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Neurodegenerative disorders, adult onset v1.8 KIF1A Louise Daugherty Source London North GLH was added to KIF1A.
Neurodegenerative disorders, adult onset v1.8 KIDINS220 Louise Daugherty Source London North GLH was added to KIDINS220.
Neurodegenerative disorders, adult onset v1.8 KDM5C Louise Daugherty Source London North GLH was added to KDM5C.
Neurodegenerative disorders, adult onset v1.8 KCNQ3 Louise Daugherty Source London North GLH was added to KCNQ3.
Neurodegenerative disorders, adult onset v1.8 KCNQ2 Louise Daugherty Source London North GLH was added to KCNQ2.
Neurodegenerative disorders, adult onset v1.8 KCNK18 Louise Daugherty Source London North GLH was added to KCNK18.
Neurodegenerative disorders, adult onset v1.8 KCNJ10 Louise Daugherty Source London North GLH was added to KCNJ10.
Neurodegenerative disorders, adult onset v1.8 KCNA1 Louise Daugherty Source London North GLH was added to KCNA1.
Neurodegenerative disorders, adult onset v1.8 ITPR1 Louise Daugherty Source London North GLH was added to ITPR1.
Neurodegenerative disorders, adult onset v1.8 IBA57 Louise Daugherty Source London North GLH was added to IBA57.
Neurodegenerative disorders, adult onset v1.8 HSPD1 Louise Daugherty Source London North GLH was added to HSPD1.
Neurodegenerative disorders, adult onset v1.8 HPCA Louise Daugherty Source London North GLH was added to HPCA.
Neurodegenerative disorders, adult onset 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)
Neurodegenerative disorders, adult onset v1.8 GRM1 Louise Daugherty Source London North GLH was added to GRM1.
Neurodegenerative disorders, adult onset v1.8 GRID2 Louise Daugherty Source London North GLH was added to GRID2.
Neurodegenerative disorders, adult onset v1.8 GPAA1 Louise Daugherty Source London North GLH was added to GPAA1.
Neurodegenerative disorders, adult onset v1.8 GOSR2 Louise Daugherty Source London North GLH was added to GOSR2.
Neurodegenerative disorders, adult onset v1.8 GNAO1 Louise Daugherty Source London North GLH was added to GNAO1.
Neurodegenerative disorders, adult onset v1.8 GNAL Louise Daugherty Source London North GLH was added to GNAL.
Neurodegenerative disorders, adult onset v1.8 GLRB Louise Daugherty Source London North GLH was added to GLRB.
Neurodegenerative disorders, adult onset v1.8 GLRA1 Louise Daugherty Source London North GLH was added to GLRA1.
Neurodegenerative disorders, adult onset v1.8 GJC2 Louise Daugherty Source London North GLH was added to GJC2.
Neurodegenerative disorders, adult onset v1.8 GCH1 Louise Daugherty Source London North GLH was added to GCH1.
Neurodegenerative disorders, adult onset v1.8 FXN Louise Daugherty Source London North GLH was added to FXN.
Neurodegenerative disorders, adult onset v1.8 FOLR1 Louise Daugherty Source London North GLH was added to FOLR1.
Neurodegenerative disorders, adult onset v1.8 FLVCR1 Louise Daugherty Source London North GLH was added to FLVCR1.
Neurodegenerative disorders, adult onset v1.8 FGF14 Louise Daugherty Source London North GLH was added to FGF14.
Neurodegenerative disorders, adult onset v1.8 FARS2 Louise Daugherty Source London North GLH was added to FARS2.
Neurodegenerative disorders, adult onset v1.8 FA2H Louise Daugherty Source London North GLH was added to FA2H.
Neurodegenerative disorders, adult onset v1.8 EXOSC3 Louise Daugherty Source London North GLH was added to EXOSC3.
Neurodegenerative disorders, adult onset v1.8 ERLIN2 Louise Daugherty Source London North GLH was added to ERLIN2.
Neurodegenerative disorders, adult onset v1.8 DNAJC19 Louise Daugherty Source London North GLH was added to DNAJC19.
Neurodegenerative disorders, adult onset v1.8 DMXL2 Louise Daugherty Source London North GLH was added to DMXL2.
Neurodegenerative disorders, adult onset v1.8 DDHD2 Louise Daugherty Source London North GLH was added to DDHD2.
Neurodegenerative disorders, adult onset v1.8 DDHD1 Louise Daugherty Source London North GLH was added to DDHD1.
Neurodegenerative disorders, adult onset v1.8 DCAF17 Louise Daugherty Source London North GLH was added to DCAF17.
Neurodegenerative disorders, adult onset v1.8 DARS Louise Daugherty Source London North GLH was added to DARS.
Neurodegenerative disorders, adult onset v1.8 CWF19L1 Louise Daugherty Source London North GLH was added to CWF19L1.
Neurodegenerative disorders, adult onset v1.8 CSTB Louise Daugherty Source London North GLH was added to CSTB.
Neurodegenerative disorders, adult onset v1.8 COX20 Louise Daugherty Source London North GLH was added to COX20.
Neurodegenerative disorders, adult onset v1.8 COG5 Louise Daugherty Source London North GLH was added to COG5.
Neurodegenerative disorders, adult onset v1.8 CIZ1 Louise Daugherty Source London North GLH was added to CIZ1.
Neurodegenerative disorders, adult onset v1.8 CHMP1A Louise Daugherty Source London North GLH was added to CHMP1A.
Neurodegenerative disorders, adult onset v1.8 CDK16 Louise Daugherty Source London North GLH was added to CDK16.
Neurodegenerative disorders, adult onset v1.8 CASK Louise Daugherty Source London North GLH was added to CASK.
Neurodegenerative disorders, adult onset v1.8 CAMTA1 Louise Daugherty Source London North GLH was added to CAMTA1.
Neurodegenerative disorders, adult onset v1.8 CACNB4 Louise Daugherty Source London North GLH was added to CACNB4.
Neurodegenerative disorders, adult onset v1.8 CACNA1A Louise Daugherty Source London North GLH was added to CACNA1A.
Neurodegenerative disorders, adult onset v1.8 CA8 Louise Daugherty Source London North GLH was added to CA8.
Neurodegenerative disorders, adult onset v1.8 C12orf65 Louise Daugherty Source London North GLH was added to C12orf65.
Neurodegenerative disorders, adult onset v1.8 BSCL2 Louise Daugherty Source London North GLH was added to BSCL2.
Neurodegenerative disorders, adult onset v1.8 B4GALNT1 Louise Daugherty Source London North GLH was added to B4GALNT1.
Neurodegenerative disorders, adult onset v1.8 ATP7B Louise Daugherty Source London North GLH was added to ATP7B.
Neurodegenerative disorders, adult onset v1.8 ATP1A2 Louise Daugherty Source London North GLH was added to ATP1A2.
Neurodegenerative disorders, adult onset v1.8 ATM Louise Daugherty Source London North GLH was added to ATM.
Neurodegenerative disorders, adult onset v1.8 ATL1 Louise Daugherty Source London North GLH was added to ATL1.
Neurodegenerative disorders, adult onset v1.8 ATCAY Louise Daugherty Source London North GLH was added to ATCAY.
Neurodegenerative disorders, adult onset 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)
Neurodegenerative disorders, adult onset v1.8 APTX Louise Daugherty Source London North GLH was added to APTX.
Neurodegenerative disorders, adult onset v1.8 AP4S1 Louise Daugherty Source London North GLH was added to AP4S1.
Neurodegenerative disorders, adult onset v1.8 AP4M1 Louise Daugherty Source London North GLH was added to AP4M1.
Neurodegenerative disorders, adult onset v1.8 AP4E1 Louise Daugherty Source London North GLH was added to AP4E1.
Neurodegenerative disorders, adult onset v1.8 AP4B1 Louise Daugherty Source London North GLH was added to AP4B1.
Neurodegenerative disorders, adult onset v1.8 AP1S2 Louise Daugherty Source London North GLH was added to AP1S2.
Neurodegenerative disorders, adult onset v1.8 ANO3 Louise Daugherty Source London North GLH was added to ANO3.
Neurodegenerative disorders, adult onset v1.8 ANO10 Louise Daugherty Source London North GLH was added to ANO10.
Neurodegenerative disorders, adult onset v1.8 AMPD2 Louise Daugherty Source London North GLH was added to AMPD2.
Neurodegenerative disorders, adult onset v1.8 ALDH18A1 Louise Daugherty Source London North GLH was added to ALDH18A1.
Neurodegenerative disorders, adult onset v1.8 AIMP1 Louise Daugherty Source London North GLH was added to AIMP1.
Neurodegenerative disorders, adult onset v1.8 ADCY5 Louise Daugherty Source London North GLH was added to ADCY5.
Neurodegenerative disorders, adult onset v1.8 ADAR Louise Daugherty Source London North GLH was added to ADAR.
Neurodegenerative disorders, adult onset v1.8 ABHD12 Louise Daugherty Source London North GLH was added to ABHD12.
Neurodegenerative disorders, adult onset v1.8 ABCB7 Louise Daugherty Source London North GLH was added to ABCB7.
Neurodegenerative disorders, adult onset v1.8 AAAS Louise Daugherty Source London North GLH was added to AAAS.
Neurodegenerative disorders, adult onset v1.8 CHCHD10 Louise Daugherty Source London North GLH was added to CHCHD10.
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset v1.8 WDR45 Louise Daugherty Source London North GLH was added to WDR45.
Neurodegenerative disorders, adult onset v1.8 VPS35 Louise Daugherty Source London North GLH was added to VPS35.
Neurodegenerative disorders, adult onset v1.8 VPS13A Louise Daugherty Source London North GLH was added to VPS13A.
Neurodegenerative disorders, adult onset v1.8 VCP Louise Daugherty Source London North GLH was added to VCP.
Neurodegenerative disorders, adult onset v1.8 VAPB Louise Daugherty Source London North GLH was added to VAPB.
Neurodegenerative disorders, adult onset v1.8 UBQLN2 Louise Daugherty Source London North GLH was added to UBQLN2.
Neurodegenerative disorders, adult onset v1.8 TYROBP Louise Daugherty Source London North GLH was added to TYROBP.
Neurodegenerative disorders, adult onset v1.8 TUBB4A Louise Daugherty Source London North GLH was added to TUBB4A.
Neurodegenerative disorders, adult onset v1.8 TTC19 Louise Daugherty Source London North GLH was added to TTC19.
Neurodegenerative disorders, adult onset v1.8 TREM2 Louise Daugherty Source London North GLH was added to TREM2.
Neurodegenerative disorders, adult onset v1.8 TMEM240 Louise Daugherty Source London North GLH was added to TMEM240.
Neurodegenerative disorders, adult onset v1.8 TBK1 Louise Daugherty Source London North GLH was added to TBK1.
Neurodegenerative disorders, adult onset v1.8 TARDBP Louise Daugherty Source London North GLH was added to TARDBP.
