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Hereditary ataxia with onset in adulthood v1.13 NPC1 Louise Daugherty Source London North GMS was added to NPC1.
Hereditary ataxia with onset in adulthood v1.13 NOP56 Louise Daugherty Source London North GMS was added to NOP56.
Hereditary ataxia with onset in adulthood v1.13 NHLRC1 Louise Daugherty Source London North GMS was added to NHLRC1.
Hereditary ataxia with onset in adulthood v1.13 NAGLU Louise Daugherty Source London North GMS was added to NAGLU.
Hereditary ataxia with onset in adulthood v1.13 MSTO1 Louise Daugherty Source London North GMS was added to MSTO1.
Hereditary ataxia with onset in adulthood v1.13 MRE11 Louise Daugherty Source London North GMS was added to MRE11.
Hereditary ataxia with onset in adulthood v1.13 MORC2 Louise Daugherty Source London North GMS was added to MORC2.
Hereditary ataxia with onset in adulthood v1.13 MME Louise Daugherty Source London North GMS was added to MME.
Hereditary ataxia with onset in adulthood v1.13 MFN2 Louise Daugherty Source London North GMS was added to MFN2.
Hereditary ataxia with onset in adulthood v1.13 MARS2 Louise Daugherty Source London North GMS was added to MARS2.
Hereditary ataxia with onset in adulthood v1.13 KCNK18 Louise Daugherty Source London North GMS was added to KCNK18.
Hereditary ataxia with onset in adulthood v1.13 KCND3 Louise Daugherty Source London North GMS was added to KCND3.
Hereditary ataxia with onset in adulthood v1.13 KCNC3 Louise Daugherty Source London North GMS was added to KCNC3.
Hereditary ataxia with onset in adulthood v1.13 ITPR1 Louise Daugherty Source London North GMS was added to ITPR1.
Hereditary ataxia with onset in adulthood v1.13 IRF2BPL Louise Daugherty Source London North GMS was added to IRF2BPL.
Hereditary ataxia with onset in adulthood v1.13 HTT Louise Daugherty Source London North GMS was added to HTT.
Hereditary ataxia with onset in adulthood v1.13 HEXB Louise Daugherty Source London North GMS was added to HEXB.
Hereditary ataxia with onset in adulthood v1.13 HEXA Louise Daugherty Source London North GMS was added to HEXA.
Hereditary ataxia with onset in adulthood v1.13 GRM1 Louise Daugherty Source London North GMS was added to GRM1.
Hereditary ataxia with onset in adulthood v1.13 GJC2 Louise Daugherty Source London North GMS was added to GJC2.
Hereditary ataxia with onset in adulthood v1.13 GFAP Louise Daugherty Source London North GMS was added to GFAP.
Hereditary ataxia with onset in adulthood v1.13 GDAP2 Louise Daugherty Source London North GMS was added to GDAP2.
Hereditary ataxia with onset in adulthood v1.13 GBA2 Louise Daugherty Source London North GMS was added to GBA2.
Hereditary ataxia with onset in adulthood v1.13 FXN Louise Daugherty Source London North GMS was added to FXN.
Hereditary ataxia with onset in adulthood v1.13 FMR1 Louise Daugherty Source London North GMS was added to FMR1.
Hereditary ataxia with onset in adulthood v1.13 FGF14 Louise Daugherty Source London North GMS was added to FGF14.
Hereditary ataxia with onset in adulthood v1.13 EPM2A Louise Daugherty Source London North GMS was added to EPM2A.
Hereditary ataxia with onset in adulthood v1.13 ELOVL5 Louise Daugherty Source London North GMS was added to ELOVL5.
Hereditary ataxia with onset in adulthood v1.13 ELOVL4 Louise Daugherty Source London North GMS was added to ELOVL4.
Hereditary ataxia with onset in adulthood v1.13 EIF2B5 Louise Daugherty Source London North GMS was added to EIF2B5.
Hereditary ataxia with onset in adulthood v1.13 EIF2B4 Louise Daugherty Source London North GMS was added to EIF2B4.
Hereditary ataxia with onset in adulthood v1.13 EIF2B3 Louise Daugherty Source London North GMS was added to EIF2B3.
Hereditary ataxia with onset in adulthood v1.13 EIF2B2 Louise Daugherty Source London North GMS was added to EIF2B2.
Hereditary ataxia with onset in adulthood v1.13 EIF2B1 Louise Daugherty Source London North GMS was added to EIF2B1.
Hereditary ataxia with onset in adulthood v1.13 DNMT1 Louise Daugherty Source London North GMS was added to DNMT1.
Hereditary ataxia with onset in adulthood v1.13 DNAJC5 Louise Daugherty Source London North GMS was added to DNAJC5.
Hereditary ataxia with onset in adulthood v1.13 DARS2 Louise Daugherty Source London North GMS was added to DARS2.
Hereditary ataxia with onset in adulthood v1.13 DAB1 Louise Daugherty Source London North GMS was added to DAB1.
Hereditary ataxia with onset in adulthood v1.13 CYP27A1 Louise Daugherty Source London North GMS was added to CYP27A1.
Hereditary ataxia with onset in adulthood v1.13 CSTB Louise Daugherty Source London North GMS was added to CSTB.
Hereditary ataxia with onset in adulthood v1.13 CP Louise Daugherty Source London North GMS was added to CP.
Hereditary ataxia with onset in adulthood v1.13 COA7 Louise Daugherty Source London North GMS was added to COA7.
Hereditary ataxia with onset in adulthood v1.13 CLN6 Louise Daugherty Source London North GMS was added to CLN6.
Hereditary ataxia with onset in adulthood v1.13 CLCN2 Louise Daugherty Source London North GMS was added to CLCN2.
Hereditary ataxia with onset in adulthood v1.13 CCDC88C Louise Daugherty Source London North GMS was added to CCDC88C.
Hereditary ataxia with onset in adulthood v1.13 CAPN1 Louise Daugherty Source London North GMS was added to CAPN1.
Hereditary ataxia with onset in adulthood v1.13 CACNB4 Louise Daugherty Source London North GMS was added to CACNB4.
Hereditary ataxia with onset in adulthood v1.13 CACNA1G Louise Daugherty Source London North GMS was added to CACNA1G.
Hereditary ataxia with onset in adulthood v1.13 CACNA1A Louise Daugherty Source London North GMS was added to CACNA1A.
Hereditary ataxia with onset in adulthood v1.13 BEAN1 Louise Daugherty Source London North GMS was added to BEAN1.
Hereditary ataxia with onset in adulthood v1.13 ATXN8 Louise Daugherty Source London North GMS was added to ATXN8.
Hereditary ataxia with onset in adulthood v1.13 ATP7B Louise Daugherty Source London North GMS was added to ATP7B.
Hereditary ataxia with onset in adulthood v1.13 ATP2B3 Louise Daugherty Source London North GMS was added to ATP2B3.
Hereditary ataxia with onset in adulthood v1.13 ATP1A3 Louise Daugherty Source London North GMS was added to ATP1A3.
Hereditary ataxia with onset in adulthood v1.13 ATP1A2 Louise Daugherty Source London North GMS was added to ATP1A2.
Hereditary ataxia with onset in adulthood v1.13 ATCAY Louise Daugherty Source London North GMS was added to ATCAY.
Hereditary ataxia with onset in adulthood v1.13 ARSA Louise Daugherty Source London North GMS was added to ARSA.
Hereditary ataxia with onset in adulthood v1.13 ARMC9 Louise Daugherty Source London North GMS was added to ARMC9.
Hereditary ataxia with onset in adulthood v1.13 ANO10 Louise Daugherty Source London North GMS was added to ANO10.
Hereditary ataxia with onset in adulthood v1.13 AFG3L2 Louise Daugherty Source London North GMS was added to AFG3L2.
Hereditary ataxia with onset in adulthood v1.13 ADPRHL2 Louise Daugherty Source London North GMS was added to ADPRHL2.
Hereditary ataxia with onset in adulthood v1.13 ADCY5 Louise Daugherty Source London North GMS was added to ADCY5.
Hereditary ataxia with onset in adulthood v1.13 ABHD12 Louise Daugherty Source London North GMS was added to ABHD12.
Hereditary ataxia with onset in adulthood v1.13 AARS Louise Daugherty Source London North GMS was added to AARS.
Hereditary ataxia with onset in adulthood v1.12 NOP56 Louise Daugherty Source NHS GMS was added to NOP56.
Hereditary ataxia with onset in adulthood v1.12 ATXN8 Louise Daugherty Source NHS GMS was added to ATXN8.
Hereditary ataxia with onset in adulthood v1.12 ARMC9 Louise Daugherty Source NHS GMS was added to ARMC9.
Hereditary ataxia with onset in adulthood v1.11 ZFYVE26 James Polke reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 XRCC1 James Polke reviewed gene: XRCC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 VPS13D James Polke reviewed gene: VPS13D: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 VAMP1 James Polke reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 TWNK James Polke reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 TUBB4A James Polke reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 TTPA James Polke reviewed gene: TTPA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 TTC19 James Polke reviewed gene: TTC19: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 TTBK2 James Polke reviewed gene: TTBK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 TPP1 James Polke reviewed gene: TPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 TMEM240 James Polke reviewed gene: TMEM240: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 TINF2 James Polke reviewed gene: TINF2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 TGM6 James Polke reviewed gene: TGM6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 SYNE1 James Polke reviewed gene: SYNE1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 STUB1 James Polke reviewed gene: STUB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 SPTBN2 James Polke reviewed gene: SPTBN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 SPG7 James Polke reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 SNX14 James Polke reviewed gene: SNX14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 SMPD4 James Polke reviewed gene: SMPD4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 SLC9A1 James Polke reviewed gene: SLC9A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 SLC25A46 James Polke reviewed gene: SLC25A46: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 SETX James Polke reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 SAR1B James Polke reviewed gene: SAR1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 SAMD9L James Polke reviewed gene: SAMD9L: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 SACS James Polke reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 RORA James Polke reviewed gene: RORA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 RNF216 James Polke reviewed gene: RNF216: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 RNF170 James Polke reviewed gene: RNF170: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 PUM1 James Polke reviewed gene: PUM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 PRRT2 James Polke reviewed gene: PRRT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 PRNP James Polke reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 PRKCG James Polke reviewed gene: PRKCG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 POLG2 James Polke reviewed gene: POLG2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 POLG James Polke reviewed gene: POLG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 PNPLA6 James Polke reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 PLA2G6 James Polke reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 PIK3R5 James Polke reviewed gene: PIK3R5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 PDYN James Polke reviewed gene: PDYN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 PAX2 James Polke reviewed gene: PAX2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 OPA3 James Polke reviewed gene: OPA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 NPC2 James Polke reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 NPC1 James Polke reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 NOP56 James Polke reviewed gene: NOP56: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 NHLRC1 James Polke reviewed gene: NHLRC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 NAGLU James Polke reviewed gene: NAGLU: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 MSTO1 James Polke reviewed gene: MSTO1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 MRE11 James Polke reviewed gene: MRE11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 MORC2 James Polke reviewed gene: MORC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 MME James Polke reviewed gene: MME: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 MFN2 James Polke reviewed gene: MFN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 MARS2 James Polke reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 KCNK18 James Polke reviewed gene: KCNK18: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 KCND3 James Polke reviewed gene: KCND3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 KCNC3 James Polke reviewed gene: KCNC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 ITPR1 James Polke reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 IRF2BPL James Polke reviewed gene: IRF2BPL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 HTT James Polke reviewed gene: HTT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 HEXB James Polke reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 HEXA James Polke reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 GRM1 James Polke reviewed gene: GRM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 GJC2 James Polke reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 GFAP James Polke reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 GDAP2 James Polke reviewed gene: GDAP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 GBA2 James Polke reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 FXN James Polke reviewed gene: FXN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 FMR1 James Polke reviewed gene: FMR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 FGF14 James Polke reviewed gene: FGF14: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 EPM2A James Polke reviewed gene: EPM2A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 ELOVL5 James Polke reviewed gene: ELOVL5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 ELOVL4 James Polke reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 EIF2B5 James Polke reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 EIF2B4 James Polke reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 EIF2B3 James Polke reviewed gene: EIF2B3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 EIF2B2 James Polke reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 EIF2B1 James Polke reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 DNMT1 James Polke reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 DNAJC5 James Polke reviewed gene: DNAJC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 DARS2 James Polke reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 DAB1 James Polke reviewed gene: DAB1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 CYP27A1 James Polke reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 CSTB James Polke reviewed gene: CSTB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 CP James Polke reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 COA7 James Polke reviewed gene: COA7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 CLN6 James Polke reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 CLCN2 James Polke reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 CCDC88C James Polke reviewed gene: CCDC88C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 CAPN1 James Polke reviewed gene: CAPN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 CACNB4 James Polke reviewed gene: CACNB4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 CACNA1G James Polke reviewed gene: CACNA1G: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 CACNA1A James Polke reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 BEAN1 James Polke reviewed gene: BEAN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 ATXN8 James Polke reviewed gene: ATXN8: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 ATP7B James Polke reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 ATP2B3 James Polke reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 ATP1A3 James Polke reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 ATP1A2 James Polke reviewed gene: ATP1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 ATCAY James Polke reviewed gene: ATCAY: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 ARSA James Polke reviewed gene: ARSA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 ARMC9 James Polke reviewed gene: ARMC9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 ANO10 James Polke reviewed gene: ANO10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 AFG3L2 James Polke reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 ADPRHL2 James Polke reviewed gene: ADPRHL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 ADCY5 James Polke reviewed gene: ADCY5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 ABHD12 James Polke reviewed gene: ABHD12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.11 AARS James Polke reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Hereditary ataxia with onset in adulthood v1.10 NOP56 Louise Daugherty Source Expert Review Green was added to NOP56.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary ataxia with onset in adulthood v1.10 ATXN8 Louise Daugherty Source Expert Review Green was added to ATXN8.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Hereditary ataxia with onset in adulthood v1.10 ARMC9 Louise Daugherty gene: ARMC9 was added
gene: ARMC9 was added to Hereditary ataxia - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ARMC9 was set to
Adult onset hereditary spastic paraplegia v0.43 PGAP1 Louise Daugherty Mode of inheritance for gene: PGAP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.42 ZFYVE27 Louise Daugherty reviewed gene: ZFYVE27: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.42 ZEB2 Louise Daugherty reviewed gene: ZEB2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.42 WDR48 Louise Daugherty reviewed gene: WDR48: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.42 VPS37A Louise Daugherty commented on gene: VPS37A: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.42 VAMP1 Louise Daugherty commented on gene: VAMP1: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.42 USP8 Louise Daugherty reviewed gene: USP8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.42 TFG Louise Daugherty commented on gene: TFG: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.42 TECPR2 Louise Daugherty commented on gene: TECPR2: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.42 SLC33A1 Louise Daugherty commented on gene: SLC33A1: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.42 REEP2 Louise Daugherty commented on gene: REEP2: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.42 RAB3GAP2 Louise Daugherty reviewed gene: RAB3GAP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.42 PSEN1 Louise Daugherty commented on gene: PSEN1: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.42 PGAP1 Louise Daugherty reviewed gene: PGAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.42 PCDH12 Louise Daugherty reviewed gene: PCDH12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.42 NT5C2 Louise Daugherty commented on gene: NT5C2: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.42 MTPAP Louise Daugherty commented on gene: MTPAP: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.42 MARS2 Louise Daugherty commented on gene: MARS2: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.42 MARS Louise Daugherty reviewed gene: MARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.42 MAG Louise Daugherty commented on gene: MAG: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.42 LYST Louise Daugherty commented on gene: LYST: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.42 KLC4 Louise Daugherty reviewed gene: KLC4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.42 KIF1C Louise Daugherty commented on gene: KIF1C: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.42 KDM5C Louise Daugherty commented on gene: KDM5C: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.42 IBA57 Louise Daugherty commented on gene: IBA57: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.42 GJC2 Louise Daugherty commented on gene: GJC2: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.42 GCH1 Louise Daugherty commented on gene: GCH1: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.42 GAD1 Louise Daugherty reviewed gene: GAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.42 ERLIN1 Louise Daugherty commented on gene: ERLIN1: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.42 ENTPD1 Louise Daugherty reviewed gene: ENTPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.42 DSTYK Louise Daugherty commented on gene: DSTYK: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.42 DARS Louise Daugherty commented on gene: DARS: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.42 CCT5 Louise Daugherty reviewed gene: CCT5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.42 ATP13A2 Louise Daugherty commented on gene: ATP13A2: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.42 ARSI Louise Daugherty reviewed gene: ARSI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.42 ARL6IP1 Louise Daugherty reviewed gene: ARL6IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.42 AP5Z1 Louise Daugherty commented on gene: AP5Z1: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.42 AMPD2 Louise Daugherty commented on gene: AMPD2: Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.41 UCHL1 Louise Daugherty Mode of inheritance for gene: UCHL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.40 MARS2 Louise Daugherty Mode of inheritance for gene: MARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.39 MTPAP Louise Daugherty Mode of inheritance for gene: MTPAP was changed from to BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.38 NT5C2 Louise Daugherty Mode of inheritance for gene: NT5C2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.37 SLC33A1 Louise Daugherty Mode of inheritance for gene: SLC33A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset hereditary spastic paraplegia v0.36 TFG Louise Daugherty Mode of inheritance for gene: TFG was changed from to BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.35 VAMP1 Louise Daugherty Mode of inheritance for gene: VAMP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset hereditary spastic paraplegia v0.34 VPS37A Louise Daugherty Mode of inheritance for gene: VPS37A was changed from to BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.33 ARL6IP1 Louise Daugherty Mode of inheritance for gene: ARL6IP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.32 KIF1C Louise Daugherty Mode of inheritance for gene: KIF1C was changed from to BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.31 GJC2 Louise Daugherty Mode of inheritance for gene: GJC2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.30 ZFYVE27 Louise Daugherty Added phenotypes Spastic paraplegia 33, autosomal dominant for gene: ZFYVE27
Publications for gene ZFYVE27 were changed from to Mannan AU (2006)
Adult onset hereditary spastic paraplegia v0.30 WDR48 Louise Daugherty Publications for gene WDR48 were changed from to Novarino et al. (2014)
Adult onset hereditary spastic paraplegia v0.30 VPS37A Louise Daugherty Added phenotypes Spastic paraplegia 53, autosomal recessive for gene: VPS37A
Publications for gene VPS37A were changed from to Zivony-Elboum et al. (2012)
Adult onset hereditary spastic paraplegia v0.30 VAMP1 Louise Daugherty Added phenotypes Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1
Publications for gene VAMP1 were changed from to 22958904
Adult onset hereditary spastic paraplegia v0.30 USP8 Louise Daugherty Publications for gene USP8 were changed from to Novarino et al. (2014)
Adult onset hereditary spastic paraplegia v0.30 TFG Louise Daugherty Publications for gene TFG were changed from to Beetz (2013) 23479643
Adult onset hereditary spastic paraplegia v0.30 TECPR2 Louise Daugherty Added phenotypes Spastic paraplegia 49, autosomal recessive, 615031 for gene: TECPR2
Publications for gene TECPR2 were changed from to 23176824; 26542466
Adult onset hereditary spastic paraplegia v0.30 SLC33A1 Louise Daugherty Added phenotypes Spastic paraplegia 42, autosomal dominant for gene: SLC33A1
Publications for gene SLC33A1 were changed from to Lin et al. (2008)
Adult onset hereditary spastic paraplegia v0.30 REEP2 Louise Daugherty Added phenotypes ?Spastic paraplegia 72, autosomal dominant,615625; ?Spastic paraplegia 72, autosomal recessive, 615625 for gene: REEP2
Publications for gene REEP2 were changed from to 24388663
Adult onset hereditary spastic paraplegia v0.30 RAB3GAP2 Louise Daugherty Added phenotypes spastic paraplegia; Warburg micro syndrome 2, 614225 for gene: RAB3GAP2
Publications for gene RAB3GAP2 were changed from to 24482476
Adult onset hereditary spastic paraplegia v0.30 PSEN1 Louise Daugherty Added phenotypes Alzheimer disease, type 3, with spastic paraparesis and apraxia; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques for gene: PSEN1
Adult onset hereditary spastic paraplegia v0.30 PGAP1 Louise Daugherty Publications for gene PGAP1 were changed from to Novarino et al. (2014)
Adult onset hereditary spastic paraplegia v0.30 PCDH12 Louise Daugherty Added phenotypes microcephaly; midbrain abnormalities; perithalamic hyperechogenicity; intellectual disability; epilepsy; periventricular hyperechogenicity; hypothalamic abnormalities for gene: PCDH12
Publications for gene PCDH12 were changed from to 27164683
Adult onset hereditary spastic paraplegia v0.30 NT5C2 Louise Daugherty Added phenotypes Spasticparaplegia45, autosomal recessive, 613162 for gene: NT5C2
Publications for gene NT5C2 were changed from to 28327087; 28884889; 24482476; 29123918
Adult onset hereditary spastic paraplegia v0.30 MTPAP Louise Daugherty Added phenotypes Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive for gene: MTPAP
Adult onset hereditary spastic paraplegia v0.30 MARS2 Louise Daugherty Added phenotypes Spastic ataxia 3, autosomal recessive for gene: MARS2
Publications for gene MARS2 were changed from to Bayat (2012), 22448145
Adult onset hereditary spastic paraplegia v0.30 MARS Louise Daugherty Publications for gene MARS were changed from to Novarino et al. (2014)
Adult onset hereditary spastic paraplegia v0.30 MAG Louise Daugherty Added phenotypes Spastic paraplegia 75, autosomal recessive, 616680 for gene: MAG
Publications for gene MAG were changed from to 26179919; 24482476
Adult onset hereditary spastic paraplegia v0.30 LYST Louise Daugherty Added phenotypes spastic paraplegia; Chediak-Higashi syndrome, 214500 for gene: LYST
Publications for gene LYST were changed from to 24521565; 26307451; 25519961; 25519960
Adult onset hereditary spastic paraplegia v0.30 KLC4 Louise Daugherty Added phenotypes spastic paraplegia; progressive complicated spastic paraplegia for gene: KLC4
Publications for gene KLC4 were changed from to 26423925
Adult onset hereditary spastic paraplegia v0.30 KIF1C Louise Daugherty Added phenotypes Spastic ataxia 2, autosomal recessive for gene: KIF1C
Publications for gene KIF1C were changed from to 24482476; 24319291; 17273843
Adult onset hereditary spastic paraplegia v0.30 KDM5C Louise Daugherty Added phenotypes Intellectual disability; developmental delay; epilepsy; progressive spasticity; Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; hypothyroidism for gene: KDM5C
Publications for gene KDM5C were changed from to 10982473; 26919706; 15586325
Adult onset hereditary spastic paraplegia v0.30 IBA57 Louise Daugherty Added phenotypes ?Spastic paraplegia 74, autosomal recessive, 616451 for gene: IBA57
Publications for gene IBA57 were changed from to 30258207; 25609768
Adult onset hereditary spastic paraplegia v0.30 GJC2 Louise Daugherty Added phenotypes Spastic paraplegia 44, autosomal recessive for gene: GJC2
Publications for gene GJC2 were changed from to Orthmann-Murphy et al. (2009)
Adult onset hereditary spastic paraplegia v0.30 GCH1 Louise Daugherty Added phenotypes Dystonia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; progressive spastic paraplegia; Spastic paraplegia for gene: GCH1
Publications for gene GCH1 were changed from to 24509643; 21935284
Adult onset hereditary spastic paraplegia v0.30 GAD1 Louise Daugherty Added phenotypes Cerebralpalsy,spasticquadriplegic,1, 603513 for gene: GAD1
Adult onset hereditary spastic paraplegia v0.30 ERLIN1 Louise Daugherty Added phenotypes Hereditary spastic paraplegia; Spastic paraplegia 62, 615681 for gene: ERLIN1
Publications for gene ERLIN1 were changed from to 24482476
Adult onset hereditary spastic paraplegia v0.30 ENTPD1 Louise Daugherty Added phenotypes Spasticparaplegia64,615683 for gene: ENTPD1
Publications for gene ENTPD1 were changed from to Novarino et al. (2014)
Adult onset hereditary spastic paraplegia v0.30 DSTYK Louise Daugherty Added phenotypes Spastic paraplegia 23, 270750 for gene: DSTYK
Publications for gene DSTYK were changed from to 28157540
Adult onset hereditary spastic paraplegia v0.30 DARS Louise Daugherty Added phenotypes leg spasticity; Brain stem and spinal cord Hypomyelination; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS
Publications for gene DARS were changed from to 23643384; 25527264
Adult onset hereditary spastic paraplegia v0.30 CCT5 Louise Daugherty Added phenotypes Sensory Neuropathy with Spastic Paraplegia; Neuropathy, hereditary sensory, with spastic paraplegia for gene: CCT5
Adult onset hereditary spastic paraplegia v0.30 ATP13A2 Louise Daugherty Added phenotypes Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia for gene: ATP13A2
Publications for gene ATP13A2 were changed from to 28137957; 27217339
Adult onset hereditary spastic paraplegia v0.30 ARSI Louise Daugherty Publications for gene ARSI were changed from to Novarino et al. (2014)
Adult onset hereditary spastic paraplegia v0.30 ARL6IP1 Louise Daugherty Publications for gene ARL6IP1 were changed from to 24482476; 28471035
Adult onset hereditary spastic paraplegia v0.30 AP5Z1 Louise Daugherty Added phenotypes Spastic Paraplegia, Recessive; Spastic paraplegia 48, autosomal recessive for gene: AP5Z1
Publications for gene AP5Z1 were changed from to 27606357
Adult onset hereditary spastic paraplegia v0.30 AMPD2 Louise Daugherty Added phenotypes Hereditary Spastic Paraplegia?; Pontocerebellar hypolplasia (biallelic) for gene: AMPD2
Publications for gene AMPD2 were changed from to Novarino et al. (2014)
Adult onset hereditary spastic paraplegia v0.29 ZFYVE27 Chris Buxton reviewed gene: ZFYVE27: Rating: RED; Mode of pathogenicity: ; Publications: Mannan AU (2006); Phenotypes: Spastic paraplegia 33, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset hereditary spastic paraplegia v0.29 ZEB2 Chris Buxton reviewed gene: ZEB2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.29 WDR48 Chris Buxton reviewed gene: WDR48: Rating: AMBER; Mode of pathogenicity: ; Publications: Novarino et al. (2014); Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.29 VPS37A Chris Buxton reviewed gene: VPS37A: Rating: RED; Mode of pathogenicity: ; Publications: Zivony-Elboum et al. (2012); Phenotypes: Spastic paraplegia 53, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.29 VAMP1 Chris Buxton reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: ; Publications: 22958904; Phenotypes: Spastic ataxia 1, autosomal dominant, 108600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset hereditary spastic paraplegia v0.29 USP8 Chris Buxton reviewed gene: USP8: Rating: RED; Mode of pathogenicity: ; Publications: Novarino et al. (2014); Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.29 TFG Chris Buxton reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: ; Publications: Beetz (2013) 23479643; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.29 TECPR2 Chris Buxton reviewed gene: TECPR2: Rating: AMBER; Mode of pathogenicity: ; Publications: 23176824, 26542466; Phenotypes: Spastic paraplegia 49, autosomal recessive, 615031; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.29 SLC33A1 Chris Buxton reviewed gene: SLC33A1: Rating: RED; Mode of pathogenicity: ; Publications: Lin et al. (2008); Phenotypes: Spastic paraplegia 42, autosomal dominant; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset hereditary spastic paraplegia v0.29 REEP2 Chris Buxton reviewed gene: REEP2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24388663; 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 hereditary spastic paraplegia v0.29 RAB3GAP2 Chris Buxton reviewed gene: RAB3GAP2: Rating: RED; Mode of pathogenicity: ; Publications: 24482476; Phenotypes: spastic paraplegia, Warburg micro syndrome 2, 614225; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset hereditary spastic paraplegia v0.29 PSEN1 Chris Buxton reviewed gene: PSEN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Alzheimer disease, type 3, with spastic paraparesis and apraxia, Alzheimer disease, type 3, with spastic paraparesis and unusual plaques; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.29 PGAP1 Chris Buxton reviewed gene: PGAP1: Rating: RED; Mode of pathogenicity: ; Publications: Novarino et al. (2014); Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.29 PCDH12 Chris Buxton reviewed gene: PCDH12: Rating: RED; Mode of pathogenicity: ; Publications: 27164683; Phenotypes: intellectual disability, microcephaly, epilepsy, perithalamic hyperechogenicity, periventricular hyperechogenicity, midbrain abnormalities, hypothalamic abnormalities; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.29 NT5C2 Chris Buxton reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24482476, 28884889, 28327087, 29123918; Phenotypes: Spasticparaplegia45, autosomal recessive, 613162; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.29 MTPAP Chris Buxton reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, spastic, 4, Spastic ataxia 4, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.29 MARS2 Chris Buxton reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: Bayat (2012), 22448145; Phenotypes: Spastic ataxia 3, autosomal recessive ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.29 MARS Chris Buxton reviewed gene: MARS: Rating: RED; Mode of pathogenicity: ; Publications: Novarino et al. (2014); Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.29 MAG Chris Buxton reviewed gene: MAG: Rating: AMBER; Mode of pathogenicity: ; Publications: 24482476, 26179919; Phenotypes: Spastic paraplegia 75, autosomal recessive, 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.29 LYST Chris Buxton reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: 24521565, 26307451, 25519960, 25519961; Phenotypes: spastic paraplegia, Chediak-Higashi syndrome, 214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.29 KLC4 Chris Buxton reviewed gene: KLC4: Rating: RED; Mode of pathogenicity: ; Publications: 26423925; Phenotypes: spastic paraplegia, progressive complicated spastic paraplegia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset hereditary spastic paraplegia v0.29 KIF1C Chris Buxton reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: ; Publications: 24482476, 24319291, 24482476, 17273843; Phenotypes: Spastic ataxia 2, autosomal recessive ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.29 KDM5C Chris Buxton reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: ; Publications: 10982473, 15586325, 26919706; 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 hereditary spastic paraplegia v0.29 IBA57 Chris Buxton reviewed gene: IBA57: Rating: RED; Mode of pathogenicity: ; Publications: 25609768, 30258207; Phenotypes: ?Spastic paraplegia 74, autosomal recessive, 616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.29 GJC2 Chris Buxton reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: Orthmann-Murphy et al. (2009); Phenotypes: Spastic paraplegia 44, autosomal recessive ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.29 GCH1 Chris Buxton reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24509643, 21935284; Phenotypes: Dystonia, Spastic paraplegia, progressive spastic paraplegia, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset hereditary spastic paraplegia v0.29 GAD1 Chris Buxton reviewed gene: GAD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Cerebralpalsy,spasticquadriplegic,1, 603513; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.29 ERLIN1 Chris Buxton reviewed gene: ERLIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: 24482476; Phenotypes: Hereditary spastic paraplegia, Spastic paraplegia 62, 615681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.29 ENTPD1 Chris Buxton reviewed gene: ENTPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: Novarino et al. (2014); Phenotypes: Spasticparaplegia64,615683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.29 DSTYK Chris Buxton reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: ; Publications: 28157540; Phenotypes: Spastic paraplegia 23, 270750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.29 DARS Chris Buxton reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: ; Publications: 23643384, 25527264; 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 hereditary spastic paraplegia v0.29 CCT5 Chris Buxton 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 hereditary spastic paraplegia v0.29 ATP13A2 Chris Buxton reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: 28137957, 27217339; Phenotypes: Adult-onset lower-limb predominant spastic paraparesis, Spastic paraplegia 78, autosomal recessive, 617225, complicated hereditary spastic paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.29 ARSI Chris Buxton reviewed gene: ARSI: Rating: RED; Mode of pathogenicity: ; Publications: Novarino et al. (2014); Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.29 ARL6IP1 Chris Buxton reviewed gene: ARL6IP1: Rating: GREEN; Mode of pathogenicity: ; Publications: 28471035, 24482476; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.29 AP5Z1 Chris Buxton reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: ; Publications: 27606357; Phenotypes: Spastic Paraplegia, Recessive , Spastic paraplegia 48, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.29 AMPD2 Chris Buxton reviewed gene: AMPD2: Rating: RED; Mode of pathogenicity: ; Publications: Novarino et al. (2014); Phenotypes: Pontocerebellar hypolplasia (biallelic), Hereditary Spastic Paraplegia?; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.28 ZFYVE27 Louise Daugherty gene: ZFYVE27 was added
gene: ZFYVE27 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: ZFYVE27 was set to
Adult onset hereditary spastic paraplegia v0.28 ZEB2 Louise Daugherty gene: ZEB2 was added
gene: ZEB2 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: ZEB2 was set to
Adult onset hereditary spastic paraplegia v0.28 WDR48 Louise Daugherty gene: WDR48 was added
gene: WDR48 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: WDR48 was set to
Adult onset hereditary spastic paraplegia v0.28 VPS37A Louise Daugherty Source South West GLH was added to VPS37A.
Adult onset hereditary spastic paraplegia v0.28 VAMP1 Louise Daugherty Source South West GLH was added to VAMP1.
Adult onset hereditary spastic paraplegia v0.28 USP8 Louise Daugherty gene: USP8 was added
gene: USP8 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: USP8 was set to
Adult onset hereditary spastic paraplegia v0.28 TFG Louise Daugherty Source South West GLH was added to TFG.
Adult onset hereditary spastic paraplegia v0.28 TECPR2 Louise Daugherty Source South West GLH was added to TECPR2.
Adult onset hereditary spastic paraplegia v0.28 SLC33A1 Louise Daugherty Source South West GLH was added to SLC33A1.
Adult onset hereditary spastic paraplegia v0.28 REEP2 Louise Daugherty Source South West GLH was added to REEP2.
Adult onset hereditary spastic paraplegia v0.28 RAB3GAP2 Louise Daugherty gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: RAB3GAP2 was set to
Adult onset hereditary spastic paraplegia v0.28 PSEN1 Louise Daugherty Source South West GLH was added to PSEN1.
Adult onset hereditary spastic paraplegia v0.28 PGAP1 Louise Daugherty gene: PGAP1 was added
gene: PGAP1 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: PGAP1 was set to
Adult onset hereditary spastic paraplegia v0.28 PCDH12 Louise Daugherty gene: PCDH12 was added
gene: PCDH12 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: PCDH12 was set to
Adult onset hereditary spastic paraplegia v0.28 NT5C2 Louise Daugherty Source South West GLH was added to NT5C2.
Adult onset hereditary spastic paraplegia v0.28 MTPAP Louise Daugherty Source South West GLH was added to MTPAP.
Adult onset hereditary spastic paraplegia v0.28 MARS2 Louise Daugherty Source South West GLH was added to MARS2.
Adult onset hereditary spastic paraplegia v0.28 MARS Louise Daugherty gene: MARS was added
gene: MARS was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: MARS was set to
Adult onset hereditary spastic paraplegia v0.28 MAG Louise Daugherty Source South West GLH was added to MAG.
Adult onset hereditary spastic paraplegia v0.28 LYST Louise Daugherty Source South West GLH was added to LYST.
Adult onset hereditary spastic paraplegia v0.28 KLC4 Louise Daugherty gene: KLC4 was added
gene: KLC4 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: KLC4 was set to
Adult onset hereditary spastic paraplegia v0.28 KIF1C Louise Daugherty Source South West GLH was added to KIF1C.
Adult onset hereditary spastic paraplegia v0.28 KDM5C Louise Daugherty Source South West GLH was added to KDM5C.
Adult onset hereditary spastic paraplegia v0.28 IBA57 Louise Daugherty Source South West GLH was added to IBA57.
Adult onset hereditary spastic paraplegia v0.28 GJC2 Louise Daugherty Source South West GLH was added to GJC2.
Adult onset hereditary spastic paraplegia v0.28 GCH1 Louise Daugherty Source South West GLH was added to GCH1.
Adult onset hereditary spastic paraplegia v0.28 GAD1 Louise Daugherty gene: GAD1 was added
gene: GAD1 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: GAD1 was set to
Adult onset hereditary spastic paraplegia v0.28 ERLIN1 Louise Daugherty Source South West GLH was added to ERLIN1.
Adult onset hereditary spastic paraplegia v0.28 ENTPD1 Louise Daugherty gene: ENTPD1 was added
gene: ENTPD1 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: ENTPD1 was set to
Adult onset hereditary spastic paraplegia v0.28 DSTYK Louise Daugherty Source South West GLH was added to DSTYK.
Adult onset hereditary spastic paraplegia v0.28 DARS Louise Daugherty Source South West GLH was added to DARS.
Adult onset hereditary spastic paraplegia v0.28 CCT5 Louise Daugherty gene: CCT5 was added
gene: CCT5 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: CCT5 was set to
Adult onset hereditary spastic paraplegia v0.28 ATP13A2 Louise Daugherty Source South West GLH was added to ATP13A2.
Adult onset hereditary spastic paraplegia v0.28 ARSI Louise Daugherty gene: ARSI was added
gene: ARSI was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: ARSI was set to
Adult onset hereditary spastic paraplegia v0.28 ARL6IP1 Louise Daugherty gene: ARL6IP1 was added
gene: ARL6IP1 was added to Hereditary spastic paraplegia - adult onset. Sources: South West GLH
Mode of inheritance for gene: ARL6IP1 was set to
Adult onset hereditary spastic paraplegia v0.28 AP5Z1 Louise Daugherty Source South West GLH was added to AP5Z1.
Adult onset hereditary spastic paraplegia v0.28 AMPD2 Louise Daugherty Source South West GLH was added to AMPD2.
Fetal anomalies v0.219 PTEN Rebecca Foulger commented on gene: PTEN: In original PAGE file (and in DD-G2P), mode of inheritance is 'Monoallelic' for MACROCEPHALY/AUTISM SYNDROME; BANNAYAN-ZONANA SYNDROME; COWDEN DISEASE; VACTERL ASSOCIATION WITH HYDROCEPHALUS; LHERMITTE-DUCLOS DISEASE. Mode of inheritance in original PAGE file (and in DD-G2P) is mosaic for PROTEUS SYNDROME.
Fetal anomalies v0.219 MYH6 Rebecca Foulger commented on gene: MYH6: In original PAGE file, mode of inheritance is 'Monoallelic' for all three disorders (ATRIAL SEPTAL DEFECT TYPE 3; CARDIOMYOPATHY DILATED TYPE 1EE; CARDIOMYOPATHY FAMILIAL HYPERTROPHIC TYPE 14).
Adult onset hereditary spastic paraplegia v0.27 GCH1 Louise Daugherty commented on gene: GCH1: Review and rating submitted by Michael Bonello (The Walton Centre NHS Foundation Trust), submitted by Diane Cairns on behalf of North West GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.27 GCH1 Louise Daugherty Source North West GLH was added to GCH1.
Mode of inheritance for gene GCH1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.26 GCH1 Michael Bonello reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.25 PPP2R2B_CAG Louise Daugherty edited their review of STR: PPP2R2B_CAG: Added comment: Amber rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.; Changed rating: AMBER
Adult onset hereditary spastic paraplegia v0.25 HTT_CAG Louise Daugherty commented on STR: HTT_CAG: Green rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. Comment: str (Variants in this STR are reported as part of current diagnostic practice)
Adult onset hereditary spastic paraplegia v0.25 FXN_GAA Louise Daugherty edited their review of STR: FXN_GAA: Added comment: Amber rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. Comment str (Variants in this STR are reported as part of current diagnostic practice); Changed rating: AMBER
Adult onset hereditary spastic paraplegia v0.25 CACNA1A_CAG Louise Daugherty commented on STR: CACNA1A_CAG: Green rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.25 ATXN7_CAG Louise Daugherty commented on STR: ATXN7_CAG: Green rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.25 ATXN3_CAG Louise Daugherty edited their review of STR: ATXN3_CAG: Added comment: Amber rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. Comment: str. Diagnostic utility in question due to the expansion size > 60 CAGs; Changed rating: AMBER
Adult onset hereditary spastic paraplegia v0.25 ATXN2_CAG Louise Daugherty commented on STR: ATXN2_CAG: Green rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Adult onset hereditary spastic paraplegia v0.25 ATXN10_ATTCT Louise Daugherty edited their review of STR: ATXN10_ATTCT: Added comment: Amber rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group. Comment: str. I'm not convinved NGS (illumina) has diagnostic utility to call an expansion > 800ATTCT repeats?; Changed rating: AMBER
Adult onset hereditary spastic paraplegia v0.25 ATXN1_CAG Louise Daugherty edited their review of STR: ATXN1_CAG: Added comment: Amber rating and review from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.; Changed rating: AMBER
Adult onset hereditary spastic paraplegia v0.25 ATXN1_CAG Louise Daugherty Source NHS GMS was added to STR: ATXN1_CAG.
Adult onset hereditary spastic paraplegia v0.25 TBP_CAG Louise Daugherty Source NHS GMS was added to STR: TBP_CAG.
Adult onset hereditary spastic paraplegia v0.25 PPP2R2B_CAG Louise Daugherty Source NHS GMS was added to STR: PPP2R2B_CAG.
Adult onset hereditary spastic paraplegia v0.25 HTT_CAG Louise Daugherty Source NHS GMS was added to STR: HTT_CAG.
Adult onset hereditary spastic paraplegia v0.25 FXN_GAA Louise Daugherty Source NHS GMS was added to STR: FXN_GAA.
Adult onset hereditary spastic paraplegia v0.25 CACNA1A_CAG Louise Daugherty Source NHS GMS was added to STR: CACNA1A_CAG.
Adult onset hereditary spastic paraplegia v0.25 ATXN7_CAG Louise Daugherty Source NHS GMS was added to STR: ATXN7_CAG.
Adult onset hereditary spastic paraplegia v0.25 ATXN3_CAG Louise Daugherty Source NHS GMS was added to STR: ATXN3_CAG.
Adult onset hereditary spastic paraplegia v0.25 ATXN2_CAG Louise Daugherty Source NHS GMS was added to STR: ATXN2_CAG.
Adult onset hereditary spastic paraplegia v0.25 ATXN10_ATTCT Louise Daugherty Source NHS GMS was added to STR: ATXN10_ATTCT.
Adult onset hereditary spastic paraplegia v0.24 ATXN1_CAG Louise Daugherty Source South West GLH was added to STR: ATXN1_CAG.
Adult onset hereditary spastic paraplegia v0.24 TBP_CAG Louise Daugherty Source South West GLH was added to STR: TBP_CAG.
Adult onset hereditary spastic paraplegia v0.24 PPP2R2B_CAG Louise Daugherty Source South West GLH was added to STR: PPP2R2B_CAG.
Adult onset hereditary spastic paraplegia v0.24 HTT_CAG Louise Daugherty Source South West GLH was added to STR: HTT_CAG.
Adult onset hereditary spastic paraplegia v0.24 FXN_GAA Louise Daugherty Source South West GLH was added to STR: FXN_GAA.
Adult onset hereditary spastic paraplegia v0.24 CACNA1A_CAG Louise Daugherty Source South West GLH was added to STR: CACNA1A_CAG.
