to Spondyloepimetaphyseal dysplasia, Faden-Alkuraya type, 616585
Intellectual disability v2.978 RNF13 Catherine Snow Source Expert Review was added to RNF13.
Source Expert Review Amber was added to RNF13.
Added phenotypes Epileptic encephalopathy, early infantile, 73, 618379 for gene: RNF13
Publications for gene RNF13 were changed from to 30595371
Rating Changed from No List (delete) to Amber List (moderate evidence)
Intellectual disability v2.978 RAB11A Catherine Snow Source Expert Review was added to RAB11A.
Source Expert Review Amber was added to RAB11A.
Added phenotypes Global developmental delay, Intellectual disability for gene: RAB11A
Rating Changed from No List (delete) to Amber List (moderate evidence)
Intellectual disability v2.978 PTRHD1 Catherine Snow Source Expert Review was added to PTRHD1.
Source Expert Review Amber was added to PTRHD1.
Added phenotypes Parkinsonism, Intellectual disability for gene: PTRHD1
Publications for gene PTRHD1 were changed from 30398675; 27134041; 29143421; 27753167 to 30398675; 27134041; 27753167; 29143421
Rating Changed from No List (delete) to Amber List (moderate evidence)
Intellectual disability v2.978 PTRH2 Catherine Snow Source Expert Review was added to PTRH2.
Source Expert Review Amber was added to PTRH2.
Added phenotypes Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, 616263 for gene: PTRH2
Publications for gene PTRH2 were changed from 25574476; 27129381; 25558065; 28328138; 28175314 to 25574476; 28175314; 28328138; 25558065; 27129381
Rating Changed from No List (delete) to Amber List (moderate evidence)
Intellectual disability v2.978 PLEKHG2 Catherine Snow Source Expert Review was added to PLEKHG2.
Source Expert Review Amber was added to PLEKHG2.
Added phenotypes Leukodystrophy and acquired microcephaly with or without dystonia, 616763 for gene: PLEKHG2
Publications for gene PLEKHG2 were changed from 26539891; 26573021; 24001768 to 26539891; 24001768; 26573021
Rating Changed from No List (delete) to Amber List (moderate evidence)
Intellectual disability v2.978 LSS Catherine Snow Source Expert Review was added to LSS.
Source Expert Review Amber was added to LSS.
Added phenotypes Cataract 44, Hypotrichosis 14, 616509, 618275 for gene: LSS
Publications for gene LSS were changed from 30723320; 30401459 to 30723320; 26200341; 30401459; 29016354
Rating Changed from No List (delete) to Amber List (moderate evidence)
Intellectual disability v2.978 LIPT2 Catherine Snow gene: LIPT2 was added
gene: LIPT2 was added to Intellectual disability. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: LIPT2 was set to
Publications for gene: LIPT2 were set to 28628643; 30914295
Phenotypes for gene: LIPT2 were set to Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668
Intellectual disability v2.978 LIAS Catherine Snow gene: LIAS was added
gene: LIAS was added to Intellectual disability. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: LIAS was set to
Publications for gene: LIAS were set to 22152680; 26108146; 24334290; 30914295
Phenotypes for gene: LIAS were set to Hyperglycinemia, lactic acidosis, and seizures, 614462
Intellectual disability v2.978 GTF2E2 Catherine Snow gene: GTF2E2 was added
gene: GTF2E2 was added to Intellectual disability. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: GTF2E2 was set to
Publications for gene: GTF2E2 were set to 30914295; 26996949
Phenotypes for gene: GTF2E2 were set to Trichothiodystrophy 6, nonphotosensitive, 616943
Intellectual disability v2.978 GMNN Catherine Snow gene: GMNN was added
gene: GMNN was added to Intellectual disability. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: GMNN was set to
Publications for gene: GMNN were set to 26637980; 30914295
Phenotypes for gene: GMNN were set to Meier-Gorlin syndrome 6, 616835
Intellectual disability v2.978 FUK Catherine Snow Source Expert Review was added to FUK.
Source Expert Review Amber was added to FUK.
Added phenotypes Congenital disorder of glycosylation with defective fucosylation 2, 618324 for gene: FUK
Rating Changed from No List (delete) to Amber List (moderate evidence)
Intellectual disability v2.978 FRRS1L Catherine Snow Source Expert Review Amber was added to FRRS1L.
Added phenotypes Epileptic encephalopathy, early infantile, 37, 616981 for gene: FRRS1L
Publications for gene FRRS1L were changed from 27236917; 27239025; 21147040; 29276473 to 29276473; 27239025; 21147040; 27236917; 30914295
Rating Changed from No List (delete) to Amber List (moderate evidence)
Intellectual disability v2.978 EMG1 Catherine Snow gene: EMG1 was added
gene: EMG1 was added to Intellectual disability. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: EMG1 was set to
Publications for gene: EMG1 were set to 30914295
Phenotypes for gene: EMG1 were set to Bowen-Conradi syndrome, 211180
Intellectual disability v2.978 DYNC1I2 Catherine Snow Source Expert Review was added to DYNC1I2.
Source Expert Review Amber was added to DYNC1I2.
Added phenotypes Abnormality of head or neck; Microcephaly; Abnormality of nervous system morphology; Intellectual disability for gene: DYNC1I2
Rating Changed from No List (delete) to Amber List (moderate evidence)
Intellectual disability v2.978 DONSON Catherine Snow Source Expert Review was added to DONSON.
Source Expert Review Amber was added to DONSON.
Added phenotypes Microcephaly, short stature, and limb abnormalities 617604; Microcephaly-micromelia syndrome 251230 for gene: DONSON
Rating Changed from No List (delete) to Amber List (moderate evidence)
Intellectual disability v2.978 ZNF462 Catherine Snow Source Expert Review Green was added to ZNF462.
Source Expert Review was added to ZNF462.
Added phenotypes Ptosis, Prominent metopic ridge, Craniosynostosis, Global developmental delay, Intellectual disability, Autistic behavior for gene: ZNF462
Publications for gene ZNF462 were changed from 28513610; 29427787; 14564155; 12825074 to 28513610; 12825074; 29427787; 14564155
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 ZNF142 Catherine Snow Source Expert Review Green was added to ZNF142.
Source Expert Review was added to ZNF142.
Added phenotypes Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 for gene: ZNF142
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 ZMIZ1 Catherine Snow Source Expert Review Green was added to ZMIZ1.
Source Expert Review was added to ZMIZ1.
Added phenotypes Global developmental delay, Intellectual disability, Feeding difficulties, Growth abnormality, Microcephaly, Abnormality of the skeletal system, Abnormality of the urinary system, Abnormality of the cardiovascular system, Abnormality of head or neck for gene: ZMIZ1
Publications for gene ZMIZ1 were changed from 29754769; 18053775; 17967885; 26163108; 27479843 to 29754769; 18053775; 17967885; 30639322; 26163108; 27479843
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 WARS2 Catherine Snow Source Expert Review Green was added to WARS2.
Source Expert Review was added to WARS2.
Added phenotypes Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, 617710 for gene: WARS2
Publications for gene WARS2 were changed from 28236339; 28650581; 28905505; 29783990; 29120065 to 29783990; 28236339; 29120065; 28650581; 28905505
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 VARS Catherine Snow Source Expert Review Green was added to VARS.
Added phenotypes Neurodevelopmental disorder with microcephaly, seizures, and cortical atrophy, 617802 for gene: VARS
Publications for gene VARS were changed from 26539891; 29691655; 30275004 to 26539891; 30275004; 29691655
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 VAMP2 Catherine Snow Source Expert Review Green was added to VAMP2.
Source Expert Review was added to VAMP2.
Added phenotypes Generalized hypotonia, Global developmental delay, Intellectual disability, Autistic behavior, Stereotypic behavior, Seizures, Abnormality of movement, Cortical visual impairment for gene: VAMP2
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 UFM1 Catherine Snow Source Expert Review Green was added to UFM1.
Added phenotypes Leukodystrophy, hypomyelinating, 14, 617899 for gene: UFM1
Publications for gene UFM1 were changed from 28931644; 29868776; 30237576 to 28931644; 29868776; 30914295
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Intellectual disability v2.978 TRRAP Catherine Snow Source Expert Review Green was added to TRRAP.
Source Expert Review was added to TRRAP.
Added phenotypes Developmental delay with or without dysmorphic facies and autism, 603015 for gene: TRRAP
Publications for gene TRRAP were changed from 30827496 to 30827496; 30424743
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 TRAIP Catherine Snow gene: TRAIP was added
gene: TRAIP was added to Intellectual disability. Sources: Expert Review Green,Literature
Mode of inheritance for gene: TRAIP was set to
Publications for gene: TRAIP were set to 26595769; 30914295
Phenotypes for gene: TRAIP were set to Seckel syndrome 9, 616777
Intellectual disability v2.978 SNAP25 Catherine Snow Source Expert Review Green was added to SNAP25.
Added phenotypes ?Myasthenic syndrome, congenital, 18, 616330 for gene: SNAP25
Publications for gene SNAP25 were changed from 29491473; 28135719; 29100083; 25381298; 25003006 to 29100083; 28135719; 25003006; 29491473; 25381298; 30914295
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 RPIA Catherine Snow Source Expert Review Green was added to RPIA.
Source Expert Review was added to RPIA.
Added phenotypes ?Ribose 5-phosphate isomerase deficiency, 608611 for gene: RPIA
Publications for gene RPIA were changed from 14988808; 20499043; 28801340; 30088433 to 20499043; 31056085; 14988808; 30088433; 28801340
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 RALA Catherine Snow Source Expert Review Green was added to RALA.
Source Expert Review was added to RALA.
Added phenotypes Global developmental delay, Intellectual disability, Seizures, Abnormality of nervous system morphology for gene: RALA
Publications for gene RALA were changed from to 30500825
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 RAC3 Catherine Snow Source Expert Review Green was added to RAC3.
Source Expert Review was added to RAC3.
Added phenotypes Abnormality of brain morphology, Abnormal muscle tone, Neurodevelopmental delay, Intellectual disability for gene: RAC3
Publications for gene RAC3 were changed from 30293988; 29276006 to 29276006; 30293988
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 PUS7 Catherine Snow Source Expert Review Green was added to PUS7.
Source Expert Review was added to PUS7.
Added phenotypes Intellectual developmental disorder with abnormal behavior, microcephaly, and short stature, 618342 for gene: PUS7
Publications for gene PUS7 were changed from to 30778726; 30526862
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 PUS3 Catherine Snow Source Expert Review Green was added to PUS3.
Source Expert Review was added to PUS3.
Added phenotypes Mental retardation, autosomal recessive 55, 617051 for gene: PUS3
Publications for gene PUS3 were changed from 27055666; 30308082 to 30697592; 30308082; 27055666
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 PRR12 Catherine Snow Source Expert Review Green was added to PRR12.
Source Expert Review was added to PRR12.
Added phenotypes Global developmental delay, Intellectual disability, Abnormality of the iris, Abnormality of vision, Behavioral abnormality for gene: PRR12
Publications for gene PRR12 were changed from 29556724; 26163108 to 28135719; 26163108; 29556724
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 PPP2CA Catherine Snow Source Expert Review Green was added to PPP2CA.
Source Expert Review was added to PPP2CA.
Added phenotypes Neurodevelopmental disorder and language delay with or without structural brain abnormalities, 618354 for gene: PPP2CA
Publications for gene PPP2CA were changed from 29274472; 30030003 to 29274472; 30030003; 30595372
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 PPP1R21 Catherine Snow Source Expert Review Green was added to PPP1R21.
Source Expert Review was added to PPP1R21.
Added phenotypes Generalized hypotonia, Feeding difficulties, Profound global developmental delay, Abnormality of the face, Abnormality of vision, Abnormal heart morphology, Abnormality of the respiratory system, Hepatosplenomegaly for gene: PPP1R21
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 PITRM1 Catherine Snow Source Expert Review Green was added to PITRM1.
Source Expert Review was added to PITRM1.
Added phenotypes Ataxia; Intellectual disability for gene: PITRM1
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 PIGG Catherine Snow Source Expert Review Green was added to PIGG.
Added phenotypes Mental retardation, autosomal recessive 53, 616917 for gene: PIGG
Publications for gene PIGG were changed from 26996948; 28581210 to 28581210; 26996948; 30914295
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 P4HTM Catherine Snow Source Expert Review Green was added to P4HTM.
Source Expert Review was added to P4HTM.
Added phenotypes Central hypotonia, Muscular hypotonia, Global developmental delay, Intellectual disability, Seizures, Abnormality of the eye, Hypoventilation, Sleep apnea, Dysautonomia for gene: P4HTM
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 MRPS34 Catherine Snow gene: MRPS34 was added
gene: MRPS34 was added to Intellectual disability. Sources: Expert Review Green,Literature
Mode of inheritance for gene: MRPS34 was set to
Publications for gene: MRPS34 were set to 30914295; 28777931
Phenotypes for gene: MRPS34 were set to Combined oxidativephosphorylation deficiency 32, 617664
Intellectual disability v2.978 GPT2 Catherine Snow Source Expert Review Green was added to GPT2.
Source Expert Review was added to GPT2.
Added phenotypes Mental retardation, autosomal recessive 49, 138210 for gene: GPT2
Publications for gene GPT2 were changed from PMID: 25758935; 27601654; 28130718; 29226631 to 27601654; 28130718; 29226631; 25758935
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 GNB5 Catherine Snow Source Expert Review Green was added to GNB5.
Added phenotypes Language delay and ADHD/cognitive impairment with or without cardiac arrhythmia, 617182; Intellectual developmental disorder with cardiac arrhythmia, 617173 for gene: GNB5
Publications for gene GNB5 were changed from 27523599; 27677260; 28697420; 29368331 to 27677260; 28697420; 29368331; 30914295; 27523599
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 FBXL3 Catherine Snow Source Expert Review Green was added to FBXL3.
Added phenotypes Intellectual developmental disorder with short stature, facial anomalies, and speech defects, 606220 for gene: FBXL3
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 FARS2 Catherine Snow Source Expert Review Green was added to FARS2.
Source Expert Review was added to FARS2.
Added phenotypes Spastic paraplegia 77, autosomal recessive, 617046; Combined oxidative phosphorylation deficiency 14, 614946 for gene: FARS2
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 EMC1 Catherine Snow Source Expert Review Green was added to EMC1.
Added phenotypes Cerebellar atrophy, visual impairment, and psychomotor retardation, 616875 for gene: EMC1
Publications for gene EMC1 were changed from 26942288; 29271071 to 29271071; 26942288; 30914295
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 DPH1 Catherine Snow Source Expert Review Green was added to DPH1.
Added phenotypes Developmental delay with short stature, dysmorphic features, and sparse hair, 616901 for gene: DPH1
Publications for gene DPH1 were changed from 25558065; 26220823; 29362492; 29410513 to 29362492; 29410513; 26220823; 25558065
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 DHPS Catherine Snow Source Expert Review Green was added to DHPS.
Source Expert Review was added to DHPS.
Added phenotypes Abnormal muscle tone, Global developmental delay, Intellectual disability, Seizures, EEG abnormality, Behavioral abnormality, Abnormality of head or neck for gene: DHPS
Publications for gene DHPS were changed from 21389784; 21850436 to 21389784; 30661771; 21850436
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 DDX59 Catherine Snow Source Expert Review Green was added to DDX59.
Added phenotypes Orofaciodigital syndrome V, 174300 for gene: DDX59
Publications for gene DDX59 were changed from 23972372; 28711741; 29127725 to 28711741; 29127725; 23972372; 30914295
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 DCPS Catherine Snow Source Expert Review Green was added to DCPS.
Added phenotypes Al-Raqad syndrome, 616459 for gene: DCPS
Publications for gene DCPS were changed from 25712129; 25701870; 30289615 to 25701870; 30289615; 25712129
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 CYFIP2 Catherine Snow Source Expert Review Green was added to CYFIP2.
Source Expert Review was added to CYFIP2.
Added phenotypes Epileptic encephalopathy, early infantile, 65, 618008 for gene: CYFIP2
Publications for gene CYFIP2 were changed from 29534297; 29667327; 30664714; 25432536; 27524794; 12818175; 20537992 to 12818175; 30664714; 20537992; 29534297; 25432536; 27524794; 29667327
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 CUX1 Catherine Snow Source Expert Review Green was added to CUX1.
Source Expert Review was added to CUX1.
Added phenotypes Global developmental delay with or without impaired intellectual development, 618330 for gene: CUX1
Publications for gene CUX1 were changed from 30014507; 20510857; 25059644 to 25059644; 20510857; 30014507
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 CARS Catherine Snow Source Expert Review Green was added to CARS.
Source Expert Review was added to CARS.
Added phenotypes Brittle hair; Fragile nails; Microcephaly; Neurodevelopmental delay for gene: CARS
Publications for gene CARS were changed from to 30824121
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 CAD Catherine Snow Source Expert Review Green was added to CAD.
Added phenotypes Epileptic encephalopathy, early infantile, 50 - MIM 616457 for gene: CAD
Publications for gene CAD were changed from 25678555; 28007989 to 25678555; 28007989; 30914295
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 CACNA1B Catherine Snow Source Expert Review was added to CACNA1B.
Added phenotypes Global developmental delay; Seizures; Intellectual disability; Abnormality of movement; Developmental regression for gene: CACNA1B
Publications for gene CACNA1B were changed from 30982612; 25296916 to 26157024; 30982612
Intellectual disability v2.978 BRSK2 Catherine Snow Source Expert Review Green was added to BRSK2.
Source Expert Review was added to BRSK2.
Added phenotypes Global developmental delay, Intellectual disability, Autism, Behavioral abnormality for gene: BRSK2
Publications for gene BRSK2 were changed from https://doi.org/10.1016/j.ajhg.2019.02.002 to 15705853; 23715323; 30879638; 25363768; 28135719
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 AP2M1 Catherine Snow Source Expert Review Green was added to AP2M1.
Source Expert Review was added to AP2M1.
Added phenotypes Seizures; Ataxia; Generalized hypotonia; Intellectual disability; Global developmental delay; Autistic behavior for gene: AP2M1
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.978 ALKBH8 Catherine Snow Source Expert Review Green was added to ALKBH8.
Source Expert Review was added to ALKBH8.
Added phenotypes Global developmental delay; Seizures; Intellectual disability for gene: ALKBH8
Publications for gene ALKBH8 were changed from 31079898 to 31130284; 31079898
Rating Changed from No List (delete) to Green List (high evidence)
Intellectual disability v2.977 FRMPD4 Catherine Snow changed review comment from: Further paper identified to indicated FRMPD4 is relevant to ID. PMID: 29267967 provides details of four unrelated families, two families, family 1 and 4 had already been identified and reported in PMID:25644381.
Family 2, two brothers, had a micro deletion of exon 2, their mother was heterozygous for the same micro deletion.
Family 3, two half-siblings (p.Arg286Ter) Their unaffected mother was heterozygous for the same deletion, a hetrozygous sister was mildly disabled.
No further segregation information for the two families was reported.
Some functional work performed but only for the frameshift variant that was reported in family 1.
Requesting support from clinical team as limited information on the extended families and the female affected in family 3 is the only hetrozygous carrier who displays ID features.; to: Further paper identified to indicated FRMPD4 is relevant to ID. PMID: 29267967 provides details of four unrelated families, two families, family 1 and 4 had already been identified and reported in PMID:25644381.
Family 2, two brothers, had a micro deletion of exon 2, their mother was heterozygous for the same micro deletion.
Family 3, two half-siblings (p.Arg286Ter) Their unaffected mother was heterozygous for the same deletion, a hetrozygous sister was mildly disabled.
No further segregation information for the two families was reported.
Some functional work performed but only for the frameshift variant that was reported in family 1.
Requesting support from clinical team as limited information on the extended families and the female affected in family 3 is the only heterozygous carrier who displays ID features.
Intellectual disability v2.977 FRMPD4 Catherine Snow changed review comment from: Further paper identified to indicated FRMPD4 is relevant to ID. PMID: 29267967 provides details of four unrelated families, two families, family 1 and 4 had already been identified and reported in PMID:25644381.
Family 2, two brothers, had a micro deletion of exon 2, their mother was hetrozygous for the same micro deletion.
Family 3, two half-siblings, p.Arg286Ter . Their unaffected mother was heterozygous for the same deletion, a hetrozygous sister was mildly disabled.
No further segregation information for the two families was reported
Some functional work on mice performed.
Requesting support from clinical team as limited information on the extended families and the female affected in family 3 is the only hetrozygous carrier who displays ID features.; to: Further paper identified to indicated FRMPD4 is relevant to ID. PMID: 29267967 provides details of four unrelated families, two families, family 1 and 4 had already been identified and reported in PMID:25644381.
Family 2, two brothers, had a micro deletion of exon 2, their mother was heterozygous for the same micro deletion.
Family 3, two half-siblings (p.Arg286Ter) Their unaffected mother was heterozygous for the same deletion, a hetrozygous sister was mildly disabled.
No further segregation information for the two families was reported.
Some functional work performed but only for the frameshift variant that was reported in family 1.
Requesting support from clinical team as limited information on the extended families and the female affected in family 3 is the only hetrozygous carrier who displays ID features.
Paediatric disorders v3.581 Rebecca Foulger Changed child panels to: Intellectual disability; Skeletal dysplasia; Rare multisystem ciliopathy disorders; DDG2P; Inborn errors of metabolism; Familial non syndromic congenital heart disease; Limb disorders; Paediatric disorders - additional genes; Skeletal ciliopathies; Ophthalmological ciliopathies; Neurological ciliopathies; Renal ciliopathies
Neurological ciliopathies v0.3 ZNF423 Ellen McDonagh gene: ZNF423 was added
gene: ZNF423 was added to Neurological ciliopathies. Sources: Expert Review Amber
Mode of inheritance for gene: ZNF423 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ZNF423 were set to Nephronophthisis 14; Joubert syndrome 19, 614844; Joubert syndrome with oculorenal defect; Joubert syndrome 19; Nephronophthisis 14, 614844
Neurological ciliopathies v0.3 SUFU Ellen McDonagh gene: SUFU was added
gene: SUFU was added to Neurological ciliopathies. Sources: Expert Review Amber
Mode of inheritance for gene: SUFU was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SUFU were set to Joubert syndrome 32, 617757
Neurological ciliopathies v0.3 POC1B Ellen McDonagh gene: POC1B was added
gene: POC1B was added to Neurological ciliopathies. Sources: Expert Review Amber
Mode of inheritance for gene: POC1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POC1B were set to Cone-rod dystrophy 20 615973, AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY; Joubert Syndrome; Senior-Loken Syndrome
Neurological ciliopathies v0.3 WDR63 Ellen McDonagh gene: WDR63 was added
gene: WDR63 was added to Neurological ciliopathies. Sources: Expert Review Red
Mode of inheritance for gene: WDR63 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WDR63 were set to occipital encephalocele and inconsistent brain lobulation; ciliopathy-like disorder
Neurological ciliopathies v0.3 TBC1D32 Ellen McDonagh gene: TBC1D32 was added
gene: TBC1D32 was added to Neurological ciliopathies. Sources: Expert Review Red
Mode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TBC1D32 were set to No OMIM phenotype; Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35, 36)
Neurological ciliopathies v0.3 TAPT1 Ellen McDonagh gene: TAPT1 was added
gene: TAPT1 was added to Neurological ciliopathies. Sources: Expert Review Red
Mode of inheritance for gene: TAPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TAPT1 were set to 26365339
Phenotypes for gene: TAPT1 were set to Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897
Neurological ciliopathies v0.3 PIBF1 Ellen McDonagh gene: PIBF1 was added
gene: PIBF1 was added to Neurological ciliopathies. Sources: Expert Review Red
Mode of inheritance for gene: PIBF1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PIBF1 were set to 26167768
Phenotypes for gene: PIBF1 were set to Joubert syndrome; ataxia; vermis hypoplasia; developmental delay; thick superior cerebellar peduncles; superior cerebellar dysplasia
Neurological ciliopathies v0.3 PDE6D Ellen McDonagh gene: PDE6D was added
gene: PDE6D was added to Neurological ciliopathies. Sources: Expert Review Red
Mode of inheritance for gene: PDE6D was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PDE6D were set to 24166846
Phenotypes for gene: PDE6D were set to ?Joubert syndrome 22; Joubert Syndrome and Senior-Loken Syndrome 24 gene panel; ?Joubert syndrome 22, 615665
Neurological ciliopathies v0.3 KIF14 Ellen McDonagh gene: KIF14 was added
gene: KIF14 was added to Neurological ciliopathies. Sources: Expert Review Red
Mode of inheritance for gene: KIF14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF14 were set to 24128419
Phenotypes for gene: KIF14 were set to ?Meckel syndrome 12, 616258; complex brain malformation; ?Meckel syndrome 12; intrauterine growth restriction (IUGR); microcephaly; Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome; genitourinary malformation; renal cystic dysplasia/agenesis
Neurological ciliopathies v0.3 KIAA0556 Ellen McDonagh gene: KIAA0556 was added
gene: KIAA0556 was added to Neurological ciliopathies. Sources: Expert Review Red
Mode of inheritance for gene: KIAA0556 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KIAA0556 were set to ?Joubert syndrome 26
Neurological ciliopathies v0.3 EXOC8 Ellen McDonagh gene: EXOC8 was added
gene: EXOC8 was added to Neurological ciliopathies. Sources: Expert Review Red
Mode of inheritance for gene: EXOC8 was set to Unknown
Publications for gene: EXOC8 were set to 22700954
Phenotypes for gene: EXOC8 were set to No OMIM phenotype; Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78)
Neurological ciliopathies v0.3 EXOC3L2 Ellen McDonagh gene: EXOC3L2 was added
gene: EXOC3L2 was added to Neurological ciliopathies. Sources: Expert Review Red
Mode of inheritance for gene: EXOC3L2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EXOC3L2 were set to 28749478; 27894351
Phenotypes for gene: EXOC3L2 were set to Dandy-Walker malformation; enlarged echogenic kidneys; echogenic kidneys; hydrocephalus; anhydramnios
Neurological ciliopathies v0.3 B9D1 Ellen McDonagh gene: B9D1 was added
gene: B9D1 was added to Neurological ciliopathies. Sources: Expert Review Red
Mode of inheritance for gene: B9D1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B9D1 were set to 21493627 (case report, with an additional variant in the CEP290 gene suggesting oligogenetic inheritance); 24886560 (2 cases with Joubert); 25920555 (report a case with heterozygous mutations in CC2D2A and B9D1)
Phenotypes for gene: B9D1 were set to ?Meckel syndrome 9, 614209; ciliopathies; Meckel syndrome; Joubert syndrome 27
Neurological ciliopathies v0.3 ZSWIM6 Ellen McDonagh gene: ZSWIM6 was added
gene: ZSWIM6 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ZSWIM6 were set to 25105228
Phenotypes for gene: ZSWIM6 were set to Acromelic frontonasal dysostosis 603671
Mode of pathogenicity for gene: ZSWIM6 was set to Other - please provide details in the comments
Neurological ciliopathies v0.3 VPS13B Ellen McDonagh gene: VPS13B was added
gene: VPS13B was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13B were set to Cohen syndrome, 216550; COHEN SYNDROME
Neurological ciliopathies v0.3 TXNDC15 Ellen McDonagh gene: TXNDC15 was added
gene: TXNDC15 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: TXNDC15 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TXNDC15 were set to 27894351
Phenotypes for gene: TXNDC15 were set to MGS; Meckel-Gruber syndrome
Neurological ciliopathies v0.3 TMEM67 Ellen McDonagh gene: TMEM67 was added
gene: TMEM67 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM67 were set to PMID: 16415887; PMID: 17160906; PMID: 19058225; PMID: 19508969; PMID: 20607301; PMID: 18327255
Phenotypes for gene: TMEM67 were set to Joubert syndrome; nephronophthisis; COACH syndrome; Joubert syndrome 6; ?Bardet-Biedl syndrome?; Senior-Boichis syndrome; 613550; 607361; Meckel-Gruber syndrome; Meckel syndrome; 610688; Nephronophthisis 11; 216360
Neurological ciliopathies v0.3 TMEM237 Ellen McDonagh gene: TMEM237 was added
gene: TMEM237 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM237 were set to 22152675; 20301500
Phenotypes for gene: TMEM237 were set to Joubert syndrome; Joubert syndrome with oculorenal defect; Joubert syndrome 14
Neurological ciliopathies v0.3 TMEM231 Ellen McDonagh gene: TMEM231 was added
gene: TMEM231 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM231 were set to Meckel syndrome; Joubert syndrome 20; Joubert syndrome with oculorenal defect; Joubert syndrome 20, 614970; Meckel syndrome 11, 615397
Neurological ciliopathies v0.3 TMEM216 Ellen McDonagh gene: TMEM216 was added
gene: TMEM216 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM216 were set to 22282472; 20036350; 20512146
Phenotypes for gene: TMEM216 were set to Joubert syndrome: Meckel-Gruber syndrome; Joubert syndrome with oculorenal defect; Meckel syndrome; Joubert syndrome 2
Neurological ciliopathies v0.3 TMEM138 Ellen McDonagh gene: TMEM138 was added
gene: TMEM138 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM138 were set to 22282472
Phenotypes for gene: TMEM138 were set to Joubert syndrome with oculorenal defect; Joubert syndrome 16
Neurological ciliopathies v0.3 TMEM107 Ellen McDonagh gene: TMEM107 was added
gene: TMEM107 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM107 were set to 26518474; 26123494; 22698544; 26595381
Phenotypes for gene: TMEM107 were set to Meckel syndrome 13 617562; ?Joubert syndrome 29 617562; Orofaciodigital syndrome XVI 617563
Neurological ciliopathies v0.3 TCTN3 Ellen McDonagh gene: TCTN3 was added
gene: TCTN3 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCTN3 were set to 25118024; 22883145
Phenotypes for gene: TCTN3 were set to Joubert syndrome; Orofaciodigital syndrome IV; Joubert syndrome 18; Meckel-Gruber; Mohr-Majewski syndrome
Neurological ciliopathies v0.3 TCTN2 Ellen McDonagh gene: TCTN2 was added
gene: TCTN2 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCTN2 were set to 25118024; 21565611
Phenotypes for gene: TCTN2 were set to Meckel syndrome; Joubert syndrome 24; Joubert syndrome, Meckel-Gruber syndrome
Neurological ciliopathies v0.3 TCTN1 Ellen McDonagh gene: TCTN1 was added
gene: TCTN1 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: TCTN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TCTN1 were set to 20301500; 22693042; 26489806; 21725307; 26477546; 28631893
Phenotypes for gene: TCTN1 were set to Joubert syndrome
Neurological ciliopathies v0.3 SCLT1 Ellen McDonagh gene: SCLT1 was added
gene: SCLT1 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SCLT1 were set to 15797711
Phenotypes for gene: SCLT1 were set to Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35,36); No OMIM phenotype
Neurological ciliopathies v0.3 RPGRIP1L Ellen McDonagh gene: RPGRIP1L was added
gene: RPGRIP1L was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RPGRIP1L were set to 17558409; 17558407; 19574260
Phenotypes for gene: RPGRIP1L were set to Joubert syndrome 7; Meckel syndrome 5; Joubert syndrome; Meckel syndrome; Meckel-Gruber syndrome
Neurological ciliopathies v0.3 PMM2 Ellen McDonagh gene: PMM2 was added
gene: PMM2 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMM2 were set to 9140401
Phenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia 212065
Neurological ciliopathies v0.3 OFD1 Ellen McDonagh gene: OFD1 was added
gene: OFD1 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: OFD1 were set to 19800048; 22353940
Phenotypes for gene: OFD1 were set to Joubert syndrome 10; X-linked Joubert syndrome; Orofaciodigital syndrome I
Neurological ciliopathies v0.3 NPHP3 Ellen McDonagh gene: NPHP3 was added
gene: NPHP3 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPHP3 were set to Renal-hepatic-pancreatic dysplasia; Senior-Loken syndrome; Nephronophthisis 3, 604387; Meckel syndrome 7, 267010; Renal-hepatic-pancreatic dysplasia 1, 208540; Nephronophthisis
Neurological ciliopathies v0.3 NPHP1 Ellen McDonagh gene: NPHP1 was added
gene: NPHP1 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NPHP1 were set to 15138899; 22982934; 15689444
Phenotypes for gene: NPHP1 were set to Joubert syndrome 4; Senior-Loken syndrome; 256100 Senior-Loken syndrome-1, 266900; 609583 Nephronophthisis 1, juvenile; Nephronophthisis
Neurological ciliopathies v0.3 MKS1 Ellen McDonagh gene: MKS1 was added
gene: MKS1 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MKS1 were set to 26490104; 17437276; 18327255; 24886560; 16415886
Phenotypes for gene: MKS1 were set to occipital encephalocele; Joubert syndrome; Bardet-Biedl syndrome; Joubert syndrome 28; 249000; polydactyly; polycystic kidneys; Meckel-Gruber syndrome; Meckel syndrome; renal fibrosis
Mode of pathogenicity for gene: MKS1 was set to Other - please provide details in the comments
Neurological ciliopathies v0.3 KIF7 Ellen McDonagh gene: KIF7 was added
gene: KIF7 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF7 were set to 21633164
Phenotypes for gene: KIF7 were set to Joubert syndrome 12 200990; Acrocallosal syndrome 200990
Neurological ciliopathies v0.3 KIAA0753 Ellen McDonagh gene: KIAA0753 was added
gene: KIAA0753 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: KIAA0753 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0753 were set to 26643951
Phenotypes for gene: KIAA0753 were set to Orofaciodigital syndrome XV 617127
Neurological ciliopathies v0.3 KIAA0586 Ellen McDonagh gene: KIAA0586 was added
gene: KIAA0586 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: KIAA0586 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIAA0586 were set to 26096313
Phenotypes for gene: KIAA0586 were set to Joubert syndrome 23; Joubert syndrome; Short-rib thoracic dysplasia 14 with polydactyly; Short-rib dysplasia 14 with polydactyly
Neurological ciliopathies v0.3 INPP5E Ellen McDonagh gene: INPP5E was added
gene: INPP5E was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INPP5E were set to 23386033; 26748598
Phenotypes for gene: INPP5E were set to Joubert syndrome; Joubert syndrome 1
Neurological ciliopathies v0.3 ICK Ellen McDonagh gene: ICK was added
gene: ICK was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: ICK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ICK were set to 19185282; 27069622; 27466187
Phenotypes for gene: ICK were set to short-rib thoracic dysplasia with polydactyly (SRTD); Endocrine-cerebroosteodysplasia, 612651; ECO
Neurological ciliopathies v0.3 HYLS1 Ellen McDonagh gene: HYLS1 was added
gene: HYLS1 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HYLS1 were set to 26830932 - report in two siblings with Joubert syndrome; 19656802 - impairment in ciligenesis; 18648327 - Hydrolethalus syndrome; 15843405 - Hydrolethalus syndrome
Phenotypes for gene: HYLS1 were set to Joubert syndrome; Hydrolethalus syndrome, 236680
Neurological ciliopathies v0.3 GLI3 Ellen McDonagh gene: GLI3 was added
gene: GLI3 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GLI3 were set to Joubert Syndrome and Senior-Loken Syndrome 24 gene panel
Neurological ciliopathies v0.3 EVC2 Ellen McDonagh gene: EVC2 was added
gene: EVC2 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: EVC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC2 were set to Ellis-van Creveld syndrome, 225500; Weyers acrofacial dysostosis, 193530
Neurological ciliopathies v0.3 EVC Ellen McDonagh gene: EVC was added
gene: EVC was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: EVC was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EVC were set to Ellis-van Creveld syndrome, 225500; Weyers acrodental dysostosis, 193530
Neurological ciliopathies v0.3 DHCR7 Ellen McDonagh gene: DHCR7 was added
gene: DHCR7 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DHCR7 were set to 9634533
Phenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome 270400
Neurological ciliopathies v0.3 DDX59 Ellen McDonagh gene: DDX59 was added
gene: DDX59 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: DDX59 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDX59 were set to 29127725; 23972372; 28711741
Phenotypes for gene: DDX59 were set to Orofaciodigital syndrome V, 174300
Neurological ciliopathies v0.3 CSPP1 Ellen McDonagh gene: CSPP1 was added
gene: CSPP1 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSPP1 were set to 24360807; 24360803; 24360808
Phenotypes for gene: CSPP1 were set to Joubert syndrome; Meckel syndrome; Joubert syndrome 21; Meckel-Gruber syndrome
Neurological ciliopathies v0.3 CRB2 Ellen McDonagh gene: CRB2 was added
gene: CRB2 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: CRB2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CRB2 were set to 25557780
Phenotypes for gene: CRB2 were set to Ventriculomegaly with cystic kidney disease 219730
Neurological ciliopathies v0.3 CEP41 Ellen McDonagh gene: CEP41 was added
gene: CEP41 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP41 were set to 22246503
Phenotypes for gene: CEP41 were set to Joubert syndrome 15
Neurological ciliopathies v0.3 CEP290 Ellen McDonagh gene: CEP290 was added
gene: CEP290 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP290 were set to 20690115; 18327255
Phenotypes for gene: CEP290 were set to 610189; Meckel syndrome 4; Senior-Loken syndrome; 611755; Joubert syndrome 5; Joubert syndrome with oculorenal defect; 610188; Senior-Loken syndrome 6; 611134; Meckel syndrome
Neurological ciliopathies v0.3 CEP104 Ellen McDonagh gene: CEP104 was added
gene: CEP104 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: CEP104 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CEP104 were set to 26477546
Phenotypes for gene: CEP104 were set to Joubert syndrome 25, 616781; Joubert syndrome 25
Neurological ciliopathies v0.3 CENPF Ellen McDonagh gene: CENPF was added
gene: CENPF was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: CENPF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CENPF were set to 26820108
Phenotypes for gene: CENPF were set to Stromme syndrome, 243605; Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Neurological ciliopathies v0.3 CC2D2A Ellen McDonagh gene: CC2D2A was added
gene: CC2D2A was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CC2D2A were set to Joubert syndrome 9; COACH syndrome; Joubert syndrome with oculorenal defect; Meckel syndrome 6; Meckel syndrome
Neurological ciliopathies v0.3 C5orf42 Ellen McDonagh gene: C5orf42 was added
gene: C5orf42 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C5orf42 were set to 22693042; 25920555; 22425360
Phenotypes for gene: C5orf42 were set to Joubert syndrome; Oral-facial-digital syndrome type VI; Joubert syndrome 17
Neurological ciliopathies v0.3 C2CD3 Ellen McDonagh gene: C2CD3 was added
gene: C2CD3 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C2CD3 were set to 24997988; 26044959; 27094867
Phenotypes for gene: C2CD3 were set to short-rib polydactyly syndromes (SRPS; MIM208500); MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD; ?Orofaciodigital syndrome XIV, 615948; Orofaciodigital syndromes (OFDS, MIM 311200)
Neurological ciliopathies v0.3 B9D2 Ellen McDonagh gene: B9D2 was added
gene: B9D2 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: B9D2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B9D2 were set to 21763481 - two affected fetuses form the same family displayed overlapping phenotypes including cystic kidneys, ductal plate malformation, polydactyly, and occipital encephalocele. Homozygous variant identified in this gene, which was not present in the unaffected son. Homozygous variants were not identified in other known Meckel syndrome genes; 26092869 - two further cases with Joubert syndrome reported from two different families
Phenotypes for gene: B9D2 were set to Joubert syndrome; Meckel syndrome 10, 614175; ciliopathies; Meckel syndrome
Neurological ciliopathies v0.3 ARMC9 Ellen McDonagh gene: ARMC9 was added
gene: ARMC9 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: ARMC9 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARMC9 were set to 28625504
Phenotypes for gene: ARMC9 were set to Joubert syndrome 30, 617622
Neurological ciliopathies v0.3 ARL13B Ellen McDonagh gene: ARL13B was added
gene: ARL13B was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: ARL13B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL13B were set to 18674751; 25138100
Phenotypes for gene: ARL13B were set to Joubert syndrome 8
Neurological ciliopathies v0.3 AHI1 Ellen McDonagh gene: AHI1 was added
gene: AHI1 was added to Neurological ciliopathies. Sources: Expert Review Green
Mode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: AHI1 were set to Joubert syndrome 3; Joubert syndrome; Joubert syndrome-3.
Neurological ciliopathies v0.2 Ellen McDonagh Panel types changed to GMS Rare Disease Virtual; Component Of Super Panel
Intellectual disability v2.977 FRMPD4 Catherine Snow changed review comment from: Further paper identified to indicated FRMPD4 is relevant to ID. PMID: 29267967 provides details of four unrelated families, two families, family 1 and 4 had already been identified and reported in PMID:25644381.
Family 2, two brothers, had a micro deletion of exon 2, their mother was hetrozygous for the same micro deletion
Family 3, two half-siblings, p.Arg286Ter . Their unaffected mother was heterozygous for the same deletion, a hetrozygous sister was mildly disabled.
No further segregation information for the two families was reported
Some functional work on mice performed.
Requesting support from clinical team as limited information on the extended families and the female affected in family 3 is the only hetrozygous carrier who displays ID features.; to: Further paper identified to indicated FRMPD4 is relevant to ID. PMID: 29267967 provides details of four unrelated families, two families, family 1 and 4 had already been identified and reported in PMID:25644381.
Family 2, two brothers, had a micro deletion of exon 2, their mother was hetrozygous for the same micro deletion.
Family 3, two half-siblings, p.Arg286Ter . Their unaffected mother was heterozygous for the same deletion, a hetrozygous sister was mildly disabled.
No further segregation information for the two families was reported
Some functional work on mice performed.
Requesting support from clinical team as limited information on the extended families and the female affected in family 3 is the only hetrozygous carrier who displays ID features.
Intellectual disability v2.977 FRMPD4 Catherine Snow changed review comment from: PMID: 29267967 provides details of four unrelated families, two families, family 1 and 4 had already been identified and reported in PMID:25644381.
Family 2, two brothers, had a micro deletion of exon 2, their mother was hetrozygous for the same micro deletion
Family 3, two half-siblings, p.Arg286Ter . Their unaffected mother was heterozygous for the same deletion, a hetrozygous sister was mildly disabled.
No further segregation information for the two families was reported
Some functional work on mice performed.
Requesting support from clinical team as limited information on the extended families and the female affected in family 3 is the only hetrozygous carrier who displays ID features.; to: Further paper identified to indicated FRMPD4 is relevant to ID. PMID: 29267967 provides details of four unrelated families, two families, family 1 and 4 had already been identified and reported in PMID:25644381.
Family 2, two brothers, had a micro deletion of exon 2, their mother was hetrozygous for the same micro deletion
Family 3, two half-siblings, p.Arg286Ter . Their unaffected mother was heterozygous for the same deletion, a hetrozygous sister was mildly disabled.
No further segregation information for the two families was reported
Some functional work on mice performed.
Requesting support from clinical team as limited information on the extended families and the female affected in family 3 is the only hetrozygous carrier who displays ID features.
Intellectual disability v2.977 FRMPD4 Catherine Snow reviewed gene: FRMPD4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.320 VDR Rebecca Foulger commented on gene: VDR: This gene was reviewed by Anna de Burca (Genomics England clinical team) and Melita Irving. Melita reports that difficult to determine if skeletal features present antenatally as often mother has vitamin D deficiency too, so on balance probably should be Green.
Fetal anomalies v0.320 TERT Rebecca Foulger Classified gene: TERT as Red List (low evidence)
Fetal anomalies v0.320 TERT Rebecca Foulger Gene: tert has been classified as Red List (Low Evidence).
Fetal anomalies v0.319 TERT Rebecca Foulger commented on gene: TERT: This gene was reviewed by Anna de Burca (Genomics England clinical team) and Melita Irving. Melita couldn't see any reason for inclusion on this panel, so have demoted rating from Green to Red.
Fetal anomalies v0.319 TGFB1 Rebecca Foulger Classified gene: TGFB1 as Red List (low evidence)
Fetal anomalies v0.319 TGFB1 Rebecca Foulger Gene: tgfb1 has been classified as Red List (Low Evidence).
Fetal anomalies v0.318 TGFB1 Rebecca Foulger commented on gene: TGFB1: This gene was reviewed by Anna de Burca (Genomics England clinical team) and Melita Irving. Melita said seemed unlikely to present in a fetus so demoted rating from Green to Red.
Intellectual disability v2.977 KIF2A Catherine Snow changed review comment from: Three further cases identified in the literature.
PMID:27747449 (Cavallin et al 2017) detected two de novo p.Ser317Asn and p.His321Pro mutations in KIF2A in two patients with lissencephaly and microcephaly. Case 1 had DD, no epilepsy but was only 9 months old at last reporting. Case 2 had neonatal seizures and severe DD.
PMID:27896282 (Tian et al 2016) report a patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous variant in KIF2A (p.Thr320Ile).