Neurodegenerative disorders, adult onset v1.8 TAF1 Louise Daugherty Source London North GLH was added to TAF1.
Neurodegenerative disorders, adult onset v1.8 SYNJ1 Louise Daugherty Source London North GLH was added to SYNJ1.
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset v1.8 SPG21 Louise Daugherty Source London North GLH was added to SPG21.
Neurodegenerative disorders, adult onset v1.8 SPG11 Louise Daugherty Source London North GLH was added to SPG11.
Neurodegenerative disorders, adult onset v1.8 SPAST Louise Daugherty Source London North GLH was added to SPAST.
Neurodegenerative disorders, adult onset v1.8 SOD1 Louise Daugherty Source London North GLH was added to SOD1.
Neurodegenerative disorders, adult onset v1.8 SNCA Louise Daugherty Source London North GLH was added to SNCA.
Neurodegenerative disorders, adult onset v1.8 SLC6A3 Louise Daugherty Source London North GLH was added to SLC6A3.
Neurodegenerative disorders, adult onset v1.8 SLC30A10 Louise Daugherty Source London North GLH was added to SLC30A10.
Neurodegenerative disorders, adult onset v1.8 SLC20A2 Louise Daugherty Source London North GLH was added to SLC20A2.
Neurodegenerative disorders, adult onset v1.8 SIGMAR1 Louise Daugherty Source London North GLH was added to SIGMAR1.
Neurodegenerative disorders, adult onset v1.8 SGCE Louise Daugherty Source London North GLH was added to SGCE.
Neurodegenerative disorders, adult onset v1.8 SETX Louise Daugherty Source London North GLH was added to SETX.
Neurodegenerative disorders, adult onset v1.8 RNF216 Louise Daugherty Source London North GLH was added to RNF216.
Neurodegenerative disorders, adult onset v1.8 PSEN2 Louise Daugherty Source London North GLH was added to PSEN2.
Neurodegenerative disorders, adult onset v1.8 PSEN1 Louise Daugherty Source London North GLH was added to PSEN1.
Neurodegenerative disorders, adult onset v1.8 PRNP Louise Daugherty Source London North GLH was added to PRNP.
Neurodegenerative disorders, adult onset v1.8 PRKRA Louise Daugherty Source London North GLH was added to PRKRA.
Neurodegenerative disorders, adult onset v1.8 PRKN Louise Daugherty Source London North GLH was added to PRKN.
Neurodegenerative disorders, adult onset v1.8 PLA2G6 Louise Daugherty Source London North GLH was added to PLA2G6.
Neurodegenerative disorders, adult onset v1.8 PINK1 Louise Daugherty Source London North GLH was added to PINK1.
Neurodegenerative disorders, adult onset v1.8 PFN1 Louise Daugherty Source London North GLH was added to PFN1.
Neurodegenerative disorders, adult onset v1.8 PDGFRB Louise Daugherty Source London North GLH was added to PDGFRB.
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset v1.8 PARK7 Louise Daugherty Source London North GLH was added to PARK7.
Neurodegenerative disorders, adult onset v1.8 PANK2 Louise Daugherty Source London North GLH was added to PANK2.
Neurodegenerative disorders, adult onset v1.8 OPTN Louise Daugherty Source London North GLH was added to OPTN.
Neurodegenerative disorders, adult onset v1.8 NPC2 Louise Daugherty Source London North GLH was added to NPC2.
Neurodegenerative disorders, adult onset v1.8 NPC1 Louise Daugherty Source London North GLH was added to NPC1.
Neurodegenerative disorders, adult onset v1.8 NOTCH3 Louise Daugherty Source London North GLH was added to NOTCH3.
Neurodegenerative disorders, adult onset v1.8 NHLRC1 Louise Daugherty Source London North GLH was added to NHLRC1.
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset v1.8 MAPT Louise Daugherty Source London North GLH was added to MAPT.
Neurodegenerative disorders, adult onset v1.8 LYST Louise Daugherty Source London North GLH was added to LYST.
Neurodegenerative disorders, adult onset v1.8 LRRK2 Louise Daugherty Source London North GLH was added to LRRK2.
Neurodegenerative disorders, adult onset v1.8 KIF5A Louise Daugherty Source London North GLH was added to KIF5A.
Neurodegenerative disorders, adult onset v1.8 KCND3 Louise Daugherty Source London North GLH was added to KCND3.
Neurodegenerative disorders, adult onset v1.8 KCNC3 Louise Daugherty Source London North GLH was added to KCNC3.
Neurodegenerative disorders, adult onset v1.8 ITM2B Louise Daugherty Source London North GLH was added to ITM2B.
Neurodegenerative disorders, adult onset v1.8 HTRA2 Louise Daugherty Source London North GLH was added to HTRA2.
Neurodegenerative disorders, adult onset v1.8 HTRA1 Louise Daugherty Source London North GLH was added to HTRA1.
Neurodegenerative disorders, adult onset v1.8 HNRNPA1 Louise Daugherty Source London North GLH was added to HNRNPA1.
Neurodegenerative disorders, adult onset v1.8 HEXB Louise Daugherty Source London North GLH was added to HEXB.
Neurodegenerative disorders, adult onset v1.8 HEXA Louise Daugherty Source London North GLH was added to HEXA.
Neurodegenerative disorders, adult onset v1.8 GRN Louise Daugherty Source London North GLH was added to GRN.
Neurodegenerative disorders, adult onset v1.8 GFAP Louise Daugherty Source London North GLH was added to GFAP.
Neurodegenerative disorders, adult onset v1.8 GBA2 Louise Daugherty Source London North GLH was added to GBA2.
Neurodegenerative disorders, adult onset v1.8 GBA Louise Daugherty Source London North GLH was added to GBA.
Neurodegenerative disorders, adult onset v1.8 FUS Louise Daugherty Source London North GLH was added to FUS.
Neurodegenerative disorders, adult onset v1.8 FTL Louise Daugherty Source London North GLH was added to FTL.
Neurodegenerative disorders, adult onset v1.8 FMR1 Louise Daugherty Source London North GLH was added to FMR1.
Neurodegenerative disorders, adult onset v1.8 FIG4 Louise Daugherty Source London North GLH was added to FIG4.
Neurodegenerative disorders, adult onset v1.8 FBXO7 Louise Daugherty Source London North GLH was added to FBXO7.
Neurodegenerative disorders, adult onset v1.8 EPM2A Louise Daugherty Source London North GLH was added to EPM2A.
Neurodegenerative disorders, adult onset v1.8 ELOVL4 Louise Daugherty Source London North GLH was added to ELOVL4.
Neurodegenerative disorders, adult onset v1.8 EIF2B5 Louise Daugherty Source London North GLH was added to EIF2B5.
Neurodegenerative disorders, adult onset v1.8 EIF2B4 Louise Daugherty Source London North GLH was added to EIF2B4.
Neurodegenerative disorders, adult onset v1.8 EIF2B3 Louise Daugherty Source London North GLH was added to EIF2B3.
Neurodegenerative disorders, adult onset v1.8 EIF2B2 Louise Daugherty Source London North GLH was added to EIF2B2.
Neurodegenerative disorders, adult onset v1.8 EIF2B1 Louise Daugherty Source London North GLH was added to EIF2B1.
Neurodegenerative disorders, adult onset v1.8 DNMT1 Louise Daugherty Source London North GLH was added to DNMT1.
Neurodegenerative disorders, adult onset v1.8 DNAJC6 Louise Daugherty Source London North GLH was added to DNAJC6.
Neurodegenerative disorders, adult onset v1.8 DNAJC5 Louise Daugherty Source London North GLH was added to DNAJC5.
Neurodegenerative disorders, adult onset v1.8 DCTN1 Louise Daugherty Source London North GLH was added to DCTN1.
Neurodegenerative disorders, adult onset v1.8 DARS2 Louise Daugherty Source London North GLH was added to DARS2.
Neurodegenerative disorders, adult onset v1.8 CYP7B1 Louise Daugherty Source London North GLH was added to CYP7B1.
Neurodegenerative disorders, adult onset v1.8 CYP2U1 Louise Daugherty Source London North GLH was added to CYP2U1.
Neurodegenerative disorders, adult onset v1.8 CYP27A1 Louise Daugherty Source London North GLH was added to CYP27A1.
Neurodegenerative disorders, adult onset v1.8 CSF1R Louise Daugherty Source London North GLH was added to CSF1R.
Neurodegenerative disorders, adult onset v1.8 CP Louise Daugherty Source London North GLH was added to CP.
Neurodegenerative disorders, adult onset v1.8 COQ8A Louise Daugherty Source London North GLH was added to COQ8A.
Neurodegenerative disorders, adult onset v1.8 COASY Louise Daugherty Source London North GLH was added to COASY.
Neurodegenerative disorders, adult onset v1.8 CLN6 Louise Daugherty Source London North GLH was added to CLN6.
Neurodegenerative disorders, adult onset v1.8 CLCN2 Louise Daugherty Source London North GLH was added to CLCN2.
Neurodegenerative disorders, adult onset v1.8 CHMP2B Louise Daugherty Source London North GLH was added to CHMP2B.
Neurodegenerative disorders, adult onset v1.8 CHCHD2 Louise Daugherty Source London North GLH was added to CHCHD2.
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset v1.8 CAPN1 Louise Daugherty Source London North GLH was added to CAPN1.
Neurodegenerative disorders, adult onset v1.8 CACNA1G Louise Daugherty Source London North GLH was added to CACNA1G.
Neurodegenerative disorders, adult onset v1.8 C19orf12 Louise Daugherty Source London North GLH was added to C19orf12.
Neurodegenerative disorders, adult onset v1.8 ATXN7 Louise Daugherty Source London North GLH was added to ATXN7.
Neurodegenerative disorders, adult onset v1.8 ATP1A3 Louise Daugherty Source London North GLH was added to ATP1A3.
Neurodegenerative disorders, adult onset v1.8 ATP13A2 Louise Daugherty Source London North GLH was added to ATP13A2.
Neurodegenerative disorders, adult onset v1.8 ARSA Louise Daugherty Source London North GLH was added to ARSA.
Neurodegenerative disorders, adult onset v1.8 APP Louise Daugherty Source London North GLH was added to APP.
Neurodegenerative disorders, adult onset v1.8 ANG Louise Daugherty Source London North GLH was added to ANG.
Neurodegenerative disorders, adult onset v1.8 ALS2 Louise Daugherty Source London North GLH was added to ALS2.
Neurodegenerative disorders, adult onset v1.8 AFG3L2 Louise Daugherty Source London North GLH was added to AFG3L2.