Adult onset hereditary spastic paraplegia v0.24 ATXN7_CAG Louise Daugherty Source South West GLH was added to STR: ATXN7_CAG.
Adult onset hereditary spastic paraplegia v0.24 ATXN3_CAG Louise Daugherty Source South West GLH was added to STR: ATXN3_CAG.
Adult onset hereditary spastic paraplegia v0.24 ATXN2_CAG Louise Daugherty Source South West GLH was added to STR: ATXN2_CAG.
Adult onset hereditary spastic paraplegia v0.24 ATXN10_ATTCT Louise Daugherty Source South West GLH was added to STR: ATXN10_ATTCT.
Adult onset hereditary spastic paraplegia v0.23 ATXN1_CAG Louise Daugherty Source London North GLH was added to STR: ATXN1_CAG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.23 TBP_CAG Louise Daugherty Source London North GLH was added to STR: TBP_CAG.
Adult onset hereditary spastic paraplegia v0.23 PPP2R2B_CAG Louise Daugherty Source London North GLH was added to STR: PPP2R2B_CAG.
Adult onset hereditary spastic paraplegia v0.23 HTT_CAG Louise Daugherty Source London North GLH was added to STR: HTT_CAG.
Adult onset hereditary spastic paraplegia v0.23 FXN_GAA Louise Daugherty Source London North GLH was added to STR: FXN_GAA.
Adult onset hereditary spastic paraplegia v0.23 CACNA1A_CAG Louise Daugherty Source London North GLH was added to STR: CACNA1A_CAG.
Adult onset hereditary spastic paraplegia v0.23 ATXN7_CAG Louise Daugherty Source London North GLH was added to STR: ATXN7_CAG.
Adult onset hereditary spastic paraplegia v0.23 ATXN3_CAG Louise Daugherty Source London North GLH was added to STR: ATXN3_CAG.
Adult onset hereditary spastic paraplegia v0.23 ATXN2_CAG Louise Daugherty Source London North GLH was added to STR: ATXN2_CAG.
Adult onset hereditary spastic paraplegia v0.23 ATXN10_ATTCT Louise Daugherty Source London North GLH was added to STR: ATXN10_ATTCT.
Adult onset hereditary spastic paraplegia v0.22 TBP_CAG Louise Daugherty Source Expert Review Green was added to STR: TBP_CAG.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.22 PPP2R2B_CAG Louise Daugherty Source Expert Review Green was added to STR: PPP2R2B_CAG.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.22 HTT_CAG Louise Daugherty Source Expert Review Green was added to STR: HTT_CAG.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.22 FXN_GAA Louise Daugherty Source Expert Review Green was added to STR: FXN_GAA.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.22 CACNA1A_CAG Louise Daugherty Source Expert Review Green was added to STR: CACNA1A_CAG.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.22 ATXN7_CAG Louise Daugherty Source Expert Review Green was added to STR: ATXN7_CAG.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.22 ATXN3_CAG Louise Daugherty Source Expert Review Green was added to STR: ATXN3_CAG.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.22 ATXN2_CAG Louise Daugherty Source Expert Review Green was added to STR: ATXN2_CAG.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.21 TBP_CAG Louise Daugherty STR: TBP_CAG was added
STR: TBP_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list
STR tags were added to STR: TBP_CAG.
Mode of inheritance for STR: TBP_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: TBP_CAG were set to Spinocerebellar ataxia 17 607136
Review for STR: TBP_CAG was set to GREEN
Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Sources: Expert list
Adult onset hereditary spastic paraplegia v0.20 PPP2R2B_CAG Louise Daugherty STR: PPP2R2B_CAG was added
STR: PPP2R2B_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list
STR tags were added to STR: PPP2R2B_CAG.
Mode of inheritance for STR: PPP2R2B_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: PPP2R2B_CAG were set to Spinocerebellar ataxia 12 604326
Review for STR: PPP2R2B_CAG was set to GREEN
Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Sources: Expert list
Adult onset hereditary spastic paraplegia v0.19 HTT_CAG Louise Daugherty STR: HTT_CAG was added
STR: HTT_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list
STR tags were added to STR: HTT_CAG.
Mode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: HTT_CAG were set to Huntington disease 143100
Review for STR: HTT_CAG was set to GREEN
Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Sources: Expert list
Adult onset hereditary spastic paraplegia v0.18 FXN_GAA Louise Daugherty STR: FXN_GAA was added
STR: FXN_GAA was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list
STR tags were added to STR: FXN_GAA.
Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for STR: FXN_GAA were set to Friedreich ataxia 229300
Review for STR: FXN_GAA was set to GREEN
Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Sources: Expert list
Adult onset hereditary spastic paraplegia v0.17 CACNA1A_CAG Louise Daugherty STR: CACNA1A_CAG was added
STR: CACNA1A_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list
STR tags were added to STR: CACNA1A_CAG.
Mode of inheritance for STR: CACNA1A_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: CACNA1A_CAG were set to Spinocerebellar ataxia 6 183086
Review for STR: CACNA1A_CAG was set to GREEN
Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Sources: Expert list
Adult onset hereditary spastic paraplegia v0.16 ATXN7_CAG Louise Daugherty STR: ATXN7_CAG was added
STR: ATXN7_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list
STR tags were added to STR: ATXN7_CAG.
Mode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN7_CAG were set to Spinocerebellar ataxia 7 164500
Review for STR: ATXN7_CAG was set to GREEN
Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Sources: Expert list
Adult onset hereditary spastic paraplegia v0.15 ATXN3_CAG Louise Daugherty STR: ATXN3_CAG was added
STR: ATXN3_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list
STR tags were added to STR: ATXN3_CAG.
Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN3_CAG were set to Machado-Joseph disease 109150
Review for STR: ATXN3_CAG was set to GREEN
Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Sources: Expert list
Adult onset hereditary spastic paraplegia v0.14 ATXN2_CAG Louise Daugherty STR: ATXN2_CAG was added
STR: ATXN2_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list
STR tags were added to STR: ATXN2_CAG.
Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN2_CAG were set to Spinocerebellar ataxia 2 183090
Review for STR: ATXN2_CAG was set to GREEN
Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Sources: Expert list
Adult onset hereditary spastic paraplegia v0.13 ATXN10_ATTCT Louise Daugherty Source Expert Review Green was added to STR: ATXN10_ATTCT.
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.12 ATXN10_ATTCT Louise Daugherty STR: ATXN10_ATTCT was added
STR: ATXN10_ATTCT was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list
STR tags were added to STR: ATXN10_ATTCT.
Mode of inheritance for STR: ATXN10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN10_ATTCT were set to Spinocerebellar ataxia 10 603516
Review for STR: ATXN10_ATTCT was set to GREEN
Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Sources: Expert list
Adult onset hereditary spastic paraplegia v0.11 ATXN1_CAG Louise Daugherty Classified STR: ATXN1_CAG as Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.11 ATXN1_CAG Louise Daugherty Str: atxn1_cag has been classified as Green List (High Evidence).
Adult onset hereditary spastic paraplegia v0.10 ATXN1_CAG Louise Daugherty STR: ATXN1_CAG was added
STR: ATXN1_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list
STR tags were added to STR: ATXN1_CAG.
Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN1_CAG were set to Spinocerebellar ataxia 1 164400
Review for STR: ATXN1_CAG was set to GREEN
Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group
Sources: Expert list
Adult onset hereditary spastic paraplegia v0.9 Louise Daugherty removed STR:ATN1_CAG from the panel
Adult onset hereditary spastic paraplegia v0.8 ATN1_CAG Louise Daugherty Classified STR: ATN1_CAG as Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.8 ATN1_CAG Louise Daugherty Str: atn1_cag has been classified as Green List (High Evidence).
Adult onset hereditary spastic paraplegia v0.7 ATN1_CAG Louise Daugherty STR: ATN1_CAG was added
STR: ATN1_CAG was added to Hereditary spastic paraplegia - adult onset. Sources: Expert list
STR tags were added to STR: ATN1_CAG.
Mode of inheritance for STR: ATN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: ATN1_CAG were set to 20301664; 8136840; 20301664; 8136840; 8136826; 7614090
Phenotypes for STR: ATN1_CAG were set to Dentatorubro-pallidoluysian atrophy 125370
Review for STR: ATN1_CAG was set to GREEN
Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.
Sources: Expert list
Intellectual disability v2.800 POLA1 Konstantinos Varvagiannis reviewed gene: POLA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31006512; Phenotypes: Global developmental delay, Intellectual disability, Microcephaly, Growth abnormality, Hypogonadism; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes
Mitochondrial disorders v1.224 MIPEP Sarah Leigh Classified gene: MIPEP as Green List (high evidence)
Mitochondrial disorders v1.224 MIPEP Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 6 variants reported in at least 4 cases.
Mitochondrial disorders v1.224 MIPEP Sarah Leigh Gene: mipep has been classified as Green List (High Evidence).
Mitochondrial disorders v1.223 MIPEP Sarah Leigh gene: MIPEP was added
gene: MIPEP was added to Mitochondrial disorders. Sources: Expert list
Mode of inheritance for gene: MIPEP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MIPEP were set to 27799064
Phenotypes for gene: MIPEP were set to Combined oxidative phosphorylation deficiency 31, 617228
Review for gene: MIPEP was set to GREEN
Added comment: From an initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Sources: Expert list
Mitochondrial disorders v1.222 TUFM Sarah Leigh Classified gene: TUFM as Green List (high evidence)
Mitochondrial disorders v1.222 TUFM Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as probable Gen2Phen gene. At least four variants reported in at least four unrelated cases.
Mitochondrial disorders v1.222 TUFM Sarah Leigh Gene: tufm has been classified as Green List (High Evidence).
Mitochondrial disorders v1.221 TRMT5 Sarah Leigh Classified gene: TRMT5 as Green List (high evidence)
Mitochondrial disorders v1.221 TRMT5 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 variants reported in at least three cases, together with supportive functional studies.
Mitochondrial disorders v1.221 TRMT5 Sarah Leigh Gene: trmt5 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.220 TUFM Sarah Leigh Phenotypes for gene: TUFM were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 4, 610678 to Combined oxidative phosphorylation deficiency 4 610678
Mitochondrial disorders v1.219 TUFM Sarah Leigh Publications for gene: TUFM were set to
Haematological malignancies cancer susceptibility v1.17 Ellen McDonagh Panel types changed to Cancer Germline 100K; GMS Cancer Germline Virtual
Adult solid tumours cancer susceptibility v1.3 Ellen McDonagh Panel types changed to Cancer Germline 100K; GMS Cancer Germline Virtual
Childhood solid tumours cancer susceptibility v1.3 Ellen McDonagh Panel types changed to Cancer Germline 100K; GMS Cancer Germline Virtual
Sarcoma cancer susceptibility v1.13 Ellen McDonagh Panel types changed to Cancer Germline 100K; GMS Cancer Germline Virtual
Fetal anomalies v0.219 H3F3A Rebecca Foulger Classified gene: H3F3A as Red List (low evidence)
Fetal anomalies v0.219 H3F3A Rebecca Foulger Gene: h3f3a has been classified as Red List (Low Evidence).
Fetal anomalies v0.218 H3F3A Rebecca Foulger commented on gene: H3F3A: H3F3A was added to the Fetal anomalies panel as Amber based on a 'probable' Disease confidence rating in the original PAGE file and DD-G2P. At the time of panel review, H3F3A is no longer associated with a disorder in DD-Gene2Phenotype (April 2019). No OMIM disorder is associated with H3F3A and there are no publications supporting an obvious gene:disorder association. Therefore demoted H3F3A from Amber to Red.
Mitochondrial disorders v1.218 TRMT5 Sarah Leigh Phenotypes for gene: TRMT5 were changed from Multiple Respiratory-Chain Deficiencies to Combined oxidative phosphorylation deficiency 26 616539
Mitochondrial disorders v1.217 TRMT5 Sarah Leigh Publications for gene: TRMT5 were set to PMID: 26189817
Mitochondrial disorders v1.216 TRIT1 Sarah Leigh Classified gene: TRIT1 as Green List (high evidence)
Mitochondrial disorders v1.216 TRIT1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as possible Gen2Phen gene. At least 6 variants reported in at least 6 unrelated cases.
Mitochondrial disorders v1.216 TRIT1 Sarah Leigh Gene: trit1 has been classified as Green List (High Evidence).
Fetal anomalies v0.218 MYT1 Rebecca Foulger commented on gene: MYT1: Berenguer et al 2017 (PMID:28612832) identified a third (de novo) MYT1 variant in a patient with OAVS: c.323C>T p.Ser108Leu from a cohort of 57 new patients with a typically heterogeneous OAVS. From functional studies, it's still unclear how these variants impact retinoic acid signaling and contribute to the phenotype.
Fetal anomalies v0.218 MYT1 Rebecca Foulger commented on gene: MYT1: Lopez et al 2016 (PMID:27358179) identified a heterozgous MYT1 de novo nonsense variant in one patient (c.25C>T, p.Arg9*) and one heterozygous inherited missense variant in second patient (c.314C>T, p.Ser105Leu) in a cohort of 169patients with OAVS. Functional studies by transient knockdown of myt1a in zebrafish, led to specific craniofacial cartilage alterations.
Fetal anomalies v0.218 MYT1 Rebecca Foulger commented on gene: MYT1: 2 papers linking MYT1 to OAVS: PMID:28612832 and PMID:27358179. Oculo-auriculo-vertebral spectrum (OAVS) is a developmental disorder characterized by hemifacial microsomia associated with ear, eyes and vertebrae malformations showing highly variable expressivity (PMID:28612832).
Mitochondrial disorders v1.215 TRIT1 Sarah Leigh Mode of inheritance for gene: TRIT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.214 TRIT1 Sarah Leigh Publications for gene: TRIT1 were set to
Mitochondrial disorders v1.213 TRIT1 Sarah Leigh Phenotypes for gene: TRIT1 were changed from No OMIM phenotype; Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Combined oxidative phosphorylation deficiency 35 617873
Mitochondrial disorders v1.212 TIMM50 Sarah Leigh Classified gene: TIMM50 as Green List (high evidence)
Mitochondrial disorders v1.212 TIMM50 Sarah Leigh Added comment: Comment on list classification: Based on the review of Zornitza Stark (Australian Genomics) regarding the level of evidence.
Mitochondrial disorders v1.212 TIMM50 Sarah Leigh Gene: timm50 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.211 SLC25A42 Sarah Leigh Classified gene: SLC25A42 as Green List (high evidence)
Mitochondrial disorders v1.211 SLC25A42 Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. However, a founder variant has been reported in Arab populations (rs864321624), together with supportive functional studies. A rare additional variant has also been reported as a compound heterozygous with the founder variant.
Mitochondrial disorders v1.211 SLC25A42 Sarah Leigh Gene: slc25a42 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.210 SLC25A42 Sarah Leigh Phenotypes for gene: SLC25A42 were changed from to mitochondrial myopathy
Mitochondrial disorders v1.209 SLC25A42 Sarah Leigh Publications for gene: SLC25A42 were set to 29923093; 29327420; 26541337
Mitochondrial disorders v1.208 SLC25A42 Sarah Leigh Mode of inheritance for gene: SLC25A42 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.207 SLC25A42 Sarah Leigh Publications for gene: SLC25A42 were set to
Mitochondrial disorders v1.206 SLC25A42 Sarah Leigh Mode of inheritance for gene: SLC25A42 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.205 SLC25A42 Sarah Leigh Tag founder-effect tag was added to gene: SLC25A42.
Mitochondrial disorders v1.205 SLC25A12 Sarah Leigh Classified gene: SLC25A12 as Green List (high evidence)
Mitochondrial disorders v1.205 SLC25A12 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 3 biallelic variants reported in unrelated cases.
Mitochondrial disorders v1.205 SLC25A12 Sarah Leigh Gene: slc25a12 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.204 SLC25A12 Sarah Leigh Phenotypes for gene: SLC25A12 were changed from Hypomyelination, global cerebral, 612949 to Epileptic encephalopathy, early infantile, 39 612949
Mitochondrial disorders v1.203 SLC25A12 Sarah Leigh Publications for gene: SLC25A12 were set to
Mitochondrial disorders v1.202 SLC25A12 Sarah Leigh Mode of inheritance for gene: SLC25A12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.201 SLC25A1 Sarah Leigh Classified gene: SLC25A1 as Green List (high evidence)
Mitochondrial disorders v1.201 SLC25A1 Sarah Leigh Added comment: Comment on list classification: Associated with phenotype in OMIM and not in Gen2Phen. At least 6 variants identified in at least 4 unrelated cases.
Mitochondrial disorders v1.201 SLC25A1 Sarah Leigh Gene: slc25a1 has been classified as Green List (High Evidence).
Adult onset hereditary spastic paraplegia v0.6 ZFYVE26 Louise Daugherty reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 WDR45B Louise Daugherty reviewed gene: WDR45B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 WASHC5 Louise Daugherty reviewed gene: WASHC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 VPS37A Louise Daugherty reviewed gene: VPS37A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 VAMP1 Louise Daugherty reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 UCHL1 Louise Daugherty reviewed gene: UCHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 TUBB4A Louise Daugherty reviewed gene: TUBB4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 TFG Louise Daugherty reviewed gene: TFG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 TECPR2 Louise Daugherty reviewed gene: TECPR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 SPG7 Louise Daugherty reviewed gene: SPG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 SPG21 Louise Daugherty reviewed gene: SPG21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 SPG11 Louise Daugherty reviewed gene: SPG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 SPAST Louise Daugherty reviewed gene: SPAST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 SPART Louise Daugherty reviewed gene: SPART: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 SLC33A1 Louise Daugherty reviewed gene: SLC33A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 SLC25A46 Louise Daugherty reviewed gene: SLC25A46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 SLC1A4 Louise Daugherty reviewed gene: SLC1A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 SLC16A2 Louise Daugherty reviewed gene: SLC16A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 SERAC1 Louise Daugherty reviewed gene: SERAC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 SACS Louise Daugherty reviewed gene: SACS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 RTN2 Louise Daugherty reviewed gene: RTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 REEP2 Louise Daugherty reviewed gene: REEP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 REEP1 Louise Daugherty reviewed gene: REEP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 PSEN1 Louise Daugherty reviewed gene: PSEN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 POLR3A Louise Daugherty reviewed gene: POLR3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 PNPLA6 Louise Daugherty reviewed gene: PNPLA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 PLP1 Louise Daugherty reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 OPA3 Louise Daugherty reviewed gene: OPA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 NT5C2 Louise Daugherty reviewed gene: NT5C2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 NKX6-2 Louise Daugherty reviewed gene: NKX6-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 NIPA1 Louise Daugherty reviewed gene: NIPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 MTPAP Louise Daugherty reviewed gene: MTPAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 MARS2 Louise Daugherty reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 MAG Louise Daugherty reviewed gene: MAG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 LYST Louise Daugherty reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 L1CAM Louise Daugherty reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 KIF5A Louise Daugherty reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 KIF1C Louise Daugherty reviewed gene: KIF1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 KIF1A Louise Daugherty reviewed gene: KIF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 KIDINS220 Louise Daugherty reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 KDM5C Louise Daugherty reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 KCNA2 Louise Daugherty reviewed gene: KCNA2: Rating: AMBER; Mode of pathogenicity: ; Publications: 5129488; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 IBA57 Louise Daugherty reviewed gene: IBA57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 HSPD1 Louise Daugherty reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 HACE1 Louise Daugherty reviewed gene: HACE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 GJC2 Louise Daugherty reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 GCH1 Louise Daugherty reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 GBA2 Louise Daugherty reviewed gene: GBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 FARS2 Louise Daugherty reviewed gene: FARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 FA2H Louise Daugherty reviewed gene: FA2H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 ERLIN2 Louise Daugherty reviewed gene: ERLIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 ERLIN1 Louise Daugherty reviewed gene: ERLIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 DSTYK Louise Daugherty reviewed gene: DSTYK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 DDHD2 Louise Daugherty reviewed gene: DDHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 DDHD1 Louise Daugherty reviewed gene: DDHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 DARS Louise Daugherty reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 CYP7B1 Louise Daugherty reviewed gene: CYP7B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 CYP2U1 Louise Daugherty reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 CYP27A1 Louise Daugherty reviewed gene: CYP27A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 CPT1C Louise Daugherty reviewed gene: CPT1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 CDK16 Louise Daugherty reviewed gene: CDK16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 CAPN1 Louise Daugherty reviewed gene: CAPN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 C19orf12 Louise Daugherty reviewed gene: C19orf12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 C12orf65 Louise Daugherty reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 BSCL2 Louise Daugherty reviewed gene: BSCL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 B4GALNT1 Louise Daugherty reviewed gene: B4GALNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 ATP13A2 Louise Daugherty reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 ATL1 Louise Daugherty reviewed gene: ATL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 ARG1 Louise Daugherty reviewed gene: ARG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 AP5Z1 Louise Daugherty reviewed gene: AP5Z1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 AP4S1 Louise Daugherty reviewed gene: AP4S1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 AP4M1 Louise Daugherty reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 AP4E1 Louise Daugherty reviewed gene: AP4E1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 AP4B1 Louise Daugherty reviewed gene: AP4B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 AMPD2 Louise Daugherty reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 ALS2 Louise Daugherty reviewed gene: ALS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 ALDH18A1 Louise Daugherty reviewed gene: ALDH18A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 AIMP1 Louise Daugherty reviewed gene: AIMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 AFG3L2 Louise Daugherty reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 ADAR Louise Daugherty reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.6 ABCD1 Louise Daugherty reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Mitochondrial disorders v1.200 SLC25A1 Sarah Leigh Publications for gene: SLC25A1 were set to
Adult onset hereditary spastic paraplegia v0.5 ZFYVE26 James Polke reviewed gene: ZFYVE26: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 15, autosomal recessive, 270700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 WDR45B James Polke reviewed gene: WDR45B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. Omim-Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 WASHC5 James Polke reviewed gene: WASHC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 8, autosomal dominant, 603563; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset hereditary spastic paraplegia v0.5 VPS37A James Polke reviewed gene: VPS37A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 53, autosomal recessive, 614898, AR ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.5 VAMP1 James Polke reviewed gene: VAMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 1, autosomal dominant, 108600 ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.5 UCHL1 James Polke reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 79, autosomal recessive, 615491, AR; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.5 TUBB4A James Polke reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia 4, torsion, autosomal dominant, 128101, Leukodystrophy, hypomyelinating, 612438 AD, ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset hereditary spastic paraplegia v0.5 TFG James Polke reviewed gene: TFG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 57, autosomal recessive 615658,AR, Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.5 TECPR2 James Polke reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 49, autosomal recessive,615031, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 SPG7 James Polke reviewed gene: SPG7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 7, autosomal recessive, 607259; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 SPG21 James Polke reviewed gene: SPG21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic Paraplegia, autosomal recessive, Mast syndrome, 248900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 SPG11 James Polke reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 11, autosomal recessive, 604360, Amyotrophic lateral sclerosis 5, juvenile, 602099, AR, Charcot-Marie-Tooth disease, axonal, type 2X, 616668, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 SPAST James Polke reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 4, autosomal dominant, 182601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset hereditary spastic paraplegia v0.5 SPART James Polke reviewed gene: SPART: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 20, autosomal recessive, Troyer syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 SLC33A1 James Polke reviewed gene: SLC33A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.5 SLC25A46 James Polke 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 hereditary spastic paraplegia v0.5 SLC1A4 James Polke reviewed gene: SLC1A4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 SLC16A2 James Polke reviewed gene: SLC16A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Allan-Herndon-Dudley syndrome, 300523, XL; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset hereditary spastic paraplegia v0.5 SERAC1 James Polke reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, Autosomal dominant, 614739, MEGDEL syndrome, 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome, MEGDHEL syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 SACS James Polke reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type, 270550 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 RTN2 James Polke reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 12, autosomal dominant, 604805 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset hereditary spastic paraplegia v0.5 REEP2 James Polke reviewed gene: REEP2: Rating: GREEN; 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 hereditary spastic paraplegia v0.5 REEP1 James Polke reviewed gene: REEP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 31, autosomal dominant, 610250 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset hereditary spastic paraplegia v0.5 PSEN1 James Polke reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Alzheimer disease, type 3, with spastic paraparesis, apraxia and unusual plaques; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset hereditary spastic paraplegia v0.5 POLR3A James Polke reviewed gene: POLR3A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Autosomal Recessive Ataxia, Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 PNPLA6 James Polke reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 39, autosomal recessive, 612020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 PLP1 James Polke reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 2, X-linked recessive, 312920; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset hereditary spastic paraplegia v0.5 OPA3 James Polke reviewed gene: OPA3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: 3-methylglutaconic aciduria, type III, 258501, Costeff syndrome, Optic atrophy 3 with cataract, 165300, AD; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 NT5C2 James Polke reviewed gene: NT5C2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 45, autosomal recessive, 613162, AR ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.5 NKX6-2 James Polke reviewed gene: NKX6-2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 NIPA1 James Polke reviewed gene: NIPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spasticparaplegia 6,autosomal dominant, pseudoautosomal, NOT imprinted, 600363; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset hereditary spastic paraplegia v0.5 MTPAP James Polke reviewed gene: MTPAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic ataxia 4, autosomal recessive, 613672 ; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.5 MARS2 James Polke reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 3, autosomal recessive, 611390; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.5 MAG James Polke reviewed gene: MAG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 75, autosomal recessive, 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 LYST James Polke reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, Chediak-Higashi syndrome, 214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 L1CAM James Polke reviewed gene: L1CAM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: X-linked hydrocephalus, 307000, MASA syndrome, 303350, Hereditary spastic paraplegia, 308840; Mode of inheritance: X-LINKED recessive: hemizygous mutation in males, biallelic mutations in females
Adult onset hereditary spastic paraplegia v0.5 KIF5A James Polke reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 10, autosomal dominant or pseudoautosomal, NOT imprinted, 604187; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset hereditary spastic paraplegia v0.5 KIF1C James Polke reviewed gene: KIF1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 2, autosomal recessive, 611302; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.5 KIF1A James Polke reviewed gene: KIF1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 30, autosomal recessive, 610357, Mental retardation, autosomal dominant 9, 614255, AD, Neuropathy, hereditary sensory, type IIC, 614213, AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 KIDINS220 James Polke reviewed gene: KIDINS220: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset hereditary spastic paraplegia v0.5 KDM5C James Polke reviewed gene: KDM5C: Rating: GREEN; 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 hereditary spastic paraplegia v0.5 KCNA2 James Polke reviewed gene: KCNA2: Rating: GREEN; Mode of pathogenicity: ; Publications: 5129488; Phenotypes: Hereditary spastic paraplegia and ataxia; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.5 IBA57 James Polke reviewed gene: IBA57: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 74, autosomal recessive, 616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 HSPD1 James Polke reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 13, autosomal dominant or pseudoautosomal, NOT imprinted, 605280, Leukodystrophy, hypomyelinating, 4, autosomal recessive, 612233; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset hereditary spastic paraplegia v0.5 HACE1 James Polke reviewed gene: HACE1: Rating: GREEN; 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 hereditary spastic paraplegia v0.5 GJC2 James Polke reviewed gene: GJC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 2, 608804, AR, Spastic paraplegia 44, autosomal recessive 613206, AR, Lymphatic malformation 3, 613480, AD; Mode of inheritance:
Adult onset hereditary spastic paraplegia v0.5 GCH1 James Polke reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Spastic paraplegia, progressive spastic paraplegia, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset hereditary spastic paraplegia v0.5 GBA2 James Polke reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 46, autosomal recessive, 614409; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 FARS2 James Polke reviewed gene: FARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 77, autosomal recessive, 617046; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 FA2H James Polke reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 35, autosomal recessive, 611026; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 ERLIN2 James Polke reviewed gene: ERLIN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 18, autosomal recessive, 611225, Spastic paraplegia, autosomal dominant, hereditary spastic paraplegia, neurodegeneration.; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 ERLIN1 James Polke reviewed gene: ERLIN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, Spastic paraplegia 62, 615681; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 DSTYK James Polke reviewed gene: DSTYK: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital anomalies of kidney and urinary tract 1, 610805, AD, Spastic paraplegia 23, 270750, AR; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset hereditary spastic paraplegia v0.5 DDHD2 James Polke reviewed gene: DDHD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 54, autosomal recessive, 615033 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 DDHD1 James Polke reviewed gene: DDHD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 28, autosomal recessive, 609340; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 DARS James Polke reviewed gene: DARS: Rating: GREEN; 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 hereditary spastic paraplegia v0.5 CYP7B1 James Polke reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 5A, autosomal recessive, 270800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 CYP2U1 James Polke reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 56, autosomal recessive, 615030; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 CYP27A1 James Polke 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
Adult onset hereditary spastic paraplegia v0.5 CPT1C James Polke reviewed gene: CPT1C: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 73, autosomal dominant, 616282; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset hereditary spastic paraplegia v0.5 CDK16 James Polke reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Intellectual disability and spastic paraplegia, x-linked; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset hereditary spastic paraplegia v0.5 CAPN1 James Polke reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 76 autosomal recessive, 616907; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 C19orf12 James Polke reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 43, autosomal recessive, 615043, Neurodegeneration with brain iron accumulation 4, 614298; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 C12orf65 James Polke reviewed gene: C12orf65: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 55, autosomal recessive, 615035, optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy, Combined oxidative phosphorylation deficiency 7, 613559; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 BSCL2 James Polke reviewed gene: BSCL2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Silver spastic paraplegia syndrome, 270685; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset hereditary spastic paraplegia v0.5 B4GALNT1 James Polke reviewed gene: B4GALNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 26, autosomal recessive, 609195 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 ATP13A2 James Polke reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Adult-onset lower-limb predominant spastic paraparesis, Spastic paraplegia 78, autosomal recessive, 617225, complicated hereditary spastic paraplegia, Kufor-Rakeb syndrome, 606693 AR; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 ATL1 James Polke reviewed gene: ATL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 3A, 182600 autosomal dominant, Spastic Paraplegia, Dominant, Neuropathy, hereditary sensory, type ID, 613708 ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset hereditary spastic paraplegia v0.5 ARG1 James Polke reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Argininaemia, 207800, Progressive spastic tetraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 AP5Z1 James Polke reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 48, autosomal recessive, 613647; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 AP4S1 James Polke reviewed gene: AP4S1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 52, autosomal recessive, 614067, developmental delay, seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 AP4M1 James Polke reviewed gene: AP4M1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 50, autosomal recessive, 612936; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 AP4E1 James Polke reviewed gene: AP4E1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 51, autosomal recessive, 613744; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 AP4B1 James Polke reviewed gene: AP4B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 47, autosomal recessive, 614066 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 AMPD2 James Polke reviewed gene: AMPD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 63, 615686, AR, Pontocerebellar hypoplasia, type 9, 615809, AR ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 ALS2 James Polke reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paralysis, infantile onset ascending,autosomal recessive, 607225, Primary lateral sclerosis, juvenile, autosomal recessive, 606353, Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 ALDH18A1 James Polke reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 9A, autosomal dominant 601162, Spastic paraplegia 9B, autosomal recessive 616586, Cutis laxa, autosomal dominant 3 616603, Cutis laxa, autosomal recessive, type IIIA 219150, ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT, SPG9; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 AIMP1 James Polke reviewed gene: AIMP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 AFG3L2 James Polke reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Ataxia, spastic, 5, autosomal recessive, Spastic ataxia 5, autosomal recessive, Spinocerebellar ataxia 28, autosomal dominant, 610246; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 ADAR James Polke reviewed gene: ADAR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Aicardi-Goutieres syndrome 6, 615010 autosomal recessive, Dyschromatosis symmetrica hereditaria, autosomal dominant, 127400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.5 ABCD1 James Polke reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Hereditary spastic paraplegia, adrenal failure, VLCFA accumulation, spastic paraparesis, Adrenoleukodystrophy, 300100; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Mitochondrial disorders v1.199 SLC25A1 Sarah Leigh Mode of inheritance for gene: SLC25A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Adult onset hereditary spastic paraplegia v0.4 ZFYVE26 Louise Daugherty Source Expert Review Green was added to ZFYVE26.
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
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 WDR45B Louise Daugherty Source Expert Review Green was added to WDR45B.
Mode of inheritance for gene WDR45B was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations. Omim-Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, 617977 for gene: WDR45B
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 WASHC5 Louise Daugherty Source Expert Review Green was added to WASHC5.
Mode of inheritance for gene WASHC5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spastic paraplegia 8, autosomal dominant, 603563 for gene: WASHC5
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 VPS37A Louise Daugherty Source Expert Review Green was added to VPS37A.
Added phenotypes Spastic paraplegia 53, autosomal recessive, 614898, AR for gene: VPS37A
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 VAMP1 Louise Daugherty Source Expert Review Green was added to VAMP1.
Added phenotypes Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 UCHL1 Louise Daugherty Source Expert Review Green was added to UCHL1.
Added phenotypes Spastic paraplegia 79, autosomal recessive, 615491, AR for gene: UCHL1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 TUBB4A Louise Daugherty Source Expert Review Green was added to TUBB4A.
Mode of inheritance for gene TUBB4A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Dystonia 4, torsion, autosomal dominant, 128101; ataxia; Leukodystrophy, hypomyelinating, 612438 AD for gene: TUBB4A
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 TFG Louise Daugherty Source Expert Review Green was added to TFG.
Added phenotypes Hereditary motor and sensory neuropathy, Okinawa type, 604484, AD; ?Spastic paraplegia 57, autosomal recessive 615658,AR for gene: TFG
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 TECPR2 Louise Daugherty Source Expert Review Green was added to TECPR2.
Mode of inheritance for gene TECPR2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 49, autosomal recessive,615031, AR for gene: TECPR2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 SPG7 Louise Daugherty Source Expert Review Green was added to SPG7.
Mode of inheritance for gene SPG7 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 7, autosomal recessive, 607259 for gene: SPG7
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 SPG21 Louise Daugherty Source Expert Review Green was added to SPG21.
Mode of inheritance for gene SPG21 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Mast syndrome, 248900; Spastic Paraplegia, autosomal recessive for gene: SPG21
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 SPG11 Louise Daugherty Source Expert Review Green was added to SPG11.
Mode of inheritance for gene SPG11 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 11, autosomal recessive, 604360; Charcot-Marie-Tooth disease, axonal, type 2X, 616668, AR; Amyotrophic lateral sclerosis 5, juvenile, 602099, AR for gene: SPG11
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 SPAST Louise Daugherty Source Expert Review Green was added to SPAST.
Mode of inheritance for gene SPAST was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spastic paraplegia 4, autosomal dominant, 182601 for gene: SPAST
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 SPART Louise Daugherty Source Expert Review Green was added to SPART.
Mode of inheritance for gene SPART was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Troyer syndrome; Spastic paraplegia 20, autosomal recessive for gene: SPART
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 SLC33A1 Louise Daugherty Source Expert Review Green was added to SLC33A1.
Added phenotypes Congenital cataracts, hearing loss, and neurodegeneration 614482, AR:Spastic paraplegia 42, autosomal dominant, 612539 AD for gene: SLC33A1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 SLC25A46 Louise Daugherty Source Expert Review Red was added to SLC25A46.
Mode of inheritance for gene SLC25A46 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Neuropathy, hereditary motor and sensory, type VIB, 616505 for gene: SLC25A46
Adult onset hereditary spastic paraplegia v0.4 SLC1A4 Louise Daugherty Source Expert Review Green was added to SLC1A4.
Mode of inheritance for gene SLC1A4 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 for gene: SLC1A4
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 SLC16A2 Louise Daugherty Source Expert Review Green was added to SLC16A2.
Mode of inheritance for gene SLC16A2 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Allan-Herndon-Dudley syndrome, 300523, XL for gene: SLC16A2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 SERAC1 Louise Daugherty Source Expert Review Green was added to SERAC1.
Mode of inheritance for gene SERAC1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes MEGDHEL syndrome; MEGDEL syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, Autosomal dominant, 614739; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome for gene: SERAC1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 SACS Louise Daugherty Source Expert Review Green was added to SACS.
Mode of inheritance for gene SACS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic ataxia, Charlevoix-Saguenay type, 270550 for gene: SACS
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 RTN2 Louise Daugherty Source Expert Review Green was added to RTN2.
Mode of inheritance for gene RTN2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spastic paraplegia 12, autosomal dominant, 604805 for gene: RTN2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 REEP2 Louise Daugherty Source Expert Review Green was added to REEP2.
Mode of inheritance for gene REEP2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes ?Spastic paraplegia 72, autosomal dominant, 615625; ?Spastic paraplegia 72, autosomal recessive, 615625 for gene: REEP2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 REEP1 Louise Daugherty Source Expert Review Green was added to REEP1.
Mode of inheritance for gene REEP1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spastic paraplegia 31, autosomal dominant, 610250 for gene: REEP1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 PSEN1 Louise Daugherty Source Expert Review Green was added to PSEN1.
Mode of inheritance for gene PSEN1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Alzheimer disease, type 3, with spastic paraparesis, apraxia and unusual plaques for gene: PSEN1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 POLR3A Louise Daugherty Source Expert Review Red was added to POLR3A.
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; Autosomal Recessive Ataxia for gene: POLR3A
Adult onset hereditary spastic paraplegia v0.4 PNPLA6 Louise Daugherty Source Expert Review Green was added to PNPLA6.
Mode of inheritance for gene PNPLA6 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 39, autosomal recessive, 612020 for gene: PNPLA6
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 PLP1 Louise Daugherty Source Expert Review Green was added to PLP1.
Mode of inheritance for gene PLP1 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Spastic paraplegia 2, X-linked recessive, 312920 for gene: PLP1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 OPA3 Louise Daugherty Source Expert Review Green was added to OPA3.
Mode of inheritance for gene OPA3 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes 3-methylglutaconic aciduria, type III, 258501; Costeff syndrome, Optic atrophy 3 with cataract, 165300, AD for gene: OPA3
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 NT5C2 Louise Daugherty Source Expert Review Green was added to NT5C2.
Added phenotypes Spastic paraplegia 45, autosomal recessive, 613162, AR for gene: NT5C2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 NKX6-2 Louise Daugherty Source Expert Review Green was added to NKX6-2.
Mode of inheritance for gene NKX6-2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 for gene: NKX6-2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 NIPA1 Louise Daugherty Source Expert Review Green was added to NIPA1.
Mode of inheritance for gene NIPA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spasticparaplegia 6,autosomal dominant, pseudoautosomal, NOT imprinted, 600363 for gene: NIPA1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 MTPAP Louise Daugherty Source Expert Review Green was added to MTPAP.
Added phenotypes ?Spastic ataxia 4, autosomal recessive, 613672 for gene: MTPAP
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 MARS2 Louise Daugherty Source Expert Review Green was added to MARS2.
Added phenotypes Spastic ataxia 3, autosomal recessive, 611390 for gene: MARS2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 MAG Louise Daugherty Source Expert Review Green was added to MAG.
Mode of inheritance for gene MAG was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 75, autosomal recessive, 616680 for gene: MAG
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 LYST Louise Daugherty Source Expert Review Green was added to LYST.
Mode of inheritance for gene LYST was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Chediak-Higashi syndrome, 214500; Spastic paraplegia for gene: LYST
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 L1CAM Louise Daugherty Source Expert Review Green was added to L1CAM.
Mode of inheritance for gene L1CAM was changed from to X-LINKED recessive: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Hereditary spastic paraplegia, 308840; MASA syndrome, 303350; X-linked hydrocephalus, 307000 for gene: L1CAM
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 KIF5A Louise Daugherty Source Expert Review Green was added to KIF5A.
Mode of inheritance for gene KIF5A was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spastic paraplegia 10, autosomal dominant or pseudoautosomal, NOT imprinted, 604187 for gene: KIF5A
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 KIF1C Louise Daugherty Source Expert Review Green was added to KIF1C.
Added phenotypes Spastic ataxia 2, autosomal recessive, 611302 for gene: KIF1C
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 KIF1A Louise Daugherty Source Expert Review Green was added to KIF1A.
Mode of inheritance for gene KIF1A was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 30, autosomal recessive, 610357; Neuropathy, hereditary sensory, type IIC, 614213, AR; Mental retardation, autosomal dominant 9, 614255, AD for gene: KIF1A
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 KIDINS220 Louise Daugherty Source Expert Review Green was added to KIDINS220.
Mode of inheritance for gene KIDINS220 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spastic paraplegia, intellectual disability, nystagmus, and obesity, autosomal dominant, 617296 for gene: KIDINS220
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 KDM5C Louise Daugherty Source Expert Review Green was added to KDM5C.
Mode of inheritance for gene KDM5C 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 Intellectual disability; developmental delay; epilepsy; progressive spasticity; Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; hypothyroidism for gene: KDM5C
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 KCNA2 Louise Daugherty Source Expert Review Green was added to KCNA2.
Added phenotypes Hereditary spastic paraplegia and ataxia for gene: KCNA2
Publications for gene KCNA2 were changed from to 5129488
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 IBA57 Louise Daugherty Source Expert Review Green was added to IBA57.
Mode of inheritance for gene IBA57 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Spastic paraplegia 74, autosomal recessive, 616451 for gene: IBA57
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 HSPD1 Louise Daugherty Source Expert Review Amber was added to HSPD1.
Mode of inheritance for gene HSPD1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Leukodystrophy, hypomyelinating, 4, autosomal recessive, 612233; Spastic paraplegia 13, autosomal dominant or pseudoautosomal, NOT imprinted, 605280 for gene: HSPD1
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Adult onset hereditary spastic paraplegia v0.4 HACE1 Louise Daugherty Source Expert Review Green was added to HACE1.
Mode of inheritance for gene HACE1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756; psychomotor retardation; Spastic paraplegia for gene: HACE1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 GJC2 Louise Daugherty Source Expert Review Green was added to GJC2.
Added phenotypes Spastic paraplegia 44, autosomal recessive 613206, AR; Lymphatic malformation 3, 613480, AD; Leukodystrophy, hypomyelinating, 2, 608804, AR for gene: GJC2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 GCH1 Louise Daugherty Source Expert Review Green was added to GCH1.
Mode of inheritance for gene GCH1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Dystonia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; progressive spastic paraplegia; Spastic paraplegia for gene: GCH1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 GBA2 Louise Daugherty Source Expert Review Green was added to GBA2.
Mode of inheritance for gene GBA2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 46, autosomal recessive, 614409 for gene: GBA2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 FARS2 Louise Daugherty Source Expert Review Green was added to FARS2.
Mode of inheritance for gene FARS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 77, autosomal recessive, 617046 for gene: FARS2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 FA2H Louise Daugherty Source Expert Review Green was added to FA2H.
Mode of inheritance for gene FA2H was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 35, autosomal recessive, 611026 for gene: FA2H
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 ERLIN2 Louise Daugherty Source Expert Review Green was added to ERLIN2.
Mode of inheritance for gene ERLIN2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia, autosomal dominant; neurodegeneration.; Spastic paraplegia 18, autosomal recessive, 611225; hereditary spastic paraplegia for gene: ERLIN2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 ERLIN1 Louise Daugherty Source Expert Review Green was added to ERLIN1.