Therefore upgrading rating from Amber to Green as now sufficient (>3) unrelated cases.; to: Three further cases identified in the literature.
PMID:27747449 (Cavallin et al 2017) detected two de novo p.Ser317Asn and p.His321Pro mutations in KIF2A in two patients with lissencephaly and microcephaly. Case 1 had DD, no epilepsy but was only 9 months old at last reporting. Case 2 had neonatal seizures and severe DD.
PMID:27896282 (Tian et al 2016) report a patient with lissencephaly, developmental delay, and infantile spasms, due to de novo heterozygous variant in KIF2A (p.Thr320Ile).
Most cases identified have epilepsy first however as one individual did not have seizures KIF2A is relevant for the ID panel.
Therefore upgrading rating from Amber to Green as now sufficient (>3) unrelated cases.
Fetal anomalies v0.318 TUBB2A Rebecca Foulger edited their review of gene: TUBB2A: Changed rating: GREEN
Fetal anomalies v0.318 SOX9 Rebecca Foulger edited their review of gene: SOX9: Changed rating: GREEN
Fetal anomalies v0.318 ROBO1 Rebecca Foulger edited their review of gene: ROBO1: Changed rating: GREEN
Fetal anomalies v0.318 RIT1 Rebecca Foulger edited their review of gene: RIT1: Changed rating: GREEN
Fetal anomalies v0.318 RIPK4 Rebecca Foulger edited their review of gene: RIPK4: Changed rating: GREEN
Fetal anomalies v0.318 PTPN11 Rebecca Foulger edited their review of gene: PTPN11: Changed rating: GREEN
Fetal anomalies v0.318 POMK Rebecca Foulger edited their review of gene: POMK: Changed rating: GREEN
Fetal anomalies v0.318 PIK3R2 Rebecca Foulger edited their review of gene: PIK3R2: Changed rating: GREEN; Changed phenotypes: Megalencephaly, neuronal migrational anomaly, congenital heart defect, heterotopias
Fetal anomalies v0.318 PIK3CA Rebecca Foulger edited their review of gene: PIK3CA: Changed rating: GREEN
Fetal anomalies v0.318 L1CAM Rebecca Foulger edited their review of gene: L1CAM: Changed rating: GREEN
Fetal anomalies v0.318 KIAA1109 Rebecca Foulger edited their review of gene: KIAA1109: Changed rating: GREEN
Fetal anomalies v0.318 IARS Rebecca Foulger edited their review of gene: IARS: Changed rating: GREEN
Fetal anomalies v0.318 HRAS Rebecca Foulger edited their review of gene: HRAS: Changed rating: GREEN
Fetal anomalies v0.318 HNRNPK Rebecca Foulger edited their review of gene: HNRNPK: Changed rating: GREEN
Fetal anomalies v0.318 FOXP3 Rebecca Foulger edited their review of gene: FOXP3: Changed rating: GREEN
Fetal anomalies v0.318 FGFR2 Rebecca Foulger edited their review of gene: FGFR2: Changed rating: GREEN
Fetal anomalies v0.318 FANCB Rebecca Foulger edited their review of gene: FANCB: Changed rating: GREEN
Fetal anomalies v0.318 CYP11A1 Rebecca Foulger edited their review of gene: CYP11A1: Changed rating: GREEN
Fetal anomalies v0.318 ARL13B Rebecca Foulger edited their review of gene: ARL13B: Changed rating: GREEN
Fetal anomalies v0.318 AMER1 Rebecca Foulger edited their review of gene: AMER1: Changed rating: GREEN
Fetal anomalies v0.318 ADAMTS17 Rebecca Foulger edited their review of gene: ADAMTS17: Changed rating: GREEN
Fetal anomalies v0.318 BBS4 Rebecca Foulger edited their review of gene: BBS4: Changed rating: GREEN
Fetal anomalies v0.318 MYH10 Rebecca Foulger Added comment: Comment on mode of inheritance: MYH10 is listed in DDG2P with a 'possible' Disease confidence rating and a monoallelic mode of inheritance/allelic requirement. Mutation consequence summary/MOP: loss of function.
Fetal anomalies v0.318 MYH10 Rebecca Foulger Mode of inheritance for gene: MYH10 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.977 DLG4 Catherine Snow Publications for gene: DLG4 were set to 27479843; 25123844; 19617690; 29460436; 23020937; 28135719
Intellectual disability v2.976 DLG4 Catherine Snow Phenotypes for gene: DLG4 were changed from to Intellectual disability; Marfanoid habitus
Fetal anomalies v0.317 MYH10 Rebecca Foulger Added comment: Comment on phenotypes: Added Prenatal imaging phenotype reported in Petrovski et al., 2018 (PMID:30712878) Table 1.
Fetal anomalies v0.317 MYH10 Rebecca Foulger Phenotypes for gene: MYH10 were changed from MYH10-related Multiple congenital anomalies to MYH10-related Multiple congenital anomalies; Bilateral ventriculomegaly; aqueductal stenosis
Intellectual disability v2.976 DLG4 Catherine Snow Publications for gene: DLG4 were set to 27479843; 25123844; 19617690; 29460436; 23020937; 28135719
Intellectual disability v2.976 DLG4 Catherine Snow Publications for gene: DLG4 were set to 27479843; 25123844; 19617690
Fetal anomalies v0.316 INTU Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/compound het variant identified in Normand et al., 2018 (PMID:30266093) and MIM:617925/617926.
Fetal anomalies v0.316 INTU Rebecca Foulger Mode of inheritance for gene: INTU was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability v2.975 DLG4 Catherine Snow reviewed gene: DLG4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Fetal anomalies v0.315 FRMD4A Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/homozygous variant identified in Normand et al., 2018 (PMID:30266093) and MIM:616819.
Fetal anomalies v0.315 FRMD4A Rebecca Foulger Mode of inheritance for gene: FRMD4A was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.314 EIF2B2 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/compound het variant identified in Normand et al., 2018 (PMID:30266093) and MIM:2603896.
Fetal anomalies v0.314 EIF2B2 Rebecca Foulger Mode of inheritance for gene: EIF2B2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.313 DOK7 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/compound het variant identified in Normand et al., 2018 (PMID:30266093) and MIM:254300.
Fetal anomalies v0.313 DOK7 Rebecca Foulger Mode of inheritance for gene: DOK7 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.312 NDUFAF5 Rebecca Foulger Added comment: Comment on mode of inheritance: Biallelic inheritance matches AR/compound het variant identified in Normand et al., 2018 (PMID:30266093) and MIM:618238.
Fetal anomalies v0.312 NDUFAF5 Rebecca Foulger Mode of inheritance for gene: NDUFAF5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.311 DOK7 Rebecca Foulger changed review comment from: This gene was added to the panel following review by Anna de Burca (Genomics England Clinical Team) and a Fetal Working Group call on July 19th 2019 with Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate Green because of finding in Normand et al., 2018 (PMID:30266093) plus additional case. Anna de Burca notes that DOK7 is Green on the Arthrogryposis panel - there seems to be quite variable severity but at least one case of arthrogryposis has been reported, so 2 cases if Normand et al included (doesnt decribe phenotype).; to: This gene was added to the panel following review by Anna de Burca (Genomics England Clinical Team) and a Fetal Working Group call on July 19th 2019 with Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate Green because of finding in Normand et al., 2018 (PMID:30266093) plus additional case. Anna de Burca notes that DOK7 is Green on the Arthrogryposis panel - there seems to be quite variable severity but at least one case of arthrogryposis has been reported, so 2 cases if Normand et al included (doesn't describe phenotype).
Fetal anomalies v0.311 GATA2 Rebecca Foulger edited their review of gene: GATA2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and Sahar Mansour. Outcome of review: Sahar has seen hydrops in Emberger syndrome - Green.; Changed rating: GREEN
Fetal anomalies v0.311 MSH2 Rebecca Foulger edited their review of gene: MSH2: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate all Lynch syndrome genes as Red.; Changed rating: RED
Fetal anomalies v0.311 MSH6 Rebecca Foulger edited their review of gene: MSH6: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate all Lynch syndrome genes as Red.; Changed rating: RED
Fetal anomalies v0.311 MLH1 Rebecca Foulger edited their review of gene: MLH1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate all Lynch syndrome genes as Red.; Changed rating: RED
Fetal anomalies v0.311 ABCD4 Rebecca Foulger commented on gene: ABCD4: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Table 4). Although ABCD4 (CblJ complementation group) is associated with congenital heart disease in PMID:20301503, the Disease confidence rating in Gene2Phenotype is 'probable' with two compound het cases listed in OMIM. Therefore kept rating as Amber awaiting further evidence.
Fetal anomalies v0.311 PTEN Rebecca Foulger edited their review of gene: PTEN: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: No structural features. Demote from Green to Red. ; Changed rating: RED
Fetal anomalies v0.311 USP18 Rebecca Foulger commented on gene: USP18: Kept rating as Amber on advice from Anna de Burca (Genomics England Clinical Team): fetally releavant phenotype but insufficient evidence for Green rating.
Fetal anomalies v0.311 MITF Rebecca Foulger commented on gene: MITF: Kept rating as Amber on advice from Anna de Burca (Genomics England Clinical Team): fetally releavant phenotype but insufficient evidence for Green rating.
Fetal anomalies v0.311 ANO5 Rebecca Foulger edited their review of gene: ANO5: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and Melita Irving. Outcome of review: gnathodiaphyseal dysplasia seemed unlikely to present in a fetus, therefore Red.; Changed rating: RED
Fetal anomalies v0.311 RET Rebecca Foulger edited their review of gene: RET: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and Moin Saleem (University of Bristol). Outcome of review: Rate as Green.; Changed rating: GREEN
Fetal anomalies v0.311 ABCC8 Rebecca Foulger edited their review of gene: ABCC8: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and Karen Temple. Outcome of review: Growth restriction is less marked but queried whether hyperinsulinaemia might cause features that would be picked up on scan. Rate as Red.; Changed rating: RED
Fetal anomalies v0.311 MRPS22 Rebecca Foulger edited their review of gene: MRPS22: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: Yates et al study (PMID:28425981) pulled out a pathogenic variant in MRPS22 in a deceased fetal case with Hydrops, CNS malformations and cardiomyopathy picked up on U/S scan. Additional info from OMIM: A boy with oxidative phosphorylation defect in PMID:21189481 who had microcephaly, dysmorphic features etc at birth. 3 siblings in PMID:17873122. Therefore if include Yates et al, there are 3 cases. ; Changed rating: GREEN; Changed publications: 17873122, 21189481
Fetal anomalies v0.311 SCN2A Rebecca Foulger edited their review of gene: SCN2A: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: 2 reports of cortical malformations, one with ventriculomegaly: PMID:31204721,28254201. no reports of arthrogryposis. Plus finding in Petrovski et al., 2019 (PMID:30712878).; Changed rating: GREEN; Changed publications: 31204721, 28254201
Fetal anomalies v0.311 RAC1 Rebecca Foulger edited their review of gene: RAC1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and a Fetal Working Group call on July 19th 2019 with Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate Green because of finding in Petrovski et al., 2018 (PMID:30712878) plus additional case: Anna de Burca notes: Petrovski case had Dandy-Walker malformation and IUGR. 2 other reported cases: cerebellar anomalies and 2 different cases in same paper had signficant macrocephaly. Therefore 3 cases with structural brain anomalies if Petrovski included.; Changed rating: GREEN
Fetal anomalies v0.311 MYH10 Rebecca Foulger reviewed gene: MYH10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.311 NDUFAF5 Rebecca Foulger reviewed gene: NDUFAF5: Rating: GREEN; Mode of pathogenicity: ; Publications: 18940309, 21620786, 30266093; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.311 INTU Rebecca Foulger reviewed gene: INTU: Rating: GREEN; Mode of pathogenicity: ; Publications: 28289185, 29451301; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.311 FRMD4A Rebecca Foulger reviewed gene: FRMD4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25388005, 30214071; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.311 EIF2B2 Rebecca Foulger reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: ; Publications: 28597716; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.311 DOK7 Rebecca Foulger reviewed gene: DOK7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.311 ACTA1 Rebecca Foulger edited their review of gene: ACTA1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate Green because of finding in Normand et al., 2018 (PMID:30266093) plus additional case: Normand doesn't give any details of the clinical presentation. OMIM says the 'severe form' is associated with arthrogryposis. PMID:2724277 describes brothers with a heterozygous variant who presented antenatally with severe polyhydramnios and reduced fetal movements, postnatally were found to have arthrogryoposis. Parents were second cousins so might have been a missed second variant. PMID:11333380 reports 5 cases with heterozygous variants, some of which were born with severe hypotonia although the only antenatal feature was reduced fetal movements. Rate as Green for AD and AR as evident clinical variability.; Changed rating: GREEN; Changed publications: 2724277, 11333380
Fetal anomalies v0.311 TCTN2 Rebecca Foulger edited their review of gene: TCTN2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) and at a Fetal Working Group call on July 19th 2019. Outcome of review: Rate Green because of diagnostic finding in PAGE study (PMID:30712880) plus additional case. There are 3 reported unrelated families with Joubert syndrome and 3 with Meckel syndrome (all homozygous variants in consanguineous families: PMIDs 21565611, 25118024, 21462283). PMID:25118024 comments that all cases have cerebellar vermis hypoplasia.; Changed rating: GREEN; Changed publications: 21565611, 25118024 & 21462283
Fetal anomalies v0.311 BCL9L Rebecca Foulger reviewed gene: BCL9L: Rating: AMBER; Mode of pathogenicity: ; Publications: 23035047; Phenotypes: Heterotaxy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.311 BRAT1 Rebecca Foulger edited their review of gene: BRAT1: Added comment: Upgraded from Amber to Green following advice from Anna de Burca (Genomics England clinical team). Probable rating in Gene2Phenotype for 'Rigidity and multifocal seizure syndrome, lethal neonatal' but sufficient cases in OMIM for inclusion. (e.g. Saunders et al., 2012, PMID:23035047). Although the main phenotypes are neurological, there are some structural features in some patients.; Changed rating: GREEN; Changed publications: 23035047
Fetal anomalies v0.311 CNOT1 Rebecca Foulger edited their review of gene: CNOT1: Added comment: Upgraded from Amber to Green following advice from Anna de Burca (Genomics England clinical team) and a Fetal Working Group call on July 19th 2019. Phenotypes are relevant to this panel (holoprosencephaly and pancreatic agenesis), sufficient cases (4/5), although phenotype may be variant-specific.; Changed rating: GREEN
Fetal anomalies v0.311 SBDS Rebecca Foulger edited their review of gene: SBDS: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: Shwachman-Diamond syndrome: skeletal defects usually develop within first 2 years but PMID:23254443 reports a case with prenatal onset of short limbs. Therefore Green rating is appropriate.; Changed rating: GREEN; Changed publications: 23254443
Fetal anomalies v0.311 TCF20 Rebecca Foulger edited their review of gene: TCF20: Added comment: As agreed with Anna de Burca (Genomics England Clinical team): Keep TCF20 as Amber: the structural phenotypes are variable (and largely mild). All individuals have ID/DD but the accompanying dysmorphic features are inconsistent, and the authors suggest additional genes may be responsible/modifying- some of the patients had variants in additional genes (or the phenotypes might be very very rare).; Changed publications: 30739909, 30819258
Fetal anomalies v0.311 KMT2E Rebecca Foulger edited their review of gene: KMT2E: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team). Outcome of review: Rate KMT2E as Red.; Changed rating: RED
Fetal anomalies v0.311 DDHD2 Rebecca Foulger edited their review of gene: DDHD2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team). Outcome of review: Rate DDHD2 as Red.; Changed rating: RED
Fetal anomalies v0.311 NAGLU Rebecca Foulger commented on gene: NAGLU: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team) and Kate Tatton-Brown. Outcome of review: Hydrops is not a typical feature in MPS type III, and therefore Amber rating is appropriate.
Fetal anomalies v0.311 MANBA Rebecca Foulger commented on gene: MANBA: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Amber- Single case report of neonatal onset seizures & development of hydrocephalus; most cases present later.
Fetal anomalies v0.311 MAN2B1 Rebecca Foulger edited their review of gene: MAN2B1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Red- not structural phenotype.; Changed rating: RED
Fetal anomalies v0.311 MAN1B1 Rebecca Foulger commented on gene: MAN1B1: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Amber- mild dysmorphic phenotype.
Fetal anomalies v0.311 IDUA Rebecca Foulger edited their review of gene: IDUA: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Green-Umbilical hernia, may cause hydrops.; Changed rating: GREEN
Fetal anomalies v0.311 GM2A Rebecca Foulger commented on gene: GM2A: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Amber- neurological phenotype.
Fetal anomalies v0.311 GAA Rebecca Foulger edited their review of gene: GAA: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Green-PMID:28657663 has prenatal onset of cardiomyopathy.; Changed rating: GREEN; Changed publications: 28657663
Fetal anomalies v0.311 FUCA1 Rebecca Foulger commented on gene: FUCA1: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Amber- no reports of presenting fetally.
Fetal anomalies v0.311 SUMF1 Rebecca Foulger edited their review of gene: SUMF1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Green- Severe form has IUGR & micrognathia.; Changed rating: GREEN
Fetal anomalies v0.311 SGSH Rebecca Foulger commented on gene: SGSH: This gene was reviewed by Anna de Burca (Genomics England Clinical Team) under the category of storage disorders. Outcome of review: Rate as Amber- no reports of presenting fetally.
Fetal anomalies v0.311 TTC19 Rebecca Foulger edited their review of gene: TTC19: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 TMEM70 Rebecca Foulger edited their review of gene: TMEM70: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED; Changed publications: 18953340
Fetal anomalies v0.311 TMEM126B Rebecca Foulger edited their review of gene: TMEM126B: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 TK2 Rebecca Foulger edited their review of gene: TK2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 SURF1 Rebecca Foulger edited their review of gene: SURF1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 SLC25A26 Rebecca Foulger edited their review of gene: SLC25A26: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 SDHAF1 Rebecca Foulger edited their review of gene: SDHAF1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 SDHA Rebecca Foulger edited their review of gene: SDHA: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 SCO2 Rebecca Foulger edited their review of gene: SCO2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Include on the Fetal anomalies panel as a Green gene. Mitochondrial disorder, and PMID:15210538 show early onset cardiomyopathy and two pregnancy losses.; Changed rating: GREEN; Changed publications: 15210538
Fetal anomalies v0.311 SCO1 Rebecca Foulger edited their review of gene: SCO1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 POLG Rebecca Foulger edited their review of gene: POLG: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 PNPT1 Rebecca Foulger edited their review of gene: PNPT1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 PDSS2 Rebecca Foulger edited their review of gene: PDSS2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 PDHX Rebecca Foulger edited their review of gene: PDHX: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 PC Rebecca Foulger edited their review of gene: PC: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 NFU1 Rebecca Foulger edited their review of gene: NFU1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 NDUFV1 Rebecca Foulger edited their review of gene: NDUFV1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 NDUFS8 Rebecca Foulger edited their review of gene: NDUFS8: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 NDUFS7 Rebecca Foulger edited their review of gene: NDUFS7: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 NDUFS4 Rebecca Foulger edited their review of gene: NDUFS4: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 NDUFS1 Rebecca Foulger edited their review of gene: NDUFS1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 NDUFA1 Rebecca Foulger edited their review of gene: NDUFA1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 MT-TP Rebecca Foulger edited their review of gene: MT-TP: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 MPV17 Rebecca Foulger edited their review of gene: MPV17: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 LRPPRC Rebecca Foulger edited their review of gene: LRPPRC: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 FARS2 Rebecca Foulger edited their review of gene: FARS2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 DLD Rebecca Foulger edited their review of gene: DLD: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 COX6B1 Rebecca Foulger edited their review of gene: COX6B1: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 COX15 Rebecca Foulger edited their review of gene: COX15: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 COX10 Rebecca Foulger edited their review of gene: COX10: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 COQ8A Rebecca Foulger edited their review of gene: COQ8A: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED
Fetal anomalies v0.311 COQ2 Rebecca Foulger edited their review of gene: COQ2: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Presentation of mitochondrial disorders can be variable, and most aren't obvious at birth. Therefore exclude unless the gene has been directly associated with a fetal presentation.; Changed rating: RED; Changed publications: 23816342
Fetal anomalies v0.311 BCS1L Rebecca Foulger edited their review of gene: BCS1L: Added comment: This gene was reviewed by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Include on the Fetal anomalies panel as a Green gene. Mitochondrial disorder, and severe IUGR in GRACILE syndrome (MIM: 603358).; Changed rating: GREEN; Changed phenotypes: GRACILE syndrome, 603358
Fetal anomalies v0.311 SLC39A13 Rebecca Foulger commented on gene: SLC39A13: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: spondylodysplastic EDS phenotype. Keep SLC39A13 gene rating as Red.
Fetal anomalies v0.311 SMAD3 Rebecca Foulger edited their review of gene: SMAD3: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Include SMAD3 as Green to be consistent with including TGFBR1. Therefore promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 CYP1B1 Rebecca Foulger edited their review of gene: CYP1B1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although we wouldn't include Peters anomaly alone on the panel, you can get cataracts with Peters anomaly and therefore include PAX6 and CYP1B1 on this basis.; Changed rating: GREEN
Fetal anomalies v0.311 SCN4A Rebecca Foulger edited their review of gene: SCN4A: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Green on arthrogryposis panel, and phenotypes include polyhydramnios, arthrogryposis (variable penetrance). Therefore promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 DNMT3A Rebecca Foulger edited their review of gene: DNMT3A: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: ASD, umbilical hernia, overgrowth. Therefore promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 NDP Rebecca Foulger edited their review of gene: NDP: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Include on basis of PMID:30125416 (Prenatal diagnosis of Norrie disease based on ultrasound findings): Dubcus et al., 2018 describe a case of Norrie disease diagnosed based on ocular defects in the fetus on an ultrasound scan at 31+5 weeks gestation, and confirmed by identification of a de novo c.38T>C variant (p.Leu13Pro) in NDP. The authors say that this is the first case in which Norrie disease was diagnosed based on prenatal imaging only.; Changed rating: GREEN; Changed publications: 30125416
Fetal anomalies v0.311 SMPD1 Rebecca Foulger edited their review of gene: SMPD1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: Green on the Fetal hydrops panel. Promote to Green on the Fetal anomalies panel. Mentioned in review of causes of Non immune hydrops.; Changed rating: GREEN
Fetal anomalies v0.311 NPHP4 Rebecca Foulger edited their review of gene: NPHP4: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype includes hyperechoic kidneys. Therefore promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 DPAGT1 Rebecca Foulger edited their review of gene: DPAGT1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype includes cataract, microcephaly, arthrogryposis. Therefore promote DPAGT1 from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 FKTN Rebecca Foulger edited their review of gene: FKTN: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: muscle-eye-brain disease: include FKTN for consistency. Therefore promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 HGSNAT Rebecca Foulger edited their review of gene: HGSNAT: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team) and Kate Tatton-Brown. Outcome of review: Hydrops is not a typical feature in MPS type III, and therefore Amber rating is appropriate.; Changed rating: AMBER
Fetal anomalies v0.311 PMS2 Rebecca Foulger commented on gene: PMS2: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate all Lynch syndrome genes as Red.
Fetal anomalies v0.311 MMACHC Rebecca Foulger edited their review of gene: MMACHC: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Table 4).; Changed rating: GREEN; Changed publications: 20301503
Fetal anomalies v0.311 LMBRD1 Rebecca Foulger edited their review of gene: LMBRD1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Table 4). Plus Anna de Burca notes that in PMID:19136951: 4/12 cases had congenital heart disease.; Changed rating: GREEN; Changed publications: 20301503, 19136951
Fetal anomalies v0.311 MMADHC Rebecca Foulger edited their review of gene: MMADHC: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Hydrocephalus- Table 4).; Changed rating: GREEN; Changed publications: 20301503
Fetal anomalies v0.311 HCFC1 Rebecca Foulger edited their review of gene: HCFC1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Rate as Green all genes associated with cobalamin metabolism which have a perinatal phenotype listed in PMID:20301503 (Table 4).; Changed rating: GREEN; Changed publications: 20301503
Fetal anomalies v0.311 SETD5 Rebecca Foulger edited their review of gene: SETD5: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although the micrognathia associated with SETD5 variants is not severe, there are quite a few reports of congenital heart defects and a few other structural phenotypes including 2 unrelated families with polydactyly. Therefore promote from Red to Green.; Changed rating: GREEN; Changed publications: 28881385, 27375234
Fetal anomalies v0.311 GALC Rebecca Foulger edited their review of gene: GALC: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). GALC falls into the early onset leukodystrophy category and should be included as Green on the basis of the possibility that something which could present at 3 months could conceivably present at -3 months.; Changed rating: GREEN
Fetal anomalies v0.311 ROGDI Rebecca Foulger edited their review of gene: ROGDI: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: May include structural features. Therefore promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 DNMT3B Rebecca Foulger edited their review of gene: DNMT3B: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotypes include micrognathia and microcephaly. Therefore upgrade DNMT3B from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 TUBB4A Rebecca Foulger edited their review of gene: TUBB4A: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Infantile onset hypomyelination with atrophy of basal ganglia & cerebellum- promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 FTL Rebecca Foulger edited their review of gene: FTL: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team) and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype can include congenital cataracts. Therefore FTL was upgraded from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 GCDH Rebecca Foulger edited their review of gene: GCDH: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team). Outcome of review: Phenotypes include macrocephaly, structural brain- usually present with metabolic crises. Therefore upgrade from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 GALK1 Rebecca Foulger edited their review of gene: GALK1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype includes cataracts. Therefore GALK1 was upgraded from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 FH Rebecca Foulger edited their review of gene: FH: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Discussions and outcome of review: FH is biallelic for 'Fumarase deficiency', and monoallelic for 'Leiomyomatosis and renal cell cancer'. Fumarase deficiency can sometimes have prenatal onset: polyhydramnios & brain malformations. Include for biallelic inheritance only to avoid risk of incidental cancer finding. Therefore FH was upgraded from Red to Green.; Changed rating: GREEN; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.311 GALE Rebecca Foulger edited their review of gene: GALE: Added comment: This gene was reviewed at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Phenotype includes cataracts. Although unclear if cataracts are congenital, include on panel. Therefore GALE was upgraded from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 TBCE Rebecca Foulger edited their review of gene: TBCE: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Promote TBCE from Amber to Green.; Changed rating: GREEN
Fetal anomalies v0.311 WRAP53 Rebecca Foulger edited their review of gene: WRAP53: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although there is no molecular diagnosis, the phenotype includes hydrops/IUGR. Therefore include on the panel as Green.; Changed rating: GREEN
Fetal anomalies v0.311 LAMP2 Rebecca Foulger commented on gene: LAMP2: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Edward Blair (Oxford) confirmed that LAMP2 should remain as Red: cardiomyopathy not detected in utero.
Fetal anomalies v0.311 FOXG1 Rebecca Foulger edited their review of gene: FOXG1: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: May include structural features. Therefore promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 PAX8 Rebecca Foulger edited their review of gene: PAX8: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although there is no molecular diagnosis, the phenotype includes hydrops/IUGR. Therefore include on the panel as Green.; Changed rating: GREEN
Fetal anomalies v0.311 UROS Rebecca Foulger edited their review of gene: UROS: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: macroglossia, umbilical hernia. Therefore promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 PAX6 Rebecca Foulger edited their review of gene: PAX6: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although we wouldn't include Peters anomaly alone on the panel, you can get cataracts with Peters anomaly and therefore include PAX6 and CYP1B1 on this basis.; Changed rating: GREEN
Fetal anomalies v0.311 BFSP2 Rebecca Foulger edited their review of gene: BFSP2: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Can be associated with congenital cataract- promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 HDAC4 Rebecca Foulger edited their review of gene: HDAC4: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Keep rating as Red.; Changed publications: 24715439, 23188045
Fetal anomalies v0.311 POLR3B Rebecca Foulger edited their review of gene: POLR3B: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Early childhood onset leukodystrophy- promote from Red to Green.; Changed rating: GREEN
Fetal anomalies v0.311 SLC25A38 Rebecca Foulger edited their review of gene: SLC25A38: Added comment: This gene was re-reviewed in a consistency check by Anna de Burca (Genomics England Clinical Team), and at a Fetal Working Group call on July 19th 2019 by Lyn Chitty, Anna de Burca, Richard Scott, Rhiannon Mellis, Rebecca Foulger and Ellen McDonagh. Outcome of review: Although there is no molecular diagnosis, the phenotype includes hydrops/IUGR. Therefore include on the panel as Green.; Changed rating: GREEN
Fetal anomalies v0.310 MSH2 Rebecca Foulger Source Expert Review Red was added to MSH2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 MSH6 Rebecca Foulger Source Expert Review Red was added to MSH6.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 MLH1 Rebecca Foulger Source Expert Review Red was added to MLH1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 PTEN Rebecca Foulger Source Expert Review Red was added to PTEN.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 ANO5 Rebecca Foulger Source Expert Review Red was added to ANO5.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Fetal anomalies v0.310 RET Rebecca Foulger Source Expert Review Green was added to RET.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.310 ABCC8 Rebecca Foulger Source Expert Review Red was added to ABCC8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 MRPS22 Rebecca Foulger Source Expert Review Green was added to MRPS22.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.310 SCN2A Rebecca Foulger Source Expert Review Green was added to SCN2A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 RAC1 Rebecca Foulger Source Expert Review Green was added to RAC1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.310 MYH10 Rebecca Foulger gene: MYH10 was added
gene: MYH10 was added to Fetal anomalies. Sources: Expert Review Green,Literature
Mode of inheritance for gene: MYH10 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MYH10 were set to 30712878
Phenotypes for gene: MYH10 were set to MYH10-related Multiple congenital anomalies
Fetal anomalies v0.310 NDUFAF5 Rebecca Foulger gene: NDUFAF5 was added
gene: NDUFAF5 was added to Fetal anomalies. Sources: Expert Review Green,Literature
Mode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFAF5 were set to 18940309; 30266093; 21620786
Phenotypes for gene: NDUFAF5 were set to Mitochondrial complex I deficiency, nuclear type 16, 618238
Fetal anomalies v0.310 INTU Rebecca Foulger gene: INTU was added
gene: INTU was added to Fetal anomalies. Sources: Expert Review Green,Literature
Mode of inheritance for gene: INTU was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: INTU were set to 28289185; 30266093; 29451301
Phenotypes for gene: INTU were set to ?Short-rib thoracic dysplasia 20 with polydactyly, 617925
Fetal anomalies v0.310 FRMD4A Rebecca Foulger gene: FRMD4A was added
gene: FRMD4A was added to Fetal anomalies. Sources: Expert Review Green,Literature
Mode of inheritance for gene: FRMD4A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FRMD4A were set to 30266093; 25388005; 30214071
Phenotypes for gene: FRMD4A were set to ?Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819
Fetal anomalies v0.310 EIF2B2 Rebecca Foulger gene: EIF2B2 was added
gene: EIF2B2 was added to Fetal anomalies. Sources: Expert Review Green,Literature
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EIF2B2 were set to 30266093; 28597716
Phenotypes for gene: EIF2B2 were set to Leukoencephalopathy with vanishing white matter, 603896
Fetal anomalies v0.310 DOK7 Rebecca Foulger gene: DOK7 was added
gene: DOK7 was added to Fetal anomalies. Sources: Expert Review Green,Literature
Mode of inheritance for gene: DOK7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DOK7 were set to 30266093
Phenotypes for gene: DOK7 were set to ?Fetal akinesia deformation sequence 3, 618389; Myasthenic syndrome, congenital, 10, 254300
Fetal anomalies v0.310 ACTA1 Rebecca Foulger Source Expert Review Green was added to ACTA1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.310 TCTN2 Rebecca Foulger Source Expert Review Green was added to TCTN2.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.310 BCL9L Rebecca Foulger gene: BCL9L was added
gene: BCL9L was added to Fetal anomalies. Sources: Literature,Expert Review Amber
Mode of inheritance for gene: BCL9L was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: BCL9L were set to 23035047
Phenotypes for gene: BCL9L were set to Heterotaxy
Fetal anomalies v0.310 BRAT1 Rebecca Foulger Source Expert Review Green was added to BRAT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.310 CNOT1 Rebecca Foulger Source Expert Review Green was added to CNOT1.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.310 SBDS Rebecca Foulger Source Expert Review Green was added to SBDS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 TCF20 Rebecca Foulger Source Expert Review Amber was added to TCF20.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.310 KMT2E Rebecca Foulger Source Expert Review Red was added to KMT2E.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 DDHD2 Rebecca Foulger Source Expert Review Red was added to DDHD2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 NAGLU Rebecca Foulger Source Expert Review Amber was added to NAGLU.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.310 MANBA Rebecca Foulger Source Expert Review Amber was added to MANBA.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.310 MAN2B1 Rebecca Foulger Source Expert Review Red was added to MAN2B1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 MAN1B1 Rebecca Foulger Source Expert Review Amber was added to MAN1B1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.310 GM2A Rebecca Foulger Source Expert Review Amber was added to GM2A.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.310 FUCA1 Rebecca Foulger Source Expert Review Amber was added to FUCA1.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.310 SGSH Rebecca Foulger Source Expert Review Amber was added to SGSH.
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Fetal anomalies v0.310 TTC19 Rebecca Foulger Source Expert Review Red was added to TTC19.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 TMEM70 Rebecca Foulger Source Expert Review Red was added to TMEM70.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 TMEM126B Rebecca Foulger Source Expert Review Red was added to TMEM126B.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 TK2 Rebecca Foulger Source Expert Review Red was added to TK2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 SURF1 Rebecca Foulger Source Expert Review Red was added to SURF1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 SLC25A26 Rebecca Foulger Source Expert Review Red was added to SLC25A26.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 SDHAF1 Rebecca Foulger Source Expert Review Red was added to SDHAF1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 SDHA Rebecca Foulger Source Expert Review Red was added to SDHA.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 SCO1 Rebecca Foulger Source Expert Review Red was added to SCO1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 POLG Rebecca Foulger Source Expert Review Red was added to POLG.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 PNPT1 Rebecca Foulger Source Expert Review Red was added to PNPT1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 PDSS2 Rebecca Foulger Source Expert Review Red was added to PDSS2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 PDHX Rebecca Foulger Source Expert Review Red was added to PDHX.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 PC Rebecca Foulger Source Expert Review Red was added to PC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 NFU1 Rebecca Foulger Source Expert Review Red was added to NFU1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 NDUFV1 Rebecca Foulger Source Expert Review Red was added to NDUFV1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 NDUFS8 Rebecca Foulger Source Expert Review Red was added to NDUFS8.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 NDUFS7 Rebecca Foulger Source Expert Review Red was added to NDUFS7.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 NDUFS4 Rebecca Foulger Source Expert Review Red was added to NDUFS4.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 NDUFS1 Rebecca Foulger Source Expert Review Red was added to NDUFS1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 NDUFA1 Rebecca Foulger Source Expert Review Red was added to NDUFA1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 MT-TP Rebecca Foulger Source Expert Review Red was added to MT-TP.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 MPV17 Rebecca Foulger Source Expert Review Red was added to MPV17.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 LRPPRC Rebecca Foulger Source Expert Review Red was added to LRPPRC.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 FARS2 Rebecca Foulger Source Expert Review Red was added to FARS2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 DLD Rebecca Foulger Source Expert Review Red was added to DLD.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 COX6B1 Rebecca Foulger Source Expert Review Red was added to COX6B1.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 COX15 Rebecca Foulger Source Expert Review Red was added to COX15.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 COX10 Rebecca Foulger Source Expert Review Red was added to COX10.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 COQ8A Rebecca Foulger Source Expert Review Red was added to COQ8A.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 COQ2 Rebecca Foulger Source Expert Review Red was added to COQ2.
Rating Changed from Green List (high evidence) to Red List (low evidence)
Fetal anomalies v0.310 BCS1L Rebecca Foulger Added phenotypes GRACILE syndrome, 603358 for gene: BCS1L
Fetal anomalies v0.310 SMAD3 Rebecca Foulger Source Expert Review Green was added to SMAD3.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 CYP1B1 Rebecca Foulger Source Expert Review Green was added to CYP1B1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 SCN4A Rebecca Foulger Source Expert Review Green was added to SCN4A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 DNMT3A Rebecca Foulger Source Expert Review Green was added to DNMT3A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 NDP Rebecca Foulger Source Expert Review Green was added to NDP.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 SMPD1 Rebecca Foulger Source Expert Review Green was added to SMPD1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 NPHP4 Rebecca Foulger Source Expert Review Green was added to NPHP4.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 DPAGT1 Rebecca Foulger Source Expert Review Green was added to DPAGT1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 FKTN Rebecca Foulger Source Expert Review Green was added to FKTN.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 HGSNAT Rebecca Foulger Source Expert Review Amber was added to HGSNAT.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v0.310 MMACHC Rebecca Foulger Source Expert Review Green was added to MMACHC.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 LMBRD1 Rebecca Foulger Source Expert Review Green was added to LMBRD1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 MMADHC Rebecca Foulger Source Expert Review Green was added to MMADHC.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 HCFC1 Rebecca Foulger Source Expert Review Green was added to HCFC1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 ROGDI Rebecca Foulger Source Expert Review Green was added to ROGDI.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 DNMT3B Rebecca Foulger Source Expert Review Green was added to DNMT3B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 TUBB4A Rebecca Foulger Source Expert Review Green was added to TUBB4A.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 FTL Rebecca Foulger Source Expert Review Green was added to FTL.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 GCDH Rebecca Foulger Source Expert Review Green was added to GCDH.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 GALK1 Rebecca Foulger Source Expert Review Green was added to GALK1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 FH Rebecca Foulger Source Expert Review Green was added to FH.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 GALE Rebecca Foulger Source Expert Review Green was added to GALE.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 TBCE Rebecca Foulger Source Expert Review Green was added to TBCE.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Fetal anomalies v0.310 WRAP53 Rebecca Foulger Source Expert Review Green was added to WRAP53.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 FOXG1 Rebecca Foulger Source Expert Review Green was added to FOXG1.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 PAX8 Rebecca Foulger Source Expert Review Green was added to PAX8.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 UROS Rebecca Foulger Source Expert Review Green was added to UROS.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 PAX6 Rebecca Foulger Source Expert Review Green was added to PAX6.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 BFSP2 Rebecca Foulger Source Expert Review Green was added to BFSP2.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 POLR3B Rebecca Foulger Source Expert Review Green was added to POLR3B.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Fetal anomalies v0.310 SLC25A38 Rebecca Foulger Source Expert Review Green was added to SLC25A38.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism v1.70 PGAM2 Sarah Leigh Classified gene: PGAM2 as Green List (high evidence)
Likely inborn error of metabolism v1.70 PGAM2 Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in 3 unrelated cases.
Likely inborn error of metabolism v1.70 PGAM2 Sarah Leigh Gene: pgam2 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.120 PGAM2 Sarah Leigh changed review comment from: Comment on list classification: Additional case with biallelic variant and rhabdomyolysis; to: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in 3 unrelated cases.
Likely inborn error of metabolism v1.70 PGAM2 Sarah Leigh Classified gene: PGAM2 as Green List (high evidence)
Likely inborn error of metabolism v1.70 PGAM2 Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in 3 unrelated cases.
Likely inborn error of metabolism v1.70 PGAM2 Sarah Leigh Gene: pgam2 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.69 PGAM2 Sarah Leigh Publications for gene: PGAM2 were set to 27604308
Likely inborn error of metabolism v1.68 PGAM2 Sarah Leigh Phenotypes for gene: PGAM2 were changed from Glycogen storage disease type X (Glycogen storage disorders); Rhabdomyolysis and metabolic muscle disorders to Glycogen storage disease X 261670
Likely inborn error of metabolism v1.67 MANBA Sarah Leigh Phenotypes for gene: MANBA were changed from Mannosidosis, beta to Mannosidosis, beta 248510
Undiagnosed metabolic disorders v1.120 MANBA Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.66 MANBA Sarah Leigh Classified gene: MANBA as Green List (high evidence)
Likely inborn error of metabolism v1.66 MANBA Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 9 variants reported in 6 unrelated cases.
Likely inborn error of metabolism v1.66 MANBA Sarah Leigh Gene: manba has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.65 ASAH1 Sarah Leigh Phenotypes for gene: ASAH1 were changed from Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability to Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability
Likely inborn error of metabolism v1.64 ASAH1 Sarah Leigh Publications for gene: ASAH1 were set to 27604308; 29169047; 22703880; 24164096
Likely inborn error of metabolism v1.63 ASAH1 Sarah Leigh Phenotypes for gene: ASAH1 were changed from Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability to Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability
Likely inborn error of metabolism v1.63 ASAH1 Sarah Leigh Deleted their comment
Likely inborn error of metabolism v1.63 ASAH1 Sarah Leigh Publications for gene: ASAH1 were set to 27604308
Likely inborn error of metabolism v1.63 ASAH1 Sarah Leigh Phenotypes for gene: ASAH1 were changed from Farber disease (Sphingolipidoses); Intellectual disability; Fetal hydrops to Spinal muscular atrophy with progressive myoclonic epilepsy 159950, Farber lipogranulomatosis 228000, Fetal hydrops, Intellectual disability
Likely inborn error of metabolism v1.62 ASAH1 Sarah Leigh Classified gene: ASAH1 as Green List (high evidence)
Likely inborn error of metabolism v1.62 ASAH1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in 6 cases of Farber lipogranulomatosis 228000 and 5 variants in 3 cases of Spinal muscular atrophy with progressive myoclonic epilepsy 159950.
Likely inborn error of metabolism v1.62 ASAH1 Sarah Leigh Gene: asah1 has been classified as Green List (High Evidence).
Likely inborn error of metabolism v1.62 ASAH1 Sarah Leigh Classified gene: ASAH1 as Green List (high evidence)
Likely inborn error of metabolism v1.62 ASAH1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 7 variants reported in 6 cases of Farber lipogranulomatosis 228000 and 5 variants in 3 cases of Spinal muscular atrophy with progressive myoclonic epilepsy 159950.
Likely inborn error of metabolism v1.62 ASAH1 Sarah Leigh Gene: asah1 has been classified as Green List (High Evidence).
Adult onset leukodystrophy v0.15 ZFYVE26 Catherine Snow Mode of inheritance for gene ZFYVE26 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 15, autosomal recessive, 270700 for gene: ZFYVE26
Adult onset leukodystrophy v0.15 TYROBP Catherine Snow Mode of inheritance for gene TYROBP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770 for gene: TYROBP
Adult onset leukodystrophy v0.15 TUBB4A Catherine Snow Mode of inheritance for gene TUBB4A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Leukodystrophy, hypomyelinating, 6, 612438 for gene: TUBB4A
Adult onset leukodystrophy v0.15 TREX1 Catherine Snow Mode of inheritance for gene TREX1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Vasculopathy, retinal, with cerebral leukodystrophy, 192315; Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 for gene: TREX1
Adult onset leukodystrophy v0.15 TREM2 Catherine Snow Mode of inheritance for gene TREM2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193 for gene: TREM2
Adult onset leukodystrophy v0.15 SPG11 Catherine Snow Mode of inheritance for gene SPG11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2X, 616668 for gene: SPG11
Adult onset leukodystrophy v0.15 SAMHD1 Catherine Snow Mode of inheritance for gene SAMHD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome 5, 612952 for gene: SAMHD1
Adult onset leukodystrophy v0.15 RPS6KA3 Catherine Snow Mode of inheritance for gene RPS6KA3 was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Added phenotypes Coffin-Lowry syndrome, 303600 for gene: RPS6KA3
Adult onset leukodystrophy v0.15 RNF216 Catherine Snow Mode of inheritance for gene RNF216 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 for gene: RNF216
Adult onset leukodystrophy v0.15 RNASET2 Catherine Snow Mode of inheritance for gene RNASET2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukoencephalopathy, cystic, without megalencephaly, 612951 for gene: RNASET2
Adult onset leukodystrophy v0.15 RNASEH2C Catherine Snow Mode of inheritance for gene RNASEH2C was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome 3, 610329 for gene: RNASEH2C
Adult onset leukodystrophy v0.15 RNASEH2B Catherine Snow Mode of inheritance for gene RNASEH2B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome 2, 610181 for gene: RNASEH2B
Adult onset leukodystrophy v0.15 RNASEH2A Catherine Snow Mode of inheritance for gene RNASEH2A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome 4, 610333 for gene: RNASEH2A
Adult onset leukodystrophy v0.15 PTEN Catherine Snow Mode of inheritance for gene PTEN was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v0.15 PSAP Catherine Snow Mode of inheritance for gene PSAP was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Krabbe disease, atypical, 611722; Metachromatic leukodystrophy due to SAP-b deficiency, 249900 for gene: PSAP
Adult onset leukodystrophy v0.15 POLR3B Catherine Snow Mode of inheritance for gene POLR3B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381 for gene: POLR3B
Adult onset leukodystrophy v0.15 POLR3A Catherine Snow Mode of inheritance for gene POLR3A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694 for gene: POLR3A
Adult onset leukodystrophy v0.15 POLR1C Catherine Snow Mode of inheritance for gene POLR1C was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukodystrophy, hypomyelinating, 11 for gene: POLR1C
Adult onset leukodystrophy v0.15 PLP1 Catherine Snow Mode of inheritance for gene PLP1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Pelizaeus-Merzbacher disease, 312080 for gene: PLP1
Adult onset leukodystrophy v0.15 PEX7 Catherine Snow Mode of inheritance for gene PEX7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 9B, 614879 for gene: PEX7
Adult onset leukodystrophy v0.15 PEX6 Catherine Snow Mode of inheritance for gene PEX6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 4B, 614863; Peroxisome biogenesis disorder 4A (Zellweger), 614862 for gene: PEX6
Adult onset leukodystrophy v0.15 PEX5 Catherine Snow Mode of inheritance for gene PEX5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 2B, 202370; Peroxisome biogenesis disorder 2A (Zellweger), 214110 for gene: PEX5
Adult onset leukodystrophy v0.15 PEX3 Catherine Snow Mode of inheritance for gene PEX3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Peroxisome biogenesis disorder 10B, 617370; Peroxisome biogenesis disorder 10A (Zellweger), 614882 for gene: PEX3
Adult onset leukodystrophy v0.15 PEX26 Catherine Snow Mode of inheritance for gene PEX26 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 7B, 614873; Peroxisome biogenesis disorder 7A (Zellweger), 614872 for gene: PEX26
Adult onset leukodystrophy v0.15 PEX2 Catherine Snow Mode of inheritance for gene PEX2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 5A (Zellweger) 614866; Peroxisome biogenesis disorder 5B, 614867 for gene: PEX2
Adult onset leukodystrophy v0.15 PEX19 Catherine Snow Mode of inheritance for gene PEX19 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 12A (Zellweger), 614886 for gene: PEX19
Adult onset leukodystrophy v0.15 PEX16 Catherine Snow Mode of inheritance for gene PEX16 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 8B, 614877; Peroxisome biogenesis disorder 8A (Zellweger), 614876 for gene: PEX16
Adult onset leukodystrophy v0.15 PEX14 Catherine Snow Mode of inheritance for gene PEX14 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 13A (Zellweger), 614887 for gene: PEX14
Adult onset leukodystrophy v0.15 PEX13 Catherine Snow Mode of inheritance for gene PEX13 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 11A (Zellweger), 614883; Peroxisome biogenesis disorder 11B, 614885 for gene: PEX13
Adult onset leukodystrophy v0.15 PEX12 Catherine Snow Mode of inheritance for gene PEX12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 3A, 614859; Peroxisome biogenesis disorder 3B, 266510 for gene: PEX12
Adult onset leukodystrophy v0.15 PEX11B Catherine Snow Mode of inheritance for gene PEX11B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Peroxisome biogenesis disorder 14B, 614920 for gene: PEX11B