Neurodegenerative disorders, adult onset 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)
Neurodegenerative disorders, adult onset v1.7 VAMP1 Louise Daugherty reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 REEP2 Louise Daugherty reviewed gene: REEP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 NEFH Louise Daugherty reviewed gene: NEFH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 MVK Louise Daugherty reviewed gene: MVK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 MR1 Louise Daugherty reviewed gene: MR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 MAG Louise Daugherty reviewed gene: MAG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 KDM5C Louise Daugherty reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 KCNK18 Louise Daugherty reviewed gene: KCNK18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 IPPK Louise Daugherty reviewed gene: IPPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 IBA57 Louise Daugherty reviewed gene: IBA57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 GNAL Louise Daugherty reviewed gene: GNAL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 GCH1 Louise Daugherty reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 DRD2 Louise Daugherty reviewed gene: DRD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 DMXL2 Louise Daugherty reviewed gene: DMXL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 DLAT Louise Daugherty reviewed gene: DLAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 DDC Louise Daugherty reviewed gene: DDC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 DARS Louise Daugherty reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 DAB1 Louise Daugherty reviewed gene: DAB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 COG5 Louise Daugherty reviewed gene: COG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 CLP1 Louise Daugherty reviewed gene: CLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 CIZ1 Louise Daugherty reviewed gene: CIZ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 CHCHD2 Louise Daugherty reviewed gene: CHCHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 CHCHD10 Louise Daugherty reviewed gene: CHCHD10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 CDK16 Louise Daugherty reviewed gene: CDK16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 CCT5 Louise Daugherty reviewed gene: CCT5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 CCDC88C Louise Daugherty reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 C9orf72 Louise Daugherty reviewed gene: C9orf72: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 BCAP31 Louise Daugherty reviewed gene: BCAP31: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 AUH Louise Daugherty reviewed gene: AUH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 ATXN8 Louise Daugherty reviewed gene: ATXN8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 ATXN7 Louise Daugherty reviewed gene: ATXN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 ATXN3 Louise Daugherty reviewed gene: ATXN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 ATXN2 Louise Daugherty reviewed gene: ATXN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 ATXN10 Louise Daugherty reviewed gene: ATXN10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 ATXN1 Louise Daugherty reviewed gene: ATXN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 ATP8A2 Louise Daugherty reviewed gene: ATP8A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 ATP6AP2 Louise Daugherty reviewed gene: ATP6AP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 ATP2B3 Louise Daugherty reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 ATN1 Louise Daugherty reviewed gene: ATN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 ARX Louise Daugherty reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 ARSI Louise Daugherty reviewed gene: ARSI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 ARL6IP1 Louise Daugherty reviewed gene: ARL6IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 AP5Z1 Louise Daugherty reviewed gene: AP5Z1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 ALAS2 Louise Daugherty reviewed gene: ALAS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 ACTB Louise Daugherty reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset v1.7 AARS Louise Daugherty reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset 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)
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset v1.6 DRD2 Anthony Dallosso reviewed gene: DRD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, myoclonic, 159900; Mode of inheritance: Unknown
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset v1.6 DLAT Anthony Dallosso reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance: Unknown
Neurodegenerative disorders, adult onset v1.6 DDC Anthony Dallosso reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance: Unknown
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset v1.6 CIZ1 Anthony Dallosso reviewed gene: CIZ1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia 23, 614860; Mode of inheritance: Unknown
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset v1.6 AUH Anthony Dallosso reviewed gene: AUH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance: Unknown
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset v1.6 ATXN7 Anthony Dallosso reviewed gene: ATXN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia 7,164500; Mode of inheritance: Unknown
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset v1.6 ATXN10 Anthony Dallosso reviewed gene: ATXN10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia10, 603516; Mode of inheritance: Unknown
Neurodegenerative disorders, adult onset v1.6 ATXN1 Anthony Dallosso reviewed gene: ATXN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia1, 164400; Mode of inheritance: Unknown
Neurodegenerative disorders, adult onset v1.6 ATP8A2 Anthony Dallosso reviewed gene: ATP8A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset v1.6 ATP2B3 Anthony Dallosso reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, X-linked 1; Mode of inheritance: Unknown
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset v1.6 ARX Anthony Dallosso reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance: Unknown
Neurodegenerative disorders, adult onset v1.6 ARSI Anthony Dallosso reviewed gene: ARSI: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset v1.6 ARL6IP1 Anthony Dallosso reviewed gene: ARL6IP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset 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)
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset 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
Neurodegenerative disorders, adult onset v1.4 VAMP1 Louise Daugherty Source South West GLH was added to VAMP1.
Neurodegenerative disorders, adult onset v1.4 REEP2 Louise Daugherty Source South West GLH was added to REEP2.
Neurodegenerative disorders, adult onset v1.4 NEFH Louise Daugherty Source South West GLH was added to NEFH.
Neurodegenerative disorders, adult onset v1.4 MVK Louise Daugherty Source South West GLH was added to MVK.
Neurodegenerative disorders, adult onset v1.4 MR1 Louise Daugherty Source South West GLH was added to MR1.
Neurodegenerative disorders, adult onset v1.4 MAG Louise Daugherty Source South West GLH was added to MAG.
Neurodegenerative disorders, adult onset v1.4 KDM5C Louise Daugherty Source South West GLH was added to KDM5C.
Neurodegenerative disorders, adult onset v1.4 KCNK18 Louise Daugherty Source South West GLH was added to KCNK18.
Neurodegenerative disorders, adult onset v1.4 IPPK Louise Daugherty Source South West GLH was added to IPPK.
Neurodegenerative disorders, adult onset v1.4 IBA57 Louise Daugherty Source South West GLH was added to IBA57.
Neurodegenerative disorders, adult onset v1.4 GNAL Louise Daugherty Source South West GLH was added to GNAL.
Neurodegenerative disorders, adult onset v1.4 GCH1 Louise Daugherty Source South West GLH was added to GCH1.
Neurodegenerative disorders, adult onset v1.4 DRD2 Louise Daugherty Source South West GLH was added to DRD2.
Neurodegenerative disorders, adult onset v1.4 DMXL2 Louise Daugherty Source South West GLH was added to DMXL2.
Neurodegenerative disorders, adult onset v1.4 DLAT Louise Daugherty Source South West GLH was added to DLAT.
Neurodegenerative disorders, adult onset v1.4 DDC Louise Daugherty Source South West GLH was added to DDC.
Neurodegenerative disorders, adult onset v1.4 DARS Louise Daugherty Source South West GLH was added to DARS.
Neurodegenerative disorders, adult onset v1.4 DAB1 Louise Daugherty Source South West GLH was added to DAB1.
Neurodegenerative disorders, adult onset v1.4 COG5 Louise Daugherty Source South West GLH was added to COG5.
Neurodegenerative disorders, adult onset v1.4 CLP1 Louise Daugherty Source South West GLH was added to CLP1.
Neurodegenerative disorders, adult onset v1.4 CIZ1 Louise Daugherty Source South West GLH was added to CIZ1.
Neurodegenerative disorders, adult onset v1.4 CHCHD2 Louise Daugherty Source South West GLH was added to CHCHD2.
Neurodegenerative disorders, adult onset v1.4 CHCHD10 Louise Daugherty Source South West GLH was added to CHCHD10.
Neurodegenerative disorders, adult onset v1.4 CDK16 Louise Daugherty Source South West GLH was added to CDK16.
Neurodegenerative disorders, adult onset v1.4 CCT5 Louise Daugherty Source South West GLH was added to CCT5.
Neurodegenerative disorders, adult onset v1.4 CCDC88C Louise Daugherty Source South West GLH was added to CCDC88C.
Neurodegenerative disorders, adult onset v1.4 C9orf72 Louise Daugherty Source South West GLH was added to C9orf72.
Neurodegenerative disorders, adult onset v1.4 BCAP31 Louise Daugherty Source South West GLH was added to BCAP31.
Neurodegenerative disorders, adult onset v1.4 AUH Louise Daugherty Source South West GLH was added to AUH.
Neurodegenerative disorders, adult onset v1.4 ATXN8 Louise Daugherty Source South West GLH was added to ATXN8.
Neurodegenerative disorders, adult onset v1.4 ATXN7 Louise Daugherty Source South West GLH was added to ATXN7.
Neurodegenerative disorders, adult onset v1.4 ATXN3 Louise Daugherty Source South West GLH was added to ATXN3.
Neurodegenerative disorders, adult onset v1.4 ATXN2 Louise Daugherty Source South West GLH was added to ATXN2.
Neurodegenerative disorders, adult onset v1.4 ATXN10 Louise Daugherty Source South West GLH was added to ATXN10.
Neurodegenerative disorders, adult onset v1.4 ATXN1 Louise Daugherty Source South West GLH was added to ATXN1.
Neurodegenerative disorders, adult onset v1.4 ATP8A2 Louise Daugherty Source South West GLH was added to ATP8A2.
Neurodegenerative disorders, adult onset v1.4 ATP6AP2 Louise Daugherty Source South West GLH was added to ATP6AP2.
Neurodegenerative disorders, adult onset v1.4 ATP2B3 Louise Daugherty Source South West GLH was added to ATP2B3.
Neurodegenerative disorders, adult onset v1.4 ATN1 Louise Daugherty Source South West GLH was added to ATN1.
Neurodegenerative disorders, adult onset v1.4 ARX Louise Daugherty Source South West GLH was added to ARX.
Neurodegenerative disorders, adult onset v1.4 ARSI Louise Daugherty Source South West GLH was added to ARSI.
Neurodegenerative disorders, adult onset v1.4 ARL6IP1 Louise Daugherty Source South West GLH was added to ARL6IP1.
Neurodegenerative disorders, adult onset v1.4 AP5Z1 Louise Daugherty Source South West GLH was added to AP5Z1.
Neurodegenerative disorders, adult onset v1.4 ALAS2 Louise Daugherty Source South West GLH was added to ALAS2.
Neurodegenerative disorders, adult onset v1.4 ACTB Louise Daugherty Source South West GLH was added to ACTB.
Neurodegenerative disorders, adult onset v1.4 AARS Louise Daugherty Source South West GLH was added to AARS.
Neurodegenerative disorders, adult onset v1.3 NT5C2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green; rating was updated from Red to Green on the 'Hereditary spastic paraplegia' panel after curation from Sarah Leigh and advice from Helen Brittain. 'Hereditary spastic paraplegia' is a component panel of 'Neurodegenerative disorders - adult onset'.
Neurodegenerative disorders, adult onset v0.153 ERLIN1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.
Neurodegenerative disorders, adult onset v0.152 HACE1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Amber to Green following review on the Hereditary spastic paraplegia panel.