Mode of inheritance for gene ERLIN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Hereditary spastic paraplegia; Spastic paraplegia 62, 615681 for gene: ERLIN1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 DSTYK Louise Daugherty Source Expert Review Green was added to DSTYK.
Mode of inheritance for gene DSTYK was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spastic paraplegia 23, 270750, AR; Congenital anomalies of kidney and urinary tract 1, 610805, AD for gene: DSTYK
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 DDHD2 Louise Daugherty Source Expert Review Green was added to DDHD2.
Mode of inheritance for gene DDHD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 54, autosomal recessive, 615033 for gene: DDHD2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 DDHD1 Louise Daugherty Source Expert Review Green was added to DDHD1.
Mode of inheritance for gene DDHD1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 28, autosomal recessive, 609340 for gene: DDHD1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 DARS Louise Daugherty Source Expert Review Green was added to DARS.
Mode of inheritance for gene DARS was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes leg spasticity; Brain stem and spinal cord Hypomyelination; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 for gene: DARS
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 CYP7B1 Louise Daugherty Source Expert Review Green was added to CYP7B1.
Mode of inheritance for gene CYP7B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 5A, autosomal recessive, 270800 for gene: CYP7B1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 CYP2U1 Louise Daugherty Source Expert Review Green was added to CYP2U1.
Mode of inheritance for gene CYP2U1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 56, autosomal recessive, 615030 for gene: CYP2U1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 CYP27A1 Louise Daugherty Source Expert Review Green was added to CYP27A1.
Mode of inheritance for gene CYP27A1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness for gene: CYP27A1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 CPT1C Louise Daugherty Source Expert Review Green was added to CPT1C.
Mode of inheritance for gene CPT1C was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes ?Spastic paraplegia 73, autosomal dominant, 616282 for gene: CPT1C
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 CDK16 Louise Daugherty Source Expert Review Red was added to CDK16.
Mode of inheritance for gene CDK16 was changed from to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added phenotypes Intellectual disability and spastic paraplegia, x-linked for gene: CDK16
Adult onset hereditary spastic paraplegia v0.4 CAPN1 Louise Daugherty Source Expert Review Green was added to CAPN1.
Mode of inheritance for gene CAPN1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 76 autosomal recessive, 616907 for gene: CAPN1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 C19orf12 Louise Daugherty Source Expert Review Green was added to C19orf12.
Mode of inheritance for gene C19orf12 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 43, autosomal recessive, 615043; Neurodegeneration with brain iron accumulation 4, 614298 for gene: C19orf12
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 C12orf65 Louise Daugherty Source Expert Review Green was added to C12orf65.
Mode of inheritance for gene C12orf65 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes optic atrophy and spasticity, tibial muscle weakness and atrophy, peripheral neuropathy; Combined oxidative phosphorylation deficiency 7, 613559; Spastic paraplegia 55, autosomal recessive, 615035 for gene: C12orf65
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 BSCL2 Louise Daugherty Source Expert Review Green was added to BSCL2.
Mode of inheritance for gene BSCL2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Silver spastic paraplegia syndrome, 270685 for gene: BSCL2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 B4GALNT1 Louise Daugherty Source Expert Review Green was added to B4GALNT1.
Mode of inheritance for gene B4GALNT1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 26, autosomal recessive, 609195 for gene: B4GALNT1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 ATP13A2 Louise Daugherty Source Expert Review Green was added to ATP13A2.
Mode of inheritance for gene ATP13A2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Kufor-Rakeb syndrome, 606693 AR; Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia for gene: ATP13A2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 ATL1 Louise Daugherty Source Expert Review Green was added to ATL1.
Mode of inheritance for gene ATL1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Spastic paraplegia 3A, 182600 autosomal dominant; Spastic Paraplegia, Dominant; Neuropathy, hereditary sensory, type ID, 613708 for gene: ATL1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 ARG1 Louise Daugherty Source Expert Review Green was added to ARG1.
Mode of inheritance for gene ARG1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Progressive spastic tetraplegia; Argininaemia, 207800 for gene: ARG1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 AP5Z1 Louise Daugherty Source Expert Review Green was added to AP5Z1.
Mode of inheritance for gene AP5Z1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 48, autosomal recessive, 613647 for gene: AP5Z1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 AP4S1 Louise Daugherty Source Expert Review Green was added to AP4S1.
Mode of inheritance for gene AP4S1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes seizures; developmental delay; Spastic paraplegia 52, autosomal recessive, 614067 for gene: AP4S1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 AP4M1 Louise Daugherty Source Expert Review Green was added to AP4M1.
Mode of inheritance for gene AP4M1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 50, autosomal recessive, 612936 for gene: AP4M1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 AP4E1 Louise Daugherty Source Expert Review Green was added to AP4E1.
Mode of inheritance for gene AP4E1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 51, autosomal recessive, 613744 for gene: AP4E1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 AP4B1 Louise Daugherty Source Expert Review Green was added to AP4B1.
Mode of inheritance for gene AP4B1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 47, autosomal recessive, 614066 for gene: AP4B1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 AMPD2 Louise Daugherty Source Expert Review Green was added to AMPD2.
Mode of inheritance for gene AMPD2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Spastic paraplegia 63, 615686, AR; Pontocerebellar hypoplasia, type 9, 615809, AR for gene: AMPD2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 ALS2 Louise Daugherty Source Expert Review Green was added to ALS2.
Mode of inheritance for gene ALS2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic paralysis, infantile onset ascending,autosomal recessive, 607225; Primary lateral sclerosis, juvenile, autosomal recessive, 606353; Amyotrophic lateral sclerosis 2, autosomal recessive, juvenile, 205100 for gene: ALS2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 ALDH18A1 Louise Daugherty Source Expert Review Green was added to ALDH18A1.
Mode of inheritance for gene ALDH18A1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Spastic paraplegia 9B, autosomal recessive 616586; SPG9; ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; Cutis laxa, autosomal dominant 3 616603; Spastic paraplegia 9A, autosomal dominant 601162; Cutis laxa, autosomal recessive, type IIIA 219150 for gene: ALDH18A1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 AIMP1 Louise Daugherty Source Expert Review Green was added to AIMP1.
Mode of inheritance for gene AIMP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Leukodystrophy, hypomyelinating, 3, autosomomal recessive, 260600 for gene: AIMP1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 AFG3L2 Louise Daugherty Source Expert Review Green was added to AFG3L2.
Mode of inheritance for gene AFG3L2 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Spastic ataxia 5, autosomal recessive; Ataxia, spastic, 5, autosomal recessive; Spinocerebellar ataxia 28, autosomal dominant, 610246 for gene: AFG3L2
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 ADAR Louise Daugherty Source Expert Review Green was added to ADAR.
Mode of inheritance for gene ADAR was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Aicardi-Goutieres syndrome 6, 615010 autosomal recessive; Dyschromatosis symmetrica hereditaria, autosomal dominant, 127400 for gene: ADAR
Rating Changed from Red List (low evidence) to Green List (high evidence)
Adult onset hereditary spastic paraplegia v0.4 ABCD1 Louise Daugherty Source Expert Review Green was added to ABCD1.
Mode of inheritance for gene ABCD1 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 spastic paraparesis; Hereditary spastic paraplegia; VLCFA accumulation; adrenal failure; Adrenoleukodystrophy, 300100 for gene: ABCD1
Rating Changed from Red List (low evidence) to Green List (high evidence)
Mitochondrial disorders v1.198 RTN4IP1 Sarah Leigh Classified gene: RTN4IP1 as Green List (high evidence)
Mitochondrial disorders v1.198 RTN4IP1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 11 variants reported in at least 8 unrelated cases.
Mitochondrial disorders v1.198 RTN4IP1 Sarah Leigh Gene: rtn4ip1 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.197 RTN4IP1 Sarah Leigh Mode of inheritance for gene: RTN4IP1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.196 RTN4IP1 Sarah Leigh Publications for gene: RTN4IP1 were set to
Mitochondrial disorders v1.195 RTN4IP1 Sarah Leigh Phenotypes for gene: RTN4IP1 were changed from to Optic atrophy 10 with or without ataxia, mental retardation, and seizures 616732
Mitochondrial disorders v1.194 QRSL1 Sarah Leigh Classified gene: QRSL1 as Green List (high evidence)
Mitochondrial disorders v1.194 QRSL1 Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. At least 2 biallelic variants reported in two unrelated cases, together with supportive functional evidence.
Mitochondrial disorders v1.194 QRSL1 Sarah Leigh Gene: qrsl1 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.193 QRSL1 Sarah Leigh Mode of inheritance for gene: QRSL1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.75 VAX1 Ivone Leong commented on gene: VAX1: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.75 SIX3 Ivone Leong commented on gene: SIX3: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.75 SALL2 Ivone Leong commented on gene: SALL2: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.75 OFD1 Ivone Leong commented on gene: OFD1: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.75 MIR204 Ivone Leong commented on gene: MIR204: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.75 HMGB3 Ivone Leong commented on gene: HMGB3: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.75 GDF3 Ivone Leong commented on gene: GDF3: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.75 FZD4 Ivone Leong commented on gene: FZD4: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.75 ERCC1 Ivone Leong commented on gene: ERCC1: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.75 CRB1 Ivone Leong commented on gene: CRB1: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.75 COL2A1 Ivone Leong commented on gene: COL2A1: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.75 CNNM4 Ivone Leong commented on gene: CNNM4: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.75 BMPR1A Ivone Leong commented on gene: BMPR1A: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.75 BMP7 Ivone Leong commented on gene: BMP7: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.75 AIPL1 Ivone Leong commented on gene: AIPL1: Promoted from red to amber based on the expert review provided.
Structural eye disease v0.74 VAX1 Ivone Leong Source Expert Review Amber was added to VAX1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.74 SIX3 Ivone Leong Source Expert Review Amber was added to SIX3.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.74 SALL2 Ivone Leong Source Expert Review Amber was added to SALL2.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.74 OFD1 Ivone Leong Source Expert Review Amber was added to OFD1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.74 MIR204 Ivone Leong Source Expert Review Amber was added to MIR204.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.74 HMGB3 Ivone Leong Source Expert Review Amber was added to HMGB3.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.74 GDF3 Ivone Leong Source Expert Review Amber was added to GDF3.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.74 FZD4 Ivone Leong Source Expert Review Amber was added to FZD4.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.74 ERCC1 Ivone Leong Source Expert Review Amber was added to ERCC1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.74 CRB1 Ivone Leong Source Expert Review Amber was added to CRB1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.74 COL2A1 Ivone Leong Source Expert Review Amber was added to COL2A1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.74 CNNM4 Ivone Leong Source Expert Review Amber was added to CNNM4.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.74 BMPR1A Ivone Leong Source Expert Review Amber was added to BMPR1A.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.74 BMP7 Ivone Leong Source Expert Review Amber was added to BMP7.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Structural eye disease v0.74 AIPL1 Ivone Leong Source Expert Review Amber was added to AIPL1.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Fetal anomalies v0.218 MYT1 Rebecca Foulger Publications for gene: MYT1 were set to 28612832
Fetal anomalies v0.217 MYT1 Rebecca Foulger commented on gene: MYT1: MYT1 is not currently associated with a disorder in OMIM (April 2019).
Fetal anomalies v0.217 TBL1XR1 Rebecca Foulger Publications for gene: TBL1XR1 were set to 28687524; 30365874; 26769062; 25425123; 23160955
Fetal anomalies v0.216 TBL1XR1 Rebecca Foulger Tag missense tag was added to gene: TBL1XR1.
Fetal anomalies v0.216 TBL1XR1 Rebecca Foulger commented on gene: TBL1XR1: Evidence assessment for 'Pierpont syndrome, 602342' comprises 6 unrelated patients from Heinen et al. 2016 (PMID:26769062) with the same de novo heterozygous missense variant in the TBL1XR1 gene (c.1337A>G, p.Y446C). Plus a male child with the same missense variant from Kahlert et al., 2017 (PMID:28562391).
Fetal anomalies v0.216 EMG1 Rebecca Foulger Classified gene: EMG1 as Amber List (moderate evidence)
Fetal anomalies v0.216 EMG1 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber awaiting further published/clinical evidence. Phenotype is fetally-relevant (see review from Deirdre Cilliers) but current gene:disease evidence for Bowen-Conradi syndrome is limited to Hutterite families (PMID:19463982).
Fetal anomalies v0.216 EMG1 Rebecca Foulger Gene: emg1 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.215 SUFU Rebecca Foulger Classified gene: SUFU as Amber List (moderate evidence)
Fetal anomalies v0.215 SUFU Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber awaiting further published or clinical evidence. Joubert syndrome is fetally-relevant (see review by Dierdre Cilliers) but currently only 2 unrelated cases from one paper (PMID:28965847) and SUFU is Amber on the related 'Rare multisystem ciliopathy disorders' panel (for Joubert syndrome).
Fetal anomalies v0.215 SUFU Rebecca Foulger Gene: sufu has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.214 POMK Rebecca Foulger Classified gene: POMK as Green List (high evidence)
Fetal anomalies v0.214 POMK Rebecca Foulger Gene: pomk has been classified as Green List (High Evidence).
Fetal anomalies v0.213 POMK Rebecca Foulger Classified gene: POMK as Amber List (moderate evidence)
Fetal anomalies v0.213 POMK Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: Fetally-relevant phenotype (hydrocephalus and macrocephaly detected in utero in patient in PMID:24925318) plus sufficient cases in literature/OMIM to support causation. Plus POMK is rated Green on PanelApp panels including Congenital muscular dystrophy/Hydrocephalus/Arthrogryposis.
Fetal anomalies v0.213 POMK Rebecca Foulger Gene: pomk has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.212 POMK Rebecca Foulger Publications for gene: POMK were set to 23519211; 24925318
Fetal anomalies v0.211 POMK Rebecca Foulger Added comment: Comment on publications: POMK is called SGK196 in PMID:23519211.
Fetal anomalies v0.211 POMK Rebecca Foulger Publications for gene: POMK were set to
Fetal anomalies v0.210 POMK Rebecca Foulger commented on gene: POMK: Patient 3 in PMID:24925318 (Di Costanzo et al, 2014) was an Italian male presenting with the most severe form of dystroglycanopathy, Walker–Warburg syndrome (WWS) and compound het variants in POMK. Macrocephaly and hydrocephalus were diagnosed in utero upon prenatal ultrasound at 32 weeks of gestation.
Fetal anomalies v0.210 POMK Rebecca Foulger commented on gene: POMK: POMK was added to the fetal panel as Amber based on a 'probable' rating in the PAGE original Additional gene list. In the PAGE paper (Lord et al., 2019, PMID:30712880) POMK is listed as an Additional gene based on association with a prenatal phenotype reported in the literature (Supplementary Table 2). POMK is not currently associated with a disorder in DD-Gene2Phenotype but is associated with 'Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12, 615249' in OMIM.
Fetal anomalies v0.210 ZNF423 Rebecca Foulger Classified gene: ZNF423 as Amber List (moderate evidence)
Fetal anomalies v0.210 ZNF423 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber following review of literature evidence in PMID:22863007 and ZNF423 is currently Amber on the 'Rare multisystem ciliopathy disorders' panel. Fetally relevant phenotype but currently insufficient evidence for a Green gene rating.
Fetal anomalies v0.210 ZNF423 Rebecca Foulger Gene: znf423 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.210 ZNF423 Rebecca Foulger Classified gene: ZNF423 as Amber List (moderate evidence)
Fetal anomalies v0.210 ZNF423 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Amber following review of literature evidence in PMID:22863007 and ZNF423 is currently Amber on the 'Rare multisystem ciliopathy disorders' panel. Fetally relevant phenotype but currently insufficient evidence for a Green gene rating.
Fetal anomalies v0.210 ZNF423 Rebecca Foulger Gene: znf423 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.209 ZNF423 Rebecca Foulger Publications for gene: ZNF423 were set to
Fetal anomalies v0.208 ZNF423 Rebecca Foulger commented on gene: ZNF423: Chaki et al. (2012 PMID:22863007) identified a homozygous 2738C-T variant in the ZNF423 gene (P913L) in two Turkish siblings with with nephronophthisis-14 manifested as infantile-onset kidney disease, cerebellar vermis hypoplasia, and situs inversus. Heterozygous variants were found in two additional unrelated patients with Joubert syndrome.
Adult onset hereditary spastic paraplegia v0.3 ZFYVE26 Louise Daugherty Source NHS GMS was added to ZFYVE26.
Adult onset hereditary spastic paraplegia v0.3 WDR45B Louise Daugherty Source NHS GMS was added to WDR45B.
Adult onset hereditary spastic paraplegia v0.3 WASHC5 Louise Daugherty Source NHS GMS was added to WASHC5.
Adult onset hereditary spastic paraplegia v0.3 VPS37A Louise Daugherty Source NHS GMS was added to VPS37A.
Adult onset hereditary spastic paraplegia v0.3 VAMP1 Louise Daugherty Source NHS GMS was added to VAMP1.
Adult onset hereditary spastic paraplegia v0.3 UCHL1 Louise Daugherty Source NHS GMS was added to UCHL1.
Adult onset hereditary spastic paraplegia v0.3 TUBB4A Louise Daugherty Source NHS GMS was added to TUBB4A.
Adult onset hereditary spastic paraplegia v0.3 TFG Louise Daugherty Source NHS GMS was added to TFG.
Adult onset hereditary spastic paraplegia v0.3 TECPR2 Louise Daugherty Source NHS GMS was added to TECPR2.
Adult onset hereditary spastic paraplegia v0.3 SPG7 Louise Daugherty Source NHS GMS was added to SPG7.
Adult onset hereditary spastic paraplegia v0.3 SPG21 Louise Daugherty Source NHS GMS was added to SPG21.
Adult onset hereditary spastic paraplegia v0.3 SPG11 Louise Daugherty Source NHS GMS was added to SPG11.
Adult onset hereditary spastic paraplegia v0.3 SPAST Louise Daugherty Source NHS GMS was added to SPAST.
Adult onset hereditary spastic paraplegia v0.3 SPART Louise Daugherty Source NHS GMS was added to SPART.
Adult onset hereditary spastic paraplegia v0.3 SLC33A1 Louise Daugherty Source NHS GMS was added to SLC33A1.
Adult onset hereditary spastic paraplegia v0.3 SLC25A46 Louise Daugherty Source NHS GMS was added to SLC25A46.
Adult onset hereditary spastic paraplegia v0.3 SLC1A4 Louise Daugherty Source NHS GMS was added to SLC1A4.
Adult onset hereditary spastic paraplegia v0.3 SLC16A2 Louise Daugherty Source NHS GMS was added to SLC16A2.
Adult onset hereditary spastic paraplegia v0.3 SERAC1 Louise Daugherty Source NHS GMS was added to SERAC1.
Adult onset hereditary spastic paraplegia v0.3 SACS Louise Daugherty Source NHS GMS was added to SACS.
Adult onset hereditary spastic paraplegia v0.3 RTN2 Louise Daugherty Source NHS GMS was added to RTN2.
Adult onset hereditary spastic paraplegia v0.3 REEP2 Louise Daugherty Source NHS GMS was added to REEP2.
Adult onset hereditary spastic paraplegia v0.3 REEP1 Louise Daugherty Source NHS GMS was added to REEP1.
Adult onset hereditary spastic paraplegia v0.3 PSEN1 Louise Daugherty Source NHS GMS was added to PSEN1.
Adult onset hereditary spastic paraplegia v0.3 POLR3A Louise Daugherty Source NHS GMS was added to POLR3A.
Adult onset hereditary spastic paraplegia v0.3 PNPLA6 Louise Daugherty Source NHS GMS was added to PNPLA6.
Adult onset hereditary spastic paraplegia v0.3 PLP1 Louise Daugherty Source NHS GMS was added to PLP1.
Adult onset hereditary spastic paraplegia v0.3 OPA3 Louise Daugherty Source NHS GMS was added to OPA3.
Adult onset hereditary spastic paraplegia v0.3 NT5C2 Louise Daugherty Source NHS GMS was added to NT5C2.
Adult onset hereditary spastic paraplegia v0.3 NKX6-2 Louise Daugherty Source NHS GMS was added to NKX6-2.
Adult onset hereditary spastic paraplegia v0.3 NIPA1 Louise Daugherty Source NHS GMS was added to NIPA1.
Adult onset hereditary spastic paraplegia v0.3 MTPAP Louise Daugherty Source NHS GMS was added to MTPAP.
Adult onset hereditary spastic paraplegia v0.3 MARS2 Louise Daugherty Source NHS GMS was added to MARS2.
Adult onset hereditary spastic paraplegia v0.3 MAG Louise Daugherty Source NHS GMS was added to MAG.
Adult onset hereditary spastic paraplegia v0.3 LYST Louise Daugherty Source NHS GMS was added to LYST.
Adult onset hereditary spastic paraplegia v0.3 L1CAM Louise Daugherty Source NHS GMS was added to L1CAM.
Adult onset hereditary spastic paraplegia v0.3 KIF5A Louise Daugherty Source NHS GMS was added to KIF5A.
Adult onset hereditary spastic paraplegia v0.3 KIF1C Louise Daugherty Source NHS GMS was added to KIF1C.
Adult onset hereditary spastic paraplegia v0.3 KIF1A Louise Daugherty Source NHS GMS was added to KIF1A.
Adult onset hereditary spastic paraplegia v0.3 KIDINS220 Louise Daugherty Source NHS GMS was added to KIDINS220.
Adult onset hereditary spastic paraplegia v0.3 KDM5C Louise Daugherty Source NHS GMS was added to KDM5C.
Adult onset hereditary spastic paraplegia v0.3 KCNA2 Louise Daugherty Source NHS GMS was added to KCNA2.
Adult onset hereditary spastic paraplegia v0.3 IBA57 Louise Daugherty Source NHS GMS was added to IBA57.
Adult onset hereditary spastic paraplegia v0.3 HSPD1 Louise Daugherty Source NHS GMS was added to HSPD1.
Adult onset hereditary spastic paraplegia v0.3 HACE1 Louise Daugherty Source NHS GMS was added to HACE1.
Adult onset hereditary spastic paraplegia v0.3 GJC2 Louise Daugherty Source NHS GMS was added to GJC2.
Adult onset hereditary spastic paraplegia v0.3 GCH1 Louise Daugherty Source NHS GMS was added to GCH1.
Adult onset hereditary spastic paraplegia v0.3 GBA2 Louise Daugherty Source NHS GMS was added to GBA2.
Adult onset hereditary spastic paraplegia v0.3 FARS2 Louise Daugherty Source NHS GMS was added to FARS2.
Adult onset hereditary spastic paraplegia v0.3 FA2H Louise Daugherty Source NHS GMS was added to FA2H.
Adult onset hereditary spastic paraplegia v0.3 ERLIN2 Louise Daugherty Source NHS GMS was added to ERLIN2.
Adult onset hereditary spastic paraplegia v0.3 ERLIN1 Louise Daugherty Source NHS GMS was added to ERLIN1.
Adult onset hereditary spastic paraplegia v0.3 DSTYK Louise Daugherty Source NHS GMS was added to DSTYK.
Adult onset hereditary spastic paraplegia v0.3 DDHD2 Louise Daugherty Source NHS GMS was added to DDHD2.
Adult onset hereditary spastic paraplegia v0.3 DDHD1 Louise Daugherty Source NHS GMS was added to DDHD1.
Adult onset hereditary spastic paraplegia v0.3 DARS Louise Daugherty Source NHS GMS was added to DARS.
Adult onset hereditary spastic paraplegia v0.3 CYP7B1 Louise Daugherty Source NHS GMS was added to CYP7B1.
Adult onset hereditary spastic paraplegia v0.3 CYP2U1 Louise Daugherty Source NHS GMS was added to CYP2U1.
Adult onset hereditary spastic paraplegia v0.3 CYP27A1 Louise Daugherty Source NHS GMS was added to CYP27A1.
Adult onset hereditary spastic paraplegia v0.3 CPT1C Louise Daugherty Source NHS GMS was added to CPT1C.
Adult onset hereditary spastic paraplegia v0.3 CDK16 Louise Daugherty Source NHS GMS was added to CDK16.
Adult onset hereditary spastic paraplegia v0.3 CAPN1 Louise Daugherty Source NHS GMS was added to CAPN1.
Adult onset hereditary spastic paraplegia v0.3 C19orf12 Louise Daugherty Source NHS GMS was added to C19orf12.
Adult onset hereditary spastic paraplegia v0.3 C12orf65 Louise Daugherty Source NHS GMS was added to C12orf65.
Adult onset hereditary spastic paraplegia v0.3 BSCL2 Louise Daugherty Source NHS GMS was added to BSCL2.
Adult onset hereditary spastic paraplegia v0.3 B4GALNT1 Louise Daugherty Source NHS GMS was added to B4GALNT1.
Adult onset hereditary spastic paraplegia v0.3 ATP13A2 Louise Daugherty Source NHS GMS was added to ATP13A2.
Adult onset hereditary spastic paraplegia v0.3 ATL1 Louise Daugherty Source NHS GMS was added to ATL1.
Adult onset hereditary spastic paraplegia v0.3 ARG1 Louise Daugherty Source NHS GMS was added to ARG1.
Adult onset hereditary spastic paraplegia v0.3 AP5Z1 Louise Daugherty Source NHS GMS was added to AP5Z1.
Adult onset hereditary spastic paraplegia v0.3 AP4S1 Louise Daugherty Source NHS GMS was added to AP4S1.
Adult onset hereditary spastic paraplegia v0.3 AP4M1 Louise Daugherty Source NHS GMS was added to AP4M1.
Adult onset hereditary spastic paraplegia v0.3 AP4E1 Louise Daugherty Source NHS GMS was added to AP4E1.
Adult onset hereditary spastic paraplegia v0.3 AP4B1 Louise Daugherty Source NHS GMS was added to AP4B1.
Adult onset hereditary spastic paraplegia v0.3 AMPD2 Louise Daugherty Source NHS GMS was added to AMPD2.
Adult onset hereditary spastic paraplegia v0.3 ALS2 Louise Daugherty Source NHS GMS was added to ALS2.
Adult onset hereditary spastic paraplegia v0.3 ALDH18A1 Louise Daugherty Source NHS GMS was added to ALDH18A1.
Adult onset hereditary spastic paraplegia v0.3 AIMP1 Louise Daugherty Source NHS GMS was added to AIMP1.
Adult onset hereditary spastic paraplegia v0.3 AFG3L2 Louise Daugherty Source NHS GMS was added to AFG3L2.
Adult onset hereditary spastic paraplegia v0.3 ADAR Louise Daugherty Source NHS GMS was added to ADAR.
Adult onset hereditary spastic paraplegia v0.3 ABCD1 Louise Daugherty Source NHS GMS was added to ABCD1.
Adult onset hereditary spastic paraplegia v0.2 ZFYVE26 Louise Daugherty gene: ZFYVE26 was added
gene: ZFYVE26 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: ZFYVE26 was set to
Adult onset hereditary spastic paraplegia v0.2 WDR45B Louise Daugherty gene: WDR45B was added
gene: WDR45B was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: WDR45B was set to
Adult onset hereditary spastic paraplegia v0.2 WASHC5 Louise Daugherty gene: WASHC5 was added
gene: WASHC5 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: WASHC5 was set to
Adult onset hereditary spastic paraplegia v0.2 VPS37A Louise Daugherty gene: VPS37A was added
gene: VPS37A was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: VPS37A was set to
Adult onset hereditary spastic paraplegia v0.2 VAMP1 Louise Daugherty gene: VAMP1 was added
gene: VAMP1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: VAMP1 was set to
Adult onset hereditary spastic paraplegia v0.2 UCHL1 Louise Daugherty gene: UCHL1 was added
gene: UCHL1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: UCHL1 was set to
Adult onset hereditary spastic paraplegia v0.2 TUBB4A Louise Daugherty gene: TUBB4A was added
gene: TUBB4A was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: TUBB4A was set to
Adult onset hereditary spastic paraplegia v0.2 TFG Louise Daugherty gene: TFG was added
gene: TFG was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: TFG was set to
Adult onset hereditary spastic paraplegia v0.2 TECPR2 Louise Daugherty gene: TECPR2 was added
gene: TECPR2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: TECPR2 was set to
Adult onset hereditary spastic paraplegia v0.2 SPG7 Louise Daugherty gene: SPG7 was added
gene: SPG7 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: SPG7 was set to
Adult onset hereditary spastic paraplegia v0.2 SPG21 Louise Daugherty gene: SPG21 was added
gene: SPG21 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: SPG21 was set to
Adult onset hereditary spastic paraplegia v0.2 SPG11 Louise Daugherty gene: SPG11 was added
gene: SPG11 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: SPG11 was set to
Adult onset hereditary spastic paraplegia v0.2 SPAST Louise Daugherty gene: SPAST was added
gene: SPAST was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: SPAST was set to
Adult onset hereditary spastic paraplegia v0.2 SPART Louise Daugherty gene: SPART was added
gene: SPART was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: SPART was set to
Adult onset hereditary spastic paraplegia v0.2 SLC33A1 Louise Daugherty gene: SLC33A1 was added
gene: SLC33A1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: SLC33A1 was set to
Adult onset hereditary spastic paraplegia v0.2 SLC25A46 Louise Daugherty gene: SLC25A46 was added
gene: SLC25A46 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: SLC25A46 was set to
Adult onset hereditary spastic paraplegia v0.2 SLC1A4 Louise Daugherty gene: SLC1A4 was added
gene: SLC1A4 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: SLC1A4 was set to
Adult onset hereditary spastic paraplegia v0.2 SLC16A2 Louise Daugherty gene: SLC16A2 was added
gene: SLC16A2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: SLC16A2 was set to
Adult onset hereditary spastic paraplegia v0.2 SERAC1 Louise Daugherty gene: SERAC1 was added
gene: SERAC1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: SERAC1 was set to
Adult onset hereditary spastic paraplegia v0.2 SACS Louise Daugherty gene: SACS was added
gene: SACS was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: SACS was set to
Adult onset hereditary spastic paraplegia v0.2 RTN2 Louise Daugherty gene: RTN2 was added
gene: RTN2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: RTN2 was set to
Adult onset hereditary spastic paraplegia v0.2 REEP2 Louise Daugherty gene: REEP2 was added
gene: REEP2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: REEP2 was set to
Adult onset hereditary spastic paraplegia v0.2 REEP1 Louise Daugherty gene: REEP1 was added
gene: REEP1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: REEP1 was set to
Adult onset hereditary spastic paraplegia v0.2 PSEN1 Louise Daugherty gene: PSEN1 was added
gene: PSEN1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: PSEN1 was set to
Adult onset hereditary spastic paraplegia v0.2 POLR3A Louise Daugherty gene: POLR3A was added
gene: POLR3A was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: POLR3A was set to
Adult onset hereditary spastic paraplegia v0.2 PNPLA6 Louise Daugherty gene: PNPLA6 was added
gene: PNPLA6 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: PNPLA6 was set to
Adult onset hereditary spastic paraplegia v0.2 PLP1 Louise Daugherty gene: PLP1 was added
gene: PLP1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: PLP1 was set to
Adult onset hereditary spastic paraplegia v0.2 OPA3 Louise Daugherty gene: OPA3 was added
gene: OPA3 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: OPA3 was set to
Adult onset hereditary spastic paraplegia v0.2 NT5C2 Louise Daugherty gene: NT5C2 was added
gene: NT5C2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: NT5C2 was set to
Adult onset hereditary spastic paraplegia v0.2 NKX6-2 Louise Daugherty gene: NKX6-2 was added
gene: NKX6-2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: NKX6-2 was set to
Adult onset hereditary spastic paraplegia v0.2 NIPA1 Louise Daugherty gene: NIPA1 was added
gene: NIPA1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: NIPA1 was set to
Adult onset hereditary spastic paraplegia v0.2 MTPAP Louise Daugherty gene: MTPAP was added
gene: MTPAP was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: MTPAP was set to
Adult onset hereditary spastic paraplegia v0.2 MARS2 Louise Daugherty gene: MARS2 was added
gene: MARS2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: MARS2 was set to
Adult onset hereditary spastic paraplegia v0.2 MAG Louise Daugherty gene: MAG was added
gene: MAG was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: MAG was set to
Adult onset hereditary spastic paraplegia v0.2 LYST Louise Daugherty gene: LYST was added
gene: LYST was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: LYST was set to
Adult onset hereditary spastic paraplegia v0.2 L1CAM Louise Daugherty gene: L1CAM was added
gene: L1CAM was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: L1CAM was set to
Adult onset hereditary spastic paraplegia v0.2 KIF5A Louise Daugherty gene: KIF5A was added
gene: KIF5A was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: KIF5A was set to
Adult onset hereditary spastic paraplegia v0.2 KIF1C Louise Daugherty gene: KIF1C was added
gene: KIF1C was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: KIF1C was set to
Adult onset hereditary spastic paraplegia v0.2 KIF1A Louise Daugherty gene: KIF1A was added
gene: KIF1A was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: KIF1A was set to
Adult onset hereditary spastic paraplegia v0.2 KIDINS220 Louise Daugherty gene: KIDINS220 was added
gene: KIDINS220 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: KIDINS220 was set to
Adult onset hereditary spastic paraplegia v0.2 KDM5C Louise Daugherty gene: KDM5C was added
gene: KDM5C was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: KDM5C was set to
Adult onset hereditary spastic paraplegia v0.2 KCNA2 Louise Daugherty gene: KCNA2 was added
gene: KCNA2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: KCNA2 was set to
Adult onset hereditary spastic paraplegia v0.2 IBA57 Louise Daugherty gene: IBA57 was added
gene: IBA57 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: IBA57 was set to
Adult onset hereditary spastic paraplegia v0.2 HSPD1 Louise Daugherty gene: HSPD1 was added
gene: HSPD1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: HSPD1 was set to
Adult onset hereditary spastic paraplegia v0.2 HACE1 Louise Daugherty gene: HACE1 was added
gene: HACE1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: HACE1 was set to
Adult onset hereditary spastic paraplegia v0.2 GJC2 Louise Daugherty gene: GJC2 was added
gene: GJC2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: GJC2 was set to
Adult onset hereditary spastic paraplegia v0.2 GCH1 Louise Daugherty gene: GCH1 was added
gene: GCH1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: GCH1 was set to
Adult onset hereditary spastic paraplegia v0.2 GBA2 Louise Daugherty gene: GBA2 was added
gene: GBA2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: GBA2 was set to
Adult onset hereditary spastic paraplegia v0.2 FARS2 Louise Daugherty gene: FARS2 was added
gene: FARS2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: FARS2 was set to
Adult onset hereditary spastic paraplegia v0.2 FA2H Louise Daugherty gene: FA2H was added
gene: FA2H was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: FA2H was set to
Adult onset hereditary spastic paraplegia v0.2 ERLIN2 Louise Daugherty gene: ERLIN2 was added
gene: ERLIN2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: ERLIN2 was set to
Adult onset hereditary spastic paraplegia v0.2 ERLIN1 Louise Daugherty gene: ERLIN1 was added
gene: ERLIN1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: ERLIN1 was set to
Adult onset hereditary spastic paraplegia v0.2 DSTYK Louise Daugherty gene: DSTYK was added
gene: DSTYK was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: DSTYK was set to
Adult onset hereditary spastic paraplegia v0.2 DDHD2 Louise Daugherty gene: DDHD2 was added
gene: DDHD2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: DDHD2 was set to
Adult onset hereditary spastic paraplegia v0.2 DDHD1 Louise Daugherty gene: DDHD1 was added
gene: DDHD1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: DDHD1 was set to
Adult onset hereditary spastic paraplegia v0.2 DARS Louise Daugherty gene: DARS was added
gene: DARS was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: DARS was set to
Adult onset hereditary spastic paraplegia v0.2 CYP7B1 Louise Daugherty gene: CYP7B1 was added
gene: CYP7B1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: CYP7B1 was set to
Adult onset hereditary spastic paraplegia v0.2 CYP2U1 Louise Daugherty gene: CYP2U1 was added
gene: CYP2U1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: CYP2U1 was set to
Adult onset hereditary spastic paraplegia v0.2 CYP27A1 Louise Daugherty gene: CYP27A1 was added
gene: CYP27A1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: CYP27A1 was set to
Adult onset hereditary spastic paraplegia v0.2 CPT1C Louise Daugherty gene: CPT1C was added
gene: CPT1C was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: CPT1C was set to
Adult onset hereditary spastic paraplegia v0.2 CDK16 Louise Daugherty gene: CDK16 was added
gene: CDK16 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: CDK16 was set to
Adult onset hereditary spastic paraplegia v0.2 CAPN1 Louise Daugherty gene: CAPN1 was added
gene: CAPN1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: CAPN1 was set to
Adult onset hereditary spastic paraplegia v0.2 C19orf12 Louise Daugherty gene: C19orf12 was added
gene: C19orf12 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: C19orf12 was set to
Adult onset hereditary spastic paraplegia v0.2 C12orf65 Louise Daugherty gene: C12orf65 was added
gene: C12orf65 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: C12orf65 was set to
Adult onset hereditary spastic paraplegia v0.2 BSCL2 Louise Daugherty gene: BSCL2 was added
gene: BSCL2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: BSCL2 was set to
Adult onset hereditary spastic paraplegia v0.2 B4GALNT1 Louise Daugherty gene: B4GALNT1 was added
gene: B4GALNT1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: B4GALNT1 was set to
Adult onset hereditary spastic paraplegia v0.2 ATP13A2 Louise Daugherty gene: ATP13A2 was added
gene: ATP13A2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: ATP13A2 was set to
Adult onset hereditary spastic paraplegia v0.2 ATL1 Louise Daugherty gene: ATL1 was added
gene: ATL1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: ATL1 was set to
Adult onset hereditary spastic paraplegia v0.2 ARG1 Louise Daugherty gene: ARG1 was added
gene: ARG1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: ARG1 was set to
Adult onset hereditary spastic paraplegia v0.2 AP5Z1 Louise Daugherty gene: AP5Z1 was added
gene: AP5Z1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: AP5Z1 was set to
Adult onset hereditary spastic paraplegia v0.2 AP4S1 Louise Daugherty gene: AP4S1 was added
gene: AP4S1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: AP4S1 was set to
Adult onset hereditary spastic paraplegia v0.2 AP4M1 Louise Daugherty gene: AP4M1 was added
gene: AP4M1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: AP4M1 was set to
Adult onset hereditary spastic paraplegia v0.2 AP4E1 Louise Daugherty gene: AP4E1 was added
gene: AP4E1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: AP4E1 was set to
Adult onset hereditary spastic paraplegia v0.2 AP4B1 Louise Daugherty gene: AP4B1 was added
gene: AP4B1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: AP4B1 was set to
Adult onset hereditary spastic paraplegia v0.2 AMPD2 Louise Daugherty gene: AMPD2 was added
gene: AMPD2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: AMPD2 was set to
Adult onset hereditary spastic paraplegia v0.2 ALS2 Louise Daugherty gene: ALS2 was added
gene: ALS2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: ALS2 was set to
Adult onset hereditary spastic paraplegia v0.2 ALDH18A1 Louise Daugherty gene: ALDH18A1 was added
gene: ALDH18A1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: ALDH18A1 was set to
Adult onset hereditary spastic paraplegia v0.2 AIMP1 Louise Daugherty gene: AIMP1 was added
gene: AIMP1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: AIMP1 was set to
Adult onset hereditary spastic paraplegia v0.2 AFG3L2 Louise Daugherty gene: AFG3L2 was added
gene: AFG3L2 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: AFG3L2 was set to
Adult onset hereditary spastic paraplegia v0.2 ADAR Louise Daugherty gene: ADAR was added
gene: ADAR was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: ADAR was set to
Adult onset hereditary spastic paraplegia v0.2 ABCD1 Louise Daugherty gene: ABCD1 was added
gene: ABCD1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH
Mode of inheritance for gene: ABCD1 was set to
Structural eye disease v0.73 LRP5 Ivone Leong Mode of inheritance for gene: LRP5 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.72 ATOH7 Ivone Leong Classified gene: ATOH7 as Green List (high evidence)
Structural eye disease v0.72 ATOH7 Ivone Leong Added comment: Comment on list classification: Promoted from red to green as there is sufficient evidence.
Structural eye disease v0.72 ATOH7 Ivone Leong Gene: atoh7 has been classified as Green List (High Evidence).
Structural eye disease v0.71 DDX58 Ivone Leong edited their review of gene: DDX58: Added comment: Promoted from amber to green as there is sufficient evidence.; Changed publications: 25620203, 30574673
Structural eye disease v0.71 GJA1 Ivone Leong edited their review of gene: GJA1: Added comment: Promoted from amber to green as there is sufficient evidence.; Changed publications: 21273537, 25976645, 15637728, 24508941, 30628995
Structural eye disease v0.71 HMX1 Ivone Leong edited their review of gene: HMX1: Added comment: Promoted from amber to green as there is sufficient evidence.; Changed publications: 18423520, 21417677, 25574057, 29140751
Structural eye disease v0.71 LRP2 Ivone Leong edited their review of gene: LRP2: Added comment: Promoted from amber to green as there is sufficient evidence.; Changed publications: 17632512, 8266995, 18553518
Adult onset neurodegenerative disorder v1.13 PPP2R2B_CAG Louise Daugherty edited their review of STR: PPP2R2B_CAG: Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.; Set current diagnostic: yes
Structural eye disease v0.71 MAF Ivone Leong edited their review of gene: MAF: Added comment: Promoted from amber to green as there is sufficient evidence.; Changed publications: 12642301, 17982426
Structural eye disease v0.71 PIGL Ivone Leong commented on gene: PIGL: Promoted from amber to green as there is sufficient evidence.
Adult onset neurodegenerative disorder v1.13 NOP56_GGCCTG Louise Daugherty commented on STR: NOP56_GGCCTG: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.
Structural eye disease v0.71 TUBGCP4 Ivone Leong commented on gene: TUBGCP4: Promoted from amber to green as there is sufficient evidence.
Adult onset neurodegenerative disorder v1.13 JPH3_CTG Louise Daugherty commented on STR: JPH3_CTG: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.13 HTT_CAG Louise Daugherty edited their review of STR: HTT_CAG: Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.; Set current diagnostic: yes
Structural eye disease v0.71 ABCB6 Ivone Leong commented on gene: ABCB6: Promoted from red to green as there is sufficient evidence.
Adult onset neurodegenerative disorder v1.13 C9orf72_GGGGCC Louise Daugherty edited their review of STR: C9orf72_GGGGCC: Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.; Set current diagnostic: yes
Adult onset neurodegenerative disorder v1.13 ATXN3_CAG Louise Daugherty edited their review of STR: ATXN3_CAG: Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.; Set current diagnostic: yes
Adult onset neurodegenerative disorder v1.13 ATXN2_CAG Louise Daugherty edited their review of STR: ATXN2_CAG: Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.; Set current diagnostic: yes
Structural eye disease v0.71 ABCB6 Ivone Leong Classified gene: ABCB6 as Green List (high evidence)
Structural eye disease v0.71 ABCB6 Ivone Leong Gene: abcb6 has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v1.13 ATXN10_ATTCT Louise Daugherty commented on STR: ATXN10_ATTCT: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.