Adult onset leukodystrophy v0.15 PEX10 Catherine Snow Mode of inheritance for gene PEX10 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 6B, 614871 for gene: PEX10
Adult onset leukodystrophy v0.15 PEX1 Catherine Snow Mode of inheritance for gene PEX1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Peroxisome biogenesis disorder 1B (NALD/IRD), 601539 for gene: PEX1
Adult onset leukodystrophy v0.15 PAH Catherine Snow Mode of inheritance for gene PAH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Phenylketonuria, [Hyperphenylalaninemia, non-PKU mild], 261600 for gene: PAH
Adult onset leukodystrophy v0.15 OCRL Catherine Snow Mode of inheritance for gene OCRL was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Lowe syndrome, 309000 for gene: OCRL
Adult onset leukodystrophy v0.15 NOTCH3 Catherine Snow Mode of inheritance for gene NOTCH3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310 for gene: NOTCH3
Adult onset leukodystrophy v0.15 MTHFR Catherine Snow Mode of inheritance for gene MTHFR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Homocystinuria due to MTHFR deficiency, 236250 for gene: MTHFR
Adult onset leukodystrophy v0.15 MCOLN1 Catherine Snow Mode of inheritance for gene MCOLN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mucolipidosis IV, 252650 for gene: MCOLN1
Adult onset leukodystrophy v0.15 MARS Catherine Snow Mode of inheritance for gene MARS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2U, 616280 for gene: MARS
Adult onset leukodystrophy v0.15 LMNB1 Catherine Snow Mode of inheritance for gene LMNB1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Leukodystrophy, adult-onset, autosomal dominant, 169500 for gene: LMNB1
Adult onset leukodystrophy v0.15 L2HGDH Catherine Snow Mode of inheritance for gene L2HGDH was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes L-2-hydroxyglutaric aciduria, 236792 for gene: L2HGDH
Adult onset leukodystrophy v0.15 KIF5A Catherine Snow Mode of inheritance for gene KIF5A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Hereditaryspastic paraplegia for gene: KIF5A
Adult onset leukodystrophy v0.15 HTRA1 Catherine Snow Mode of inheritance for gene HTRA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes CARASIL syndrome, 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779 for gene: HTRA1
Adult onset leukodystrophy v0.15 HMGCL Catherine Snow Mode of inheritance for gene HMGCL was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes HMG-CoA lyase deficiency, 246450 for gene: HMGCL
Adult onset leukodystrophy v0.15 HEXA Catherine Snow Mode of inheritance for gene HEXA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes GM2-gangliosidosis, several forms, Tay-Sachs disease, [Hex A pseudodeficiency], 272800 for gene: HEXA
Adult onset leukodystrophy v0.15 HEPACAM Catherine Snow Mode of inheritance for gene HEPACAM was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926 for gene: HEPACAM
Adult onset leukodystrophy v0.15 GLB1 Catherine Snow Mode of inheritance for gene GLB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes white matter abnormality for gene: GLB1
Adult onset leukodystrophy v0.15 GLA Catherine Snow Mode of inheritance for gene GLA was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Fabry disease, Fabry disease, cardiac variant, 301500 for gene: GLA
Adult onset leukodystrophy v0.15 GJC2 Catherine Snow Mode of inheritance for gene GJC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukodystrophy, hypomyelinating, 2, 608804, for gene: GJC2
Adult onset leukodystrophy v0.15 GJB1 Catherine Snow Mode of inheritance for gene GJB1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800 for gene: GJB1
Adult onset leukodystrophy v0.15 GJA1 Catherine Snow Mode of inheritance for gene GJA1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850 for gene: GJA1
Adult onset leukodystrophy v0.15 GFAP Catherine Snow Mode of inheritance for gene GFAP was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Alexander disease, 203450 for gene: GFAP
Adult onset leukodystrophy v0.15 GBE1 Catherine Snow Mode of inheritance for gene GBE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Polyglucosan body disease, adult form, 263570 for gene: GBE1
Adult onset leukodystrophy v0.15 GALC Catherine Snow Mode of inheritance for gene GALC was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Krabbe disease, 245200 for gene: GALC
Adult onset leukodystrophy v0.15 EIF2B5 Catherine Snow Mode of inheritance for gene EIF2B5 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B5
Adult onset leukodystrophy v0.15 EIF2B4 Catherine Snow Mode of inheritance for gene EIF2B4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B4
Adult onset leukodystrophy v0.15 EIF2B3 Catherine Snow Mode of inheritance for gene EIF2B3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B3
Adult onset leukodystrophy v0.15 EIF2B2 Catherine Snow Mode of inheritance for gene EIF2B2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy, 603896 for gene: EIF2B2
Adult onset leukodystrophy v0.15 EIF2B1 Catherine Snow Mode of inheritance for gene EIF2B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukoencephalopathy with vanishing white matter, 603896 for gene: EIF2B1
Adult onset leukodystrophy v0.15 EARS2 Catherine Snow Mode of inheritance for gene EARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Combined oxidative phosphorylation deficiency 12, 614924 for gene: EARS2
Adult onset leukodystrophy v0.15 DARS2 Catherine Snow Mode of inheritance for gene DARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 for gene: DARS2
Adult onset leukodystrophy v0.15 DARS Catherine Snow Mode of inheritance for gene DARS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS
Adult onset leukodystrophy v0.15 CYP27A1 Catherine Snow Mode of inheritance for gene CYP27A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cerebrotendinous xanthomatosis, 213700 for gene: CYP27A1
Adult onset leukodystrophy v0.15 CTSA Catherine Snow Mode of inheritance for gene CTSA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Galactosialidosis, 256540 for gene: CTSA
Adult onset leukodystrophy v0.15 CTC1 Catherine Snow Mode of inheritance for gene CTC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cerebroretinal microangiopathy with calcifications and cysts, 612199 for gene: CTC1
Adult onset leukodystrophy v0.15 CSF1R Catherine Snow Mode of inheritance for gene CSF1R was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids, 221820 for gene: CSF1R
Adult onset leukodystrophy v0.15 COL4A2 Catherine Snow Mode of inheritance for gene COL4A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Brain small vessel disease 2, 614483 for gene: COL4A2
Adult onset leukodystrophy v0.15 COL4A1 Catherine Snow Mode of inheritance for gene COL4A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Brain small vessel disease with or without ocular anomalies, 175780 for gene: COL4A1
Adult onset leukodystrophy v0.15 CLCN2 Catherine Snow Mode of inheritance for gene CLCN2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukoencephalopathy with ataxia, 615651 for gene: CLCN2
Adult onset leukodystrophy v0.15 ARSA Catherine Snow Mode of inheritance for gene ARSA was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Metachromatic leukodystrophy, 250100 for gene: ARSA
Adult onset leukodystrophy v0.15 ALDH3A2 Catherine Snow Mode of inheritance for gene ALDH3A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Sjogren-Larsson syndrome, 270200 for gene: ALDH3A2
Adult onset leukodystrophy v0.15 ADAR Catherine Snow Mode of inheritance for gene ADAR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome 6, 615010 for gene: ADAR
Adult onset leukodystrophy v0.15 ABCD1 Catherine Snow Mode of inheritance for gene ABCD1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, 300100 for gene: ABCD1
Adult onset leukodystrophy v0.15 AARS2 Catherine Snow Mode of inheritance for gene AARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukoencephalopathy, progressive, with ovarian failure, 615889 for gene: AARS2
Adult onset leukodystrophy v0.15 AARS Catherine Snow Mode of inheritance for gene AARS was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Charcot-Marie-Tooth disease, axonal, type 2N, 613287 for gene: AARS
Adult onset leukodystrophy v0.14 ZFYVE26 Catherine Snow reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 15, autosomal recessive, 270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 TYROBP Catherine Snow reviewed gene: TYROBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, 221770; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 TUBB4A Catherine Snow reviewed gene: TUBB4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 6, 612438; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v0.14 TREX1 Catherine Snow reviewed gene: TREX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive, 225750, Vasculopathy, retinal, with cerebral leukodystrophy, 192315; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 TREM2 Catherine Snow reviewed gene: TREM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 SPG11 Catherine Snow reviewed gene: SPG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2X, 616668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 SAMHD1 Catherine Snow reviewed gene: SAMHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 5, 612952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 RPS6KA3 Catherine Snow reviewed gene: RPS6KA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Coffin-Lowry syndrome, 303600; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset leukodystrophy v0.14 RNF216 Catherine Snow reviewed gene: RNF216: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia and hypogonadotropic hypogonadism, 212840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 RNASET2 Catherine Snow reviewed gene: RNASET2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy, cystic, without megalencephaly, 612951; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 RNASEH2C Catherine Snow reviewed gene: RNASEH2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 3, 610329; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 RNASEH2B Catherine Snow reviewed gene: RNASEH2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 2, 610181; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 RNASEH2A Catherine Snow reviewed gene: RNASEH2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 4, 610333; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PTEN Catherine Snow reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v0.14 PSAP Catherine Snow reviewed gene: PSAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Krabbe disease, atypical, 611722, Metachromatic leukodystrophy due to SAP-b deficiency, 249900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 POLR3B Catherine Snow reviewed gene: POLR3B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, 614381; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 POLR3A Catherine Snow reviewed gene: POLR3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 POLR1C Catherine Snow reviewed gene: POLR1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 11; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PLP1 Catherine Snow reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Pelizaeus-Merzbacher disease, 312080; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset leukodystrophy v0.14 PEX7 Catherine Snow reviewed gene: PEX7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 9B, 614879; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PEX6 Catherine Snow reviewed gene: PEX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 4A (Zellweger), 614862, Peroxisome biogenesis disorder 4B, 614863; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PEX5 Catherine Snow reviewed gene: PEX5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 2A (Zellweger), 214110, Peroxisome biogenesis disorder 2B, 202370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PEX3 Catherine Snow reviewed gene: PEX3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Peroxisome biogenesis disorder 10B, 617370, Peroxisome biogenesis disorder 10A (Zellweger), 614882; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PEX26 Catherine Snow reviewed gene: PEX26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 7A (Zellweger), 614872, Peroxisome biogenesis disorder 7B, 614873; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PEX2 Catherine Snow reviewed gene: PEX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 5A (Zellweger), 614866, Peroxisome biogenesis disorder 5B, 614867; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PEX19 Catherine Snow reviewed gene: PEX19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 12A (Zellweger), 614886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PEX16 Catherine Snow reviewed gene: PEX16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 8A (Zellweger), 614876, Peroxisome biogenesis disorder 8B, 614877; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PEX14 Catherine Snow reviewed gene: PEX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 13A (Zellweger), 614887; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PEX13 Catherine Snow reviewed gene: PEX13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 11A (Zellweger), 614883, Peroxisome biogenesis disorder 11B, 614885; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PEX12 Catherine Snow reviewed gene: PEX12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 3A, 614859, Peroxisome biogenesis disorder 3B, 266510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PEX11B Catherine Snow reviewed gene: PEX11B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Peroxisome biogenesis disorder 14B, 614920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PEX10 Catherine Snow reviewed gene: PEX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 6B, 614871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PEX1 Catherine Snow reviewed gene: PEX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 1B (NALD/IRD), 601539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 PAH Catherine Snow reviewed gene: PAH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Phenylketonuria, [Hyperphenylalaninemia, non-PKU mild], 261600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 OCRL Catherine Snow reviewed gene: OCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Lowe syndrome, 309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset leukodystrophy v0.14 NOTCH3 Catherine Snow reviewed gene: NOTCH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, 125310; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v0.14 MTHFR Catherine Snow reviewed gene: MTHFR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Homocystinuria due to MTHFR deficiency, 236250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 MCOLN1 Catherine Snow reviewed gene: MCOLN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucolipidosis IV, 252650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 MARS Catherine Snow reviewed gene: MARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2U, 616280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v0.14 LMNB1 Catherine Snow reviewed gene: LMNB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, adult-onset, autosomal dominant, 169500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v0.14 L2HGDH Catherine Snow reviewed gene: L2HGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: L-2-hydroxyglutaric aciduria, 236792; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 KIF5A Catherine Snow reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditaryspastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v0.14 HTRA1 Catherine Snow reviewed gene: HTRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: CARASIL syndrome, 600142, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 HMGCL Catherine Snow reviewed gene: HMGCL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: HMG-CoA lyase deficiency, 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 HEXA Catherine Snow reviewed gene: HEXA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: GM2-gangliosidosis, several forms, Tay-Sachs disease, [Hex A pseudodeficiency], 272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 HEPACAM Catherine Snow reviewed gene: HEPACAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925, Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, 613926; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 GLB1 Catherine Snow reviewed gene: GLB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: white matter abnormality; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 GLA Catherine Snow reviewed gene: GLA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Fabry disease, Fabry disease, cardiac variant, 301500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset leukodystrophy v0.14 GJC2 Catherine Snow reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 2, 608804, ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 GJB1 Catherine Snow reviewed gene: GJB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth neuropathy, X-linked dominant, 1, 302800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset leukodystrophy v0.14 GJA1 Catherine Snow reviewed gene: GJA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Oculodentodigital dysplasia, 164200, Oculodentodigital dysplasia, autosomal recessive, 257850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 GFAP Catherine Snow reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Alexander disease, 203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v0.14 GBE1 Catherine Snow reviewed gene: GBE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Polyglucosan body disease, adult form, 263570; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 GALC Catherine Snow reviewed gene: GALC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Krabbe disease, 245200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 EIF2B5 Catherine Snow reviewed gene: EIF2B5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 EIF2B4 Catherine Snow reviewed gene: EIF2B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 EIF2B3 Catherine Snow reviewed gene: EIF2B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 EIF2B2 Catherine Snow reviewed gene: EIF2B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, Ovarioleukodystrophy, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 EIF2B1 Catherine Snow reviewed gene: EIF2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 EARS2 Catherine Snow reviewed gene: EARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 12, 614924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 DARS2 Catherine Snow reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 DARS Catherine Snow reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 CYP27A1 Catherine Snow reviewed gene: CYP27A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, 213700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 CTSA Catherine Snow reviewed gene: CTSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Galactosialidosis, 256540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 CTC1 Catherine Snow reviewed gene: CTC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts, 612199; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 CSF1R Catherine Snow reviewed gene: CSF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy, diffuse hereditary, with spheroids, 221820; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v0.14 COL4A2 Catherine Snow reviewed gene: COL4A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Brain small vessel disease 2, 614483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v0.14 COL4A1 Catherine Snow reviewed gene: COL4A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773, Brain small vessel disease with or without ocular anomalies, 175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset leukodystrophy v0.14 CLCN2 Catherine Snow reviewed gene: CLCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy with ataxia, 615651; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 ARSA Catherine Snow reviewed gene: ARSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Metachromatic leukodystrophy, 250100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 ALDH3A2 Catherine Snow reviewed gene: ALDH3A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Sjogren-Larsson syndrome, 270200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 ADAR Catherine Snow reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, 615010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 ABCD1 Catherine Snow reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Adrenoleukodystrophy, Adrenomyeloneuropathy, adult, 300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset leukodystrophy v0.14 AARS2 Catherine Snow reviewed gene: AARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukoencephalopathy, progressive, with ovarian failure, 615889; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset leukodystrophy v0.14 AARS Catherine Snow reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2N, 613287; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary lymphoedema v1.97 PMM2 Sarah Leigh Classified gene: PMM2 as Green List (high evidence)
Primary lymphoedema v1.97 PMM2 Sarah Leigh Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London), together with association with relevant phenotype and sufficient variants reported.
Primary lymphoedema v1.97 PMM2 Sarah Leigh Gene: pmm2 has been classified as Green List (High Evidence).
Primary lymphoedema v1.96 SHANK3 Sarah Leigh Classified gene: SHANK3 as Green List (high evidence)
Primary lymphoedema v1.96 SHANK3 Sarah Leigh Added comment: Comment on list classification: Based on recommendation from Sahar Mansour (St George's Hospital, London), together with association with relevant phenotype and sufficient variants reported.
Primary lymphoedema v1.96 SHANK3 Sarah Leigh Gene: shank3 has been classified as Green List (High Evidence).
Primary lymphoedema v1.95 HGF Sarah Leigh Publications for gene: HGF were set to
Primary lymphoedema v1.94 MET Sarah Leigh Publications for gene: MET were set to
Primary lymphoedema v1.93 VEGFC Sarah Leigh Publications for gene: VEGFC were set to 23410910; 24744435; 14634646
Primary lymphoedema v1.92 NSD1 Sarah Leigh Publications for gene: NSD1 were set to
Primary lymphoedema v1.91 ALG8 Sarah Leigh Publications for gene: ALG8 were set to
Primary lymphoedema v1.90 PMM2 Sarah Leigh Publications for gene: PMM2 were set to
Primary lymphoedema v1.89 CDH7 Sarah Leigh Publications for gene: CDH7 were set to
Primary lymphoedema v1.88 HGF Sahar Mansour reviewed gene: HGF: Rating: RED; Mode of pathogenicity: ; Publications: 18564920; Phenotypes: Primary and Secondary Lymphedema; Mode of inheritance: Unknown
Primary lymphoedema v1.88 MET Sahar Mansour reviewed gene: MET: Rating: RED; Mode of pathogenicity: ; Publications: 18564920; Phenotypes: Primary and Secondary Lymphedema; Mode of inheritance: Unknown
Primary lymphoedema v1.88 ADAMTS3 Sahar Mansour reviewed gene: ADAMTS3: Rating: GREEN; Mode of pathogenicity: ; Publications: 28985353, 30450763; Phenotypes: Hennekam lymphangiectasia-lymphedema syndrome 3 618154; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary lymphoedema v1.88 IKBKG Sahar Mansour reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency 300301; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Primary lymphoedema v1.88 VEGFC Sahar Mansour reviewed gene: VEGFC: Rating: GREEN; Mode of pathogenicity: ; Publications: 30071673, 23410910; Phenotypes: Congenital Primary Lymphoedema of Gordon, Lymphatic malformation 4 615907; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary lymphoedema v1.88 PIEZO1 Sahar Mansour reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380, Lymphatic malformation 6 616843; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary lymphoedema v1.88 EPHB4 Sahar Mansour reviewed gene: EPHB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Capillary malformation-arteriovenous malformation 2 618196, Lymphatic malformation 7 617300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary lymphoedema v1.88 NSD1 Sarah Leigh reviewed gene: NSD1: Rating: RED; Mode of pathogenicity: ; Publications: 9781911; Phenotypes: Sotos syndrome 1 117550; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary lymphoedema v1.88 RASA1 Sarah Leigh reviewed gene: RASA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Capillary malformation-arteriovenous malformation 1 608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary lymphoedema v1.88 ALG8 Sarah Leigh reviewed gene: ALG8: Rating: RED; Mode of pathogenicity: ; Publications: 12480927, 15235028; Phenotypes: Congenital disorder of glycosylation, type Ih 608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary lymphoedema v1.88 MPI Sarah Leigh reviewed gene: MPI: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ib 602579; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary lymphoedema v1.88 PMM2 Sarah Leigh reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 17158594, 9762608, 15645285, 20638314; Phenotypes: Congenital disorder of glycosylation, type Ia 212065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary lymphoedema v1.88 TSC2 Sarah Leigh reviewed gene: TSC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Focal cortical dysplasia, type II, somatic 607341, Lymphangioleiomyomatosis, somatic 606690, Tuberous sclerosis-2 613254; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary lymphoedema v1.88 TSC1 Sarah Leigh reviewed gene: TSC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Focal cortical dysplasia, type II, somatic 607341, Lymphangioleiomyomatosis 606690, Tuberous sclerosis-1 191100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary lymphoedema v1.88 CDH7 Sarah Leigh reviewed gene: CDH7: Rating: RED; Mode of pathogenicity: ; Publications: 22765916, 24554215; Phenotypes: ; Mode of inheritance: Unknown
Primary lymphoedema v1.88 SHANK3 Sarah Leigh reviewed gene: SHANK3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Phelan-McDermid syndrome 606232; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Intellectual disability v2.975 KIF2A Catherine Snow Classified gene: KIF2A as Green List (high evidence)
Intellectual disability v2.975 KIF2A Catherine Snow Gene: kif2a has been classified as Green List (High Evidence).
Intellectual disability v2.974 KIF2A Catherine Snow commented on gene: KIF2A
Primary lymphoedema v1.87 MET Sarah Leigh commented on gene: MET
Primary lymphoedema v1.87 HGF Sarah Leigh commented on gene: HGF
Primary lymphoedema v1.87 HGF Sarah Leigh Mode of inheritance for gene: HGF was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to Unknown
Primary lymphoedema v1.86 ADAMTS3 Sarah Leigh changed review comment from: Comment on list classification: Associate with phenotype in OMIM, but not in Gen2Phen. Three variants in two cases, together with supportive functional studies (PMID 30450763).; to: Comment on list classification: Associate with phenotype in OMIM, but not in Gen2Phen. At lease three variants in two cases, together with supportive functional studies (PMID 30450763).
Primary lymphoedema v1.86 ADAMTS3 Sarah Leigh Publications for gene: ADAMTS3 were set to 28985353; 28687807; 26446156
Primary lymphoedema v1.85 ADAMTS3 Sarah Leigh Tag watchlist was removed from gene: ADAMTS3.
Primary lymphoedema v1.85 ADAMTS3 Sarah Leigh Classified gene: ADAMTS3 as Green List (high evidence)
Primary lymphoedema v1.85 ADAMTS3 Sarah Leigh Added comment: Comment on list classification: Associate with phenotype in OMIM, but not in Gen2Phen. Three variants in two cases, together with supportive functional studies (PMID 30450763).
Primary lymphoedema v1.85 ADAMTS3 Sarah Leigh Gene: adamts3 has been classified as Green List (High Evidence).
Intellectual disability v2.974 KIF2A Catherine Snow Phenotypes for gene: KIF2A were changed from Cortical dysplasia, complex, with other brain malformations 3, 615411 to Cortical dysplasia, complex, with other brain malformations 3, 615411
Intellectual disability v2.973 KIF2A Catherine Snow Phenotypes for gene: KIF2A were changed from Cortical dysplasia, complex, with other brain malformations 3, 615411 to Cortical dysplasia, complex, with other brain malformations 3, 615411
Intellectual disability v2.973 KIF2A Catherine Snow Phenotypes for gene: KIF2A were changed from MALFORMATIONS OF CORTICAL DEVELOPMENT AND MICROCEPHALY. to Cortical dysplasia, complex, with other brain malformations 3, 615411
Primary lymphoedema v1.84 IKBKG Sarah Leigh changed review comment from: Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. ; to: Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 2 variants reported in 3 cases.
Primary lymphoedema v1.84 IKBKG Sarah Leigh changed review comment from: Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. ; to: Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P.
Primary lymphoedema v1.84 PIEZO1 Sarah Leigh changed review comment from: Comment when marking as ready: Associated with phenotype in OMIM, not in G2P / DD. At least 7 variants reported; to: Comment when marking as ready: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least 7 variants reported in Lymphatic malformation 6 616843
Primary lymphoedema v1.84 PIEZO1 Sarah Leigh Deleted their comment
Primary lymphoedema v1.84 PIEZO1 Sarah Leigh Added comment: Comment on phenotypes: Lymphatic malformation 6 616843 was previously known as Lymphedema, hereditary, III 616843
Primary lymphoedema v1.84 PIEZO1 Sarah Leigh Phenotypes for gene: PIEZO1 were changed from Lymphedema, hereditary, III 616843; Generalised lymphatic dysplasia to Dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 194380; Lymphatic malformation 6 616843
Mitochondrial DNA maintenance disorder v0.11 TOP3A Ellen McDonagh Marked gene: TOP3A as ready
Mitochondrial DNA maintenance disorder v0.11 TOP3A Ellen McDonagh Gene: top3a has been classified as Green List (High Evidence).
Mitochondrial DNA maintenance disorder v0.11 TOP3A Ellen McDonagh Classified gene: TOP3A as Green List (high evidence)
Mitochondrial DNA maintenance disorder v0.11 TOP3A Ellen McDonagh Added comment: Comment on list classification: Update recieved from Carl Fratter on 24th July 2019 on behalf of the NHSE GMS Mitochondrial Specialist Group: After overall review by the GMS mitochondrial specialist test group, this gene was agreed to be Green on this panel, as the Newcastle team are aware of another unrelated case, and it was made Green with agreement from the group on the Possible mitochondrial disorder - nuclear genes gene panel (code 539, version 0.206).
Mitochondrial DNA maintenance disorder v0.11 TOP3A Ellen McDonagh Gene: top3a has been classified as Green List (High Evidence).
Fetal anomalies v0.309 ALPL Rebecca Foulger Deleted their comment
Fetal anomalies v0.309 ALPL Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from BIALLELIC to 'BOTH monoallelic and biallelic' following advice by Anna de Burca (Genomics England clinical team). AD variant reported in Chandler et al (PMID:29595812) for Hypophosphatasia phenotype. OMIM lists AR inheritance for Hypophosphatasia, infantile/Hypophosphatasia, childhood. And AD/AR for Hypophosphatasia, adult and Odontohypophosphatasia.
Fetal anomalies v0.309 ALPL Rebecca Foulger Mode of inheritance for gene: ALPL was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.308 ALPL Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from BIALLELIC to 'BOTH monoallelic and biallelic' following advice by Anna de Burca (Genomics England clinical team). AD variant reported in Chandler et al (PMID:29595812) for Hypophosphatasia phenotype. OMIM lists AR inheritance for Hypophosphatasia, infantile/Hypophosphatasia, childhood. And AD/AR for Hypophosphatasia, adult and Odontohypophosphatasia.
Fetal anomalies v0.308 ALPL Rebecca Foulger Mode of inheritance for gene: ALPL was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.307 ACTA1 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from BIALLELIC to 'BOTH monoallelic and biallelic' following review from Anna de Burca.
Fetal anomalies v0.307 ACTA1 Rebecca Foulger Mode of inheritance for gene: ACTA1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.97 GIGYF2 Louise Daugherty Publications for gene: GIGYF2 were set to 20044296; 26134514; 18923002; 19279319; 19250854; 19321232; 20060621; 19449032; 201788319; 18358451; 19429085; 20685231; 19482505
Adult onset neurodegenerative disorder v1.96 GIGYF2 Louise Daugherty Mode of inheritance for gene: GIGYF2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.95 GCDH Louise Daugherty Phenotypes for gene: GCDH were changed from Dystonia to Dystonia; Glutaricaciduria, type I, 231670
Adult onset neurodegenerative disorder v1.94 GCDH Louise Daugherty Mode of inheritance for gene: GCDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.93 HTRA1 Louise Daugherty Mode of inheritance for gene: HTRA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.92 HTRA1 Louise Daugherty Phenotypes for gene: HTRA1 were changed from Dementia to Dementia; CARASIL syndrome 600142; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 616779
Adult onset neurodegenerative disorder v1.91 BCAP31 Louise Daugherty Mode of inheritance for gene: BCAP31 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.90 TREM2 Louise Daugherty Mode of inheritance for gene: TREM2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.89 SLC20A2 Louise Daugherty Phenotypes for gene: SLC20A2 were changed from Dystonia to Dystonia; Basal ganglia calcification, idiopathic, 1, 158378
Adult onset neurodegenerative disorder v1.88 SLC20A2 Louise Daugherty Mode of inheritance for gene: SLC20A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.87 PDGFRB Louise Daugherty Phenotypes for gene: PDGFRB were changed from Dystonia to Dystonia; Basal ganglia calcification, idiopathic, 4, 615007
Adult onset neurodegenerative disorder v1.86 PDGFRB Louise Daugherty Mode of inheritance for gene: PDGFRB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.85 KIAA1161 Louise Daugherty Phenotypes for gene: KIAA1161 were changed from to Autosomal Recessive Primary Familial Brain Calcification
Adult onset neurodegenerative disorder v1.84 KIAA1161 Louise Daugherty Mode of inheritance for gene: KIAA1161 was changed from to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.83 CCNF Louise Daugherty Phenotypes for gene: CCNF were changed from to Frontotemporal dementia / amyotrophic lateral sclerosis
Adult onset neurodegenerative disorder v1.82 CCNF Louise Daugherty Mode of inheritance for gene: CCNF was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.81 XPR1 Louise Daugherty Publications for gene XPR1 were changed from to 26231937; 25938945
Adult onset neurodegenerative disorder v1.81 WDR45 Louise Daugherty Publications for gene WDR45 were changed from to 23176820; 23435086
Adult onset neurodegenerative disorder v1.81 VRK1 Louise Daugherty Publications for gene VRK1 were changed from to 26583493
Adult onset neurodegenerative disorder v1.81 VCP Louise Daugherty Publications for gene VCP were changed from 26511028; 25618255; 27178390; 25457024; 23881933; 25492614 to 26511028; 23498975; 27178390; 25492614; 21145000; 23881933; 25618255; 25457024
Adult onset neurodegenerative disorder v1.81 VAPB Louise Daugherty Publications for gene VAPB were changed from to 18555774; 15372378
Adult onset neurodegenerative disorder v1.81 UBQLN2 Louise Daugherty Publications for gene UBQLN2 were changed from to 23541532; 21857683
Adult onset neurodegenerative disorder v1.81 TYROBP Louise Daugherty Publications for gene TYROBP were changed from 15049507 to 12370476; 15049507; 10888890
Adult onset neurodegenerative disorder v1.81 TWNK Louise Daugherty Publications for gene TWNK were changed from to 19513767
Adult onset neurodegenerative disorder v1.81 TUBB4A Louise Daugherty Publications for gene TUBB4A were changed from PMID: 25497598; 27809427 to 25374358; 27809427; 25497598
Adult onset neurodegenerative disorder v1.81 TTC19 Louise Daugherty Publications for gene TTC19 were changed from to 23532514; 21278747
Adult onset neurodegenerative disorder v1.81 TREM2 Louise Daugherty Publications for gene TREM2 were changed from to 23318515; 15883308
Adult onset neurodegenerative disorder v1.81 TMEM240 Louise Daugherty Publications for gene TMEM240 were changed from to 25070513; 18418688
Adult onset neurodegenerative disorder v1.81 TARDBP Louise Daugherty Publications for gene TARDBP were changed from 23881933; 20697052 to 23881933; 19379745; 20697052; 18372902
Adult onset neurodegenerative disorder v1.81 TAF1 Louise Daugherty Publications for gene TAF1 were changed from PMID: 12928496; PMID: 26637982; 17273961; PMID: 26879577; PMID: 17273961; 12928496; PMID: 26769797; 17668393; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 20301662; 26637982; PMID: 23184149; PMID: 2368812 to 11714101; 20301662; 26769797; 2368812; 12928496; 26637982; 17273961; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 17668393; 23184149; 26879577
Adult onset neurodegenerative disorder v1.81 SYNE1 Louise Daugherty Publications for gene SYNE1 were changed from to 27197992; 25681989; 27086870
Adult onset neurodegenerative disorder v1.81 STUB1 Louise Daugherty Publications for gene STUB1 were changed from to 25592071; 30381368
Adult onset neurodegenerative disorder v1.81 SQSTM1 Louise Daugherty Publications for gene SQSTM1 were changed from to 22084127; 22972638
Adult onset neurodegenerative disorder v1.81 SPG21 Louise Daugherty Publications for gene SPG21 were changed from Simpson et al. (2003) to 14564668; 28752238; 24451228
Adult onset neurodegenerative disorder v1.81 SPG11 Louise Daugherty Publications for gene SPG11 were changed from 19224311; 27820618; Stevanin et al. (2007); 21381113 to 21381113; 22554690; 19224311; 18067136; 27820618)
Adult onset neurodegenerative disorder v1.81 SPAST Louise Daugherty Publications for gene SPAST were changed from Hazan et al (1999) to 25700176; 16240363
Adult onset neurodegenerative disorder v1.81 SOD1 Louise Daugherty Publications for gene SOD1 were changed from 23687121 to 23687121; 24501761; 25439728
Adult onset neurodegenerative disorder v1.81 SNCB Louise Daugherty Publications for gene SNCB were changed from to 15365127; 21045828
Adult onset neurodegenerative disorder v1.81 SLC6A3 Louise Daugherty Publications for gene SLC6A3 were changed from PMID: 24613933 to 24613933; 21777827; 19478460
Adult onset neurodegenerative disorder v1.81 SLC39A14 Louise Daugherty Publications for gene SLC39A14 were changed from to 27231142
Adult onset neurodegenerative disorder v1.81 SLC30A10 Louise Daugherty Publications for gene SLC30A10 were changed from 25778823; 22341972; 22934317; 22926781; 22341971 to 22926781; 22341972; 22934317; 30272946; 22341971; 25778823
Adult onset neurodegenerative disorder v1.81 SLC20A2 Louise Daugherty Publications for gene SLC20A2 were changed from to 24065723; 24135862
Adult onset neurodegenerative disorder v1.81 SIGMAR1 Louise Daugherty Publications for gene SIGMAR1 were changed from PMID: 26078401 - c.151+1G>T variant in SIGMARI resulted in a 60 bp deletion in the transcript, and segrated with the distal hereditary motor neuropathy in a Chinese family.; PubMed: 21842496 - E102Q variant identified in a Saudi Arabian family to be associated with amyotrophic lateral sclerosis 16, juvenile; PMID: 26088964 is a commentary on PMID: 25678561 raising a lack of evidence for SIGMARI to be pathogenic, and that previous reports of patients with SIGMARI variants were also shown to harbour C9orf72 expansions; PMID: 26088963 - in reply, authors state that there is in vitro and in vivo evidence, and expression evidence, and that a case reported did not have the C9orf72 expansion; PMID: 26205306 one family report for association with Amyotrophic lateral sclerosis and c.672*31A>G (rs4879809) - the C9ORF72 repeat region in intron 1, previously implicated in a related phenotype, was excluded through linkage, and further confirmation of exclusion was obtained by amplifying intron 1 of C9ORF72 with multiple primers in affected individuals and controls to 26088964; 26078401; 21031579; 26088963; 21842496; 27821430
Adult onset neurodegenerative disorder v1.81 SGCE Louise Daugherty Publications for gene SGCE were changed from 11528394; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 12325078 to 12325078; 11528394; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 23332219; 22626943
Adult onset neurodegenerative disorder v1.81 SETX Louise Daugherty Publications for gene SETX were changed from 22577233; 23129421; 23881933 (putative disease causing variants reported in Table 1). to 15106121; 23129421; 22577233; 23881933; 21438761
Adult onset neurodegenerative disorder v1.81 RNF216 Louise Daugherty Publications for gene RNF216 were changed from to 11932290; 23656588
Adult onset neurodegenerative disorder v1.81 RAB39B Louise Daugherty Publications for gene RAB39B were changed from 26399558; 27066548; 27459931; 2639955; 25434005; 27694831 to 27066548; 27694831; 26399558; 27459931; 28851564; 2639955; 25434005
Adult onset neurodegenerative disorder v1.81 PSEN2 Louise Daugherty Publications for gene PSEN2 were changed from 22503161; 23028126 to 7638622; 23028126; 12925374; 22503161
Adult onset neurodegenerative disorder v1.81 PSEN1 Louise Daugherty Publications for gene PSEN1 were changed from 22503161; 23028126 to 16033913; 23028126; 7596406; 22503161
Adult onset neurodegenerative disorder v1.81 PRNP Louise Daugherty Publications for gene PRNP were changed from 20583301; 26791950 to 20583301; 10953183; 26791950; 16831973
Adult onset neurodegenerative disorder v1.81 PRKRA Louise Daugherty Publications for gene PRKRA were changed from 18420150 - a novel heterozygous variant c.266_267delAT; 25914261; 26990861; 22842711; 24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation; 25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism; 22842711 describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa; 18243799; 25142429; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 18420150; p.H89fsX20 was reported in a proband with early childhood-onset leg dystonia (though testing in the parents was not mentioned).; 24142417; 25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous; PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previoulsy reported cases. The Authors state Screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance; 18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L); 25737287 to 24142417; 25737287 26990861; 18420150.; 25914261; 25737287; 18243799; 26990861; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 18420150; 22842711; 25142429
Adult onset neurodegenerative disorder v1.81 PRKN Louise Daugherty Publications for gene PRKN were changed from PMID: 22956510 to 22956510; 12056932; 9560156
Adult onset neurodegenerative disorder v1.81 PRKCG Louise Daugherty Publications for gene PRKCG were changed from to 29603387; 12644968
Adult onset neurodegenerative disorder v1.81 PNPLA6 Louise Daugherty Publications for gene PNPLA6 were changed from Rainier et al. (2008) to 24355708; 18313024; 29749493
Adult onset neurodegenerative disorder v1.81 PLA2G6 Louise Daugherty Publications for gene PLA2G6 were changed from to 16783378; 18799783
Adult onset neurodegenerative disorder v1.81 PINK1 Louise Daugherty Publications for gene PINK1 were changed from 15087508 to 15087508; 15349870
Adult onset neurodegenerative disorder v1.81 PFN1 Louise Daugherty Publications for gene PFN1 were changed from to 24920614; 22801503
Adult onset neurodegenerative disorder v1.81 PDYN Louise Daugherty Publications for gene PDYN were changed from to 15306549; 21035104
Adult onset neurodegenerative disorder v1.81 PDGFRB Louise Daugherty Publications for gene PDGFRB were changed from to 24065723; 24796542
Adult onset neurodegenerative disorder v1.81 PDGFB Louise Daugherty Publications for gene PDGFB were changed from to 29955172; 23913003
Adult onset neurodegenerative disorder v1.81 PARK7 Louise Daugherty Publications for gene PARK7 were changed from to 11462174; 12446870
Adult onset neurodegenerative disorder v1.81 PANK2 Louise Daugherty Publications for gene PANK2 were changed from to 15911822; 11479594
Adult onset neurodegenerative disorder v1.81 OPTN Louise Daugherty Publications for gene OPTN were changed from 20428114 to 26303227; 26203661; 25943890; 25859013; 23889540; 20428114; 25681989
Adult onset neurodegenerative disorder v1.81 NR4A2 Louise Daugherty Publications for gene NR4A2 were changed from 25543265; 12827450; 12496759; 24126627; 27012974; 15184637; 15390059; 15276233 to 24126627; 15390059; 15184637; 25543265; 27012974; 19429166; 15276233; 12827450; 28385514; 16532445; 12496759
Adult onset neurodegenerative disorder v1.81 MARS2 Louise Daugherty Publications for gene MARS2 were changed from PubMed: 22448145 to 22448145; 16672289
Adult onset neurodegenerative disorder v1.81 MAPT Louise Daugherty Publications for gene MAPT were changed from 20301678; 28334843 to 9641683; 9789048; 28334843; 20301678
Adult onset neurodegenerative disorder v1.81 LRRK2 Louise Daugherty Publications for gene LRRK2 were changed from 28395804; 28395803; 25391693; 27090875; 28395805; 28395802 to 7898705; 28395802; 25391693; 27090875; 28395803; 28395805; 28395804; 15541308
Adult onset neurodegenerative disorder v1.81 KIF5A Louise Daugherty Publications for gene KIF5A were changed from Reid et al. (2002) to 29954873; 29566793
Adult onset neurodegenerative disorder v1.81 KIAA1161 Louise Daugherty Publications for gene KIAA1161 were changed from to 30656188; 29910000
Adult onset neurodegenerative disorder v1.81 KCNC3 Louise Daugherty Publications for gene KCNC3 were changed from to 16501573
Adult onset neurodegenerative disorder v1.81 ITM2B Louise Daugherty Publications for gene ITM2B were changed from to 29525180; 10391242
Adult onset neurodegenerative disorder v1.81 HTRA1 Louise Daugherty Publications for gene HTRA1 were changed from to 19387015; 24500651
Adult onset neurodegenerative disorder v1.81 HSPD1 Louise Daugherty Publications for gene HSPD1 were changed from Hansen et al. (2002) to 18571143; 11898127
Adult onset neurodegenerative disorder v1.81 HNRNPA1 Louise Daugherty Publications for gene HNRNPA1 were changed from to 23455423
Adult onset neurodegenerative disorder v1.81 HFE Louise Daugherty Publications for gene HFE were changed from to 17828789
Adult onset neurodegenerative disorder v1.81 HEXB Louise Daugherty Publications for gene HEXB were changed from to 20798201; 24263030
Adult onset neurodegenerative disorder v1.81 HEXA Louise Daugherty Publications for gene HEXA were changed from to 28739864; 27033294
Adult onset neurodegenerative disorder v1.81 GFAP Louise Daugherty Publications for gene GFAP were changed from to 26023202; 29095329
Adult onset neurodegenerative disorder v1.81 GCH1 Louise Daugherty Publications for gene GCH1 were changed from 24509643; 21935284; http://www.ncbi.nlm.nih.gov/books/NBK1155/ to 25497597; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 24509643; 24993959; 21935284
Adult onset neurodegenerative disorder v1.81 GCDH Louise Daugherty Publications for gene GCDH were changed from to 23884036; 26316201
Adult onset neurodegenerative disorder v1.81 GBA Louise Daugherty Publications for gene GBA were changed from 29400127; 27779773; 27632223; 27648471; 27717005 to 29400127; 27779773; 15525722; 17620502; 27648471; 27632223; 27717005
Adult onset neurodegenerative disorder v1.81 FUS Louise Daugherty Publications for gene FUS were changed from to 19251627; 19251628
Adult onset neurodegenerative disorder v1.81 FOLR1 Louise Daugherty Publications for gene FOLR1 were changed from to 11438811; 12746423
Adult onset neurodegenerative disorder v1.81 FMR1 Louise Daugherty Publications for gene FMR1 were changed from to 28176767
Adult onset neurodegenerative disorder v1.81 FIG4 Louise Daugherty Publications for gene FIG4 were changed from PMID: 19118816 to 19118816; 23888880
Adult onset neurodegenerative disorder v1.81 FGF14 Louise Daugherty Publications for gene FGF14 were changed from to 16211615
Adult onset neurodegenerative disorder v1.81 FBXO7 Louise Daugherty Publications for gene FBXO7 were changed from to 18513678; 19038853
Adult onset neurodegenerative disorder v1.81 ERCC6 Louise Daugherty Publications for gene ERCC6 were changed from to 18185538
Adult onset neurodegenerative disorder v1.81 ERBB4 Louise Daugherty Publications for gene ERBB4 were changed from to 24119685
Adult onset neurodegenerative disorder v1.81 ELOVL5 Louise Daugherty Publications for gene ELOVL5 were changed from to 25065913
Adult onset neurodegenerative disorder v1.81 ELOVL4 Louise Daugherty Publications for gene ELOVL4 were changed from 24566826; 26010696 to 5048218; 26010696; 24566826
Adult onset neurodegenerative disorder v1.81 EIF4G1 Louise Daugherty Publications for gene EIF4G1 were changed from to 21907011
Adult onset neurodegenerative disorder v1.81 EIF2B5 Louise Daugherty Publications for gene EIF2B5 were changed from to 11835386; 11704758
Adult onset neurodegenerative disorder v1.81 EIF2B4 Louise Daugherty Publications for gene EIF2B4 were changed from to 11835386; 11704758
Adult onset neurodegenerative disorder v1.81 EIF2B3 Louise Daugherty Publications for gene EIF2B3 were changed from to 11835386; 11704758
Adult onset neurodegenerative disorder v1.81 EIF2B2 Louise Daugherty Publications for gene EIF2B2 were changed from to 11835386; 11704758
Adult onset neurodegenerative disorder v1.81 EIF2B1 Louise Daugherty Publications for gene EIF2B1 were changed from to 11835386; 11704758
Adult onset neurodegenerative disorder v1.81 DNMT1 Louise Daugherty Publications for gene DNMT1 were changed from 23365052 to 23365052; 8747854; 22328086
Adult onset neurodegenerative disorder v1.81 DNAJC6 Louise Daugherty Publications for gene DNAJC6 were changed from 22563501; 26528954; 23211418; 26703368; 27687717 to 23211418; 27687717; 26528954; 22563501; 26703368
Adult onset neurodegenerative disorder v1.81 DNAJC5 Louise Daugherty Publications for gene DNAJC5 were changed from 27604308; 21820099 to 21820099; 27604308; 26610600; 22073189
Adult onset neurodegenerative disorder v1.81 DCTN1 Louise Daugherty Publications for gene DCTN1 were changed from 20945553 (Gene Reviews); 24343258; 20437543; 19136952; 27132499; 27346608; 26954557; 25109764 to 26954557; 25109764; 20437543; 24343258; 27132499; 20945553 (Gene Reviews); 27346608; 19136952
Adult onset neurodegenerative disorder v1.81 DARS2 Louise Daugherty Publications for gene DARS2 were changed from to 19592391
Adult onset neurodegenerative disorder v1.81 CSF1R Louise Daugherty Publications for gene CSF1R were changed from 23787135 to 22197934; 23038421; 23787135
Adult onset neurodegenerative disorder v1.81 CP Louise Daugherty Publications for gene CP were changed from to 7708681; 3574673
Adult onset neurodegenerative disorder v1.81 COQ8A Louise Daugherty Publications for gene COQ8A were changed from to 24048965; 29915382
Adult onset neurodegenerative disorder v1.81 COASY Louise Daugherty Publications for gene COASY were changed from 27021474 to 27021474; 28489334; 24360804
Adult onset neurodegenerative disorder v1.81 CLN6 Louise Daugherty Publications for gene CLN6 were changed from to 26115733; 30561534
Adult onset neurodegenerative disorder v1.81 CHMP2B Louise Daugherty Publications for gene CHMP2B were changed from 20352044 to 16041373; 20352044; 17956895
Adult onset neurodegenerative disorder v1.81 CHCHD2 Louise Daugherty Publications for gene CHCHD2 were changed from 26067110; Funayama, M., Ohe, K., Amo, T., Furuya, N., Yamaguchi, J., Saiki, S., Li, Y., Ogaki, K., Ando, M., Yoshino, H., Tomiyama, H., Nishioka, K., and 12 others. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14: 274-282, 2015; 25662902; 26067114 to Funayama, M., Ohe, K., Amo, T., Furuya, N., Yamaguchi, J., Saiki, S., Li, Y., Ogaki, K., Ando, M., Yoshino, H., Tomiyama, H., Nishioka, K., and 12 others. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14: 274-282, 2015; 25662902; 26067114; 26705026; 26067110
Adult onset neurodegenerative disorder v1.81 CHCHD10 Louise Daugherty Publications for gene CHCHD10 were changed from 30014597; 25113787; 24934289 to 25113787; 30014597; 27810918; 25576308; 24934289
Adult onset neurodegenerative disorder v1.81 CCDC88C Louise Daugherty Publications for gene CCDC88C were changed from PMID: 25062847 to 25062847; 30398676
Adult onset neurodegenerative disorder v1.81 CACNA1G Louise Daugherty Publications for gene CACNA1G were changed from to 26715324; 26456284
Adult onset neurodegenerative disorder v1.81 C19orf12 Louise Daugherty Publications for gene C19orf12 were changed from Landoure (2013) to 23278385; Landoure (2013)
Adult onset neurodegenerative disorder v1.81 AUH Louise Daugherty Publications for gene AUH were changed from to 20855850
Adult onset neurodegenerative disorder v1.81 ATP7B Louise Daugherty Publications for gene ATP7B were changed from 20301685 to 29213604; 20301685
Adult onset neurodegenerative disorder v1.81 ATP1A3 Louise Daugherty Publications for gene ATP1A3 were changed from 22850527; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22842232 to 22850527; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 15260953; 22842232
Adult onset neurodegenerative disorder v1.81 ATP13A2 Louise Daugherty Publications for gene ATP13A2 were changed from 28137957; 27217339 to 21060012; 16964263; 27217339; 28137957
Adult onset neurodegenerative disorder v1.81 APTX Louise Daugherty Publications for gene APTX were changed from to 14506070
Adult onset neurodegenerative disorder v1.81 APP Louise Daugherty Publications for gene APP were changed from 22503161; 23028126 to 2111584; 23028126; 22503161
Adult onset neurodegenerative disorder v1.81 ANO10 Louise Daugherty Publications for gene ANO10 were changed from to 25182700
Adult onset neurodegenerative disorder v1.81 ANG Louise Daugherty Publications for gene ANG were changed from PMID: 26255299 - meta-analysis concluding that the K17I variant increases the risk for ALS and familial ALS but not sporadic ALS in Caucasian patients; PMID: 25372031 functional investigation of ANG variants.; PMID: 25907842 - 31 Chinese Han families with familial amyotrophic lateral sclerosis were screened but no ANG gene variants were found, suggesting it is a rare cause of ALS in this population; PMID: 26753798 - meta-analysis reporting that the rs11701 SNP is not associated with ALS to 16501576; 26753798; 17886298; 26255299
Adult onset neurodegenerative disorder v1.81 ALS2 Louise Daugherty Publications for gene ALS2 were changed from 12145748; 23881933; 25474699; 24503148 to 23881933; 24503148; 25474699; 12145748; 11586298
Adult onset neurodegenerative disorder v1.81 ABHD12 Louise Daugherty Publications for gene ABHD12 were changed from to 20797687
Adult onset neurodegenerative disorder v1.80 SIGMAR1 Louise Daugherty Deleted their comment
Adult onset neurodegenerative disorder v1.80 SIGMAR1 Louise Daugherty commented on gene: SIGMAR1: PMID: 26078401 - c.151+1G>T variant in SIGMARI resulted in a 60 bp deletion in the transcript, and segrated with the distal hereditary motor neuropathy in a Chinese family.;PubMed: 21842496 - E102Q variant identified in a Saudi Arabian family to be associated with amyotrophic lateral sclerosis 16, juvenile;PMID: 26088964 is a commentary on PMID: 25678561 raising a lack of evidence for SIGMARI to be pathogenic, and that previous reports of patients with SIGMARI variants were also shown to harbour C9orf72 expansions;PMID: 26088963 - in reply, authors state that there is in vitro and in vivo evidence, and expression evidence, and that a case reported did not have the C9orf72 expansion;PMID: 26205306 one family report for association with Amyotrophic lateral sclerosis and c.672*31A>G (rs4879809) - the C9ORF72 repeat region in intron 1, previously implicated in a related phenotype, was excluded through linkage, and further confirmation of exclusion was obtained by amplifying intron 1 of C9ORF72 with multiple primers in affected individuals and controls
Adult onset neurodegenerative disorder v1.80 PRKRA Louise Daugherty changed review comment from: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.