Neurodegenerative disorders, adult onset v0.146 CAMTA1 Louise Daugherty Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia, nonprogressive, with mentalretardation, 614756 to Cerebellarataxia, nonprogressive, with mental retardation, 614756
Neurodegenerative disorders, adult onset v0.145 CAMTA1 Louise Daugherty Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia,nonprogressive,withmentalretardation,614756 3 to Cerebellarataxia, nonprogressive, with mentalretardation, 614756
Neurodegenerative disorders, adult onset v0.144 CASK Louise Daugherty Phenotypes for gene: CASK were changed from to FG syndrome 4, 300422; Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
Neurodegenerative disorders, adult onset v0.138 DARS2 Louise Daugherty Phenotypes for gene: DARS2 were changed from to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Neurodegenerative disorders, adult onset v0.127 MMACHC Louise Daugherty Phenotypes for gene: MMACHC were changed from Ataxia and hypogonadism (AR), Also Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400) to Ataxia and hypogonadism; Methylmalonic aciduria and homocystinuria, cblC type, 277400
Neurodegenerative disorders, adult onset v0.125 OPHN1 Louise Daugherty Phenotypes for gene: OPHN1 were changed from to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
Neurodegenerative disorders, adult onset v0.116 EIF2B2 Louise Daugherty Phenotypes for gene: EIF2B2 were changed from Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Leukoencephalopathy with vanishing white matter, 603896
Neurodegenerative disorders, adult onset v0.114 TWNK Louise Daugherty Phenotypes for gene: TWNK were changed from Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders (Dominant) to Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders, Dominant; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286; Perrault syndrome 5, 616138; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245
Neurodegenerative disorders, adult onset v0.113 VLDLR Louise Daugherty Phenotypes for gene: VLDLR were changed from to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050
Neurodegenerative disorders, adult onset v0.102 RAB3GAP2 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red following review on the Hereditary spastic paraplegia panel.
Neurodegenerative disorders, adult onset v0.99 KLC4 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red following review on the Hereditary spastic paraplegia panel.
Neurodegenerative disorders, adult onset v0.98 KDM5C Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Neurodegenerative disorders, adult onset v0.97 KDM5C Rebecca Foulger Phenotypes for gene: KDM5C were changed from Intellectual disability; developmental delay; progressive spasticity; epilepsy; hypothyroidism to Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534; Intellectual disability; developmental delay; progressive spasticity; epilepsy; hypothyroidism
Neurodegenerative disorders, adult onset v0.96 HACE1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Neurodegenerative disorders, adult onset v0.95 HACE1 Rebecca Foulger Phenotypes for gene: HACE1 were changed from Spastic paraplegia; psychomotor retardation; seizure to Spastic paraplegia; psychomotor retardation; seizure; Spastic paraplegia and psychomotor retardation with or without seizures, 616756
Neurodegenerative disorders, adult onset v0.93 DARS Rebecca Foulger Phenotypes for gene: DARS were changed from Brain stem and spinal cord Hypomyelination; leg spasticity to Brain stem and spinal cord Hypomyelination; leg spasticity; Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281
Neurodegenerative disorders, adult onset v0.92 DARS Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Amber following review on the Hereditary spastic paraplegia panel.
Neurodegenerative disorders, adult onset v0.91 CYP27A1 Rebecca Foulger Phenotypes for gene: CYP27A1 were changed from Dystonia; progressive lower extremity spasticity,often disproportionate to any degree of weakness to Cerebrotendinous xanthomatosis, 213700; progressive lower extremity spasticity,often disproportionate to any degree of weakness
Neurodegenerative disorders, adult onset v0.83 ARG1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.
Neurodegenerative disorders, adult onset v0.80 ABCD1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.
Neurodegenerative disorders, adult onset v0.78 AR_CAG Louise Daugherty edited their review of STR: AR_CAG: Changed rating: GREEN
Neurodegenerative disorders, adult onset v0.78 AR_CAG Louise Daugherty STR: AR_CAG was added
STR: AR_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: AR_CAG.
Mode of inheritance for STR: AR_CAG was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for STR: AR_CAG were set to Spinal and bulbar muscular atrophy or Kennedy diseases 313200
Added comment: Source PanelApp panels : Amyotrophic lateral sclerosis/motor neuron disease v1.26
Sources: Expert list
Neurodegenerative disorders, adult onset v0.76 ATN1_CAG Louise Daugherty STR: ATN1_CAG was added
STR: ATN1_CAG was added to Neurodegenerative disorders - 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: Source PanelApp panels : Hereditary ataxia v1.150, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Brain channelopathy v1.48, Parkinson Disease and Complex Parkinsonism v1.64.
Sources: Expert list
Neurodegenerative disorders, adult onset v0.63 CSTB_CCCCGCCCCGCG Louise Daugherty STR: CSTB_CCCCGCCCCGCG was added
STR: CSTB_CCCCGCCCCGCG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: CSTB_CCCCGCCCCGCG.
Mode of inheritance for STR: CSTB_CCCCGCCCCGCG was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for STR: CSTB_CCCCGCCCCGCG were set to Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Review for STR: CSTB_CCCCGCCCCGCG was set to GREEN
Added comment: Source PanelApp panels : Brain channelopathy v1.48, Hereditary ataxia v1.150.
Sources: Expert list
Neurodegenerative disorders, adult onset v0.53 CACNA1A_CAG Louise Daugherty STR: CACNA1A_CAG was added
STR: CACNA1A_CAG was added to Neurodegenerative disorders - 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: Source PanelApp panels : Hereditary ataxia v1.148, Brain channelopathy v1.46, Hereditary spastic paraplegia v1.141.
Sources: Expert list
Neurodegenerative disorders, adult onset v0.36 TBP_CAG Louise Daugherty STR: TBP_CAG was added
STR: TBP_CAG was added to Neurodegenerative disorders - 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
Publications for STR: TBP_CAG were set to 20301611
Phenotypes for STR: TBP_CAG were set to Spinocerebellar ataxia 17 607136
Review for STR: TBP_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia v1.148, Parkinson Disease and Complex Parkinsonism v1.64, Hereditary spastic paraplegia v1.141, Brain channelopathy v1.46, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.45
Sources: Expert list
Neurodegenerative disorders, adult onset v0.35 LRRK2 Rebecca Foulger Mode of pathogenicity for gene: LRRK2 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Neurodegenerative disorders, adult onset v0.34 TUBB4A Rebecca Foulger Mode of pathogenicity for gene: TUBB4A was changed from to Other
Neurodegenerative disorders, adult onset v0.33 SOD1 Rebecca Foulger Mode of pathogenicity for gene: SOD1 was changed from to Other
Neurodegenerative disorders, adult onset v0.32 SNCA Rebecca Foulger Mode of pathogenicity for gene: SNCA was changed from to Other
Neurodegenerative disorders, adult onset v0.31 ITPR1 Rebecca Foulger Mode of pathogenicity for gene: ITPR1 was changed from to Other
Neurodegenerative disorders, adult onset v0.30 CACNA1G Rebecca Foulger Mode of pathogenicity for gene: CACNA1G was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Neurodegenerative disorders, adult onset v0.29 AR Rebecca Foulger Mode of pathogenicity for gene: AR was changed from to Other
Neurodegenerative disorders, adult onset v0.28 AFG3L2 Rebecca Foulger Mode of pathogenicity for gene: AFG3L2 was changed from to Other
Neurodegenerative disorders, adult onset v0.27 SLC2A1 Rebecca Foulger Phenotypes for gene: SLC2A1 were changed from GLUT1 DEFICIENCY SYNDROME 1; dystonia 9; GLUT1 deficiency syndrome 1, infantile onset, severe; EPILEPSY, IDIOPATHIC GENERALIZED; Dystonia; GLUT1 deficiency syndrome 2, childhood onset; GLUT1 deficiency syndrome 1, 606777; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2 to GLUT1 DEFICIENCY SYNDROME 1; dystonia 9; GLUT1 deficiency syndrome 1, infantile onset, severe; EPILEPSY, IDIOPATHIC GENERALIZED; Dystonia; GLUT1 deficiency syndrome 2, childhood onset; GLUT1 deficiency syndrome 1, 606777; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2; spastic paraplegia
Neurodegenerative disorders, adult onset v0.25 RAB3GAP2 Rebecca Foulger Gene: rab3gap2 has been removed from the panel.
Neurodegenerative disorders, adult onset v0.22 LYST Rebecca Foulger Phenotypes for gene: LYST were changed from Chediak-Higashi syndrome 214500; peripheral neuropathy; Parkinsonism; albinism to Chediak-Higashi syndrome 214500; peripheral neuropathy; Parkinsonism; albinism; spastic paraplegia
Neurodegenerative disorders, adult onset v0.21 KLC4 Rebecca Foulger Gene: klc4 has been removed from the panel.
Neurodegenerative disorders, adult onset v0.19 KDM5C Rebecca Foulger Gene: kdm5c has been removed from the panel.
Neurodegenerative disorders, adult onset v0.18 KDM5C Rebecca Foulger gene: KDM5C was added
gene: KDM5C was added to Neurodegenerative disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: KDM5C were set to 10982473; 15586325; 26919706
Phenotypes for gene: KDM5C were set to Intellectual disability; developmental delay; progressive spasticity; epilepsy; hypothyroidism
Neurodegenerative disorders, adult onset v0.17 HACE1 Rebecca Foulger Gene: hace1 has been removed from the panel.
Neurodegenerative disorders, adult onset v0.15 ERLIN1 Rebecca Foulger Gene: erlin1 has been removed from the panel.
Neurodegenerative disorders, adult onset v0.13 DARS Rebecca Foulger Gene: dars has been removed from the panel.
Neurodegenerative disorders, adult onset v0.7 ARG1 Rebecca Foulger Gene: arg1 has been removed from the panel.
Neurodegenerative disorders, adult onset v0.5 ABCD1 Rebecca Foulger Gene: abcd1 has been removed from the panel.
Neurodegenerative disorders, adult onset v0.4 ABCD1 Rebecca Foulger gene: ABCD1 was added
gene: ABCD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: ABCD1 were set to 11810273; 27084228; 11739809; 26049658
Phenotypes for gene: ABCD1 were set to Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation
Neurodegenerative disorders, adult onset v0.2 TH Rebecca Foulger Tag treatable tag was added to gene: TH.
Neurodegenerative disorders, adult onset v0.2 ISCA-37468-Loss Rebecca Foulger Region: ISCA-37468-Loss was added
Region: ISCA-37468-Loss was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37468-Loss was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than females)
Publications for Region: ISCA-37468-Loss were set to 23414621; 22365943; 20485326
Phenotypes for Region: ISCA-37468-Loss were set to hypotonia; exiting behavior; autistic features; eleveated serotonin levels; stereotypical hand movements; severe intellectual disability; short stature; episodes of sudden loss of muscle tone; lip-smacking
Neurodegenerative disorders, adult onset v0.2 ZFYVE26 Rebecca Foulger Added phenotypes Autosomal recessive spastic paraplegia 15 (#270700) complex form of the disease including ataxia. Pyle et al. (2015), Brain, 138, pp.276-283. Implicated in undiagnosed ataxia. for gene: ZFYVE26
Neurodegenerative disorders, adult onset v0.2 XRCC1 Rebecca Foulger gene: XRCC1 was added
gene: XRCC1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: XRCC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: XRCC1 were set to 28002403
Phenotypes for gene: XRCC1 were set to ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia
Neurodegenerative disorders, adult onset v0.2 WDR45 Rebecca Foulger gene: WDR45 was added
gene: WDR45 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: WDR45 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: WDR45 were set to Dystonia; beta-propeller protein-associated neurodegeneration
Neurodegenerative disorders, adult onset v0.2 VPS13A Rebecca Foulger Added phenotypes Complex parkinsonism; 200150; Choreoacanthocytosis for gene: VPS13A
Neurodegenerative disorders, adult onset v0.2 VCP Rebecca Foulger Added phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 for gene: VCP
Neurodegenerative disorders, adult onset v0.2 VCP Rebecca Foulger gene: VCP was added
gene: VCP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: VCP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VCP were set to 26511028; 25618255; 27178390; 25457024; 23881933; 25492614
Phenotypes for gene: VCP were set to Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954; familial amyotrophic lateral sclerosis (ALS14); Amyotrophic Lateral Sclerosis, Dominant
Neurodegenerative disorders, adult onset v0.2 UCHL1 Rebecca Foulger Added phenotypes Early onset ataxia and optic neuropathy for gene: UCHL1
Neurodegenerative disorders, adult onset v0.2 UCHL1 Rebecca Foulger gene: UCHL1 was added
gene: UCHL1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: UCHL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: UCHL1 were set to PMID: 23359680
Phenotypes for gene: UCHL1 were set to ?{Parkinson disease 5, susceptibility to}
Neurodegenerative disorders, adult onset v0.2 UBQLN2 Rebecca Foulger Added phenotypes Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857 for gene: UBQLN2
Neurodegenerative disorders, adult onset v0.2 UBQLN2 Rebecca Foulger gene: UBQLN2 was added
gene: UBQLN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: UBQLN2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: UBQLN2 were set to Amyotrophic Lateral Sclerosis, Dominant; Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857
Neurodegenerative disorders, adult onset v0.2 TWNK Rebecca Foulger gene: TWNK was added
gene: TWNK was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TWNK were set to Spinocerebellar Ataxia, Recessive; Ataxia Neuropathy Spectrum Disorders (Dominant)
Neurodegenerative disorders, adult onset v0.2 TUBB4A Rebecca Foulger Added phenotypes Implicated autosomal dominant variants in two families with ataxia; Torsion dystonia 4 (128101) - some individuals with ataxia; hypomyelinating leukodystrophy 6 (612438) - ataxia reported. for gene: TUBB4A
Neurodegenerative disorders, adult onset v0.2 TTPA Rebecca Foulger gene: TTPA was added
gene: TTPA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency; Ataxia with Vitamin E Deficiency
Neurodegenerative disorders, adult onset v0.2 TIMM8A Rebecca Foulger gene: TIMM8A was added
gene: TIMM8A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: TIMM8A was set to Unknown
Phenotypes for gene: TIMM8A were set to Deafness-Dystonia-Optic Neuronopathy Syndrome
Neurodegenerative disorders, adult onset v0.2 THAP1 Rebecca Foulger Added phenotypes Dystonia; Dystonia 6, torsion, 602629; DYT6 for gene: THAP1
Neurodegenerative disorders, adult onset v0.2 THAP1 Rebecca Foulger gene: THAP1 was added
gene: THAP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: THAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: THAP1 were set to 21793105; http://www.ncbi.nlm.nih.gov/books/NBK1155/
Phenotypes for gene: THAP1 were set to Dystonia; Dystonia 6, torsion, 602629
Neurodegenerative disorders, adult onset v0.2 TH Rebecca Foulger Added phenotypes DOPA-responsive dystonia; Segawa syndrome; Segawa syndrome, recessive, 605407; paediatric form of dopa responsive dystonia for gene: TH
Neurodegenerative disorders, adult onset v0.2 TH Rebecca Foulger gene: TH was added
gene: TH was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TH were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/
Phenotypes for gene: TH were set to infantile parkinsonism; Segawa syndrome, recessive, 605407; paediatric form of dopa responsive dystonia
Neurodegenerative disorders, adult onset v0.2 TDP1 Rebecca Foulger gene: TDP1 was added
gene: TDP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: TDP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TDP1 were set to Spinocerebellar ataxia, autosomal recessive with axonal neuropathy
Neurodegenerative disorders, adult onset v0.2 TARDBP Rebecca Foulger gene: TARDBP was added
gene: TARDBP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TARDBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TARDBP were set to 23881933; 20697052
Phenotypes for gene: TARDBP were set to Amyotrophic lateral sclerosis 10, with or without FTD, 612069; Amyotrophic Lateral Sclerosis, Dominant
Neurodegenerative disorders, adult onset v0.2 TAF1 Rebecca Foulger gene: TAF1 was added
gene: TAF1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: TAF1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: TAF1 were set to PMID: 12928496; PMID: 26637982; 17273961; PMID: 26879577; PMID: 17273961; 12928496; PMID: 26769797; 17668393; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 20301662; 26637982; PMID: 23184149; PMID: 2368812
Phenotypes for gene: TAF1 were set to SVA retrotransposon insertion Dystonia-Parkinsonism, X-linked, 314250; Dystonia-Parkinsonism, X-linked, 314250
Neurodegenerative disorders, adult onset v0.2 SPTBN2 Rebecca Foulger gene: SPTBN2 was added
gene: SPTBN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SPTBN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SPTBN2 were set to SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14; Spinocerebellar Ataxia, Dominant; Spinocerebellar ataxia, autosomal recessive 14; SPINOCEREBELLAR ATAXIA 5 (autosomal dominant); Spinocerebellar ataxia 5
Neurodegenerative disorders, adult onset v0.2 SPR Rebecca Foulger gene: SPR was added
gene: SPR was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SPR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SPR were set to http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22522443
Phenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716; paediatric form of dopa responsive dystonia; Dopa-Responsive Dystonia
Neurodegenerative disorders, adult onset v0.2 SPG7 Rebecca Foulger Added phenotypes Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia for gene: SPG7
Neurodegenerative disorders, adult onset v0.2 SNCA Rebecca Foulger gene: SNCA was added
gene: SNCA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SNCA was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SNCA were set to Autosomal dominant Parkinson's disease with alpha-synuclein rearrangements (PARK1/4); Parkinson disease 4, 605543; Parkinson disease 1, 168601; Dementia, Lewy body, 127750
Neurodegenerative disorders, adult onset v0.2 SLC9A6 Rebecca Foulger gene: SLC9A6 was added
gene: SLC9A6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC9A6 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders, adult onset v0.2 SLC6A5 Rebecca Foulger gene: SLC6A5 was added
gene: SLC6A5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC6A5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC6A5 were set to 16751771
Phenotypes for gene: SLC6A5 were set to 614618 HYPEREKPLEXIA 3
Neurodegenerative disorders, adult onset v0.2 SLC41A1 Rebecca Foulger gene: SLC41A1 was added
gene: SLC41A1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SLC41A1 was set to Unknown
Publications for gene: SLC41A1 were set to 24661466 - A novel heterozygous variant (R244H) reported in the SLC41A1 gene was identified in one early onset PD patient, which not present either in 479 PD patients or 525 normal controls with age onset >50; 27612022 and 26308152 - reduced risk of PD association; 21812739 and 20683486 novel heterozygous variants identified in PD patients
Phenotypes for gene: SLC41A1 were set to Parkinson disease (Yan (2011) Int J Neurosci 121,632)
Neurodegenerative disorders, adult onset v0.2 SLC39A14 Rebecca Foulger Added phenotypes Hypermanganesemia with dystonia 2 617013 for gene: SLC39A14
Neurodegenerative disorders, adult onset v0.2 SLC39A14 Rebecca Foulger gene: SLC39A14 was added
gene: SLC39A14 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2 617013
Neurodegenerative disorders, adult onset v0.2 SLC30A10 Rebecca Foulger Added phenotypes hypermanganesemia with dystonia-1 (HMNDYT1), increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, Brain MRI shows hyperintensities in the basal ganglia; Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, andChronic Liver Disease; Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease for gene: SLC30A10
Neurodegenerative disorders, adult onset v0.2 SLC30A10 Rebecca Foulger gene: SLC30A10 was added
gene: SLC30A10 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC30A10 were set to 25778823; 22341972; 22934317; 22926781; 22341971
Phenotypes for gene: SLC30A10 were set to Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, andChronic Liver Disease; Hypermanganesemia with dystonia, polycythemia, and cirrhosis, 613280
Neurodegenerative disorders, adult onset v0.2 SLC2A1 Rebecca Foulger Added phenotypes GLUT1 DEFICIENCY SYNDROME 1; dystonia 9; EPILEPSY, IDIOPATHIC GENERALIZED; paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia for gene: SLC2A1
Neurodegenerative disorders, adult onset v0.2 SLC2A1 Rebecca Foulger gene: SLC2A1 was added
gene: SLC2A1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SLC2A1 were set to 19630075; 18451999; 18577546
Neurodegenerative disorders, adult onset v0.2 SLC25A46 Rebecca Foulger gene: SLC25A46 was added
gene: SLC25A46 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC25A46 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC25A46 were set to 26168012; 28369803
Phenotypes for gene: SLC25A46 were set to Neuropathy, hereditary motor and sensory, type VIB 616505
Neurodegenerative disorders, adult onset v0.2 SLC1A4 Rebecca Foulger gene: SLC1A4 was added
gene: SLC1A4 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC1A4 were set to 29989513; 26138499; 27193218; 26041762; 25930971
Phenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657
Neurodegenerative disorders, adult onset v0.2 SIGMAR1 Rebecca Foulger gene: SIGMAR1 was added
gene: SIGMAR1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SIGMAR1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SIGMAR1 were set to PMID: 26078401 - c.151+1G>T variant in SIGMARI resulted in a 60 bp deletion in the transcript, and segrated with the distal hereditary motor neuropathy in a Chinese family.; PubMed: 21842496 - E102Q variant identified in a Saudi Arabian family to be associated with amyotrophic lateral sclerosis 16, juvenile; PMID: 26088964 is a commentary on PMID: 25678561 raising a lack of evidence for SIGMARI to be pathogenic, and that previous reports of patients with SIGMARI variants were also shown to harbour C9orf72 expansions; PMID: 26088963 - in reply, authors state that there is in vitro and in vivo evidence, and expression evidence, and that a case reported did not have the C9orf72 expansion; PMID: 26205306 one family report for association with Amyotrophic lateral sclerosis and c.672*31A>G (rs4879809) - the C9ORF72 repeat region in intron 1, previously implicated in a related phenotype, was excluded through linkage, and further confirmation of exclusion was obtained by amplifying intron 1 of C9ORF72 with multiple primers in affected individuals and controls
Phenotypes for gene: SIGMAR1 were set to Amyotrophic lateral sclerosis 16, juvenile, 614373
Neurodegenerative disorders, adult onset v0.2 SETX Rebecca Foulger gene: SETX was added
gene: SETX was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SETX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: SETX were set to 22577233; 23129421; 23881933 (putative disease causing variants reported in Table 1).