Structural eye disease v0.70 TUBGCP4 Ivone Leong Classified gene: TUBGCP4 as Green List (high evidence)
Structural eye disease v0.70 TUBGCP4 Ivone Leong Gene: tubgcp4 has been classified as Green List (High Evidence).
Structural eye disease v0.69 TUBGCP4 Ivone Leong Classified gene: TUBGCP4 as Green List (high evidence)
Structural eye disease v0.69 TUBGCP4 Ivone Leong Gene: tubgcp4 has been classified as Green List (High Evidence).
Structural eye disease v0.68 GJA1 Ivone Leong Classified gene: GJA1 as Green List (high evidence)
Structural eye disease v0.68 GJA1 Ivone Leong Gene: gja1 has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v1.13 ATXN1_CAG Louise Daugherty commented on STR: ATXN1_CAG: Green rating for STR submitted by James Polke (North Bristol NHS Trust) and indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.
Structural eye disease v0.67 SIX6 Ivone Leong Mode of inheritance for gene: SIX6 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown - Change to BIALLELIC, autosomal or pseudoautosomal
Structural eye disease v0.66 KMT2D Ivone Leong Publications for gene: KMT2D were set to
Adult onset neurodegenerative disorder v1.13 ATN1_CAG Louise Daugherty edited their review of STR: ATN1_CAG: Added comment: Green rating for STR submitted by James Polke (North Bristol NHS Trust) and indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.; Set current diagnostic: yes
Adult onset neurodegenerative disorder v1.13 AR_CAG Louise Daugherty edited their review of STR: AR_CAG: Added comment: Green rating for STR submitted by James Polke (North Bristol NHS Trust) and indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.; Set current diagnostic: yes
Structural eye disease v0.65 KIAA1109 Ivone Leong Publications for gene: KIAA1109 were set to 617822; 29290337
Adult onset neurodegenerative disorder v1.13 ISCA-37478-Loss Louise Daugherty Source NHS GMS was added to Region: ISCA-37478-Loss.
Adult onset neurodegenerative disorder v1.13 ISCA-37478-Gain Louise Daugherty Source NHS GMS was added to Region: ISCA-37478-Gain.
Adult onset neurodegenerative disorder v1.13 ISCA-37468-Loss Louise Daugherty Source NHS GMS was added to Region: ISCA-37468-Loss.
Adult onset neurodegenerative disorder v1.13 ISCA-37404-Loss Louise Daugherty Source NHS GMS was added to Region: ISCA-37404-Loss.
Adult onset neurodegenerative disorder v1.12 ISCA-37478-Loss Louise Daugherty Source London North GLH was added to Region: ISCA-37478-Loss.
Added phenotypes 105830; Angelman syndrome; Developmental delay, muscle weakness; Mental retardation; 176270; microcephaly; Prader-Willi syndrome for Region: ISCA-37478-Loss
Adult onset neurodegenerative disorder v1.12 ISCA-37478-Gain Louise Daugherty Source London North GLH was added to Region: ISCA-37478-Gain.
Publications for Region: ISCA-37478-Gain were changed from 16840569; 9106540; 18374305 to 18374305; 9106540; 16840569
Adult onset neurodegenerative disorder v1.12 ISCA-37468-Loss Louise Daugherty Source London North GLH was added to Region: ISCA-37468-Loss.
Added phenotypes hypotonia; episodes of sudden loss of muscle tone; short stature; severe intellectual disability; autistic features; eleveated serotonin levels; exiting behavior; lip-smacking; stereotypical hand movements for Region: ISCA-37468-Loss
Publications for Region: ISCA-37468-Loss were changed from 23414621; 22365943; 20485326 to 22365943; 20485326; 23414621
Adult onset neurodegenerative disorder v1.12 ISCA-37404-Loss Louise Daugherty Source London North GLH was added to Region: ISCA-37404-Loss.
Added phenotypes 105831; Angelman syndrome; Developmental delay, muscle weakness; Mental retardation; 176270; microcephaly; Prader-Willi syndrome for Region: ISCA-37404-Loss
Structural eye disease v0.64 KMT2D Ivone Leong Classified gene: KMT2D as Green List (high evidence)
Structural eye disease v0.64 KMT2D Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Structural eye disease panel webex call 24th April 2019: It was agreed that there is enough evidence to rate this gene green.
Structural eye disease v0.64 KMT2D Ivone Leong Gene: kmt2d has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v1.11 ISCA-37478-Loss Louise Daugherty reviewed Region: ISCA-37478-Loss: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v1.11 ISCA-37478-Gain Louise Daugherty edited their review of Region: ISCA-37478-Gain: Changed rating: RED
Adult onset neurodegenerative disorder v1.11 ISCA-37478-Gain Louise Daugherty commented on Region: ISCA-37478-Gain
Adult onset neurodegenerative disorder v1.11 ISCA-37468-Loss Louise Daugherty reviewed Region: ISCA-37468-Loss: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v1.11 ISCA-37404-Loss Louise Daugherty reviewed Region: ISCA-37404-Loss: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Structural eye disease v0.63 SBF2 Ivone Leong Classified gene: SBF2 as Green List (high evidence)
Structural eye disease v0.63 SBF2 Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Structural eye disease panel webex call 24th April 2019: It was agreed that there is enough evidence to rate this gene green.
Structural eye disease v0.63 SBF2 Ivone Leong Gene: sbf2 has been classified as Green List (High Evidence).
Structural eye disease v0.62 RBP4 Ivone Leong Classified gene: RBP4 as Green List (high evidence)
Structural eye disease v0.62 RBP4 Ivone Leong Added comment: Comment on list classification: As discussed in the GMS Structural eye disease panel webex call 24th April 2019: It was agreed that there is enough evidence to rate this gene green.
Structural eye disease v0.62 RBP4 Ivone Leong Gene: rbp4 has been classified as Green List (High Evidence).
Structural eye disease v0.61 RBP4 Ivone Leong Mode of inheritance for gene: RBP4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Fetal anomalies v0.208 ZNF423 Rebecca Foulger commented on gene: ZNF423: ZNF423 was added to the fetal panel as Amber based on a 'probable' rating in the PAGE original Additional gene list. In the PAGE paper (Lord et al., 2019, PMID:30712880) ZNF423 is listed as an Additional gene (Supplementary Table 2) based on association with a prenatal phenotype reported in the literature, with biallelic/monoallelic inheritance.
Fetal anomalies v0.208 ROBO1 Rebecca Foulger Classified gene: ROBO1 as Green List (high evidence)
Fetal anomalies v0.208 ROBO1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green based on 3 probands reported in PMID:28592524 with ROBO loss of function variants and ventral septal heart defects.
Fetal anomalies v0.208 ROBO1 Rebecca Foulger Gene: robo1 has been classified as Green List (High Evidence).
Fetal anomalies v0.207 ROBO1 Rebecca Foulger commented on gene: ROBO1: Evidence for inclusion on the PAGE Additional gene list comes from a single study in Kruszka et al. (2017, PMID:28592524) but 3 families of different ethnicities; each proband had a ventricular septal defect, and one proband had tetralogy of Fallot. Plus proband 1 had craniofacial findings, consistent with the mouse model. VSD can be detected prenatally (e.g. see PMID:24456562) so is relevant for the panel.
Structural eye disease v0.60 BMP4 Ivone Leong edited their review of gene: BMP4: Changed rating: GREEN
Structural eye disease v0.60 BMP4 Ivone Leong edited their review of gene: BMP4: Added comment: As discussed in the GMS Structural eye disease panel webex call 24th April 2019: It was agreed that there is enough evidence to rate this gene green.; Changed publications: 18252212, 2427285
Fetal anomalies v0.207 ROBO1 Rebecca Foulger commented on gene: ROBO1: ROBO1 was added to the fetal panel as Amber based on a 'probable' rating in the PAGE original Additional gene list. In the PAGE paper (Lord et al., 2019, PMID:30712880), ROBO1 is listed as an Additional gene (Supplementary Table 2) based on association with a prenatal phenotype reported in the literature.
Fetal anomalies v0.207 ARL13B Rebecca Foulger Phenotypes for gene: ARL13B were changed from Joubert syndrome 8 612291 to Joubert syndrome 8, 612291
Fetal anomalies v0.206 ARL13B Rebecca Foulger Publications for gene: ARL13B were set to
Fetal anomalies v0.205 ARL13B Rebecca Foulger Classified gene: ARL13B as Green List (high evidence)
Fetal anomalies v0.205 ARL13B Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: ARL13B is on the Additional gene list in the PAGE paper (Lord et al., 2019, PMID:30712880) based on prenatal presentation of a phenotype in the literature. Sufficient (3 unrelated cases in OMIM (Pakistani, American, Tunisian) with homozygous or compound heterozygous variants in ARL13B in patients with a Joubert phenotype (from PMIDs 18674751 and 25138100). Plus functional evidence to support impairment of ARL13B protein function (PMID:29255182). Therefore sufficient evidence to support threshold for Green rating.
Fetal anomalies v0.205 ARL13B Rebecca Foulger Gene: arl13b has been classified as Green List (High Evidence).
Fetal anomalies v0.204 ARL13B Rebecca Foulger commented on gene: ARL13B: ARL13B was added to the fetal panel as Amber based on a 'probable' rating in the PAGE original Additional gene list. In the PAGE paper (Lord et al., 2019, PMID:30712880) ARL13B is listed as an Additional gene (Supplementary Table 2) based on association with a prenatal phenotype reported in the literature.

ARL13B is not currently associated with a disorder in DD-Gene2Phenotype but in OMIM is linked to the biallelic disorder Joubert syndrome 8, 612291.
Fetal anomalies v0.204 ADAMTS17 Rebecca Foulger Publications for gene: ADAMTS17 were set to 19836009; 22486325; 24940034
Fetal anomalies v0.203 ADAMTS17 Rebecca Foulger Added comment: Comment on phenotypes: Updated phenotype to match OMIM entry for MIM:613195
Fetal anomalies v0.203 ADAMTS17 Rebecca Foulger Phenotypes for gene: ADAMTS17 were changed from Weill-Marchesani-like syndrome 613195 to Weill-Marchesani 4 syndrome, recessive, 613195
Fetal anomalies v0.202 ADAMTS17 Rebecca Foulger Publications for gene: ADAMTS17 were set to
Fetal anomalies v0.201 ADAMTS17 Rebecca Foulger Classified gene: ADAMTS17 as Green List (high evidence)
Fetal anomalies v0.201 ADAMTS17 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green: ADAMTS17 is listed as an Additional gene in the PAGE paper (Lord et al., 2019, PMID:30712880) and therefore fetally-relevant (phenotype includes short stature). For evidence, there are sufficient cases in OMIM (5 variants from 5 different families (3 families from PMID:19836009 and one each from PMIDs:22486325 and 24940034) to support a Green (diagnostic-grade) rating.
Fetal anomalies v0.201 ADAMTS17 Rebecca Foulger Gene: adamts17 has been classified as Green List (High Evidence).
Fetal anomalies v0.200 ADAMTS17 Rebecca Foulger commented on gene: ADAMTS17: ADAMTS17 was added to the fetal panel as Amber based on a 'probable' rating in the PAGE original Additional gene list. In the PAGE paper (Lord et al., 2019, PMID:30712880) ADAMTS17 is listed as an Additional gene (Supplementary Table 2) based on association with a prenatal phenotype reported in the literature.

ADAMTS17 is not currently associated with a disorder in DD-Gene2Phenotype but in OMIM is linked to the disorder 'Weill-Marchesani 4 syndrome, recessive, 613195).
Fetal anomalies v0.200 COG4 Rebecca Foulger Publications for gene: COG4 were set to
Fetal anomalies v0.199 COG4 Rebecca Foulger commented on gene: COG4: The evidence for Saul-Wilson syndrome (MIM:618150) comes from one 2018 paper (PMID:30290151): Ferreira et al. (PMID:30290151, 2018) identified 2 different de novo heterozygous vaiants in the COG4 gene in 14 individuals, c.1546G-A and c.1546G-C both of which give rise to an identical missense mutation (G516R). Functional analysis shows that a stable protein is produced and, despite Golgi collapse, glycosylation is relatively normal. Given the DD-G2P Disease confidence rating is 'probable' (March 2019), only a missense variant has been reported, and functional evidence doesn't yet show the effect of the protein alteration, I have kept the MOI for COG4 on the Fetal anomalies panel as biallelic (for the confirmed glycosylation disorder) and not included the monoallelic Saul-Wilson syndrome on the panel at this stage.
Fetal anomalies v0.199 COG4 Rebecca Foulger commented on gene: COG4: COG4 is Green on the fetal panel based on 'confirmed' rating for a biallelic glycosylation disorder (COG4-CDG) and expert clinical review. A probable gene:disease disorder also exists in DD-Gene2Phenotype: Saul-Wilson syndrome. DDG2P Disease confidence: probable. DDG2P mode of pathogenicity/mutation consequence: all missense/in frame, gain of function. DDG2P mode of inheritance: monoallelic.

Saul-Wilson syndrome is a rare form of primordial dwarfism with severe pre-and postnatal growth retardation, and characteristic facial and radiographic features (PMID:30290151). Fetal relevance was confirmed by Anna de Burca but the evidence requires further investigation before the MOI is expanded to include monoallelic variants.
Fetal anomalies v0.199 TTN Rebecca Foulger Classified gene: TTN as Green List (high evidence)
Fetal anomalies v0.199 TTN Rebecca Foulger Added comment: Comment on list classification: Rated as Green following confirmation from Anna de Burca as the following papers demonstrate a fetal relevance:
In PMID:29575618, six of the affecteds were diagnosed prenatally by fetal ultrasound.
In PMID:28040389 a fetal ultrasound reported Clubfoot.
In PMID:29691892 all 30 patients had prenatal or early onset hypotonia and/or congenital contractures. The authors state that: to date, 16 patients from 12 families with a recessive prenatal or infant onset form of titinopathy have been reported.
Fetal anomalies v0.199 TTN Rebecca Foulger Gene: ttn has been classified as Green List (High Evidence).
Fetal anomalies v0.198 TTN Rebecca Foulger gene: TTN was added
gene: TTN was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTN were set to 29575618; 28040389; 29691892
Phenotypes for gene: TTN were set to congenital titinopathy with arthrogryposis
Review for gene: TTN was set to GREEN
Added comment: TTN was reviewed on the DDG2P panel by Lucy Raymond with the comment: Biallelic LOF are congenital titinopathy with arthrogryposis and thus should be included. Rated 'possble' in DD-G2P for 'CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY' but there are sufficient published cases of congenital titinopathies (with or without a cardiac component) for a Green rating. Therefore have added TTN to the Fetal anomalies panel as a Green gene following confirmation by Anna de Burca.
Sources: Expert Review
Fetal anomalies v0.198 TTN Rebecca Foulger gene: TTN was added
gene: TTN was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: TTN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TTN were set to 29575618; 28040389; 29691892
Phenotypes for gene: TTN were set to congenital titinopathy with arthrogryposis
Review for gene: TTN was set to GREEN
Added comment: TTN was reviewed on the DDG2P panel by Lucy Raymond with the comment: Biallelic LOF are congenital titinopathy with arthrogryposis and thus should be included. Rated 'possble' in DD-G2P for 'CAUSE OF EARLY-ONSET MYOPATHY WITH FATAL CARDIOMYOPATHY' but there are sufficient published cases of congenital titinopathies (with or without a cardiac component) for a Green rating. Therefore have added TTN to the Fetal anomalies panel as a Green gene following confirmation by Anna de Burca.
Sources: Expert Review
Adult onset neurodegenerative disorder v1.11 ZFYVE26 Louise Daugherty reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 YY1 Louise Daugherty reviewed gene: YY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 WWOX Louise Daugherty reviewed gene: WWOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 WFS1 Louise Daugherty reviewed gene: WFS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 WDR81 Louise Daugherty reviewed gene: WDR81: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 WDR73 Louise Daugherty reviewed gene: WDR73: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 WDR45B Louise Daugherty reviewed gene: WDR45B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 WASHC5 Louise Daugherty reviewed gene: WASHC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 VRK1 Louise Daugherty reviewed gene: VRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 VPS13D Louise Daugherty reviewed gene: VPS13D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 VLDLR Louise Daugherty reviewed gene: VLDLR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 VAMP1 Louise Daugherty commented on gene: VAMP1: 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 v1.11 VAC14 Louise Daugherty reviewed gene: VAC14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TWNK Louise Daugherty reviewed gene: TWNK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TTPA Louise Daugherty reviewed gene: TTPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TTBK2 Louise Daugherty reviewed gene: TTBK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TSEN54 Louise Daugherty reviewed gene: TSEN54: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TSEN2 Louise Daugherty reviewed gene: TSEN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TPP1 Louise Daugherty reviewed gene: TPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TIA1 Louise Daugherty reviewed gene: TIA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TOR1A Louise Daugherty reviewed gene: TOR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 THAP1 Louise Daugherty reviewed gene: THAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TH Louise Daugherty reviewed gene: TH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TGM6 Louise Daugherty reviewed gene: TGM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SYNE1 Louise Daugherty reviewed gene: SYNE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 STUB1 Louise Daugherty reviewed gene: STUB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SRD5A3 Louise Daugherty reviewed gene: SRD5A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SPTBN2 Louise Daugherty reviewed gene: SPTBN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SPR Louise Daugherty reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SPG7 Louise Daugherty reviewed gene: SPG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SPART Louise Daugherty reviewed gene: SPART: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SNX14 Louise Daugherty reviewed gene: SNX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC9A6 Louise Daugherty reviewed gene: SLC9A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC6A5 Louise Daugherty reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC52A3 Louise Daugherty reviewed gene: SLC52A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC52A2 Louise Daugherty reviewed gene: SLC52A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC39A14 Louise Daugherty reviewed gene: SLC39A14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC2A1 Louise Daugherty reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC25A46 Louise Daugherty reviewed gene: SLC25A46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC1A4 Louise Daugherty reviewed gene: SLC1A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC1A3 Louise Daugherty reviewed gene: SLC1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC16A2 Louise Daugherty reviewed gene: SLC16A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SIL1 Louise Daugherty reviewed gene: SIL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SERAC1 Louise Daugherty reviewed gene: SERAC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SEPSECS Louise Daugherty reviewed gene: SEPSECS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SCN8A Louise Daugherty reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SCN1A Louise Daugherty reviewed gene: SCN1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SAR1B Louise Daugherty reviewed gene: SAR1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SACS Louise Daugherty reviewed gene: SACS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 RTN2 Louise Daugherty reviewed gene: RTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 RNF170 Louise Daugherty reviewed gene: RNF170: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 REEP2 Louise Daugherty commented on gene: REEP2: 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 v1.11 REEP1 Louise Daugherty reviewed gene: REEP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 RARS2 Louise Daugherty reviewed gene: RARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 RAB39B Louise Daugherty reviewed gene: RAB39B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PRRT2 Louise Daugherty reviewed gene: PRRT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PRKCG Louise Daugherty reviewed gene: PRKCG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 POLR3A Louise Daugherty reviewed gene: POLR3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 POLG Louise Daugherty reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PNPLA6 Louise Daugherty reviewed gene: PNPLA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PNKP Louise Daugherty reviewed gene: PNKP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PNKD Louise Daugherty reviewed gene: PNKD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PMPCA Louise Daugherty reviewed gene: PMPCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PLP1 Louise Daugherty reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PEX16 Louise Daugherty reviewed gene: PEX16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PDYN Louise Daugherty reviewed gene: PDYN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PAX6 Louise Daugherty reviewed gene: PAX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 OPHN1 Louise Daugherty reviewed gene: OPHN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 OPA3 Louise Daugherty reviewed gene: OPA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 NKX6-2 Louise Daugherty reviewed gene: NKX6-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 NIPA1 Louise Daugherty reviewed gene: NIPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 NEFH Louise Daugherty commented on gene: NEFH: 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 v1.11 MVK Louise Daugherty commented on gene: MVK: 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 v1.11 MTTP Louise Daugherty reviewed gene: MTTP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 MT-ATP6 Louise Daugherty reviewed gene: MT-ATP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 MRE11 Louise Daugherty reviewed gene: MRE11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 MMACHC Louise Daugherty reviewed gene: MMACHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 MECR Louise Daugherty reviewed gene: MECR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 MARS2 Louise Daugherty reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 MAG Louise Daugherty commented on gene: MAG: 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 v1.11 L1CAM Louise Daugherty reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KMT2B Louise Daugherty reviewed gene: KMT2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KIF1C Louise Daugherty reviewed gene: KIF1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KIF1A Louise Daugherty reviewed gene: KIF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KIDINS220 Louise Daugherty reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KDM5C Louise Daugherty commented on gene: KDM5C: 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 v1.11 KCNQ3 Louise Daugherty reviewed gene: KCNQ3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KCNQ2 Louise Daugherty reviewed gene: KCNQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KCNK18 Louise Daugherty commented on gene: KCNK18: 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 v1.11 KCNJ10 Louise Daugherty reviewed gene: KCNJ10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KCNA1 Louise Daugherty reviewed gene: KCNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ITPR1 Louise Daugherty reviewed gene: ITPR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 IBA57 Louise Daugherty commented on gene: IBA57: 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 v1.11 HSPD1 Louise Daugherty reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 HPCA Louise Daugherty reviewed gene: HPCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 HACE1 Louise Daugherty reviewed gene: HACE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GRM1 Louise Daugherty reviewed gene: GRM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GRID2 Louise Daugherty reviewed gene: GRID2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GPAA1 Louise Daugherty reviewed gene: GPAA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GOSR2 Louise Daugherty reviewed gene: GOSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GNAO1 Louise Daugherty reviewed gene: GNAO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GNAL Louise Daugherty commented on gene: GNAL: 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 v1.11 GLRB Louise Daugherty reviewed gene: GLRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GLRA1 Louise Daugherty reviewed gene: GLRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GJC2 Louise Daugherty reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GCH1 Louise Daugherty commented on gene: GCH1: 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 v1.11 FXN Louise Daugherty reviewed gene: FXN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FOLR1 Louise Daugherty reviewed gene: FOLR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FLVCR1 Louise Daugherty reviewed gene: FLVCR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FGF14 Louise Daugherty reviewed gene: FGF14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FARS2 Louise Daugherty reviewed gene: FARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FA2H Louise Daugherty reviewed gene: FA2H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 EXOSC3 Louise Daugherty reviewed gene: EXOSC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ERLIN2 Louise Daugherty reviewed gene: ERLIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DNAJC19 Louise Daugherty reviewed gene: DNAJC19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DMXL2 Louise Daugherty commented on gene: DMXL2: 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 v1.11 DDHD2 Louise Daugherty reviewed gene: DDHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DDHD1 Louise Daugherty reviewed gene: DDHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DCAF17 Louise Daugherty reviewed gene: DCAF17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DARS Louise Daugherty commented on gene: DARS: 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 v1.11 CWF19L1 Louise Daugherty reviewed gene: CWF19L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CSTB Louise Daugherty reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 COX20 Louise Daugherty reviewed gene: COX20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 COG5 Louise Daugherty commented on gene: COG5: 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 v1.11 CIZ1 Louise Daugherty commented on gene: CIZ1: 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 v1.11 CHMP1A Louise Daugherty reviewed gene: CHMP1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CDK16 Louise Daugherty commented on gene: CDK16: 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 v1.11 CASK Louise Daugherty reviewed gene: CASK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CAMTA1 Louise Daugherty reviewed gene: CAMTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CACNB4 Louise Daugherty reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CACNA1A Louise Daugherty reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CA8 Louise Daugherty reviewed gene: CA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 C12orf65 Louise Daugherty reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 BSCL2 Louise Daugherty reviewed gene: BSCL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 B4GALNT1 Louise Daugherty reviewed gene: B4GALNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ATP7B Louise Daugherty reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ATP1A2 Louise Daugherty reviewed gene: ATP1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ATM Louise Daugherty reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ATL1 Louise Daugherty reviewed gene: ATL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ATCAY Louise Daugherty reviewed gene: ATCAY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ARG1 Louise Daugherty reviewed gene: ARG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 APTX Louise Daugherty reviewed gene: APTX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 AP4S1 Louise Daugherty reviewed gene: AP4S1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 AP4M1 Louise Daugherty reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 AP4E1 Louise Daugherty reviewed gene: AP4E1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 AP4B1 Louise Daugherty reviewed gene: AP4B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 AP1S2 Louise Daugherty reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ANO3 Louise Daugherty reviewed gene: ANO3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ANO10 Louise Daugherty reviewed gene: ANO10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 AMPD2 Louise Daugherty reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ALDH18A1 Louise Daugherty reviewed gene: ALDH18A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 AIMP1 Louise Daugherty edited their review of gene: AIMP1: Added 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.; Changed rating: AMBER
Adult onset neurodegenerative disorder v1.11 ADCY5 Louise Daugherty reviewed gene: ADCY5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ADAR Louise Daugherty reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ABHD12 Louise Daugherty reviewed gene: ABHD12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ABCB7 Louise Daugherty reviewed gene: ABCB7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 AAAS Louise Daugherty reviewed gene: AAAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CHCHD10 Louise Daugherty commented on gene: CHCHD10: 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 v1.11 XPR1 Louise Daugherty reviewed gene: XPR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 WDR45 Louise Daugherty reviewed gene: WDR45: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 VPS35 Louise Daugherty reviewed gene: VPS35: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 VPS13A Louise Daugherty reviewed gene: VPS13A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 VCP Louise Daugherty reviewed gene: VCP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 VAPB Louise Daugherty reviewed gene: VAPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 UBQLN2 Louise Daugherty reviewed gene: UBQLN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TYROBP Louise Daugherty reviewed gene: TYROBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TUBB4A Louise Daugherty reviewed gene: TUBB4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TTC19 Louise Daugherty reviewed gene: TTC19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TREM2 Louise Daugherty reviewed gene: TREM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TMEM240 Louise Daugherty reviewed gene: TMEM240: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TBK1 Louise Daugherty reviewed gene: TBK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TARDBP Louise Daugherty reviewed gene: TARDBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TAF1 Louise Daugherty reviewed gene: TAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SYNJ1 Louise Daugherty reviewed gene: SYNJ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SQSTM1 Louise Daugherty reviewed gene: SQSTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SPG21 Louise Daugherty reviewed gene: SPG21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SPG11 Louise Daugherty reviewed gene: SPG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SPAST Louise Daugherty reviewed gene: SPAST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SOD1 Louise Daugherty reviewed gene: SOD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SNCA Louise Daugherty reviewed gene: SNCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC6A3 Louise Daugherty reviewed gene: SLC6A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC30A10 Louise Daugherty reviewed gene: SLC30A10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC20A2 Louise Daugherty reviewed gene: SLC20A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SIGMAR1 Louise Daugherty reviewed gene: SIGMAR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SGCE Louise Daugherty reviewed gene: SGCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SETX Louise Daugherty reviewed gene: SETX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 RNF216 Louise Daugherty reviewed gene: RNF216: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PSEN2 Louise Daugherty reviewed gene: PSEN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PSEN1 Louise Daugherty reviewed gene: PSEN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PRNP Louise Daugherty reviewed gene: PRNP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PRKRA Louise Daugherty reviewed gene: PRKRA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PRKN Louise Daugherty reviewed gene: PRKN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PLA2G6 Louise Daugherty reviewed gene: PLA2G6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PINK1 Louise Daugherty reviewed gene: PINK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PFN1 Louise Daugherty reviewed gene: PFN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PDGFRB Louise Daugherty reviewed gene: PDGFRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PDGFB Louise Daugherty reviewed gene: PDGFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PARK7 Louise Daugherty reviewed gene: PARK7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PANK2 Louise Daugherty reviewed gene: PANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 OPTN Louise Daugherty reviewed gene: OPTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 NPC2 Louise Daugherty reviewed gene: NPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 NPC1 Louise Daugherty reviewed gene: NPC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 NOTCH3 Louise Daugherty reviewed gene: NOTCH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 NHLRC1 Louise Daugherty reviewed gene: NHLRC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KIAA1161 Louise Daugherty reviewed gene: KIAA1161: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 MAPT Louise Daugherty reviewed gene: MAPT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 LYST Louise Daugherty reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 LRRK2 Louise Daugherty reviewed gene: LRRK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KIF5A Louise Daugherty reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KCND3 Louise Daugherty reviewed gene: KCND3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KCNC3 Louise Daugherty reviewed gene: KCNC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ITM2B Louise Daugherty reviewed gene: ITM2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 HTRA2 Louise Daugherty reviewed gene: HTRA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 HTRA1 Louise Daugherty reviewed gene: HTRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 HNRNPA1 Louise Daugherty reviewed gene: HNRNPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 HEXB Louise Daugherty reviewed gene: HEXB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 HEXA Louise Daugherty reviewed gene: HEXA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GRN Louise Daugherty reviewed gene: GRN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GFAP Louise Daugherty reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GBA2 Louise Daugherty reviewed gene: GBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GBA Louise Daugherty reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FUS Louise Daugherty reviewed gene: FUS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FTL Louise Daugherty reviewed gene: FTL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FMR1 Louise Daugherty reviewed gene: FMR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FIG4 Louise Daugherty reviewed gene: FIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FBXO7 Louise Daugherty reviewed gene: FBXO7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 EPM2A Louise Daugherty reviewed gene: EPM2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ELOVL4 Louise Daugherty reviewed gene: ELOVL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 EIF2B5 Louise Daugherty reviewed gene: EIF2B5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 EIF2B4 Louise Daugherty reviewed gene: EIF2B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 EIF2B3 Louise Daugherty reviewed gene: EIF2B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 EIF2B2 Louise Daugherty reviewed gene: EIF2B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 EIF2B1 Louise Daugherty reviewed gene: EIF2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DNMT1 Louise Daugherty reviewed gene: DNMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DNAJC6 Louise Daugherty reviewed gene: DNAJC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DNAJC5 Louise Daugherty reviewed gene: DNAJC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DCTN1 Louise Daugherty reviewed gene: DCTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DARS2 Louise Daugherty reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CYP7B1 Louise Daugherty reviewed gene: CYP7B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CYP2U1 Louise Daugherty reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CYP27A1 Louise Daugherty reviewed gene: CYP27A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CSF1R Louise Daugherty reviewed gene: CSF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CP Louise Daugherty reviewed gene: CP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 COQ8A Louise Daugherty reviewed gene: COQ8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 COASY Louise Daugherty reviewed gene: COASY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CLN6 Louise Daugherty reviewed gene: CLN6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CLCN2 Louise Daugherty reviewed gene: CLCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CHMP2B Louise Daugherty reviewed gene: CHMP2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CHCHD2 Louise Daugherty commented on gene: CHCHD2: 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 v1.11 CCNF Louise Daugherty reviewed gene: CCNF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CAPN1 Louise Daugherty reviewed gene: CAPN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CACNA1G Louise Daugherty reviewed gene: CACNA1G: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 C19orf12 Louise Daugherty reviewed gene: C19orf12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ATXN7 Louise Daugherty commented on gene: ATXN7: 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 v1.11 ATP1A3 Louise Daugherty reviewed gene: ATP1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ATP13A2 Louise Daugherty reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ARSA Louise Daugherty reviewed gene: ARSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 APP Louise Daugherty reviewed gene: APP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ANG Louise Daugherty reviewed gene: ANG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ALS2 Louise Daugherty reviewed gene: ALS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 AFG3L2 Louise Daugherty reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ABCD1 Louise Daugherty reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ZFYVE26 James Polke reviewed gene: ZFYVE26: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 YY1 James Polke reviewed gene: YY1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 WWOX James Polke reviewed gene: WWOX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 WFS1 James Polke reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 WDR81 James Polke reviewed gene: WDR81: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 WDR73 James Polke reviewed gene: WDR73: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 WDR45B James Polke reviewed gene: WDR45B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 WASHC5 James Polke reviewed gene: WASHC5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 VRK1 James Polke reviewed gene: VRK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 VPS13D James Polke reviewed gene: VPS13D: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 VLDLR James Polke reviewed gene: VLDLR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 VAMP1 James Polke reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 VAC14 James Polke reviewed gene: VAC14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TWNK James Polke reviewed gene: TWNK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TTPA James Polke reviewed gene: TTPA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TTBK2 James Polke reviewed gene: TTBK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TSEN54 James Polke reviewed gene: TSEN54: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TSEN2 James Polke reviewed gene: TSEN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TPP1 James Polke reviewed gene: TPP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TIA1 James Polke reviewed gene: TIA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TOR1A James Polke reviewed gene: TOR1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 THAP1 James Polke reviewed gene: THAP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TH James Polke reviewed gene: TH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TGM6 James Polke reviewed gene: TGM6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SYNE1 James Polke reviewed gene: SYNE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 STUB1 James Polke reviewed gene: STUB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SRD5A3 James Polke reviewed gene: SRD5A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SPTBN2 James Polke reviewed gene: SPTBN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SPR James Polke reviewed gene: SPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SPG7 James Polke reviewed gene: SPG7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SPART James Polke reviewed gene: SPART: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SNX14 James Polke reviewed gene: SNX14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC9A6 James Polke reviewed gene: SLC9A6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC6A5 James Polke reviewed gene: SLC6A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC52A3 James Polke reviewed gene: SLC52A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC52A2 James Polke reviewed gene: SLC52A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC39A14 James Polke reviewed gene: SLC39A14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC2A1 James Polke reviewed gene: SLC2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC25A46 James Polke reviewed gene: SLC25A46: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC1A4 James Polke reviewed gene: SLC1A4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC1A3 James Polke reviewed gene: SLC1A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC16A2 James Polke reviewed gene: SLC16A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SIL1 James Polke reviewed gene: SIL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SERAC1 James Polke reviewed gene: SERAC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SEPSECS James Polke reviewed gene: SEPSECS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SCN8A James Polke reviewed gene: SCN8A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SCN1A James Polke reviewed gene: SCN1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SAR1B James Polke reviewed gene: SAR1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SACS James Polke reviewed gene: SACS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 RTN2 James Polke reviewed gene: RTN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 RNF170 James Polke reviewed gene: RNF170: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 REEP2 James Polke reviewed gene: REEP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 REEP1 James Polke reviewed gene: REEP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 RARS2 James Polke reviewed gene: RARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 RAB39B James Polke reviewed gene: RAB39B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PRRT2 James Polke reviewed gene: PRRT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PRKCG James Polke reviewed gene: PRKCG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 POLR3A James Polke reviewed gene: POLR3A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 POLG James Polke reviewed gene: POLG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PNPLA6 James Polke reviewed gene: PNPLA6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PNKP James Polke reviewed gene: PNKP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PNKD James Polke reviewed gene: PNKD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PMPCA James Polke reviewed gene: PMPCA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PLP1 James Polke reviewed gene: PLP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PEX16 James Polke reviewed gene: PEX16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PDYN James Polke reviewed gene: PDYN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PAX6 James Polke reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 OPHN1 James Polke reviewed gene: OPHN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 OPA3 James Polke reviewed gene: OPA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 NKX6-2 James Polke reviewed gene: NKX6-2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 NIPA1 James Polke reviewed gene: NIPA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 NEFH James Polke reviewed gene: NEFH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 MVK James Polke reviewed gene: MVK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 MTTP James Polke reviewed gene: MTTP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 MT-ATP6 James Polke reviewed gene: MT-ATP6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 MRE11 James Polke reviewed gene: MRE11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 MMACHC James Polke reviewed gene: MMACHC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 MECR James Polke reviewed gene: MECR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 MARS2 James Polke reviewed gene: MARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 MAG James Polke reviewed gene: MAG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 L1CAM James Polke reviewed gene: L1CAM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KMT2B James Polke reviewed gene: KMT2B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KIF1C James Polke reviewed gene: KIF1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KIF1A James Polke reviewed gene: KIF1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KIDINS220 James Polke reviewed gene: KIDINS220: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KDM5C James Polke reviewed gene: KDM5C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KCNQ3 James Polke reviewed gene: KCNQ3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KCNQ2 James Polke reviewed gene: KCNQ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KCNK18 James Polke reviewed gene: KCNK18: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KCNJ10 James Polke reviewed gene: KCNJ10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KCNA1 James Polke reviewed gene: KCNA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ITPR1 James Polke reviewed gene: ITPR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 IBA57 James Polke reviewed gene: IBA57: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 HSPD1 James Polke reviewed gene: HSPD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 HPCA James Polke reviewed gene: HPCA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 HACE1 James Polke reviewed gene: HACE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GRM1 James Polke reviewed gene: GRM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GRID2 James Polke reviewed gene: GRID2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GPAA1 James Polke reviewed gene: GPAA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GOSR2 James Polke reviewed gene: GOSR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GNAO1 James Polke reviewed gene: GNAO1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GNAL James Polke reviewed gene: GNAL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GLRB James Polke reviewed gene: GLRB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GLRA1 James Polke reviewed gene: GLRA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GJC2 James Polke reviewed gene: GJC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GCH1 James Polke reviewed gene: GCH1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 FXN James Polke reviewed gene: FXN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 FOLR1 James Polke reviewed gene: FOLR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 FLVCR1 James Polke reviewed gene: FLVCR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 FGF14 James Polke reviewed gene: FGF14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 FARS2 James Polke reviewed gene: FARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 FA2H James Polke reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 EXOSC3 James Polke reviewed gene: EXOSC3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ERLIN2 James Polke reviewed gene: ERLIN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 DNAJC19 James Polke reviewed gene: DNAJC19: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 DMXL2 James Polke reviewed gene: DMXL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 DDHD2 James Polke reviewed gene: DDHD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 DDHD1 James Polke reviewed gene: DDHD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 DCAF17 James Polke reviewed gene: DCAF17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 DARS James Polke reviewed gene: DARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CWF19L1 James Polke reviewed gene: CWF19L1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CSTB James Polke reviewed gene: CSTB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 COX20 James Polke reviewed gene: COX20: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 COG5 James Polke reviewed gene: COG5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CIZ1 James Polke reviewed gene: CIZ1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CHMP1A James Polke reviewed gene: CHMP1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CDK16 James Polke reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CASK James Polke reviewed gene: CASK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CAMTA1 James Polke reviewed gene: CAMTA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CACNB4 James Polke reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CACNA1A James Polke reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CA8 James Polke reviewed gene: CA8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 C12orf65 James Polke reviewed gene: C12orf65: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 BSCL2 James Polke reviewed gene: BSCL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 B4GALNT1 James Polke reviewed gene: B4GALNT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ATP7B James Polke reviewed gene: ATP7B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ATP1A2 James Polke reviewed gene: ATP1A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ATM James Polke reviewed gene: ATM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ATL1 James Polke reviewed gene: ATL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ATCAY James Polke reviewed gene: ATCAY: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ARG1 James Polke reviewed gene: ARG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 APTX James Polke reviewed gene: APTX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 AP4S1 James Polke reviewed gene: AP4S1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 AP4M1 James Polke reviewed gene: AP4M1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 AP4E1 James Polke reviewed gene: AP4E1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 AP4B1 James Polke reviewed gene: AP4B1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 AP1S2 James Polke reviewed gene: AP1S2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ANO3 James Polke reviewed gene: ANO3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ANO10 James Polke reviewed gene: ANO10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 AMPD2 James Polke reviewed gene: AMPD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ALDH18A1 James Polke reviewed gene: ALDH18A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 AIMP1 James Polke reviewed gene: AIMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ADCY5 James Polke reviewed gene: ADCY5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ADAR James Polke reviewed gene: ADAR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ABHD12 James Polke reviewed gene: ABHD12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ABCB7 James Polke reviewed gene: ABCB7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 AAAS James Polke reviewed gene: AAAS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CHCHD10 James Polke reviewed gene: CHCHD10: Rating: AMBER; Mode of pathogenicity: ; Publications: 30014597; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 XPR1 James Polke reviewed gene: XPR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 WDR45 James Polke reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 VPS35 James Polke reviewed gene: VPS35: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 VPS13A James Polke reviewed gene: VPS13A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 VCP James Polke reviewed gene: VCP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 VAPB James Polke reviewed gene: VAPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 UBQLN2 James Polke reviewed gene: UBQLN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 TYROBP James Polke reviewed gene: TYROBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 TUBB4A James Polke reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 TTC19 James Polke reviewed gene: TTC19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TREM2 James Polke reviewed gene: TREM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TMEM240 James Polke reviewed gene: TMEM240: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TBK1 James Polke reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TARDBP James Polke reviewed gene: TARDBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 TAF1 James Polke reviewed gene: TAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 SYNJ1 James Polke reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SQSTM1 James Polke reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SPG21 James Polke reviewed gene: SPG21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SPG11 James Polke reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SPAST James Polke reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SOD1 James Polke reviewed gene: SOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 SNCA James Polke reviewed gene: SNCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 SLC6A3 James Polke reviewed gene: SLC6A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC30A10 James Polke reviewed gene: SLC30A10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC20A2 James Polke reviewed gene: SLC20A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SIGMAR1 James Polke reviewed gene: SIGMAR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SGCE James Polke reviewed gene: SGCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 SETX James Polke reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 RNF216 James Polke reviewed gene: RNF216: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PSEN2 James Polke reviewed gene: PSEN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 PSEN1 James Polke reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 PRNP James Polke reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 PRKRA James Polke reviewed gene: PRKRA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PRKN James Polke reviewed gene: PRKN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 PLA2G6 James Polke reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 PINK1 James Polke reviewed gene: PINK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 PFN1 James Polke reviewed gene: PFN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PDGFRB James Polke reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PDGFB James Polke reviewed gene: PDGFB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PARK7 James Polke reviewed gene: PARK7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 PANK2 James Polke reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 OPTN James Polke reviewed gene: OPTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 NPC2 James Polke reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 NPC1 James Polke reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 NOTCH3 James Polke reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 NHLRC1 James Polke reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KIAA1161 James Polke reviewed gene: KIAA1161: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 MAPT James Polke reviewed gene: MAPT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 LYST James Polke reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 LRRK2 James Polke reviewed gene: LRRK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 KIF5A James Polke reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KCND3 James Polke reviewed gene: KCND3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KCNC3 James Polke reviewed gene: KCNC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ITM2B James Polke reviewed gene: ITM2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 HTRA2 James Polke reviewed gene: HTRA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 HTRA1 James Polke reviewed gene: HTRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 HNRNPA1 James Polke reviewed gene: HNRNPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 HEXB James Polke reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 HEXA James Polke reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GRN James Polke reviewed gene: GRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 GFAP James Polke reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GBA2 James Polke reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GBA James Polke reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 FUS James Polke reviewed gene: FUS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 FTL James Polke reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 FMR1 James Polke reviewed gene: FMR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 FIG4 James Polke reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 FBXO7 James Polke reviewed gene: FBXO7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 EPM2A James Polke reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ELOVL4 James Polke reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 EIF2B5 James Polke reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 EIF2B4 James Polke reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 EIF2B3 James Polke reviewed gene: EIF2B3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 EIF2B2 James Polke reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 EIF2B1 James Polke reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 DNMT1 James Polke reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 DNAJC6 James Polke reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 DNAJC5 James Polke reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 DCTN1 James Polke reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 DARS2 James Polke reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CYP7B1 James Polke reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CYP2U1 James Polke reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CYP27A1 James Polke reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CSF1R James Polke reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 CP James Polke reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 COQ8A James Polke reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 COASY James Polke reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CLN6 James Polke reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CLCN2 James Polke reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CHMP2B James Polke reviewed gene: CHMP2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 CHCHD2 James Polke reviewed gene: CHCHD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CCNF James Polke reviewed gene: CCNF: Rating: GREEN; Mode of pathogenicity: ; Publications: 27080313, 29102476, 30008669; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CAPN1 James Polke reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CACNA1G James Polke reviewed gene: CACNA1G: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 C19orf12 James Polke reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ATXN7 James Polke reviewed gene: ATXN7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 ATP1A3 James Polke reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 ATP13A2 James Polke reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ARSA James Polke reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 APP James Polke reviewed gene: APP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 ANG James Polke reviewed gene: ANG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 ALS2 James Polke reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 AFG3L2 James Polke reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ABCD1 James Polke reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.9 ZFYVE26 Louise Daugherty Source NHS GMS was added to ZFYVE26.