Panel Version: 1.74

Edit your comment Delete comment
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 5:35 p.m.; to: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.

Panel Version: 1.74

Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 5:35 p.m.
Adult onset neurodegenerative disorder v1.80 PRKRA Louise Daugherty edited their review of gene: PRKRA: Changed rating: AMBER
Adult onset neurodegenerative disorder v1.80 PRKRA Louise Daugherty changed review comment from: 18420150 - a novel heterozygous variant c.266_267delAT;25914261;26990861;22842711;24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation;25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism;22842711 describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa;18243799;25142429;http://www.ncbi.nlm.nih.gov/books/NBK1155/;18420150;p.H89fsX20 was reported in a proband with early childhood-onset leg dystonia (though testing in the parents was not mentioned).;24142417;25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous;PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previoulsy reported cases. The Authors state Screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance;18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L);25737287; to: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.

Panel Version: 1.74

Edit your comment Delete comment
Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 23 Apr 2019, 5:35 p.m.
Adult onset neurodegenerative disorder v1.80 PRKRA Louise Daugherty commented on gene: PRKRA
Adult onset neurodegenerative disorder v1.80 PRKRA Louise Daugherty Deleted their review
Adult onset neurodegenerative disorder v1.80 PRKRA Louise Daugherty commented on gene: PRKRA: 18420150 - a novel heterozygous variant c.266_267delAT;25914261;26990861;22842711;24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation;25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism;22842711 describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa;18243799;25142429;http://www.ncbi.nlm.nih.gov/books/NBK1155/;18420150;p.H89fsX20 was reported in a proband with early childhood-onset leg dystonia (though testing in the parents was not mentioned).;24142417;25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous;PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previoulsy reported cases. The Authors state Screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance;18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L);25737287
Adult onset neurodegenerative disorder v1.80 PINK1 Louise Daugherty Publications for gene: PINK1 were set to Parkinson disease 6, early onset
Adult onset neurodegenerative disorder v1.79 OPTN Louise Daugherty commented on gene: OPTN: PMID: 25943890;(iii) It is not uncommon for multiple ALS-causing mutations to occur in the same patient;(ii) optineurin protein is present in a subset of the extramotor inclusions of C9ORF72-ALS;PMID: 26203661;PMID: 25859013 - functional evidence;PMID: 25681989;PMID: 26303227 We conclude that: (i) OPTN mutations are associated with ALS;PMID: 26503823;PMID: 26566915 - Here, we report a Chinese family spanning three generations with ALS8 caused by the same VAPB-P56S mutation detected in these cohorts, but which in its initial manifestation displays different features. We also detected a R545Q variant of optineurin (OPTN) in this family and which was previously considered a pathogenic mutation. However, our analysis showed that OPTN-R545Q is benign and that VAPB-P56S accounts for the phenotype.;and (iv) studies of optineurin are likely to provide useful dataregarding the pathophysiology of ALS and neurodegeneration.
Adult onset neurodegenerative disorder v1.79 OPTN Louise Daugherty Publications for gene: OPTN were set to PMID: 25943890; (iii) It is not uncommon for multiple ALS-causing mutations to occur in the same patient; (ii) optineurin protein is present in a subset of the extramotor inclusions of C9ORF72-ALS; PMID: 26203661; PMID: 25859013 - functional evidence; PMID: 25681989; PMID: 26303227 We conclude that: (i) OPTN mutations are associated with ALS; PMID: 26503823; PMID: 26566915 - Here, we report a Chinese family spanning three generations with ALS8 caused by the same VAPB-P56S mutation detected in these cohorts, but which in its initial manifestation displays different features. We also detected a R545Q variant of optineurin (OPTN) in this family and which was previously considered a pathogenic mutation. However, our analysis showed that OPTN-R545Q is benign and that VAPB-P56S accounts for the phenotype.; and (iv) studies of optineurin are likely to provide useful dataregarding the pathophysiology of ALS and neurodegeneration.
Adult onset neurodegenerative disorder v1.78 CHMP2B Louise Daugherty commented on gene: CHMP2B: Comment: - PMID: 20352044 conclude that in a population drawn from North of England pathogenic CHMP2B mutations are found in approximately 1% of cases of ALS and 10% of those with lower motor neuron predominant ALS. We provide a body of evidence indicating the likely pathogenicity of the reported gene alterations. However, absolute confirmation of pathogenicity requires further evidence, including documentation of familial transmission in ALS pedigrees which might be most fruitfully explored in cases with a LMN predominant phenotype.
Adult onset neurodegenerative disorder v1.78 CHMP2B Louise Daugherty changed review comment from: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment: - We conclude that in a population drawn from North of England pathogenic CHMP2B mutations are found in approximately 1% of cases of ALS and 10% of those with lower motor neuron predominant ALS. We provide a body of evidence indicating the likely pathogenicity of the reported gene alterations. However, absolute confirmation of pathogenicity requires further evidence, including documentation of familial transmission in ALS pedigrees which might be most fruitfully explored in cases with a LMN predominant phenotype.; to: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.78 CHMP2B Louise Daugherty changed review comment from: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.; to: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group. Comment: - We conclude that in a population drawn from North of England pathogenic CHMP2B mutations are found in approximately 1% of cases of ALS and 10% of those with lower motor neuron predominant ALS. We provide a body of evidence indicating the likely pathogenicity of the reported gene alterations. However, absolute confirmation of pathogenicity requires further evidence, including documentation of familial transmission in ALS pedigrees which might be most fruitfully explored in cases with a LMN predominant phenotype.
Adult onset neurodegenerative disorder v1.78 CHMP2B Louise Daugherty Publications for gene: CHMP2B were set to PMID: 20352044 - We conclude that in a population drawn from North of England pathogenic CHMP2B mutations are found in approximately 1% of cases of ALS and 10% of those with lower motor neuron predominant ALS. We provide a body of evidence indicating the likely pathogenicity of the reported gene alterations. However, absolute confirmation of pathogenicity requires further evidence, including documentation of familial transmission in ALS pedigrees which might be most fruitfully explored in cases with a LMN predominant phenotype.
Adult onset neurodegenerative disorder v1.77 ATXN10_CAG Louise Daugherty Classified STR: ATXN10_CAG as No list
Adult onset neurodegenerative disorder v1.77 ATXN10_CAG Louise Daugherty Added comment: Comment on list classification: remove - error in upload
Adult onset neurodegenerative disorder v1.77 ATXN10_CAG Louise Daugherty Str: atxn10_cag has been removed from the panel.
Adult onset neurodegenerative disorder v1.76 ATXN1_ATTCT Louise Daugherty Classified STR: ATXN1_ATTCT as No list
Adult onset neurodegenerative disorder v1.76 ATXN1_ATTCT Louise Daugherty Added comment: Comment on list classification: remove error in upload
Adult onset neurodegenerative disorder v1.76 ATXN1_ATTCT Louise Daugherty Str: atxn1_attct has been removed from the panel.
Adult onset neurodegenerative disorder v1.75 TBP_CAG Louise Daugherty edited their review of STR: TBP_CAG: Added comment: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice. Comment : Median age at onset 23 years, progressive; Set current diagnostic: yes
Adult onset neurodegenerative disorder v1.75 PPP2R2B_CAG Louise Daugherty commented on STR: PPP2R2B_CAG: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice. Comment: Age at onset 8 to 55 years (mean 40 years)
Adult onset neurodegenerative disorder v1.75 NOP56_GGCCTG Louise Daugherty commented on STR: NOP56_GGCCTG: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are NOT reported as part of the current diagnostic practice. Comment: Patients with longer disease duration show motor neuron involvement.
Adult onset neurodegenerative disorder v1.75 JPH3_CTG Louise Daugherty commented on STR: JPH3_CTG: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are NOT reported as part of the current diagnostic practice. Comment: Mean age of onset 35-40 years.
Adult onset neurodegenerative disorder v1.75 HTT_CAG Louise Daugherty commented on STR: HTT_CAG: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice.
Adult onset neurodegenerative disorder v1.75 FXN_GAA Louise Daugherty edited their review of STR: FXN_GAA: Added comment: Red rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are NOT reported as part of the current diagnostic practice. Comment: Neurodegeneration not feature of disease.; Changed rating: RED
Adult onset neurodegenerative disorder v1.75 CSTB_CCCCGCCCCGCG Louise Daugherty edited their review of STR: CSTB_CCCCGCCCCGCG: Changed rating: RED
Adult onset neurodegenerative disorder v1.75 CSTB_CCCCGCCCCGCG Louise Daugherty edited their review of STR: CSTB_CCCCGCCCCGCG: Added comment: Red rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are NOT reported as part of the current diagnostic practice.; Changed rating: AMBER
Adult onset neurodegenerative disorder v1.75 CACNA1A_CAG Louise Daugherty edited their review of STR: CACNA1A_CAG: Added comment: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice. Comment: Age of onset 20-65 years; Set current diagnostic: yes
Adult onset neurodegenerative disorder v1.75 C9orf72_GGGGCC Louise Daugherty commented on STR: C9orf72_GGGGCC: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice. Comment: Onset in adulthood, rapidly progressive
Adult onset neurodegenerative disorder v1.75 ATXN7_CAG Louise Daugherty edited their review of STR: ATXN7_CAG: Added comment: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice.; Set current diagnostic: yes
Adult onset neurodegenerative disorder v1.75 ATXN3_CAG Louise Daugherty commented on STR: ATXN3_CAG: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice.
Adult onset neurodegenerative disorder v1.75 ATXN2_CAG Louise Daugherty commented on STR: ATXN2_CAG: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice.
Adult onset neurodegenerative disorder v1.75 ATXN1_CAG Louise Daugherty edited their review of STR: ATXN1_CAG: Added comment: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice.; Set current diagnostic: yes
Adult onset neurodegenerative disorder v1.75 ATXN10_ATTCT Louise Daugherty edited their review of STR: ATXN10_ATTCT: Added comment: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice.; Set current diagnostic: yes
Adult onset neurodegenerative disorder v1.75 ATN1_CAG Louise Daugherty commented on STR: ATN1_CAG: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice.
Adult onset neurodegenerative disorder v1.75 AR_CAG Louise Daugherty commented on STR: AR_CAG: Green rating for STR submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated that variants are reported as part of the current diagnostic practice.
Adult onset neurodegenerative disorder v1.75 ISCA-37468-Loss Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Adult onset neurodegenerative disorder v1.75 ISCA-37404-Loss Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Adult onset neurodegenerative disorder v1.75 ISCA-37468-Loss Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Adult onset neurodegenerative disorder v1.75 ISCA-37478-Gain Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Adult onset neurodegenerative disorder v1.75 ISCA-37478-Loss Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Adult onset neurodegenerative disorder v1.75 ISCA-37404-Loss Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Adult onset neurodegenerative disorder v1.75 ISCA-37468-Loss Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Adult onset neurodegenerative disorder v1.75 ISCA-37478-Gain Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Adult onset neurodegenerative disorder v1.75 ISCA-37478-Loss Louise Daugherty changed review comment from: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No; to: No rating for CNV region submitted on behalf of Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Adult onset neurodegenerative disorder v1.75 TBP_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: TBP_CAG.
Adult onset neurodegenerative disorder v1.75 PPP2R2B_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: PPP2R2B_CAG.
Adult onset neurodegenerative disorder v1.75 NOP56_GGCCTG Louise Daugherty Source Yorkshire and North East GLH was added to STR: NOP56_GGCCTG.
Adult onset neurodegenerative disorder v1.75 JPH3_CTG Louise Daugherty Source Yorkshire and North East GLH was added to STR: JPH3_CTG.
Adult onset neurodegenerative disorder v1.75 HTT_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: HTT_CAG.
Adult onset neurodegenerative disorder v1.75 FXN_GAA Louise Daugherty Source Yorkshire and North East GLH was added to STR: FXN_GAA.
Adult onset neurodegenerative disorder v1.75 CSTB_CCCCGCCCCGCG Louise Daugherty Source Yorkshire and North East GLH was added to STR: CSTB_CCCCGCCCCGCG.
Adult onset neurodegenerative disorder v1.75 CACNA1A_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: CACNA1A_CAG.
Adult onset neurodegenerative disorder v1.75 C9orf72_GGGGCC Louise Daugherty Source Yorkshire and North East GLH was added to STR: C9orf72_GGGGCC.
Adult onset neurodegenerative disorder v1.75 ATXN7_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: ATXN7_CAG.
Adult onset neurodegenerative disorder v1.75 ATXN3_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: ATXN3_CAG.
Adult onset neurodegenerative disorder v1.75 ATXN2_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: ATXN2_CAG.
Adult onset neurodegenerative disorder v1.75 ATXN1_ATTCT Louise Daugherty STR: ATXN1_ATTCT was added
STR: ATXN1_ATTCT was added to Neurodegenerative disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for STR: ATXN1_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN1_ATTCT were set to Spinocerebellar ataxia 1 164400
Adult onset neurodegenerative disorder v1.75 ATXN10_CAG Louise Daugherty STR: ATXN10_CAG was added
STR: ATXN10_CAG was added to Neurodegenerative disorders - adult onset. Sources: Yorkshire and North East GLH
Mode of inheritance for STR: ATXN10_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN10_CAG were set to Spinocerebellar ataxia 10 603516
Adult onset neurodegenerative disorder v1.75 ATN1_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: ATN1_CAG.
Adult onset neurodegenerative disorder v1.75 AR_CAG Louise Daugherty Source Yorkshire and North East GLH was added to STR: AR_CAG.
Adult onset neurodegenerative disorder v1.74 ISCA-37478-Loss Louise Daugherty commented on Region: ISCA-37478-Loss: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Adult onset neurodegenerative disorder v1.74 ISCA-37478-Gain Louise Daugherty commented on Region: ISCA-37478-Gain: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Adult onset neurodegenerative disorder v1.74 ISCA-37468-Loss Louise Daugherty commented on Region: ISCA-37468-Loss: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Adult onset neurodegenerative disorder v1.74 ISCA-37404-Loss Louise Daugherty commented on Region: ISCA-37404-Loss: No rating for CNV region submitted on behalf of Nick Nick Beuchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group. Indicated in comment for 'Do you report variants in this gene as part of your current diagnostic practice?': No
Intellectual disability v2.972 KIF2A Catherine Snow Publications for gene: KIF2A were set to 23603762; 21594994; 27747449; 27896282
Intellectual disability v2.971 KIF2A Catherine Snow Publications for gene: KIF2A were set to 23603762; 21594994; 27747449; 27896282
Intellectual disability v2.971 KIF2A Catherine Snow Publications for gene: KIF2A were set to 23603762; 21594994
Primary lymphoedema v1.83 HGF Sarah Leigh gene: HGF was added
gene: HGF was added to Primary lymphoedema. Sources: Expert list
Mode of inheritance for gene: HGF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary lymphoedema v1.83 MET Sarah Leigh gene: MET was added
gene: MET was added to Primary lymphoedema. Sources: Expert list
Mode of inheritance for gene: MET was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary lymphoedema v1.83 ADAMTS3 Sarah Leigh Source Expert list was added to ADAMTS3.
Primary lymphoedema v1.83 IKBKG Sarah Leigh Source Expert list was added to IKBKG.
Primary lymphoedema v1.83 VEGFC Sarah Leigh Mode of inheritance for gene VEGFC was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary lymphoedema v1.83 PIEZO1 Sarah Leigh Mode of inheritance for gene PIEZO1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Primary lymphoedema v1.83 EPHB4 Sarah Leigh Mode of inheritance for gene EPHB4 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary lymphoedema v1.83 NSD1 Sarah Leigh gene: NSD1 was added
gene: NSD1 was added to Primary lymphoedema. Sources: Expert list
Mode of inheritance for gene: NSD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary lymphoedema v1.83 RASA1 Sarah Leigh gene: RASA1 was added
gene: RASA1 was added to Primary lymphoedema. Sources: Expert list
Mode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary lymphoedema v1.83 ALG8 Sarah Leigh gene: ALG8 was added
gene: ALG8 was added to Primary lymphoedema. Sources: Expert list
Mode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal
Primary lymphoedema v1.83 MPI Sarah Leigh gene: MPI was added
gene: MPI was added to Primary lymphoedema. Sources: Expert list
Mode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal
Primary lymphoedema v1.83 PMM2 Sarah Leigh gene: PMM2 was added
gene: PMM2 was added to Primary lymphoedema. Sources: Expert list
Mode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal
Primary lymphoedema v1.83 TSC2 Sarah Leigh gene: TSC2 was added
gene: TSC2 was added to Primary lymphoedema. Sources: Expert list
Mode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary lymphoedema v1.83 TSC1 Sarah Leigh gene: TSC1 was added
gene: TSC1 was added to Primary lymphoedema. Sources: Expert list
Mode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Primary lymphoedema v1.83 CDH7 Sarah Leigh gene: CDH7 was added
gene: CDH7 was added to Primary lymphoedema. Sources: Expert list
Mode of inheritance for gene: CDH7 was set to
Primary lymphoedema v1.83 SHANK3 Sarah Leigh gene: SHANK3 was added
gene: SHANK3 was added to Primary lymphoedema. Sources: Expert list
Mode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.74 VPS13C Louise Daugherty reviewed gene: VPS13C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 DNAJC13 Louise Daugherty reviewed gene: DNAJC13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 COQ2 Louise Daugherty reviewed gene: COQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 TUBA4A Louise Daugherty reviewed gene: TUBA4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 TAF15 Louise Daugherty reviewed gene: TAF15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 PRPH Louise Daugherty reviewed gene: PRPH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 NEK1 Louise Daugherty reviewed gene: NEK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 MATR3 Louise Daugherty reviewed gene: MATR3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 HNRNPA2B1 Louise Daugherty reviewed gene: HNRNPA2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 EWSR1 Louise Daugherty reviewed gene: EWSR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 DAO Louise Daugherty reviewed gene: DAO: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 ARHGEF28 Louise Daugherty reviewed gene: ARHGEF28: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 ANXA11 Louise Daugherty reviewed gene: ANXA11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 SS18L1 Louise Daugherty reviewed gene: SS18L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 ZFYVE26 Louise Daugherty commented on gene: ZFYVE26: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 YY1 Louise Daugherty commented on gene: YY1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 XPR1 Louise Daugherty commented on gene: XPR1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 WWOX Louise Daugherty commented on gene: WWOX: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 WFS1 Louise Daugherty commented on gene: WFS1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 WDR81 Louise Daugherty commented on gene: WDR81: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 WDR73 Louise Daugherty commented on gene: WDR73: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 WDR45B Louise Daugherty commented on gene: WDR45B: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 WDR45 Louise Daugherty commented on gene: WDR45: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 WASHC5 Louise Daugherty commented on gene: WASHC5: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 VRK1 Louise Daugherty commented on gene: VRK1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 VPS53 Louise Daugherty reviewed gene: VPS53: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 VPS35 Louise Daugherty commented on gene: VPS35: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 VPS13D Louise Daugherty commented on gene: VPS13D: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 VPS13A Louise Daugherty commented on gene: VPS13A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 VLDLR Louise Daugherty commented on gene: VLDLR: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 VCP Louise Daugherty commented on gene: VCP: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 VAPB Louise Daugherty commented on gene: VAPB: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 VAMP1 Louise Daugherty commented on gene: VAMP1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 VAC14 Louise Daugherty commented on gene: VAC14: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 UBQLN2 Louise Daugherty commented on gene: UBQLN2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 TYROBP Louise Daugherty commented on gene: TYROBP: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 TWNK Louise Daugherty commented on gene: TWNK: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 TUBB4A Louise Daugherty commented on gene: TUBB4A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 TTPA Louise Daugherty commented on gene: TTPA: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 TTC19 Louise Daugherty commented on gene: TTC19: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 TTBK2 Louise Daugherty commented on gene: TTBK2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 TSEN54 Louise Daugherty commented on gene: TSEN54: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 TSEN2 Louise Daugherty commented on gene: TSEN2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 TREM2 Louise Daugherty commented on gene: TREM2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 TPP1 Louise Daugherty commented on gene: TPP1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 TOR1A Louise Daugherty commented on gene: TOR1A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 TMEM240 Louise Daugherty commented on gene: TMEM240: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 THAP1 Louise Daugherty commented on gene: THAP1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 TH Louise Daugherty commented on gene: TH: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 TGM6 Louise Daugherty commented on gene: TGM6: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 TBP Louise Daugherty reviewed gene: TBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 TBK1 Louise Daugherty commented on gene: TBK1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 TARDBP Louise Daugherty commented on gene: TARDBP: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 TAF1 Louise Daugherty commented on gene: TAF1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SYNJ1 Louise Daugherty commented on gene: SYNJ1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SYNE1 Louise Daugherty commented on gene: SYNE1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 STUB1 Louise Daugherty commented on gene: STUB1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SRD5A3 Louise Daugherty commented on gene: SRD5A3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SQSTM1 Louise Daugherty commented on gene: SQSTM1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SPTBN2 Louise Daugherty commented on gene: SPTBN2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SPR Louise Daugherty commented on gene: SPR: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SPG7 Louise Daugherty commented on gene: SPG7: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SPG21 Louise Daugherty commented on gene: SPG21: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SPG11 Louise Daugherty commented on gene: SPG11: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SPAST Louise Daugherty commented on gene: SPAST: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SPART Louise Daugherty commented on gene: SPART: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SOD1 Louise Daugherty commented on gene: SOD1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SNX14 Louise Daugherty commented on gene: SNX14: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SNCB Louise Daugherty reviewed gene: SNCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 SNCA Louise Daugherty commented on gene: SNCA: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SLC9A6 Louise Daugherty commented on gene: SLC9A6: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SLC6A5 Louise Daugherty commented on gene: SLC6A5: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SLC6A3 Louise Daugherty commented on gene: SLC6A3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SLC52A3 Louise Daugherty commented on gene: SLC52A3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SLC52A2 Louise Daugherty commented on gene: SLC52A2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SLC39A14 Louise Daugherty commented on gene: SLC39A14: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SLC30A10 Louise Daugherty commented on gene: SLC30A10: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SLC2A1 Louise Daugherty commented on gene: SLC2A1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SLC25A46 Louise Daugherty commented on gene: SLC25A46: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SLC20A2 Louise Daugherty commented on gene: SLC20A2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SLC1A4 Louise Daugherty commented on gene: SLC1A4: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SLC1A3 Louise Daugherty commented on gene: SLC1A3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SLC16A2 Louise Daugherty commented on gene: SLC16A2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SIL1 Louise Daugherty commented on gene: SIL1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SIGMAR1 Louise Daugherty commented on gene: SIGMAR1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SGCE Louise Daugherty commented on gene: SGCE: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SETX Louise Daugherty commented on gene: SETX: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SERAC1 Louise Daugherty commented on gene: SERAC1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SEPSECS Louise Daugherty commented on gene: SEPSECS: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SCN8A Louise Daugherty commented on gene: SCN8A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SCN1A Louise Daugherty commented on gene: SCN1A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SAR1B Louise Daugherty commented on gene: SAR1B: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 SACS Louise Daugherty commented on gene: SACS: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 RTN2 Louise Daugherty commented on gene: RTN2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 RNF216 Louise Daugherty commented on gene: RNF216: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 RNF170 Louise Daugherty commented on gene: RNF170: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 REEP2 Louise Daugherty commented on gene: REEP2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 REEP1 Louise Daugherty commented on gene: REEP1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 RARS2 Louise Daugherty commented on gene: RARS2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 RAB39B Louise Daugherty commented on gene: RAB39B: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 PSEN2 Louise Daugherty commented on gene: PSEN2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 PSEN1 Louise Daugherty commented on gene: PSEN1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 PRRT2 Louise Daugherty commented on gene: PRRT2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 PRNP Louise Daugherty commented on gene: PRNP: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 PRKRA Louise Daugherty commented on gene: PRKRA: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 PRKN Louise Daugherty commented on gene: PRKN: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 PRKCG Louise Daugherty commented on gene: PRKCG: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 PPP2R2B Louise Daugherty reviewed gene: PPP2R2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 POLR3A Louise Daugherty commented on gene: POLR3A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 POLG Louise Daugherty commented on gene: POLG: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 PNPLA6 Louise Daugherty commented on gene: PNPLA6: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 PNKP Louise Daugherty commented on gene: PNKP: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 PNKD Louise Daugherty commented on gene: PNKD: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 PMPCA Louise Daugherty commented on gene: PMPCA: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 PLP1 Louise Daugherty commented on gene: PLP1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 PLA2G6 Louise Daugherty commented on gene: PLA2G6: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 PINK1 Louise Daugherty commented on gene: PINK1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 PFN1 Louise Daugherty commented on gene: PFN1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 PEX16 Louise Daugherty commented on gene: PEX16: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 PDYN Louise Daugherty commented on gene: PDYN: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 PDGFRB Louise Daugherty commented on gene: PDGFRB: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 PDGFB Louise Daugherty commented on gene: PDGFB: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 PAX6 Louise Daugherty commented on gene: PAX6: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 PARK7 Louise Daugherty commented on gene: PARK7: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 PANK2 Louise Daugherty commented on gene: PANK2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 OPTN Louise Daugherty commented on gene: OPTN: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 OPHN1 Louise Daugherty commented on gene: OPHN1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 OPA3 Louise Daugherty commented on gene: OPA3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 NT5C2 Louise Daugherty reviewed gene: NT5C2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 NR4A2 Louise Daugherty reviewed gene: NR4A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 NPC2 Louise Daugherty commented on gene: NPC2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 NPC1 Louise Daugherty commented on gene: NPC1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 NOTCH3 Louise Daugherty commented on gene: NOTCH3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 NOP56 Louise Daugherty reviewed gene: NOP56: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 NKX6-2 Louise Daugherty commented on gene: NKX6-2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 NKX2-1 Louise Daugherty reviewed gene: NKX2-1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 NIPA1 Louise Daugherty commented on gene: NIPA1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 NHLRC1 Louise Daugherty commented on gene: NHLRC1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 NEFH Louise Daugherty commented on gene: NEFH: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 NDUFA12 Louise Daugherty reviewed gene: NDUFA12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 NAGLU Louise Daugherty reviewed gene: NAGLU: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 MVK Louise Daugherty commented on gene: MVK: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 MTTP Louise Daugherty commented on gene: MTTP: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 MTPAP Louise Daugherty reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 MT-ND6 Louise Daugherty reviewed gene: MT-ND6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 MT-ATP6 Louise Daugherty commented on gene: MT-ATP6: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 MRE11 Louise Daugherty commented on gene: MRE11: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 MR1 Louise Daugherty commented on gene: MR1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 MPV17 Louise Daugherty reviewed gene: MPV17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 MMADHC Louise Daugherty reviewed gene: MMADHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 MMACHC Louise Daugherty commented on gene: MMACHC: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 MECR Louise Daugherty commented on gene: MECR: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 MCOLN1 Louise Daugherty reviewed gene: MCOLN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 MAT1A Louise Daugherty reviewed gene: MAT1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 MARS2 Louise Daugherty commented on gene: MARS2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 MARS Louise Daugherty reviewed gene: MARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 MAPT Louise Daugherty commented on gene: MAPT: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 MAG Louise Daugherty commented on gene: MAG: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 LYST Louise Daugherty commented on gene: LYST: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 LRRK2 Louise Daugherty commented on gene: LRRK2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 L2HGDH Louise Daugherty reviewed gene: L2HGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 L1CAM Louise Daugherty commented on gene: L1CAM: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 KMT2B Louise Daugherty commented on gene: KMT2B: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 KLC4 Louise Daugherty reviewed gene: KLC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 KIF5A Louise Daugherty commented on gene: KIF5A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 KIF1C Louise Daugherty commented on gene: KIF1C: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 KIF1A Louise Daugherty commented on gene: KIF1A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 KIDINS220 Louise Daugherty commented on gene: KIDINS220: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 KIAA1161 Louise Daugherty commented on gene: KIAA1161: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 KDM5C Louise Daugherty commented on gene: KDM5C: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 KCNQ3 Louise Daugherty commented on gene: KCNQ3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 KCNQ2 Louise Daugherty commented on gene: KCNQ2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 KCNK18 Louise Daugherty commented on gene: KCNK18: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 KCNJ10 Louise Daugherty commented on gene: KCNJ10: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 KCND3 Louise Daugherty commented on gene: KCND3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 KCNC3 Louise Daugherty commented on gene: KCNC3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 KCNA1 Louise Daugherty commented on gene: KCNA1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 JPH3 Louise Daugherty reviewed gene: JPH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 ITPR1 Louise Daugherty commented on gene: ITPR1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ITM2B Louise Daugherty commented on gene: ITM2B: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 IPPK Louise Daugherty commented on gene: IPPK: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 IBA57 Louise Daugherty commented on gene: IBA57: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 HTT Louise Daugherty reviewed gene: HTT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 HTRA2 Louise Daugherty commented on gene: HTRA2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 HTRA1 Louise Daugherty commented on gene: HTRA1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 HSPD1 Louise Daugherty commented on gene: HSPD1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 HPRT1 Louise Daugherty reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 HPCA Louise Daugherty commented on gene: HPCA: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 HNRNPA1 Louise Daugherty commented on gene: HNRNPA1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 HFE Louise Daugherty reviewed gene: HFE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 HEXB Louise Daugherty commented on gene: HEXB: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 HEXA Louise Daugherty commented on gene: HEXA: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 HACE1 Louise Daugherty commented on gene: HACE1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 GRN Louise Daugherty commented on gene: GRN: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 GRM1 Louise Daugherty commented on gene: GRM1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 GRID2 Louise Daugherty commented on gene: GRID2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 GPAA1 Louise Daugherty commented on gene: GPAA1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 GOSR2 Louise Daugherty commented on gene: GOSR2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 GNAO1 Louise Daugherty commented on gene: GNAO1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 GNAL Louise Daugherty commented on gene: GNAL: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 GLRB Louise Daugherty commented on gene: GLRB: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 GLRA1 Louise Daugherty commented on gene: GLRA1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 GJC2 Louise Daugherty commented on gene: GJC2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 GIGYF2 Louise Daugherty reviewed gene: GIGYF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 GFAP Louise Daugherty commented on gene: GFAP: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 GCH1 Louise Daugherty commented on gene: GCH1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 GCDH Louise Daugherty reviewed gene: GCDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 GBA2 Louise Daugherty commented on gene: GBA2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 GBA Louise Daugherty commented on gene: GBA: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 GAMT Louise Daugherty reviewed gene: GAMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 GAD1 Louise Daugherty reviewed gene: GAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 FXN Louise Daugherty commented on gene: FXN: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 FUS Louise Daugherty commented on gene: FUS: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 FTL Louise Daugherty commented on gene: FTL: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 FOXRED1 Louise Daugherty reviewed gene: FOXRED1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 FOXG1 Louise Daugherty reviewed gene: FOXG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 FOLR1 Louise Daugherty commented on gene: FOLR1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 FMR1 Louise Daugherty commented on gene: FMR1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 FLVCR1 Louise Daugherty commented on gene: FLVCR1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 FIG4 Louise Daugherty commented on gene: FIG4: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 FGF14 Louise Daugherty commented on gene: FGF14: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 FBXO7 Louise Daugherty commented on gene: FBXO7: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 FASTKD2 Louise Daugherty reviewed gene: FASTKD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 FARS2 Louise Daugherty commented on gene: FARS2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 FA2H Louise Daugherty commented on gene: FA2H: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 EXOSC3 Louise Daugherty commented on gene: EXOSC3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ERLIN2 Louise Daugherty commented on gene: ERLIN2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ERLIN1 Louise Daugherty reviewed gene: ERLIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 ERCC6 Louise Daugherty reviewed gene: ERCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 ERBB4 Louise Daugherty reviewed gene: ERBB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 EPM2A Louise Daugherty commented on gene: EPM2A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ENTPD1 Louise Daugherty reviewed gene: ENTPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 ELOVL5 Louise Daugherty reviewed gene: ELOVL5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 ELOVL4 Louise Daugherty commented on gene: ELOVL4: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 EIF4G1 Louise Daugherty reviewed gene: EIF4G1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 EIF2B5 Louise Daugherty commented on gene: EIF2B5: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 EIF2B4 Louise Daugherty commented on gene: EIF2B4: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 EIF2B3 Louise Daugherty commented on gene: EIF2B3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 EIF2B2 Louise Daugherty commented on gene: EIF2B2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 EIF2B1 Louise Daugherty commented on gene: EIF2B1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 EARS2 Louise Daugherty reviewed gene: EARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 DYNC1H1 Louise Daugherty reviewed gene: DYNC1H1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 DSTYK Louise Daugherty reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 DRD5 Louise Daugherty reviewed gene: DRD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 DRD2 Louise Daugherty commented on gene: DRD2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 DNMT1 Louise Daugherty commented on gene: DNMT1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 DNAJC6 Louise Daugherty commented on gene: DNAJC6: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 DNAJC5 Louise Daugherty commented on gene: DNAJC5: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 DNAJC19 Louise Daugherty commented on gene: DNAJC19: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 DMXL2 Louise Daugherty commented on gene: DMXL2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 DLAT Louise Daugherty commented on gene: DLAT: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 DDHD2 Louise Daugherty commented on gene: DDHD2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 DDHD1 Louise Daugherty commented on gene: DDHD1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 DDC Louise Daugherty commented on gene: DDC: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 DCTN1 Louise Daugherty commented on gene: DCTN1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 DCAF17 Louise Daugherty commented on gene: DCAF17: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 DARS2 Louise Daugherty commented on gene: DARS2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 DARS Louise Daugherty commented on gene: DARS: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 DAB1 Louise Daugherty commented on gene: DAB1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 CYP7B1 Louise Daugherty commented on gene: CYP7B1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 CYP2U1 Louise Daugherty commented on gene: CYP2U1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 CYP27A1 Louise Daugherty commented on gene: CYP27A1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 CWF19L1 Louise Daugherty commented on gene: CWF19L1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 CSTB Louise Daugherty commented on gene: CSTB: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 CSF1R Louise Daugherty commented on gene: CSF1R: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 CP Louise Daugherty commented on gene: CP: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 COX20 Louise Daugherty commented on gene: COX20: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 COQ8A Louise Daugherty commented on gene: COQ8A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 COG5 Louise Daugherty commented on gene: COG5: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 COASY Louise Daugherty commented on gene: COASY: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 CLP1 Louise Daugherty commented on gene: CLP1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 CLN6 Louise Daugherty commented on gene: CLN6: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 CLCN2 Louise Daugherty commented on gene: CLCN2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 CIZ1 Louise Daugherty commented on gene: CIZ1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 CHMP2B Louise Daugherty commented on gene: CHMP2B: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 CHMP1A Louise Daugherty commented on gene: CHMP1A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 CHCHD2 Louise Daugherty commented on gene: CHCHD2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 CHCHD10 Louise Daugherty commented on gene: CHCHD10: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 CDK16 Louise Daugherty commented on gene: CDK16: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 CCT5 Louise Daugherty commented on gene: CCT5: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 CCNF Louise Daugherty commented on gene: CCNF: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 CCDC88C Louise Daugherty commented on gene: CCDC88C: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 CASK Louise Daugherty commented on gene: CASK: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 CAPN1 Louise Daugherty commented on gene: CAPN1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 CAMTA1 Louise Daugherty commented on gene: CAMTA1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 CACNB4 Louise Daugherty commented on gene: CACNB4: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 CACNA1G Louise Daugherty commented on gene: CACNA1G: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 CACNA1A Louise Daugherty commented on gene: CACNA1A: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 CA8 Louise Daugherty commented on gene: CA8: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 C9orf72 Louise Daugherty commented on gene: C9orf72: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 C19orf12 Louise Daugherty commented on gene: C19orf12: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 C12orf65 Louise Daugherty commented on gene: C12orf65: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 BSCL2 Louise Daugherty commented on gene: BSCL2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 BEAN1 Louise Daugherty reviewed gene: BEAN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 BCAP31 Louise Daugherty commented on gene: BCAP31: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 B4GALNT1 Louise Daugherty commented on gene: B4GALNT1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 AUH Louise Daugherty commented on gene: AUH: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ATXN8 Louise Daugherty commented on gene: ATXN8: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ATXN7 Louise Daugherty commented on gene: ATXN7: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ATXN3 Louise Daugherty commented on gene: ATXN3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ATXN2 Louise Daugherty commented on gene: ATXN2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ATXN10 Louise Daugherty commented on gene: ATXN10: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ATXN1 Louise Daugherty commented on gene: ATXN1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ATP8A2 Louise Daugherty commented on gene: ATP8A2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ATP7B Louise Daugherty commented on gene: ATP7B: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ATP6AP2 Louise Daugherty commented on gene: ATP6AP2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ATP2B3 Louise Daugherty commented on gene: ATP2B3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ATP1A3 Louise Daugherty commented on gene: ATP1A3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ATP1A2 Louise Daugherty commented on gene: ATP1A2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ATP13A2 Louise Daugherty commented on gene: ATP13A2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ATN1 Louise Daugherty commented on gene: ATN1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ATM Louise Daugherty commented on gene: ATM: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ATL1 Louise Daugherty commented on gene: ATL1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ATCAY Louise Daugherty commented on gene: ATCAY: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ARX Louise Daugherty commented on gene: ARX: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ARSI Louise Daugherty commented on gene: ARSI: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ARSA Louise Daugherty commented on gene: ARSA: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ARL6IP1 Louise Daugherty commented on gene: ARL6IP1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ARG1 Louise Daugherty commented on gene: ARG1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 AR Louise Daugherty reviewed gene: AR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.74 APTX Louise Daugherty commented on gene: APTX: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 APP Louise Daugherty commented on gene: APP: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 AP5Z1 Louise Daugherty commented on gene: AP5Z1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 AP4S1 Louise Daugherty commented on gene: AP4S1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 AP4M1 Louise Daugherty commented on gene: AP4M1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 AP4E1 Louise Daugherty commented on gene: AP4E1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 AP4B1 Louise Daugherty commented on gene: AP4B1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 AP1S2 Louise Daugherty commented on gene: AP1S2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ANO3 Louise Daugherty commented on gene: ANO3: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ANO10 Louise Daugherty commented on gene: ANO10: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ANG Louise Daugherty commented on gene: ANG: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 AMPD2 Louise Daugherty commented on gene: AMPD2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ALS2 Louise Daugherty commented on gene: ALS2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ALDH18A1 Louise Daugherty commented on gene: ALDH18A1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ALAS2 Louise Daugherty commented on gene: ALAS2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 AIMP1 Louise Daugherty commented on gene: AIMP1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 AFG3L2 Louise Daugherty commented on gene: AFG3L2: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ADCY5 Louise Daugherty commented on gene: ADCY5: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ADAR Louise Daugherty commented on gene: ADAR: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ACTB Louise Daugherty commented on gene: ACTB: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ABHD12 Louise Daugherty commented on gene: ABHD12: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ABCD1 Louise Daugherty commented on gene: ABCD1: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 ABCB7 Louise Daugherty commented on gene: ABCB7: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 AARS Louise Daugherty commented on gene: AARS: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.74 AAAS Louise Daugherty commented on gene: AAAS: Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Intellectual disability v2.970 CYP27A1 Catherine Snow reviewed gene: CYP27A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v1.73 VPS13C Louise Daugherty Phenotypes for gene: VPS13C were changed from 616840; Parkinson disease 23, autosomal recessive, early onset to Parkinson disease 23, autosomal recessive, early onset; 616840
Adult onset neurodegenerative disorder v1.72 VPS13C Nick Beauchamp reviewed gene: VPS13C: Rating: AMBER; Mode of pathogenicity: ; Publications: 26942284, 28862745, 28137300; Phenotypes: Parkinson disease 23, autosomal recessive, early onset, 616840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 DNAJC13 Nick Beauchamp reviewed gene: DNAJC13: Rating: AMBER; Mode of pathogenicity: ; Publications: 24218364, 30537300, 25186792; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 COQ2 Nick Beauchamp reviewed gene: COQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: 23758206; Phenotypes: Multiple system atrophy, susceptibility to,146500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 TUBA4A Nick Beauchamp reviewed gene: TUBA4A: Rating: AMBER; Mode of pathogenicity: ; Publications: 25374358, 25893256, 28069311; Phenotypes: Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, 616208; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 TAF15 Nick Beauchamp reviewed gene: TAF15: Rating: GREEN; Mode of pathogenicity: ; Publications: 22065782, 26601740; Phenotypes: Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 PRPH Nick Beauchamp reviewed gene: PRPH: Rating: AMBER; Mode of pathogenicity: ; Publications: 15446584, 25299611, 15322088; Phenotypes: Amyotrophic lateral sclerosis, susceptibility to, 170710; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 NEK1 Nick Beauchamp reviewed gene: NEK1: Rating: AMBER; Mode of pathogenicity: ; Publications: 26945885, 30093141, 29650794; Phenotypes: Amyotrophic lateral sclerosis, susceptibility to, 24, 617892; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 MATR3 Nick Beauchamp reviewed gene: MATR3: Rating: AMBER; Mode of pathogenicity: ; Publications: 28029397, 26493020, 25771394; Phenotypes: Amyotrophic lateral sclerosis 21; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 HNRNPA2B1 Nick Beauchamp reviewed gene: HNRNPA2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: 23455423, 27773581, 25299611; Phenotypes: Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 EWSR1 Nick Beauchamp reviewed gene: EWSR1: Rating: AMBER; Mode of pathogenicity: ; Publications: 22454397, 29170628; Phenotypes: Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 DAO Nick Beauchamp reviewed gene: DAO: Rating: GREEN; Mode of pathogenicity: ; Publications: 20368421, 29194436; Phenotypes: Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 ARHGEF28 Nick Beauchamp reviewed gene: ARHGEF28: Rating: AMBER; Mode of pathogenicity: ; Publications: 28709720, 27154192, 23286752, 24712971; Phenotypes: Amyotrophic lateral sclerosis; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 ANXA11 Nick Beauchamp reviewed gene: ANXA11: Rating: GREEN; Mode of pathogenicity: ; Publications: 28469040, 29845112, 30337194; Phenotypes: Amytrophic lateral sclerosis 23, 617839; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SS18L1 Nick Beauchamp reviewed gene: SS18L1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23708140, 24360741; Phenotypes: Amyotrophic lateral sclerosis, 105400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 ZFYVE26 Nick Beauchamp reviewed gene: ZFYVE26: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 15, autosomal recessive, Autosomal recessive spastic paraplegia 15 (#270700); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 YY1 Nick Beauchamp reviewed gene: YY1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Gabriele-de Vries syndrome 617557; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 XPR1 Nick Beauchamp reviewed gene: XPR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25938945, 26231937; Phenotypes: Basal ganglia calcification, idiopathic, 6, 605237; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 WWOX Nick Beauchamp reviewed gene: WWOX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia 12, 614322; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 WFS1 Nick Beauchamp reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Wolfram syndrome 1, 222300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 WDR81 Nick Beauchamp reviewed gene: WDR81: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 WDR73 Nick Beauchamp reviewed gene: WDR73: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature, Galloway-Mowat syndrome 1, 251300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 WDR45B Nick Beauchamp reviewed gene: WDR45B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 WDR45 Nick Beauchamp reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: ; Publications: 23176820, 23435086; Phenotypes: Dystonia, beta-propeller protein-associated neurodegeneration; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 WASHC5 Nick Beauchamp reviewed gene: WASHC5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 8, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 VRK1 Nick Beauchamp reviewed gene: VRK1: Rating: RED; Mode of pathogenicity: ; Publications: 26583493; Phenotypes: Pontocerebellar hypoplasia type 1A, 607596, Amyotrophic lateral sclerosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 VPS53 Nick Beauchamp reviewed gene: VPS53: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2E, 615851; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 VPS35 Nick Beauchamp reviewed gene: VPS35: Rating: GREEN; Mode of pathogenicity: ; Publications: 18342564, 21763482; Phenotypes: Parkinson disease 17, 614203, Parkinson Disease, Dominant, late onset parkinson disease, PARKINSON DISEASE 17, PARK17; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 VPS13D Nick Beauchamp reviewed gene: VPS13D: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 4, 607317; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 VPS13A Nick Beauchamp reviewed gene: VPS13A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: complex parkinsonism, Complex parkinsonism, 200150, Choreoacanthocytosis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 VLDLR Nick Beauchamp reviewed gene: VLDLR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 VCP Nick Beauchamp reviewed gene: VCP: Rating: GREEN; Mode of pathogenicity: ; Publications: 21145000, 23498975; Phenotypes: Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954, familial amyotrophic lateral sclerosis (ALS14), Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 VAPB Nick Beauchamp reviewed gene: VAPB: Rating: GREEN; Mode of pathogenicity: ; Publications: 15372378, 18555774; Phenotypes: Amyotrophic lateral sclerosis 8, 608627, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 VAMP1 Nick Beauchamp reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 1, autosomal dominant, 108600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 VAC14 Nick Beauchamp reviewed gene: VAC14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Striatonigral degeneration, childhood-onset, 617054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 UBQLN2 Nick Beauchamp reviewed gene: UBQLN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21857683, 23541532; Phenotypes: Amyotrophic Lateral Sclerosis, Dominant, Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 TYROBP Nick Beauchamp reviewed gene: TYROBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 10888890, 12370476; Phenotypes: Dementia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 TWNK Nick Beauchamp reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: ; Publications: 19513767; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 TUBB4A Nick Beauchamp reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: ; Publications: 25374358; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 TTPA Nick Beauchamp reviewed gene: TTPA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia with isolated vitamin E deficiency, Ataxia with Vitamin E Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 TTC19 Nick Beauchamp reviewed gene: TTC19: Rating: GREEN; Mode of pathogenicity: ; Publications: 23532514, 21278747; Phenotypes: Mitochondrial complex III deficiency, nuclear type 2, 615157; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 TTBK2 Nick Beauchamp reviewed gene: TTBK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 11; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 TSEN54 Nick Beauchamp reviewed gene: TSEN54: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2A, 277470, Pontocerebellar hypoplasia 4, 225753; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 TSEN2 Nick Beauchamp reviewed gene: TSEN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 2B, 612389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 TREM2 Nick Beauchamp reviewed gene: TREM2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15883308, 23318515; Phenotypes: Dementia, Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 TPP1 Nick Beauchamp reviewed gene: TPP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 2, 204500, Spinocerebellar ataxia, autosomal recessive 7, 609270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 TOR1A Nick Beauchamp reviewed gene: TOR1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: primary torsion dystonia (DYT1), early-onset isolated dystonia, Dystonia-1, torsion, 128100, Autosomal dominant or sporadic dystonia (DYT1), Early-Onset Primary Dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 TMEM240 Nick Beauchamp reviewed gene: TMEM240: Rating: GREEN; Mode of pathogenicity: ; Publications: 18418688, 25070513; Phenotypes: Spinocerebellar ataxia 21, 607454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 THAP1 Nick Beauchamp reviewed gene: THAP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Dystonia 6, torsion, 602629, DYT6; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 TH Nick Beauchamp reviewed gene: TH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Segawa syndrome, DOPA-responsive dystonia, infantile parkinsonism, Segawa syndrome, recessive, 605407, paediatric form of dopa responsive dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 TGM6 Nick Beauchamp reviewed gene: TGM6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 35, 613908; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 TBP Nick Beauchamp reviewed gene: TBP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 17, 607136, Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600, {Parkinson disease, susceptibility to}, 168600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 TBK1 Nick Beauchamp reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 25700176; Phenotypes: FTLD, ALS, fronto-temporal dementia, Amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 TARDBP Nick Beauchamp reviewed gene: TARDBP: Rating: GREEN; Mode of pathogenicity: ; Publications: 19379745, 18372902; Phenotypes: Amyotrophic Lateral Sclerosis, Dominant, Frontotemporal Dementia, Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 TAF1 Nick Beauchamp reviewed gene: TAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11714101, 17273961; Phenotypes: SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250, (NB complex mutation), Dystonia-Parkinsonism, X-linked, 314250; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SYNJ1 Nick Beauchamp reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23804563, 23804577; Phenotypes: Parkinson disease 20, early-onset, 615530, Early Onset Complex Disease, juvenile Parkinsonism, Parkinson disease 20, early-onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SYNE1 Nick Beauchamp reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27197992, 25681989, 27086870; Phenotypes: Cerebellar Ataxia, Spinocerebellar ataxia, autosomal recessive 8; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 STUB1 Nick Beauchamp reviewed gene: STUB1: Rating: AMBER; Mode of pathogenicity: ; Publications: 30381368, 25592071; Phenotypes: Spinocerebellar ataxia, autosomal recessive 16, 615768; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SRD5A3 Nick Beauchamp reviewed gene: SRD5A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Iq, 612379, Kahrizi syndrome, 612713; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SQSTM1 Nick Beauchamp reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22084127, 22972638; Phenotypes: Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, 616437; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SPTBN2 Nick Beauchamp reviewed gene: SPTBN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, Spinocerebellar Ataxia, Dominant, Spinocerebellar ataxia, autosomal recessive 14, SPINOCEREBELLAR ATAXIA 5 (autosomal dominant), Spinocerebellar ataxia 5; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SPR Nick Beauchamp reviewed gene: SPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: paediatric form of dopa responsive dystonia, Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716, Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716, Dopa-Responsive Dystonia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SPG7 Nick Beauchamp reviewed gene: SPG7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 7, 607259, complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia, Spastic paraplegia 7, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SPG21 Nick Beauchamp reviewed gene: SPG21: Rating: GREEN; Mode of pathogenicity: ; Publications: 14564668, 28752238, 24451228; Phenotypes: Spastic Paraplegia, Recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SPG11 Nick Beauchamp reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: 18067136, 22554690; Phenotypes: early onset parkinsonism, levo dopa responsve, Spastic paraplegia 11, autosomal recessive, Complex parkinsonism, hereditary spastic paraparesis, Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SPAST Nick Beauchamp reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: ; Publications: 16240363, 25700176; Phenotypes: Spastic paraplegia 4, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SPART Nick Beauchamp reviewed gene: SPART: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Troyer syndrome, 275900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SOD1 Nick Beauchamp reviewed gene: SOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24501761, 25439728; Phenotypes: Amyotrophic lateral sclerosis 1, 105400, amyotrophic lateral sclerosis, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SNX14 Nick Beauchamp reviewed gene: SNX14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spinocerebellar ataxia (#616354); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SNCB Nick Beauchamp reviewed gene: SNCB: Rating: AMBER; Mode of pathogenicity: ; Publications: 15365127, 21045828; Phenotypes: Dementia, Lewy body, 127750; Mode of inheritance: Unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SNCA Nick Beauchamp reviewed gene: SNCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal dominant Parkinson's disease with alpha-synuclein rearrangements (PARK1/4), Parkinson disease 4, 605543, Parkinson disease 1, 168601, Dementia, Lewy body, 127750; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SLC9A6 Nick Beauchamp reviewed gene: SLC9A6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked syndromic, Christianson type, 300243; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.72 SLC6A5 Nick Beauchamp reviewed gene: SLC6A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 3, 614618; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SLC6A3 Nick Beauchamp reviewed gene: SLC6A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 21777827, 19478460; Phenotypes: Parkinsonism-dystonia, infantile, 613135, {Nicotine dependence, protection against}, 188890; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SLC52A3 Nick Beauchamp reviewed gene: SLC52A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Fazio-Londe disease, Brown-Vialetto-Van Laere syndrome 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 SLC52A2 Nick Beauchamp reviewed gene: SLC52A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, 614707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SLC39A14 Nick Beauchamp reviewed gene: SLC39A14: Rating: GREEN; Mode of pathogenicity: ; Publications: 27231142; Phenotypes: Hypermanganesemia with dystonia 2, 617013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SLC30A10 Nick Beauchamp reviewed gene: SLC30A10: Rating: GREEN; Mode of pathogenicity: ; Publications: 22341971, 30272946; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SLC2A1 Nick Beauchamp reviewed gene: SLC2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SLC25A46 Nick Beauchamp reviewed gene: SLC25A46: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary motor and sensory, type VIB, 616505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SLC20A2 Nick Beauchamp reviewed gene: SLC20A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24135862, 24065723; Phenotypes: Basal ganglia calcification, idiopathic, 1, 158378; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SLC1A4 Nick Beauchamp reviewed gene: SLC1A4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SLC1A3 Nick Beauchamp reviewed gene: SLC1A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: EPISODIC ATAXIA, TYPE 6, Episodic ataxia, type 6, 612656; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 SLC16A2 Nick Beauchamp reviewed gene: SLC16A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.72 SIL1 Nick Beauchamp reviewed gene: SIL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Marinesco-Sjogren syndrome, 248800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SIGMAR1 Nick Beauchamp reviewed gene: SIGMAR1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21842496, 27821430, 21031579; Phenotypes: Amyotrophic lateral sclerosis 16, juvenile, 614373; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SGCE Nick Beauchamp reviewed gene: SGCE: Rating: AMBER; Mode of pathogenicity: ; Publications: 23332219, 22626943; Phenotypes: Myoclonus dystonia syndrome, Myoclonus-Dystonia, maternally imprinted Dystonia-11, myoclonic, 159900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Adult onset neurodegenerative disorder v1.72 SETX Nick Beauchamp reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: ; Publications: 15106121, 21438761; Phenotypes: Amyotrophic lateral sclerosis 4, juvenile 602433, ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia, Ataxia-ocular apraxia-2; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 SERAC1 Nick Beauchamp reviewed gene: SERAC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SEPSECS Nick Beauchamp reviewed gene: SEPSECS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia type 2D (613811); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SCN8A Nick Beauchamp reviewed gene: SCN8A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: epilepsy, Cognitive impairment with or without cerebellar ataxia, 614306, paroxysmal kinesigenic dyskinesias; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 SCN1A Nick Beauchamp reviewed gene: SCN1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: several epilepsy, convulsion and migraine disorders., familial hemiplegic migraine 3, Dravet syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 SAR1B Nick Beauchamp reviewed gene: SAR1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Chylomicron retention disease 246700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 SACS Nick Beauchamp reviewed gene: SACS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 RTN2 Nick Beauchamp reviewed gene: RTN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 12, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 RNF216 Nick Beauchamp reviewed gene: RNF216: Rating: GREEN; Mode of pathogenicity: ; Publications: 11932290, 23656588; Phenotypes: Cerebellar ataxia and hypogonadotropic hypogonadism, 212840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 RNF170 Nick Beauchamp reviewed gene: RNF170: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, sensory, 1, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 REEP2 Nick Beauchamp reviewed gene: REEP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 72, autosomal recessive, 615625, ?Spastic paraplegia 72, autosomal dominant,615625; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 REEP1 Nick Beauchamp reviewed gene: REEP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 31, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 RARS2 Nick Beauchamp reviewed gene: RARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: epilepsy, Pontocerebellar hypoplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 RAB39B Nick Beauchamp reviewed gene: RAB39B: Rating: GREEN; Mode of pathogenicity: ; Publications: 25434005, 26399558, 28851564; Phenotypes: early-onset parkinsonism and intellectual disability, ?Waisman syndrome; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 PSEN2 Nick Beauchamp reviewed gene: PSEN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 7638622, 12925374; Phenotypes: Dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 PSEN1 Nick Beauchamp reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 7596406, 16033913; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 PRRT2 Nick Beauchamp reviewed gene: PRRT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 PRNP Nick Beauchamp reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: ; Publications: 10953183, 16831973; Phenotypes: Creutzfeldt-Jakob disease, Autosomal Dominant Ataxia, Insomnia, fatal familial, Huntington disease-like 1, Clinical syndrome Prion disease, Dementia, Gerstmann-Straussler disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 PRKRA Nick Beauchamp reviewed gene: PRKRA: Rating: GREEN; Mode of pathogenicity: ; Publications: 18243799; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 PRKN Nick Beauchamp reviewed gene: PRKN: Rating: GREEN; Mode of pathogenicity: ; Publications: 9560156, 12056932; Phenotypes: Parkinson disease, juvenile, type 2, Dystonia, Parkinson Disease 2, Autosomal Recessive Juvenile, juvenile parkinsonism/dystonia, Parkinson Disease, Juvenile; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 PRKCG Nick Beauchamp reviewed gene: PRKCG: Rating: GREEN; Mode of pathogenicity: ; Publications: 29603387, 12644968; Phenotypes: Spinocerebellar ataxia 14; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 PPP2R2B Nick Beauchamp reviewed gene: PPP2R2B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia12,604326; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 POLR3A Nick Beauchamp reviewed gene: POLR3A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, Autosomal Recessive Ataxia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 POLG Nick Beauchamp reviewed gene: POLG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 PNPLA6 Nick Beauchamp reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 29749493, 18313024, 24355708; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 PNKP Nick Beauchamp reviewed gene: PNKP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia with oculomotor apraxia 4 (#616267); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 PNKD Nick Beauchamp reviewed gene: PNKD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Familial Paroxysmal Nonkinesigenic Dyskinesia, PAROXYSMAL NONKINESIGENIC DYSKINESIA 1, Paroxysmal nonkinesigenic dyskinesia, 118800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 PMPCA Nick Beauchamp reviewed gene: PMPCA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 PLP1 Nick Beauchamp reviewed gene: PLP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Spastic paraplegia 2, X-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.72 PLA2G6 Nick Beauchamp reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: ; Publications: 18799783, 16783378; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 PINK1 Nick Beauchamp reviewed gene: PINK1: Rating: GREEN; Mode of pathogenicity: ; Publications: 15087508, 15349870; Phenotypes: Parkinson disease 6, early onset, 605909, Dystonia, Parkinson Disease 6, Autosomal Recessive Early-Onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 PFN1 Nick Beauchamp reviewed gene: PFN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22801503, 24920614; Phenotypes: Amyotrophic lateral sclerosis 18, 614808; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 PEX16 Nick Beauchamp reviewed gene: PEX16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Zellweger syndrome (614876), Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 PDYN Nick Beauchamp reviewed gene: PDYN: Rating: GREEN; Mode of pathogenicity: ; Publications: 21035104, 15306549; Phenotypes: Spinocerebellar ataxia 23; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 PDGFRB Nick Beauchamp reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: ; Publications: 24065723, 24796542; Phenotypes: Basal ganglia calcification, idiopathic, 4, 615007; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 PDGFB Nick Beauchamp reviewed gene: PDGFB: Rating: GREEN; Mode of pathogenicity: ; Publications: 23913003, 29955172; Phenotypes: Basal ganglia calcification, idiopathic, 5 615483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 PAX6 Nick Beauchamp reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Aniridia, Cerebellar Ataxia, And Mental Retardation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 PARK7 Nick Beauchamp reviewed gene: PARK7: Rating: GREEN; Mode of pathogenicity: ; Publications: 11462174, 12446870; Phenotypes: Parkinson disease 7 autosomal recessive early-onset, 606324, Parkinson disease 7, autosomal recessive early-onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 PANK2 Nick Beauchamp reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11479594, 15911822; Phenotypes: Dystonia, Neurodegeneration with brain iron accumulation 1, 234200, Early Onset Complex Disease, pantothenate kinase-associated neurodegeneration; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 OPTN Nick Beauchamp reviewed gene: OPTN: Rating: GREEN; Mode of pathogenicity: ; Publications: 20428114, 23889540; Phenotypes: Glaucoma 1, open angle, E, 137760, Amyotrophic Lateral Sclerosis, Recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 OPHN1 Nick Beauchamp reviewed gene: OPHN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.72 OPA3 Nick Beauchamp reviewed gene: OPA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Costeff syndrome, 3-methylglutaconic aciduria, type III, 258501; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 NT5C2 Nick Beauchamp reviewed gene: NT5C2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 45, autosomal recessive, 613162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 NR4A2 Nick Beauchamp reviewed gene: NR4A2: Rating: AMBER; Mode of pathogenicity: ; Publications: 16532445, 12496759, 19429166, 28385514; Phenotypes: Parkinson Disease, Dominant/Recessive (susceptibility to); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 NPC2 Nick Beauchamp reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Niemann-Pick disease type C2 (#607625); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 NPC1 Nick Beauchamp reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Niemann-Pick disease types C1 and D (#257220); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 NOTCH3 Nick Beauchamp reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 NOP56 Nick Beauchamp reviewed gene: NOP56: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia36,614153; Mode of inheritance: Other - please specifiy in evaluation comments
Adult onset neurodegenerative disorder v1.72 NKX6-2 Nick Beauchamp reviewed gene: NKX6-2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 NKX2-1 Nick Beauchamp reviewed gene: NKX2-1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Chorea, hereditary benign 118700, Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 NIPA1 Nick Beauchamp reviewed gene: NIPA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 6, autosomal dominant, Spasticparaplegia6,autosomaldominant,600363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 NHLRC1 Nick Beauchamp reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2B (Lafora) 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 NEFH Nick Beauchamp reviewed gene: NEFH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: susceptibility to amyotrophic lateral sclerosis (ALS); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 NDUFA12 Nick Beauchamp reviewed gene: NDUFA12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leigh syndrome due to mitochondrial complex 1 deficiency 256000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 NAGLU Nick Beauchamp reviewed gene: NAGLU: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Sensory neuropathy turning into a mild sensory ataxia (AD), Sanfilippo syndrome B (AR) (OMIM #252920); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 MVK Nick Beauchamp reviewed gene: MVK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mevalonic aciduria 610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 MTTP Nick Beauchamp reviewed gene: MTTP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Abetalipoproteinemia, 200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 MTPAP Nick Beauchamp reviewed gene: MTPAP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, spastic, 4,, Ataxia, spastic, 4, Spastic ataxia 4, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 MT-ND6 Nick Beauchamp reviewed gene: MT-ND6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leber Optic Atrophy And Dystonia; Mode of inheritance: MITOCHONDRIAL
Adult onset neurodegenerative disorder v1.72 MT-ATP6 Nick Beauchamp reviewed gene: MT-ATP6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, Ataxia, and Retinitis Pigmentosa; Mode of inheritance: MITOCHONDRIAL
Adult onset neurodegenerative disorder v1.72 MRE11 Nick Beauchamp reviewed gene: MRE11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia-telangiectasia-like disorder, Ataxia-Telangiectasia-Like Disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 MR1 Nick Beauchamp reviewed gene: MR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Paroxysmal/Episodic dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 MPV17 Nick Beauchamp reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2EE, 618400; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 MMADHC Nick Beauchamp reviewed gene: MMADHC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Methylmalonic aciduria, cblD type, variant 2, 277410; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 MMACHC Nick Beauchamp reviewed gene: MMACHC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia and hypogonadism, Methylmalonic aciduria and homocystinuria, cblC type, 277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 MECR Nick Beauchamp reviewed gene: MECR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 MCOLN1 Nick Beauchamp reviewed gene: MCOLN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mucolipidosis IV; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 MAT1A Nick Beauchamp reviewed gene: MAT1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Methionine adenosyltransferase deficiency, autosomal recessive, 250850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 MARS2 Nick Beauchamp reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: 16672289, 22448145; Phenotypes: Spastic ataxia 3, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 MARS Nick Beauchamp reviewed gene: MARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, axonal, type 2U, 616280; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 MAPT Nick Beauchamp reviewed gene: MAPT: Rating: GREEN; Mode of pathogenicity: ; Publications: 9641683, 9789048; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 MAG Nick Beauchamp reviewed gene: MAG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 75, autosomal recessive, 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 LYST Nick Beauchamp reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Chediak-Higashi syndrome 214500, peripheral neuropathy, Parkinsonism, albinism, spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 LRRK2 Nick Beauchamp reviewed gene: LRRK2: Rating: GREEN; Mode of pathogenicity: ; Publications: 15541308, 7898705; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 L2HGDH Nick Beauchamp reviewed gene: L2HGDH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: L-2-hydroxyglutaric aciduria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 L1CAM Nick Beauchamp reviewed gene: L1CAM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.72 KMT2B Nick Beauchamp reviewed gene: KMT2B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: early-onset dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 KLC4 Nick Beauchamp reviewed gene: KLC4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: spastic paraplegia, progressive complicated spastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 KIF5A Nick Beauchamp reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: 29566793, 29954873; Phenotypes: Spastic paraplegia 10, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 KIF1C Nick Beauchamp reviewed gene: KIF1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 2,autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 KIF1A Nick Beauchamp reviewed gene: KIF1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 30, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 KIDINS220 Nick Beauchamp reviewed gene: KIDINS220: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 KIAA1161 Nick Beauchamp reviewed gene: KIAA1161: Rating: GREEN; Mode of pathogenicity: ; Publications: 29910000, 30656188; Phenotypes: Autosomal Recessive Primary Familial Brain Calcification; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 KDM5C Nick Beauchamp reviewed gene: KDM5C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534, Intellectual disability, developmental delay, progressive spasticity, epilepsy, hypothyroidism; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.72 KCNQ3 Nick Beauchamp reviewed gene: KCNQ3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Seizures, benign neonatal, type 2, 121201; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 KCNQ2 Nick Beauchamp reviewed gene: KCNQ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Myokymia, 121200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 KCNK18 Nick Beauchamp reviewed gene: KCNK18: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 KCNJ10 Nick Beauchamp reviewed gene: KCNJ10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 KCND3 Nick Beauchamp reviewed gene: KCND3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia19,607346; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 KCNC3 Nick Beauchamp reviewed gene: KCNC3: Rating: GREEN; Mode of pathogenicity: ; Publications: 16501573; Phenotypes: Spinocerebellar ataxia 13; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 KCNA1 Nick Beauchamp reviewed gene: KCNA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: myokymia with periodic ataxia, Episodic ataxia/myokymia syndrome,, EPISODIC ATAXIA, TYPE 1; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 JPH3 Nick Beauchamp reviewed gene: JPH3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Huntington disease-like 2 606438; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 ITPR1 Nick Beauchamp reviewed gene: ITPR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 29, Spinocerebellar ataxia 15; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 ITM2B Nick Beauchamp reviewed gene: ITM2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 10391242, 29525180; Phenotypes: Dementia, familial British, 176500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 IPPK Nick Beauchamp reviewed gene: IPPK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 IBA57 Nick Beauchamp reviewed gene: IBA57: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 74, autosomal recessive, 616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 HTT Nick Beauchamp reviewed gene: HTT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Huntington disease 143100, Huntingtons disease (HD); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 HTRA2 Nick Beauchamp reviewed gene: HTRA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18364387, 15961413; Phenotypes: Parkinson Disease, Dominant, Parkinson disease 13, 610297, 3-methylglutaconic aciduria, type VIII 617248; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 HTRA1 Nick Beauchamp reviewed gene: HTRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19387015, 24500651; Phenotypes: CARASIL syndrome 600142, Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2 616779; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 HSPD1 Nick Beauchamp reviewed gene: HSPD1: Rating: RED; Mode of pathogenicity: ; Publications: 18571143, 11898127; Phenotypes: Spastic paraplegia 13, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 HPRT1 Nick Beauchamp reviewed gene: HPRT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 HPCA Nick Beauchamp reviewed gene: HPCA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 HNRNPA1 Nick Beauchamp reviewed gene: HNRNPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 23455423; Phenotypes: ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 HFE Nick Beauchamp reviewed gene: HFE: Rating: RED; Mode of pathogenicity: ; Publications: 17828789; Phenotypes: ; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 HEXB Nick Beauchamp reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: ; Publications: 24263030, 20798201; Phenotypes: Sandhoff disease, infantile, juvenile, and adult forms, 268800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 HEXA Nick Beauchamp reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: ; Publications: 28739864, 27033294; Phenotypes: GM2-gangliosidosis, several forms, 272800, Tay-Sachs disease, 272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 HACE1 Nick Beauchamp reviewed gene: HACE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, psychomotor retardation, seizure, Spastic paraplegia and psychomotor retardation with or without seizures, 616756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 GRN Nick Beauchamp reviewed gene: GRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 GRM1 Nick Beauchamp reviewed gene: GRM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 13; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 GRID2 Nick Beauchamp reviewed gene: GRID2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 18, 616204; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 GPAA1 Nick Beauchamp reviewed gene: GPAA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Glycosylphosphatidylinositol biosynthesis defect 15, 617810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 GOSR2 Nick Beauchamp reviewed gene: GOSR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 6, 614018; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 GNAO1 Nick Beauchamp reviewed gene: GNAO1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodevelopmental disorder with involuntary movements, 617493; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 GNAL Nick Beauchamp reviewed gene: GNAL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: adult-onset cranio-cervical dystonia, Dystonia 25, 615073; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 GLRB Nick Beauchamp reviewed gene: GLRB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia 2, 614619; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 GLRA1 Nick Beauchamp reviewed gene: GLRA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hyperekplexia, hereditary 1, 149400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 GJC2 Nick Beauchamp reviewed gene: GJC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 2, Autosomal Recessive Ataxia, Spastic paraplegia 44, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 GIGYF2 Nick Beauchamp reviewed gene: GIGYF2: Rating: GREEN; Mode of pathogenicity: ; Publications: 18358451, 26134514, 20178831; Phenotypes: {Parkinson disease 11}, Susceptibility to Parkinson disease 11, 607688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 GFAP Nick Beauchamp reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: ; Publications: 26023202, 29095329; Phenotypes: Autosomal Dominant Ataxia, Alexander disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 GCH1 Nick Beauchamp reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 25497597, 24993959; Phenotypes: Dopa-Responsive Dystonia (DRD), progressive spastic paraplegia, Dystonia, Hyperphenylalaninemia, BH4-deficient, B, 233910, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230, Spastic paraplegia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 GCDH Nick Beauchamp reviewed gene: GCDH: Rating: GREEN; Mode of pathogenicity: ; Publications: 23884036, 26316201; Phenotypes: Glutaricaciduria, type I, 231670; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 GBA2 Nick Beauchamp reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 46, autosomal recessive, 614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 GBA Nick Beauchamp reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: 15525722, 17620502; Phenotypes: {Parkinson disease, late-onset, susceptibility to}, 168600, Gaucher disease, type I, 230800; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 GAMT Nick Beauchamp reviewed gene: GAMT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebral creatine deficiency syndrome 2, 612736; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 GAD1 Nick Beauchamp reviewed gene: GAD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebralpalsy,spasticquadriplegic,1, 603513; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 FXN Nick Beauchamp reviewed gene: FXN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Friedreichataxia,229300Friedreichataxiawithretainedreflexes, 229300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 FUS Nick Beauchamp reviewed gene: FUS: Rating: GREEN; Mode of pathogenicity: ; Publications: 19251627, 19251628; Phenotypes: Dementia, Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 FTL Nick Beauchamp reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 3, movement disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 FOXRED1 Nick Beauchamp reviewed gene: FOXRED1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 19, 618241; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 FOXG1 Nick Beauchamp reviewed gene: FOXG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Rett syndrome, congenital variant, 613454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 FOLR1 Nick Beauchamp reviewed gene: FOLR1: Rating: RED; Mode of pathogenicity: ; Publications: 11438811, 12746423; Phenotypes: Neurodegeneration due to cerebral folate transport deficiency, 613068; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 FMR1 Nick Beauchamp reviewed gene: FMR1: Rating: RED; Mode of pathogenicity: ; Publications: 28176767; Phenotypes: FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI), males with a tremor phenotype, FragileXtremor/ataxiasyndrome,300623; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.72 FLVCR1 Nick Beauchamp reviewed gene: FLVCR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Posterior Column Ataxia with Retinitis Pigmentosa, Ataxia, posterior column, with retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 FIG4 Nick Beauchamp reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: 19118816, 23888880; Phenotypes: Charcot-Marie-Tooth disease, type 4J, 611228, Amyotrophic Lateral Sclerosis, Dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 FGF14 Nick Beauchamp reviewed gene: FGF14: Rating: GREEN; Mode of pathogenicity: ; Publications: 16211615; Phenotypes: Spinocerebellar ataxia 27; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 FBXO7 Nick Beauchamp reviewed gene: FBXO7: Rating: GREEN; Mode of pathogenicity: ; Publications: 18513678, 19038853; Phenotypes: Parkinson Disease, Recessive, Dystonia, juvenile parkinsonism, parkinsonian-pyramidal syndrome, Parkinson disease 15, autosomal recessive, 260300, Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 FASTKD2 Nick Beauchamp reviewed gene: FASTKD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 FARS2 Nick Beauchamp reviewed gene: FARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 77, autosomal recessive, 617046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 FA2H Nick Beauchamp reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, fatty acid hydroxylase-associated neurodegeneration, Spastic paraplegia 35, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 EXOSC3 Nick Beauchamp reviewed gene: EXOSC3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 1B, 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ERLIN2 Nick Beauchamp reviewed gene: ERLIN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: neurodegeneration, hereditary spastic paraplegia, Spastic paraplegia 18, autosomal recessive, 611225, Spastic paraplegia, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ERLIN1 Nick Beauchamp reviewed gene: ERLIN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, Spastic paraplegia 62, 615681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ERCC6 Nick Beauchamp reviewed gene: ERCC6: Rating: RED; Mode of pathogenicity: ; Publications: 18185538; Phenotypes: Cockayne syndrome, type B, 133540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ERBB4 Nick Beauchamp reviewed gene: ERBB4: Rating: AMBER; Mode of pathogenicity: ; Publications: 24119685; Phenotypes: Amyotrophic lateral sclerosis 19, 615515; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 EPM2A Nick Beauchamp reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 2A (Lafora), 254780; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 ENTPD1 Nick Beauchamp reviewed gene: ENTPD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spasticparaplegia64, 615683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ELOVL5 Nick Beauchamp reviewed gene: ELOVL5: Rating: RED; Mode of pathogenicity: ; Publications: 25065913; Phenotypes: Spinocerebellar ataxia 36, 615957; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 ELOVL4 Nick Beauchamp reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 5048218, 24566826; Phenotypes: Spinocerebellar ataxia 34 133190; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 EIF4G1 Nick Beauchamp reviewed gene: EIF4G1: Rating: GREEN; Mode of pathogenicity: ; Publications: 21907011; Phenotypes: Parkinsons disease 18, 614251; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 EIF2B5 Nick Beauchamp reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: ; Publications: 11704758, 11835386; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 EIF2B4 Nick Beauchamp reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: ; Publications: 11704758, 11835386; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 EIF2B3 Nick Beauchamp reviewed gene: EIF2B3: Rating: GREEN; Mode of pathogenicity: ; Publications: 11704758, 11835386; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 EIF2B2 Nick Beauchamp reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11704758, 11835386; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease, Leukoencephalopathy with vanishing white matter, 603896; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 EIF2B1 Nick Beauchamp reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11704758, 11835386; Phenotypes: Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease, Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 EARS2 Nick Beauchamp reviewed gene: EARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 12, 614924; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 DYNC1H1 Nick Beauchamp reviewed gene: DYNC1H1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot Marie Tooth, SMA, Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 DSTYK Nick Beauchamp reviewed gene: DSTYK: Rating: RED; Mode of pathogenicity: ; Publications: 28157540; Phenotypes: Spastic paraplegia 23, 270750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 DRD5 Nick Beauchamp reviewed gene: DRD5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: {Blepharospasm, primary benign}, 606798; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 DRD2 Nick Beauchamp reviewed gene: DRD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, myoclonic, 159900; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 DNMT1 Nick Beauchamp reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22328086, 8747854; Phenotypes: Dementia, Deafness, and Sensory Neuropathy, Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 DNAJC6 Nick Beauchamp reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 22563501, 23211418; Phenotypes: Parkinson disease 19b, early-onset, Parkinson disease 19, juvenile-onset, 615528, Parkinson disease 19a, juvenile-onset; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 DNAJC5 Nick Beauchamp reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: ; Publications: 22073189, 26610600; Phenotypes: Ceroid lipofuscinosis, neuronal, 4, Parry type, 162350; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 DNAJC19 Nick Beauchamp reviewed gene: DNAJC19: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type V 610198, dilated cardiomyopathy with ataxia (DCMA) syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 DMXL2 Nick Beauchamp reviewed gene: DMXL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Sensorineural Hearing Loss, 612186; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 DLAT Nick Beauchamp reviewed gene: DLAT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 DDHD2 Nick Beauchamp reviewed gene: DDHD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 DDHD1 Nick Beauchamp reviewed gene: DDHD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 28, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 DDC Nick Beauchamp reviewed gene: DDC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 DCTN1 Nick Beauchamp reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 20437543, 24343258; Phenotypes: Neuropathy, distal hereditary motor, type VIIB, 607641, Perry syndrome, Neuropathy, distal hereditary motor, type VIIB, Perry syndrome, 168605, {Amyotrophic lateral sclerosis, susceptibility to}, 105400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 DCAF17 Nick Beauchamp reviewed gene: DCAF17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Woodhouse-Sakati syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 DARS2 Nick Beauchamp reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 19592391; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 DARS Nick Beauchamp reviewed gene: DARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Brain stem and spinal cord Hypomyelination, leg spasticity, Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 DAB1 Nick Beauchamp reviewed gene: DAB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 37, 615945; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 CYP7B1 Nick Beauchamp reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 5A, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 CYP2U1 Nick Beauchamp reviewed gene: CYP2U1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients., Spastic paraplegia 56, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 CYP27A1 Nick Beauchamp reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebrotendinous xanthomatosis, 213700, progressive lower extremity spasticity,often disproportionate to any degree of weakness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 CWF19L1 Nick Beauchamp reviewed gene: CWF19L1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, autosomal recessive 17, 616127; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 CSTB Nick Beauchamp reviewed gene: CSTB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 1A, 254800, Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800, microcephaly and severe dyskinesia, 26843564; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 CSF1R Nick Beauchamp reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: 22197934, 23038421; Phenotypes: dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy, Dementia, diffuse leukoencephalopathy with spheroids; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 CP Nick Beauchamp reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: 7708681, 3574673; Phenotypes: Dystonia, Aceruloplasminemia, Cerebellar ataxia, 604290, Hemosiderosis, systemic, due to aceruloplasminemia, 604290; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 COX20 Nick Beauchamp reviewed gene: COX20: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex IV deficiency, 220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 COQ8A Nick Beauchamp reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: ; Publications: 24048965, 29915382; Phenotypes: Coenzyme Q10 deficiency, primary 4, 612016, Spinocerebellar Ataxia Type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 COG5 Nick Beauchamp reviewed gene: COG5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Iii, 613612; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 COASY Nick Beauchamp reviewed gene: COASY: Rating: RED; Mode of pathogenicity: ; Publications: 28489334, 24360804; Phenotypes: COASY protein-associated neurodegeneration, Neurodegeneration with brain iron accumulation 6; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 CLP1 Nick Beauchamp reviewed gene: CLP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 10 (#615803); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 CLN6 Nick Beauchamp reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: 26115733, 30561534; Phenotypes: Ceroid lipofuscinosis, neuronal, 6, 601780, Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 CLCN2 Nick Beauchamp reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: 23707145; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 CIZ1 Nick Beauchamp reviewed gene: CIZ1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia 23, 614860; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 CHMP2B Nick Beauchamp reviewed gene: CHMP2B: Rating: GREEN; Mode of pathogenicity: ; Publications: 16041373, 17956895; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 CHMP1A Nick Beauchamp reviewed gene: CHMP1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia, type 8, 614961; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 CHCHD2 Nick Beauchamp reviewed gene: CHCHD2: Rating: GREEN; Mode of pathogenicity: ; Publications: 26705026, 25662902; Phenotypes: Parkinson disease 22, autosomal dominant, 616710; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 CHCHD10 Nick Beauchamp reviewed gene: CHCHD10: Rating: GREEN; Mode of pathogenicity: ; Publications: 24934289, 25576308, 25113787, 27810918; Phenotypes: ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 CDK16 Nick Beauchamp reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Intellectual disability and spastic paraplegia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.72 CCT5 Nick Beauchamp reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia, Sensory Neuropathy with Spastic Paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 CCNF Nick Beauchamp reviewed gene: CCNF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Frontotemporal dementia / amyotrophic lateral sclerosis; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 CCDC88C Nick Beauchamp reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: ; Publications: 30398676, 25062847; Phenotypes: autosomal dominant spinocerebellar ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 CASK Nick Beauchamp reviewed gene: CASK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: FG syndrome 4, 300422, Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.72 CAPN1 Nick Beauchamp reviewed gene: CAPN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 76 autosomal recessive, 616907; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 CAMTA1 Nick Beauchamp reviewed gene: CAMTA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellarataxia, nonprogressive, with mental retardation, 614756; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 CACNB4 Nick Beauchamp reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Episodic ataxia, type 5, EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9, EPISODIC ATAXIA, TYPE 5, Episodic Ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 CACNA1G Nick Beauchamp reviewed gene: CACNA1G: Rating: GREEN; Mode of pathogenicity: ; Publications: 26456284, 26715324; Phenotypes: Spinocerebellar ataxia 42, 61679; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 CACNA1A Nick Beauchamp reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: episodic ataxia type 2 (EA2),108500, familial hemiplegic migraine type 1, 141500, Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, Dystonia, Spinocerebellar ataxia 6, Episodic ataxia, type 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 CA8 Nick Beauchamp reviewed gene: CA8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 C9orf72 Nick Beauchamp reviewed gene: C9orf72: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 C19orf12 Nick Beauchamp reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: ; Publications: 23278385; Phenotypes: mitochondrial membrane protein-associated neurodegeneration, Dystonia, neurodegeneration with brain iron accumulation-4, Neurodegeneration with brain iron accumulation 4; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 C12orf65 Nick Beauchamp reviewed gene: C12orf65: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spasticparaplegia55,autosomalrecessive,615035; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 BSCL2 Nick Beauchamp reviewed gene: BSCL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Silver spastic paraplegia syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 BEAN1 Nick Beauchamp reviewed gene: BEAN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 31, 117210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 BCAP31 Nick Beauchamp reviewed gene: BCAP31: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Deafness, dystonia and cerebellar hypomyelination, 300475; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 B4GALNT1 Nick Beauchamp reviewed gene: B4GALNT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 26, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 AUH Nick Beauchamp reviewed gene: AUH: Rating: GREEN; Mode of pathogenicity: ; Publications: 20855850; Phenotypes: Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ATXN8 Nick Beauchamp reviewed gene: ATXN8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 8, 608768; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 ATXN7 Nick Beauchamp reviewed gene: ATXN7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia7,164500; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 ATXN3 Nick Beauchamp reviewed gene: ATXN3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: familial parkinsonism, (CAGexpansion); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 ATXN2 Nick Beauchamp reviewed gene: ATXN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 ATXN10 Nick Beauchamp reviewed gene: ATXN10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia10, 603516; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 ATXN1 Nick Beauchamp reviewed gene: ATXN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia1, 164400; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 ATP8A2 Nick Beauchamp reviewed gene: ATP8A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ATP7B Nick Beauchamp reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: ; Publications: 29213604; Phenotypes: Wilson disease 277900, Dystonia, Wilson Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 ATP6AP2 Nick Beauchamp reviewed gene: ATP6AP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Parkinsonism with spasticity, X-linked 300911, Mental retardation, X-linked, syndromic, Hedera type 300423; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.72 ATP2B3 Nick Beauchamp reviewed gene: ATP2B3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, X-linked 1; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 ATP1A3 Nick Beauchamp reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 15260953; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 ATP1A2 Nick Beauchamp reviewed gene: ATP1A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, alternating hemiplegia of childhood 104290, familial basilar migraine 602481, migraine, familial hemiplegic migraine type 2, 602481; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 ATP13A2 Nick Beauchamp reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: 21060012, 16964263; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 ATN1 Nick Beauchamp reviewed gene: ATN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dentatorubro-pallidoluysian atrophy 125370; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 ATM Nick Beauchamp reviewed gene: ATM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Ataxia-Telangiectasia, Ataxia telangiectasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ATL1 Nick Beauchamp reviewed gene: ATL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 3A, autosomal dominant,, Spastic Paraplegia, Dominant, Spastic paraplegia 3A, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 ATCAY Nick Beauchamp reviewed gene: ATCAY: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, cerebellar, Cayman type, Cerebellar Ataxia, Cayman type; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ARX Nick Beauchamp reviewed gene: ARX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 ARSI Nick Beauchamp reviewed gene: ARSI: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ARSA Nick Beauchamp reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Metachromatic leukodystrophy (#250100), Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 ARL6IP1 Nick Beauchamp reviewed gene: ARL6IP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ARG1 Nick Beauchamp reviewed gene: ARG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Argininaemia, 207800, Progressive spastic tetraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 AR Nick Beauchamp reviewed gene: AR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinal and bulbar muscular atrophy of Kennedy, 313200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.72 APTX Nick Beauchamp reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: ; Publications: 14506070; Phenotypes: Ataxia with Oculomotor Apraxia, Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, Dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 APP Nick Beauchamp reviewed gene: APP: Rating: GREEN; Mode of pathogenicity: ; Publications: 2111584; Phenotypes: Clinical syndrome Alzheimer disease, Dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 AP5Z1 Nick Beauchamp reviewed gene: AP5Z1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic Paraplegia, Recessive, Spastic paraplegia 48, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 AP4S1 Nick Beauchamp reviewed gene: AP4S1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: developmental delay, seizures, Spastic paraplegia 52, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 AP4M1 Nick Beauchamp reviewed gene: AP4M1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 50, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 AP4E1 Nick Beauchamp reviewed gene: AP4E1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 51, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 AP4B1 Nick Beauchamp reviewed gene: AP4B1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 47, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 AP1S2 Nick Beauchamp reviewed gene: AP1S2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Mental retardation, X-linked syndromic 5, 304340; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.72 ANO3 Nick Beauchamp reviewed gene: ANO3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia 24, 615034, familial form of cranio-cervical dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 ANO10 Nick Beauchamp reviewed gene: ANO10: Rating: GREEN; Mode of pathogenicity: ; Publications: 25182700; Phenotypes: Spinocerebellar ataxia, autosomal recessive 10, 613728; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 ANG Nick Beauchamp reviewed gene: ANG: Rating: GREEN; Mode of pathogenicity: ; Publications: 16501576, 17886298; Phenotypes: Amyotrophic lateral sclerosis 9, 611895, Amyotrophic Lateral Sclerosis, Dominant, familial amyotrophic lateral sclerosis (ALS9); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 AMPD2 Nick Beauchamp reviewed gene: AMPD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ALS2 Nick Beauchamp reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11586298; Phenotypes: Primary lateral sclerosis, juvenile, 606353, Spastic paralysis, infantile onset ascending, 607225, Amyotrophic lateral sclerosis 2, juvenile, 205100, Amyotrophic Lateral Sclerosis, Recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 ALDH18A1 Nick Beauchamp reviewed gene: ALDH18A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ALAS2 Nick Beauchamp reviewed gene: ALAS2: Rating: RED; 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)
Adult onset neurodegenerative disorder v1.72 AIMP1 Nick Beauchamp reviewed gene: AIMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 3, 260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 AFG3L2 Nick Beauchamp reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 28, Spinocerebellar Ataxia, Dominant, Ataxia, spastic, 5, autosomal recessive, Dystonia, Spastic ataxia 5, autosomal recessive; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 ADCY5 Nick Beauchamp reviewed gene: ADCY5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: dystonia, Familial dyskinesia 606703, Dyskinesia, familial, with facial myokymia, 606703; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.72 ADAR Nick Beauchamp reviewed gene: ADAR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, 615010, dystonia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.72 ACTB Nick Beauchamp reviewed gene: ACTB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, juvenile-onset, 607371, Baraitser-Winter syndrome 1, 243310; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.72 ABHD12 Nick Beauchamp reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: ; Publications: 20797687; Phenotypes: Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC), Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 ABCD1 Nick Beauchamp reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, adrenal failure, VLCFA accumulation, spastic paraparesis; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes
Adult onset neurodegenerative disorder v1.72 ABCB7 Nick Beauchamp reviewed gene: ABCB7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Anemia, sideroblastic, with ataxia, Sideroblastic Anemia and Ataxia; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.72 AARS Nick Beauchamp reviewed gene: AARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.72 AAAS Nick Beauchamp reviewed gene: AAAS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Achalasia-addisonianism-alacrimia syndrome, 231550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Sarcoma cancer susceptibility v1.14 Rebecca Foulger Panel types changed to Cancer Germline 100K
Sarcoma susceptibility v0.3 Rebecca Foulger Panel status changed from internal to public
Sarcoma susceptibility v0.2 ERCC2 Rebecca Foulger reviewed gene: ERCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 ATR Rebecca Foulger reviewed gene: ATR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 ATM Rebecca Foulger reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 BRCA2 Rebecca Foulger reviewed gene: BRCA2: Rating: AMBER; Mode of pathogenicity: ; Publications: 17224268; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 SMARCB1 Rebecca Foulger reviewed gene: SMARCB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 SMARCA4 Rebecca Foulger reviewed gene: SMARCA4: Rating: AMBER; Mode of pathogenicity: ; Publications: 31190001; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 BLM Rebecca Foulger reviewed gene: BLM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 PTEN Rebecca Foulger reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 APC Rebecca Foulger reviewed gene: APC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Gardner syndrome; Mode of inheritance:
Sarcoma susceptibility v0.2 NF1 Rebecca Foulger reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 EXT2 Rebecca Foulger reviewed gene: EXT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 EXT1 Rebecca Foulger reviewed gene: EXT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 TP53 Rebecca Foulger reviewed gene: TP53: Rating: GREEN; Mode of pathogenicity: ; Publications: 28338660, 27050224; Phenotypes: Li-Fraumeni; Mode of inheritance:
Sarcoma susceptibility v0.2 T Rebecca Foulger reviewed gene: T: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 SQSTM1 Rebecca Foulger reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 RECQL4 Rebecca Foulger reviewed gene: RECQL4: Rating: GREEN; Mode of pathogenicity: ; Publications: 28338660; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 PDGFRA Rebecca Foulger reviewed gene: PDGFRA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.2 MTAP Rebecca Foulger reviewed gene: MTAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Sarcoma susceptibility v0.1 Rebecca Foulger Panel types changed to GMS Cancer Germline Virtual
Sarcoma susceptibility v0.0 ERCC2 Rebecca Foulger gene: ERCC2 was added
gene: ERCC2 was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: ERCC2 was set to
Publications for gene: ERCC2 were set to 27498913
Sarcoma susceptibility v0.0 ATR Rebecca Foulger gene: ATR was added
gene: ATR was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: ATR was set to
Publications for gene: ATR were set to 27498913
Sarcoma susceptibility v0.0 ATM Rebecca Foulger gene: ATM was added
gene: ATM was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: ATM was set to
Publications for gene: ATM were set to 27498913
Sarcoma susceptibility v0.0 BRCA2 Rebecca Foulger gene: BRCA2 was added
gene: BRCA2 was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: BRCA2 was set to
Publications for gene: BRCA2 were set to 17224268; 27498913
Sarcoma susceptibility v0.0 SMARCB1 Rebecca Foulger gene: SMARCB1 was added
gene: SMARCB1 was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: SMARCB1 was set to
Phenotypes for gene: SMARCB1 were set to Rhabdoid tu, schwannomatosis
Sarcoma susceptibility v0.0 SMARCA4 Rebecca Foulger gene: SMARCA4 was added
gene: SMARCA4 was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: SMARCA4 was set to
Publications for gene: SMARCA4 were set to 31190001
Phenotypes for gene: SMARCA4 were set to undifferentiated uterine sarcoma
Sarcoma susceptibility v0.0 BLM Rebecca Foulger gene: BLM was added
gene: BLM was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: BLM was set to
Publications for gene: BLM were set to 28338660
Phenotypes for gene: BLM were set to Bloom
Sarcoma susceptibility v0.0 PTEN Rebecca Foulger gene: PTEN was added
gene: PTEN was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: PTEN was set to
Phenotypes for gene: PTEN were set to Paraganglioma
Sarcoma susceptibility v0.0 APC Rebecca Foulger gene: APC was added
gene: APC was added to Sarcoma susceptibility. Sources: Expert list,Expert Review Amber
Mode of inheritance for gene: APC was set to
Phenotypes for gene: APC were set to Gardner / fibromatosis; Gardner syndrome
Sarcoma susceptibility v0.0 WT1 Rebecca Foulger gene: WT1 was added
gene: WT1 was added to Sarcoma susceptibility. Sources: Expert Review Red
Mode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: WT1 were set to Wilms tumour 1, 194070
Sarcoma susceptibility v0.0 TNFRSF11A Rebecca Foulger gene: TNFRSF11A was added
gene: TNFRSF11A was added to Sarcoma susceptibility. Sources: Expert Review Red
Mode of inheritance for gene: TNFRSF11A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TNFRSF11A were set to 15758393; 12673693; 11351498
Phenotypes for gene: TNFRSF11A were set to Paget disease of bone; Polyostotic osteolytic dysplasia (hereditary expansile); Osteosarcoma
Sarcoma susceptibility v0.0 PAX7 Rebecca Foulger gene: PAX7 was added
gene: PAX7 was added to Sarcoma susceptibility. Sources: Expert Review Red
Mode of inheritance for gene: PAX7 was set to Other - please specifiy in evaluation comments
Publications for gene: PAX7 were set to 25768946
Phenotypes for gene: PAX7 were set to Rhabdomyosarcoma 2, alveolar, 268220
Sarcoma susceptibility v0.0 PAX3 Rebecca Foulger gene: PAX3 was added
gene: PAX3 was added to Sarcoma susceptibility. Sources: Expert Review Red
Mode of inheritance for gene: PAX3 was set to Other - please specifiy in evaluation comments
Publications for gene: PAX3 were set to 25768946
Phenotypes for gene: PAX3 were set to Rhabdomyosarcoma, alveolar, 268220
Sarcoma susceptibility v0.0 KRAS Rebecca Foulger gene: KRAS was added
gene: KRAS was added to Sarcoma susceptibility. Sources: Expert Review Red
Mode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KRAS were set to Nevus, Epidermal 162900
Sarcoma susceptibility v0.0 FOXO1 Rebecca Foulger gene: FOXO1 was added
gene: FOXO1 was added to Sarcoma susceptibility. Sources: Expert Review Red
Mode of inheritance for gene: FOXO1 was set to Other - please specifiy in evaluation comments
Publications for gene: FOXO1 were set to 25768946
Phenotypes for gene: FOXO1 were set to Rhabdomyosarcoma, alveolar, 268220
Sarcoma susceptibility v0.0 DICER1 Rebecca Foulger gene: DICER1 was added
gene: DICER1 was added to Sarcoma susceptibility. Sources: Expert Review Red
Mode of inheritance for gene: DICER1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DICER1 were set to 30989777
Phenotypes for gene: DICER1 were set to Pleuropulmonary blastoma, 601200; Rhabdomyosarcoma, embryonal, 2, 180295
Sarcoma susceptibility v0.0 CREBBP Rebecca Foulger gene: CREBBP was added
gene: CREBBP was added to Sarcoma susceptibility. Sources: Expert Review Red
Mode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome 1, 180849
Sarcoma susceptibility v0.0 WRN Rebecca Foulger gene: WRN was added
gene: WRN was added to Sarcoma susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WRN were set to 28338660
Phenotypes for gene: WRN were set to Werner syndrome 277700
Sarcoma susceptibility v0.0 SDHD Rebecca Foulger gene: SDHD was added
gene: SDHD was added to Sarcoma susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma susceptibility v0.0 SDHC Rebecca Foulger gene: SDHC was added
gene: SDHC was added to Sarcoma susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma susceptibility v0.0 SDHB Rebecca Foulger gene: SDHB was added
gene: SDHB was added to Sarcoma susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma susceptibility v0.0 SDHA Rebecca Foulger gene: SDHA was added
gene: SDHA was added to Sarcoma susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: SDHA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma susceptibility v0.0 RB1 Rebecca Foulger gene: RB1 was added
gene: RB1 was added to Sarcoma susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RB1 were set to 28338660
Phenotypes for gene: RB1 were set to Retinoblastoma, 180200
Sarcoma susceptibility v0.0 PMS2 Rebecca Foulger gene: PMS2 was added
gene: PMS2 was added to Sarcoma susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: PMS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMS2 were set to 27050224
Phenotypes for gene: PMS2 were set to Mismatch repair cancer syndrome, 276300
Sarcoma susceptibility v0.0 NF1 Rebecca Foulger gene: NF1 was added
gene: NF1 was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: NF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: NF1 were set to Neurofibromatosis, type 1 162200
Sarcoma susceptibility v0.0 NBN Rebecca Foulger gene: NBN was added
gene: NBN was added to Sarcoma susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NBN were set to Nijmegen breakage syndrome, 251260
Sarcoma susceptibility v0.0 MSH6 Rebecca Foulger gene: MSH6 was added
gene: MSH6 was added to Sarcoma susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: MSH6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MSH6 were set to Mismatch repair cancer syndrome, 276300
Sarcoma susceptibility v0.0 MSH2 Rebecca Foulger gene: MSH2 was added
gene: MSH2 was added to Sarcoma susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: MSH2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MSH2 were set to Mismatch repair cancer syndrome, 276300
Sarcoma susceptibility v0.0 MLH1 Rebecca Foulger gene: MLH1 was added
gene: MLH1 was added to Sarcoma susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: MLH1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MLH1 were set to Mismatch repair cancer syndrome, 276300
Sarcoma susceptibility v0.0 KIT Rebecca Foulger gene: KIT was added
gene: KIT was added to Sarcoma susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: KIT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sarcoma susceptibility v0.0 HRAS Rebecca Foulger gene: HRAS was added
gene: HRAS was added to Sarcoma susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HRAS were set to Costello syndrome, 218040
Sarcoma susceptibility v0.0 FH Rebecca Foulger gene: FH was added
gene: FH was added to Sarcoma susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: FH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FH were set to Leiomyomatosis and renal cell cancer 150800
Sarcoma susceptibility v0.0 EXT2 Rebecca Foulger gene: EXT2 was added
gene: EXT2 was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: EXT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EXT2 were set to 27636706; 7726168; 29529714; 23770606
Phenotypes for gene: EXT2 were set to Exostoses, multiple, type 2
Sarcoma susceptibility v0.0 EXT1 Rebecca Foulger gene: EXT1 was added
gene: EXT1 was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: EXT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: EXT1 were set to 23770606; 29529714; 10441575
Phenotypes for gene: EXT1 were set to Chondrosarcoma 215300
Sarcoma susceptibility v0.0 CDKN1C Rebecca Foulger gene: CDKN1C was added
gene: CDKN1C was added to Sarcoma susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CDKN1C were set to Beckwith-Wiedemann syndrome, 130650
Sarcoma susceptibility v0.0 BUB1B Rebecca Foulger gene: BUB1B was added
gene: BUB1B was added to Sarcoma susceptibility. Sources: Expert Review Amber
Mode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BUB1B were set to Mosaic variegated aneuploidy syndrome 1, 257300
Sarcoma susceptibility v0.0 TP53 Rebecca Foulger gene: TP53 was added
gene: TP53 was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: TP53 were set to 27050224; 28338660
Phenotypes for gene: TP53 were set to Sarcoma; Li-Fraumeni syndrome, 151623
Sarcoma susceptibility v0.0 T Rebecca Foulger gene: T was added
gene: T was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: T was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: T were set to 23064415; 19801981
Phenotypes for gene: T were set to Familial Chordoma; Chordoma
Sarcoma susceptibility v0.0 SQSTM1 Rebecca Foulger gene: SQSTM1 was added
gene: SQSTM1 was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: SQSTM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SQSTM1 were set to 21437228; 11473345; 9345096; 12374763
Phenotypes for gene: SQSTM1 were set to Osteosarcoma; Paget disease of bone 3 167250
Sarcoma susceptibility v0.0 RECQL4 Rebecca Foulger gene: RECQL4 was added
gene: RECQL4 was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: RECQL4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RECQL4 were set to 12734318; 17264332; 12612652; 28338660
Phenotypes for gene: RECQL4 were set to Rothmund-Thomson, Beller-Gerold and RAPADALINO syndromes; Osteosarcoma
Sarcoma susceptibility v0.0 PDGFRA Rebecca Foulger gene: PDGFRA was added
gene: PDGFRA was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: PDGFRA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PDGFRA were set to 26297068; 14699510; 17566086; 25975287
Phenotypes for gene: PDGFRA were set to Gastrointestinal stromal tumor, somatic 606764; Familial GIST
Sarcoma susceptibility v0.0 MTAP Rebecca Foulger gene: MTAP was added
gene: MTAP was added to Sarcoma susceptibility. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: MTAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MTAP were set to 19197386; 22464254
Phenotypes for gene: MTAP were set to Diaphyseal medullary stenosis with malignant fibrous histiocytoma 112250; UPS of bone
Sarcoma susceptibility v0.0 Rebecca Foulger Added panel Sarcoma susceptibility
Adult onset neurodegenerative disorder v1.71 COQ2 Louise Daugherty Phenotypes for gene: COQ2 were changed from 146500; Multiple system atrophy, susceptibility to to Multiple system atrophy, susceptibility to, 146500
Adult onset neurodegenerative disorder v1.70 VPS13C Louise Daugherty Mode of inheritance for gene VPS13C was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 616840; Parkinson disease 23, autosomal recessive, early onset for gene: VPS13C
Publications for gene VPS13C were changed from to 26942284; 28137300; 28862745
Adult onset neurodegenerative disorder v1.70 DNAJC13 Louise Daugherty Mode of inheritance for gene DNAJC13 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene DNAJC13 were changed from to 24218364; 25186792; 30537300
Adult onset neurodegenerative disorder v1.70 COQ2 Louise Daugherty Mode of inheritance for gene COQ2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 146500; Multiple system atrophy, susceptibility to for gene: COQ2
Publications for gene COQ2 were changed from to 23758206
Adult onset neurodegenerative disorder v1.70 TUBA4A Louise Daugherty Mode of inheritance for gene TUBA4A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, 616208 for gene: TUBA4A
Publications for gene TUBA4A were changed from to 25374358; 28069311; 25893256
Adult onset neurodegenerative disorder v1.70 TAF15 Louise Daugherty Mode of inheritance for gene TAF15 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Amyotrophic lateral sclerosis for gene: TAF15
Publications for gene TAF15 were changed from to 22065782; 26601740
Adult onset neurodegenerative disorder v1.70 PRPH Louise Daugherty Mode of inheritance for gene PRPH was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 170710; Amyotrophic lateral sclerosis, susceptibility to for gene: PRPH
Publications for gene PRPH were changed from to 25299611; 15446584; 15322088
Adult onset neurodegenerative disorder v1.70 NEK1 Louise Daugherty Mode of inheritance for gene NEK1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Amyotrophic lateral sclerosis, susceptibility to, 24; 617892 for gene: NEK1
Publications for gene NEK1 were changed from to 29650794; 26945885; 30093141
Adult onset neurodegenerative disorder v1.70 MATR3 Louise Daugherty Mode of inheritance for gene MATR3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Amyotrophic lateral sclerosis 21 for gene: MATR3
Publications for gene MATR3 were changed from to 25771394; 26493020; 28029397
Adult onset neurodegenerative disorder v1.70 HNRNPA2B1 Louise Daugherty Mode of inheritance for gene HNRNPA2B1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Amyotrophic lateral sclerosis for gene: HNRNPA2B1
Publications for gene HNRNPA2B1 were changed from to 25299611; 23455423; 27773581
Adult onset neurodegenerative disorder v1.70 EWSR1 Louise Daugherty Mode of inheritance for gene EWSR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Amyotrophic lateral sclerosis for gene: EWSR1
Publications for gene EWSR1 were changed from to 29170628; 22454397
Adult onset neurodegenerative disorder v1.70 DAO Louise Daugherty Mode of inheritance for gene DAO was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Amyotrophic lateral sclerosis for gene: DAO
Publications for gene DAO were changed from to 29194436; 20368421
Adult onset neurodegenerative disorder v1.70 ARHGEF28 Louise Daugherty Mode of inheritance for gene ARHGEF28 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Amyotrophic lateral sclerosis for gene: ARHGEF28
Publications for gene ARHGEF28 were changed from to 23286752; 24712971; 28709720; 27154192
Adult onset neurodegenerative disorder v1.70 ANXA11 Louise Daugherty Mode of inheritance for gene ANXA11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Amytrophic lateral sclerosis 23; 617839 for gene: ANXA11
Publications for gene ANXA11 were changed from to 28469040; 30337194; 29845112
Adult onset neurodegenerative disorder v1.70 SS18L1 Louise Daugherty Mode of inheritance for gene SS18L1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Amyotrophic lateral sclerosis 105400 for gene: SS18L1
Publications for gene SS18L1 were changed from to 23708140; 24360741
Adult onset neurodegenerative disorder v1.69 VPS53 Louise Daugherty Source NHS GMS was added to VPS53.
Adult onset neurodegenerative disorder v1.69 TBP Louise Daugherty Source NHS GMS was added to TBP.
Adult onset neurodegenerative disorder v1.69 SNCB Louise Daugherty Source NHS GMS was added to SNCB.
Adult onset neurodegenerative disorder v1.69 PPP2R2B Louise Daugherty Source NHS GMS was added to PPP2R2B.
Adult onset neurodegenerative disorder v1.69 NT5C2 Louise Daugherty Source NHS GMS was added to NT5C2.
Adult onset neurodegenerative disorder v1.69 NR4A2 Louise Daugherty Source NHS GMS was added to NR4A2.
Adult onset neurodegenerative disorder v1.69 NOP56 Louise Daugherty Source NHS GMS was added to NOP56.
Adult onset neurodegenerative disorder v1.69 NKX2-1 Louise Daugherty Source NHS GMS was added to NKX2-1.
Adult onset neurodegenerative disorder v1.69 NDUFA12 Louise Daugherty Source NHS GMS was added to NDUFA12.
Adult onset neurodegenerative disorder v1.69 NAGLU Louise Daugherty Source NHS GMS was added to NAGLU.
Adult onset neurodegenerative disorder v1.69 MTPAP Louise Daugherty Source NHS GMS was added to MTPAP.
Adult onset neurodegenerative disorder v1.69 MT-ND6 Louise Daugherty Source NHS GMS was added to MT-ND6.
Adult onset neurodegenerative disorder v1.69 MPV17 Louise Daugherty Source NHS GMS was added to MPV17.
Adult onset neurodegenerative disorder v1.69 MMADHC Louise Daugherty Source NHS GMS was added to MMADHC.
Adult onset neurodegenerative disorder v1.69 MCOLN1 Louise Daugherty Source NHS GMS was added to MCOLN1.
Adult onset neurodegenerative disorder v1.69 MAT1A Louise Daugherty Source NHS GMS was added to MAT1A.
Adult onset neurodegenerative disorder v1.69 MARS Louise Daugherty Source NHS GMS was added to MARS.
Adult onset neurodegenerative disorder v1.69 L2HGDH Louise Daugherty Source NHS GMS was added to L2HGDH.
Adult onset neurodegenerative disorder v1.69 KLC4 Louise Daugherty Source NHS GMS was added to KLC4.
Adult onset neurodegenerative disorder v1.69 JPH3 Louise Daugherty Source NHS GMS was added to JPH3.
Adult onset neurodegenerative disorder v1.69 HTT Louise Daugherty Source NHS GMS was added to HTT.
Adult onset neurodegenerative disorder v1.69 HPRT1 Louise Daugherty Source NHS GMS was added to HPRT1.
Adult onset neurodegenerative disorder v1.69 HFE Louise Daugherty Source NHS GMS was added to HFE.
Adult onset neurodegenerative disorder v1.69 GIGYF2 Louise Daugherty Source NHS GMS was added to GIGYF2.
Adult onset neurodegenerative disorder v1.69 GCDH Louise Daugherty Source NHS GMS was added to GCDH.
Adult onset neurodegenerative disorder v1.69 GAMT Louise Daugherty Source NHS GMS was added to GAMT.
Adult onset neurodegenerative disorder v1.69 GAD1 Louise Daugherty Source NHS GMS was added to GAD1.
Adult onset neurodegenerative disorder v1.69 FOXRED1 Louise Daugherty Source NHS GMS was added to FOXRED1.
Adult onset neurodegenerative disorder v1.69 FOXG1 Louise Daugherty Source NHS GMS was added to FOXG1.
Adult onset neurodegenerative disorder v1.69 FASTKD2 Louise Daugherty Source NHS GMS was added to FASTKD2.
Adult onset neurodegenerative disorder v1.69 ERLIN1 Louise Daugherty Source NHS GMS was added to ERLIN1.
Adult onset neurodegenerative disorder v1.69 ERCC6 Louise Daugherty Source NHS GMS was added to ERCC6.
Adult onset neurodegenerative disorder v1.69 ERBB4 Louise Daugherty Source NHS GMS was added to ERBB4.
Adult onset neurodegenerative disorder v1.69 ENTPD1 Louise Daugherty Source NHS GMS was added to ENTPD1.
Adult onset neurodegenerative disorder v1.69 ELOVL5 Louise Daugherty Source NHS GMS was added to ELOVL5.
Adult onset neurodegenerative disorder v1.69 EIF4G1 Louise Daugherty Source NHS GMS was added to EIF4G1.
Adult onset neurodegenerative disorder v1.69 EARS2 Louise Daugherty Source NHS GMS was added to EARS2.
Adult onset neurodegenerative disorder v1.69 DYNC1H1 Louise Daugherty Source NHS GMS was added to DYNC1H1.
Adult onset neurodegenerative disorder v1.69 DSTYK Louise Daugherty Source NHS GMS was added to DSTYK.
Adult onset neurodegenerative disorder v1.69 DRD5 Louise Daugherty Source NHS GMS was added to DRD5.
Adult onset neurodegenerative disorder v1.69 BEAN1 Louise Daugherty Source NHS GMS was added to BEAN1.
Adult onset neurodegenerative disorder v1.69 AR Louise Daugherty Source NHS GMS was added to AR.
Adult onset neurodegenerative disorder v1.67 ZFYVE26 Louise Daugherty Source Yorkshire and North East GLH was added to ZFYVE26.
Adult onset neurodegenerative disorder v1.67 YY1 Louise Daugherty Source Yorkshire and North East GLH was added to YY1.
Adult onset neurodegenerative disorder v1.67 XPR1 Louise Daugherty Source Yorkshire and North East GLH was added to XPR1.
Adult onset neurodegenerative disorder v1.67 WWOX Louise Daugherty Source Yorkshire and North East GLH was added to WWOX.
Adult onset neurodegenerative disorder v1.67 WFS1 Louise Daugherty Source Yorkshire and North East GLH was added to WFS1.
Adult onset neurodegenerative disorder v1.67 WDR81 Louise Daugherty Source Yorkshire and North East GLH was added to WDR81.
Adult onset neurodegenerative disorder v1.67 WDR73 Louise Daugherty Source Yorkshire and North East GLH was added to WDR73.
Adult onset neurodegenerative disorder v1.67 WDR45B Louise Daugherty Source Yorkshire and North East GLH was added to WDR45B.
Adult onset neurodegenerative disorder v1.67 WDR45 Louise Daugherty Source Yorkshire and North East GLH was added to WDR45.
Adult onset neurodegenerative disorder v1.67 WASHC5 Louise Daugherty Source Yorkshire and North East GLH was added to WASHC5.
Adult onset neurodegenerative disorder v1.67 VRK1 Louise Daugherty Source Yorkshire and North East GLH was added to VRK1.
Adult onset neurodegenerative disorder v1.67 VPS53 Louise Daugherty Source Yorkshire and North East GLH was added to VPS53.
Adult onset neurodegenerative disorder v1.67 VPS35 Louise Daugherty Source Yorkshire and North East GLH was added to VPS35.
Adult onset neurodegenerative disorder v1.67 VPS13D Louise Daugherty Source Yorkshire and North East GLH was added to VPS13D.
Adult onset neurodegenerative disorder v1.67 VPS13A Louise Daugherty Source Yorkshire and North East GLH was added to VPS13A.
Adult onset neurodegenerative disorder v1.67 VLDLR Louise Daugherty Source Yorkshire and North East GLH was added to VLDLR.
Adult onset neurodegenerative disorder v1.67 VCP Louise Daugherty Source Yorkshire and North East GLH was added to VCP.
Adult onset neurodegenerative disorder v1.67 VAPB Louise Daugherty Source Yorkshire and North East GLH was added to VAPB.
Adult onset neurodegenerative disorder v1.67 VAMP1 Louise Daugherty Source Yorkshire and North East GLH was added to VAMP1.
Adult onset neurodegenerative disorder v1.67 VAC14 Louise Daugherty Source Yorkshire and North East GLH was added to VAC14.
Adult onset neurodegenerative disorder v1.67 UBQLN2 Louise Daugherty Source Yorkshire and North East GLH was added to UBQLN2.
Adult onset neurodegenerative disorder v1.67 TYROBP Louise Daugherty Source Yorkshire and North East GLH was added to TYROBP.
Adult onset neurodegenerative disorder v1.67 TWNK Louise Daugherty Source Yorkshire and North East GLH was added to TWNK.
Adult onset neurodegenerative disorder v1.67 TUBB4A Louise Daugherty Source Yorkshire and North East GLH was added to TUBB4A.
Adult onset neurodegenerative disorder v1.67 TTPA Louise Daugherty Source Yorkshire and North East GLH was added to TTPA.
Adult onset neurodegenerative disorder v1.67 TTC19 Louise Daugherty Source Yorkshire and North East GLH was added to TTC19.
Adult onset neurodegenerative disorder v1.67 TTBK2 Louise Daugherty Source Yorkshire and North East GLH was added to TTBK2.
Adult onset neurodegenerative disorder v1.67 TSEN54 Louise Daugherty Source Yorkshire and North East GLH was added to TSEN54.
Adult onset neurodegenerative disorder v1.67 TSEN2 Louise Daugherty Source Yorkshire and North East GLH was added to TSEN2.
Adult onset neurodegenerative disorder v1.67 TREM2 Louise Daugherty Source Yorkshire and North East GLH was added to TREM2.
Adult onset neurodegenerative disorder v1.67 TPP1 Louise Daugherty Source Yorkshire and North East GLH was added to TPP1.
Adult onset neurodegenerative disorder v1.67 TOR1A Louise Daugherty Source Yorkshire and North East GLH was added to TOR1A.
Adult onset neurodegenerative disorder v1.67 TMEM240 Louise Daugherty Source Yorkshire and North East GLH was added to TMEM240.
Adult onset neurodegenerative disorder v1.67 THAP1 Louise Daugherty Source Yorkshire and North East GLH was added to THAP1.
Adult onset neurodegenerative disorder v1.67 TH Louise Daugherty Source Yorkshire and North East GLH was added to TH.
Adult onset neurodegenerative disorder v1.67 TGM6 Louise Daugherty Source Yorkshire and North East GLH was added to TGM6.
Adult onset neurodegenerative disorder v1.67 TBP Louise Daugherty Source Yorkshire and North East GLH was added to TBP.
Adult onset neurodegenerative disorder v1.67 TBK1 Louise Daugherty Source Yorkshire and North East GLH was added to TBK1.
Adult onset neurodegenerative disorder v1.67 TARDBP Louise Daugherty Source Yorkshire and North East GLH was added to TARDBP.
Adult onset neurodegenerative disorder v1.67 TAF1 Louise Daugherty Source Yorkshire and North East GLH was added to TAF1.
Adult onset neurodegenerative disorder v1.67 SYNJ1 Louise Daugherty Source Yorkshire and North East GLH was added to SYNJ1.
Adult onset neurodegenerative disorder v1.67 SYNE1 Louise Daugherty Source Yorkshire and North East GLH was added to SYNE1.
Adult onset neurodegenerative disorder v1.67 STUB1 Louise Daugherty Source Yorkshire and North East GLH was added to STUB1.
Adult onset neurodegenerative disorder v1.67 SRD5A3 Louise Daugherty Source Yorkshire and North East GLH was added to SRD5A3.
Adult onset neurodegenerative disorder v1.67 SQSTM1 Louise Daugherty Source Yorkshire and North East GLH was added to SQSTM1.
Adult onset neurodegenerative disorder v1.67 SPTBN2 Louise Daugherty Source Yorkshire and North East GLH was added to SPTBN2.
Adult onset neurodegenerative disorder v1.67 SPR Louise Daugherty Source Yorkshire and North East GLH was added to SPR.
Adult onset neurodegenerative disorder v1.67 SPG7 Louise Daugherty Source Yorkshire and North East GLH was added to SPG7.
Adult onset neurodegenerative disorder v1.67 SPG21 Louise Daugherty Source Yorkshire and North East GLH was added to SPG21.
Adult onset neurodegenerative disorder v1.67 SPG11 Louise Daugherty Source Yorkshire and North East GLH was added to SPG11.
Adult onset neurodegenerative disorder v1.67 SPAST Louise Daugherty Source Yorkshire and North East GLH was added to SPAST.
Adult onset neurodegenerative disorder v1.67 SPART Louise Daugherty Source Yorkshire and North East GLH was added to SPART.
Adult onset neurodegenerative disorder v1.67 SOD1 Louise Daugherty Source Yorkshire and North East GLH was added to SOD1.
Adult onset neurodegenerative disorder v1.67 SNX14 Louise Daugherty Source Yorkshire and North East GLH was added to SNX14.
Adult onset neurodegenerative disorder v1.67 SNCB Louise Daugherty Source Yorkshire and North East GLH was added to SNCB.
Adult onset neurodegenerative disorder v1.67 SNCA Louise Daugherty Source Yorkshire and North East GLH was added to SNCA.
Adult onset neurodegenerative disorder v1.67 SLC9A6 Louise Daugherty Source Yorkshire and North East GLH was added to SLC9A6.
Adult onset neurodegenerative disorder v1.67 SLC6A5 Louise Daugherty Source Yorkshire and North East GLH was added to SLC6A5.
Adult onset neurodegenerative disorder v1.67 SLC6A3 Louise Daugherty Source Yorkshire and North East GLH was added to SLC6A3.
Adult onset neurodegenerative disorder v1.67 SLC52A3 Louise Daugherty Source Yorkshire and North East GLH was added to SLC52A3.
Adult onset neurodegenerative disorder v1.67 SLC52A2 Louise Daugherty Source Yorkshire and North East GLH was added to SLC52A2.
Adult onset neurodegenerative disorder v1.67 SLC39A14 Louise Daugherty Source Yorkshire and North East GLH was added to SLC39A14.
Adult onset neurodegenerative disorder v1.67 SLC30A10 Louise Daugherty Source Yorkshire and North East GLH was added to SLC30A10.
Adult onset neurodegenerative disorder v1.67 SLC2A1 Louise Daugherty Source Yorkshire and North East GLH was added to SLC2A1.
Adult onset neurodegenerative disorder v1.67 SLC25A46 Louise Daugherty Source Yorkshire and North East GLH was added to SLC25A46.
Adult onset neurodegenerative disorder v1.67 SLC20A2 Louise Daugherty Source Yorkshire and North East GLH was added to SLC20A2.
Adult onset neurodegenerative disorder v1.67 SLC1A4 Louise Daugherty Source Yorkshire and North East GLH was added to SLC1A4.
Adult onset neurodegenerative disorder v1.67 SLC1A3 Louise Daugherty Source Yorkshire and North East GLH was added to SLC1A3.
Adult onset neurodegenerative disorder v1.67 SLC16A2 Louise Daugherty Source Yorkshire and North East GLH was added to SLC16A2.
Adult onset neurodegenerative disorder v1.67 SIL1 Louise Daugherty Source Yorkshire and North East GLH was added to SIL1.
Adult onset neurodegenerative disorder v1.67 SIGMAR1 Louise Daugherty Source Yorkshire and North East GLH was added to SIGMAR1.
Adult onset neurodegenerative disorder v1.67 SGCE Louise Daugherty Source Yorkshire and North East GLH was added to SGCE.
Adult onset neurodegenerative disorder v1.67 SETX Louise Daugherty Source Yorkshire and North East GLH was added to SETX.
Adult onset neurodegenerative disorder v1.67 SERAC1 Louise Daugherty Source Yorkshire and North East GLH was added to SERAC1.
Adult onset neurodegenerative disorder v1.67 SEPSECS Louise Daugherty Source Yorkshire and North East GLH was added to SEPSECS.
Adult onset neurodegenerative disorder v1.67 SCN8A Louise Daugherty Source Yorkshire and North East GLH was added to SCN8A.
Adult onset neurodegenerative disorder v1.67 SCN1A Louise Daugherty Source Yorkshire and North East GLH was added to SCN1A.
Adult onset neurodegenerative disorder v1.67 SAR1B Louise Daugherty Source Yorkshire and North East GLH was added to SAR1B.
Adult onset neurodegenerative disorder v1.67 SACS Louise Daugherty Source Yorkshire and North East GLH was added to SACS.
Adult onset neurodegenerative disorder v1.67 RTN2 Louise Daugherty Source Yorkshire and North East GLH was added to RTN2.
Adult onset neurodegenerative disorder v1.67 RNF216 Louise Daugherty Source Yorkshire and North East GLH was added to RNF216.
Adult onset neurodegenerative disorder v1.67 RNF170 Louise Daugherty Source Yorkshire and North East GLH was added to RNF170.
Adult onset neurodegenerative disorder v1.67 REEP2 Louise Daugherty Source Yorkshire and North East GLH was added to REEP2.
Adult onset neurodegenerative disorder v1.67 REEP1 Louise Daugherty Source Yorkshire and North East GLH was added to REEP1.
Adult onset neurodegenerative disorder v1.67 RARS2 Louise Daugherty Source Yorkshire and North East GLH was added to RARS2.
Adult onset neurodegenerative disorder v1.67 RAB39B Louise Daugherty Source Yorkshire and North East GLH was added to RAB39B.
Adult onset neurodegenerative disorder v1.67 PSEN2 Louise Daugherty Source Yorkshire and North East GLH was added to PSEN2.
Adult onset neurodegenerative disorder v1.67 PSEN1 Louise Daugherty Source Yorkshire and North East GLH was added to PSEN1.
Adult onset neurodegenerative disorder v1.67 PRRT2 Louise Daugherty Source Yorkshire and North East GLH was added to PRRT2.
Adult onset neurodegenerative disorder v1.67 PRNP Louise Daugherty Source Yorkshire and North East GLH was added to PRNP.
Adult onset neurodegenerative disorder v1.67 PRKRA Louise Daugherty Source Yorkshire and North East GLH was added to PRKRA.
Adult onset neurodegenerative disorder v1.67 PRKN Louise Daugherty Source Yorkshire and North East GLH was added to PRKN.
Adult onset neurodegenerative disorder v1.67 PRKCG Louise Daugherty Source Yorkshire and North East GLH was added to PRKCG.
Adult onset neurodegenerative disorder v1.67 PPP2R2B Louise Daugherty Source Yorkshire and North East GLH was added to PPP2R2B.
Adult onset neurodegenerative disorder v1.67 POLR3A Louise Daugherty Source Yorkshire and North East GLH was added to POLR3A.
Adult onset neurodegenerative disorder v1.67 POLG Louise Daugherty Source Yorkshire and North East GLH was added to POLG.
Adult onset neurodegenerative disorder v1.67 PNPLA6 Louise Daugherty Source Yorkshire and North East GLH was added to PNPLA6.
Adult onset neurodegenerative disorder v1.67 PNKP Louise Daugherty Source Yorkshire and North East GLH was added to PNKP.
Adult onset neurodegenerative disorder v1.67 PNKD Louise Daugherty Source Yorkshire and North East GLH was added to PNKD.
Adult onset neurodegenerative disorder v1.67 PMPCA Louise Daugherty Source Yorkshire and North East GLH was added to PMPCA.
Adult onset neurodegenerative disorder v1.67 PLP1 Louise Daugherty Source Yorkshire and North East GLH was added to PLP1.
Adult onset neurodegenerative disorder v1.67 PLA2G6 Louise Daugherty Source Yorkshire and North East GLH was added to PLA2G6.
Adult onset neurodegenerative disorder v1.67 PINK1 Louise Daugherty Source Yorkshire and North East GLH was added to PINK1.
Adult onset neurodegenerative disorder v1.67 PFN1 Louise Daugherty Source Yorkshire and North East GLH was added to PFN1.
Adult onset neurodegenerative disorder v1.67 PEX16 Louise Daugherty Source Yorkshire and North East GLH was added to PEX16.
Adult onset neurodegenerative disorder v1.67 PDYN Louise Daugherty Source Yorkshire and North East GLH was added to PDYN.
Adult onset neurodegenerative disorder v1.67 PDGFRB Louise Daugherty Source Yorkshire and North East GLH was added to PDGFRB.
Adult onset neurodegenerative disorder v1.67 PDGFB Louise Daugherty Source Yorkshire and North East GLH was added to PDGFB.
Adult onset neurodegenerative disorder v1.67 PAX6 Louise Daugherty Source Yorkshire and North East GLH was added to PAX6.
Adult onset neurodegenerative disorder v1.67 PARK7 Louise Daugherty Source Yorkshire and North East GLH was added to PARK7.
Adult onset neurodegenerative disorder v1.67 PANK2 Louise Daugherty Source Yorkshire and North East GLH was added to PANK2.
Adult onset neurodegenerative disorder v1.67 OPTN Louise Daugherty Source Yorkshire and North East GLH was added to OPTN.
Adult onset neurodegenerative disorder v1.67 OPHN1 Louise Daugherty Source Yorkshire and North East GLH was added to OPHN1.
Adult onset neurodegenerative disorder v1.67 OPA3 Louise Daugherty Source Yorkshire and North East GLH was added to OPA3.
Adult onset neurodegenerative disorder v1.67 NT5C2 Louise Daugherty Source Yorkshire and North East GLH was added to NT5C2.
Adult onset neurodegenerative disorder v1.67 NR4A2 Louise Daugherty Source Yorkshire and North East GLH was added to NR4A2.
Adult onset neurodegenerative disorder v1.67 NPC2 Louise Daugherty Source Yorkshire and North East GLH was added to NPC2.
Adult onset neurodegenerative disorder v1.67 NPC1 Louise Daugherty Source Yorkshire and North East GLH was added to NPC1.
Adult onset neurodegenerative disorder v1.67 NOTCH3 Louise Daugherty Source Yorkshire and North East GLH was added to NOTCH3.
Adult onset neurodegenerative disorder v1.67 NOP56 Louise Daugherty Source Yorkshire and North East GLH was added to NOP56.
Adult onset neurodegenerative disorder v1.67 NKX6-2 Louise Daugherty Source Yorkshire and North East GLH was added to NKX6-2.
Adult onset neurodegenerative disorder v1.67 NKX2-1 Louise Daugherty Source Yorkshire and North East GLH was added to NKX2-1.
Adult onset neurodegenerative disorder v1.67 NIPA1 Louise Daugherty Source Yorkshire and North East GLH was added to NIPA1.
Adult onset neurodegenerative disorder v1.67 NHLRC1 Louise Daugherty Source Yorkshire and North East GLH was added to NHLRC1.
Adult onset neurodegenerative disorder v1.67 NEFH Louise Daugherty Source Yorkshire and North East GLH was added to NEFH.
Adult onset neurodegenerative disorder v1.67 NDUFA12 Louise Daugherty Source Yorkshire and North East GLH was added to NDUFA12.
Adult onset neurodegenerative disorder v1.67 NAGLU Louise Daugherty Source Yorkshire and North East GLH was added to NAGLU.
Adult onset neurodegenerative disorder v1.67 MVK Louise Daugherty Source Yorkshire and North East GLH was added to MVK.
Adult onset neurodegenerative disorder v1.67 MTTP Louise Daugherty Source Yorkshire and North East GLH was added to MTTP.
Adult onset neurodegenerative disorder v1.67 MTPAP Louise Daugherty Source Yorkshire and North East GLH was added to MTPAP.
Adult onset neurodegenerative disorder v1.67 MT-ND6 Louise Daugherty Source Yorkshire and North East GLH was added to MT-ND6.
Adult onset neurodegenerative disorder v1.67 MT-ATP6 Louise Daugherty Source Yorkshire and North East GLH was added to MT-ATP6.
Adult onset neurodegenerative disorder v1.67 MRE11 Louise Daugherty Source Yorkshire and North East GLH was added to MRE11.
Adult onset neurodegenerative disorder v1.67 MR1 Louise Daugherty Source Yorkshire and North East GLH was added to MR1.
Adult onset neurodegenerative disorder v1.67 MPV17 Louise Daugherty Source Yorkshire and North East GLH was added to MPV17.
Adult onset neurodegenerative disorder v1.67 MMADHC Louise Daugherty Source Yorkshire and North East GLH was added to MMADHC.
Adult onset neurodegenerative disorder v1.67 MMACHC Louise Daugherty Source Yorkshire and North East GLH was added to MMACHC.
Adult onset neurodegenerative disorder v1.67 MECR Louise Daugherty Source Yorkshire and North East GLH was added to MECR.
Adult onset neurodegenerative disorder v1.67 MCOLN1 Louise Daugherty Source Yorkshire and North East GLH was added to MCOLN1.
Adult onset neurodegenerative disorder v1.67 MAT1A Louise Daugherty Source Yorkshire and North East GLH was added to MAT1A.
Adult onset neurodegenerative disorder v1.67 MARS2 Louise Daugherty Source Yorkshire and North East GLH was added to MARS2.
Adult onset neurodegenerative disorder v1.67 MARS Louise Daugherty Source Yorkshire and North East GLH was added to MARS.
Adult onset neurodegenerative disorder v1.67 MAPT Louise Daugherty Source Yorkshire and North East GLH was added to MAPT.
Adult onset neurodegenerative disorder v1.67 MAG Louise Daugherty Source Yorkshire and North East GLH was added to MAG.
Adult onset neurodegenerative disorder v1.67 LYST Louise Daugherty Source Yorkshire and North East GLH was added to LYST.
Adult onset neurodegenerative disorder v1.67 LRRK2 Louise Daugherty Source Yorkshire and North East GLH was added to LRRK2.
Adult onset neurodegenerative disorder v1.67 L2HGDH Louise Daugherty Source Yorkshire and North East GLH was added to L2HGDH.
Adult onset neurodegenerative disorder v1.67 L1CAM Louise Daugherty Source Yorkshire and North East GLH was added to L1CAM.
Adult onset neurodegenerative disorder v1.67 KMT2B Louise Daugherty Source Yorkshire and North East GLH was added to KMT2B.
Adult onset neurodegenerative disorder v1.67 KLC4 Louise Daugherty Source Yorkshire and North East GLH was added to KLC4.
Adult onset neurodegenerative disorder v1.67 KIF5A Louise Daugherty Source Yorkshire and North East GLH was added to KIF5A.
Adult onset neurodegenerative disorder v1.67 KIF1C Louise Daugherty Source Yorkshire and North East GLH was added to KIF1C.
Adult onset neurodegenerative disorder v1.67 KIF1A Louise Daugherty Source Yorkshire and North East GLH was added to KIF1A.
Adult onset neurodegenerative disorder v1.67 KIDINS220 Louise Daugherty Source Yorkshire and North East GLH was added to KIDINS220.
Adult onset neurodegenerative disorder v1.67 KIAA1161 Louise Daugherty Source Yorkshire and North East GLH was added to KIAA1161.
Adult onset neurodegenerative disorder v1.67 KDM5C Louise Daugherty Source Yorkshire and North East GLH was added to KDM5C.
Adult onset neurodegenerative disorder v1.67 KCNQ3 Louise Daugherty Source Yorkshire and North East GLH was added to KCNQ3.
Adult onset neurodegenerative disorder v1.67 KCNQ2 Louise Daugherty Source Yorkshire and North East GLH was added to KCNQ2.
Adult onset neurodegenerative disorder v1.67 KCNK18 Louise Daugherty Source Yorkshire and North East GLH was added to KCNK18.
Adult onset neurodegenerative disorder v1.67 KCNJ10 Louise Daugherty Source Yorkshire and North East GLH was added to KCNJ10.
Adult onset neurodegenerative disorder v1.67 KCND3 Louise Daugherty Source Yorkshire and North East GLH was added to KCND3.
Adult onset neurodegenerative disorder v1.67 KCNC3 Louise Daugherty Source Yorkshire and North East GLH was added to KCNC3.
Adult onset neurodegenerative disorder v1.67 KCNA1 Louise Daugherty Source Yorkshire and North East GLH was added to KCNA1.
Adult onset neurodegenerative disorder v1.67 JPH3 Louise Daugherty Source Yorkshire and North East GLH was added to JPH3.
Adult onset neurodegenerative disorder v1.67 ITPR1 Louise Daugherty Source Yorkshire and North East GLH was added to ITPR1.
Adult onset neurodegenerative disorder v1.67 ITM2B Louise Daugherty Source Yorkshire and North East GLH was added to ITM2B.
Adult onset neurodegenerative disorder v1.67 IPPK Louise Daugherty Source Yorkshire and North East GLH was added to IPPK.
Adult onset neurodegenerative disorder v1.67 IBA57 Louise Daugherty Source Yorkshire and North East GLH was added to IBA57.
Adult onset neurodegenerative disorder v1.67 HTT Louise Daugherty Source Yorkshire and North East GLH was added to HTT.
Adult onset neurodegenerative disorder v1.67 HTRA2 Louise Daugherty Source Yorkshire and North East GLH was added to HTRA2.
Adult onset neurodegenerative disorder v1.67 HTRA1 Louise Daugherty Source Yorkshire and North East GLH was added to HTRA1.
Adult onset neurodegenerative disorder v1.67 HSPD1 Louise Daugherty Source Yorkshire and North East GLH was added to HSPD1.
Adult onset neurodegenerative disorder v1.67 HPRT1 Louise Daugherty Source Yorkshire and North East GLH was added to HPRT1.
Adult onset neurodegenerative disorder v1.67 HPCA Louise Daugherty Source Yorkshire and North East GLH was added to HPCA.
Adult onset neurodegenerative disorder v1.67 HNRNPA1 Louise Daugherty Source Yorkshire and North East GLH was added to HNRNPA1.
Adult onset neurodegenerative disorder v1.67 HFE Louise Daugherty Source Yorkshire and North East GLH was added to HFE.
Adult onset neurodegenerative disorder v1.67 HEXB Louise Daugherty Source Yorkshire and North East GLH was added to HEXB.
Adult onset neurodegenerative disorder v1.67 HEXA Louise Daugherty Source Yorkshire and North East GLH was added to HEXA.
Adult onset neurodegenerative disorder v1.67 HACE1 Louise Daugherty Source Yorkshire and North East GLH was added to HACE1.
Adult onset neurodegenerative disorder v1.67 GRN Louise Daugherty Source Yorkshire and North East GLH was added to GRN.
Adult onset neurodegenerative disorder v1.67 GRM1 Louise Daugherty Source Yorkshire and North East GLH was added to GRM1.
Adult onset neurodegenerative disorder v1.67 GRID2 Louise Daugherty Source Yorkshire and North East GLH was added to GRID2.
Adult onset neurodegenerative disorder v1.67 GPAA1 Louise Daugherty Source Yorkshire and North East GLH was added to GPAA1.
Adult onset neurodegenerative disorder v1.67 GOSR2 Louise Daugherty Source Yorkshire and North East GLH was added to GOSR2.
Adult onset neurodegenerative disorder v1.67 GNAO1 Louise Daugherty Source Yorkshire and North East GLH was added to GNAO1.
Adult onset neurodegenerative disorder v1.67 GNAL Louise Daugherty Source Yorkshire and North East GLH was added to GNAL.
Adult onset neurodegenerative disorder v1.67 GLRB Louise Daugherty Source Yorkshire and North East GLH was added to GLRB.
Adult onset neurodegenerative disorder v1.67 GLRA1 Louise Daugherty Source Yorkshire and North East GLH was added to GLRA1.
Adult onset neurodegenerative disorder v1.67 GJC2 Louise Daugherty Source Yorkshire and North East GLH was added to GJC2.
Adult onset neurodegenerative disorder v1.67 GIGYF2 Louise Daugherty Source Yorkshire and North East GLH was added to GIGYF2.
Adult onset neurodegenerative disorder v1.67 GFAP Louise Daugherty Source Yorkshire and North East GLH was added to GFAP.
Adult onset neurodegenerative disorder v1.67 GCH1 Louise Daugherty Source Yorkshire and North East GLH was added to GCH1.
Adult onset neurodegenerative disorder v1.67 GCDH Louise Daugherty Source Yorkshire and North East GLH was added to GCDH.
Adult onset neurodegenerative disorder v1.67 GBA2 Louise Daugherty Source Yorkshire and North East GLH was added to GBA2.
Adult onset neurodegenerative disorder v1.67 GBA Louise Daugherty Source Yorkshire and North East GLH was added to GBA.
Adult onset neurodegenerative disorder v1.67 GAMT Louise Daugherty Source Yorkshire and North East GLH was added to GAMT.
Adult onset neurodegenerative disorder v1.67 GAD1 Louise Daugherty Source Yorkshire and North East GLH was added to GAD1.
Adult onset neurodegenerative disorder v1.67 FXN Louise Daugherty Source Yorkshire and North East GLH was added to FXN.
Adult onset neurodegenerative disorder v1.67 FUS Louise Daugherty Source Yorkshire and North East GLH was added to FUS.
Adult onset neurodegenerative disorder v1.67 FTL Louise Daugherty Source Yorkshire and North East GLH was added to FTL.
Adult onset neurodegenerative disorder v1.67 FOXRED1 Louise Daugherty Source Yorkshire and North East GLH was added to FOXRED1.
Adult onset neurodegenerative disorder v1.67 FOXG1 Louise Daugherty Source Yorkshire and North East GLH was added to FOXG1.
Adult onset neurodegenerative disorder v1.67 FOLR1 Louise Daugherty Source Yorkshire and North East GLH was added to FOLR1.
Adult onset neurodegenerative disorder v1.67 FMR1 Louise Daugherty Source Yorkshire and North East GLH was added to FMR1.
Adult onset neurodegenerative disorder v1.67 FLVCR1 Louise Daugherty Source Yorkshire and North East GLH was added to FLVCR1.
Adult onset neurodegenerative disorder v1.67 FIG4 Louise Daugherty Source Yorkshire and North East GLH was added to FIG4.
Adult onset neurodegenerative disorder v1.67 FGF14 Louise Daugherty Source Yorkshire and North East GLH was added to FGF14.
Adult onset neurodegenerative disorder v1.67 FBXO7 Louise Daugherty Source Yorkshire and North East GLH was added to FBXO7.
Adult onset neurodegenerative disorder v1.67 FASTKD2 Louise Daugherty Source Yorkshire and North East GLH was added to FASTKD2.
Adult onset neurodegenerative disorder v1.67 FARS2 Louise Daugherty Source Yorkshire and North East GLH was added to FARS2.
Adult onset neurodegenerative disorder v1.67 FA2H Louise Daugherty Source Yorkshire and North East GLH was added to FA2H.
Adult onset neurodegenerative disorder v1.67 EXOSC3 Louise Daugherty Source Yorkshire and North East GLH was added to EXOSC3.
Adult onset neurodegenerative disorder v1.67 ERLIN2 Louise Daugherty Source Yorkshire and North East GLH was added to ERLIN2.
Adult onset neurodegenerative disorder v1.67 ERLIN1 Louise Daugherty Source Yorkshire and North East GLH was added to ERLIN1.
Adult onset neurodegenerative disorder v1.67 ERCC6 Louise Daugherty Source Yorkshire and North East GLH was added to ERCC6.
Adult onset neurodegenerative disorder v1.67 ERBB4 Louise Daugherty Source Yorkshire and North East GLH was added to ERBB4.
Adult onset neurodegenerative disorder v1.67 EPM2A Louise Daugherty Source Yorkshire and North East GLH was added to EPM2A.
Adult onset neurodegenerative disorder v1.67 ENTPD1 Louise Daugherty Source Yorkshire and North East GLH was added to ENTPD1.
Adult onset neurodegenerative disorder v1.67 ELOVL5 Louise Daugherty Source Yorkshire and North East GLH was added to ELOVL5.
Adult onset neurodegenerative disorder v1.67 ELOVL4 Louise Daugherty Source Yorkshire and North East GLH was added to ELOVL4.
Adult onset neurodegenerative disorder v1.67 EIF4G1 Louise Daugherty Source Yorkshire and North East GLH was added to EIF4G1.
Adult onset neurodegenerative disorder v1.67 EIF2B5 Louise Daugherty Source Yorkshire and North East GLH was added to EIF2B5.
Adult onset neurodegenerative disorder v1.67 EIF2B4 Louise Daugherty Source Yorkshire and North East GLH was added to EIF2B4.
Adult onset neurodegenerative disorder v1.67 EIF2B3 Louise Daugherty Source Yorkshire and North East GLH was added to EIF2B3.
Adult onset neurodegenerative disorder v1.67 EIF2B2 Louise Daugherty Source Yorkshire and North East GLH was added to EIF2B2.
Adult onset neurodegenerative disorder v1.67 EIF2B1 Louise Daugherty Source Yorkshire and North East GLH was added to EIF2B1.
Adult onset neurodegenerative disorder v1.67 EARS2 Louise Daugherty Source Yorkshire and North East GLH was added to EARS2.
Adult onset neurodegenerative disorder v1.67 DYNC1H1 Louise Daugherty Source Yorkshire and North East GLH was added to DYNC1H1.
Adult onset neurodegenerative disorder v1.67 DSTYK Louise Daugherty Source Yorkshire and North East GLH was added to DSTYK.
Adult onset neurodegenerative disorder v1.67 DRD5 Louise Daugherty Source Yorkshire and North East GLH was added to DRD5.
Adult onset neurodegenerative disorder v1.67 DRD2 Louise Daugherty Source Yorkshire and North East GLH was added to DRD2.
Adult onset neurodegenerative disorder v1.67 DNMT1 Louise Daugherty Source Yorkshire and North East GLH was added to DNMT1.
Adult onset neurodegenerative disorder v1.67 DNAJC6 Louise Daugherty Source Yorkshire and North East GLH was added to DNAJC6.
Adult onset neurodegenerative disorder v1.67 DNAJC5 Louise Daugherty Source Yorkshire and North East GLH was added to DNAJC5.
Adult onset neurodegenerative disorder v1.67 DNAJC19 Louise Daugherty Source Yorkshire and North East GLH was added to DNAJC19.
Adult onset neurodegenerative disorder v1.67 DMXL2 Louise Daugherty Source Yorkshire and North East GLH was added to DMXL2.
Adult onset neurodegenerative disorder v1.67 DLAT Louise Daugherty Source Yorkshire and North East GLH was added to DLAT.
Adult onset neurodegenerative disorder v1.67 DDHD2 Louise Daugherty Source Yorkshire and North East GLH was added to DDHD2.
Adult onset neurodegenerative disorder v1.67 DDHD1 Louise Daugherty Source Yorkshire and North East GLH was added to DDHD1.
Adult onset neurodegenerative disorder v1.67 DDC Louise Daugherty Source Yorkshire and North East GLH was added to DDC.
Adult onset neurodegenerative disorder v1.67 DCTN1 Louise Daugherty Source Yorkshire and North East GLH was added to DCTN1.
Adult onset neurodegenerative disorder v1.67 DCAF17 Louise Daugherty Source Yorkshire and North East GLH was added to DCAF17.
Adult onset neurodegenerative disorder v1.67 DARS2 Louise Daugherty Source Yorkshire and North East GLH was added to DARS2.
Adult onset neurodegenerative disorder v1.67 DARS Louise Daugherty Source Yorkshire and North East GLH was added to DARS.
Adult onset neurodegenerative disorder v1.67 DAB1 Louise Daugherty Source Yorkshire and North East GLH was added to DAB1.
Adult onset neurodegenerative disorder v1.67 CYP7B1 Louise Daugherty Source Yorkshire and North East GLH was added to CYP7B1.
Adult onset neurodegenerative disorder v1.67 CYP2U1 Louise Daugherty Source Yorkshire and North East GLH was added to CYP2U1.
Adult onset neurodegenerative disorder v1.67 CYP27A1 Louise Daugherty Source Yorkshire and North East GLH was added to CYP27A1.
Adult onset neurodegenerative disorder v1.67 CWF19L1 Louise Daugherty Source Yorkshire and North East GLH was added to CWF19L1.
Adult onset neurodegenerative disorder v1.67 CSTB Louise Daugherty Source Yorkshire and North East GLH was added to CSTB.
Adult onset neurodegenerative disorder v1.67 CSF1R Louise Daugherty Source Yorkshire and North East GLH was added to CSF1R.
Adult onset neurodegenerative disorder v1.67 CP Louise Daugherty Source Yorkshire and North East GLH was added to CP.
Adult onset neurodegenerative disorder v1.67 COX20 Louise Daugherty Source Yorkshire and North East GLH was added to COX20.
Adult onset neurodegenerative disorder v1.67 COQ8A Louise Daugherty Source Yorkshire and North East GLH was added to COQ8A.
Adult onset neurodegenerative disorder v1.67 COG5 Louise Daugherty Source Yorkshire and North East GLH was added to COG5.
Adult onset neurodegenerative disorder v1.67 COASY Louise Daugherty Source Yorkshire and North East GLH was added to COASY.
Adult onset neurodegenerative disorder v1.67 CLP1 Louise Daugherty Source Yorkshire and North East GLH was added to CLP1.
Adult onset neurodegenerative disorder v1.67 CLN6 Louise Daugherty Source Yorkshire and North East GLH was added to CLN6.
Adult onset neurodegenerative disorder v1.67 CLCN2 Louise Daugherty Source Yorkshire and North East GLH was added to CLCN2.
Adult onset neurodegenerative disorder v1.67 CIZ1 Louise Daugherty Source Yorkshire and North East GLH was added to CIZ1.
Adult onset neurodegenerative disorder v1.67 CHMP2B Louise Daugherty Source Yorkshire and North East GLH was added to CHMP2B.
Adult onset neurodegenerative disorder v1.67 CHMP1A Louise Daugherty Source Yorkshire and North East GLH was added to CHMP1A.
Adult onset neurodegenerative disorder v1.67 CHCHD2 Louise Daugherty Source Yorkshire and North East GLH was added to CHCHD2.
Adult onset neurodegenerative disorder v1.67 CHCHD10 Louise Daugherty Source Yorkshire and North East GLH was added to CHCHD10.
Adult onset neurodegenerative disorder v1.67 CDK16 Louise Daugherty Source Yorkshire and North East GLH was added to CDK16.
Adult onset neurodegenerative disorder v1.67 CCT5 Louise Daugherty Source Yorkshire and North East GLH was added to CCT5.
Adult onset neurodegenerative disorder v1.67 CCNF Louise Daugherty Source Yorkshire and North East GLH was added to CCNF.
Adult onset neurodegenerative disorder v1.67 CCDC88C Louise Daugherty Source Yorkshire and North East GLH was added to CCDC88C.
Adult onset neurodegenerative disorder v1.67 CASK Louise Daugherty Source Yorkshire and North East GLH was added to CASK.
Adult onset neurodegenerative disorder v1.67 CAPN1 Louise Daugherty Source Yorkshire and North East GLH was added to CAPN1.
Adult onset neurodegenerative disorder v1.67 CAMTA1 Louise Daugherty Source Yorkshire and North East GLH was added to CAMTA1.
Adult onset neurodegenerative disorder v1.67 CACNB4 Louise Daugherty Source Yorkshire and North East GLH was added to CACNB4.
Adult onset neurodegenerative disorder v1.67 CACNA1G Louise Daugherty Source Yorkshire and North East GLH was added to CACNA1G.
Adult onset neurodegenerative disorder v1.67 CACNA1A Louise Daugherty Source Yorkshire and North East GLH was added to CACNA1A.
Adult onset neurodegenerative disorder v1.67 CA8 Louise Daugherty Source Yorkshire and North East GLH was added to CA8.
Adult onset neurodegenerative disorder v1.67 C9orf72 Louise Daugherty Source Yorkshire and North East GLH was added to C9orf72.
Adult onset neurodegenerative disorder v1.67 C19orf12 Louise Daugherty Source Yorkshire and North East GLH was added to C19orf12.
Adult onset neurodegenerative disorder v1.67 C12orf65 Louise Daugherty Source Yorkshire and North East GLH was added to C12orf65.
Adult onset neurodegenerative disorder v1.67 BSCL2 Louise Daugherty Source Yorkshire and North East GLH was added to BSCL2.
Adult onset neurodegenerative disorder v1.67 BEAN1 Louise Daugherty Source Yorkshire and North East GLH was added to BEAN1.
Adult onset neurodegenerative disorder v1.67 BCAP31 Louise Daugherty Source Yorkshire and North East GLH was added to BCAP31.
Adult onset neurodegenerative disorder v1.67 B4GALNT1 Louise Daugherty Source Yorkshire and North East GLH was added to B4GALNT1.
Adult onset neurodegenerative disorder v1.67 AUH Louise Daugherty Source Yorkshire and North East GLH was added to AUH.
Adult onset neurodegenerative disorder v1.67 ATXN8 Louise Daugherty Source Yorkshire and North East GLH was added to ATXN8.
Adult onset neurodegenerative disorder v1.67 ATXN7 Louise Daugherty Source Yorkshire and North East GLH was added to ATXN7.
Adult onset neurodegenerative disorder v1.67 ATXN3 Louise Daugherty Source Yorkshire and North East GLH was added to ATXN3.
Adult onset neurodegenerative disorder v1.67 ATXN2 Louise Daugherty Source Yorkshire and North East GLH was added to ATXN2.
Adult onset neurodegenerative disorder v1.67 ATXN10 Louise Daugherty Source Yorkshire and North East GLH was added to ATXN10.
Adult onset neurodegenerative disorder v1.67 ATXN1 Louise Daugherty Source Yorkshire and North East GLH was added to ATXN1.
Adult onset neurodegenerative disorder v1.67 ATP8A2 Louise Daugherty Source Yorkshire and North East GLH was added to ATP8A2.
Adult onset neurodegenerative disorder v1.67 ATP7B Louise Daugherty Source Yorkshire and North East GLH was added to ATP7B.
Adult onset neurodegenerative disorder v1.67 ATP6AP2 Louise Daugherty Source Yorkshire and North East GLH was added to ATP6AP2.
Adult onset neurodegenerative disorder v1.67 ATP2B3 Louise Daugherty Source Yorkshire and North East GLH was added to ATP2B3.
Adult onset neurodegenerative disorder v1.67 ATP1A3 Louise Daugherty Source Yorkshire and North East GLH was added to ATP1A3.
Adult onset neurodegenerative disorder v1.67 ATP1A2 Louise Daugherty Source Yorkshire and North East GLH was added to ATP1A2.
Adult onset neurodegenerative disorder v1.67 ATP13A2 Louise Daugherty Source Yorkshire and North East GLH was added to ATP13A2.
Adult onset neurodegenerative disorder v1.67 ATN1 Louise Daugherty Source Yorkshire and North East GLH was added to ATN1.
Adult onset neurodegenerative disorder v1.67 ATM Louise Daugherty Source Yorkshire and North East GLH was added to ATM.
Adult onset neurodegenerative disorder v1.67 ATL1 Louise Daugherty Source Yorkshire and North East GLH was added to ATL1.
Adult onset neurodegenerative disorder v1.67 ATCAY Louise Daugherty Source Yorkshire and North East GLH was added to ATCAY.
Adult onset neurodegenerative disorder v1.67 ARX Louise Daugherty Source Yorkshire and North East GLH was added to ARX.
Adult onset neurodegenerative disorder v1.67 ARSI Louise Daugherty Source Yorkshire and North East GLH was added to ARSI.
Adult onset neurodegenerative disorder v1.67 ARSA Louise Daugherty Source Yorkshire and North East GLH was added to ARSA.
Adult onset neurodegenerative disorder v1.67 ARL6IP1 Louise Daugherty Source Yorkshire and North East GLH was added to ARL6IP1.
Adult onset neurodegenerative disorder v1.67 ARG1 Louise Daugherty Source Yorkshire and North East GLH was added to ARG1.
Adult onset neurodegenerative disorder v1.67 AR Louise Daugherty Source Yorkshire and North East GLH was added to AR.
Adult onset neurodegenerative disorder v1.67 APTX Louise Daugherty Source Yorkshire and North East GLH was added to APTX.
Adult onset neurodegenerative disorder v1.67 APP Louise Daugherty Source Yorkshire and North East GLH was added to APP.
Adult onset neurodegenerative disorder v1.67 AP5Z1 Louise Daugherty Source Yorkshire and North East GLH was added to AP5Z1.
Adult onset neurodegenerative disorder v1.67 AP4S1 Louise Daugherty Source Yorkshire and North East GLH was added to AP4S1.
Adult onset neurodegenerative disorder v1.67 AP4M1 Louise Daugherty Source Yorkshire and North East GLH was added to AP4M1.
Adult onset neurodegenerative disorder v1.67 AP4E1 Louise Daugherty Source Yorkshire and North East GLH was added to AP4E1.
Adult onset neurodegenerative disorder v1.67 AP4B1 Louise Daugherty Source Yorkshire and North East GLH was added to AP4B1.
Adult onset neurodegenerative disorder v1.67 AP1S2 Louise Daugherty Source Yorkshire and North East GLH was added to AP1S2.
Adult onset neurodegenerative disorder v1.67 ANO3 Louise Daugherty Source Yorkshire and North East GLH was added to ANO3.
Adult onset neurodegenerative disorder v1.67 ANO10 Louise Daugherty Source Yorkshire and North East GLH was added to ANO10.
Adult onset neurodegenerative disorder v1.67 ANG Louise Daugherty Source Yorkshire and North East GLH was added to ANG.
Adult onset neurodegenerative disorder v1.67 AMPD2 Louise Daugherty Source Yorkshire and North East GLH was added to AMPD2.
Adult onset neurodegenerative disorder v1.67 ALS2 Louise Daugherty Source Yorkshire and North East GLH was added to ALS2.
Adult onset neurodegenerative disorder v1.67 ALDH18A1 Louise Daugherty Source Yorkshire and North East GLH was added to ALDH18A1.
Adult onset neurodegenerative disorder v1.67 ALAS2 Louise Daugherty Source Yorkshire and North East GLH was added to ALAS2.
Adult onset neurodegenerative disorder v1.67 AIMP1 Louise Daugherty Source Yorkshire and North East GLH was added to AIMP1.
Adult onset neurodegenerative disorder v1.67 AFG3L2 Louise Daugherty Source Yorkshire and North East GLH was added to AFG3L2.
Adult onset neurodegenerative disorder v1.67 ADCY5 Louise Daugherty Source Yorkshire and North East GLH was added to ADCY5.
Adult onset neurodegenerative disorder v1.67 ADAR Louise Daugherty Source Yorkshire and North East GLH was added to ADAR.
Adult onset neurodegenerative disorder v1.67 ACTB Louise Daugherty Source Yorkshire and North East GLH was added to ACTB.
Adult onset neurodegenerative disorder v1.67 ABHD12 Louise Daugherty Source Yorkshire and North East GLH was added to ABHD12.
Adult onset neurodegenerative disorder v1.67 ABCD1 Louise Daugherty Source Yorkshire and North East GLH was added to ABCD1.
Adult onset neurodegenerative disorder v1.67 ABCB7 Louise Daugherty Source Yorkshire and North East GLH was added to ABCB7.
Adult onset neurodegenerative disorder v1.67 AARS Louise Daugherty Source Yorkshire and North East GLH was added to AARS.
Adult onset neurodegenerative disorder v1.67 AAAS Louise Daugherty Source Yorkshire and North East GLH was added to AAAS.
Intellectual disability v2.970 CYP27A1 Catherine Snow Publications for gene: CYP27A1 were set to 24442603; 29484516
Intellectual disability v2.970 CYP27A1 Catherine Snow Publications for gene: CYP27A1 were set to
Intellectual disability v2.969 GRIA2 Catherine Snow changed review comment from: GRIA2 has been associated with ID in PMID: 31300657. The authors identified 28 unrelated individuals who had heterozygous de novo GRIA2 mutations. All individuals had experienced DD and moderate to severe ID, except 2 who had died at a young age. Epilepsy was identified in at least 10 individuals.
Multiple de-novo intragenic variants including missense (n = 15), splice-site (n = 2), in-frame deletion (n = 1), stop-gain (n = 1) and frameshift (n = 2) variants were reported. In all patients with intragenic variants they were first identified by WES, WGS or massively parallel targeted sequencing and confirmed as de-novo by trio Sanger sequencing. Also a further three patients were identified with a microdeletion involving GRIA2 using micro array analysis.

GRIA2 is currently not associated with a disease in OMIM or Gene2Phenotype and this is the first time that GRIA2 has been reported to be associated with ID but other AMPA receptors, GRIA3, and GRIA4 are Green on the ID panel.
Therefore there is not sufficient number of unrelated individuals and evidence to make GRIA2 Green.; to: GRIA2 has been associated with ID in PMID: 31300657. The authors identified 28 unrelated individuals who had heterozygous de novo GRIA2 mutations. All individuals had experienced DD and moderate to severe ID, except 2 who had died at a young age. Epilepsy was identified in at least 10 individuals.
Multiple de-novo intragenic variants including missense (n = 15), splice-site (n = 2), in-frame deletion (n = 1), stop-gain (n = 1) and frameshift (n = 2) variants were reported. In all patients with intragenic variants they were first identified by WES, WGS or massively parallel targeted sequencing and confirmed as de-novo by trio Sanger sequencing. Also a further three patients were identified with a microdeletion involving GRIA2 using micro array analysis.

GRIA2 is currently not associated with a disease in OMIM or Gene2Phenotype and this is the first time that GRIA2 has been reported to be associated with ID but other AMPA receptors, GRIA3, and GRIA4 are Green on the ID panel.
Therefore there is now sufficient number of unrelated individuals and evidence to make GRIA2 Green.
Intellectual disability v2.969 GRIA2 Catherine Snow Classified gene: GRIA2 as Green List (high evidence)
Intellectual disability v2.969 GRIA2 Catherine Snow Gene: gria2 has been classified as Green List (High Evidence).
Intellectual disability v2.968 GRIA2 Catherine Snow reviewed gene: GRIA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare multisystem ciliopathy Super panel v0.1 Ellen McDonagh Changed child panels to: Skeletal ciliopathies; Ophthalmological ciliopathies; Renal ciliopathies; Neurological ciliopathies
Intellectual disability v2.968 GRIA2 Catherine Snow Publications for gene: GRIA2 were set to 28725178; 26350204; 24896178; 22669415; 28630856
Adult onset neurodegenerative disorder v1.66 VPS13C Louise Daugherty Source NHS GMS was added to VPS13C.
Adult onset neurodegenerative disorder v1.66 DNAJC13 Louise Daugherty Source NHS GMS was added to DNAJC13.
Adult onset neurodegenerative disorder v1.66 COQ2 Louise Daugherty Source NHS GMS was added to COQ2.
Adult onset neurodegenerative disorder v1.66 TUBA4A Louise Daugherty Source NHS GMS was added to TUBA4A.
Adult onset neurodegenerative disorder v1.66 TAF15 Louise Daugherty Source NHS GMS was added to TAF15.
Adult onset neurodegenerative disorder v1.66 PRPH Louise Daugherty Source NHS GMS was added to PRPH.
Adult onset neurodegenerative disorder v1.66 NEK1 Louise Daugherty Source NHS GMS was added to NEK1.
Adult onset neurodegenerative disorder v1.66 MATR3 Louise Daugherty Source NHS GMS was added to MATR3.
Adult onset neurodegenerative disorder v1.66 HNRNPA2B1 Louise Daugherty Source NHS GMS was added to HNRNPA2B1.
Adult onset neurodegenerative disorder v1.66 EWSR1 Louise Daugherty Source NHS GMS was added to EWSR1.
Adult onset neurodegenerative disorder v1.66 DAO Louise Daugherty Source NHS GMS was added to DAO.
Adult onset neurodegenerative disorder v1.66 ARHGEF28 Louise Daugherty Source NHS GMS was added to ARHGEF28.
Adult onset neurodegenerative disorder v1.66 ANXA11 Louise Daugherty Source NHS GMS was added to ANXA11.
Adult onset neurodegenerative disorder v1.66 SS18L1 Louise Daugherty Source NHS GMS was added to SS18L1.
Adult onset neurodegenerative disorder v1.65 VPS13C Louise Daugherty Source Yorkshire and North East GLH was added to VPS13C.
Adult onset neurodegenerative disorder v1.65 DNAJC13 Louise Daugherty Source Yorkshire and North East GLH was added to DNAJC13.
Adult onset neurodegenerative disorder v1.65 COQ2 Louise Daugherty Source Yorkshire and North East GLH was added to COQ2.
Adult onset neurodegenerative disorder v1.65 TUBA4A Louise Daugherty Source Yorkshire and North East GLH was added to TUBA4A.
Adult onset neurodegenerative disorder v1.65 TAF15 Louise Daugherty Source Yorkshire and North East GLH was added to TAF15.
Adult onset neurodegenerative disorder v1.65 PRPH Louise Daugherty Source Yorkshire and North East GLH was added to PRPH.
Adult onset neurodegenerative disorder v1.65 NEK1 Louise Daugherty Source Yorkshire and North East GLH was added to NEK1.
Adult onset neurodegenerative disorder v1.65 MATR3 Louise Daugherty Source Yorkshire and North East GLH was added to MATR3.
Adult onset neurodegenerative disorder v1.65 HNRNPA2B1 Louise Daugherty Source Yorkshire and North East GLH was added to HNRNPA2B1.
Adult onset neurodegenerative disorder v1.65 EWSR1 Louise Daugherty Source Yorkshire and North East GLH was added to EWSR1.
Adult onset neurodegenerative disorder v1.65 DAO Louise Daugherty Source Yorkshire and North East GLH was added to DAO.
Adult onset neurodegenerative disorder v1.65 ARHGEF28 Louise Daugherty Source Yorkshire and North East GLH was added to ARHGEF28.
Adult onset neurodegenerative disorder v1.65 ANXA11 Louise Daugherty Source Yorkshire and North East GLH was added to ANXA11.
Adult onset neurodegenerative disorder v1.65 SS18L1 Louise Daugherty Source Yorkshire and North East GLH was added to SS18L1.
Adult onset neurodegenerative disorder v1.64 VPS13C Louise Daugherty gene: VPS13C was added
gene: VPS13C was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: VPS13C was set to
Adult onset neurodegenerative disorder v1.64 DNAJC13 Louise Daugherty gene: DNAJC13 was added
gene: DNAJC13 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: DNAJC13 was set to
Adult onset neurodegenerative disorder v1.64 COQ2 Louise Daugherty gene: COQ2 was added
gene: COQ2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: COQ2 was set to
Adult onset neurodegenerative disorder v1.64 TUBA4A Louise Daugherty gene: TUBA4A was added
gene: TUBA4A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: TUBA4A was set to
Adult onset neurodegenerative disorder v1.64 TAF15 Louise Daugherty gene: TAF15 was added
gene: TAF15 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TAF15 was set to
Adult onset neurodegenerative disorder v1.64 PRPH Louise Daugherty gene: PRPH was added
gene: PRPH was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: PRPH was set to
Adult onset neurodegenerative disorder v1.64 NEK1 Louise Daugherty gene: NEK1 was added
gene: NEK1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: NEK1 was set to
Adult onset neurodegenerative disorder v1.64 MATR3 Louise Daugherty gene: MATR3 was added
gene: MATR3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: MATR3 was set to
Adult onset neurodegenerative disorder v1.64 HNRNPA2B1 Louise Daugherty gene: HNRNPA2B1 was added
gene: HNRNPA2B1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: HNRNPA2B1 was set to
Adult onset neurodegenerative disorder v1.64 EWSR1 Louise Daugherty gene: EWSR1 was added
gene: EWSR1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: EWSR1 was set to
Adult onset neurodegenerative disorder v1.64 DAO Louise Daugherty gene: DAO was added
gene: DAO was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: DAO was set to
Adult onset neurodegenerative disorder v1.64 ARHGEF28 Louise Daugherty gene: ARHGEF28 was added
gene: ARHGEF28 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: ARHGEF28 was set to
Adult onset neurodegenerative disorder v1.64 ANXA11 Louise Daugherty gene: ANXA11 was added
gene: ANXA11 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ANXA11 was set to
Adult onset neurodegenerative disorder v1.64 SS18L1 Louise Daugherty gene: SS18L1 was added
gene: SS18L1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SS18L1 was set to
Intellectual disability v2.967 SHANK1 Chris Buxton commented on gene: SHANK1
Likely inborn error of metabolism v1.61 DHCR7 Sarah Leigh changed review comment from: Comment on list classification: Associated with phenotype in OMIM and as confirmed Gen2Phen gene. At least 21 variants reported.; to: Comment on list classification: Associated with phenotype in OMIM and as confirmed Gen2Phen gene. At least 21 variants reported.

Although single gene testing has been commissioned for DHCR7, it is well established as an inherited metabolic disorder and ought to be included in the overall panel in case it has not been biochemically excluded initially
Saikat Santra (Birmingham Children's Hospital), 21 Dec 2018
Likely inborn error of metabolism v1.61 DHCR7 Sarah Leigh Classified gene: DHCR7 as Green List (high evidence)
Likely inborn error of metabolism v1.61 DHCR7 Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and as confirmed Gen2Phen gene. At least 21 variants reported.
Likely inborn error of metabolism v1.61 DHCR7 Sarah Leigh Gene: dhcr7 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.120 DHCR7 Sarah Leigh Classified gene: DHCR7 as Green List (high evidence)
Undiagnosed metabolic disorders v1.120 DHCR7 Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and as confirmed Gen2Phen gene. At least 21 variants reported.
Undiagnosed metabolic disorders v1.120 DHCR7 Sarah Leigh Gene: dhcr7 has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.119 DHCR7 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.119 DHCR7 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.119 DHCR7 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.119 DHCR7 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.119 DHCR7 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.119 DHCR7 Sarah Leigh Deleted their comment
Undiagnosed metabolic disorders v1.119 DHCR7 Sarah Leigh Deleted their comment
Intellectual disability v2.967 DEGS1 Rebecca Foulger Phenotypes for gene: DEGS1 were changed from Leukodystrophy hypomyelinating 18, MIM 618404) to Leukodystrophy hypomyelinating 18, MIM 618404); developmental delay
Intellectual disability v2.966 DEGS1 Rebecca Foulger Classified gene: DEGS1 as Green List (high evidence)
Intellectual disability v2.966 DEGS1 Rebecca Foulger Added comment: Comment on list classification: DEGS1 was added to the panel and rated Green by Konstantinos Varvagiannis. Developmental delay and/or ID is a common phenotype (and initial presentation) of the Leukodystrophy. Sufficient cases from multiple papers (PMIDs:30620338,30620337,31186544) to support inclusion on the panel.
Intellectual disability v2.966 DEGS1 Rebecca Foulger Gene: degs1 has been classified as Green List (High Evidence).
Intellectual disability v2.965 DEGS1 Rebecca Foulger commented on gene: DEGS1: PMID:30620338: Karsai et al., 2019 identified a homozygous p.Ala280Val variant in DEGS1 in a Turkish patient of consanguineous parents. Both parents and healthy siblings were heterozygous carriers of the variant. Leading symptoms were early-onset developmental delay, movement disorder, progressive spasticity, and epilepsy.
Severe hypertriglyceridaemia v1.12 LMF1 Sarah Leigh Publications for gene: LMF1 were set to
Severe hypertriglyceridaemia v1.11 LMF1 Sarah Leigh Classified gene: LMF1 as Green List (high evidence)
Severe hypertriglyceridaemia v1.11 LMF1 Sarah Leigh Added comment: Comment on list classification: PMID 17994020 and 19820022, both report homozygous terminating variants in severe hypertriglyceridemia, together with functional studies that showed significant reduction of LPL activity. PMID 30885219: heterozygous LMF1 c.1024C > T (p.Arg342*; rs776584760) in a patient with Hypertriglyceridemia and acute pancreatitis (HTG-AP). PMID: 30420299 reports at least 2 likely pathogenic (terminating variants) heterozygous LMF1 variants from 13 variants in severe hypertriglyceridemia patients. PMID: 29910226 reports a compound heterozygous variants (c.257C>T, p.P86L & c.1184C>T,p.T395I) which segrates with hypertriglyceridemia in the family. However PMID: 22239554 reports that a number of missense variants don't have an effect.
Severe hypertriglyceridaemia v1.11 LMF1 Sarah Leigh Gene: lmf1 has been classified as Green List (High Evidence).
Intellectual disability v2.965 DEGS1 Rebecca Foulger commented on gene: DEGS1: PMID:31186544: Dolgin et al., 2019 describe four individuals from a consanguineous family. All four had mild to severe ID, spastic quadriplegia, scoliosis and epilepsy in most. WES identified a homozygous missense variant in DEGS1 (in isoforms N219S, N255S).
Intellectual disability v2.965 DEGS1 Rebecca Foulger commented on gene: DEGS1
Early onset or syndromic epilepsy v1.180 DEGS1 Rebecca Foulger Classified gene: DEGS1 as Green List (high evidence)
Early onset or syndromic epilepsy v1.180 DEGS1 Rebecca Foulger Added comment: Comment on list classification: DEGS1 was added to the panel and rated Green by Konstantinos Varvagiannis. Seizures are a common part of the Leukodystrophy phenotype, as reported in unrelated individuals from multiple papers (PMIDs 30620338,30620337,31186544). Therefore sufficient evidence to rate Green.
Early onset or syndromic epilepsy v1.180 DEGS1 Rebecca Foulger Gene: degs1 has been classified as Green List (High Evidence).
Early onset or syndromic epilepsy v1.179 DEGS1 Rebecca Foulger Phenotypes for gene: DEGS1 were changed from Leukodystrophy hypomyelinating 18, 618404 to Leukodystrophy hypomyelinating 18, 618404; seizures
Early onset or syndromic epilepsy v1.178 DEGS1 Rebecca Foulger changed review comment from: PMID:31186544: Dolgin et al., 2019 describe four individuals from a consanguineous family. All four had mild to severe ID, spastic quadriplegia, scoliosis and epilepsy in most. WES identified a homozygous missense variant in DEGS1 (in isoforms N219S, N255S); to: PMID:31186544: Dolgin et al., 2019 describe four individuals from a consanguineous family. All four had mild to severe ID, spastic quadriplegia, scoliosis and epilepsy in most. WES identified a homozygous missense variant in DEGS1 (in isoforms N219S, N255S).
Early onset or syndromic epilepsy v1.178 DEGS1 Rebecca Foulger commented on gene: DEGS1: PMID:31186544: Dolgin et al., 2019 describe four individuals from a consanguineous family. All four had mild to severe ID, spastic quadriplegia, scoliosis and epilepsy in most. WES identified a homozygous missense variant in DEGS1 (in isoforms N219S, N255S)
Early onset or syndromic epilepsy v1.178 DEGS1 Rebecca Foulger commented on gene: DEGS1: PMID:30620337: Pant et al., 2019 report DEGS1 variants as the cause of ypomyelinating leukodystrophy in 19 patients from 13 unrelated families. Of the 19 affected patients, seizures were frequently observed (80%) and include clonic tonic, status epilepticus and partial (plus one febrile case in family 12).
Early onset or syndromic epilepsy v1.178 DEGS1 Rebecca Foulger commented on gene: DEGS1
Mitochondrial disorders v1.412 YME1L1 Sarah Leigh reviewed gene: YME1L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 WFS1 Sarah Leigh reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 UQCR11 Sarah Leigh reviewed gene: UQCR11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 UQCR10 Sarah Leigh reviewed gene: UQCR10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 UQCC1 Sarah Leigh reviewed gene: UQCC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 TMEM65 Sarah Leigh reviewed gene: TMEM65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 TIMM22 Sarah Leigh reviewed gene: TIMM22: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 TFAM Sarah Leigh reviewed gene: TFAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 SSBP1 Sarah Leigh reviewed gene: SSBP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 SLC52A3 Sarah Leigh reviewed gene: SLC52A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 SLC52A2 Sarah Leigh reviewed gene: SLC52A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 SLC25A21 Sarah Leigh reviewed gene: SLC25A21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 SLC25A20 Sarah Leigh reviewed gene: SLC25A20: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 SLC22A5 Sarah Leigh reviewed gene: SLC22A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 SDHAF4 Sarah Leigh reviewed gene: SDHAF4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 SDHAF3 Sarah Leigh reviewed gene: SDHAF3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 PTCD3 Sarah Leigh reviewed gene: PTCD3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 PPOX Sarah Leigh reviewed gene: PPOX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 POLRMT Sarah Leigh reviewed gene: POLRMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 OXCT1 Sarah Leigh reviewed gene: OXCT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 NSUN3 Sarah Leigh reviewed gene: NSUN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 NDUFAF7 Sarah Leigh reviewed gene: NDUFAF7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 MRPS14 Sarah Leigh reviewed gene: MRPS14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 MRM2 Sarah Leigh reviewed gene: MRM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 L2HGDH Sarah Leigh reviewed gene: L2HGDH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 IDH3A Sarah Leigh reviewed gene: IDH3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 HTT Sarah Leigh reviewed gene: HTT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 HMGCS2 Sarah Leigh reviewed gene: HMGCS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 HADHB Sarah Leigh reviewed gene: HADHB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 HADHA Sarah Leigh reviewed gene: HADHA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 HADH Sarah Leigh reviewed gene: HADH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 ETFB Sarah Leigh reviewed gene: ETFB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 ETFA Sarah Leigh reviewed gene: ETFA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 ERAL1 Sarah Leigh reviewed gene: ERAL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 D2HGDH Sarah Leigh reviewed gene: D2HGDH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 CPT2 Sarah Leigh reviewed gene: CPT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 CPT1A Sarah Leigh reviewed gene: CPT1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 COX6B2 Sarah Leigh reviewed gene: COX6B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 COX6A2 Sarah Leigh reviewed gene: COX6A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 COX19 Sarah Leigh reviewed gene: COX19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 COX18 Sarah Leigh reviewed gene: COX18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 COX17 Sarah Leigh reviewed gene: COX17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 COX16 Sarah Leigh reviewed gene: COX16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 COX11 Sarah Leigh reviewed gene: COX11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 COQ5 Sarah Leigh reviewed gene: COQ5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 COASY Sarah Leigh reviewed gene: COASY: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 COA4 Sarah Leigh reviewed gene: COA4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 CISD2 Sarah Leigh reviewed gene: CISD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 ATPAF1 Sarah Leigh reviewed gene: ATPAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 ATP5L2 Sarah Leigh reviewed gene: ATP5L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 ATP5L Sarah Leigh reviewed gene: ATP5L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 ATP5J2 Sarah Leigh reviewed gene: ATP5J2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 ATP5H Sarah Leigh reviewed gene: ATP5H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 ATP5F1 Sarah Leigh reviewed gene: ATP5F1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 ACAT1 Sarah Leigh reviewed gene: ACAT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 ACADVL Sarah Leigh reviewed gene: ACADVL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 ACADSB Sarah Leigh reviewed gene: ACADSB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 ACADS Sarah Leigh reviewed gene: ACADS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.412 ACADM Sarah Leigh reviewed gene: ACADM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.411 YME1L1 Sarah Leigh gene: YME1L1 was added
gene: YME1L1 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: YME1L1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: YME1L1 were set to ?Optic atrophy 11, 617302
Mitochondrial disorders v1.411 WFS1 Sarah Leigh gene: WFS1 was added
gene: WFS1 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: WFS1 were set to Wolfram syndrome 1, 222300; Deafness, autosomal dominant 6/14/38, 600965; Wolfram-like syndrome, autosomal dominant, 614296
Mitochondrial disorders v1.411 UQCR11 Sarah Leigh gene: UQCR11 was added
gene: UQCR11 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: UQCR11 was set to Unknown
Phenotypes for gene: UQCR11 were set to No OMIM phenotype
Mitochondrial disorders v1.411 UQCR10 Sarah Leigh gene: UQCR10 was added
gene: UQCR10 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: UQCR10 was set to Unknown
Phenotypes for gene: UQCR10 were set to No OMIM phenotype
Mitochondrial disorders v1.411 UQCC1 Sarah Leigh gene: UQCC1 was added
gene: UQCC1 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: UQCC1 was set to Unknown
Phenotypes for gene: UQCC1 were set to No OMIM phenotype
Mitochondrial disorders v1.411 TMEM65 Sarah Leigh gene: TMEM65 was added
gene: TMEM65 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TMEM65 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TMEM65 were set to 28295037
Phenotypes for gene: TMEM65 were set to No OMIM phenotype
Mitochondrial disorders v1.411 TIMM22 Sarah Leigh gene: TIMM22 was added
gene: TIMM22 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TIMM22 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TIMM22 were set to 30452684
Phenotypes for gene: TIMM22 were set to No OMIM phenotype
Mitochondrial disorders v1.411 TFAM Sarah Leigh gene: TFAM was added
gene: TFAM was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: TFAM was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFAM were set to 27448789
Phenotypes for gene: TFAM were set to ?Mitochondrial DNA depletion syndrome 15 (hepatocerebral type), 617156
Mitochondrial disorders v1.411 SSBP1 Sarah Leigh gene: SSBP1 was added
gene: SSBP1 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SSBP1 was set to Unknown
Publications for gene: SSBP1 were set to 29182774
Phenotypes for gene: SSBP1 were set to No OMIM phenotype
Mitochondrial disorders v1.411 SLC52A3 Sarah Leigh gene: SLC52A3 was added
gene: SLC52A3 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, 211530
Mitochondrial disorders v1.411 SLC52A2 Sarah Leigh gene: SLC52A2 was added
gene: SLC52A2 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, 614707
Mitochondrial disorders v1.411 SLC25A21 Sarah Leigh gene: SLC25A21 was added
gene: SLC25A21 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SLC25A21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A21 were set to 29517768
Phenotypes for gene: SLC25A21 were set to No OMIM phenotype
Mitochondrial disorders v1.411 SLC25A20 Sarah Leigh gene: SLC25A20 was added
gene: SLC25A20 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SLC25A20 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC25A20 were set to Carnitine-acylcarnitine translocase deficiency, 212138
Mitochondrial disorders v1.411 SLC22A5 Sarah Leigh gene: SLC22A5 was added
gene: SLC22A5 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, 212140
Mitochondrial disorders v1.411 SDHAF4 Sarah Leigh gene: SDHAF4 was added
gene: SDHAF4 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SDHAF4 was set to Unknown
Phenotypes for gene: SDHAF4 were set to No OMIM phenotype
Mitochondrial disorders v1.411 SDHAF3 Sarah Leigh gene: SDHAF3 was added
gene: SDHAF3 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: SDHAF3 was set to Unknown
Phenotypes for gene: SDHAF3 were set to No OMIM phenotype
Mitochondrial disorders v1.411 PTCD3 Sarah Leigh gene: PTCD3 was added
gene: PTCD3 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: PTCD3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTCD3 were set to 30607703
Phenotypes for gene: PTCD3 were set to No OMIM phenotype
Mitochondrial disorders v1.411 PPOX Sarah Leigh gene: PPOX was added
gene: PPOX was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: PPOX was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PPOX were set to Porphyria variegata, 176200
Mitochondrial disorders v1.411 POLRMT Sarah Leigh gene: POLRMT was added
gene: POLRMT was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: POLRMT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLRMT were set to No OMIM phenotype
Mitochondrial disorders v1.411 OXCT1 Sarah Leigh gene: OXCT1 was added
gene: OXCT1 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: OXCT1 were set to Succinyl CoA:3-oxoacid CoA transferase deficiency, 245050
Mitochondrial disorders v1.411 NSUN3 Sarah Leigh gene: NSUN3 was added
gene: NSUN3 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: NSUN3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NSUN3 were set to 27356879
Phenotypes for gene: NSUN3 were set to No OMIM phenotype
Mitochondrial disorders v1.411 NDUFAF7 Sarah Leigh gene: NDUFAF7 was added
gene: NDUFAF7 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: NDUFAF7 was set to Unknown
Publications for gene: NDUFAF7 were set to 28837730
Phenotypes for gene: NDUFAF7 were set to No OMIM phenotype
Mitochondrial disorders v1.411 MRPS14 Sarah Leigh gene: MRPS14 was added
gene: MRPS14 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: MRPS14 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRPS14 were set to 30358850
Phenotypes for gene: MRPS14 were set to No OMIM phenotype
Mitochondrial disorders v1.411 MRM2 Sarah Leigh gene: MRM2 was added
gene: MRM2 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: MRM2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MRM2 were set to 28973171
Phenotypes for gene: MRM2 were set to No OMIM phenotype
Mitochondrial disorders v1.411 L2HGDH Sarah Leigh gene: L2HGDH was added
gene: L2HGDH was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria, 236792
Mitochondrial disorders v1.411 IDH3A Sarah Leigh gene: IDH3A was added
gene: IDH3A was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: IDH3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IDH3A were set to 28412069; 28058510
Phenotypes for gene: IDH3A were set to Retinitis pigmentosa with macular pseudocoloboma; Infantile encephalopathy
Mitochondrial disorders v1.411 HTT Sarah Leigh gene: HTT was added
gene: HTT was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: HTT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HTT were set to Huntington disease, 143100
Mitochondrial disorders v1.411 HMGCS2 Sarah Leigh gene: HMGCS2 was added
gene: HMGCS2 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMGCS2 were set to HMG-CoA synthase-2 deficiency, 605911
Mitochondrial disorders v1.411 HADHB Sarah Leigh gene: HADHB was added
gene: HADHB was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015
Mitochondrial disorders v1.411 HADHA Sarah Leigh gene: HADHA was added
gene: HADHA was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADHA were set to LCHAD deficiency, 609016; Trifunctional protein deficiency, 609015
Mitochondrial disorders v1.411 HADH Sarah Leigh gene: HADH was added
gene: HADH was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HADH were set to 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530; Hyperinsulinemic hypoglycemia, familial, 4, 609975
Mitochondrial disorders v1.411 ETFB Sarah Leigh gene: ETFB was added
gene: ETFB was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFB were set to Glutaric acidemia IIB ,231680
Mitochondrial disorders v1.411 ETFA Sarah Leigh gene: ETFA was added
gene: ETFA was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ETFA were set to Glutaric acidemia IIA ,231680
Mitochondrial disorders v1.411 ERAL1 Sarah Leigh gene: ERAL1 was added
gene: ERAL1 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ERAL1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ERAL1 were set to Perrault syndrome 6, 617565
Mitochondrial disorders v1.411 D2HGDH Sarah Leigh gene: D2HGDH was added
gene: D2HGDH was added to Mitochondrial disorders. 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, 600721
Mitochondrial disorders v1.411 CPT2 Sarah Leigh gene: CPT2 was added
gene: CPT2 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: CPT2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: CPT2 were set to CPT II deficiency, myopathic, stress-induced, 255110
Mitochondrial disorders v1.411 CPT1A Sarah Leigh gene: CPT1A was added
gene: CPT1A was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CPT1A were set to CPT deficiency, hepatic, type IA, 255120
Mitochondrial disorders v1.411 COX6B2 Sarah Leigh gene: COX6B2 was added
gene: COX6B2 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: COX6B2 was set to Unknown
Phenotypes for gene: COX6B2 were set to No OMIM phenotype
Mitochondrial disorders v1.411 COX6A2 Sarah Leigh gene: COX6A2 was added
gene: COX6A2 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: COX6A2 was set to Unknown
Phenotypes for gene: COX6A2 were set to No OMIM phenotype
Mitochondrial disorders v1.411 COX19 Sarah Leigh gene: COX19 was added
gene: COX19 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: COX19 was set to Unknown
Phenotypes for gene: COX19 were set to No OMIM phenotype
Mitochondrial disorders v1.411 COX18 Sarah Leigh gene: COX18 was added
gene: COX18 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: COX18 was set to Unknown
Phenotypes for gene: COX18 were set to No OMIM phenotype
Mitochondrial disorders v1.411 COX17 Sarah Leigh gene: COX17 was added
gene: COX17 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: COX17 was set to Unknown
Phenotypes for gene: COX17 were set to No OMIM phenotype
Mitochondrial disorders v1.411 COX16 Sarah Leigh gene: COX16 was added
gene: COX16 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: COX16 was set to Unknown
Phenotypes for gene: COX16 were set to No OMIM phenotype
Mitochondrial disorders v1.411 COX11 Sarah Leigh gene: COX11 was added
gene: COX11 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: COX11 was set to Unknown
Phenotypes for gene: COX11 were set to No OMIM phenotype
Mitochondrial disorders v1.411 COQ5 Sarah Leigh gene: COQ5 was added
gene: COQ5 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: COQ5 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COQ5 were set to 29044765
Phenotypes for gene: COQ5 were set to No OMIM phenotype
Mitochondrial disorders v1.411 COASY Sarah Leigh gene: COASY was added
gene: COASY was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COASY were set to Neurodegeneration with brain iron accumulation 6, 615643; Pontocerebellar hypoplasia, type 12, 618266
Mitochondrial disorders v1.411 COA4 Sarah Leigh gene: COA4 was added
gene: COA4 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: COA4 was set to Unknown
Phenotypes for gene: COA4 were set to No OMIM phenotype
Mitochondrial disorders v1.411 CISD2 Sarah Leigh gene: CISD2 was added
gene: CISD2 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: CISD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CISD2 were set to Wolfram syndrome 2, 604928
Mitochondrial disorders v1.411 ATPAF1 Sarah Leigh gene: ATPAF1 was added
gene: ATPAF1 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ATPAF1 was set to Unknown
Phenotypes for gene: ATPAF1 were set to No OMIM phenotype
Mitochondrial disorders v1.411 ATP5L2 Sarah Leigh gene: ATP5L2 was added
gene: ATP5L2 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ATP5L2 was set to Unknown
Phenotypes for gene: ATP5L2 were set to No OMIM phenotype
Mitochondrial disorders v1.411 ATP5L Sarah Leigh gene: ATP5L was added
gene: ATP5L was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ATP5L was set to Unknown
Phenotypes for gene: ATP5L were set to No OMIM phenotype
Mitochondrial disorders v1.411 ATP5J2 Sarah Leigh gene: ATP5J2 was added
gene: ATP5J2 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ATP5J2 was set to Unknown
Phenotypes for gene: ATP5J2 were set to No OMIM phenotype
Mitochondrial disorders v1.411 ATP5H Sarah Leigh gene: ATP5H was added
gene: ATP5H was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ATP5H was set to Unknown
Phenotypes for gene: ATP5H were set to No OMIM phenotype
Mitochondrial disorders v1.411 ATP5F1 Sarah Leigh gene: ATP5F1 was added
gene: ATP5F1 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Amber
Mode of inheritance for gene: ATP5F1 was set to Unknown
Phenotypes for gene: ATP5F1 were set to No OMIM phenotype
Mitochondrial disorders v1.411 ACAT1 Sarah Leigh gene: ACAT1 was added
gene: ACAT1 was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria, 203750
Mitochondrial disorders v1.411 ACADVL Sarah Leigh gene: ACADVL was added
gene: ACADVL was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADVL were set to VLCAD deficiency, 201475
Mitochondrial disorders v1.411 ACADSB Sarah Leigh gene: ACADSB was added
gene: ACADSB was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ACADSB was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADSB were set to 2-methylbutyrylglycinuria, 610006
Mitochondrial disorders v1.411 ACADS Sarah Leigh gene: ACADS was added
gene: ACADS was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ACADS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADS were set to Acyl-CoA dehydrogenase, short-chain, deficiency of, 201470
Mitochondrial disorders v1.411 ACADM Sarah Leigh gene: ACADM was added
gene: ACADM was added to Mitochondrial disorders. Sources: NHS GMS,Expert Review Red
Mode of inheritance for gene: ACADM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ACADM were set to Acyl-CoA dehydrogenase, medium chain, deficiency of, 201450
Thoracic aortic aneurysm or dissection (GMS) v0.5 MYLK Matthew Edwards reviewed gene: MYLK: Rating: GREEN; Mode of pathogenicity: None; Publications: 27586135, 21055718, 25907466; Phenotypes: Aortic aneurysm, familial thoracic 7 (613780); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Thrombophilia with a likely monogenic cause v0.39 PLAT Louise Daugherty Classified gene: PLAT as Amber List (moderate evidence)
Thrombophilia with a likely monogenic cause v0.39 PLAT Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Amber.
Thrombophilia with a likely monogenic cause v0.39 PLAT Louise Daugherty Gene: plat has been classified as Amber List (Moderate Evidence).
Thrombophilia with a likely monogenic cause v0.38 PLAT Louise Daugherty commented on gene: PLAT: Discrepant reviews, to be discussed at July workshop to agree rating.
Rare anaemia v0.76 TRNT1 Louise Daugherty Mode of inheritance for gene: TRNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.178 SLC25A12 Rebecca Foulger commented on gene: SLC25A12
Rare anaemia v0.75 RPL31 Louise Daugherty Mode of inheritance for gene: RPL31 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Rare anaemia v0.74 HSPA9 Louise Daugherty Mode of inheritance for gene: HSPA9 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare anaemia v0.73 HBD Louise Daugherty Mode of inheritance for gene: HBD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Rare anaemia v0.72 GSR Louise Daugherty Mode of inheritance for gene: GSR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.71 CYB5R3 Louise Daugherty Mode of inheritance for gene: CYB5R3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Cytopenias and congenital anaemias v1.71 ADA2 Louise Daugherty commented on gene: ADA2: changed MOI due to updating panels for GMS
Cytopenias and congenital anaemias v1.71 ADA2 Louise Daugherty Mode of inheritance for gene: ADA2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.70 ADA2 Louise Daugherty Mode of inheritance for gene: ADA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Rare anaemia v0.69 TMPRSS6 Louise Daugherty Classified gene: TMPRSS6 as Green List (high evidence)
Rare anaemia v0.69 TMPRSS6 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be Green
Rare anaemia v0.69 TMPRSS6 Louise Daugherty Gene: tmprss6 has been classified as Green List (High Evidence).
Rare anaemia v0.68 SLC11A2 Louise Daugherty Classified gene: SLC11A2 as Green List (high evidence)
Rare anaemia v0.68 SLC11A2 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be Green
Rare anaemia v0.68 SLC11A2 Louise Daugherty Gene: slc11a2 has been classified as Green List (High Evidence).
Rare anaemia v0.67 SBDS Louise Daugherty Classified gene: SBDS as Green List (high evidence)
Rare anaemia v0.67 SBDS Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be Green
Rare anaemia v0.67 SBDS Louise Daugherty Gene: sbds has been classified as Green List (High Evidence).
Rare anaemia v0.66 RPS17 Louise Daugherty Classified gene: RPS17 as Green List (high evidence)
Rare anaemia v0.66 RPS17 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be Green
Rare anaemia v0.66 RPS17 Louise Daugherty Gene: rps17 has been classified as Green List (High Evidence).
Intellectual disability v2.965 ATN1 Catherine Snow Phenotypes for gene: ATN1 were changed from Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures; Feeding difficulties; Abnormality of the cardiovascular system; Cleft palate; Abnormality of the kidney to Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures; Feeding difficulties; Abnormality of the cardiovascular system; Cleft palate; Abnormality of the kidney
Rare anaemia v0.65 GSR Louise Daugherty Classified gene: GSR as Green List (high evidence)
Rare anaemia v0.65 GSR Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be Green
Rare anaemia v0.65 GSR Louise Daugherty Gene: gsr has been classified as Green List (High Evidence).
Intellectual disability v2.965 ATN1 Catherine Snow Phenotypes for gene: ATN1 were changed from Dentatorubro-pallidoluysian atrophy 125370 to Generalized hypotonia; Global developmental delay; Intellectual disability; Seizures; Feeding difficulties; Abnormality of the cardiovascular system; Cleft palate; Abnormality of the kidney
Rare anaemia v0.64 TRNT1 Louise Daugherty Classified gene: TRNT1 as Green List (high evidence)
Rare anaemia v0.64 TRNT1 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be Green
Rare anaemia v0.64 TRNT1 Louise Daugherty Gene: trnt1 has been classified as Green List (High Evidence).
Intellectual disability v2.964 ATN1 Catherine Snow Publications for gene: ATN1 were set to 24972706; 30827498
Rare anaemia v0.63 RPL31 Louise Daugherty changed review comment from: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be Green; to: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be Green
Intellectual disability v2.964 ATN1 Catherine Snow Publications for gene: ATN1 were set to 24972706
Rare anaemia v0.63 RPL31 Louise Daugherty Classified gene: RPL31 as Green List (high evidence)
Rare anaemia v0.63 RPL31 Louise Daugherty Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be Green
Rare anaemia v0.63 RPL31 Louise Daugherty Gene: rpl31 has been classified as Green List (High Evidence).
Rare anaemia v0.62 CD59 Louise Daugherty Classified gene: CD59 as Green List (high evidence)
Rare anaemia v0.62 CD59 Louise Daugherty Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be Green
Rare anaemia v0.62 CD59 Louise Daugherty Gene: cd59 has been classified as Green List (High Evidence).
Intellectual disability v2.963 ATN1 Catherine Snow changed review comment from: As reviewed on the Genetic epilepsy syndromes (Version 1.178). Advice from the clinical team was that as phenotype is relevant it can be rated as Green.

Konstantinos Varvagiannis reviewed Palmer et al. (2019 - PMID: 30827498) who describes 8 individuals all with de novo variants in a specific and highly evolutionary conserved histidine-rich 16 amino acid motif encoded by exon 7 of ATN1. The pedigree analysis showed that all individuals are unrelated with different ancestry, all except one had undergone trio sequencing.

All individuals have DD/ID and 5/8 have seizures therefore making it applicable to the epilepsy panel. ATN1 is in OMIM but is associated with the STR, it is in Gene2Phenotype as probable based on this paper.

ATN1_CAG STR is Green in a large number of panels and there are a number of publications associated with the STR. This is the first publication where variants within the gene and not the STR have been associated with this phenotype; to: As reviewed on the Genetic epilepsy syndromes (Version 1.178). Advice from the clinical team was that as phenotype is relevant it can be rated as Green.

Konstantinos Varvagiannis reviewed Palmer et al. (2019 - PMID: 30827498) who describes 8 individuals all with de novo variants in a specific and highly evolutionary conserved histidine-rich 16 amino acid motif encoded by exon 7 of ATN1. The pedigree analysis showed that all individuals are unrelated with different ancestry, all except one had undergone trio sequencing.

All individuals have DD/ID. ATN1 is in OMIM but is associated with the STR, it is in Gene2Phenotype as probable based on this paper.

ATN1_CAG STR is Green in a large number of panels and there are a number of publications associated with the STR. This is the first publication where variants within the gene and not the STR have been associated with this phenotype
Rare anaemia v0.61 DKC1 Louise Daugherty Classified gene: DKC1 as Red List (low evidence)
Rare anaemia v0.61 DKC1 Louise Daugherty Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red
Rare anaemia v0.61 DKC1 Louise Daugherty Gene: dkc1 has been classified as Red List (Low Evidence).
Rare anaemia v0.60 SF3B1 Louise Daugherty Classified gene: SF3B1 as Red List (low evidence)
Rare anaemia v0.60 SF3B1 Louise Daugherty Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red
Rare anaemia v0.60 SF3B1 Louise Daugherty Gene: sf3b1 has been classified as Red List (Low Evidence).
Rare anaemia v0.59 XK Louise Daugherty Classified gene: XK as Green List (high evidence)
Rare anaemia v0.59 XK Louise Daugherty Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be Green.
Rare anaemia v0.59 XK Louise Daugherty Gene: xk has been classified as Green List (High Evidence).
Intellectual disability v2.963 ATN1 Catherine Snow Mode of pathogenicity for gene: ATN1 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
Rare anaemia v0.58 UMPS Louise Daugherty Classified gene: UMPS as Green List (high evidence)
Rare anaemia v0.58 UMPS Louise Daugherty Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be Green
Rare anaemia v0.58 UMPS Louise Daugherty Gene: umps has been classified as Green List (High Evidence).
Intellectual disability v2.962 ATN1 Catherine Snow Classified gene: ATN1 as Green List (high evidence)
Intellectual disability v2.962 ATN1 Catherine Snow Gene: atn1 has been classified as Green List (High Evidence).
Rare anaemia v0.57 GIF Louise Daugherty changed review comment from: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should Green.; to: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should Green.
Intellectual disability v2.962 ATN1 Catherine Snow Classified gene: ATN1 as Green List (high evidence)
Intellectual disability v2.962 ATN1 Catherine Snow Gene: atn1 has been classified as Green List (High Evidence).
Rare anaemia v0.57 GIF Louise Daugherty Deleted their comment
Rare anaemia v0.57 GIF Louise Daugherty Classified gene: GIF as Green List (high evidence)
Rare anaemia v0.57 GIF Louise Daugherty Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should Green.
Rare anaemia v0.57 GIF Louise Daugherty Gene: gif has been classified as Green List (High Evidence).
Rare anaemia v0.56 GIF Louise Daugherty Classified gene: GIF as Red List (low evidence)
Rare anaemia v0.56 GIF Louise Daugherty Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red
Rare anaemia v0.56 GIF Louise Daugherty Gene: gif has been classified as Red List (Low Evidence).
Intellectual disability v2.961 ATN1 Catherine Snow reviewed gene: ATN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Rare anaemia v0.55 FTCD Louise Daugherty Classified gene: FTCD as Red List (low evidence)
Rare anaemia v0.55 FTCD Louise Daugherty Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red
Rare anaemia v0.55 FTCD Louise Daugherty Gene: ftcd has been classified as Red List (Low Evidence).
Rare anaemia v0.54 PGK1 Louise Daugherty Classified gene: PGK1 as Amber List (moderate evidence)
Rare anaemia v0.54 PGK1 Louise Daugherty Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Amber
Rare anaemia v0.54 PGK1 Louise Daugherty Gene: pgk1 has been classified as Amber List (Moderate Evidence).
Rare anaemia v0.53 HBE1 Louise Daugherty Classified gene: HBE1 as Red List (low evidence)
Rare anaemia v0.53 HBE1 Louise Daugherty Added comment: Comment on list classification: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red
Rare anaemia v0.53 HBE1 Louise Daugherty Gene: hbe1 has been classified as Red List (Low Evidence).
Rare anaemia v0.52 ATRX Louise Daugherty Classified gene: ATRX as Red List (low evidence)
Rare anaemia v0.52 ATRX Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red
Rare anaemia v0.52 ATRX Louise Daugherty Gene: atrx has been classified as Red List (Low Evidence).
Rare anaemia v0.51 ADA2 Louise Daugherty Classified gene: ADA2 as Green List (high evidence)
Rare anaemia v0.51 ADA2 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Rare anaemia v0.51 ADA2 Louise Daugherty Gene: ada2 has been classified as Green List (High Evidence).
Rare anaemia v0.50 RPL26 Louise Daugherty Classified gene: RPL26 as Green List (high evidence)
Rare anaemia v0.50 RPL26 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Rare anaemia v0.50 RPL26 Louise Daugherty Gene: rpl26 has been classified as Green List (High Evidence).
Rare anaemia v0.49 RPL27 Louise Daugherty Classified gene: RPL27 as Green List (high evidence)
Rare anaemia v0.49 RPL27 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Rare anaemia v0.49 RPL27 Louise Daugherty Gene: rpl27 has been classified as Green List (High Evidence).
Rare anaemia v0.48 YARS2 Louise Daugherty Classified gene: YARS2 as Green List (high evidence)
Rare anaemia v0.48 YARS2 Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.
Rare anaemia v0.48 YARS2 Louise Daugherty Gene: yars2 has been classified as Green List (High Evidence).
Rare anaemia v0.47 YARS2 Louise Daugherty commented on gene: YARS2: Discrepant reviews, to be discussed at July workshop to agree rating.
Rare anaemia v0.47 TF Louise Daugherty Classified gene: TF as Green List (high evidence)
Rare anaemia v0.47 TF Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.
Rare anaemia v0.47 TF Louise Daugherty Gene: tf has been classified as Green List (High Evidence).
Rare anaemia v0.46 TF Louise Daugherty commented on gene: TF: Discrepant reviews, to be discussed at July workshop to agree rating.
Rare anaemia v0.46 TCN2 Louise Daugherty Classified gene: TCN2 as Green List (high evidence)
Rare anaemia v0.46 TCN2 Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.
Rare anaemia v0.46 TCN2 Louise Daugherty Gene: tcn2 has been classified as Green List (High Evidence).
Rare anaemia v0.45 TCN2 Louise Daugherty commented on gene: TCN2: Discrepant reviews, to be discussed at July workshop to agree rating.
Rare anaemia v0.45 PUS1 Louise Daugherty Classified gene: PUS1 as Green List (high evidence)
Rare anaemia v0.45 PUS1 Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.
Rare anaemia v0.45 PUS1 Louise Daugherty Gene: pus1 has been classified as Green List (High Evidence).
Rare anaemia v0.44 PUS1 Louise Daugherty commented on gene: PUS1: Discrepant reviews, to be discussed at July workshop to agree rating.
Rare anaemia v0.44 MTRR Louise Daugherty Classified gene: MTRR as Green List (high evidence)
Rare anaemia v0.44 MTRR Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.
Rare anaemia v0.44 MTRR Louise Daugherty Gene: mtrr has been classified as Green List (High Evidence).
Rare anaemia v0.43 MTRR Louise Daugherty commented on gene: MTRR: Discrepant reviews, to be discussed at July workshop to agree rating.
Rare anaemia v0.43 MTR Louise Daugherty Classified gene: MTR as Green List (high evidence)
Rare anaemia v0.43 MTR Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.
Rare anaemia v0.43 MTR Louise Daugherty Gene: mtr has been classified as Green List (High Evidence).
Rare anaemia v0.42 MTR Louise Daugherty commented on gene: MTR: Discrepant reviews, to be discussed at July workshop to agree rating.
Rare anaemia v0.42 DHFR Louise Daugherty Classified gene: DHFR as Green List (high evidence)
Rare anaemia v0.42 DHFR Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.
Rare anaemia v0.42 DHFR Louise Daugherty Gene: dhfr has been classified as Green List (High Evidence).
Rare anaemia v0.41 DHFR Louise Daugherty commented on gene: DHFR: Discrepant reviews, to be discussed at July workshop to agree rating.
Rare anaemia v0.41 CUBN Louise Daugherty Classified gene: CUBN as Green List (high evidence)
Rare anaemia v0.41 CUBN Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.
Rare anaemia v0.41 CUBN Louise Daugherty Gene: cubn has been classified as Green List (High Evidence).
Rare anaemia v0.40 CUBN Louise Daugherty commented on gene: CUBN: Discrepant reviews, to be discussed at July workshop to agree rating.
Rare anaemia v0.40 COX4I2 Louise Daugherty Classified gene: COX4I2 as Green List (high evidence)
Rare anaemia v0.40 COX4I2 Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.
Rare anaemia v0.40 COX4I2 Louise Daugherty Gene: cox4i2 has been classified as Green List (High Evidence).
Rare anaemia v0.39 COX4I2 Louise Daugherty commented on gene: COX4I2: Discrepant reviews, to be discussed at July workshop to agree rating.
Rare anaemia v0.39 AMN Louise Daugherty Classified gene: AMN as Green List (high evidence)
Rare anaemia v0.39 AMN Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.
Rare anaemia v0.39 AMN Louise Daugherty Gene: amn has been classified as Green List (High Evidence).
Rare anaemia v0.38 AMN Louise Daugherty commented on gene: AMN: Discrepant reviews, to be discussed at July workshop to agree rating.
Rare anaemia v0.38 AK1 Louise Daugherty Classified gene: AK1 as Green List (high evidence)
Rare anaemia v0.38 AK1 Louise Daugherty Added comment: Comment on list classification: Upgraded from Amber to Green. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is enough evidence to rate this gene Green.
Rare anaemia v0.38 AK1 Louise Daugherty Gene: ak1 has been classified as Green List (High Evidence).
Rare anaemia v0.37 AK1 Louise Daugherty commented on gene: AK1: Discrepant reviews, to be discussed at July workshop to agree rating.
Rare anaemia v0.37 LPIN2 Louise Daugherty Classified gene: LPIN2 as Green List (high evidence)
Rare anaemia v0.37 LPIN2 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Green
Rare anaemia v0.37 LPIN2 Louise Daugherty Gene: lpin2 has been classified as Green List (High Evidence).
Rare anaemia v0.36 LPIN2 Louise Daugherty commented on gene: LPIN2: Discrepant reviews, to be discussed at July workshop to agree rating.
Iron metabolism disorders - NOT common HFE mutations v0.53 ATP7B Louise Daugherty Classified gene: ATP7B as Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.53 ATP7B Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Iron metabolism disorders - NOT common HFE mutations v0.53 ATP7B Louise Daugherty Gene: atp7b has been classified as Green List (High Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.52 ABCB7 Louise Daugherty Classified gene: ABCB7 as Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.52 ABCB7 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Iron metabolism disorders - NOT common HFE mutations v0.52 ABCB7 Louise Daugherty Gene: abcb7 has been classified as Green List (High Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.51 ALAS2 Louise Daugherty Classified gene: ALAS2 as Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.51 ALAS2 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Iron metabolism disorders - NOT common HFE mutations v0.51 ALAS2 Louise Daugherty Gene: alas2 has been classified as Green List (High Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.50 GLRX5 Louise Daugherty Classified gene: GLRX5 as Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.50 GLRX5 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Iron metabolism disorders - NOT common HFE mutations v0.50 GLRX5 Louise Daugherty Gene: glrx5 has been classified as Green List (High Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.49 SLC25A38 Louise Daugherty Classified gene: SLC25A38 as Green List (high evidence)
Iron metabolism disorders - NOT common HFE mutations v0.49 SLC25A38 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be in this panel and there is enough evidence to rate this gene Green.
Iron metabolism disorders - NOT common HFE mutations v0.49 SLC25A38 Louise Daugherty Gene: slc25a38 has been classified as Green List (High Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.48 FECH Louise Daugherty Classified gene: FECH as Amber List (moderate evidence)
Iron metabolism disorders - NOT common HFE mutations v0.48 FECH Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Amber.
Iron metabolism disorders - NOT common HFE mutations v0.48 FECH Louise Daugherty Gene: fech has been classified as Amber List (Moderate Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.47 SERPINA1 Louise Daugherty Classified gene: SERPINA1 as Red List (low evidence)
Iron metabolism disorders - NOT common HFE mutations v0.47 SERPINA1 Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Red. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Red.
Iron metabolism disorders - NOT common HFE mutations v0.47 SERPINA1 Louise Daugherty Gene: serpina1 has been classified as Red List (Low Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.46 HEPH Louise Daugherty changed review comment from: Comment on list classification: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Amber.; to: Comment on list classification: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Amber.

Discrepant reviews, to be discussed at July workshop to agree rating.
Iron metabolism disorders - NOT common HFE mutations v0.46 HEPH Louise Daugherty Classified gene: HEPH as Amber List (moderate evidence)
Iron metabolism disorders - NOT common HFE mutations v0.46 HEPH Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Amber.
Iron metabolism disorders - NOT common HFE mutations v0.46 HEPH Louise Daugherty Gene: heph has been classified as Amber List (Moderate Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.45 SEC23B Louise Daugherty Classified gene: SEC23B as Red List (low evidence)
Iron metabolism disorders - NOT common HFE mutations v0.45 SEC23B Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Red. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Red. It is Green on the rare anaemias panel
Iron metabolism disorders - NOT common HFE mutations v0.45 SEC23B Louise Daugherty Gene: sec23b has been classified as Red List (Low Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.44 FTH1 Louise Daugherty changed review comment from: Comment on list classification: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Amber.; to: Comment on list classification: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Amber.
Iron metabolism disorders - NOT common HFE mutations v0.44 CDAN1 Louise Daugherty Classified gene: CDAN1 as Red List (low evidence)
Iron metabolism disorders - NOT common HFE mutations v0.44 CDAN1 Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Red. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Red. YNEGLH noted that it is Green on the Rare Anaemia panel.
Iron metabolism disorders - NOT common HFE mutations v0.44 CDAN1 Louise Daugherty Gene: cdan1 has been classified as Red List (Low Evidence).
Early onset or syndromic epilepsy v1.178 ALKBH8 Catherine Snow edited their review of gene: ALKBH8: Changed rating: GREEN
Iron metabolism disorders - NOT common HFE mutations v0.43 CDAN1 Louise Daugherty commented on gene: CDAN1: Discrepant reviews, to be discussed at July workshop to agree rating.
Early onset or syndromic epilepsy v1.178 ALKBH8 Catherine Snow changed review comment from: Expert review by Konstantinos Varvagiannis on ALKBH8. Monies et al. (2019 - PMID: 31079898) report on 7 individuals from 2 different consanguineous Saudi families, harboring homozygous truncating ALKBH8 pathogenic variants. The same individuals are included in another concurrent publication from the same group (Monies et al. 2019 - PMID: 31130284).

Epilepsy was reported for 6/7 individuals although the type has not been commented on (onset 9-12 months to 2 years). Variable other phenotype features were noted in few.

ALKBH8 is not currently associated with any phenotype in OMIM / G2P.


ALKBH8 can be included in the epilepsy panel as Amber awaiting further evidence and tagged on the watchlist.; to: ALKBH8 had been identified by Genomic England curator when article was in press. Requested clinical team for support on rating on ID panel, clinical team advised "there are 7 affected individuals from two families with different LOF variants. They all have ID / GDD. There has been some functional work to indicate a lack of gene function in support. On balance I think this just meets our criteria for a green rating. 6/7 had seizures too so probably worth adding there too."
Iron metabolism disorders - NOT common HFE mutations v0.43 FTH1 Louise Daugherty Classified gene: FTH1 as Amber List (moderate evidence)
Iron metabolism disorders - NOT common HFE mutations v0.43 FTH1 Louise Daugherty Added comment: Comment on list classification: Downgraded from Green to Amber. As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. All agreed that there is only enough evidence to rate this gene to Amber.
Iron metabolism disorders - NOT common HFE mutations v0.43 FTH1 Louise Daugherty Gene: fth1 has been classified as Amber List (Moderate Evidence).
Iron metabolism disorders - NOT common HFE mutations v0.42 FTH1 Louise Daugherty commented on gene: FTH1: Discrepant reviews, to be discussed at July workshop to agree rating.
Cytopenia - NOT Fanconi anaemia v0.118 TP53 Louise Daugherty Classified gene: TP53 as Red List (low evidence)
Cytopenia - NOT Fanconi anaemia v0.118 TP53 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH the gene is associated with breast cancer rather than cytopenia
Cytopenia - NOT Fanconi anaemia v0.118 TP53 Louise Daugherty Gene: tp53 has been classified as Red List (Low Evidence).
Cytopenia - NOT Fanconi anaemia v0.117 STIM1 Louise Daugherty Classified gene: STIM1 as Red List (low evidence)
Cytopenia - NOT Fanconi anaemia v0.117 STIM1 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH as being Green on the Bleeding and Platelet disorders panel but should be Red on this panel
Cytopenia - NOT Fanconi anaemia v0.117 STIM1 Louise Daugherty Gene: stim1 has been classified as Red List (Low Evidence).
Cytopenia - NOT Fanconi anaemia v0.116 SMARCAL1 Louise Daugherty Classified gene: SMARCAL1 as Red List (low evidence)
Cytopenia - NOT Fanconi anaemia v0.116 SMARCAL1 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH as syndromic
Cytopenia - NOT Fanconi anaemia v0.116 SMARCAL1 Louise Daugherty Gene: smarcal1 has been classified as Red List (Low Evidence).
Cytopenia - NOT Fanconi anaemia v0.115 SLC37A4 Louise Daugherty Classified gene: SLC37A4 as Red List (low evidence)
Cytopenia - NOT Fanconi anaemia v0.115 SLC37A4 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH - other discipline (IEM-GSD) so should be Red on this panel
Cytopenia - NOT Fanconi anaemia v0.115 SLC37A4 Louise Daugherty Gene: slc37a4 has been classified as Red List (Low Evidence).
Cytopenia - NOT Fanconi anaemia v0.114 RUNX1 Louise Daugherty Classified gene: RUNX1 as Red List (low evidence)
Cytopenia - NOT Fanconi anaemia v0.114 RUNX1 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH the gene is rated Green on the R90 Bleeding and platelet disorders panel and AML panel but should be Red for R91 Cytopenia - NOT Fanconi anaemia panel
Cytopenia - NOT Fanconi anaemia v0.114 RUNX1 Louise Daugherty Gene: runx1 has been classified as Red List (Low Evidence).
Cytopenia - NOT Fanconi anaemia v0.113 RPS27 Louise Daugherty Classified gene: RPS27 as Red List (low evidence)
Cytopenia - NOT Fanconi anaemia v0.113 RPS27 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH the gene is rated Green on the R92 Rare anaemia panel but should be Red for R91 Cytopenia - NOT Fanconi anaemia panel
Cytopenia - NOT Fanconi anaemia v0.113 RPS27 Louise Daugherty Gene: rps27 has been classified as Red List (Low Evidence).
Cytopenia - NOT Fanconi anaemia v0.112 RPS27 Louise Daugherty Deleted their comment
Cytopenia - NOT Fanconi anaemia v0.112 NBEAL2 Louise Daugherty changed review comment from: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red.; to: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH the gene is rated Green on the R90 Bleeding and platelet disorders panel but should be Red for R91 Cytopenia - NOT Fanconi anaemia panel
Cytopenia - NOT Fanconi anaemia v0.112 MYH9 Louise Daugherty changed review comment from: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red.; to: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH the gene is rated Green on the R90 Bleeding and platelet disorders panel but should be Red for R91 Cytopenia - NOT Fanconi anaemia panel
Cytopenia - NOT Fanconi anaemia v0.112 NBEAL2 Louise Daugherty Classified gene: NBEAL2 as Red List (low evidence)
Cytopenia - NOT Fanconi anaemia v0.112 NBEAL2 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red.
Cytopenia - NOT Fanconi anaemia v0.112 NBEAL2 Louise Daugherty Gene: nbeal2 has been classified as Red List (Low Evidence).
Cytopenia - NOT Fanconi anaemia v0.111 MYH9 Louise Daugherty Classified gene: MYH9 as Red List (low evidence)
Cytopenia - NOT Fanconi anaemia v0.111 MYH9 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red.
Cytopenia - NOT Fanconi anaemia v0.111 MYH9 Louise Daugherty Gene: myh9 has been classified as Red List (Low Evidence).
Cytopenia - NOT Fanconi anaemia v0.110 LIG4 Louise Daugherty Classified gene: LIG4 as Red List (low evidence)
Cytopenia - NOT Fanconi anaemia v0.110 LIG4 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. YNEGLH noted it was syndromic.
Cytopenia - NOT Fanconi anaemia v0.110 LIG4 Louise Daugherty Gene: lig4 has been classified as Red List (Low Evidence).
Cytopenia - NOT Fanconi anaemia v0.109 GP1BA Louise Daugherty Classified gene: GP1BA as Red List (low evidence)
Cytopenia - NOT Fanconi anaemia v0.109 GP1BA Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. Noted by YNEGLH the gene is rated Green on the R90 Bleeding and platelet disorders panel but should be red for R91 Cytopenia - NOT Fanconi anaemia panel
Cytopenia - NOT Fanconi anaemia v0.109 GP1BA Louise Daugherty Gene: gp1ba has been classified as Red List (Low Evidence).
Cytopenia - NOT Fanconi anaemia v0.108 DDX41 Louise Daugherty Classified gene: DDX41 as Red List (low evidence)
Cytopenia - NOT Fanconi anaemia v0.108 DDX41 Louise Daugherty Added comment: Comment on list classification: As discussed with the GMS Haematology Specialist Test Group at workshop 2nd July 2019. Gene was not submitted by all GLHs so needed further review by all the GLHs. All agreed that this gene should be downgraded from Green to Red. YNEGLH noted this is a susceptibility gene.
Cytopenia - NOT Fanconi anaemia v0.108 DDX41 Louise Daugherty Gene: ddx41 has been classified as Red List (Low Evidence).
Cytopenia - NOT Fanconi anaemia v0.107 USB1 Louise Daugherty Mode of inheritance for gene: USB1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Cytopenia - NOT Fanconi anaemia v0.106 RPL31 Louise Daugherty Mode of inheritance for gene: RPL31 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cytopenia - NOT Fanconi anaemia v0.105 RPL27 Louise Daugherty Mode of inheritance for gene: RPL27 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Cytopenia - NOT Fanconi anaemia v0.104 ADA2 Louise Daugherty Mode of inheritance for gene: ADA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Early onset or syndromic epilepsy v1.177 KCNH5 Catherine Snow Source Expert Review Red was added to KCNH5.
Mode of inheritance for gene KCNH5 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes epilepsy for gene: KCNH5
Rating Changed from No List (delete) to Red List (low evidence)
Early onset or syndromic epilepsy v1.177 KCND2 Catherine Snow Source Expert Review Red was added to KCND2.
Mode of inheritance for gene KCND2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Mode of pathogenicity for gene KCND2 was changed from None to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added phenotypes epilepsy; autism for gene: KCND2
Rating Changed from No List (delete) to Red List (low evidence)
Early onset or syndromic epilepsy v1.177 ZNF142 Catherine Snow Source Expert Review was added to ZNF142.
Source Expert Review Amber was added to ZNF142.
Added phenotypes Neurodevelopmental disorder with impaired speech and hyperkinetic movements, 618425 for gene: ZNF142
Rating Changed from No List (delete) to Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.177 ZMIZ1 Catherine Snow Source Expert Review was added to ZMIZ1.
Source Expert Review Amber was added to ZMIZ1.
Publications for gene ZMIZ1 were changed from 29754769; 18053775; 17967885; 26163108; 27479843 to 18053775; 27479843; 29754769; 17967885; 26163108
Rating Changed from No List (delete) to Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.177 TRRAP Catherine Snow Source Expert Review was added to TRRAP.
Source Expert Review Amber was added to TRRAP.
Added phenotypes Developmental delay with or without dysmorphic facies and autism, 603015 for gene: TRRAP
Rating Changed from No List (delete) to Amber List (moderate evidence)
Early onset or syndromic epilepsy v1.177 RNF13 Catherine Snow Source Expert Review was added to RNF13.
Source Expert Review Amber was added to RNF13.
Added phenotypes Epileptic encephalopathy, early infantile, 73 for gene: RNF13
Publications for gene RNF13 were changed from to 30595371
Rating Changed from No List (delete) to Amber List (moderate evidence)