Phenotypes for gene: SETX were set to Ataxia-ocular apraxia-2; ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia
Neurodegenerative disorders, adult onset v0.2 SERAC1 Rebecca Foulger Added phenotypes Dystonia; MEGDHEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; MEGDEL syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 for gene: SERAC1
Neurodegenerative disorders, adult onset v0.2 SERAC1 Rebecca Foulger gene: SERAC1 was added
gene: SERAC1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SERAC1 were set to 22683713; 28778788; 27604308; 16527507; 28482397; 29205472; 27186703
Phenotypes for gene: SERAC1 were set to MEGDHEL syndrome; 3-MEthylGlutaconic aciduria, Dystonia-Deafness, Hepatopathy, Encephalopathy, Leigh-like syndrome; MEGDEL syndrome; 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739
Neurodegenerative disorders, adult onset v0.2 SCP2 Rebecca Foulger gene: SCP2 was added
gene: SCP2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SCP2 was set to Unknown
Publications for gene: SCP2 were set to PMID: 16685654
Phenotypes for gene: SCP2 were set to Leukoencephalopathy with dystonia and motor neuropathy, 613724
Neurodegenerative disorders, adult onset v0.2 SCN9A Rebecca Foulger gene: SCN9A was added
gene: SCN9A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SCN9A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: SCN9A were set to Erythermalgia, primary, 133020; Epilepsy, generalized, with febrile seizures plus, type 7, 613863; Congenital Indifference to Pain; Paroxysmal Extreme Pain Disorder; Dysosteosclerosis; Insensitivity to pain, channelopathy-associated, 243000; Hereditary Sensory Neuropathy; Paroxysmal extreme pain disorder, 167400; Febrile seizures, familial, 3B, 613863; Erythermalgia, Primary
Neurodegenerative disorders, adult onset v0.2 SCN8A Rebecca Foulger Added phenotypes Cognitive impairment with or without cerebellar ataxia, 614306 for gene: SCN8A
Neurodegenerative disorders, adult onset v0.2 REEP2 Rebecca Foulger gene: REEP2 was added
gene: REEP2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: REEP2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: REEP2 were set to 24388663
Phenotypes for gene: REEP2 were set to ?Spastic paraplegia 72, autosomal recessive, 615625; ?Spastic paraplegia 72, autosomal dominant,615625
Neurodegenerative disorders, adult onset v0.2 RAB39B Rebecca Foulger gene: RAB39B was added
gene: RAB39B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: RAB39B was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Publications for gene: RAB39B were set to 26399558; 27066548; 27459931; 2639955; 25434005; 27694831
Phenotypes for gene: RAB39B were set to early-onset parkinsonism and intellectual disability; ?Waisman syndrome
Neurodegenerative disorders, adult onset v0.2 PSEN1 Rebecca Foulger Added phenotypes Alzheimer disease, type 3, with spastic paraparesis and unusual plaques; Alzheimer disease, type 3, with spastic paraparesis and apraxia for gene: PSEN1
Neurodegenerative disorders, adult onset v0.2 PSEN1 Rebecca Foulger gene: PSEN1 was added
gene: PSEN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSEN1 were set to 22503161; 23028126
Phenotypes for gene: PSEN1 were set to Acne inversa, familial, 3, 613737; Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, 607822; Alzheimer disease, type 3, with spastic paraparesis and apraxia, 607822; Dementia, frontotemporal, 600274; Pick disease, 172700; Clinical syndrome Alzheimer disease; Alzheimer disease, type 3, 607822; Cardiomyopathy, dilated, 1U, 613694
Neurodegenerative disorders, adult onset v0.2 PRRT2 Rebecca Foulger Added phenotypes dystonia and occasionally hemiplegic migraine and epilepsy; CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS; SEIZURES, BENIGN FAMILIAL INFANTILE, 2; EPISODIC KINESIGENIC DYSKINESIA 1; episodic kinesigenic dyskinesia for gene: PRRT2
Neurodegenerative disorders, adult onset v0.2 PRRT2 Rebecca Foulger gene: PRRT2 was added
gene: PRRT2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PRRT2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRRT2 were set to 22120146; 22399141; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22101681; 22744660
Phenotypes for gene: PRRT2 were set to Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions; Episodic kinesigenic dyskinesia 1, 128200
Neurodegenerative disorders, adult onset v0.2 PRKRA Rebecca Foulger gene: PRKRA was added
gene: PRKRA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PRKRA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKRA were set to 18420150 - a novel heterozygous variant c.266_267delAT; 25914261; 26990861; 22842711; 24142417 - Compound heterozygous variants were reported in a patient with early onset dystonia c.665C>T (p.P222L) inherited from his mother, and c.637T>C (p.C213R) was a novel mutation; 25142429 In a Polish family, the homozygous p.Pro222Leu mutation segregated with autosomal-recessive, early-onset generalized dystonia and slight parkinsonism; 22842711 describes the clinical features of three original cases with homozygous PRKRA variants - the patients presented with either a pure generalised dystonia or with a dystonia-parkinsonism that was relatively unresponsive to L-dopa; 18243799; 25142429; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 18420150; p.H89fsX20 was reported in a proband with early childhood-onset leg dystonia (though testing in the parents was not mentioned).; 24142417; 25737287 Compound het variants (c.G230C (p.Cys77Ser), and in exon 7, c.G638T (p.Cys213Phe)) identified in the two affected siblings reported with dystonia without parkinsonism, unaffected family members were heterozygous; PMID: 26990861 - c.665C>T homozygous variant was identified in 3 affected siblings with Early-Onset Generalized Dystonia-Parkinsonism (and was heterozygous in the unaffected patients and an unaffected sibling). It was confirmed by Sanger sequencing and had a frequency of 0.01% in the Exome Aggregation Consortium database, predicted to be deleterious by 2 of 6 in silico tools. They showed it was within a founder haplotype shared by all previoulsy reported cases. The Authors state Screening of PRKRA is warranted in all patients with early-onset generalized dystonia, or dystonia parkinsonism compatible with autosomal recessive inheritance; 18243799 - two unrelated families with members with an apparent autosomal recessive, novel, young-onset, generalised form of dystonia parkinsonism. A region of homozygosity was found in all affected individuals, and narrowed down to the homozygous variant c.665C>T (P222L); 25737287
Phenotypes for gene: PRKRA were set to Dystonia 16; early-onset generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa; Early-Onset Generalized Dystonia-Parkinsonism; Early Onset Complex Disease
Neurodegenerative disorders, adult onset v0.2 PRICKLE1 Rebecca Foulger gene: PRICKLE1 was added
gene: PRICKLE1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: PRICKLE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PRICKLE1 were set to Progressive Myoclonus Epilepsy with Ataxia
Neurodegenerative disorders, adult onset v0.2 POLR3A Rebecca Foulger Added phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Autosomal Recessive Ataxia for gene: POLR3A
Neurodegenerative disorders, adult onset v0.2 POLR3A Rebecca Foulger gene: POLR3A was added
gene: POLR3A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3A were set to 25655951; 21855841
Phenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Autosomal Recessive Ataxia
Neurodegenerative disorders, adult onset v0.2 POLG Rebecca Foulger gene: POLG was added
gene: POLG was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: POLG were set to Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
Neurodegenerative disorders, adult onset v0.2 PNKP Rebecca Foulger gene: PNKP was added
gene: PNKP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PNKP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PNKP were set to Ataxia with oculomotor apraxia 4 (#616267)
Neurodegenerative disorders, adult onset v0.2 PLA2G6 Rebecca Foulger Added phenotypes Infantile neuroaxonal dystrophy 1 (#256600); Parkinson disease 14 (#612953); Neurodegeneration with brain iron accumulation 2B (#610217) for gene: PLA2G6
Neurodegenerative disorders, adult onset v0.2 PLA2G6 Rebecca Foulger gene: PLA2G6 was added
gene: PLA2G6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PLA2G6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PLA2G6 were set to Neurodegeneration with brain iron accumulation 2B, 610217; Infantile neuroaxonal dystrophy 1, 256600; Parkinson disease 14, 612953; Early Onset Complex Disease
Neurodegenerative disorders, adult onset v0.2 PCLO Rebecca Foulger gene: PCLO was added
gene: PCLO was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: PCLO was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCLO were set to PMID: 25832664
Phenotypes for gene: PCLO were set to Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree.
Neurodegenerative disorders, adult onset v0.2 PCDH12 Rebecca Foulger Added phenotypes microcephaly; intellectual disability; perithalamic hyperechogenicity; hypothalamic abnormalities; periventricular hyperechogenicity; epilepsy; midbrain abnormalities for gene: PCDH12
Neurodegenerative disorders, adult onset v0.2 PCDH12 Rebecca Foulger gene: PCDH12 was added
gene: PCDH12 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PCDH12 were set to 27164683
Phenotypes for gene: PCDH12 were set to microcephaly; intellectual disability; perithalamic hyperechogenicity; hypothalamic abnormalities; periventricular hyperechogenicity; epilepsy; midbrain abnormalities
Neurodegenerative disorders, adult onset v0.2 PANK2 Rebecca Foulger Added phenotypes pantothenate kinase-associated neurodegeneration; Dystonia; Neurodegeneration with brain iron accumulation 1; 234200; Early Onset Complex Disease for gene: PANK2
Neurodegenerative disorders, adult onset v0.2 PANK2 Rebecca Foulger gene: PANK2 was added
gene: PANK2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PANK2 were set to Dystonia; pantothenate kinase-associated neurodegeneration
Neurodegenerative disorders, adult onset v0.2 OPTN Rebecca Foulger gene: OPTN was added
gene: OPTN was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: OPTN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: OPTN were set to PMID: 25943890; (iii) It is not uncommon for multiple ALS-causing mutations to occur in the same patient; (ii) optineurin protein is present in a subset of the extramotor inclusions of C9ORF72-ALS; PMID: 26203661; PMID: 25859013 - functional evidence; PMID: 25681989; PMID: 26303227 We conclude that: (i) OPTN mutations are associated with ALS; PMID: 26503823; PMID: 26566915 - Here, we report a Chinese family spanning three generations with ALS8 caused by the same VAPB-P56S mutation detected in these cohorts, but which in its initial manifestation displays different features. We also detected a R545Q variant of optineurin (OPTN) in this family and which was previously considered a pathogenic mutation. However, our analysis showed that OPTN-R545Q is benign and that VAPB-P56S accounts for the phenotype.; and (iv) studies of optineurin are likely to provide useful dataregarding the pathophysiology of ALS and neurodegeneration.
Phenotypes for gene: OPTN were set to Glaucoma 1, open angle, E, 137760; Amyotrophic Lateral Sclerosis, Recessive
Neurodegenerative disorders, adult onset v0.2 OPHN1 Rebecca Foulger gene: OPHN1 was added
gene: OPHN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders, adult onset v0.2 OPA3 Rebecca Foulger Added phenotypes Costeff syndrome; 3-methylglutaconic aciduria, type III, 258501 for gene: OPA3
Neurodegenerative disorders, adult onset v0.2 OPA3 Rebecca Foulger Added phenotypes Costeff syndrome; 3-methylglutaconic aciduria, type III, 258501 for gene: OPA3
Neurodegenerative disorders, adult onset v0.2 OPA3 Rebecca Foulger gene: OPA3 was added
gene: OPA3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: OPA3 were set to 25201222; 25657044; 11668429; 20301646; 24944951
Phenotypes for gene: OPA3 were set to Costeff syndrome; 3-methylglutaconic aciduria, type III, 258501
Neurodegenerative disorders, adult onset v0.2 NOP56 Rebecca Foulger gene: NOP56 was added
gene: NOP56 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: NOP56 was set to Other - please specifiy in evaluation comments
Phenotypes for gene: NOP56 were set to Spinocerebellarataxia36,614153
Neurodegenerative disorders, adult onset v0.2 NKX6-2 Rebecca Foulger Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 for gene: NKX6-2
Neurodegenerative disorders, adult onset v0.2 NKX6-2 Rebecca Foulger Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 for gene: NKX6-2
Neurodegenerative disorders, adult onset v0.2 NKX6-2 Rebecca Foulger gene: NKX6-2 was added
gene: NKX6-2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NKX6-2 were set to 15601927; 28575651
Phenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
Neurodegenerative disorders, adult onset v0.2 NKX2-1 Rebecca Foulger gene: NKX2-1 was added
gene: NKX2-1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: NKX2-1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: NKX2-1 were set to 24555207
Phenotypes for gene: NKX2-1 were set to Chorea, hereditary benign 118700; Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978
Neurodegenerative disorders, adult onset v0.2 NAGLU Rebecca Foulger gene: NAGLU was added
gene: NAGLU was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: NAGLU was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: NAGLU were set to PMID: 25818867
Phenotypes for gene: NAGLU were set to Sensory neuropathy turning into a mild sensory ataxia (AD). Also Sanfilippo syndrome B (AR) (OMIM #252920)
Neurodegenerative disorders, adult onset v0.2 MT-ATP6 Rebecca Foulger gene: MT-ATP6 was added
gene: MT-ATP6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene gene: MT-ATP6 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ATP6 were set to Neuropathy, Ataxia, and Retinitis Pigmentosa
Neurodegenerative disorders, adult onset v0.2 MMACHC Rebecca Foulger gene: MMACHC was added
gene: MMACHC was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MMACHC were set to PMID: 26283149
Phenotypes for gene: MMACHC were set to Ataxia and hypogonadism (AR), Also Methylmalonic aciduria and homocystinuria (AR) (OMIM #277400)
Neurodegenerative disorders, adult onset v0.2 MECR Rebecca Foulger gene: MECR was added
gene: MECR was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: MECR was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MECR were set to Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282
Neurodegenerative disorders, adult onset v0.2 MAPT Rebecca Foulger Added phenotypes Dementia, frontotemporal, with or without parkinsonism, 600274; Tauopathy and r; Supranuclear palsy, progressive, 601104; clinical presentation suggestive of cortico-basal/PSP syndrome; PARKINSON-DEMENTIA SYNDROME; {Parkinson disease, susceptibility to}, 168600; Pick disease, 172700; Supranuclear palsy, progressive atypical, 260540 for gene: MAPT
Neurodegenerative disorders, adult onset v0.2 MAPT Rebecca Foulger gene: MAPT was added
gene: MAPT was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: MAPT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: MAPT were set to 20301678; 28334843
Phenotypes for gene: MAPT were set to Dementia, frontotemporal, with or without parkinsonism, 600274; Clinical syndrome FTLD (Frontotemporal lobar degeneration)
Neurodegenerative disorders, adult onset v0.2 LYST Rebecca Foulger gene: LYST was added
gene: LYST was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: LYST were set to 23436631; 11857544; 9215680; 8896560; 9215679
Phenotypes for gene: LYST were set to Chediak-Higashi syndrome 214500; peripheral neuropathy; Parkinsonism; albinism
Neurodegenerative disorders, adult onset v0.2 KCNK18 Rebecca Foulger gene: KCNK18 was added
gene: KCNK18 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: KCNK18 was set to Unknown
Publications for gene: KCNK18 were set to 22355750; 20871611
Phenotypes for gene: KCNK18 were set to MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13
Neurodegenerative disorders, adult onset v0.2 KCNA1 Rebecca Foulger gene: KCNA1 was added
gene: KCNA1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KCNA1 were set to 17575281
Phenotypes for gene: KCNA1 were set to myokymia with periodic ataxia; EPISODIC ATAXIA, TYPE 1
Neurodegenerative disorders, adult onset v0.2 HTRA2 Rebecca Foulger gene: HTRA2 was added
gene: HTRA2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: HTRA2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: HTRA2 were set to 15961413; 27696117; 23462481; 18364387; 27208207; 18401856
Phenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII 617248
Neurodegenerative disorders, adult onset v0.2 HPCA Rebecca Foulger gene: HPCA was added
gene: HPCA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: HPCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HPCA were set to 30145809; 25799108
Phenotypes for gene: HPCA were set to Dystonia 2, torsion, autosomal recessive, 224500; generalized dystonia with additional neurological features; adolescence-onset segmental dystonia; childhood-onset generalized dystonia
Neurodegenerative disorders, adult onset v0.2 HNRNPA1 Rebecca Foulger Added phenotypes ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal for gene: HNRNPA1
Neurodegenerative disorders, adult onset v0.2 HNRNPA1 Rebecca Foulger gene: HNRNPA1 was added
gene: HNRNPA1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: HNRNPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: HNRNPA1 were set to ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal
Neurodegenerative disorders, adult onset v0.2 GRN Rebecca Foulger Added phenotypes clinical presentation suggestive of cortico-basal/PSP syndrome; Complex parkinsonism; frontotemporal lobar degeneration with TDP43 inclusions for gene: GRN
Neurodegenerative disorders, adult onset v0.2 GPAA1 Rebecca Foulger gene: GPAA1 was added
gene: GPAA1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GPAA1 were set to 29100095; 24896178
Phenotypes for gene: GPAA1 were set to Glycosylphosphatidylinositol biosynthesis defect 15, 617810
Neurodegenerative disorders, adult onset v0.2 GNAO1 Rebecca Foulger gene: GNAO1 was added
gene: GNAO1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: GNAO1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNAO1 were set to 25966631; 27068059; 27625011; 28357411; 26060304
Phenotypes for gene: GNAO1 were set to Neurodevelopmental disorder with involuntary movements, 617493
Neurodegenerative disorders, adult onset v0.2 GLRA1 Rebecca Foulger gene: GLRA1 was added
gene: GLRA1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: GLRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GLRA1 were set to 20301437
Phenotypes for gene: GLRA1 were set to 149400 HYPEREKPLEXIA, HEREDITARY 1
Neurodegenerative disorders, adult onset v0.2 GJC2 Rebecca Foulger gene: GJC2 was added
gene: GJC2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GJC2 were set to Orthmann-Murphy et al. (2009)
Phenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2; Autosomal Recessive Ataxia
Neurodegenerative disorders, adult onset v0.2 GCH1 Rebecca Foulger Source Expert Review Amber was added to GCH1.
Added phenotypes Dystonia; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; progressive spastic paraplegia; Spastic paraplegia for gene: GCH1
Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Neurodegenerative disorders, adult onset v0.2 GCH1 Rebecca Foulger Added phenotypes Hyperphenylalaninemia, BH4-deficient, B, 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dopa-Responsive Dystonia (DRD) for gene: GCH1
Neurodegenerative disorders, adult onset v0.2 GCH1 Rebecca Foulger gene: GCH1 was added
gene: GCH1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: GCH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GCH1 were set to 24509643; 21935284; http://www.ncbi.nlm.nih.gov/books/NBK1155/
Phenotypes for gene: GCH1 were set to Hyperphenylalaninemia, BH4-deficient, B, 233910; Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230; Dopa-Responsive Dystonia (DRD)
Neurodegenerative disorders, adult onset v0.2 GBA Rebecca Foulger gene: GBA was added
gene: GBA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: GBA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: GBA were set to 29400127; 27779773; 27632223; 27648471; 27717005
Phenotypes for gene: GBA were set to {Parkinson disease, late-onset, susceptibility to}, 168600
Neurodegenerative disorders, adult onset v0.2 FXN Rebecca Foulger gene: FXN was added
gene: FXN was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: FXN was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FXN were set to Friedreichataxia,229300Friedreichataxiawithretainedreflexes,229300
Neurodegenerative disorders, adult onset v0.2 FUS Rebecca Foulger gene: FUS was added
gene: FUS was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: FUS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FUS were set to Amyotrophic lateral sclerosis 6, autosomal recessive, with or without frontotemporal; Amyotrophic Lateral Sclerosis, Dominant
Neurodegenerative disorders, adult onset v0.2 FTL Rebecca Foulger Added phenotypes Neurodegeneration with brain iron accumulation 3 for gene: FTL
Neurodegenerative disorders, adult onset v0.2 FTL Rebecca Foulger gene: FTL was added
gene: FTL was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: FTL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FTL were set to 24209436; http://www.ncbi.nlm.nih.gov/pubmed/24209436
Phenotypes for gene: FTL were set to Neurodegeneration with brain iron accumulation 3; movement disorder
Neurodegenerative disorders, adult onset v0.2 FMR1 Rebecca Foulger gene: FMR1 was added
gene: FMR1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: FMR1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: FMR1 were set to FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI); males with a tremor phenotype; FragileXtremor/ataxiasyndrome,300623
Neurodegenerative disorders, adult onset v0.2 FLVCR1 Rebecca Foulger gene: FLVCR1 was added
gene: FLVCR1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: FLVCR1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FLVCR1 were set to Posterior Column Ataxia with Retinitis Pigmentosa; Ataxia, posterior column, with retinitis pigmentosa,
Neurodegenerative disorders, adult onset v0.2 FIG4 Rebecca Foulger gene: FIG4 was added
gene: FIG4 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: FIG4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: FIG4 were set to PMID: 19118816
Phenotypes for gene: FIG4 were set to Charcot-Marie-Tooth disease, type 4J, 611228; Amyotrophic Lateral Sclerosis, Dominant
Neurodegenerative disorders, adult onset v0.2 ERLIN2 Rebecca Foulger gene: ERLIN2 was added
gene: ERLIN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ERLIN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: ERLIN2 were set to 21796390; 21330303; 23085305; 27824013; 25977983; 29528531; 23897027; 23109142; 28832565; 22554690; 23109145
Phenotypes for gene: ERLIN2 were set to neurodegeneration; hereditary spastic paraplegia; Spastic paraplegia 18, autosomal recessive, 611225; Spastic paraplegia, autosomal dominant
Neurodegenerative disorders, adult onset v0.2 EIF2B5 Rebecca Foulger gene: EIF2B5 was added
gene: EIF2B5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: EIF2B5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B5 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Neurodegenerative disorders, adult onset v0.2 EIF2B4 Rebecca Foulger gene: EIF2B4 was added
gene: EIF2B4 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: EIF2B4 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B4 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Neurodegenerative disorders, adult onset v0.2 EIF2B3 Rebecca Foulger gene: EIF2B3 was added
gene: EIF2B3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: EIF2B3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B3 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Neurodegenerative disorders, adult onset v0.2 EIF2B2 Rebecca Foulger gene: EIF2B2 was added
gene: EIF2B2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: EIF2B2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B2 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Neurodegenerative disorders, adult onset v0.2 EIF2B1 Rebecca Foulger gene: EIF2B1 was added
gene: EIF2B1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: EIF2B1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: EIF2B1 were set to Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease; Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter
Neurodegenerative disorders, adult onset v0.2 DYNC1H1 Rebecca Foulger gene: DYNC1H1 was added
gene: DYNC1H1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: DYNC1H1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: DYNC1H1 were set to Charcot Marie Tooth, SMA, Intellectual disability
Neurodegenerative disorders, adult onset v0.2 DNMT1 Rebecca Foulger gene: DNMT1 was added
gene: DNMT1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: DNMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DNMT1 were set to 23365052
Phenotypes for gene: DNMT1 were set to Dementia, Deafness, and Sensory Neuropathy
Neurodegenerative disorders, adult onset v0.2 DNAJC19 Rebecca Foulger gene: DNAJC19 was added
gene: DNAJC19 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: DNAJC19 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC19 were set to 16055927; 27604308; 27426421; 22797137; 27928778
Phenotypes for gene: DNAJC19 were set to 3-methylglutaconic aciduria, type V 610198; dilated cardiomyopathy with ataxia (DCMA) syndrome
Neurodegenerative disorders, adult onset v0.2 DDHD2 Rebecca Foulger Added phenotypes Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132. for gene: DDHD2
Neurodegenerative disorders, adult onset v0.2 DCTN1 Rebecca Foulger Added phenotypes Neuropathy, distal hereditary motor, type VIIB for gene: DCTN1
Neurodegenerative disorders, adult onset v0.2 DCTN1 Rebecca Foulger gene: DCTN1 was added
gene: DCTN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: DCTN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: DCTN1 were set to 20945553 (Gene Reviews); 24343258; 20437543; 19136952; 27132499; 27346608; 26954557; 25109764
Phenotypes for gene: DCTN1 were set to Neuropathy, distal hereditary motor, type VIIB, 607641; Perry syndrome, 168605; {Amyotrophic lateral sclerosis, susceptibility to}, 105400
Neurodegenerative disorders, adult onset v0.2 CSF1R Rebecca Foulger Added phenotypes dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy; diffuse leukoencephalopathy with spheroids for gene: CSF1R
Neurodegenerative disorders, adult onset v0.2 COG5 Rebecca Foulger gene: COG5 was added
gene: COG5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: COG5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: COG5 were set to 19690088; 28960046
Phenotypes for gene: COG5 were set to Congenital disorder of glycosylation, type IIi 613612
Neurodegenerative disorders, adult onset v0.2 COASY Rebecca Foulger gene: COASY was added
gene: COASY was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: COASY were set to 27021474
Phenotypes for gene: COASY were set to COASY protein-associated neurodegeneration; Neurodegeneration with brain iron accumulation 6
Neurodegenerative disorders, adult onset v0.2 CLCN2 Rebecca Foulger gene: CLCN2 was added
gene: CLCN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CLCN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: CLCN2 were set to 19191339; 23707145
Phenotypes for gene: CLCN2 were set to {Epilepsy, juvenile absence, susceptibility to, 2}, 607628; {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628; {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628; Leukoencephalopathy with ataxia, 615651
Neurodegenerative disorders, adult onset v0.2 CHMP2B Rebecca Foulger gene: CHMP2B was added
gene: CHMP2B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CHMP2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CHMP2B were set to PMID: 20352044 - We conclude that in a population drawn from North of England pathogenic CHMP2B mutations are found in approximately 1% of cases of ALS and 10% of those with lower motor neuron predominant ALS. We provide a body of evidence indicating the likely pathogenicity of the reported gene alterations. However, absolute confirmation of pathogenicity requires further evidence, including documentation of familial transmission in ALS pedigrees which might be most fruitfully explored in cases with a LMN predominant phenotype.
Phenotypes for gene: CHMP2B were set to Dementia, familial, nonspecific, 600795Amyotrophic lateral sclerosis 17, 614696; Frontotemporal Dementia
Neurodegenerative disorders, adult onset v0.2 CHCHD2 Rebecca Foulger gene: CHCHD2 was added
gene: CHCHD2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: CHCHD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CHCHD2 were set to 26067110; Funayama, M., Ohe, K., Amo, T., Furuya, N., Yamaguchi, J., Saiki, S., Li, Y., Ogaki, K., Ando, M., Yoshino, H., Tomiyama, H., Nishioka, K., and 12 others. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol. 14: 274-282, 2015; 25662902; 26067114
Phenotypes for gene: CHCHD2 were set to Parkinson disease 22, autosomal dominant; 616710
Neurodegenerative disorders, adult onset v0.2 CHCHD10 Rebecca Foulger Added phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 for gene: CHCHD10
Neurodegenerative disorders, adult onset v0.2 CHCHD10 Rebecca Foulger gene: CHCHD10 was added
gene: CHCHD10 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: CHCHD10 was set to Unknown
Phenotypes for gene: CHCHD10 were set to ?Myopathy, isolated mitochondrial, autosomal dominant, 616209
Neurodegenerative disorders, adult onset v0.2 CCT5 Rebecca Foulger gene: CCT5 was added
gene: CCT5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: CCT5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CCT5 were set to Neuropathy, hereditary sensory, with spastic paraplegia; Sensory Neuropathy with Spastic Paraplegia
Neurodegenerative disorders, adult onset v0.2 CASK Rebecca Foulger gene: CASK was added
gene: CASK was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders, adult onset v0.2 CAMTA1 Rebecca Foulger gene: CAMTA1 was added
gene: CAMTA1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CAMTA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: CAMTA1 were set to Cerebellarataxia,nonprogressive,withmentalretardation,614756 3
Neurodegenerative disorders, adult onset v0.2 CACNB4 Rebecca Foulger gene: CACNB4 was added
gene: CACNB4 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CACNB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CACNB4 were set to 10762541; PMC1378014
Phenotypes for gene: CACNB4 were set to EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9; EPISODIC ATAXIA, TYPE 5
Neurodegenerative disorders, adult onset v0.2 CACNA1A Rebecca Foulger gene: CACNA1A was added
gene: CACNA1A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CACNA1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: CACNA1A were set to 21734179; 17575281
Phenotypes for gene: CACNA1A were set to Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia; Spinocerebellar ataxia 6; Episodic ataxia, type 2
Neurodegenerative disorders, adult onset v0.2 CA8 Rebecca Foulger gene: CA8 was added
gene: CA8 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CA8 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CA8 were set to Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
Neurodegenerative disorders, adult onset v0.2 C19orf12 Rebecca Foulger Added phenotypes mitochondrial membrane protein-associated neurodegeneration; Dystonia; neurodegeneration with brain iron accumulation-4 for gene: C19orf12
Neurodegenerative disorders, adult onset v0.2 C19orf12 Rebecca Foulger gene: C19orf12 was added
gene: C19orf12 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C19orf12 were set to Landoure (2013)
Phenotypes for gene: C19orf12 were set to mitochondrial membrane protein-associated neurodegeneration; Dystonia; Neurodegeneration with brain iron accumulation 4
Neurodegenerative disorders, adult onset v0.2 ATP6AP2 Rebecca Foulger gene: ATP6AP2 was added
gene: ATP6AP2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: ATP6AP2 were set to 23595882
Phenotypes for gene: ATP6AP2 were set to ?Parkinsonism with spasticity, X-linked 300911; Mental retardation, X-linked, syndromic, Hedera type 300423
Neurodegenerative disorders, adult onset v0.2 APTX Rebecca Foulger Added phenotypes Ataxia with Oculomotor Apraxia; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia for gene: APTX
Neurodegenerative disorders, adult onset v0.2 AP1S2 Rebecca Foulger gene: AP1S2 was added
gene: AP1S2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders, adult onset v0.2 ANO3 Rebecca Foulger gene: ANO3 was added
gene: ANO3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ANO3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANO3 were set to 25847575; 24442708; 27392807; 24094724 Rare variants in ANO3 are not a susceptibility factor in essential tremor; 24151159 Low frequency missense variants in ANO3 occur in both cases and controls, warranting further assessment of this gene in PTD pathogenesis; 23200863
Phenotypes for gene: ANO3 were set to Dystonia 24, 615034; familial form of cranio-cervical dystonia
Neurodegenerative disorders, adult onset v0.2 ANG Rebecca Foulger gene: ANG was added
gene: ANG was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ANG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ANG were set to PMID: 26255299 - meta-analysis concluding that the K17I variant increases the risk for ALS and familial ALS but not sporadic ALS in Caucasian patients; PMID: 25372031 functional investigation of ANG variants.; PMID: 25907842 - 31 Chinese Han families with familial amyotrophic lateral sclerosis were screened but no ANG gene variants were found, suggesting it is a rare cause of ALS in this population; PMID: 26753798 - meta-analysis reporting that the rs11701 SNP is not associated with ALS
Phenotypes for gene: ANG were set to Amyotrophic lateral sclerosis 9, 611895; Amyotrophic Lateral Sclerosis, Dominant; familial amyotrophic lateral sclerosis (ALS9)
Neurodegenerative disorders, adult onset v0.2 ALDH18A1 Rebecca Foulger gene: ALDH18A1 was added
gene: ALDH18A1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ALDH18A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: ALDH18A1 were set to Spastic paraplegia 9A, autosomal dominant; ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT; Spastic paraplegia 9B, autosomal recessive CUTIS LAXA, AUTOSOMAL DOMINANT 3; SPG9
Neurodegenerative disorders, adult onset v0.2 ALAS2 Rebecca Foulger gene: ALAS2 was added
gene: ALAS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ALAS2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Neurodegenerative disorders, adult onset v0.2 AFG3L2 Rebecca Foulger gene: AFG3L2 was added
gene: AFG3L2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: AFG3L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: AFG3L2 were set to Ataxia, spastic, 5, autosomal recessive; Spastic ataxia 5, autosomal recessive
Neurodegenerative disorders, adult onset v0.2 ADCY5 Rebecca Foulger gene: ADCY5 was added
gene: ADCY5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ADCY5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ADCY5 were set to 11310626; 24700542
Phenotypes for gene: ADCY5 were set to dystonia; Dyskinesia, familial, with facial myokymia, 606703
Neurodegenerative disorders, adult onset v0.2 ABHD12 Rebecca Foulger gene: ABHD12 was added
gene: ABHD12 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ABHD12 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ABHD12 were set to Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC); Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Neurodegenerative disorders, adult onset v0.2 ABCB7 Rebecca Foulger gene: ABCB7 was added
gene: ABCB7 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes for gene: ABCB7 were set to Anemia, sideroblastic, with ataxia,; Sideroblastic Anemia and Ataxia