Adult onset neurodegenerative disorder v1.9 YY1 Louise Daugherty Source NHS GMS was added to YY1.
Adult onset neurodegenerative disorder v1.9 WWOX Louise Daugherty Source NHS GMS was added to WWOX.
Adult onset neurodegenerative disorder v1.9 WFS1 Louise Daugherty Source NHS GMS was added to WFS1.
Adult onset neurodegenerative disorder v1.9 WDR81 Louise Daugherty Source NHS GMS was added to WDR81.
Adult onset neurodegenerative disorder v1.9 WDR73 Louise Daugherty Source NHS GMS was added to WDR73.
Adult onset neurodegenerative disorder v1.9 WDR45B Louise Daugherty Source NHS GMS was added to WDR45B.
Adult onset neurodegenerative disorder v1.9 WASHC5 Louise Daugherty Source NHS GMS was added to WASHC5.
Adult onset neurodegenerative disorder v1.9 VRK1 Louise Daugherty Source NHS GMS was added to VRK1.
Adult onset neurodegenerative disorder v1.9 VPS13D Louise Daugherty Source NHS GMS was added to VPS13D.
Adult onset neurodegenerative disorder v1.9 VLDLR Louise Daugherty Source NHS GMS was added to VLDLR.
Adult onset neurodegenerative disorder v1.9 VAC14 Louise Daugherty Source NHS GMS was added to VAC14.
Adult onset neurodegenerative disorder v1.9 TWNK Louise Daugherty Source NHS GMS was added to TWNK.
Adult onset neurodegenerative disorder v1.9 TTPA Louise Daugherty Source NHS GMS was added to TTPA.
Adult onset neurodegenerative disorder v1.9 TTBK2 Louise Daugherty Source NHS GMS was added to TTBK2.
Adult onset neurodegenerative disorder v1.9 TSEN54 Louise Daugherty Source NHS GMS was added to TSEN54.
Adult onset neurodegenerative disorder v1.9 TSEN2 Louise Daugherty Source NHS GMS was added to TSEN2.
Adult onset neurodegenerative disorder v1.9 TPP1 Louise Daugherty Source NHS GMS was added to TPP1.
Adult onset neurodegenerative disorder v1.9 TIA1 Louise Daugherty Source NHS GMS was added to TIA1.
Adult onset neurodegenerative disorder v1.9 TOR1A Louise Daugherty Source NHS GMS was added to TOR1A.
Adult onset neurodegenerative disorder v1.9 THAP1 Louise Daugherty Source NHS GMS was added to THAP1.
Adult onset neurodegenerative disorder v1.9 TH Louise Daugherty Source NHS GMS was added to TH.
Adult onset neurodegenerative disorder v1.9 TGM6 Louise Daugherty Source NHS GMS was added to TGM6.
Adult onset neurodegenerative disorder v1.9 SYNE1 Louise Daugherty Source NHS GMS was added to SYNE1.
Adult onset neurodegenerative disorder v1.9 STUB1 Louise Daugherty Source NHS GMS was added to STUB1.
Adult onset neurodegenerative disorder v1.9 SRD5A3 Louise Daugherty Source NHS GMS was added to SRD5A3.
Adult onset neurodegenerative disorder v1.9 SPTBN2 Louise Daugherty Source NHS GMS was added to SPTBN2.
Adult onset neurodegenerative disorder v1.9 SPR Louise Daugherty Source NHS GMS was added to SPR.
Adult onset neurodegenerative disorder v1.9 SPG7 Louise Daugherty Source NHS GMS was added to SPG7.
Adult onset neurodegenerative disorder v1.9 SPART Louise Daugherty Source NHS GMS was added to SPART.
Adult onset neurodegenerative disorder v1.9 SNX14 Louise Daugherty Source NHS GMS was added to SNX14.
Adult onset neurodegenerative disorder v1.9 SLC9A6 Louise Daugherty Source NHS GMS was added to SLC9A6.
Adult onset neurodegenerative disorder v1.9 SLC6A5 Louise Daugherty Source NHS GMS was added to SLC6A5.
Adult onset neurodegenerative disorder v1.9 SLC52A3 Louise Daugherty Source NHS GMS was added to SLC52A3.
Adult onset neurodegenerative disorder v1.9 SLC52A2 Louise Daugherty Source NHS GMS was added to SLC52A2.
Adult onset neurodegenerative disorder v1.9 SLC39A14 Louise Daugherty Source NHS GMS was added to SLC39A14.
Adult onset neurodegenerative disorder v1.9 SLC2A1 Louise Daugherty Source NHS GMS was added to SLC2A1.
Adult onset neurodegenerative disorder v1.9 SLC25A46 Louise Daugherty Source NHS GMS was added to SLC25A46.
Adult onset neurodegenerative disorder v1.9 SLC1A4 Louise Daugherty Source NHS GMS was added to SLC1A4.
Adult onset neurodegenerative disorder v1.9 SLC1A3 Louise Daugherty Source NHS GMS was added to SLC1A3.
Adult onset neurodegenerative disorder v1.9 SLC16A2 Louise Daugherty Source NHS GMS was added to SLC16A2.
Adult onset neurodegenerative disorder v1.9 SIL1 Louise Daugherty Source NHS GMS was added to SIL1.
Adult onset neurodegenerative disorder v1.9 SERAC1 Louise Daugherty Source NHS GMS was added to SERAC1.
Adult onset neurodegenerative disorder v1.9 SEPSECS Louise Daugherty Source NHS GMS was added to SEPSECS.
Adult onset neurodegenerative disorder v1.9 SCN8A Louise Daugherty Source NHS GMS was added to SCN8A.
Adult onset neurodegenerative disorder v1.9 SCN1A Louise Daugherty Source NHS GMS was added to SCN1A.
Adult onset neurodegenerative disorder v1.9 SAR1B Louise Daugherty Source NHS GMS was added to SAR1B.
Adult onset neurodegenerative disorder v1.9 SACS Louise Daugherty Source NHS GMS was added to SACS.
Adult onset neurodegenerative disorder v1.9 RTN2 Louise Daugherty Source NHS GMS was added to RTN2.
Adult onset neurodegenerative disorder v1.9 RNF170 Louise Daugherty Source NHS GMS was added to RNF170.
Adult onset neurodegenerative disorder v1.9 REEP1 Louise Daugherty Source NHS GMS was added to REEP1.
Adult onset neurodegenerative disorder v1.9 RARS2 Louise Daugherty Source NHS GMS was added to RARS2.
Adult onset neurodegenerative disorder v1.9 RAB39B Louise Daugherty Source NHS GMS was added to RAB39B.
Adult onset neurodegenerative disorder v1.9 PRRT2 Louise Daugherty Source NHS GMS was added to PRRT2.
Adult onset neurodegenerative disorder v1.9 PRKCG Louise Daugherty Source NHS GMS was added to PRKCG.
Adult onset neurodegenerative disorder v1.9 POLR3A Louise Daugherty Source NHS GMS was added to POLR3A.
Adult onset neurodegenerative disorder v1.9 POLG Louise Daugherty Source NHS GMS was added to POLG.
Adult onset neurodegenerative disorder v1.9 PNPLA6 Louise Daugherty Source NHS GMS was added to PNPLA6.
Adult onset neurodegenerative disorder v1.9 PNKP Louise Daugherty Source NHS GMS was added to PNKP.
Adult onset neurodegenerative disorder v1.9 PNKD Louise Daugherty Source NHS GMS was added to PNKD.
Adult onset neurodegenerative disorder v1.9 PMPCA Louise Daugherty Source NHS GMS was added to PMPCA.
Adult onset neurodegenerative disorder v1.9 PLP1 Louise Daugherty Source NHS GMS was added to PLP1.
Adult onset neurodegenerative disorder v1.9 PEX16 Louise Daugherty Source NHS GMS was added to PEX16.
Adult onset neurodegenerative disorder v1.9 PDYN Louise Daugherty Source NHS GMS was added to PDYN.
Adult onset neurodegenerative disorder v1.9 PAX6 Louise Daugherty Source NHS GMS was added to PAX6.
Adult onset neurodegenerative disorder v1.9 OPHN1 Louise Daugherty Source NHS GMS was added to OPHN1.
Adult onset neurodegenerative disorder v1.9 OPA3 Louise Daugherty Source NHS GMS was added to OPA3.
Adult onset neurodegenerative disorder v1.9 NKX6-2 Louise Daugherty Source NHS GMS was added to NKX6-2.
Adult onset neurodegenerative disorder v1.9 NIPA1 Louise Daugherty Source NHS GMS was added to NIPA1.
Adult onset neurodegenerative disorder v1.9 MTTP Louise Daugherty Source NHS GMS was added to MTTP.
Adult onset neurodegenerative disorder v1.9 MT-ATP6 Louise Daugherty Source NHS GMS was added to MT-ATP6.
Adult onset neurodegenerative disorder v1.9 MRE11 Louise Daugherty Source NHS GMS was added to MRE11.
Adult onset neurodegenerative disorder v1.9 MMACHC Louise Daugherty Source NHS GMS was added to MMACHC.
Adult onset neurodegenerative disorder v1.9 MECR Louise Daugherty Source NHS GMS was added to MECR.
Adult onset neurodegenerative disorder v1.9 MARS2 Louise Daugherty Source NHS GMS was added to MARS2.
Adult onset neurodegenerative disorder v1.9 L1CAM Louise Daugherty Source NHS GMS was added to L1CAM.
Adult onset neurodegenerative disorder v1.9 KMT2B Louise Daugherty Source NHS GMS was added to KMT2B.
Adult onset neurodegenerative disorder v1.9 KIF1C Louise Daugherty Source NHS GMS was added to KIF1C.
Adult onset neurodegenerative disorder v1.9 KIF1A Louise Daugherty Source NHS GMS was added to KIF1A.
Adult onset neurodegenerative disorder v1.9 KIDINS220 Louise Daugherty Source NHS GMS was added to KIDINS220.
Adult onset neurodegenerative disorder v1.9 KCNQ3 Louise Daugherty Source NHS GMS was added to KCNQ3.
Adult onset neurodegenerative disorder v1.9 KCNQ2 Louise Daugherty Source NHS GMS was added to KCNQ2.
Adult onset neurodegenerative disorder v1.9 KCNJ10 Louise Daugherty Source NHS GMS was added to KCNJ10.
Adult onset neurodegenerative disorder v1.9 KCNA1 Louise Daugherty Source NHS GMS was added to KCNA1.
Adult onset neurodegenerative disorder v1.9 ITPR1 Louise Daugherty Source NHS GMS was added to ITPR1.
Adult onset neurodegenerative disorder v1.9 HSPD1 Louise Daugherty Source NHS GMS was added to HSPD1.
Adult onset neurodegenerative disorder v1.9 HPCA Louise Daugherty Source NHS GMS was added to HPCA.
Adult onset neurodegenerative disorder v1.9 HACE1 Louise Daugherty Source NHS GMS was added to HACE1.
Adult onset neurodegenerative disorder v1.9 GRM1 Louise Daugherty Source NHS GMS was added to GRM1.
Adult onset neurodegenerative disorder v1.9 GRID2 Louise Daugherty Source NHS GMS was added to GRID2.
Adult onset neurodegenerative disorder v1.9 GPAA1 Louise Daugherty Source NHS GMS was added to GPAA1.
Adult onset neurodegenerative disorder v1.9 GOSR2 Louise Daugherty Source NHS GMS was added to GOSR2.
Adult onset neurodegenerative disorder v1.9 GNAO1 Louise Daugherty Source NHS GMS was added to GNAO1.
Adult onset neurodegenerative disorder v1.9 GLRB Louise Daugherty Source NHS GMS was added to GLRB.
Adult onset neurodegenerative disorder v1.9 GLRA1 Louise Daugherty Source NHS GMS was added to GLRA1.
Adult onset neurodegenerative disorder v1.9 GJC2 Louise Daugherty Source NHS GMS was added to GJC2.
Adult onset neurodegenerative disorder v1.9 FXN Louise Daugherty Source NHS GMS was added to FXN.
Adult onset neurodegenerative disorder v1.9 FOLR1 Louise Daugherty Source NHS GMS was added to FOLR1.
Adult onset neurodegenerative disorder v1.9 FLVCR1 Louise Daugherty Source NHS GMS was added to FLVCR1.
Adult onset neurodegenerative disorder v1.9 FGF14 Louise Daugherty Source NHS GMS was added to FGF14.
Adult onset neurodegenerative disorder v1.9 FARS2 Louise Daugherty Source NHS GMS was added to FARS2.
Adult onset neurodegenerative disorder v1.9 FA2H Louise Daugherty Source NHS GMS was added to FA2H.
Adult onset neurodegenerative disorder v1.9 EXOSC3 Louise Daugherty Source NHS GMS was added to EXOSC3.
Adult onset neurodegenerative disorder v1.9 ERLIN2 Louise Daugherty Source NHS GMS was added to ERLIN2.
Adult onset neurodegenerative disorder v1.9 DNAJC19 Louise Daugherty Source NHS GMS was added to DNAJC19.
Adult onset neurodegenerative disorder v1.9 DDHD2 Louise Daugherty Source NHS GMS was added to DDHD2.
Adult onset neurodegenerative disorder v1.9 DDHD1 Louise Daugherty Source NHS GMS was added to DDHD1.
Adult onset neurodegenerative disorder v1.9 DCAF17 Louise Daugherty Source NHS GMS was added to DCAF17.
Adult onset neurodegenerative disorder v1.9 CWF19L1 Louise Daugherty Source NHS GMS was added to CWF19L1.
Adult onset neurodegenerative disorder v1.9 CSTB Louise Daugherty Source NHS GMS was added to CSTB.
Adult onset neurodegenerative disorder v1.9 COX20 Louise Daugherty Source NHS GMS was added to COX20.
Adult onset neurodegenerative disorder v1.9 CHMP1A Louise Daugherty Source NHS GMS was added to CHMP1A.
Adult onset neurodegenerative disorder v1.9 CASK Louise Daugherty Source NHS GMS was added to CASK.
Adult onset neurodegenerative disorder v1.9 CAMTA1 Louise Daugherty Source NHS GMS was added to CAMTA1.
Adult onset neurodegenerative disorder v1.9 CACNB4 Louise Daugherty Source NHS GMS was added to CACNB4.
Adult onset neurodegenerative disorder v1.9 CACNA1A Louise Daugherty Source NHS GMS was added to CACNA1A.
Adult onset neurodegenerative disorder v1.9 CA8 Louise Daugherty Source NHS GMS was added to CA8.
Adult onset neurodegenerative disorder v1.9 C12orf65 Louise Daugherty Source NHS GMS was added to C12orf65.
Adult onset neurodegenerative disorder v1.9 BSCL2 Louise Daugherty Source NHS GMS was added to BSCL2.
Adult onset neurodegenerative disorder v1.9 B4GALNT1 Louise Daugherty Source NHS GMS was added to B4GALNT1.
Adult onset neurodegenerative disorder v1.9 ATP7B Louise Daugherty Source NHS GMS was added to ATP7B.
Adult onset neurodegenerative disorder v1.9 ATP1A2 Louise Daugherty Source NHS GMS was added to ATP1A2.
Adult onset neurodegenerative disorder v1.9 ATM Louise Daugherty Source NHS GMS was added to ATM.
Adult onset neurodegenerative disorder v1.9 ATL1 Louise Daugherty Source NHS GMS was added to ATL1.
Adult onset neurodegenerative disorder v1.9 ATCAY Louise Daugherty Source NHS GMS was added to ATCAY.
Adult onset neurodegenerative disorder v1.9 ARG1 Louise Daugherty Source NHS GMS was added to ARG1.
Adult onset neurodegenerative disorder v1.9 APTX Louise Daugherty Source NHS GMS was added to APTX.
Adult onset neurodegenerative disorder v1.9 AP4S1 Louise Daugherty Source NHS GMS was added to AP4S1.
Adult onset neurodegenerative disorder v1.9 AP4M1 Louise Daugherty Source NHS GMS was added to AP4M1.
Adult onset neurodegenerative disorder v1.9 AP4E1 Louise Daugherty Source NHS GMS was added to AP4E1.
Adult onset neurodegenerative disorder v1.9 AP4B1 Louise Daugherty Source NHS GMS was added to AP4B1.
Adult onset neurodegenerative disorder v1.9 AP1S2 Louise Daugherty Source NHS GMS was added to AP1S2.
Adult onset neurodegenerative disorder v1.9 ANO3 Louise Daugherty Source NHS GMS was added to ANO3.
Adult onset neurodegenerative disorder v1.9 ANO10 Louise Daugherty Source NHS GMS was added to ANO10.
Adult onset neurodegenerative disorder v1.9 AMPD2 Louise Daugherty Source NHS GMS was added to AMPD2.
Adult onset neurodegenerative disorder v1.9 ALDH18A1 Louise Daugherty Source NHS GMS was added to ALDH18A1.
Adult onset neurodegenerative disorder v1.9 AIMP1 Louise Daugherty Source NHS GMS was added to AIMP1.
Adult onset neurodegenerative disorder v1.9 ADCY5 Louise Daugherty Source NHS GMS was added to ADCY5.
Adult onset neurodegenerative disorder v1.9 ADAR Louise Daugherty Source NHS GMS was added to ADAR.
Adult onset neurodegenerative disorder v1.9 ABHD12 Louise Daugherty Source NHS GMS was added to ABHD12.
Adult onset neurodegenerative disorder v1.9 ABCB7 Louise Daugherty Source NHS GMS was added to ABCB7.
Adult onset neurodegenerative disorder v1.9 AAAS Louise Daugherty Source NHS GMS was added to AAAS.
Adult onset neurodegenerative disorder v1.9 XPR1 Louise Daugherty Source NHS GMS was added to XPR1.
Adult onset neurodegenerative disorder v1.9 WDR45 Louise Daugherty Source NHS GMS was added to WDR45.
Adult onset neurodegenerative disorder v1.9 VPS35 Louise Daugherty Source NHS GMS was added to VPS35.
Adult onset neurodegenerative disorder v1.9 VPS13A Louise Daugherty Source NHS GMS was added to VPS13A.
Adult onset neurodegenerative disorder v1.9 VCP Louise Daugherty Source NHS GMS was added to VCP.
Adult onset neurodegenerative disorder v1.9 VAPB Louise Daugherty Source NHS GMS was added to VAPB.
Adult onset neurodegenerative disorder v1.9 UBQLN2 Louise Daugherty Source NHS GMS was added to UBQLN2.
Adult onset neurodegenerative disorder v1.9 TYROBP Louise Daugherty Source NHS GMS was added to TYROBP.
Adult onset neurodegenerative disorder v1.9 TUBB4A Louise Daugherty Source NHS GMS was added to TUBB4A.
Adult onset neurodegenerative disorder v1.9 TTC19 Louise Daugherty Source NHS GMS was added to TTC19.
Adult onset neurodegenerative disorder v1.9 TREM2 Louise Daugherty Source NHS GMS was added to TREM2.
Adult onset neurodegenerative disorder v1.9 TMEM240 Louise Daugherty Source NHS GMS was added to TMEM240.
Adult onset neurodegenerative disorder v1.9 TBK1 Louise Daugherty Source NHS GMS was added to TBK1.
Adult onset neurodegenerative disorder v1.9 TARDBP Louise Daugherty Source NHS GMS was added to TARDBP.
Adult onset neurodegenerative disorder v1.9 TAF1 Louise Daugherty Source NHS GMS was added to TAF1.
Adult onset neurodegenerative disorder v1.9 SYNJ1 Louise Daugherty Source NHS GMS was added to SYNJ1.
Adult onset neurodegenerative disorder v1.9 SQSTM1 Louise Daugherty Source NHS GMS was added to SQSTM1.
Adult onset neurodegenerative disorder v1.9 SPG21 Louise Daugherty Source NHS GMS was added to SPG21.
Adult onset neurodegenerative disorder v1.9 SPG11 Louise Daugherty Source NHS GMS was added to SPG11.
Adult onset neurodegenerative disorder v1.9 SPAST Louise Daugherty Source NHS GMS was added to SPAST.
Adult onset neurodegenerative disorder v1.9 SOD1 Louise Daugherty Source NHS GMS was added to SOD1.
Adult onset neurodegenerative disorder v1.9 SNCA Louise Daugherty Source NHS GMS was added to SNCA.
Adult onset neurodegenerative disorder v1.9 SLC6A3 Louise Daugherty Source NHS GMS was added to SLC6A3.
Adult onset neurodegenerative disorder v1.9 SLC30A10 Louise Daugherty Source NHS GMS was added to SLC30A10.
Adult onset neurodegenerative disorder v1.9 SLC20A2 Louise Daugherty Source NHS GMS was added to SLC20A2.
Adult onset neurodegenerative disorder v1.9 SIGMAR1 Louise Daugherty Source NHS GMS was added to SIGMAR1.
Adult onset neurodegenerative disorder v1.9 SGCE Louise Daugherty Source NHS GMS was added to SGCE.
Adult onset neurodegenerative disorder v1.9 SETX Louise Daugherty Source NHS GMS was added to SETX.
Adult onset neurodegenerative disorder v1.9 RNF216 Louise Daugherty Source NHS GMS was added to RNF216.
Adult onset neurodegenerative disorder v1.9 PSEN2 Louise Daugherty Source NHS GMS was added to PSEN2.
Adult onset neurodegenerative disorder v1.9 PSEN1 Louise Daugherty Source NHS GMS was added to PSEN1.
Adult onset neurodegenerative disorder v1.9 PRNP Louise Daugherty Source NHS GMS was added to PRNP.
Adult onset neurodegenerative disorder v1.9 PRKRA Louise Daugherty Source NHS GMS was added to PRKRA.
Adult onset neurodegenerative disorder v1.9 PRKN Louise Daugherty Source NHS GMS was added to PRKN.
Adult onset neurodegenerative disorder v1.9 PLA2G6 Louise Daugherty Source NHS GMS was added to PLA2G6.
Adult onset neurodegenerative disorder v1.9 PINK1 Louise Daugherty Source NHS GMS was added to PINK1.
Adult onset neurodegenerative disorder v1.9 PFN1 Louise Daugherty Source NHS GMS was added to PFN1.
Adult onset neurodegenerative disorder v1.9 PDGFRB Louise Daugherty Source NHS GMS was added to PDGFRB.
Adult onset neurodegenerative disorder v1.9 PDGFB Louise Daugherty Source NHS GMS was added to PDGFB.
Adult onset neurodegenerative disorder v1.9 PARK7 Louise Daugherty Source NHS GMS was added to PARK7.
Adult onset neurodegenerative disorder v1.9 PANK2 Louise Daugherty Source NHS GMS was added to PANK2.
Adult onset neurodegenerative disorder v1.9 OPTN Louise Daugherty Source NHS GMS was added to OPTN.
Adult onset neurodegenerative disorder v1.9 NPC2 Louise Daugherty Source NHS GMS was added to NPC2.
Adult onset neurodegenerative disorder v1.9 NPC1 Louise Daugherty Source NHS GMS was added to NPC1.
Adult onset neurodegenerative disorder v1.9 NOTCH3 Louise Daugherty Source NHS GMS was added to NOTCH3.
Adult onset neurodegenerative disorder v1.9 NHLRC1 Louise Daugherty Source NHS GMS was added to NHLRC1.
Adult onset neurodegenerative disorder v1.9 KIAA1161 Louise Daugherty Source NHS GMS was added to KIAA1161.
Adult onset neurodegenerative disorder v1.9 MAPT Louise Daugherty Source NHS GMS was added to MAPT.
Adult onset neurodegenerative disorder v1.9 LYST Louise Daugherty Source NHS GMS was added to LYST.
Adult onset neurodegenerative disorder v1.9 LRRK2 Louise Daugherty Source NHS GMS was added to LRRK2.
Adult onset neurodegenerative disorder v1.9 KIF5A Louise Daugherty Source NHS GMS was added to KIF5A.
Adult onset neurodegenerative disorder v1.9 KCND3 Louise Daugherty Source NHS GMS was added to KCND3.
Adult onset neurodegenerative disorder v1.9 KCNC3 Louise Daugherty Source NHS GMS was added to KCNC3.
Adult onset neurodegenerative disorder v1.9 ITM2B Louise Daugherty Source NHS GMS was added to ITM2B.
Adult onset neurodegenerative disorder v1.9 HTRA2 Louise Daugherty Source NHS GMS was added to HTRA2.
Adult onset neurodegenerative disorder v1.9 HTRA1 Louise Daugherty Source NHS GMS was added to HTRA1.
Adult onset neurodegenerative disorder v1.9 HNRNPA1 Louise Daugherty Source NHS GMS was added to HNRNPA1.
Adult onset neurodegenerative disorder v1.9 HEXB Louise Daugherty Source NHS GMS was added to HEXB.
Adult onset neurodegenerative disorder v1.9 HEXA Louise Daugherty Source NHS GMS was added to HEXA.
Adult onset neurodegenerative disorder v1.9 GRN Louise Daugherty Source NHS GMS was added to GRN.
Adult onset neurodegenerative disorder v1.9 GFAP Louise Daugherty Source NHS GMS was added to GFAP.
Adult onset neurodegenerative disorder v1.9 GBA2 Louise Daugherty Source NHS GMS was added to GBA2.
Adult onset neurodegenerative disorder v1.9 GBA Louise Daugherty Source NHS GMS was added to GBA.
Adult onset neurodegenerative disorder v1.9 FUS Louise Daugherty Source NHS GMS was added to FUS.
Adult onset neurodegenerative disorder v1.9 FTL Louise Daugherty Source NHS GMS was added to FTL.
Adult onset neurodegenerative disorder v1.9 FMR1 Louise Daugherty Source NHS GMS was added to FMR1.
Adult onset neurodegenerative disorder v1.9 FIG4 Louise Daugherty Source NHS GMS was added to FIG4.
Adult onset neurodegenerative disorder v1.9 FBXO7 Louise Daugherty Source NHS GMS was added to FBXO7.
Adult onset neurodegenerative disorder v1.9 EPM2A Louise Daugherty Source NHS GMS was added to EPM2A.
Adult onset neurodegenerative disorder v1.9 ELOVL4 Louise Daugherty Source NHS GMS was added to ELOVL4.
Adult onset neurodegenerative disorder v1.9 EIF2B5 Louise Daugherty Source NHS GMS was added to EIF2B5.
Adult onset neurodegenerative disorder v1.9 EIF2B4 Louise Daugherty Source NHS GMS was added to EIF2B4.
Adult onset neurodegenerative disorder v1.9 EIF2B3 Louise Daugherty Source NHS GMS was added to EIF2B3.
Adult onset neurodegenerative disorder v1.9 EIF2B2 Louise Daugherty Source NHS GMS was added to EIF2B2.
Adult onset neurodegenerative disorder v1.9 EIF2B1 Louise Daugherty Source NHS GMS was added to EIF2B1.
Adult onset neurodegenerative disorder v1.9 DNMT1 Louise Daugherty Source NHS GMS was added to DNMT1.
Adult onset neurodegenerative disorder v1.9 DNAJC6 Louise Daugherty Source NHS GMS was added to DNAJC6.
Adult onset neurodegenerative disorder v1.9 DNAJC5 Louise Daugherty Source NHS GMS was added to DNAJC5.
Adult onset neurodegenerative disorder v1.9 DCTN1 Louise Daugherty Source NHS GMS was added to DCTN1.
Adult onset neurodegenerative disorder v1.9 DARS2 Louise Daugherty Source NHS GMS was added to DARS2.
Adult onset neurodegenerative disorder v1.9 CYP7B1 Louise Daugherty Source NHS GMS was added to CYP7B1.
Adult onset neurodegenerative disorder v1.9 CYP2U1 Louise Daugherty Source NHS GMS was added to CYP2U1.
Adult onset neurodegenerative disorder v1.9 CYP27A1 Louise Daugherty Source NHS GMS was added to CYP27A1.
Adult onset neurodegenerative disorder v1.9 CSF1R Louise Daugherty Source NHS GMS was added to CSF1R.
Adult onset neurodegenerative disorder v1.9 CP Louise Daugherty Source NHS GMS was added to CP.
Adult onset neurodegenerative disorder v1.9 COQ8A Louise Daugherty Source NHS GMS was added to COQ8A.
Adult onset neurodegenerative disorder v1.9 COASY Louise Daugherty Source NHS GMS was added to COASY.
Adult onset neurodegenerative disorder v1.9 CLN6 Louise Daugherty Source NHS GMS was added to CLN6.
Adult onset neurodegenerative disorder v1.9 CLCN2 Louise Daugherty Source NHS GMS was added to CLCN2.
Adult onset neurodegenerative disorder v1.9 CHMP2B Louise Daugherty Source NHS GMS was added to CHMP2B.
Adult onset neurodegenerative disorder v1.9 CCNF Louise Daugherty Source NHS GMS was added to CCNF.
Adult onset neurodegenerative disorder v1.9 CAPN1 Louise Daugherty Source NHS GMS was added to CAPN1.
Adult onset neurodegenerative disorder v1.9 CACNA1G Louise Daugherty Source NHS GMS was added to CACNA1G.
Adult onset neurodegenerative disorder v1.9 C19orf12 Louise Daugherty Source NHS GMS was added to C19orf12.
Adult onset neurodegenerative disorder v1.9 ATP1A3 Louise Daugherty Source NHS GMS was added to ATP1A3.
Adult onset neurodegenerative disorder v1.9 ATP13A2 Louise Daugherty Source NHS GMS was added to ATP13A2.
Adult onset neurodegenerative disorder v1.9 ARSA Louise Daugherty Source NHS GMS was added to ARSA.
Adult onset neurodegenerative disorder v1.9 APP Louise Daugherty Source NHS GMS was added to APP.
Adult onset neurodegenerative disorder v1.9 ANG Louise Daugherty Source NHS GMS was added to ANG.
Adult onset neurodegenerative disorder v1.9 ALS2 Louise Daugherty Source NHS GMS was added to ALS2.
Adult onset neurodegenerative disorder v1.9 AFG3L2 Louise Daugherty Source NHS GMS was added to AFG3L2.
Adult onset neurodegenerative disorder v1.9 ABCD1 Louise Daugherty Source NHS GMS was added to ABCD1.
Adult onset neurodegenerative disorder v1.8 ZFYVE26 Louise Daugherty Source London North GLH was added to ZFYVE26.
Adult onset neurodegenerative disorder v1.8 YY1 Louise Daugherty Source London North GLH was added to YY1.
Adult onset neurodegenerative disorder v1.8 WWOX Louise Daugherty Source London North GLH was added to WWOX.
Adult onset neurodegenerative disorder v1.8 WFS1 Louise Daugherty Source London North GLH was added to WFS1.
Adult onset neurodegenerative disorder v1.8 WDR81 Louise Daugherty Source London North GLH was added to WDR81.
Adult onset neurodegenerative disorder v1.8 WDR73 Louise Daugherty Source London North GLH was added to WDR73.
Adult onset neurodegenerative disorder v1.8 WDR45B Louise Daugherty Source London North GLH was added to WDR45B.
Adult onset neurodegenerative disorder v1.8 WASHC5 Louise Daugherty Source London North GLH was added to WASHC5.
Adult onset neurodegenerative disorder v1.8 VRK1 Louise Daugherty Source London North GLH was added to VRK1.
Adult onset neurodegenerative disorder v1.8 VPS13D Louise Daugherty Source London North GLH was added to VPS13D.
Adult onset neurodegenerative disorder v1.8 VLDLR Louise Daugherty Source London North GLH was added to VLDLR.
Adult onset neurodegenerative disorder v1.8 VAMP1 Louise Daugherty Source London North GLH was added to VAMP1.
Adult onset neurodegenerative disorder v1.8 VAC14 Louise Daugherty Source London North GLH was added to VAC14.
Adult onset neurodegenerative disorder v1.8 TWNK Louise Daugherty Source London North GLH was added to TWNK.
Adult onset neurodegenerative disorder v1.8 TTPA Louise Daugherty Source London North GLH was added to TTPA.
Adult onset neurodegenerative disorder v1.8 TTBK2 Louise Daugherty Source London North GLH was added to TTBK2.
Adult onset neurodegenerative disorder v1.8 TSEN54 Louise Daugherty Source London North GLH was added to TSEN54.
Adult onset neurodegenerative disorder v1.8 TSEN2 Louise Daugherty Source London North GLH was added to TSEN2.
Adult onset neurodegenerative disorder v1.8 TPP1 Louise Daugherty Source London North GLH was added to TPP1.
Adult onset neurodegenerative disorder v1.8 TIA1 Louise Daugherty gene: TIA1 was added
gene: TIA1 was added to Neurodegenerative disorders - adult onset. Sources: London North GLH
Mode of inheritance for gene: TIA1 was set to
Adult onset neurodegenerative disorder v1.8 TOR1A Louise Daugherty Source London North GLH was added to TOR1A.
Adult onset neurodegenerative disorder v1.8 THAP1 Louise Daugherty Source London North GLH was added to THAP1.
Adult onset neurodegenerative disorder v1.8 TH Louise Daugherty Source London North GLH was added to TH.
Adult onset neurodegenerative disorder v1.8 TGM6 Louise Daugherty Source London North GLH was added to TGM6.
Adult onset neurodegenerative disorder v1.8 SYNE1 Louise Daugherty Source London North GLH was added to SYNE1.
Adult onset neurodegenerative disorder v1.8 STUB1 Louise Daugherty Source London North GLH was added to STUB1.
Adult onset neurodegenerative disorder v1.8 SRD5A3 Louise Daugherty Source London North GLH was added to SRD5A3.
Adult onset neurodegenerative disorder v1.8 SPTBN2 Louise Daugherty Source London North GLH was added to SPTBN2.
Adult onset neurodegenerative disorder v1.8 SPR Louise Daugherty Source London North GLH was added to SPR.
Adult onset neurodegenerative disorder v1.8 SPG7 Louise Daugherty Source London North GLH was added to SPG7.
Adult onset neurodegenerative disorder v1.8 SPART Louise Daugherty Source London North GLH was added to SPART.
Adult onset neurodegenerative disorder v1.8 SNX14 Louise Daugherty Source London North GLH was added to SNX14.
Adult onset neurodegenerative disorder v1.8 SLC9A6 Louise Daugherty Source London North GLH was added to SLC9A6.
Adult onset neurodegenerative disorder v1.8 SLC6A5 Louise Daugherty Source London North GLH was added to SLC6A5.
Adult onset neurodegenerative disorder v1.8 SLC52A3 Louise Daugherty Source London North GLH was added to SLC52A3.
Adult onset neurodegenerative disorder v1.8 SLC52A2 Louise Daugherty Source London North GLH was added to SLC52A2.
Adult onset neurodegenerative disorder v1.8 SLC39A14 Louise Daugherty Source London North GLH was added to SLC39A14.
Adult onset neurodegenerative disorder v1.8 SLC2A1 Louise Daugherty Source London North GLH was added to SLC2A1.
Adult onset neurodegenerative disorder v1.8 SLC25A46 Louise Daugherty Source London North GLH was added to SLC25A46.
Adult onset neurodegenerative disorder v1.8 SLC1A4 Louise Daugherty Source London North GLH was added to SLC1A4.
Adult onset neurodegenerative disorder v1.8 SLC1A3 Louise Daugherty Source London North GLH was added to SLC1A3.
Adult onset neurodegenerative disorder v1.8 SLC16A2 Louise Daugherty Source London North GLH was added to SLC16A2.
Adult onset neurodegenerative disorder v1.8 SIL1 Louise Daugherty Source London North GLH was added to SIL1.
Adult onset neurodegenerative disorder v1.8 SERAC1 Louise Daugherty Source London North GLH was added to SERAC1.
Adult onset neurodegenerative disorder v1.8 SEPSECS Louise Daugherty Source London North GLH was added to SEPSECS.
Adult onset neurodegenerative disorder v1.8 SCN8A Louise Daugherty Source London North GLH was added to SCN8A.
Adult onset neurodegenerative disorder v1.8 SCN1A Louise Daugherty Source London North GLH was added to SCN1A.
Adult onset neurodegenerative disorder v1.8 SAR1B Louise Daugherty Source London North GLH was added to SAR1B.
Adult onset neurodegenerative disorder v1.8 SACS Louise Daugherty Source London North GLH was added to SACS.
Adult onset neurodegenerative disorder v1.8 RTN2 Louise Daugherty Source London North GLH was added to RTN2.
Adult onset neurodegenerative disorder v1.8 RNF170 Louise Daugherty Source London North GLH was added to RNF170.
Adult onset neurodegenerative disorder v1.8 REEP2 Louise Daugherty Source London North GLH was added to REEP2.
Adult onset neurodegenerative disorder v1.8 REEP1 Louise Daugherty Source London North GLH was added to REEP1.
Adult onset neurodegenerative disorder v1.8 RARS2 Louise Daugherty Source London North GLH was added to RARS2.
Adult onset neurodegenerative disorder v1.8 RAB39B Louise Daugherty Source London North GLH was added to RAB39B.
Adult onset neurodegenerative disorder v1.8 PRRT2 Louise Daugherty Source London North GLH was added to PRRT2.
Adult onset neurodegenerative disorder v1.8 PRKCG Louise Daugherty Source London North GLH was added to PRKCG.
Adult onset neurodegenerative disorder v1.8 POLR3A Louise Daugherty Source London North GLH was added to POLR3A.
Adult onset neurodegenerative disorder v1.8 POLG Louise Daugherty Source London North GLH was added to POLG.
Adult onset neurodegenerative disorder v1.8 PNPLA6 Louise Daugherty Source London North GLH was added to PNPLA6.
Adult onset neurodegenerative disorder v1.8 PNKP Louise Daugherty Source London North GLH was added to PNKP.
Adult onset neurodegenerative disorder v1.8 PNKD Louise Daugherty Source London North GLH was added to PNKD.
Adult onset neurodegenerative disorder v1.8 PMPCA Louise Daugherty Source London North GLH was added to PMPCA.
Adult onset neurodegenerative disorder v1.8 PLP1 Louise Daugherty Source London North GLH was added to PLP1.
Adult onset neurodegenerative disorder v1.8 PEX16 Louise Daugherty Source London North GLH was added to PEX16.
Adult onset neurodegenerative disorder v1.8 PDYN Louise Daugherty Source London North GLH was added to PDYN.
Adult onset neurodegenerative disorder v1.8 PAX6 Louise Daugherty Source London North GLH was added to PAX6.
Adult onset neurodegenerative disorder v1.8 OPHN1 Louise Daugherty Source London North GLH was added to OPHN1.
Adult onset neurodegenerative disorder v1.8 OPA3 Louise Daugherty Source London North GLH was added to OPA3.
Adult onset neurodegenerative disorder v1.8 NKX6-2 Louise Daugherty Source London North GLH was added to NKX6-2.
Adult onset neurodegenerative disorder v1.8 NIPA1 Louise Daugherty Source London North GLH was added to NIPA1.
Adult onset neurodegenerative disorder v1.8 NEFH Louise Daugherty Source London North GLH was added to NEFH.
Adult onset neurodegenerative disorder v1.8 MVK Louise Daugherty Source London North GLH was added to MVK.
Adult onset neurodegenerative disorder v1.8 MTTP Louise Daugherty Source London North GLH was added to MTTP.
Adult onset neurodegenerative disorder v1.8 MT-ATP6 Louise Daugherty Source London North GLH was added to MT-ATP6.
Adult onset neurodegenerative disorder v1.8 MRE11 Louise Daugherty Source London North GLH was added to MRE11.
Adult onset neurodegenerative disorder v1.8 MMACHC Louise Daugherty Source London North GLH was added to MMACHC.
Adult onset neurodegenerative disorder v1.8 MECR Louise Daugherty Source London North GLH was added to MECR.
Adult onset neurodegenerative disorder v1.8 MARS2 Louise Daugherty Source London North GLH was added to MARS2.
Adult onset neurodegenerative disorder v1.8 MAG Louise Daugherty Source London North GLH was added to MAG.
Adult onset neurodegenerative disorder v1.8 L1CAM Louise Daugherty Source London North GLH was added to L1CAM.
Adult onset neurodegenerative disorder v1.8 KMT2B Louise Daugherty Source London North GLH was added to KMT2B.
Adult onset neurodegenerative disorder v1.8 KIF1C Louise Daugherty Source London North GLH was added to KIF1C.
Adult onset neurodegenerative disorder v1.8 KIF1A Louise Daugherty Source London North GLH was added to KIF1A.
Adult onset neurodegenerative disorder v1.8 KIDINS220 Louise Daugherty Source London North GLH was added to KIDINS220.
Adult onset neurodegenerative disorder v1.8 KDM5C Louise Daugherty Source London North GLH was added to KDM5C.
Adult onset neurodegenerative disorder v1.8 KCNQ3 Louise Daugherty Source London North GLH was added to KCNQ3.
Adult onset neurodegenerative disorder v1.8 KCNQ2 Louise Daugherty Source London North GLH was added to KCNQ2.
Adult onset neurodegenerative disorder v1.8 KCNK18 Louise Daugherty Source London North GLH was added to KCNK18.
Adult onset neurodegenerative disorder v1.8 KCNJ10 Louise Daugherty Source London North GLH was added to KCNJ10.
Adult onset neurodegenerative disorder v1.8 KCNA1 Louise Daugherty Source London North GLH was added to KCNA1.
Adult onset neurodegenerative disorder v1.8 ITPR1 Louise Daugherty Source London North GLH was added to ITPR1.
Adult onset neurodegenerative disorder v1.8 IBA57 Louise Daugherty Source London North GLH was added to IBA57.
Adult onset neurodegenerative disorder v1.8 HSPD1 Louise Daugherty Source London North GLH was added to HSPD1.
Adult onset neurodegenerative disorder v1.8 HPCA Louise Daugherty Source London North GLH was added to HPCA.
Adult onset neurodegenerative disorder v1.8 HACE1 Louise Daugherty Source London North GLH was added to HACE1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v1.8 GRM1 Louise Daugherty Source London North GLH was added to GRM1.
Adult onset neurodegenerative disorder v1.8 GRID2 Louise Daugherty Source London North GLH was added to GRID2.
Adult onset neurodegenerative disorder v1.8 GPAA1 Louise Daugherty Source London North GLH was added to GPAA1.
Adult onset neurodegenerative disorder v1.8 GOSR2 Louise Daugherty Source London North GLH was added to GOSR2.
Adult onset neurodegenerative disorder v1.8 GNAO1 Louise Daugherty Source London North GLH was added to GNAO1.
Adult onset neurodegenerative disorder v1.8 GNAL Louise Daugherty Source London North GLH was added to GNAL.
Adult onset neurodegenerative disorder v1.8 GLRB Louise Daugherty Source London North GLH was added to GLRB.
Adult onset neurodegenerative disorder v1.8 GLRA1 Louise Daugherty Source London North GLH was added to GLRA1.
Adult onset neurodegenerative disorder v1.8 GJC2 Louise Daugherty Source London North GLH was added to GJC2.
Adult onset neurodegenerative disorder v1.8 GCH1 Louise Daugherty Source London North GLH was added to GCH1.
Adult onset neurodegenerative disorder v1.8 FXN Louise Daugherty Source London North GLH was added to FXN.
Adult onset neurodegenerative disorder v1.8 FOLR1 Louise Daugherty Source London North GLH was added to FOLR1.
Adult onset neurodegenerative disorder v1.8 FLVCR1 Louise Daugherty Source London North GLH was added to FLVCR1.
Adult onset neurodegenerative disorder v1.8 FGF14 Louise Daugherty Source London North GLH was added to FGF14.
Adult onset neurodegenerative disorder v1.8 FARS2 Louise Daugherty Source London North GLH was added to FARS2.
Adult onset neurodegenerative disorder v1.8 FA2H Louise Daugherty Source London North GLH was added to FA2H.
Adult onset neurodegenerative disorder v1.8 EXOSC3 Louise Daugherty Source London North GLH was added to EXOSC3.
Adult onset neurodegenerative disorder v1.8 ERLIN2 Louise Daugherty Source London North GLH was added to ERLIN2.
Adult onset neurodegenerative disorder v1.8 DNAJC19 Louise Daugherty Source London North GLH was added to DNAJC19.
Adult onset neurodegenerative disorder v1.8 DMXL2 Louise Daugherty Source London North GLH was added to DMXL2.
Adult onset neurodegenerative disorder v1.8 DDHD2 Louise Daugherty Source London North GLH was added to DDHD2.
Adult onset neurodegenerative disorder v1.8 DDHD1 Louise Daugherty Source London North GLH was added to DDHD1.
Adult onset neurodegenerative disorder v1.8 DCAF17 Louise Daugherty Source London North GLH was added to DCAF17.
Adult onset neurodegenerative disorder v1.8 DARS Louise Daugherty Source London North GLH was added to DARS.
Adult onset neurodegenerative disorder v1.8 CWF19L1 Louise Daugherty Source London North GLH was added to CWF19L1.
Adult onset neurodegenerative disorder v1.8 CSTB Louise Daugherty Source London North GLH was added to CSTB.
Adult onset neurodegenerative disorder v1.8 COX20 Louise Daugherty Source London North GLH was added to COX20.
Adult onset neurodegenerative disorder v1.8 COG5 Louise Daugherty Source London North GLH was added to COG5.
Adult onset neurodegenerative disorder v1.8 CIZ1 Louise Daugherty Source London North GLH was added to CIZ1.
Adult onset neurodegenerative disorder v1.8 CHMP1A Louise Daugherty Source London North GLH was added to CHMP1A.
Adult onset neurodegenerative disorder v1.8 CDK16 Louise Daugherty Source London North GLH was added to CDK16.
Adult onset neurodegenerative disorder v1.8 CASK Louise Daugherty Source London North GLH was added to CASK.
Adult onset neurodegenerative disorder v1.8 CAMTA1 Louise Daugherty Source London North GLH was added to CAMTA1.
Adult onset neurodegenerative disorder v1.8 CACNB4 Louise Daugherty Source London North GLH was added to CACNB4.
Adult onset neurodegenerative disorder v1.8 CACNA1A Louise Daugherty Source London North GLH was added to CACNA1A.
Adult onset neurodegenerative disorder v1.8 CA8 Louise Daugherty Source London North GLH was added to CA8.
Adult onset neurodegenerative disorder v1.8 C12orf65 Louise Daugherty Source London North GLH was added to C12orf65.
Adult onset neurodegenerative disorder v1.8 BSCL2 Louise Daugherty Source London North GLH was added to BSCL2.
Adult onset neurodegenerative disorder v1.8 B4GALNT1 Louise Daugherty Source London North GLH was added to B4GALNT1.
Adult onset neurodegenerative disorder v1.8 ATP7B Louise Daugherty Source London North GLH was added to ATP7B.
Adult onset neurodegenerative disorder v1.8 ATP1A2 Louise Daugherty Source London North GLH was added to ATP1A2.
Adult onset neurodegenerative disorder v1.8 ATM Louise Daugherty Source London North GLH was added to ATM.
Adult onset neurodegenerative disorder v1.8 ATL1 Louise Daugherty Source London North GLH was added to ATL1.
Adult onset neurodegenerative disorder v1.8 ATCAY Louise Daugherty Source London North GLH was added to ATCAY.
Adult onset neurodegenerative disorder v1.8 ARG1 Louise Daugherty Source London North GLH was added to ARG1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v1.8 APTX Louise Daugherty Source London North GLH was added to APTX.
Adult onset neurodegenerative disorder v1.8 AP4S1 Louise Daugherty Source London North GLH was added to AP4S1.
Adult onset neurodegenerative disorder v1.8 AP4M1 Louise Daugherty Source London North GLH was added to AP4M1.
Adult onset neurodegenerative disorder v1.8 AP4E1 Louise Daugherty Source London North GLH was added to AP4E1.
Adult onset neurodegenerative disorder v1.8 AP4B1 Louise Daugherty Source London North GLH was added to AP4B1.
Adult onset neurodegenerative disorder v1.8 AP1S2 Louise Daugherty Source London North GLH was added to AP1S2.
Adult onset neurodegenerative disorder v1.8 ANO3 Louise Daugherty Source London North GLH was added to ANO3.
Adult onset neurodegenerative disorder v1.8 ANO10 Louise Daugherty Source London North GLH was added to ANO10.
Adult onset neurodegenerative disorder v1.8 AMPD2 Louise Daugherty Source London North GLH was added to AMPD2.
Adult onset neurodegenerative disorder v1.8 ALDH18A1 Louise Daugherty Source London North GLH was added to ALDH18A1.
Adult onset neurodegenerative disorder v1.8 AIMP1 Louise Daugherty Source London North GLH was added to AIMP1.
Adult onset neurodegenerative disorder v1.8 ADCY5 Louise Daugherty Source London North GLH was added to ADCY5.
Adult onset neurodegenerative disorder v1.8 ADAR Louise Daugherty Source London North GLH was added to ADAR.
Adult onset neurodegenerative disorder v1.8 ABHD12 Louise Daugherty Source London North GLH was added to ABHD12.
Adult onset neurodegenerative disorder v1.8 ABCB7 Louise Daugherty Source London North GLH was added to ABCB7.
Adult onset neurodegenerative disorder v1.8 AAAS Louise Daugherty Source London North GLH was added to AAAS.
Adult onset neurodegenerative disorder v1.8 CHCHD10 Louise Daugherty Source London North GLH was added to CHCHD10.
Adult onset neurodegenerative disorder v1.8 XPR1 Louise Daugherty gene: XPR1 was added
gene: XPR1 was added to Neurodegenerative disorders - adult onset. Sources: London North GLH
Mode of inheritance for gene: XPR1 was set to
Adult onset neurodegenerative disorder v1.8 WDR45 Louise Daugherty Source London North GLH was added to WDR45.
Adult onset neurodegenerative disorder v1.8 VPS35 Louise Daugherty Source London North GLH was added to VPS35.
Adult onset neurodegenerative disorder v1.8 VPS13A Louise Daugherty Source London North GLH was added to VPS13A.
Adult onset neurodegenerative disorder v1.8 VCP Louise Daugherty Source London North GLH was added to VCP.
Adult onset neurodegenerative disorder v1.8 VAPB Louise Daugherty Source London North GLH was added to VAPB.
Adult onset neurodegenerative disorder v1.8 UBQLN2 Louise Daugherty Source London North GLH was added to UBQLN2.
Adult onset neurodegenerative disorder v1.8 TYROBP Louise Daugherty Source London North GLH was added to TYROBP.
Adult onset neurodegenerative disorder v1.8 TUBB4A Louise Daugherty Source London North GLH was added to TUBB4A.
Adult onset neurodegenerative disorder v1.8 TTC19 Louise Daugherty Source London North GLH was added to TTC19.
Adult onset neurodegenerative disorder v1.8 TREM2 Louise Daugherty Source London North GLH was added to TREM2.
Adult onset neurodegenerative disorder v1.8 TMEM240 Louise Daugherty Source London North GLH was added to TMEM240.
Adult onset neurodegenerative disorder v1.8 TBK1 Louise Daugherty Source London North GLH was added to TBK1.
Adult onset neurodegenerative disorder v1.8 TARDBP Louise Daugherty Source London North GLH was added to TARDBP.
Adult onset neurodegenerative disorder v1.8 TAF1 Louise Daugherty Source London North GLH was added to TAF1.
Adult onset neurodegenerative disorder v1.8 SYNJ1 Louise Daugherty Source London North GLH was added to SYNJ1.
Adult onset neurodegenerative disorder v1.8 SQSTM1 Louise Daugherty gene: SQSTM1 was added
gene: SQSTM1 was added to Neurodegenerative disorders - adult onset. Sources: London North GLH
Mode of inheritance for gene: SQSTM1 was set to
Adult onset neurodegenerative disorder v1.8 SPG21 Louise Daugherty Source London North GLH was added to SPG21.
Adult onset neurodegenerative disorder v1.8 SPG11 Louise Daugherty Source London North GLH was added to SPG11.
Adult onset neurodegenerative disorder v1.8 SPAST Louise Daugherty Source London North GLH was added to SPAST.
Adult onset neurodegenerative disorder v1.8 SOD1 Louise Daugherty Source London North GLH was added to SOD1.
Adult onset neurodegenerative disorder v1.8 SNCA Louise Daugherty Source London North GLH was added to SNCA.
Adult onset neurodegenerative disorder v1.8 SLC6A3 Louise Daugherty Source London North GLH was added to SLC6A3.
Adult onset neurodegenerative disorder v1.8 SLC30A10 Louise Daugherty Source London North GLH was added to SLC30A10.
Adult onset neurodegenerative disorder v1.8 SLC20A2 Louise Daugherty Source London North GLH was added to SLC20A2.
Adult onset neurodegenerative disorder v1.8 SIGMAR1 Louise Daugherty Source London North GLH was added to SIGMAR1.
Adult onset neurodegenerative disorder v1.8 SGCE Louise Daugherty Source London North GLH was added to SGCE.
Adult onset neurodegenerative disorder v1.8 SETX Louise Daugherty Source London North GLH was added to SETX.
Adult onset neurodegenerative disorder v1.8 RNF216 Louise Daugherty Source London North GLH was added to RNF216.
Adult onset neurodegenerative disorder v1.8 PSEN2 Louise Daugherty Source London North GLH was added to PSEN2.
Adult onset neurodegenerative disorder v1.8 PSEN1 Louise Daugherty Source London North GLH was added to PSEN1.
Adult onset neurodegenerative disorder v1.8 PRNP Louise Daugherty Source London North GLH was added to PRNP.
Adult onset neurodegenerative disorder v1.8 PRKRA Louise Daugherty Source London North GLH was added to PRKRA.
Adult onset neurodegenerative disorder v1.8 PRKN Louise Daugherty Source London North GLH was added to PRKN.
Adult onset neurodegenerative disorder v1.8 PLA2G6 Louise Daugherty Source London North GLH was added to PLA2G6.
Adult onset neurodegenerative disorder v1.8 PINK1 Louise Daugherty Source London North GLH was added to PINK1.
Adult onset neurodegenerative disorder v1.8 PFN1 Louise Daugherty Source London North GLH was added to PFN1.
Adult onset neurodegenerative disorder v1.8 PDGFRB Louise Daugherty Source London North GLH was added to PDGFRB.
Adult onset neurodegenerative disorder v1.8 PDGFB Louise Daugherty gene: PDGFB was added
gene: PDGFB was added to Neurodegenerative disorders - adult onset. Sources: London North GLH
Mode of inheritance for gene: PDGFB was set to
Adult onset neurodegenerative disorder v1.8 PARK7 Louise Daugherty Source London North GLH was added to PARK7.
Adult onset neurodegenerative disorder v1.8 PANK2 Louise Daugherty Source London North GLH was added to PANK2.
Adult onset neurodegenerative disorder v1.8 OPTN Louise Daugherty Source London North GLH was added to OPTN.
Adult onset neurodegenerative disorder v1.8 NPC2 Louise Daugherty Source London North GLH was added to NPC2.
Adult onset neurodegenerative disorder v1.8 NPC1 Louise Daugherty Source London North GLH was added to NPC1.
Adult onset neurodegenerative disorder v1.8 NOTCH3 Louise Daugherty Source London North GLH was added to NOTCH3.
Adult onset neurodegenerative disorder v1.8 NHLRC1 Louise Daugherty Source London North GLH was added to NHLRC1.
Adult onset neurodegenerative disorder v1.8 KIAA1161 Louise Daugherty gene: KIAA1161 was added
gene: KIAA1161 was added to Neurodegenerative disorders - adult onset. Sources: London North GLH
Mode of inheritance for gene: KIAA1161 was set to
Adult onset neurodegenerative disorder v1.8 MAPT Louise Daugherty Source London North GLH was added to MAPT.
Adult onset neurodegenerative disorder v1.8 LYST Louise Daugherty Source London North GLH was added to LYST.
Adult onset neurodegenerative disorder v1.8 LRRK2 Louise Daugherty Source London North GLH was added to LRRK2.
Adult onset neurodegenerative disorder v1.8 KIF5A Louise Daugherty Source London North GLH was added to KIF5A.
Adult onset neurodegenerative disorder v1.8 KCND3 Louise Daugherty Source London North GLH was added to KCND3.
Adult onset neurodegenerative disorder v1.8 KCNC3 Louise Daugherty Source London North GLH was added to KCNC3.
Adult onset neurodegenerative disorder v1.8 ITM2B Louise Daugherty Source London North GLH was added to ITM2B.
Adult onset neurodegenerative disorder v1.8 HTRA2 Louise Daugherty Source London North GLH was added to HTRA2.
Adult onset neurodegenerative disorder v1.8 HTRA1 Louise Daugherty Source London North GLH was added to HTRA1.
Adult onset neurodegenerative disorder v1.8 HNRNPA1 Louise Daugherty Source London North GLH was added to HNRNPA1.
Adult onset neurodegenerative disorder v1.8 HEXB Louise Daugherty Source London North GLH was added to HEXB.
Adult onset neurodegenerative disorder v1.8 HEXA Louise Daugherty Source London North GLH was added to HEXA.
Adult onset neurodegenerative disorder v1.8 GRN Louise Daugherty Source London North GLH was added to GRN.
Adult onset neurodegenerative disorder v1.8 GFAP Louise Daugherty Source London North GLH was added to GFAP.
Adult onset neurodegenerative disorder v1.8 GBA2 Louise Daugherty Source London North GLH was added to GBA2.
Adult onset neurodegenerative disorder v1.8 GBA Louise Daugherty Source London North GLH was added to GBA.
Adult onset neurodegenerative disorder v1.8 FUS Louise Daugherty Source London North GLH was added to FUS.
Adult onset neurodegenerative disorder v1.8 FTL Louise Daugherty Source London North GLH was added to FTL.
Adult onset neurodegenerative disorder v1.8 FMR1 Louise Daugherty Source London North GLH was added to FMR1.
Adult onset neurodegenerative disorder v1.8 FIG4 Louise Daugherty Source London North GLH was added to FIG4.
Adult onset neurodegenerative disorder v1.8 FBXO7 Louise Daugherty Source London North GLH was added to FBXO7.
Adult onset neurodegenerative disorder v1.8 EPM2A Louise Daugherty Source London North GLH was added to EPM2A.
Adult onset neurodegenerative disorder v1.8 ELOVL4 Louise Daugherty Source London North GLH was added to ELOVL4.
Adult onset neurodegenerative disorder v1.8 EIF2B5 Louise Daugherty Source London North GLH was added to EIF2B5.
Adult onset neurodegenerative disorder v1.8 EIF2B4 Louise Daugherty Source London North GLH was added to EIF2B4.
Adult onset neurodegenerative disorder v1.8 EIF2B3 Louise Daugherty Source London North GLH was added to EIF2B3.
Adult onset neurodegenerative disorder v1.8 EIF2B2 Louise Daugherty Source London North GLH was added to EIF2B2.
Adult onset neurodegenerative disorder v1.8 EIF2B1 Louise Daugherty Source London North GLH was added to EIF2B1.
Adult onset neurodegenerative disorder v1.8 DNMT1 Louise Daugherty Source London North GLH was added to DNMT1.
Adult onset neurodegenerative disorder v1.8 DNAJC6 Louise Daugherty Source London North GLH was added to DNAJC6.
Adult onset neurodegenerative disorder v1.8 DNAJC5 Louise Daugherty Source London North GLH was added to DNAJC5.
Adult onset neurodegenerative disorder v1.8 DCTN1 Louise Daugherty Source London North GLH was added to DCTN1.
Adult onset neurodegenerative disorder v1.8 DARS2 Louise Daugherty Source London North GLH was added to DARS2.
Adult onset neurodegenerative disorder v1.8 CYP7B1 Louise Daugherty Source London North GLH was added to CYP7B1.
Adult onset neurodegenerative disorder v1.8 CYP2U1 Louise Daugherty Source London North GLH was added to CYP2U1.
Adult onset neurodegenerative disorder v1.8 CYP27A1 Louise Daugherty Source London North GLH was added to CYP27A1.
Adult onset neurodegenerative disorder v1.8 CSF1R Louise Daugherty Source London North GLH was added to CSF1R.
Adult onset neurodegenerative disorder v1.8 CP Louise Daugherty Source London North GLH was added to CP.
Adult onset neurodegenerative disorder v1.8 COQ8A Louise Daugherty Source London North GLH was added to COQ8A.
Adult onset neurodegenerative disorder v1.8 COASY Louise Daugherty Source London North GLH was added to COASY.
Adult onset neurodegenerative disorder v1.8 CLN6 Louise Daugherty Source London North GLH was added to CLN6.
Adult onset neurodegenerative disorder v1.8 CLCN2 Louise Daugherty Source London North GLH was added to CLCN2.
Adult onset neurodegenerative disorder v1.8 CHMP2B Louise Daugherty Source London North GLH was added to CHMP2B.
Adult onset neurodegenerative disorder v1.8 CHCHD2 Louise Daugherty Source London North GLH was added to CHCHD2.
Adult onset neurodegenerative disorder v1.8 CCNF Louise Daugherty gene: CCNF was added
gene: CCNF was added to Neurodegenerative disorders - adult onset. Sources: London North GLH
Mode of inheritance for gene: CCNF was set to
Adult onset neurodegenerative disorder v1.8 CAPN1 Louise Daugherty Source London North GLH was added to CAPN1.
Adult onset neurodegenerative disorder v1.8 CACNA1G Louise Daugherty Source London North GLH was added to CACNA1G.
Adult onset neurodegenerative disorder v1.8 C19orf12 Louise Daugherty Source London North GLH was added to C19orf12.
Adult onset neurodegenerative disorder v1.8 ATXN7 Louise Daugherty Source London North GLH was added to ATXN7.
Adult onset neurodegenerative disorder v1.8 ATP1A3 Louise Daugherty Source London North GLH was added to ATP1A3.
Adult onset neurodegenerative disorder v1.8 ATP13A2 Louise Daugherty Source London North GLH was added to ATP13A2.
Adult onset neurodegenerative disorder v1.8 ARSA Louise Daugherty Source London North GLH was added to ARSA.
Adult onset neurodegenerative disorder v1.8 APP Louise Daugherty Source London North GLH was added to APP.
Adult onset neurodegenerative disorder v1.8 ANG Louise Daugherty Source London North GLH was added to ANG.
Adult onset neurodegenerative disorder v1.8 ALS2 Louise Daugherty Source London North GLH was added to ALS2.
Adult onset neurodegenerative disorder v1.8 AFG3L2 Louise Daugherty Source London North GLH was added to AFG3L2.
Adult onset neurodegenerative disorder v1.8 ABCD1 Louise Daugherty Source London North GLH was added to ABCD1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Thoracic aortic aneurysm or dissection v1.91 ADAMTSL4 Ellen McDonagh Classified gene: ADAMTSL4 as Red List (low evidence)
Thoracic aortic aneurysm or dissection v1.91 ADAMTSL4 Ellen McDonagh Added comment: Comment on list classification: This gene has been added to this panel initially as Red, and is awaiting clinical judgement as to whether this should be included diagnostically on this panel.
Thoracic aortic aneurysm or dissection v1.91 ADAMTSL4 Ellen McDonagh Gene: adamtsl4 has been classified as Red List (Low Evidence).
Adult onset neurodegenerative disorder v1.7 VAMP1 Louise Daugherty reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 REEP2 Louise Daugherty reviewed gene: REEP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 NEFH Louise Daugherty reviewed gene: NEFH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 MVK Louise Daugherty reviewed gene: MVK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 MR1 Louise Daugherty reviewed gene: MR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 MAG Louise Daugherty reviewed gene: MAG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 KDM5C Louise Daugherty reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 KCNK18 Louise Daugherty reviewed gene: KCNK18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 IPPK Louise Daugherty reviewed gene: IPPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 IBA57 Louise Daugherty reviewed gene: IBA57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 GNAL Louise Daugherty reviewed gene: GNAL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 GCH1 Louise Daugherty reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 DRD2 Louise Daugherty reviewed gene: DRD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 DMXL2 Louise Daugherty reviewed gene: DMXL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 DLAT Louise Daugherty reviewed gene: DLAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 DDC Louise Daugherty reviewed gene: DDC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 DARS Louise Daugherty reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 DAB1 Louise Daugherty reviewed gene: DAB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 COG5 Louise Daugherty reviewed gene: COG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 CLP1 Louise Daugherty reviewed gene: CLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 CIZ1 Louise Daugherty reviewed gene: CIZ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 CHCHD2 Louise Daugherty reviewed gene: CHCHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 CHCHD10 Louise Daugherty reviewed gene: CHCHD10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 CDK16 Louise Daugherty reviewed gene: CDK16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 CCT5 Louise Daugherty reviewed gene: CCT5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 CCDC88C Louise Daugherty reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 C9orf72 Louise Daugherty reviewed gene: C9orf72: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 BCAP31 Louise Daugherty reviewed gene: BCAP31: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 AUH Louise Daugherty reviewed gene: AUH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ATXN8 Louise Daugherty reviewed gene: ATXN8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ATXN7 Louise Daugherty reviewed gene: ATXN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ATXN3 Louise Daugherty reviewed gene: ATXN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ATXN2 Louise Daugherty reviewed gene: ATXN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ATXN10 Louise Daugherty reviewed gene: ATXN10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ATXN1 Louise Daugherty reviewed gene: ATXN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ATP8A2 Louise Daugherty reviewed gene: ATP8A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ATP6AP2 Louise Daugherty reviewed gene: ATP6AP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ATP2B3 Louise Daugherty reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ATN1 Louise Daugherty reviewed gene: ATN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ARX Louise Daugherty reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ARSI Louise Daugherty reviewed gene: ARSI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ARL6IP1 Louise Daugherty reviewed gene: ARL6IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 AP5Z1 Louise Daugherty reviewed gene: AP5Z1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ALAS2 Louise Daugherty reviewed gene: ALAS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ACTB Louise Daugherty reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 AARS Louise Daugherty reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Familial non syndromic congenital heart disease v1.43 TAB2 Ellen McDonagh Publications for gene: TAB2 were set to 20493459, 26139517; 28386937; 28135719
Familial non syndromic congenital heart disease v1.42 TAB2 Ellen McDonagh Publications for gene: TAB2 were set to 20493459, 26139517; 28386937
Adult onset neurodegenerative disorder v1.6 VAMP1 Anthony Dallosso reviewed gene: VAMP1: Rating: AMBER; 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 v1.6 REEP2 Anthony Dallosso reviewed gene: REEP2: Rating: AMBER; 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 v1.6 NEFH Anthony Dallosso 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
Adult onset neurodegenerative disorder v1.6 MVK Anthony Dallosso reviewed gene: MVK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mevalonic aciduria, 610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.6 MR1 Anthony Dallosso 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 v1.6 MAG Anthony Dallosso reviewed gene: MAG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 75, autosomal recessive, 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.6 KDM5C Anthony Dallosso reviewed gene: KDM5C: Rating: AMBER; 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 v1.6 KCNK18 Anthony Dallosso 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 v1.6 IPPK Anthony Dallosso 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 v1.6 IBA57 Anthony Dallosso reviewed gene: IBA57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 74, autosomal recessive, 616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.6 GNAL Anthony Dallosso reviewed gene: GNAL: Rating: GREEN; 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 v1.6 GCH1 Anthony Dallosso reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; 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
Adult onset neurodegenerative disorder v1.6 DRD2 Anthony Dallosso reviewed gene: DRD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, myoclonic, 159900; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.6 DMXL2 Anthony Dallosso 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 v1.6 DLAT Anthony Dallosso reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.6 DDC Anthony Dallosso reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.6 DARS Anthony Dallosso reviewed gene: DARS: Rating: GREEN; 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 v1.6 DAB1 Anthony Dallosso reviewed gene: DAB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 37, 615945; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.6 COG5 Anthony Dallosso reviewed gene: COG5: Rating: AMBER; 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 v1.6 CLP1 Anthony Dallosso reviewed gene: CLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 10, 615803); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.6 CIZ1 Anthony Dallosso reviewed gene: CIZ1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia 23, 614860; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.6 CHCHD2 Anthony Dallosso reviewed gene: CHCHD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 22, autosomal dominant, 616710; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.6 CHCHD10 Anthony Dallosso reviewed gene: CHCHD10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.6 CDK16 Anthony Dallosso 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 v1.6 CCT5 Anthony Dallosso 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; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.6 CCDC88C Anthony Dallosso reviewed gene: CCDC88C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: autosomal dominant spinocerebellar ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.6 C9orf72 Anthony Dallosso reviewed gene: C9orf72: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Complex parkinsonism, Amyotrophic Lateral Sclerosis/Frontotemporal Dementia, Amyotrophic lateral sclerosis and/or frontotemporal dementia, 105550 -3, clinical presentation suggestive of cortico-basal/PSP syndrome, (Hexanucleotideexpansion), Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis, Clinical syndrome FTLD (Frontotemporal lobar degeneration), Frontotemporal Dementia, Amyotrophic Lateral Sclerosis, Hexanucleotide repeat expansion, amyotrophic lateral sclerosis, frontotemporal dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.6 BCAP31 Anthony Dallosso reviewed gene: BCAP31: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Deafness, dystonia and cerebellar hypomyelination, 300475; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.6 AUH Anthony Dallosso reviewed gene: AUH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.6 ATXN8 Anthony Dallosso 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 v1.6 ATXN7 Anthony Dallosso reviewed gene: ATXN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia 7,164500; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.6 ATXN3 Anthony Dallosso reviewed gene: ATXN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: familial parkinsonism, (CAGexpansion); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.6 ATXN2 Anthony Dallosso reviewed gene: ATXN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 2, 183090, familial parkinsonism, {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090, Spinocerebellarataxia2,183090{Amyotrophiclateralsclerosis,susceptibilityto,13},183090, (CAGexpansion); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.6 ATXN10 Anthony Dallosso reviewed gene: ATXN10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia10, 603516; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.6 ATXN1 Anthony Dallosso reviewed gene: ATXN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia1, 164400; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.6 ATP8A2 Anthony Dallosso reviewed gene: ATP8A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.6 ATP6AP2 Anthony Dallosso reviewed gene: ATP6AP2: Rating: AMBER; 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 v1.6 ATP2B3 Anthony Dallosso reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, X-linked 1; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.6 ATN1 Anthony Dallosso reviewed gene: ATN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dentatorubro-pallidoluysian atrophy 125370; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.6 ARX Anthony Dallosso reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.6 ARSI Anthony Dallosso reviewed gene: ARSI: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.6 ARL6IP1 Anthony Dallosso reviewed gene: ARL6IP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.6 AP5Z1 Anthony Dallosso reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic Paraplegia, Recessive, Spastic paraplegia 48, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.6 ALAS2 Anthony Dallosso 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 v1.6 ACTB Anthony Dallosso reviewed gene: ACTB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.6 AARS Anthony Dallosso reviewed gene: AARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.5 VAMP1 Louise Daugherty Source NHS GMS was added to VAMP1.
Adult onset neurodegenerative disorder v1.5 REEP2 Louise Daugherty Source NHS GMS was added to REEP2.
Adult onset neurodegenerative disorder v1.5 NEFH Louise Daugherty Source NHS GMS was added to NEFH.
Adult onset neurodegenerative disorder v1.5 MVK Louise Daugherty Source NHS GMS was added to MVK.
Adult onset neurodegenerative disorder v1.5 MR1 Louise Daugherty Source NHS GMS was added to MR1.
Adult onset neurodegenerative disorder v1.5 MAG Louise Daugherty Source NHS GMS was added to MAG.
Adult onset neurodegenerative disorder v1.5 KDM5C Louise Daugherty Source NHS GMS was added to KDM5C.
Adult onset neurodegenerative disorder v1.5 KCNK18 Louise Daugherty Source NHS GMS was added to KCNK18.
Adult onset neurodegenerative disorder v1.5 IPPK Louise Daugherty Source NHS GMS was added to IPPK.
Adult onset neurodegenerative disorder v1.5 IBA57 Louise Daugherty Source NHS GMS was added to IBA57.
Adult onset neurodegenerative disorder v1.5 GNAL Louise Daugherty Source NHS GMS was added to GNAL.
Adult onset neurodegenerative disorder v1.5 GCH1 Louise Daugherty Source NHS GMS was added to GCH1.
Adult onset neurodegenerative disorder v1.5 DRD2 Louise Daugherty Source NHS GMS was added to DRD2.
Adult onset neurodegenerative disorder v1.5 DMXL2 Louise Daugherty Source NHS GMS was added to DMXL2.
Adult onset neurodegenerative disorder v1.5 DLAT Louise Daugherty Source NHS GMS was added to DLAT.
Adult onset neurodegenerative disorder v1.5 DDC Louise Daugherty Source NHS GMS was added to DDC.
Adult onset neurodegenerative disorder v1.5 DARS Louise Daugherty Source NHS GMS was added to DARS.
Adult onset neurodegenerative disorder v1.5 DAB1 Louise Daugherty Source NHS GMS was added to DAB1.
Adult onset neurodegenerative disorder v1.5 COG5 Louise Daugherty Source NHS GMS was added to COG5.
Adult onset neurodegenerative disorder v1.5 CLP1 Louise Daugherty Source NHS GMS was added to CLP1.
Adult onset neurodegenerative disorder v1.5 CIZ1 Louise Daugherty Source NHS GMS was added to CIZ1.
Adult onset neurodegenerative disorder v1.5 CHCHD2 Louise Daugherty Source NHS GMS was added to CHCHD2.
Adult onset neurodegenerative disorder v1.5 CHCHD10 Louise Daugherty Source NHS GMS was added to CHCHD10.
Adult onset neurodegenerative disorder v1.5 CDK16 Louise Daugherty Source NHS GMS was added to CDK16.
Adult onset neurodegenerative disorder v1.5 CCT5 Louise Daugherty Source NHS GMS was added to CCT5.
Adult onset neurodegenerative disorder v1.5 CCDC88C Louise Daugherty Source NHS GMS was added to CCDC88C.
Adult onset neurodegenerative disorder v1.5 C9orf72 Louise Daugherty Source NHS GMS was added to C9orf72.
Adult onset neurodegenerative disorder v1.5 BCAP31 Louise Daugherty Source NHS GMS was added to BCAP31.
Adult onset neurodegenerative disorder v1.5 AUH Louise Daugherty Source NHS GMS was added to AUH.
Adult onset neurodegenerative disorder v1.5 ATXN8 Louise Daugherty Source NHS GMS was added to ATXN8.
Adult onset neurodegenerative disorder v1.5 ATXN7 Louise Daugherty Source NHS GMS was added to ATXN7.
Adult onset neurodegenerative disorder v1.5 ATXN3 Louise Daugherty Source NHS GMS was added to ATXN3.
Adult onset neurodegenerative disorder v1.5 ATXN2 Louise Daugherty Source NHS GMS was added to ATXN2.
Adult onset neurodegenerative disorder v1.5 ATXN10 Louise Daugherty Source NHS GMS was added to ATXN10.
Adult onset neurodegenerative disorder v1.5 ATXN1 Louise Daugherty Source NHS GMS was added to ATXN1.
Adult onset neurodegenerative disorder v1.5 ATP8A2 Louise Daugherty Source NHS GMS was added to ATP8A2.
Adult onset neurodegenerative disorder v1.5 ATP6AP2 Louise Daugherty Source NHS GMS was added to ATP6AP2.
Adult onset neurodegenerative disorder v1.5 ATP2B3 Louise Daugherty Source NHS GMS was added to ATP2B3.
Adult onset neurodegenerative disorder v1.5 ATN1 Louise Daugherty Source NHS GMS was added to ATN1.
Adult onset neurodegenerative disorder v1.5 ARX Louise Daugherty Source NHS GMS was added to ARX.
Adult onset neurodegenerative disorder v1.5 ARSI Louise Daugherty Source NHS GMS was added to ARSI.
Adult onset neurodegenerative disorder v1.5 ARL6IP1 Louise Daugherty Source NHS GMS was added to ARL6IP1.
Adult onset neurodegenerative disorder v1.5 AP5Z1 Louise Daugherty Source NHS GMS was added to AP5Z1.
Adult onset neurodegenerative disorder v1.5 ALAS2 Louise Daugherty Source NHS GMS was added to ALAS2.
Adult onset neurodegenerative disorder v1.5 ACTB Louise Daugherty Source NHS GMS was added to ACTB.
Adult onset neurodegenerative disorder v1.5 AARS Louise Daugherty Source NHS GMS was added to AARS.
Adult onset neurodegenerative disorder v1.4 VAMP1 Louise Daugherty Source South West GLH was added to VAMP1.
Adult onset neurodegenerative disorder v1.4 REEP2 Louise Daugherty Source South West GLH was added to REEP2.
Adult onset neurodegenerative disorder v1.4 NEFH Louise Daugherty Source South West GLH was added to NEFH.
Adult onset neurodegenerative disorder v1.4 MVK Louise Daugherty Source South West GLH was added to MVK.
Adult onset neurodegenerative disorder v1.4 MR1 Louise Daugherty Source South West GLH was added to MR1.
Adult onset neurodegenerative disorder v1.4 MAG Louise Daugherty Source South West GLH was added to MAG.
Adult onset neurodegenerative disorder v1.4 KDM5C Louise Daugherty Source South West GLH was added to KDM5C.
Adult onset neurodegenerative disorder v1.4 KCNK18 Louise Daugherty Source South West GLH was added to KCNK18.
Adult onset neurodegenerative disorder v1.4 IPPK Louise Daugherty Source South West GLH was added to IPPK.
Adult onset neurodegenerative disorder v1.4 IBA57 Louise Daugherty Source South West GLH was added to IBA57.
Adult onset neurodegenerative disorder v1.4 GNAL Louise Daugherty Source South West GLH was added to GNAL.
Adult onset neurodegenerative disorder v1.4 GCH1 Louise Daugherty Source South West GLH was added to GCH1.
Adult onset neurodegenerative disorder v1.4 DRD2 Louise Daugherty Source South West GLH was added to DRD2.
Adult onset neurodegenerative disorder v1.4 DMXL2 Louise Daugherty Source South West GLH was added to DMXL2.
Adult onset neurodegenerative disorder v1.4 DLAT Louise Daugherty Source South West GLH was added to DLAT.
Adult onset neurodegenerative disorder v1.4 DDC Louise Daugherty Source South West GLH was added to DDC.
Adult onset neurodegenerative disorder v1.4 DARS Louise Daugherty Source South West GLH was added to DARS.
Adult onset neurodegenerative disorder v1.4 DAB1 Louise Daugherty Source South West GLH was added to DAB1.
Adult onset neurodegenerative disorder v1.4 COG5 Louise Daugherty Source South West GLH was added to COG5.
Adult onset neurodegenerative disorder v1.4 CLP1 Louise Daugherty Source South West GLH was added to CLP1.
Adult onset neurodegenerative disorder v1.4 CIZ1 Louise Daugherty Source South West GLH was added to CIZ1.
Adult onset neurodegenerative disorder v1.4 CHCHD2 Louise Daugherty Source South West GLH was added to CHCHD2.
Adult onset neurodegenerative disorder v1.4 CHCHD10 Louise Daugherty Source South West GLH was added to CHCHD10.
Adult onset neurodegenerative disorder v1.4 CDK16 Louise Daugherty Source South West GLH was added to CDK16.
Adult onset neurodegenerative disorder v1.4 CCT5 Louise Daugherty Source South West GLH was added to CCT5.
Adult onset neurodegenerative disorder v1.4 CCDC88C Louise Daugherty Source South West GLH was added to CCDC88C.
Adult onset neurodegenerative disorder v1.4 C9orf72 Louise Daugherty Source South West GLH was added to C9orf72.
Adult onset neurodegenerative disorder v1.4 BCAP31 Louise Daugherty Source South West GLH was added to BCAP31.
Adult onset neurodegenerative disorder v1.4 AUH Louise Daugherty Source South West GLH was added to AUH.
Adult onset neurodegenerative disorder v1.4 ATXN8 Louise Daugherty Source South West GLH was added to ATXN8.
Adult onset neurodegenerative disorder v1.4 ATXN7 Louise Daugherty Source South West GLH was added to ATXN7.
Adult onset neurodegenerative disorder v1.4 ATXN3 Louise Daugherty Source South West GLH was added to ATXN3.
Adult onset neurodegenerative disorder v1.4 ATXN2 Louise Daugherty Source South West GLH was added to ATXN2.
Adult onset neurodegenerative disorder v1.4 ATXN10 Louise Daugherty Source South West GLH was added to ATXN10.
Adult onset neurodegenerative disorder v1.4 ATXN1 Louise Daugherty Source South West GLH was added to ATXN1.
Adult onset neurodegenerative disorder v1.4 ATP8A2 Louise Daugherty Source South West GLH was added to ATP8A2.
Adult onset neurodegenerative disorder v1.4 ATP6AP2 Louise Daugherty Source South West GLH was added to ATP6AP2.
Adult onset neurodegenerative disorder v1.4 ATP2B3 Louise Daugherty Source South West GLH was added to ATP2B3.
Adult onset neurodegenerative disorder v1.4 ATN1 Louise Daugherty Source South West GLH was added to ATN1.
Adult onset neurodegenerative disorder v1.4 ARX Louise Daugherty Source South West GLH was added to ARX.
Adult onset neurodegenerative disorder v1.4 ARSI Louise Daugherty Source South West GLH was added to ARSI.
Adult onset neurodegenerative disorder v1.4 ARL6IP1 Louise Daugherty Source South West GLH was added to ARL6IP1.
Adult onset neurodegenerative disorder v1.4 AP5Z1 Louise Daugherty Source South West GLH was added to AP5Z1.
Adult onset neurodegenerative disorder v1.4 ALAS2 Louise Daugherty Source South West GLH was added to ALAS2.
Adult onset neurodegenerative disorder v1.4 ACTB Louise Daugherty Source South West GLH was added to ACTB.
Adult onset neurodegenerative disorder v1.4 AARS Louise Daugherty Source South West GLH was added to AARS.
Structural eye disease v0.60 CSPP1 Mariya Moosajee reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Joubert syndrome 21; Mode of inheritance:
Structural eye disease v0.60 WNT3 Mariya Moosajee reviewed gene: WNT3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Tetraamelia Syndrome 1, TETAMS1; Mode of inheritance:
Structural eye disease v0.60 TUBB Mariya Moosajee reviewed gene: TUBB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Skin Creases, Congenital Symmetric Circumferential, 2, CSCSC2; Mode of inheritance:
Structural eye disease v0.60 SNX3 Mariya Moosajee reviewed gene: SNX3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Microphthalmia, Syndromic 8,MCOPS8; Mode of inheritance:
Structural eye disease v0.60 SMO Mariya Moosajee reviewed gene: SMO: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Curry-Jones Syndrome, CRJS; Mode of inheritance:
Structural eye disease v0.60 SMG9 Mariya Moosajee reviewed gene: SMG9: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Heart and Brain Malformation Syndrome: HBMS; Mode of inheritance:
Structural eye disease v0.60 SLC25A24 Mariya Moosajee reviewed gene: SLC25A24: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Gorlin-Chaudhry-Moss Syndrome, GCMS; Mode of inheritance:
Structural eye disease v0.60 TMEM5 Mariya Moosajee reviewed gene: TMEM5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular Dystrophy-Dystroglycanopathy, Type A, 10, MDDGA10; Mode of inheritance:
Structural eye disease v0.60 RIPK4 Mariya Moosajee reviewed gene: RIPK4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Popliteal Pterygium Syndrome; Mode of inheritance:
Structural eye disease v0.60 RERE Mariya Moosajee reviewed gene: RERE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Neurodevelopment Disorder with anomalies of the Brain, Eye and/or Heart, NEDBEH; Mode of inheritance:
Structural eye disease v0.60 POMT2 Mariya Moosajee reviewed gene: POMT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular Dystrophy-Dystroglycanopathy, Type A, 2, MDDGA2; Mode of inheritance:
Structural eye disease v0.60 POMT1 Mariya Moosajee reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular Dystrophy-Dystroglycanopathy, Type A, MDDGA1; Mode of inheritance:
Structural eye disease v0.60 POMGNT2 Mariya Moosajee reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular Dystrophy-Dystroglycanopathy, Type A, 8, MDDGA8; Mode of inheritance:
Structural eye disease v0.60 POMGNT1 Mariya Moosajee reviewed gene: POMGNT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular Dystrophy-Dystroglycanopathy, Type A, 3, MDDGA3; Mode of inheritance:
Structural eye disease v0.60 FANCL Mariya Moosajee reviewed gene: FANCL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Complementation Group L, FANCL; Mode of inheritance:
Structural eye disease v0.60 OLFM2 Mariya Moosajee reviewed gene: OLFM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Bilateral microphthalmia, short stature and facial dysmorphism ; Mode of inheritance:
Structural eye disease v0.60 NDUFB11 Mariya Moosajee reviewed gene: NDUFB11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Linear Skin Defects with Multiple Congenital Anomalies 3, LSDMCA3; Mode of inheritance:
Structural eye disease v0.60 MITF Mariya Moosajee reviewed gene: MITF: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: COMMAD Syndrome, Waardenburg syndrome, type 2a, WS2A; Mode of inheritance:
Structural eye disease v0.60 MAPRE2 Mariya Moosajee reviewed gene: MAPRE2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Skin Creases, Congenital Symmetric Circumferential, 2, CSCSC2; Mode of inheritance:
Structural eye disease v0.60 KIF11 Mariya Moosajee reviewed gene: KIF11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Chorioretinopathy, Lymphedema or Mental Retardation, MCLMR; Mode of inheritance:
Structural eye disease v0.60 KDM6A Mariya Moosajee reviewed gene: KDM6A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Kabuki Syndrome 2, KABUK2; Mode of inheritance:
Structural eye disease v0.60 ISPD Mariya Moosajee reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular Dystrophy-Dystroglycanopathy, Type A, 7, MDDGA7; Mode of inheritance:
Structural eye disease v0.60 IKBKG Mariya Moosajee reviewed gene: IKBKG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Incontinentia pigmenti, IP; Mode of inheritance:
Structural eye disease v0.60 GLI2 Mariya Moosajee reviewed gene: GLI2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Holoprosencephaly 9, HPE9; Mode of inheritance:
Structural eye disease v0.60 FKTN Mariya Moosajee reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular Dystrophy-Dystroglycanopathy, Type A, 4, MDDGA4; Mode of inheritance:
Structural eye disease v0.60 FKRP Mariya Moosajee reviewed gene: FKRP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular Dystrophy-Dystroglycanopathy, Type A, 5, MDDGA5; Mode of inheritance:
Structural eye disease v0.60 FANCI Mariya Moosajee reviewed gene: FANCI: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Complementation Group I, FANCI; Mode of inheritance:
Structural eye disease v0.60 FANCE Mariya Moosajee reviewed gene: FANCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Complementation Group E, FANCE; Mode of inheritance:
Structural eye disease v0.60 FANCD2 Mariya Moosajee reviewed gene: FANCD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Complementation Group D2, FANCD2; Mode of inheritance:
Structural eye disease v0.60 FANCA Mariya Moosajee reviewed gene: FANCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Fanconi Anemia, Complementation Group A, FA; Mode of inheritance:
Structural eye disease v0.60 ESCO2 Mariya Moosajee reviewed gene: ESCO2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: SC Phocomelia Syndrome; Mode of inheritance:
Structural eye disease v0.60 DOCK6 Mariya Moosajee reviewed gene: DOCK6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Adams-Oliver Syndrome 2, AOS2; Mode of inheritance:
Structural eye disease v0.60 DAG1 Mariya Moosajee reviewed gene: DAG1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystroglycanopathy, Type A, 9, MDDGA9; Mode of inheritance:
Structural eye disease v0.60 C5orf42 Mariya Moosajee reviewed gene: C5orf42: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Oriofaciodigital Syndrome VI, OFD6 ; Mode of inheritance:
Structural eye disease v0.60 COX7B Mariya Moosajee reviewed gene: COX7B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Linear Skin Defects with Multiple Congenital Anomalies 2, LSDMCA2; Mode of inheritance:
Structural eye disease v0.60 B3GALNT2 Mariya Moosajee reviewed gene: B3GALNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Muscular Dystrophy-Dystroglycanopathy, Type A, 11, ; Mode of inheritance:
Structural eye disease v0.60 ALX3 Mariya Moosajee reviewed gene: ALX3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Frontonasal Dysplasia 1, FND1; Mode of inheritance:
Structural eye disease v0.60 ALX1 Mariya Moosajee reviewed gene: ALX1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Frontonasal Dysplasia 3, FND3; Mode of inheritance:
Structural eye disease v0.59 TMEM5 Ivone Leong commented on gene: TMEM5
Structural eye disease v0.59 TMEM5 Ivone Leong Tag new-gene-name tag was added to gene: TMEM5.
Structural eye disease v0.59 CSPP1 Ivone Leong gene: CSPP1 was added
gene: CSPP1 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CSPP1 were set to Joubert syndrome 21, 615636
Structural eye disease v0.59 WNT3 Ivone Leong gene: WNT3 was added
gene: WNT3 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: WNT3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WNT3 were set to Tetraamelia Syndrome 1, TETAMS1, 273395
Structural eye disease v0.59 TUBB Ivone Leong gene: TUBB was added
gene: TUBB was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: TUBB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TUBB were set to Skin Creases, Congenital Symmetric Circumferential, 2, CSCSC2, 156610
Structural eye disease v0.59 SNX3 Ivone Leong gene: SNX3 was added
gene: SNX3 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: SNX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SNX3 were set to No OMIM; Microphthalmia, Syndromic 8, MCOPS8, 601349
Structural eye disease v0.59 SMO Ivone Leong Source London North GLH was added to SMO.
Structural eye disease v0.59 SMG9 Ivone Leong gene: SMG9 was added
gene: SMG9 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: SMG9 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMG9 were set to Heart and Brain Malformation Syndrome, HBMS, 616920
Structural eye disease v0.59 SLC25A24 Ivone Leong gene: SLC25A24 was added
gene: SLC25A24 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: SLC25A24 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC25A24 were set to Gorlin-Chaudhry-Moss Syndrome, GCMS; Fontaine progeroid syndrome, 612289
Structural eye disease v0.59 TMEM5 Ivone Leong gene: TMEM5 was added
gene: TMEM5 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: TMEM5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TMEM5 were set to Muscular Dystrophy-Dystroglycanopathy, Type A, 10, MDDGA10, 615041
Structural eye disease v0.59 RIPK4 Ivone Leong gene: RIPK4 was added
gene: RIPK4 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: RIPK4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RIPK4 were set to Popliteal pterygium syndrome, Bartsocas-Papas type, 263650
Structural eye disease v0.59 RERE Ivone Leong gene: RERE was added
gene: RERE was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: RERE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RERE were set to Neurodevelopment Disorder with anomalies of the Brain, Eye and/or Heart, NEDBEH, 616975
Structural eye disease v0.59 POMT2 Ivone Leong Source London North GLH was added to POMT2.
Structural eye disease v0.59 POMT1 Ivone Leong Source London North GLH was added to POMT1.
Structural eye disease v0.59 POMGNT2 Ivone Leong gene: POMGNT2 was added
gene: POMGNT2 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT2 were set to Muscular Dystrophy-Dystroglycanopathy, Type A, 8, MDDGA8, 614830
Structural eye disease v0.59 POMGNT1 Ivone Leong gene: POMGNT1 was added
gene: POMGNT1 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: POMGNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: POMGNT1 were set to Muscular Dystrophy-Dystroglycanopathy, Type A, 3, MDDGA3, 253280
Structural eye disease v0.59 FANCL Ivone Leong gene: FANCL was added
gene: FANCL was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: FANCL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FANCL were set to Fanconi Anemia, Complementation Group L, FANCL, 614083
Structural eye disease v0.59 OLFM2 Ivone Leong Source London North GLH was added to OLFM2.
Added phenotypes Bilateral microphthalmia, short stature and facial dysmorphism; No OMIM for gene: OLFM2
Structural eye disease v0.59 NDUFB11 Ivone Leong gene: NDUFB11 was added
gene: NDUFB11 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: NDUFB11 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: NDUFB11 were set to Linear Skin Defects with Multiple Congenital Anomalies 3, LSDMCA3, 300952
Structural eye disease v0.59 MITF Ivone Leong Source London North GLH was added to MITF.
Added phenotypes Waardenburg syndrome, type 2a, WS2A, 193510 for gene: MITF
Structural eye disease v0.59 MAPRE2 Ivone Leong gene: MAPRE2 was added
gene: MAPRE2 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: MAPRE2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MAPRE2 were set to Skin Creases, Congenital Symmetric Circumferential, 2, CSCSC2, 616734
Structural eye disease v0.59 KIF11 Ivone Leong gene: KIF11 was added
gene: KIF11 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: KIF11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIF11 were set to Chorioretinopathy, Lymphedema or Mental Retardation, MCLMR, 152950
Structural eye disease v0.59 KDM6A Ivone Leong gene: KDM6A was added
gene: KDM6A was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: KDM6A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: KDM6A were set to Kabuki Syndrome 2, KABUK2, 300867
Structural eye disease v0.59 ISPD Ivone Leong Source London North GLH was added to ISPD.
Structural eye disease v0.59 IKBKG Ivone Leong gene: IKBKG was added
gene: IKBKG was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: IKBKG were set to Incontinentia pigmenti, IP, 308300
Structural eye disease v0.59 GLI2 Ivone Leong Source London North GLH was added to GLI2.
Mode of inheritance for gene GLI2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Structural eye disease v0.59 FKTN Ivone Leong gene: FKTN was added
gene: FKTN was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FKTN were set to Muscular Dystrophy-Dystroglycanopathy, Type A, 4, MDDGA4, 253800
Structural eye disease v0.59 FKRP Ivone Leong Source London North GLH was added to FKRP.
Structural eye disease v0.59 FANCI Ivone Leong gene: FANCI was added
gene: FANCI was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: FANCI was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCI were set to Fanconi Anemia, Complementation Group I, FANCI, 609053
Structural eye disease v0.59 FANCE Ivone Leong gene: FANCE was added
gene: FANCE was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: FANCE was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCE were set to Fanconi Anemia, Complementation Group E, FANCE, 600901
Structural eye disease v0.59 FANCD2 Ivone Leong gene: FANCD2 was added
gene: FANCD2 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: FANCD2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCD2 were set to Fanconi Anemia, Complementation Group D2, FANCD2, 227646
Structural eye disease v0.59 FANCA Ivone Leong gene: FANCA was added
gene: FANCA was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: FANCA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FANCA were set to Fanconi Anemia, Complementation Group A, FA, 227650
Structural eye disease v0.59 ESCO2 Ivone Leong gene: ESCO2 was added
gene: ESCO2 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ESCO2 were set to SC Phocomelia Syndrome, 269000
Structural eye disease v0.59 DOCK6 Ivone Leong gene: DOCK6 was added
gene: DOCK6 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: DOCK6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DOCK6 were set to Adams-Oliver Syndrome 2, AOS2, 614219
Structural eye disease v0.59 DAG1 Ivone Leong gene: DAG1 was added
gene: DAG1 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: DAG1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DAG1 were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 9, 613818
Structural eye disease v0.59 C5orf42 Ivone Leong Source London North GLH was added to C5orf42.
Added phenotypes Oriofaciodigital Syndrome VI, OFD6, 277170 for gene: C5orf42
Structural eye disease v0.59 COX7B Ivone Leong gene: COX7B was added
gene: COX7B was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: COX7B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: COX7B were set to Linear Skin Defects with Multiple Congenital Anomalies 2, LSDMCA2, 300887
Structural eye disease v0.59 B3GALNT2 Ivone Leong gene: B3GALNT2 was added
gene: B3GALNT2 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: B3GALNT2 were set to Muscular Dystrophy-Dystroglycanopathy, Type A, 11, 615181
Structural eye disease v0.59 ALX3 Ivone Leong gene: ALX3 was added
gene: ALX3 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: ALX3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALX3 were set to Frontonasal Dysplasia 1, FND1, 136760
Structural eye disease v0.59 ALX1 Ivone Leong gene: ALX1 was added
gene: ALX1 was added to Structural eye disease. Sources: London North GLH
Mode of inheritance for gene: ALX1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ALX1 were set to Frontonasal Dysplasia 3, FND3, 613456
Adult onset dystonia, chorea or related movement disorder v0.57 ISCA-37468-Loss Louise Daugherty Source London North GLH was added to Region: ISCA-37468-Loss.
Added phenotypes hypotonia; episodes of sudden loss of muscle tone; short stature; severe intellectual disability; autistic features; eleveated serotonin levels; exiting behavior; lip-smacking; stereotypical hand movements for Region: ISCA-37468-Loss
Publications for Region: ISCA-37468-Loss were changed from 20485326; 22365943; 23414621 to 23414621; 20485326; 22365943
Adult onset dystonia, chorea or related movement disorder v0.56 ISCA-37468-Loss Louise Daugherty reviewed Region: ISCA-37468-Loss: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset dystonia, chorea or related movement disorder v0.56 TBP_CAG Louise Daugherty Source NHS GMS was added to STR: TBP_CAG.
Adult onset dystonia, chorea or related movement disorder v0.56 JPH3_CTG Louise Daugherty Source NHS GMS was added to STR: JPH3_CTG.
Adult onset dystonia, chorea or related movement disorder v0.56 HTT_CAG Louise Daugherty Source NHS GMS was added to STR: HTT_CAG.
Adult onset dystonia, chorea or related movement disorder v0.56 C9orf72_GGGGCC Louise Daugherty Source NHS GMS was added to STR: C9orf72_GGGGCC.
Adult onset dystonia, chorea or related movement disorder v0.56 ATXN3_CAG Louise Daugherty Source NHS GMS was added to STR: ATXN3_CAG.
Adult onset dystonia, chorea or related movement disorder v0.56 ATXN2_CAG Louise Daugherty Source NHS GMS was added to STR: ATXN2_CAG.
Adult onset dystonia, chorea or related movement disorder v0.55 JPH3_CTG Louise Daugherty commented on STR: JPH3_CTG: STR rating 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 : STR
Adult onset dystonia, chorea or related movement disorder v0.55 TBP_CAG Louise Daugherty commented on STR: TBP_CAG: STR rating 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 : STR suggested by Huw and Raquel.
Adult onset dystonia, chorea or related movement disorder v0.55 HTT_CAG Louise Daugherty commented on STR: HTT_CAG: STR rating 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 : STR
Adult onset dystonia, chorea or related movement disorder v0.55 C9orf72_GGGGCC Louise Daugherty commented on STR: C9orf72_GGGGCC: STR rating 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 : STR suggested by Huw and Raquel.
Adult onset dystonia, chorea or related movement disorder v0.55 ATXN3_CAG Louise Daugherty commented on STR: ATXN3_CAG: STR rating 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 : STR suggested by Huw and Raquel.
Adult onset dystonia, chorea or related movement disorder v0.55 ATXN2_CAG Louise Daugherty commented on STR: ATXN2_CAG: STR rating 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 : STR suggested by Huw and Raquel.
Adult onset dystonia, chorea or related movement disorder v0.55 TBP_CAG Louise Daugherty Source London North GLH was added to STR: TBP_CAG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.55 JPH3_CTG Louise Daugherty Source London North GLH was added to STR: JPH3_CTG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.55 HTT_CAG Louise Daugherty Source London North GLH was added to STR: HTT_CAG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.55 C9orf72_GGGGCC Louise Daugherty Source London North GLH was added to STR: C9orf72_GGGGCC.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.55 ATXN3_CAG Louise Daugherty Source London North GLH was added to STR: ATXN3_CAG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.55 ATXN2_CAG Louise Daugherty Source London North GLH was added to STR: ATXN2_CAG.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.54 YY1 Louise Daugherty reviewed gene: YY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 XPR1 Louise Daugherty reviewed gene: XPR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 WDR73 Louise Daugherty reviewed gene: WDR73: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 WDR45 Louise Daugherty reviewed gene: WDR45: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 VPS35 Louise Daugherty reviewed gene: VPS35: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 VPS13A Louise Daugherty reviewed gene: VPS13A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 VAMP2 Louise Daugherty reviewed gene: VAMP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 VAC14 Louise Daugherty reviewed gene: VAC14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 TUBB4A Louise Daugherty reviewed gene: TUBB4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 TUBA1A Louise Daugherty reviewed gene: TUBA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 TOR1A Louise Daugherty reviewed gene: TOR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 THAP1 Louise Daugherty reviewed gene: THAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 TH Louise Daugherty reviewed gene: TH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 TBK1 Louise Daugherty reviewed gene: TBK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 TAF1 Louise Daugherty commented on gene: TAF1: Review and rating 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.
Adult onset dystonia, chorea or related movement disorder v0.54 SYNJ1 Louise Daugherty reviewed gene: SYNJ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 SURF1 Louise Daugherty reviewed gene: SURF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 SUCLG1 Louise Daugherty reviewed gene: SUCLG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 SUCLA2 Louise Daugherty reviewed gene: SUCLA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 SPR Louise Daugherty reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 SPG11 Louise Daugherty reviewed gene: SPG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 SNCA Louise Daugherty reviewed gene: SNCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 SLC6A5 Louise Daugherty reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 SLC6A3 Louise Daugherty reviewed gene: SLC6A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 SLC39A14 Louise Daugherty reviewed gene: SLC39A14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 SLC30A10 Louise Daugherty reviewed gene: SLC30A10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 SLC2A1 Louise Daugherty reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 SLC25A19 Louise Daugherty reviewed gene: SLC25A19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 SLC20A2 Louise Daugherty reviewed gene: SLC20A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 SLC1A3 Louise Daugherty reviewed gene: SLC1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 SLC19A3 Louise Daugherty reviewed gene: SLC19A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 SGCE Louise Daugherty reviewed gene: SGCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 SERAC1 Louise Daugherty reviewed gene: SERAC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 SDHA Louise Daugherty reviewed gene: SDHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 SCN8A Louise Daugherty reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 SCN1A Louise Daugherty reviewed gene: SCN1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 RNF216 Louise Daugherty reviewed gene: RNF216: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 RAB39B Louise Daugherty reviewed gene: RAB39B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 PRRT2 Louise Daugherty reviewed gene: PRRT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 PRNP Louise Daugherty reviewed gene: PRNP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 PRKRA Louise Daugherty reviewed gene: PRKRA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 PRKN Louise Daugherty reviewed gene: PRKN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 PPP2R2B Louise Daugherty reviewed gene: PPP2R2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 PNKD Louise Daugherty reviewed gene: PNKD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 PLA2G6 Louise Daugherty reviewed gene: PLA2G6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 PINK1 Louise Daugherty reviewed gene: PINK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 PDP1 Louise Daugherty reviewed gene: PDP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 PDHA1 Louise Daugherty reviewed gene: PDHA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 PDGFRB Louise Daugherty reviewed gene: PDGFRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 PDGFB Louise Daugherty reviewed gene: PDGFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 PDE2A Louise Daugherty reviewed gene: PDE2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 PDE10A Louise Daugherty reviewed gene: PDE10A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 PCCB Louise Daugherty reviewed gene: PCCB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 PCCA Louise Daugherty reviewed gene: PCCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 PARK7 Louise Daugherty reviewed gene: PARK7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 PANK2 Louise Daugherty reviewed gene: PANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 OPA3 Louise Daugherty reviewed gene: OPA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 OCLN Louise Daugherty reviewed gene: OCLN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 NKX6-2 Louise Daugherty reviewed gene: NKX6-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 NDUFV1 Louise Daugherty reviewed gene: NDUFV1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 NDUFS8 Louise Daugherty reviewed gene: NDUFS8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 NDUFS7 Louise Daugherty reviewed gene: NDUFS7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 NDUFS4 Louise Daugherty reviewed gene: NDUFS4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 NDUFAF6 Louise Daugherty reviewed gene: NDUFAF6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 NDUFAF2 Louise Daugherty reviewed gene: NDUFAF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 NDUFA10 Louise Daugherty reviewed gene: NDUFA10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 NDUFA1 Louise Daugherty reviewed gene: NDUFA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 MT-ND6 Louise Daugherty reviewed gene: MT-ND6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 MT-ND1 Louise Daugherty reviewed gene: MT-ND1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 MT-ATP6 Louise Daugherty reviewed gene: MT-ATP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 MUT Louise Daugherty edited their review of gene: MUT: Added comment: Review and rating 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. ; Changed rating: AMBER
Adult onset dystonia, chorea or related movement disorder v0.54 MECR Louise Daugherty reviewed gene: MECR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 MAPT Louise Daugherty reviewed gene: MAPT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 LYST Louise Daugherty reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 LRRK2 Louise Daugherty reviewed gene: LRRK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 KMT2B Louise Daugherty reviewed gene: KMT2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 KCNQ3 Louise Daugherty reviewed gene: KCNQ3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 KCNQ2 Louise Daugherty reviewed gene: KCNQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 KCNK18 Louise Daugherty commented on gene: KCNK18: Review and rating 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.
Adult onset dystonia, chorea or related movement disorder v0.54 KCNA1 Louise Daugherty reviewed gene: KCNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 IVD Louise Daugherty reviewed gene: IVD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 ISG15 Louise Daugherty reviewed gene: ISG15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 IFIH1 Louise Daugherty reviewed gene: IFIH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 HTRA2 Louise Daugherty reviewed gene: HTRA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 HPCA Louise Daugherty reviewed gene: HPCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 HIBCH Louise Daugherty reviewed gene: HIBCH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 GTPBP2 Louise Daugherty reviewed gene: GTPBP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 GRN Louise Daugherty reviewed gene: GRN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 GNAO1 Louise Daugherty reviewed gene: GNAO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 GNAL Louise Daugherty commented on gene: GNAL: Review and rating 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.
Adult onset dystonia, chorea or related movement disorder v0.54 GLRB Louise Daugherty reviewed gene: GLRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 GLRA1 Louise Daugherty reviewed gene: GLRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 GFAP Louise Daugherty commented on gene: GFAP: Review and rating 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.
Adult onset dystonia, chorea or related movement disorder v0.54 GCH1 Louise Daugherty reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 GCDH Louise Daugherty reviewed gene: GCDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 GBA Louise Daugherty reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 FTL Louise Daugherty reviewed gene: FTL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 FOXP2 Louise Daugherty reviewed gene: FOXP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 FBXO7 Louise Daugherty reviewed gene: FBXO7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 FA2H Louise Daugherty reviewed gene: FA2H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 ETHE1 Louise Daugherty reviewed gene: ETHE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 DNAJC6 Louise Daugherty reviewed gene: DNAJC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 DLAT Louise Daugherty reviewed gene: DLAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 DCTN1 Louise Daugherty reviewed gene: DCTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 DCAF17 Louise Daugherty reviewed gene: DCAF17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 CSTB Louise Daugherty reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 CSF1R Louise Daugherty reviewed gene: CSF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 CP Louise Daugherty reviewed gene: CP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 COX15 Louise Daugherty reviewed gene: COX15: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 COX10 Louise Daugherty reviewed gene: COX10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 COASY Louise Daugherty reviewed gene: COASY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 CIZ1 Louise Daugherty commented on gene: CIZ1: Review and rating 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.
Adult onset dystonia, chorea or related movement disorder v0.54 CHMP2B Louise Daugherty reviewed gene: CHMP2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 CHCHD2 Louise Daugherty commented on gene: CHCHD2: Review and rating 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.
Adult onset dystonia, chorea or related movement disorder v0.54 CACNB4 Louise Daugherty reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 CACNA1A Louise Daugherty reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 C19orf12 Louise Daugherty reviewed gene: C19orf12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 BCS1L Louise Daugherty reviewed gene: BCS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 BCAP31 Louise Daugherty reviewed gene: BCAP31: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 ATXN1 Louise Daugherty reviewed gene: ATXN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 ATP7B Louise Daugherty reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 ATP1A3 Louise Daugherty reviewed gene: ATP1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 ATP1A2 Louise Daugherty reviewed gene: ATP1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 ATP13A2 Louise Daugherty reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 ATN1 Louise Daugherty commented on gene: ATN1: Review and rating 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.
Adult onset dystonia, chorea or related movement disorder v0.54 ATM Louise Daugherty reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 APTX Louise Daugherty reviewed gene: APTX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 AP1S2 Louise Daugherty reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 ANO3 Louise Daugherty reviewed gene: ANO3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 ADCY5 Louise Daugherty reviewed gene: ADCY5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.54 ADAR Louise Daugherty reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 YY1 James Polke reviewed gene: YY1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 XPR1 James Polke reviewed gene: XPR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 WDR73 James Polke reviewed gene: WDR73: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 WDR45 James Polke reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 VPS35 James Polke reviewed gene: VPS35: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 VPS13A James Polke reviewed gene: VPS13A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 VAMP2 James Polke reviewed gene: VAMP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 VAC14 James Polke reviewed gene: VAC14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 TUBB4A James Polke reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 TUBA1A James Polke reviewed gene: TUBA1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 TOR1A James Polke reviewed gene: TOR1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 THAP1 James Polke reviewed gene: THAP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 TH James Polke reviewed gene: TH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 TBK1 James Polke reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 TAF1 James Polke reviewed gene: TAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 SYNJ1 James Polke reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 SURF1 James Polke reviewed gene: SURF1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 SUCLG1 James Polke reviewed gene: SUCLG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 SUCLA2 James Polke reviewed gene: SUCLA2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 SPR James Polke reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 SPG11 James Polke reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 SNCA James Polke reviewed gene: SNCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 SLC6A5 James Polke reviewed gene: SLC6A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 SLC6A3 James Polke reviewed gene: SLC6A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 SLC39A14 James Polke reviewed gene: SLC39A14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 SLC30A10 James Polke reviewed gene: SLC30A10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 SLC2A1 James Polke reviewed gene: SLC2A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 SLC25A19 James Polke reviewed gene: SLC25A19: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 SLC20A2 James Polke reviewed gene: SLC20A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 SLC1A3 James Polke reviewed gene: SLC1A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 SLC19A3 James Polke reviewed gene: SLC19A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 SGCE James Polke reviewed gene: SGCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 SERAC1 James Polke reviewed gene: SERAC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 SDHA James Polke reviewed gene: SDHA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 SCN8A James Polke reviewed gene: SCN8A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 SCN1A James Polke reviewed gene: SCN1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 RNF216 James Polke reviewed gene: RNF216: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 RAB39B James Polke reviewed gene: RAB39B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 PRRT2 James Polke reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 PRNP James Polke reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 PRKRA James Polke reviewed gene: PRKRA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 PRKN James Polke reviewed gene: PRKN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 PPP2R2B James Polke reviewed gene: PPP2R2B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 PNKD James Polke reviewed gene: PNKD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 PLA2G6 James Polke reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 PINK1 James Polke reviewed gene: PINK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 PDP1 James Polke reviewed gene: PDP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 PDHA1 James Polke reviewed gene: PDHA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 PDGFRB James Polke reviewed gene: PDGFRB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 PDGFB James Polke reviewed gene: PDGFB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 PDE2A James Polke reviewed gene: PDE2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 PDE10A James Polke reviewed gene: PDE10A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 PCCB James Polke reviewed gene: PCCB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 PCCA James Polke reviewed gene: PCCA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 PARK7 James Polke reviewed gene: PARK7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 PANK2 James Polke reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 OPA3 James Polke reviewed gene: OPA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 OCLN James Polke reviewed gene: OCLN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 NKX6-2 James Polke reviewed gene: NKX6-2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 NDUFV1 James Polke reviewed gene: NDUFV1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 NDUFS8 James Polke reviewed gene: NDUFS8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 NDUFS7 James Polke reviewed gene: NDUFS7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 NDUFS4 James Polke reviewed gene: NDUFS4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 NDUFAF6 James Polke reviewed gene: NDUFAF6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 NDUFAF2 James Polke reviewed gene: NDUFAF2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 NDUFA10 James Polke reviewed gene: NDUFA10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 NDUFA1 James Polke reviewed gene: NDUFA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 MT-ND6 James Polke reviewed gene: MT-ND6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 MT-ND1 James Polke reviewed gene: MT-ND1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 MT-ATP6 James Polke reviewed gene: MT-ATP6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 MUT James Polke reviewed gene: MUT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 MECR James Polke reviewed gene: MECR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 MAPT James Polke reviewed gene: MAPT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 LYST James Polke reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 LRRK2 James Polke reviewed gene: LRRK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 KMT2B James Polke reviewed gene: KMT2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 KCNQ3 James Polke reviewed gene: KCNQ3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 KCNQ2 James Polke reviewed gene: KCNQ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 KCNK18 James Polke reviewed gene: KCNK18: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 KCNA1 James Polke reviewed gene: KCNA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 IVD James Polke reviewed gene: IVD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 ISG15 James Polke reviewed gene: ISG15: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 IFIH1 James Polke reviewed gene: IFIH1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 HTRA2 James Polke reviewed gene: HTRA2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 HPCA James Polke reviewed gene: HPCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 HIBCH James Polke reviewed gene: HIBCH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 GTPBP2 James Polke reviewed gene: GTPBP2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 GRN James Polke reviewed gene: GRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 GNAO1 James Polke reviewed gene: GNAO1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 GNAL James Polke reviewed gene: GNAL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 GLRB James Polke reviewed gene: GLRB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 GLRA1 James Polke reviewed gene: GLRA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 GFAP James Polke reviewed gene: GFAP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 GCH1 James Polke reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 GCDH James Polke reviewed gene: GCDH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 GBA James Polke reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 FTL James Polke reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 FOXP2 James Polke reviewed gene: FOXP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 FBXO7 James Polke reviewed gene: FBXO7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 FA2H James Polke reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 ETHE1 James Polke reviewed gene: ETHE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 DNAJC6 James Polke reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 DLAT James Polke reviewed gene: DLAT: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 DCTN1 James Polke reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 DCAF17 James Polke reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 CSTB James Polke reviewed gene: CSTB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 CSF1R James Polke reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 CP James Polke reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 COX15 James Polke reviewed gene: COX15: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 COX10 James Polke reviewed gene: COX10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 COASY James Polke reviewed gene: COASY: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 CIZ1 James Polke reviewed gene: CIZ1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 CHMP2B James Polke reviewed gene: CHMP2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 CHCHD2 James Polke reviewed gene: CHCHD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 CACNB4 James Polke reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 CACNA1A James Polke reviewed gene: CACNA1A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 C19orf12 James Polke reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 BCS1L James Polke reviewed gene: BCS1L: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 BCAP31 James Polke reviewed gene: BCAP31: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 ATXN1 James Polke reviewed gene: ATXN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 ATP7B James Polke reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 ATP1A3 James Polke reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 ATP1A2 James Polke reviewed gene: ATP1A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 ATP13A2 James Polke reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 ATN1 James Polke reviewed gene: ATN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 ATM James Polke reviewed gene: ATM: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 APTX James Polke reviewed gene: APTX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 AP1S2 James Polke reviewed gene: AP1S2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 ANO3 James Polke reviewed gene: ANO3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 ADCY5 James Polke reviewed gene: ADCY5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.53 ADAR James Polke reviewed gene: ADAR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.52 YY1 Louise Daugherty Source NHS GMS was added to YY1.
Adult onset dystonia, chorea or related movement disorder v0.52 XPR1 Louise Daugherty Source NHS GMS was added to XPR1.
Adult onset dystonia, chorea or related movement disorder v0.52 WDR73 Louise Daugherty Source NHS GMS was added to WDR73.
Adult onset dystonia, chorea or related movement disorder v0.52 WDR45 Louise Daugherty Source NHS GMS was added to WDR45.
Adult onset dystonia, chorea or related movement disorder v0.52 VPS35 Louise Daugherty Source NHS GMS was added to VPS35.
Adult onset dystonia, chorea or related movement disorder v0.52 VPS13A Louise Daugherty Source NHS GMS was added to VPS13A.
Adult onset dystonia, chorea or related movement disorder v0.52 VAMP2 Louise Daugherty Source NHS GMS was added to VAMP2.
Adult onset dystonia, chorea or related movement disorder v0.52 VAC14 Louise Daugherty Source NHS GMS was added to VAC14.
Adult onset dystonia, chorea or related movement disorder v0.52 TUBB4A Louise Daugherty Source NHS GMS was added to TUBB4A.
Adult onset dystonia, chorea or related movement disorder v0.52 TUBA1A Louise Daugherty Source NHS GMS was added to TUBA1A.
Adult onset dystonia, chorea or related movement disorder v0.52 TOR1A Louise Daugherty Source NHS GMS was added to TOR1A.
Adult onset dystonia, chorea or related movement disorder v0.52 THAP1 Louise Daugherty Source NHS GMS was added to THAP1.
Adult onset dystonia, chorea or related movement disorder v0.52 TH Louise Daugherty Source NHS GMS was added to TH.
Adult onset dystonia, chorea or related movement disorder v0.52 TBK1 Louise Daugherty Source NHS GMS was added to TBK1.
Adult onset dystonia, chorea or related movement disorder v0.52 SYNJ1 Louise Daugherty Source NHS GMS was added to SYNJ1.
Adult onset dystonia, chorea or related movement disorder v0.52 SURF1 Louise Daugherty Source NHS GMS was added to SURF1.
Adult onset dystonia, chorea or related movement disorder v0.52 SUCLG1 Louise Daugherty Source NHS GMS was added to SUCLG1.
Adult onset dystonia, chorea or related movement disorder v0.52 SUCLA2 Louise Daugherty Source NHS GMS was added to SUCLA2.
Adult onset dystonia, chorea or related movement disorder v0.52 SPR Louise Daugherty Source NHS GMS was added to SPR.
Adult onset dystonia, chorea or related movement disorder v0.52 SPG11 Louise Daugherty Source NHS GMS was added to SPG11.
Adult onset dystonia, chorea or related movement disorder v0.52 SNCA Louise Daugherty Source NHS GMS was added to SNCA.
Adult onset dystonia, chorea or related movement disorder v0.52 SLC6A5 Louise Daugherty Source NHS GMS was added to SLC6A5.
Adult onset dystonia, chorea or related movement disorder v0.52 SLC6A3 Louise Daugherty Source NHS GMS was added to SLC6A3.
Adult onset dystonia, chorea or related movement disorder v0.52 SLC39A14 Louise Daugherty Source NHS GMS was added to SLC39A14.
Adult onset dystonia, chorea or related movement disorder v0.52 SLC30A10 Louise Daugherty Source NHS GMS was added to SLC30A10.
Adult onset dystonia, chorea or related movement disorder v0.52 SLC2A1 Louise Daugherty Source NHS GMS was added to SLC2A1.
Adult onset dystonia, chorea or related movement disorder v0.52 SLC25A19 Louise Daugherty Source NHS GMS was added to SLC25A19.
Adult onset dystonia, chorea or related movement disorder v0.52 SLC20A2 Louise Daugherty Source NHS GMS was added to SLC20A2.
Adult onset dystonia, chorea or related movement disorder v0.52 SLC1A3 Louise Daugherty Source NHS GMS was added to SLC1A3.
Adult onset dystonia, chorea or related movement disorder v0.52 SLC19A3 Louise Daugherty Source NHS GMS was added to SLC19A3.
Adult onset dystonia, chorea or related movement disorder v0.52 SGCE Louise Daugherty Source NHS GMS was added to SGCE.
Adult onset dystonia, chorea or related movement disorder v0.52 SERAC1 Louise Daugherty Source NHS GMS was added to SERAC1.
Adult onset dystonia, chorea or related movement disorder v0.52 SDHA Louise Daugherty Source NHS GMS was added to SDHA.
Adult onset dystonia, chorea or related movement disorder v0.52 SCN8A Louise Daugherty Source NHS GMS was added to SCN8A.
Adult onset dystonia, chorea or related movement disorder v0.52 SCN1A Louise Daugherty Source NHS GMS was added to SCN1A.
Adult onset dystonia, chorea or related movement disorder v0.52 RNF216 Louise Daugherty Source NHS GMS was added to RNF216.
Adult onset dystonia, chorea or related movement disorder v0.52 RAB39B Louise Daugherty Source NHS GMS was added to RAB39B.
Adult onset dystonia, chorea or related movement disorder v0.52 PRRT2 Louise Daugherty Source NHS GMS was added to PRRT2.
Adult onset dystonia, chorea or related movement disorder v0.52 PRNP Louise Daugherty Source NHS GMS was added to PRNP.
Adult onset dystonia, chorea or related movement disorder v0.52 PRKRA Louise Daugherty Source NHS GMS was added to PRKRA.
Adult onset dystonia, chorea or related movement disorder v0.52 PRKN Louise Daugherty Source NHS GMS was added to PRKN.
Adult onset dystonia, chorea or related movement disorder v0.52 PPP2R2B Louise Daugherty Source NHS GMS was added to PPP2R2B.
Adult onset dystonia, chorea or related movement disorder v0.52 PNKD Louise Daugherty Source NHS GMS was added to PNKD.
Adult onset dystonia, chorea or related movement disorder v0.52 PLA2G6 Louise Daugherty Source NHS GMS was added to PLA2G6.
Adult onset dystonia, chorea or related movement disorder v0.52 PINK1 Louise Daugherty Source NHS GMS was added to PINK1.
Adult onset dystonia, chorea or related movement disorder v0.52 PDP1 Louise Daugherty Source NHS GMS was added to PDP1.
Adult onset dystonia, chorea or related movement disorder v0.52 PDHA1 Louise Daugherty Source NHS GMS was added to PDHA1.
Adult onset dystonia, chorea or related movement disorder v0.52 PDGFRB Louise Daugherty Source NHS GMS was added to PDGFRB.
Adult onset dystonia, chorea or related movement disorder v0.52 PDGFB Louise Daugherty Source NHS GMS was added to PDGFB.
Adult onset dystonia, chorea or related movement disorder v0.52 PDE2A Louise Daugherty Source NHS GMS was added to PDE2A.
Adult onset dystonia, chorea or related movement disorder v0.52 PDE10A Louise Daugherty Source NHS GMS was added to PDE10A.
Adult onset dystonia, chorea or related movement disorder v0.52 PCCB Louise Daugherty Source NHS GMS was added to PCCB.
Adult onset dystonia, chorea or related movement disorder v0.52 PCCA Louise Daugherty Source NHS GMS was added to PCCA.
Adult onset dystonia, chorea or related movement disorder v0.52 PARK7 Louise Daugherty Source NHS GMS was added to PARK7.
Adult onset dystonia, chorea or related movement disorder v0.52 PANK2 Louise Daugherty Source NHS GMS was added to PANK2.
Adult onset dystonia, chorea or related movement disorder v0.52 OPA3 Louise Daugherty Source NHS GMS was added to OPA3.
Adult onset dystonia, chorea or related movement disorder v0.52 OCLN Louise Daugherty Source NHS GMS was added to OCLN.
Adult onset dystonia, chorea or related movement disorder v0.52 NKX6-2 Louise Daugherty Source NHS GMS was added to NKX6-2.
Adult onset dystonia, chorea or related movement disorder v0.52 NDUFV1 Louise Daugherty Source NHS GMS was added to NDUFV1.
Adult onset dystonia, chorea or related movement disorder v0.52 NDUFS8 Louise Daugherty Source NHS GMS was added to NDUFS8.
Adult onset dystonia, chorea or related movement disorder v0.52 NDUFS7 Louise Daugherty Source NHS GMS was added to NDUFS7.
Adult onset dystonia, chorea or related movement disorder v0.52 NDUFS4 Louise Daugherty Source NHS GMS was added to NDUFS4.
Adult onset dystonia, chorea or related movement disorder v0.52 NDUFAF6 Louise Daugherty Source NHS GMS was added to NDUFAF6.
Adult onset dystonia, chorea or related movement disorder v0.52 NDUFAF2 Louise Daugherty Source NHS GMS was added to NDUFAF2.
Adult onset dystonia, chorea or related movement disorder v0.52 NDUFA10 Louise Daugherty Source NHS GMS was added to NDUFA10.
Adult onset dystonia, chorea or related movement disorder v0.52 NDUFA1 Louise Daugherty Source NHS GMS was added to NDUFA1.
Adult onset dystonia, chorea or related movement disorder v0.52 MT-ND6 Louise Daugherty Source NHS GMS was added to MT-ND6.
Adult onset dystonia, chorea or related movement disorder v0.52 MT-ND1 Louise Daugherty Source NHS GMS was added to MT-ND1.
Adult onset dystonia, chorea or related movement disorder v0.52 MT-ATP6 Louise Daugherty Source NHS GMS was added to MT-ATP6.
Adult onset dystonia, chorea or related movement disorder v0.52 MUT Louise Daugherty Source NHS GMS was added to MUT.
Adult onset dystonia, chorea or related movement disorder v0.52 MECR Louise Daugherty Source NHS GMS was added to MECR.
Adult onset dystonia, chorea or related movement disorder v0.52 MAPT Louise Daugherty Source NHS GMS was added to MAPT.
Adult onset dystonia, chorea or related movement disorder v0.52 LYST Louise Daugherty Source NHS GMS was added to LYST.
Adult onset dystonia, chorea or related movement disorder v0.52 LRRK2 Louise Daugherty Source NHS GMS was added to LRRK2.
Adult onset dystonia, chorea or related movement disorder v0.52 KMT2B Louise Daugherty Source NHS GMS was added to KMT2B.
Adult onset dystonia, chorea or related movement disorder v0.52 KCNQ3 Louise Daugherty Source NHS GMS was added to KCNQ3.
Adult onset dystonia, chorea or related movement disorder v0.52 KCNQ2 Louise Daugherty Source NHS GMS was added to KCNQ2.
Adult onset dystonia, chorea or related movement disorder v0.52 KCNA1 Louise Daugherty Source NHS GMS was added to KCNA1.
Adult onset dystonia, chorea or related movement disorder v0.52 IVD Louise Daugherty Source NHS GMS was added to IVD.
Adult onset dystonia, chorea or related movement disorder v0.52 ISG15 Louise Daugherty Source NHS GMS was added to ISG15.
Adult onset dystonia, chorea or related movement disorder v0.52 IFIH1 Louise Daugherty Source NHS GMS was added to IFIH1.
Adult onset dystonia, chorea or related movement disorder v0.52 HTRA2 Louise Daugherty Source NHS GMS was added to HTRA2.
Adult onset dystonia, chorea or related movement disorder v0.52 HPCA Louise Daugherty Source NHS GMS was added to HPCA.
Adult onset dystonia, chorea or related movement disorder v0.52 HIBCH Louise Daugherty Source NHS GMS was added to HIBCH.
Adult onset dystonia, chorea or related movement disorder v0.52 GTPBP2 Louise Daugherty Source NHS GMS was added to GTPBP2.
Adult onset dystonia, chorea or related movement disorder v0.52 GRN Louise Daugherty Source NHS GMS was added to GRN.
Adult onset dystonia, chorea or related movement disorder v0.52 GNAO1 Louise Daugherty Source NHS GMS was added to GNAO1.
Adult onset dystonia, chorea or related movement disorder v0.52 GLRB Louise Daugherty Source NHS GMS was added to GLRB.
Adult onset dystonia, chorea or related movement disorder v0.52 GLRA1 Louise Daugherty Source NHS GMS was added to GLRA1.
Adult onset dystonia, chorea or related movement disorder v0.52 GCH1 Louise Daugherty Source NHS GMS was added to GCH1.
Adult onset dystonia, chorea or related movement disorder v0.52 GCDH Louise Daugherty Source NHS GMS was added to GCDH.
Adult onset dystonia, chorea or related movement disorder v0.52 GBA Louise Daugherty Source NHS GMS was added to GBA.
Adult onset dystonia, chorea or related movement disorder v0.52 FTL Louise Daugherty Source NHS GMS was added to FTL.
Adult onset dystonia, chorea or related movement disorder v0.52 FOXP2 Louise Daugherty Source NHS GMS was added to FOXP2.
Adult onset dystonia, chorea or related movement disorder v0.52 FBXO7 Louise Daugherty Source NHS GMS was added to FBXO7.
Adult onset dystonia, chorea or related movement disorder v0.52 FA2H Louise Daugherty Source NHS GMS was added to FA2H.
Adult onset dystonia, chorea or related movement disorder v0.52 ETHE1 Louise Daugherty Source NHS GMS was added to ETHE1.
Adult onset dystonia, chorea or related movement disorder v0.52 DNAJC6 Louise Daugherty Source NHS GMS was added to DNAJC6.
Adult onset dystonia, chorea or related movement disorder v0.52 DLAT Louise Daugherty Source NHS GMS was added to DLAT.
Adult onset dystonia, chorea or related movement disorder v0.52 DCTN1 Louise Daugherty Source NHS GMS was added to DCTN1.
Adult onset dystonia, chorea or related movement disorder v0.52 DCAF17 Louise Daugherty Source NHS GMS was added to DCAF17.
Adult onset dystonia, chorea or related movement disorder v0.52 CSTB Louise Daugherty Source NHS GMS was added to CSTB.
Adult onset dystonia, chorea or related movement disorder v0.52 CSF1R Louise Daugherty Source NHS GMS was added to CSF1R.
Adult onset dystonia, chorea or related movement disorder v0.52 CP Louise Daugherty Source NHS GMS was added to CP.
Adult onset dystonia, chorea or related movement disorder v0.52 COX15 Louise Daugherty Source NHS GMS was added to COX15.
Adult onset dystonia, chorea or related movement disorder v0.52 COX10 Louise Daugherty Source NHS GMS was added to COX10.
Adult onset dystonia, chorea or related movement disorder v0.52 COASY Louise Daugherty Source NHS GMS was added to COASY.
Adult onset dystonia, chorea or related movement disorder v0.52 CHMP2B Louise Daugherty Source NHS GMS was added to CHMP2B.
Adult onset dystonia, chorea or related movement disorder v0.52 CACNB4 Louise Daugherty Source NHS GMS was added to CACNB4.
Adult onset dystonia, chorea or related movement disorder v0.52 CACNA1A Louise Daugherty Source NHS GMS was added to CACNA1A.
Adult onset dystonia, chorea or related movement disorder v0.52 C19orf12 Louise Daugherty Source NHS GMS was added to C19orf12.
Adult onset dystonia, chorea or related movement disorder v0.52 BCS1L Louise Daugherty Source NHS GMS was added to BCS1L.
Adult onset dystonia, chorea or related movement disorder v0.52 BCAP31 Louise Daugherty Source NHS GMS was added to BCAP31.
Adult onset dystonia, chorea or related movement disorder v0.52 ATXN1 Louise Daugherty Source NHS GMS was added to ATXN1.
Adult onset dystonia, chorea or related movement disorder v0.52 ATP7B Louise Daugherty Source NHS GMS was added to ATP7B.
Adult onset dystonia, chorea or related movement disorder v0.52 ATP1A3 Louise Daugherty Source NHS GMS was added to ATP1A3.
Adult onset dystonia, chorea or related movement disorder v0.52 ATP1A2 Louise Daugherty Source NHS GMS was added to ATP1A2.
Adult onset dystonia, chorea or related movement disorder v0.52 ATP13A2 Louise Daugherty Source NHS GMS was added to ATP13A2.
Adult onset dystonia, chorea or related movement disorder v0.52 ATM Louise Daugherty Source NHS GMS was added to ATM.
Adult onset dystonia, chorea or related movement disorder v0.52 APTX Louise Daugherty Source NHS GMS was added to APTX.
Adult onset dystonia, chorea or related movement disorder v0.52 AP1S2 Louise Daugherty Source NHS GMS was added to AP1S2.
Adult onset dystonia, chorea or related movement disorder v0.52 ANO3 Louise Daugherty Source NHS GMS was added to ANO3.
Adult onset dystonia, chorea or related movement disorder v0.52 ADCY5 Louise Daugherty Source NHS GMS was added to ADCY5.
Adult onset dystonia, chorea or related movement disorder v0.52 ADAR Louise Daugherty Source NHS GMS was added to ADAR.
Adult onset dystonia, chorea or related movement disorder v0.51 MUT Louise Daugherty commented on gene: MUT
Adult onset dystonia, chorea or related movement disorder v0.51 MUT Louise Daugherty Tag new-gene-name tag was added to gene: MUT.
Adult onset dystonia, chorea or related movement disorder v0.51 YY1 Louise Daugherty Source London North GLH was added to YY1.
Adult onset dystonia, chorea or related movement disorder v0.51 XPR1 Louise Daugherty Source London North GLH was added to XPR1.
Adult onset dystonia, chorea or related movement disorder v0.51 WDR73 Louise Daugherty Source London North GLH was added to WDR73.
Adult onset dystonia, chorea or related movement disorder v0.51 WDR45 Louise Daugherty Source London North GLH was added to WDR45.
Adult onset dystonia, chorea or related movement disorder v0.51 VPS35 Louise Daugherty Source London North GLH was added to VPS35.
Adult onset dystonia, chorea or related movement disorder v0.51 VPS13A Louise Daugherty Source London North GLH was added to VPS13A.
Adult onset dystonia, chorea or related movement disorder v0.51 VAMP2 Louise Daugherty gene: VAMP2 was added
gene: VAMP2 was added to Adult onset movement disorder. Sources: London North GLH
Mode of inheritance for gene: VAMP2 was set to
Adult onset dystonia, chorea or related movement disorder v0.51 VAC14 Louise Daugherty Source London North GLH was added to VAC14.
Adult onset dystonia, chorea or related movement disorder v0.51 TUBB4A Louise Daugherty Source London North GLH was added to TUBB4A.
Adult onset dystonia, chorea or related movement disorder v0.51 TUBA1A Louise Daugherty Source London North GLH was added to TUBA1A.
Adult onset dystonia, chorea or related movement disorder v0.51 TOR1A Louise Daugherty Source London North GLH was added to TOR1A.
Adult onset dystonia, chorea or related movement disorder v0.51 THAP1 Louise Daugherty Source London North GLH was added to THAP1.
Adult onset dystonia, chorea or related movement disorder v0.51 TH Louise Daugherty Source London North GLH was added to TH.
Adult onset dystonia, chorea or related movement disorder v0.51 TBK1 Louise Daugherty gene: TBK1 was added
gene: TBK1 was added to Adult onset movement disorder. Sources: London North GLH
Mode of inheritance for gene: TBK1 was set to
Adult onset dystonia, chorea or related movement disorder v0.51 TAF1 Louise Daugherty Source London North GLH was added to TAF1.
Adult onset dystonia, chorea or related movement disorder v0.51 SYNJ1 Louise Daugherty Source London North GLH was added to SYNJ1.
Adult onset dystonia, chorea or related movement disorder v0.51 SURF1 Louise Daugherty Source London North GLH was added to SURF1.
Adult onset dystonia, chorea or related movement disorder v0.51 SUCLG1 Louise Daugherty Source London North GLH was added to SUCLG1.
Adult onset dystonia, chorea or related movement disorder v0.51 SUCLA2 Louise Daugherty Source London North GLH was added to SUCLA2.
Adult onset dystonia, chorea or related movement disorder v0.51 SPR Louise Daugherty Source London North GLH was added to SPR.
Adult onset dystonia, chorea or related movement disorder v0.51 SPG11 Louise Daugherty Source London North GLH was added to SPG11.
Adult onset dystonia, chorea or related movement disorder v0.51 SNCA Louise Daugherty Source London North GLH was added to SNCA.
Adult onset dystonia, chorea or related movement disorder v0.51 SLC6A5 Louise Daugherty Source London North GLH was added to SLC6A5.
Adult onset dystonia, chorea or related movement disorder v0.51 SLC6A3 Louise Daugherty Source London North GLH was added to SLC6A3.
Adult onset dystonia, chorea or related movement disorder v0.51 SLC39A14 Louise Daugherty Source London North GLH was added to SLC39A14.
Adult onset dystonia, chorea or related movement disorder v0.51 SLC30A10 Louise Daugherty Source London North GLH was added to SLC30A10.
Adult onset dystonia, chorea or related movement disorder v0.51 SLC2A1 Louise Daugherty Source London North GLH was added to SLC2A1.
Adult onset dystonia, chorea or related movement disorder v0.51 SLC25A19 Louise Daugherty Source London North GLH was added to SLC25A19.
Adult onset dystonia, chorea or related movement disorder v0.51 SLC20A2 Louise Daugherty Source London North GLH was added to SLC20A2.
Adult onset dystonia, chorea or related movement disorder v0.51 SLC1A3 Louise Daugherty Source London North GLH was added to SLC1A3.
Adult onset dystonia, chorea or related movement disorder v0.51 SLC19A3 Louise Daugherty Source London North GLH was added to SLC19A3.
Adult onset dystonia, chorea or related movement disorder v0.51 SGCE Louise Daugherty Source London North GLH was added to SGCE.
Adult onset dystonia, chorea or related movement disorder v0.51 SERAC1 Louise Daugherty Source London North GLH was added to SERAC1.
Adult onset dystonia, chorea or related movement disorder v0.51 SDHA Louise Daugherty Source London North GLH was added to SDHA.
Adult onset dystonia, chorea or related movement disorder v0.51 SCN8A Louise Daugherty Source London North GLH was added to SCN8A.
Adult onset dystonia, chorea or related movement disorder v0.51 SCN1A Louise Daugherty Source London North GLH was added to SCN1A.
Adult onset dystonia, chorea or related movement disorder v0.51 RNF216 Louise Daugherty gene: RNF216 was added
gene: RNF216 was added to Adult onset movement disorder. Sources: London North GLH
Mode of inheritance for gene: RNF216 was set to
Adult onset dystonia, chorea or related movement disorder v0.51 RAB39B Louise Daugherty Source London North GLH was added to RAB39B.
Adult onset dystonia, chorea or related movement disorder v0.51 PRRT2 Louise Daugherty Source London North GLH was added to PRRT2.
Adult onset dystonia, chorea or related movement disorder v0.51 PRNP Louise Daugherty Source London North GLH was added to PRNP.
Adult onset dystonia, chorea or related movement disorder v0.51 PRKRA Louise Daugherty Source London North GLH was added to PRKRA.
Adult onset dystonia, chorea or related movement disorder v0.51 PRKN Louise Daugherty Source London North GLH was added to PRKN.
Adult onset dystonia, chorea or related movement disorder v0.51 PPP2R2B Louise Daugherty gene: PPP2R2B was added
gene: PPP2R2B was added to Adult onset movement disorder. Sources: London North GLH
Mode of inheritance for gene: PPP2R2B was set to
Adult onset dystonia, chorea or related movement disorder v0.51 PNKD Louise Daugherty Source London North GLH was added to PNKD.
Adult onset dystonia, chorea or related movement disorder v0.51 PLA2G6 Louise Daugherty Source London North GLH was added to PLA2G6.
Adult onset dystonia, chorea or related movement disorder v0.51 PINK1 Louise Daugherty Source London North GLH was added to PINK1.
Adult onset dystonia, chorea or related movement disorder v0.51 PDP1 Louise Daugherty Source London North GLH was added to PDP1.
Adult onset dystonia, chorea or related movement disorder v0.51 PDHA1 Louise Daugherty Source London North GLH was added to PDHA1.
Adult onset dystonia, chorea or related movement disorder v0.51 PDGFRB Louise Daugherty Source London North GLH was added to PDGFRB.
Adult onset dystonia, chorea or related movement disorder v0.51 PDGFB Louise Daugherty Source London North GLH was added to PDGFB.
Adult onset dystonia, chorea or related movement disorder v0.51 PDE2A Louise Daugherty gene: PDE2A was added
gene: PDE2A was added to Adult onset movement disorder. Sources: London North GLH
Mode of inheritance for gene: PDE2A was set to
Adult onset dystonia, chorea or related movement disorder v0.51 PDE10A Louise Daugherty Source London North GLH was added to PDE10A.
Adult onset dystonia, chorea or related movement disorder v0.51 PCCB Louise Daugherty Source London North GLH was added to PCCB.
Adult onset dystonia, chorea or related movement disorder v0.51 PCCA Louise Daugherty Source London North GLH was added to PCCA.
Adult onset dystonia, chorea or related movement disorder v0.51 PARK7 Louise Daugherty Source London North GLH was added to PARK7.
Adult onset dystonia, chorea or related movement disorder v0.51 PANK2 Louise Daugherty Source London North GLH was added to PANK2.
Adult onset dystonia, chorea or related movement disorder v0.51 OPA3 Louise Daugherty Source London North GLH was added to OPA3.
Adult onset dystonia, chorea or related movement disorder v0.51 OCLN Louise Daugherty Source London North GLH was added to OCLN.
Adult onset dystonia, chorea or related movement disorder v0.51 NKX6-2 Louise Daugherty Source London North GLH was added to NKX6-2.
Adult onset dystonia, chorea or related movement disorder v0.51 NDUFV1 Louise Daugherty Source London North GLH was added to NDUFV1.
Adult onset dystonia, chorea or related movement disorder v0.51 NDUFS8 Louise Daugherty Source London North GLH was added to NDUFS8.
Adult onset dystonia, chorea or related movement disorder v0.51 NDUFS7 Louise Daugherty Source London North GLH was added to NDUFS7.
Adult onset dystonia, chorea or related movement disorder v0.51 NDUFS4 Louise Daugherty Source London North GLH was added to NDUFS4.
Adult onset dystonia, chorea or related movement disorder v0.51 NDUFAF6 Louise Daugherty Source London North GLH was added to NDUFAF6.
Adult onset dystonia, chorea or related movement disorder v0.51 NDUFAF2 Louise Daugherty Source London North GLH was added to NDUFAF2.
Adult onset dystonia, chorea or related movement disorder v0.51 NDUFA10 Louise Daugherty Source London North GLH was added to NDUFA10.
Adult onset dystonia, chorea or related movement disorder v0.51 NDUFA1 Louise Daugherty Source London North GLH was added to NDUFA1.
Adult onset dystonia, chorea or related movement disorder v0.51 MT-ND6 Louise Daugherty Source London North GLH was added to MT-ND6.
Adult onset dystonia, chorea or related movement disorder v0.51 MT-ND1 Louise Daugherty Source London North GLH was added to MT-ND1.
Adult onset dystonia, chorea or related movement disorder v0.51 MT-ATP6 Louise Daugherty Source London North GLH was added to MT-ATP6.
Adult onset dystonia, chorea or related movement disorder v0.51 MUT Louise Daugherty Source London North GLH was added to MUT.
Adult onset dystonia, chorea or related movement disorder v0.51 MECR Louise Daugherty Source London North GLH was added to MECR.
Adult onset dystonia, chorea or related movement disorder v0.51 MAPT Louise Daugherty Source London North GLH was added to MAPT.
Adult onset dystonia, chorea or related movement disorder v0.51 LYST Louise Daugherty Source London North GLH was added to LYST.
Adult onset dystonia, chorea or related movement disorder v0.51 LRRK2 Louise Daugherty Source London North GLH was added to LRRK2.
Adult onset dystonia, chorea or related movement disorder v0.51 KMT2B Louise Daugherty Source London North GLH was added to KMT2B.
Adult onset dystonia, chorea or related movement disorder v0.51 KCNQ3 Louise Daugherty Source London North GLH was added to KCNQ3.
Adult onset dystonia, chorea or related movement disorder v0.51 KCNQ2 Louise Daugherty Source London North GLH was added to KCNQ2.
Adult onset dystonia, chorea or related movement disorder v0.51 KCNK18 Louise Daugherty Source London North GLH was added to KCNK18.
Adult onset dystonia, chorea or related movement disorder v0.51 KCNA1 Louise Daugherty Source London North GLH was added to KCNA1.
Adult onset dystonia, chorea or related movement disorder v0.51 IVD Louise Daugherty Source London North GLH was added to IVD.
Adult onset dystonia, chorea or related movement disorder v0.51 ISG15 Louise Daugherty Source London North GLH was added to ISG15.
Adult onset dystonia, chorea or related movement disorder v0.51 IFIH1 Louise Daugherty Source London North GLH was added to IFIH1.
Adult onset dystonia, chorea or related movement disorder v0.51 HTRA2 Louise Daugherty Source London North GLH was added to HTRA2.
Adult onset dystonia, chorea or related movement disorder v0.51 HPCA Louise Daugherty Source London North GLH was added to HPCA.
Adult onset dystonia, chorea or related movement disorder v0.51 HIBCH Louise Daugherty Source London North GLH was added to HIBCH.
Adult onset dystonia, chorea or related movement disorder v0.51 GTPBP2 Louise Daugherty gene: GTPBP2 was added
gene: GTPBP2 was added to Adult onset movement disorder. Sources: London North GLH
Mode of inheritance for gene: GTPBP2 was set to
Adult onset dystonia, chorea or related movement disorder v0.51 GRN Louise Daugherty Source London North GLH was added to GRN.
Adult onset dystonia, chorea or related movement disorder v0.51 GNAO1 Louise Daugherty Source London North GLH was added to GNAO1.
Adult onset dystonia, chorea or related movement disorder v0.51 GNAL Louise Daugherty Source London North GLH was added to GNAL.
Adult onset dystonia, chorea or related movement disorder v0.51 GLRB Louise Daugherty Source London North GLH was added to GLRB.
Adult onset dystonia, chorea or related movement disorder v0.51 GLRA1 Louise Daugherty Source London North GLH was added to GLRA1.
Adult onset dystonia, chorea or related movement disorder v0.51 GFAP Louise Daugherty Source London North GLH was added to GFAP.
Adult onset dystonia, chorea or related movement disorder v0.51 GCH1 Louise Daugherty Source London North GLH was added to GCH1.
Adult onset dystonia, chorea or related movement disorder v0.51 GCDH Louise Daugherty Source London North GLH was added to GCDH.
Adult onset dystonia, chorea or related movement disorder v0.51 GBA Louise Daugherty Source London North GLH was added to GBA.
Adult onset dystonia, chorea or related movement disorder v0.51 FTL Louise Daugherty Source London North GLH was added to FTL.
Adult onset dystonia, chorea or related movement disorder v0.51 FOXP2 Louise Daugherty Source London North GLH was added to FOXP2.
Adult onset dystonia, chorea or related movement disorder v0.51 FBXO7 Louise Daugherty Source London North GLH was added to FBXO7.
Adult onset dystonia, chorea or related movement disorder v0.51 FA2H Louise Daugherty Source London North GLH was added to FA2H.
Adult onset dystonia, chorea or related movement disorder v0.51 ETHE1 Louise Daugherty Source London North GLH was added to ETHE1.
Adult onset dystonia, chorea or related movement disorder v0.51 DNAJC6 Louise Daugherty Source London North GLH was added to DNAJC6.
Adult onset dystonia, chorea or related movement disorder v0.51 DLAT Louise Daugherty Source London North GLH was added to DLAT.
Adult onset dystonia, chorea or related movement disorder v0.51 DCTN1 Louise Daugherty Source London North GLH was added to DCTN1.
Adult onset dystonia, chorea or related movement disorder v0.51 DCAF17 Louise Daugherty Source London North GLH was added to DCAF17.
Adult onset dystonia, chorea or related movement disorder v0.51 CSTB Louise Daugherty Source London North GLH was added to CSTB.
Adult onset dystonia, chorea or related movement disorder v0.51 CSF1R Louise Daugherty Source London North GLH was added to CSF1R.
Adult onset dystonia, chorea or related movement disorder v0.51 CP Louise Daugherty Source London North GLH was added to CP.
Adult onset dystonia, chorea or related movement disorder v0.51 COX15 Louise Daugherty Source London North GLH was added to COX15.
Adult onset dystonia, chorea or related movement disorder v0.51 COX10 Louise Daugherty Source London North GLH was added to COX10.
Adult onset dystonia, chorea or related movement disorder v0.51 COASY Louise Daugherty Source London North GLH was added to COASY.
Adult onset dystonia, chorea or related movement disorder v0.51 CIZ1 Louise Daugherty Source London North GLH was added to CIZ1.
Adult onset dystonia, chorea or related movement disorder v0.51 CHMP2B Louise Daugherty Source London North GLH was added to CHMP2B.
Adult onset dystonia, chorea or related movement disorder v0.51 CHCHD2 Louise Daugherty Source London North GLH was added to CHCHD2.
Adult onset dystonia, chorea or related movement disorder v0.51 CACNB4 Louise Daugherty Source London North GLH was added to CACNB4.
Adult onset dystonia, chorea or related movement disorder v0.51 CACNA1A Louise Daugherty Source London North GLH was added to CACNA1A.
Adult onset dystonia, chorea or related movement disorder v0.51 C19orf12 Louise Daugherty Source London North GLH was added to C19orf12.
Adult onset dystonia, chorea or related movement disorder v0.51 BCS1L Louise Daugherty Source London North GLH was added to BCS1L.
Adult onset dystonia, chorea or related movement disorder v0.51 BCAP31 Louise Daugherty Source London North GLH was added to BCAP31.
Adult onset dystonia, chorea or related movement disorder v0.51 ATXN1 Louise Daugherty gene: ATXN1 was added
gene: ATXN1 was added to Adult onset movement disorder. Sources: London North GLH
Mode of inheritance for gene: ATXN1 was set to
Adult onset dystonia, chorea or related movement disorder v0.51 ATP7B Louise Daugherty Source London North GLH was added to ATP7B.
Adult onset dystonia, chorea or related movement disorder v0.51 ATP1A3 Louise Daugherty Source London North GLH was added to ATP1A3.
Adult onset dystonia, chorea or related movement disorder v0.51 ATP1A2 Louise Daugherty Source London North GLH was added to ATP1A2.
Adult onset dystonia, chorea or related movement disorder v0.51 ATP13A2 Louise Daugherty Source London North GLH was added to ATP13A2.
Adult onset dystonia, chorea or related movement disorder v0.51 ATN1 Louise Daugherty Source London North GLH was added to ATN1.
Adult onset dystonia, chorea or related movement disorder v0.51 ATM Louise Daugherty Source London North GLH was added to ATM.
Adult onset dystonia, chorea or related movement disorder v0.51 APTX Louise Daugherty Source London North GLH was added to APTX.
Adult onset dystonia, chorea or related movement disorder v0.51 AP1S2 Louise Daugherty Source London North GLH was added to AP1S2.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset dystonia, chorea or related movement disorder v0.51 ANO3 Louise Daugherty Source London North GLH was added to ANO3.
Adult onset dystonia, chorea or related movement disorder v0.51 ADCY5 Louise Daugherty Source London North GLH was added to ADCY5.
Adult onset dystonia, chorea or related movement disorder v0.51 ADAR Louise Daugherty Source London North GLH was added to ADAR.
Structural eye disease v0.58 POMT2 Ivone Leong Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
Structural eye disease v0.58 POMT2 Ivone Leong Phenotypes for gene: POMT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 2, 613150
Structural eye disease v0.57 OLFM2 Ivone Leong reviewed gene: OLFM2: Rating: AMBER; Mode of pathogenicity: ; Publications: 27844144; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Structural eye disease v0.56 OLFM2 Ivone Leong Deleted their review
Structural eye disease v0.56 FKRP Ivone Leong Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 606612
Adult onset dystonia, chorea or related movement disorder v0.50 VPS37A Louise Daugherty reviewed gene: VPS37A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 UCHL1 Louise Daugherty reviewed gene: UCHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 TREX1 Louise Daugherty reviewed gene: TREX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 TREM2 Louise Daugherty reviewed gene: TREM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 TPK1 Louise Daugherty reviewed gene: TPK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 TIMM8A Louise Daugherty reviewed gene: TIMM8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 TBP Louise Daugherty reviewed gene: TBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 TAF1 Louise Daugherty reviewed gene: TAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 SUOX Louise Daugherty reviewed gene: SUOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 SNCAIP Louise Daugherty reviewed gene: SNCAIP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 SLC46A1 Louise Daugherty reviewed gene: SLC46A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 SLC41A1 Louise Daugherty reviewed gene: SLC41A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 SDHAF1 Louise Daugherty reviewed gene: SDHAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 SCP2 Louise Daugherty reviewed gene: SCP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 SCN9A Louise Daugherty reviewed gene: SCN9A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 SAMHD1 Louise Daugherty reviewed gene: SAMHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 RNASEH2C Louise Daugherty reviewed gene: RNASEH2C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 RNASEH2B Louise Daugherty reviewed gene: RNASEH2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 RNASEH2A Louise Daugherty reviewed gene: RNASEH2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 QDPR Louise Daugherty reviewed gene: QDPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 PTS Louise Daugherty reviewed gene: PTS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 PTEN Louise Daugherty reviewed gene: PTEN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 PSEN1 Louise Daugherty reviewed gene: PSEN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 PNPT1 Louise Daugherty reviewed gene: PNPT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 PLP1 Louise Daugherty reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 PDX1 Louise Daugherty reviewed gene: PDX1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 PDHX Louise Daugherty reviewed gene: PDHX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 PCDH12 Louise Daugherty reviewed gene: PCDH12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 NUP62 Louise Daugherty reviewed gene: NUP62: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 NR4A2 Louise Daugherty reviewed gene: NR4A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 NPC2 Louise Daugherty reviewed gene: NPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 NKX2-1 Louise Daugherty reviewed gene: NKX2-1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 NDUFS3 Louise Daugherty reviewed gene: NDUFS3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 NDUFA9 Louise Daugherty reviewed gene: NDUFA9: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 NDUFA2 Louise Daugherty reviewed gene: NDUFA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 NDUFA12 Louise Daugherty reviewed gene: NDUFA12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 MR1 Louise Daugherty reviewed gene: MR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 MPV17 Louise Daugherty reviewed gene: MPV17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 MMADHC Louise Daugherty reviewed gene: MMADHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 MCOLN1 Louise Daugherty reviewed gene: MCOLN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 MAT1A Louise Daugherty reviewed gene: MAT1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 L2HGDH Louise Daugherty reviewed gene: L2HGDH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 KCNK18 Louise Daugherty reviewed gene: KCNK18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 JPH3 Louise Daugherty reviewed gene: JPH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 IPPK Louise Daugherty reviewed gene: IPPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 HTT Louise Daugherty reviewed gene: HTT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 HPRT1 Louise Daugherty reviewed gene: HPRT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 HEXA Louise Daugherty reviewed gene: HEXA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 GNAL Louise Daugherty reviewed gene: GNAL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 GIGYF2 Louise Daugherty reviewed gene: GIGYF2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 GFAP Louise Daugherty reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 GAMT Louise Daugherty reviewed gene: GAMT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 FOXRED1 Louise Daugherty reviewed gene: FOXRED1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 FOXG1 Louise Daugherty reviewed gene: FOXG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 FASTKD2 Louise Daugherty reviewed gene: FASTKD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 ERCC6 Louise Daugherty reviewed gene: ERCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 EIF4G1 Louise Daugherty reviewed gene: EIF4G1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 EARS2 Louise Daugherty reviewed gene: EARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 DRD5 Louise Daugherty reviewed gene: DRD5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 DRD2 Louise Daugherty reviewed gene: DRD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 DDC Louise Daugherty reviewed gene: DDC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 DCAF10 Louise Daugherty reviewed gene: DCAF10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 CYP27A1 Louise Daugherty reviewed gene: CYP27A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 CIZ1 Louise Daugherty reviewed gene: CIZ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 CHCHD2 Louise Daugherty reviewed gene: CHCHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 C9orf72 Louise Daugherty reviewed gene: C9orf72: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 BDNF Louise Daugherty reviewed gene: BDNF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 AUH Louise Daugherty reviewed gene: AUH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 ATXN3 Louise Daugherty reviewed gene: ATXN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 ATXN2 Louise Daugherty reviewed gene: ATXN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 ATP6AP2 Louise Daugherty reviewed gene: ATP6AP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 ATN1 Louise Daugherty reviewed gene: ATN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 ARX Louise Daugherty reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 ARSA Louise Daugherty reviewed gene: ARSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 AIFM1 Louise Daugherty reviewed gene: AIFM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 AFG3L2 Louise Daugherty reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.50 ACTB Louise Daugherty reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 VPS37A Emily Jones reviewed gene: VPS37A: Rating: RED; Mode of pathogenicity: ; Publications: 22717650; Phenotypes: Spastic paraplegia 53, autosomal recessive, 614898; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 UCHL1 Emily Jones reviewed gene: UCHL1: Rating: AMBER; Mode of pathogenicity: ; Publications: 10048490, 28007905 , 29735986, 23359680 ; Phenotypes: Spastic paraplegia 79, autosomal recessive, 615491, ?{Parkinson disease 5, susceptibility to}, 613643; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 TREX1 Emily Jones reviewed gene: TREX1: Rating: RED; Mode of pathogenicity: ; Publications: 25582466; Phenotypes: Aicardi-Goutieres syndrome 1, dominant and recessive, 225750, Vasculopathy, retinal, with cerebral leukodystrophy, 192315; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v0.49 TREM2 Emily Jones reviewed gene: TREM2: Rating: RED; Mode of pathogenicity: ; Publications: 26891767; Phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, 618193, Alzheimers disease, Frontotemporal dementia; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 TPK1 Emily Jones reviewed gene: TPK1: Rating: RED; Mode of pathogenicity: ; Publications: 28431625; Phenotypes: Thiamine metabolism dysfunction syndrome 5 (episodic encephalopathy type), 614458; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 TIMM8A Emily Jones reviewed gene: TIMM8A: Rating: GREEN; Mode of pathogenicity: ; Publications: 22736418; Phenotypes: Mohr-Tranebjaerg syndrome, 304700; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 TBP Emily Jones reviewed gene: TBP: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Mohr-Tranebjaerg syndrome, 304700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset dystonia, chorea or related movement disorder v0.49 TAF1 Emily Jones reviewed gene: TAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: 12928496, http://www.ncbi.nlm.nih.gov/books/NBK1155/, 26637982, 26879577, 26637982, 17668393, 17273961, 12928496, 17273961, 23184149, 2368812, 20301662, 26769797; Phenotypes: SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250, Dystonia-Parkinsonism, X-linked, 314250, (NB complex mutation); 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 dystonia, chorea or related movement disorder v0.49 SUOX Emily Jones reviewed gene: SUOX: Rating: RED; Mode of pathogenicity: ; Publications: 28933809; Phenotypes: Sulfite oxidase deficiency, 272300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v0.49 SNCAIP Emily Jones reviewed gene: SNCAIP: Rating: RED; Mode of pathogenicity: ; Publications: 18366718, 21344240; Phenotypes: Parkinson Disease, Dominant/Recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v0.49 SLC46A1 Emily Jones reviewed gene: SLC46A1: Rating: RED; Mode of pathogenicity: ; Publications: 20301716; Phenotypes: Folate malabsorption, hereditary, 229050; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 SLC41A1 Emily Jones reviewed gene: SLC41A1: Rating: RED; Mode of pathogenicity: ; Publications: 24661466, 27612022, 26308152, 21812739, 20683486; Phenotypes: Parkinson disease (Yan (2011) Int J Neurosci 121,632); Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 SDHAF1 Emily Jones reviewed gene: SDHAF1: Rating: RED; Mode of pathogenicity: ; Publications: 27683074, 23322652; Phenotypes: Mitochondrial complex II deficiency, 252011; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 SCP2 Emily Jones reviewed gene: SCP2: Rating: RED; Mode of pathogenicity: ; Publications: 16685654, 26497993; Phenotypes: ?Leukoencephalopathy with dystonia and motor neuropathy, 613724; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 SCN9A Emily Jones reviewed gene: SCN9A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Paroxysmal extreme pain disorder, 167400, Congenital Indifference to Pain, Paroxysmal Extreme Pain Disorder, Hereditary Sensory Neuropathy, Febrile seizures, familial, 3B, 613863, Dysosteosclerosis, Epilepsy, generalized, with febrile seizures plus, type 7, 613863, Insensitivity to pain, channelopathy-associated, 243000, Erythermalgia, primary, 133020, Erythermalgia, Primary; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v0.49 SAMHD1 Emily Jones reviewed gene: SAMHD1: Rating: RED; Mode of pathogenicity: ; Publications: 20842748, 25604658; Phenotypes: Aicardi-Goutieres syndrome 5, 612952; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 RNASEH2C Emily Jones reviewed gene: RNASEH2C: Rating: RED; Mode of pathogenicity: ; Publications: 16845400, 25604658, 17846997; Phenotypes: Aicardi-Goutieres syndrome 3, 610329; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 RNASEH2B Emily Jones reviewed gene: RNASEH2B: Rating: RED; Mode of pathogenicity: ; Publications: 16845400, 25604658, 17846997; Phenotypes: Aicardi-Goutieres syndrome 2, 610181; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 RNASEH2A Emily Jones reviewed gene: RNASEH2A: Rating: RED; Mode of pathogenicity: ; Publications: 16845400, 25604658, 17846997; Phenotypes: Aicardi-Goutieres syndrome 4, 610333; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 QDPR Emily Jones reviewed gene: QDPR: Rating: AMBER; Mode of pathogenicity: ; Publications: 10677304, 26919687, 19491146 ; Phenotypes: Hyperphenylalaninemia, BH4-deficient, C, 261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v0.49 PTS Emily Jones reviewed gene: PTS: Rating: AMBER; Mode of pathogenicity: ; Publications: 26919687; Phenotypes: Hyperphenylalaninemia, BH4-deficient, A, 261640; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 PTEN Emily Jones reviewed gene: PTEN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Cowden syndrome 1, 158350, Lhermitte-Duclos syndrome, 158350, Macrocephaly/autism syndrome, 605309, VATER association with macrocephaly and ventriculomegaly, 276950; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 PSEN1 Emily Jones reviewed gene: PSEN1: Rating: RED; Mode of pathogenicity: ; Publications: 28664294, 29316780; Phenotypes: Alzheimer disease, type 3, 607822, Cardiomyopathy, dilated, 1U, 613694, Dementia, frontotemporal 600274, Pick disease, 172700; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 PNPT1 Emily Jones reviewed gene: PNPT1: Rating: RED; Mode of pathogenicity: ; Publications: 23084291, 30046113; Phenotypes: Combined oxidative phosphorylation deficiency 13, 614932; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 PLP1 Emily Jones reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: 30046645, 11093273 ; Phenotypes: Pelizaeus-Merzbacher disease, 312080, Spastic paraplegia 2, X-linked, 312920; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 PDX1 Emily Jones reviewed gene: PDX1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: MODY, type IV 606392, Pancreatic agenesis 1 260370; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v0.49 PDHX Emily Jones reviewed gene: PDHX: Rating: RED; Mode of pathogenicity: ; Publications: 20002125, 25087164; Phenotypes: Lacticacidemia due to PDX1 deficiency, 245349; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 PCDH12 Emily Jones reviewed gene: PCDH12: Rating: RED; Mode of pathogenicity: ; Publications: 30459466; Phenotypes: microcephaly, epilepsy, midbrain abnormalities, intellectual disability, hypothalamic abnormalities, perithalamic hyperechogenicity, periventricular hyperechogenicity; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v0.49 NUP62 Emily Jones reviewed gene: NUP62: Rating: RED; Mode of pathogenicity: ; Publications: 16786527, 14718703, 12374138; Phenotypes: Striatonigral degeneration, infantile 271930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v0.49 NR4A2 Emily Jones reviewed gene: NR4A2: Rating: RED; Mode of pathogenicity: ; Publications: 15184637, 12496759, 15276233, 12827450, 27012974, 24126627, 15390059, 25543265; Phenotypes: Parkinson Disease, Dominant/Recessive (susceptibility to); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v0.49 NPC2 Emily Jones reviewed gene: NPC2: Rating: RED; Mode of pathogenicity: ; Publications: 11567215; Phenotypes: Niemann-pick disease, type C2, 607625; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v0.49 NKX2-1 Emily Jones reviewed gene: NKX2-1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24555207, 24714694 ; Phenotypes: Chorea, hereditary benign 118700, Choreoathetosis, hypothyroidism, and neonatal respiratory distress; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset dystonia, chorea or related movement disorder v0.49 NDUFS3 Emily Jones reviewed gene: NDUFS3: Rating: RED; Mode of pathogenicity: ; Publications: 14729820, 19167255; Phenotypes: Mitochondrial complex I deficiency, nuclear type 8, 618230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v0.49 NDUFA9 Emily Jones reviewed gene: NDUFA9: Rating: RED; Mode of pathogenicity: ; Publications: 22114105, 28671271; Phenotypes: Mitochondrial complex I deficiency, nuclear type 26, 618247; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v0.49 NDUFA2 Emily Jones reviewed gene: NDUFA2: Rating: RED; Mode of pathogenicity: ; Publications: 18513682, 28857146, 27159321; Phenotypes: Mitochondrial complex I deficiency, nuclear type 13; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v0.49 NDUFA12 Emily Jones reviewed gene: NDUFA12: Rating: RED; Mode of pathogenicity: ; Publications: 21617257; Phenotypes: ?Mitochondrial complex I deficiency, nuclear type 23, 618244 ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v0.49 MR1 Emily Jones reviewed gene: MR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset dystonia, chorea or related movement disorder v0.49 MPV17 Emily Jones reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: ; Publications: 22593919; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), 256810; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 MMADHC Emily Jones reviewed gene: MMADHC: Rating: RED; Mode of pathogenicity: ; Publications: 20301503; Phenotypes: Homocystinuria, cblD type, variant 1, Methylmalonic aciduria, cblD type, variant 2, Methylmalonic aciduria and homocystinuria, cblD type, 277410; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 MCOLN1 Emily Jones reviewed gene: MCOLN1: Rating: RED; Mode of pathogenicity: ; Publications: 29449188; Phenotypes: Mucolipidosis IV, 252650; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 MAT1A Emily Jones reviewed gene: MAT1A: Rating: RED; Mode of pathogenicity: ; Publications: 26289392; Phenotypes: Hypermethioninemia, persistent, autosomal dominant, due to methionine adenosyltransferase I/III deficiency, 250850; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 L2HGDH Emily Jones reviewed gene: L2HGDH: Rating: RED; Mode of pathogenicity: ; Publications: 18780161; Phenotypes: L-2-hydroxyglutaric aciduria, 236792; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 KCNK18 Emily Jones reviewed gene: KCNK18: Rating: RED; Mode of pathogenicity: ; Publications: 20871611, 22355750; Phenotypes: MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 JPH3 Emily Jones reviewed gene: JPH3: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Huntington disease-like 2; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset dystonia, chorea or related movement disorder v0.49 IPPK Emily Jones reviewed gene: IPPK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v0.49 HTT Emily Jones reviewed gene: HTT: Rating: RED; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: Huntington disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset dystonia, chorea or related movement disorder v0.49 HPRT1 Emily Jones reviewed gene: HPRT1: Rating: RED; Mode of pathogenicity: ; Publications: 20176575; Phenotypes: Lesch-Nyhan syndrome, 300322; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 HEXA Emily Jones reviewed gene: HEXA: Rating: RED; Mode of pathogenicity: ; Publications: 20301397, 18642377; Phenotypes: GM2-gangliosidosis, several forms 272800, Tay-Sachs disease 272800, Hex A pseudodeficiency 272800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v0.49 GNAL Emily Jones reviewed gene: GNAL: Rating: GREEN; Mode of pathogenicity: ; Publications: 23222958, 27093447, 27222887, 24729450, 26725140, 23759320, 27123488, 24151159, 23449625, 25847575, 26810727, 24408567, http://www.ncbi.nlm.nih.gov/books/NBK1155/, 26365774, 26506956, 25382112, 24535567; Phenotypes: Dystonia 25, 615073, adult-onset cranio-cervical dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset dystonia, chorea or related movement disorder v0.49 GIGYF2 Emily Jones reviewed gene: GIGYF2: Rating: RED; Mode of pathogenicity: ; Publications: 19279319, 18358451, 19250854, 201788319, 18923002, 20060621, 20685231, 19482505, 19449032, 19321232, 26134514, 19429085, 20044296; Phenotypes: {Parkinson disease 11}, Susceptibility to Parkinson disease 11, 607688; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 GFAP Emily Jones reviewed gene: GFAP: Rating: RED; Mode of pathogenicity: ; Publications: 15732098, 14557587; Phenotypes: Alexander disease 203450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset dystonia, chorea or related movement disorder v0.49 GAMT Emily Jones reviewed gene: GAMT: Rating: RED; Mode of pathogenicity: ; Publications: 24268530; Phenotypes: Cerebral creatine deficiency syndrome 2, 612736; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 FOXRED1 Emily Jones reviewed gene: FOXRED1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 19, 618241; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 FOXG1 Emily Jones reviewed gene: FOXG1: Rating: AMBER; Mode of pathogenicity: ; Publications: 29086067, 27029630 ; Phenotypes: Rett Syndrome, congenital variant, 613454; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 FASTKD2 Emily Jones reviewed gene: FASTKD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 ERCC6 Emily Jones reviewed gene: ERCC6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 EIF4G1 Emily Jones reviewed gene: EIF4G1: Rating: AMBER; Mode of pathogenicity: ; Publications: 25368108; Phenotypes: Parkinsons disease 18, 614251; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset dystonia, chorea or related movement disorder v0.49 EARS2 Emily Jones reviewed gene: EARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 12, 614924; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 DRD5 Emily Jones reviewed gene: DRD5: Rating: RED; Mode of pathogenicity: ; Publications: 17133500, 12700316; Phenotypes: {Blepharospasm, primary benign}, 606798; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 DRD2 Emily Jones reviewed gene: DRD2: Rating: RED; Mode of pathogenicity: ; Publications: 20301587; Phenotypes: Dystonia, myoclonic, 159900; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 DDC Emily Jones reviewed gene: DDC: Rating: AMBER; Mode of pathogenicity: ; Publications: 19172410; Phenotypes: Aromatic L-amino acid decarboxylase deficiency, 608643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v0.49 DCAF10 Emily Jones reviewed gene: DCAF10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset dystonia, chorea or related movement disorder v0.49 CYP27A1 Emily Jones reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 24442603; Phenotypes: Cerebrotendinous xanthomatosis, CTX, 213700; Mode of inheritance:
Adult onset dystonia, chorea or related movement disorder v0.49 CIZ1 Emily Jones reviewed gene: CIZ1: Rating: AMBER; Mode of pathogenicity: ; Publications: 22447717; Phenotypes: Dystonia 23, 614860; Mode of inheritance: