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Adult onset neurodegenerative disorder v1.70 PRPH Louise Daugherty Mode of inheritance for gene PRPH was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes 170710; Amyotrophic lateral sclerosis, susceptibility to for gene: PRPH
Publications for gene PRPH were changed from to 25299611; 15446584; 15322088
Adult onset neurodegenerative disorder v1.70 NEK1 Louise Daugherty Mode of inheritance for gene NEK1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Amyotrophic lateral sclerosis, susceptibility to, 24; 617892 for gene: NEK1
Publications for gene NEK1 were changed from to 29650794; 26945885; 30093141
Adult onset neurodegenerative disorder v1.70 MATR3 Louise Daugherty Mode of inheritance for gene MATR3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Amyotrophic lateral sclerosis 21 for gene: MATR3
Publications for gene MATR3 were changed from to 25771394; 26493020; 28029397
Adult onset neurodegenerative disorder v1.70 HNRNPA2B1 Louise Daugherty Mode of inheritance for gene HNRNPA2B1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Amyotrophic lateral sclerosis for gene: HNRNPA2B1
Publications for gene HNRNPA2B1 were changed from to 25299611; 23455423; 27773581
Adult onset neurodegenerative disorder v1.70 EWSR1 Louise Daugherty Mode of inheritance for gene EWSR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Amyotrophic lateral sclerosis for gene: EWSR1
Publications for gene EWSR1 were changed from to 29170628; 22454397
Adult onset neurodegenerative disorder v1.70 DAO Louise Daugherty Mode of inheritance for gene DAO was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Amyotrophic lateral sclerosis for gene: DAO
Publications for gene DAO were changed from to 29194436; 20368421
Adult onset neurodegenerative disorder v1.70 ARHGEF28 Louise Daugherty Mode of inheritance for gene ARHGEF28 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added phenotypes Amyotrophic lateral sclerosis for gene: ARHGEF28
Publications for gene ARHGEF28 were changed from to 23286752; 24712971; 28709720; 27154192
Adult onset neurodegenerative disorder v1.70 ANXA11 Louise Daugherty Mode of inheritance for gene ANXA11 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Amytrophic lateral sclerosis 23; 617839 for gene: ANXA11
Publications for gene ANXA11 were changed from to 28469040; 30337194; 29845112
Adult onset neurodegenerative disorder v1.70 SS18L1 Louise Daugherty Mode of inheritance for gene SS18L1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added phenotypes Amyotrophic lateral sclerosis 105400 for gene: SS18L1
Publications for gene SS18L1 were changed from to 23708140; 24360741
Adult onset neurodegenerative disorder v1.69 VPS53 Louise Daugherty Source NHS GMS was added to VPS53.
Adult onset neurodegenerative disorder v1.69 TBP Louise Daugherty Source NHS GMS was added to TBP.
Adult onset neurodegenerative disorder v1.69 SNCB Louise Daugherty Source NHS GMS was added to SNCB.
Adult onset neurodegenerative disorder v1.69 PPP2R2B Louise Daugherty Source NHS GMS was added to PPP2R2B.
Adult onset neurodegenerative disorder v1.69 NT5C2 Louise Daugherty Source NHS GMS was added to NT5C2.
Adult onset neurodegenerative disorder v1.69 NR4A2 Louise Daugherty Source NHS GMS was added to NR4A2.
Adult onset neurodegenerative disorder v1.69 NOP56 Louise Daugherty Source NHS GMS was added to NOP56.
Adult onset neurodegenerative disorder v1.69 NKX2-1 Louise Daugherty Source NHS GMS was added to NKX2-1.
Adult onset neurodegenerative disorder v1.69 NDUFA12 Louise Daugherty Source NHS GMS was added to NDUFA12.
Adult onset neurodegenerative disorder v1.69 NAGLU Louise Daugherty Source NHS GMS was added to NAGLU.
Adult onset neurodegenerative disorder v1.69 MTPAP Louise Daugherty Source NHS GMS was added to MTPAP.
Adult onset neurodegenerative disorder v1.69 MT-ND6 Louise Daugherty Source NHS GMS was added to MT-ND6.
Adult onset neurodegenerative disorder v1.69 MPV17 Louise Daugherty Source NHS GMS was added to MPV17.
Adult onset neurodegenerative disorder v1.69 MMADHC Louise Daugherty Source NHS GMS was added to MMADHC.
Adult onset neurodegenerative disorder v1.69 MCOLN1 Louise Daugherty Source NHS GMS was added to MCOLN1.
Adult onset neurodegenerative disorder v1.69 MAT1A Louise Daugherty Source NHS GMS was added to MAT1A.
Adult onset neurodegenerative disorder v1.69 MARS Louise Daugherty Source NHS GMS was added to MARS.
Adult onset neurodegenerative disorder v1.69 L2HGDH Louise Daugherty Source NHS GMS was added to L2HGDH.
Adult onset neurodegenerative disorder v1.69 KLC4 Louise Daugherty Source NHS GMS was added to KLC4.
Adult onset neurodegenerative disorder v1.69 JPH3 Louise Daugherty Source NHS GMS was added to JPH3.
Adult onset neurodegenerative disorder v1.69 HTT Louise Daugherty Source NHS GMS was added to HTT.
Adult onset neurodegenerative disorder v1.69 HPRT1 Louise Daugherty Source NHS GMS was added to HPRT1.
Adult onset neurodegenerative disorder v1.69 HFE Louise Daugherty Source NHS GMS was added to HFE.
Adult onset neurodegenerative disorder v1.69 GIGYF2 Louise Daugherty Source NHS GMS was added to GIGYF2.
Adult onset neurodegenerative disorder v1.69 GCDH Louise Daugherty Source NHS GMS was added to GCDH.
Adult onset neurodegenerative disorder v1.69 GAMT Louise Daugherty Source NHS GMS was added to GAMT.
Adult onset neurodegenerative disorder v1.69 GAD1 Louise Daugherty Source NHS GMS was added to GAD1.
Adult onset neurodegenerative disorder v1.69 FOXRED1 Louise Daugherty Source NHS GMS was added to FOXRED1.
Adult onset neurodegenerative disorder v1.69 FOXG1 Louise Daugherty Source NHS GMS was added to FOXG1.
Adult onset neurodegenerative disorder v1.69 FASTKD2 Louise Daugherty Source NHS GMS was added to FASTKD2.
Adult onset neurodegenerative disorder v1.69 ERLIN1 Louise Daugherty Source NHS GMS was added to ERLIN1.
Adult onset neurodegenerative disorder v1.69 ERCC6 Louise Daugherty Source NHS GMS was added to ERCC6.
Adult onset neurodegenerative disorder v1.69 ERBB4 Louise Daugherty Source NHS GMS was added to ERBB4.
Adult onset neurodegenerative disorder v1.69 ENTPD1 Louise Daugherty Source NHS GMS was added to ENTPD1.
Adult onset neurodegenerative disorder v1.69 ELOVL5 Louise Daugherty Source NHS GMS was added to ELOVL5.
Adult onset neurodegenerative disorder v1.69 EIF4G1 Louise Daugherty Source NHS GMS was added to EIF4G1.
Adult onset neurodegenerative disorder v1.69 EARS2 Louise Daugherty Source NHS GMS was added to EARS2.
Adult onset neurodegenerative disorder v1.69 DYNC1H1 Louise Daugherty Source NHS GMS was added to DYNC1H1.
Adult onset neurodegenerative disorder v1.69 DSTYK Louise Daugherty Source NHS GMS was added to DSTYK.
Adult onset neurodegenerative disorder v1.69 DRD5 Louise Daugherty Source NHS GMS was added to DRD5.
Adult onset neurodegenerative disorder v1.69 BEAN1 Louise Daugherty Source NHS GMS was added to BEAN1.
Adult onset neurodegenerative disorder v1.69 AR Louise Daugherty Source NHS GMS was added to AR.
Adult onset neurodegenerative disorder v1.67 ZFYVE26 Louise Daugherty Source Yorkshire and North East GLH was added to ZFYVE26.
Adult onset neurodegenerative disorder v1.67 YY1 Louise Daugherty Source Yorkshire and North East GLH was added to YY1.
Adult onset neurodegenerative disorder v1.67 XPR1 Louise Daugherty Source Yorkshire and North East GLH was added to XPR1.
Adult onset neurodegenerative disorder v1.67 WWOX Louise Daugherty Source Yorkshire and North East GLH was added to WWOX.
Adult onset neurodegenerative disorder v1.67 WFS1 Louise Daugherty Source Yorkshire and North East GLH was added to WFS1.
Adult onset neurodegenerative disorder v1.67 WDR81 Louise Daugherty Source Yorkshire and North East GLH was added to WDR81.
Adult onset neurodegenerative disorder v1.67 WDR73 Louise Daugherty Source Yorkshire and North East GLH was added to WDR73.
Adult onset neurodegenerative disorder v1.67 WDR45B Louise Daugherty Source Yorkshire and North East GLH was added to WDR45B.
Adult onset neurodegenerative disorder v1.67 WDR45 Louise Daugherty Source Yorkshire and North East GLH was added to WDR45.
Adult onset neurodegenerative disorder v1.67 WASHC5 Louise Daugherty Source Yorkshire and North East GLH was added to WASHC5.
Adult onset neurodegenerative disorder v1.67 VRK1 Louise Daugherty Source Yorkshire and North East GLH was added to VRK1.
Adult onset neurodegenerative disorder v1.67 VPS53 Louise Daugherty Source Yorkshire and North East GLH was added to VPS53.
Adult onset neurodegenerative disorder v1.67 VPS35 Louise Daugherty Source Yorkshire and North East GLH was added to VPS35.
Adult onset neurodegenerative disorder v1.67 VPS13D Louise Daugherty Source Yorkshire and North East GLH was added to VPS13D.
Adult onset neurodegenerative disorder v1.67 VPS13A Louise Daugherty Source Yorkshire and North East GLH was added to VPS13A.
Adult onset neurodegenerative disorder v1.67 VLDLR Louise Daugherty Source Yorkshire and North East GLH was added to VLDLR.
Adult onset neurodegenerative disorder v1.67 VCP Louise Daugherty Source Yorkshire and North East GLH was added to VCP.
Adult onset neurodegenerative disorder v1.67 VAPB Louise Daugherty Source Yorkshire and North East GLH was added to VAPB.
Adult onset neurodegenerative disorder v1.67 VAMP1 Louise Daugherty Source Yorkshire and North East GLH was added to VAMP1.
Adult onset neurodegenerative disorder v1.67 VAC14 Louise Daugherty Source Yorkshire and North East GLH was added to VAC14.
Adult onset neurodegenerative disorder v1.67 UBQLN2 Louise Daugherty Source Yorkshire and North East GLH was added to UBQLN2.
Adult onset neurodegenerative disorder v1.67 TYROBP Louise Daugherty Source Yorkshire and North East GLH was added to TYROBP.
Adult onset neurodegenerative disorder v1.67 TWNK Louise Daugherty Source Yorkshire and North East GLH was added to TWNK.
Adult onset neurodegenerative disorder v1.67 TUBB4A Louise Daugherty Source Yorkshire and North East GLH was added to TUBB4A.
Adult onset neurodegenerative disorder v1.67 TTPA Louise Daugherty Source Yorkshire and North East GLH was added to TTPA.
Adult onset neurodegenerative disorder v1.67 TTC19 Louise Daugherty Source Yorkshire and North East GLH was added to TTC19.
Adult onset neurodegenerative disorder v1.67 TTBK2 Louise Daugherty Source Yorkshire and North East GLH was added to TTBK2.
Adult onset neurodegenerative disorder v1.67 TSEN54 Louise Daugherty Source Yorkshire and North East GLH was added to TSEN54.
Adult onset neurodegenerative disorder v1.67 TSEN2 Louise Daugherty Source Yorkshire and North East GLH was added to TSEN2.
Adult onset neurodegenerative disorder v1.67 TREM2 Louise Daugherty Source Yorkshire and North East GLH was added to TREM2.
Adult onset neurodegenerative disorder v1.67 TPP1 Louise Daugherty Source Yorkshire and North East GLH was added to TPP1.
Adult onset neurodegenerative disorder v1.67 TOR1A Louise Daugherty Source Yorkshire and North East GLH was added to TOR1A.
Adult onset neurodegenerative disorder v1.67 TMEM240 Louise Daugherty Source Yorkshire and North East GLH was added to TMEM240.
Adult onset neurodegenerative disorder v1.67 THAP1 Louise Daugherty Source Yorkshire and North East GLH was added to THAP1.
Adult onset neurodegenerative disorder v1.67 TH Louise Daugherty Source Yorkshire and North East GLH was added to TH.
Adult onset neurodegenerative disorder v1.67 TGM6 Louise Daugherty Source Yorkshire and North East GLH was added to TGM6.
Adult onset neurodegenerative disorder v1.67 TBP Louise Daugherty Source Yorkshire and North East GLH was added to TBP.
Adult onset neurodegenerative disorder v1.67 TBK1 Louise Daugherty Source Yorkshire and North East GLH was added to TBK1.
Adult onset neurodegenerative disorder v1.67 TARDBP Louise Daugherty Source Yorkshire and North East GLH was added to TARDBP.
Adult onset neurodegenerative disorder v1.67 TAF1 Louise Daugherty Source Yorkshire and North East GLH was added to TAF1.
Adult onset neurodegenerative disorder v1.67 SYNJ1 Louise Daugherty Source Yorkshire and North East GLH was added to SYNJ1.
Adult onset neurodegenerative disorder v1.67 SYNE1 Louise Daugherty Source Yorkshire and North East GLH was added to SYNE1.
Adult onset neurodegenerative disorder v1.67 STUB1 Louise Daugherty Source Yorkshire and North East GLH was added to STUB1.
Adult onset neurodegenerative disorder v1.67 SRD5A3 Louise Daugherty Source Yorkshire and North East GLH was added to SRD5A3.
Adult onset neurodegenerative disorder v1.67 SQSTM1 Louise Daugherty Source Yorkshire and North East GLH was added to SQSTM1.
Adult onset neurodegenerative disorder v1.67 SPTBN2 Louise Daugherty Source Yorkshire and North East GLH was added to SPTBN2.
Adult onset neurodegenerative disorder v1.67 SPR Louise Daugherty Source Yorkshire and North East GLH was added to SPR.
Adult onset neurodegenerative disorder v1.67 SPG7 Louise Daugherty Source Yorkshire and North East GLH was added to SPG7.
Adult onset neurodegenerative disorder v1.67 SPG21 Louise Daugherty Source Yorkshire and North East GLH was added to SPG21.
Adult onset neurodegenerative disorder v1.67 SPG11 Louise Daugherty Source Yorkshire and North East GLH was added to SPG11.
Adult onset neurodegenerative disorder v1.67 SPAST Louise Daugherty Source Yorkshire and North East GLH was added to SPAST.
Adult onset neurodegenerative disorder v1.67 SPART Louise Daugherty Source Yorkshire and North East GLH was added to SPART.
Adult onset neurodegenerative disorder v1.67 SOD1 Louise Daugherty Source Yorkshire and North East GLH was added to SOD1.
Adult onset neurodegenerative disorder v1.67 SNX14 Louise Daugherty Source Yorkshire and North East GLH was added to SNX14.
Adult onset neurodegenerative disorder v1.67 SNCB Louise Daugherty Source Yorkshire and North East GLH was added to SNCB.
Adult onset neurodegenerative disorder v1.67 SNCA Louise Daugherty Source Yorkshire and North East GLH was added to SNCA.
Adult onset neurodegenerative disorder v1.67 SLC9A6 Louise Daugherty Source Yorkshire and North East GLH was added to SLC9A6.
Adult onset neurodegenerative disorder v1.67 SLC6A5 Louise Daugherty Source Yorkshire and North East GLH was added to SLC6A5.
Adult onset neurodegenerative disorder v1.67 SLC6A3 Louise Daugherty Source Yorkshire and North East GLH was added to SLC6A3.
Adult onset neurodegenerative disorder v1.67 SLC52A3 Louise Daugherty Source Yorkshire and North East GLH was added to SLC52A3.
Adult onset neurodegenerative disorder v1.67 SLC52A2 Louise Daugherty Source Yorkshire and North East GLH was added to SLC52A2.
Adult onset neurodegenerative disorder v1.67 SLC39A14 Louise Daugherty Source Yorkshire and North East GLH was added to SLC39A14.
Adult onset neurodegenerative disorder v1.67 SLC30A10 Louise Daugherty Source Yorkshire and North East GLH was added to SLC30A10.
Adult onset neurodegenerative disorder v1.67 SLC2A1 Louise Daugherty Source Yorkshire and North East GLH was added to SLC2A1.
Adult onset neurodegenerative disorder v1.67 SLC25A46 Louise Daugherty Source Yorkshire and North East GLH was added to SLC25A46.
Adult onset neurodegenerative disorder v1.67 SLC20A2 Louise Daugherty Source Yorkshire and North East GLH was added to SLC20A2.
Adult onset neurodegenerative disorder v1.67 SLC1A4 Louise Daugherty Source Yorkshire and North East GLH was added to SLC1A4.
Adult onset neurodegenerative disorder v1.67 SLC1A3 Louise Daugherty Source Yorkshire and North East GLH was added to SLC1A3.
Adult onset neurodegenerative disorder v1.67 SLC16A2 Louise Daugherty Source Yorkshire and North East GLH was added to SLC16A2.
Adult onset neurodegenerative disorder v1.67 SIL1 Louise Daugherty Source Yorkshire and North East GLH was added to SIL1.
Adult onset neurodegenerative disorder v1.67 SIGMAR1 Louise Daugherty Source Yorkshire and North East GLH was added to SIGMAR1.
Adult onset neurodegenerative disorder v1.67 SGCE Louise Daugherty Source Yorkshire and North East GLH was added to SGCE.
Adult onset neurodegenerative disorder v1.67 SETX Louise Daugherty Source Yorkshire and North East GLH was added to SETX.
Adult onset neurodegenerative disorder v1.67 SERAC1 Louise Daugherty Source Yorkshire and North East GLH was added to SERAC1.
Adult onset neurodegenerative disorder v1.67 SEPSECS Louise Daugherty Source Yorkshire and North East GLH was added to SEPSECS.
Adult onset neurodegenerative disorder v1.67 SCN8A Louise Daugherty Source Yorkshire and North East GLH was added to SCN8A.
Adult onset neurodegenerative disorder v1.67 SCN1A Louise Daugherty Source Yorkshire and North East GLH was added to SCN1A.
Adult onset neurodegenerative disorder v1.67 SAR1B Louise Daugherty Source Yorkshire and North East GLH was added to SAR1B.
Adult onset neurodegenerative disorder v1.67 SACS Louise Daugherty Source Yorkshire and North East GLH was added to SACS.
Adult onset neurodegenerative disorder v1.67 RTN2 Louise Daugherty Source Yorkshire and North East GLH was added to RTN2.
Adult onset neurodegenerative disorder v1.67 RNF216 Louise Daugherty Source Yorkshire and North East GLH was added to RNF216.
Adult onset neurodegenerative disorder v1.67 RNF170 Louise Daugherty Source Yorkshire and North East GLH was added to RNF170.
Adult onset neurodegenerative disorder v1.67 REEP2 Louise Daugherty Source Yorkshire and North East GLH was added to REEP2.
Adult onset neurodegenerative disorder v1.67 REEP1 Louise Daugherty Source Yorkshire and North East GLH was added to REEP1.
Adult onset neurodegenerative disorder v1.67 RARS2 Louise Daugherty Source Yorkshire and North East GLH was added to RARS2.
Adult onset neurodegenerative disorder v1.67 RAB39B Louise Daugherty Source Yorkshire and North East GLH was added to RAB39B.
Adult onset neurodegenerative disorder v1.67 PSEN2 Louise Daugherty Source Yorkshire and North East GLH was added to PSEN2.
Adult onset neurodegenerative disorder v1.67 PSEN1 Louise Daugherty Source Yorkshire and North East GLH was added to PSEN1.
Adult onset neurodegenerative disorder v1.67 PRRT2 Louise Daugherty Source Yorkshire and North East GLH was added to PRRT2.
Adult onset neurodegenerative disorder v1.67 PRNP Louise Daugherty Source Yorkshire and North East GLH was added to PRNP.
Adult onset neurodegenerative disorder v1.67 PRKRA Louise Daugherty Source Yorkshire and North East GLH was added to PRKRA.
Adult onset neurodegenerative disorder v1.67 PRKN Louise Daugherty Source Yorkshire and North East GLH was added to PRKN.
Adult onset neurodegenerative disorder v1.67 PRKCG Louise Daugherty Source Yorkshire and North East GLH was added to PRKCG.
Adult onset neurodegenerative disorder v1.67 PPP2R2B Louise Daugherty Source Yorkshire and North East GLH was added to PPP2R2B.
Adult onset neurodegenerative disorder v1.67 POLR3A Louise Daugherty Source Yorkshire and North East GLH was added to POLR3A.
Adult onset neurodegenerative disorder v1.67 POLG Louise Daugherty Source Yorkshire and North East GLH was added to POLG.
Adult onset neurodegenerative disorder v1.67 PNPLA6 Louise Daugherty Source Yorkshire and North East GLH was added to PNPLA6.
Adult onset neurodegenerative disorder v1.67 PNKP Louise Daugherty Source Yorkshire and North East GLH was added to PNKP.
Adult onset neurodegenerative disorder v1.67 PNKD Louise Daugherty Source Yorkshire and North East GLH was added to PNKD.
Adult onset neurodegenerative disorder v1.67 PMPCA Louise Daugherty Source Yorkshire and North East GLH was added to PMPCA.
Adult onset neurodegenerative disorder v1.67 PLP1 Louise Daugherty Source Yorkshire and North East GLH was added to PLP1.
Adult onset neurodegenerative disorder v1.67 PLA2G6 Louise Daugherty Source Yorkshire and North East GLH was added to PLA2G6.
Adult onset neurodegenerative disorder v1.67 PINK1 Louise Daugherty Source Yorkshire and North East GLH was added to PINK1.
Adult onset neurodegenerative disorder v1.67 PFN1 Louise Daugherty Source Yorkshire and North East GLH was added to PFN1.
Adult onset neurodegenerative disorder v1.67 PEX16 Louise Daugherty Source Yorkshire and North East GLH was added to PEX16.
Adult onset neurodegenerative disorder v1.67 PDYN Louise Daugherty Source Yorkshire and North East GLH was added to PDYN.
Adult onset neurodegenerative disorder v1.67 PDGFRB Louise Daugherty Source Yorkshire and North East GLH was added to PDGFRB.
Adult onset neurodegenerative disorder v1.67 PDGFB Louise Daugherty Source Yorkshire and North East GLH was added to PDGFB.
Adult onset neurodegenerative disorder v1.67 PAX6 Louise Daugherty Source Yorkshire and North East GLH was added to PAX6.
Adult onset neurodegenerative disorder v1.67 PARK7 Louise Daugherty Source Yorkshire and North East GLH was added to PARK7.
Adult onset neurodegenerative disorder v1.67 PANK2 Louise Daugherty Source Yorkshire and North East GLH was added to PANK2.
Adult onset neurodegenerative disorder v1.67 OPTN Louise Daugherty Source Yorkshire and North East GLH was added to OPTN.
Adult onset neurodegenerative disorder v1.67 OPHN1 Louise Daugherty Source Yorkshire and North East GLH was added to OPHN1.
Adult onset neurodegenerative disorder v1.67 OPA3 Louise Daugherty Source Yorkshire and North East GLH was added to OPA3.
Adult onset neurodegenerative disorder v1.67 NT5C2 Louise Daugherty Source Yorkshire and North East GLH was added to NT5C2.
Adult onset neurodegenerative disorder v1.67 NR4A2 Louise Daugherty Source Yorkshire and North East GLH was added to NR4A2.
Adult onset neurodegenerative disorder v1.67 NPC2 Louise Daugherty Source Yorkshire and North East GLH was added to NPC2.
Adult onset neurodegenerative disorder v1.67 NPC1 Louise Daugherty Source Yorkshire and North East GLH was added to NPC1.
Adult onset neurodegenerative disorder v1.67 NOTCH3 Louise Daugherty Source Yorkshire and North East GLH was added to NOTCH3.
Adult onset neurodegenerative disorder v1.67 NOP56 Louise Daugherty Source Yorkshire and North East GLH was added to NOP56.
Adult onset neurodegenerative disorder v1.67 NKX6-2 Louise Daugherty Source Yorkshire and North East GLH was added to NKX6-2.
Adult onset neurodegenerative disorder v1.67 NKX2-1 Louise Daugherty Source Yorkshire and North East GLH was added to NKX2-1.
Adult onset neurodegenerative disorder v1.67 NIPA1 Louise Daugherty Source Yorkshire and North East GLH was added to NIPA1.
Adult onset neurodegenerative disorder v1.67 NHLRC1 Louise Daugherty Source Yorkshire and North East GLH was added to NHLRC1.
Adult onset neurodegenerative disorder v1.67 NEFH Louise Daugherty Source Yorkshire and North East GLH was added to NEFH.
Adult onset neurodegenerative disorder v1.67 NDUFA12 Louise Daugherty Source Yorkshire and North East GLH was added to NDUFA12.
Adult onset neurodegenerative disorder v1.67 NAGLU Louise Daugherty Source Yorkshire and North East GLH was added to NAGLU.
Adult onset neurodegenerative disorder v1.67 MVK Louise Daugherty Source Yorkshire and North East GLH was added to MVK.
Adult onset neurodegenerative disorder v1.67 MTTP Louise Daugherty Source Yorkshire and North East GLH was added to MTTP.
Adult onset neurodegenerative disorder v1.67 MTPAP Louise Daugherty Source Yorkshire and North East GLH was added to MTPAP.
Adult onset neurodegenerative disorder v1.67 MT-ND6 Louise Daugherty Source Yorkshire and North East GLH was added to MT-ND6.
Adult onset neurodegenerative disorder v1.67 MT-ATP6 Louise Daugherty Source Yorkshire and North East GLH was added to MT-ATP6.
Adult onset neurodegenerative disorder v1.67 MRE11 Louise Daugherty Source Yorkshire and North East GLH was added to MRE11.
Adult onset neurodegenerative disorder v1.67 MR1 Louise Daugherty Source Yorkshire and North East GLH was added to MR1.
Adult onset neurodegenerative disorder v1.67 MPV17 Louise Daugherty Source Yorkshire and North East GLH was added to MPV17.
Adult onset neurodegenerative disorder v1.67 MMADHC Louise Daugherty Source Yorkshire and North East GLH was added to MMADHC.
Adult onset neurodegenerative disorder v1.67 MMACHC Louise Daugherty Source Yorkshire and North East GLH was added to MMACHC.
Adult onset neurodegenerative disorder v1.67 MECR Louise Daugherty Source Yorkshire and North East GLH was added to MECR.
Adult onset neurodegenerative disorder v1.67 MCOLN1 Louise Daugherty Source Yorkshire and North East GLH was added to MCOLN1.
Adult onset neurodegenerative disorder v1.67 MAT1A Louise Daugherty Source Yorkshire and North East GLH was added to MAT1A.
Adult onset neurodegenerative disorder v1.67 MARS2 Louise Daugherty Source Yorkshire and North East GLH was added to MARS2.
Adult onset neurodegenerative disorder v1.67 MARS Louise Daugherty Source Yorkshire and North East GLH was added to MARS.
Adult onset neurodegenerative disorder v1.67 MAPT Louise Daugherty Source Yorkshire and North East GLH was added to MAPT.
Adult onset neurodegenerative disorder v1.67 MAG Louise Daugherty Source Yorkshire and North East GLH was added to MAG.
Adult onset neurodegenerative disorder v1.67 LYST Louise Daugherty Source Yorkshire and North East GLH was added to LYST.
Adult onset neurodegenerative disorder v1.67 LRRK2 Louise Daugherty Source Yorkshire and North East GLH was added to LRRK2.
Adult onset neurodegenerative disorder v1.67 L2HGDH Louise Daugherty Source Yorkshire and North East GLH was added to L2HGDH.
Adult onset neurodegenerative disorder v1.67 L1CAM Louise Daugherty Source Yorkshire and North East GLH was added to L1CAM.
Adult onset neurodegenerative disorder v1.67 KMT2B Louise Daugherty Source Yorkshire and North East GLH was added to KMT2B.
Adult onset neurodegenerative disorder v1.67 KLC4 Louise Daugherty Source Yorkshire and North East GLH was added to KLC4.
Adult onset neurodegenerative disorder v1.67 KIF5A Louise Daugherty Source Yorkshire and North East GLH was added to KIF5A.
Adult onset neurodegenerative disorder v1.67 KIF1C Louise Daugherty Source Yorkshire and North East GLH was added to KIF1C.
Adult onset neurodegenerative disorder v1.67 KIF1A Louise Daugherty Source Yorkshire and North East GLH was added to KIF1A.
Adult onset neurodegenerative disorder v1.67 KIDINS220 Louise Daugherty Source Yorkshire and North East GLH was added to KIDINS220.
Adult onset neurodegenerative disorder v1.67 KIAA1161 Louise Daugherty Source Yorkshire and North East GLH was added to KIAA1161.
Adult onset neurodegenerative disorder v1.67 KDM5C Louise Daugherty Source Yorkshire and North East GLH was added to KDM5C.
Adult onset neurodegenerative disorder v1.67 KCNQ3 Louise Daugherty Source Yorkshire and North East GLH was added to KCNQ3.
Adult onset neurodegenerative disorder v1.67 KCNQ2 Louise Daugherty Source Yorkshire and North East GLH was added to KCNQ2.
Adult onset neurodegenerative disorder v1.67 KCNK18 Louise Daugherty Source Yorkshire and North East GLH was added to KCNK18.
Adult onset neurodegenerative disorder v1.67 KCNJ10 Louise Daugherty Source Yorkshire and North East GLH was added to KCNJ10.
Adult onset neurodegenerative disorder v1.67 KCND3 Louise Daugherty Source Yorkshire and North East GLH was added to KCND3.
Adult onset neurodegenerative disorder v1.67 KCNC3 Louise Daugherty Source Yorkshire and North East GLH was added to KCNC3.
Adult onset neurodegenerative disorder v1.67 KCNA1 Louise Daugherty Source Yorkshire and North East GLH was added to KCNA1.
Adult onset neurodegenerative disorder v1.67 JPH3 Louise Daugherty Source Yorkshire and North East GLH was added to JPH3.
Adult onset neurodegenerative disorder v1.67 ITPR1 Louise Daugherty Source Yorkshire and North East GLH was added to ITPR1.
Adult onset neurodegenerative disorder v1.67 ITM2B Louise Daugherty Source Yorkshire and North East GLH was added to ITM2B.
Adult onset neurodegenerative disorder v1.67 IPPK Louise Daugherty Source Yorkshire and North East GLH was added to IPPK.
Adult onset neurodegenerative disorder v1.67 IBA57 Louise Daugherty Source Yorkshire and North East GLH was added to IBA57.
Adult onset neurodegenerative disorder v1.67 HTT Louise Daugherty Source Yorkshire and North East GLH was added to HTT.
Adult onset neurodegenerative disorder v1.67 HTRA2 Louise Daugherty Source Yorkshire and North East GLH was added to HTRA2.
Adult onset neurodegenerative disorder v1.67 HTRA1 Louise Daugherty Source Yorkshire and North East GLH was added to HTRA1.
Adult onset neurodegenerative disorder v1.67 HSPD1 Louise Daugherty Source Yorkshire and North East GLH was added to HSPD1.
Adult onset neurodegenerative disorder v1.67 HPRT1 Louise Daugherty Source Yorkshire and North East GLH was added to HPRT1.
Adult onset neurodegenerative disorder v1.67 HPCA Louise Daugherty Source Yorkshire and North East GLH was added to HPCA.
Adult onset neurodegenerative disorder v1.67 HNRNPA1 Louise Daugherty Source Yorkshire and North East GLH was added to HNRNPA1.
Adult onset neurodegenerative disorder v1.67 HFE Louise Daugherty Source Yorkshire and North East GLH was added to HFE.
Adult onset neurodegenerative disorder v1.67 HEXB Louise Daugherty Source Yorkshire and North East GLH was added to HEXB.
Adult onset neurodegenerative disorder v1.67 HEXA Louise Daugherty Source Yorkshire and North East GLH was added to HEXA.
Adult onset neurodegenerative disorder v1.67 HACE1 Louise Daugherty Source Yorkshire and North East GLH was added to HACE1.
Adult onset neurodegenerative disorder v1.67 GRN Louise Daugherty Source Yorkshire and North East GLH was added to GRN.
Adult onset neurodegenerative disorder v1.67 GRM1 Louise Daugherty Source Yorkshire and North East GLH was added to GRM1.
Adult onset neurodegenerative disorder v1.67 GRID2 Louise Daugherty Source Yorkshire and North East GLH was added to GRID2.
Adult onset neurodegenerative disorder v1.67 GPAA1 Louise Daugherty Source Yorkshire and North East GLH was added to GPAA1.
Adult onset neurodegenerative disorder v1.67 GOSR2 Louise Daugherty Source Yorkshire and North East GLH was added to GOSR2.
Adult onset neurodegenerative disorder v1.67 GNAO1 Louise Daugherty Source Yorkshire and North East GLH was added to GNAO1.
Adult onset neurodegenerative disorder v1.67 GNAL Louise Daugherty Source Yorkshire and North East GLH was added to GNAL.
Adult onset neurodegenerative disorder v1.67 GLRB Louise Daugherty Source Yorkshire and North East GLH was added to GLRB.
Adult onset neurodegenerative disorder v1.67 GLRA1 Louise Daugherty Source Yorkshire and North East GLH was added to GLRA1.
Adult onset neurodegenerative disorder v1.67 GJC2 Louise Daugherty Source Yorkshire and North East GLH was added to GJC2.
Adult onset neurodegenerative disorder v1.67 GIGYF2 Louise Daugherty Source Yorkshire and North East GLH was added to GIGYF2.
Adult onset neurodegenerative disorder v1.67 GFAP Louise Daugherty Source Yorkshire and North East GLH was added to GFAP.
Adult onset neurodegenerative disorder v1.67 GCH1 Louise Daugherty Source Yorkshire and North East GLH was added to GCH1.
Adult onset neurodegenerative disorder v1.67 GCDH Louise Daugherty Source Yorkshire and North East GLH was added to GCDH.
Adult onset neurodegenerative disorder v1.67 GBA2 Louise Daugherty Source Yorkshire and North East GLH was added to GBA2.
Adult onset neurodegenerative disorder v1.67 GBA Louise Daugherty Source Yorkshire and North East GLH was added to GBA.
Adult onset neurodegenerative disorder v1.67 GAMT Louise Daugherty Source Yorkshire and North East GLH was added to GAMT.
Adult onset neurodegenerative disorder v1.67 GAD1 Louise Daugherty Source Yorkshire and North East GLH was added to GAD1.
Adult onset neurodegenerative disorder v1.67 FXN Louise Daugherty Source Yorkshire and North East GLH was added to FXN.
Adult onset neurodegenerative disorder v1.67 FUS Louise Daugherty Source Yorkshire and North East GLH was added to FUS.
Adult onset neurodegenerative disorder v1.67 FTL Louise Daugherty Source Yorkshire and North East GLH was added to FTL.
Adult onset neurodegenerative disorder v1.67 FOXRED1 Louise Daugherty Source Yorkshire and North East GLH was added to FOXRED1.
Adult onset neurodegenerative disorder v1.67 FOXG1 Louise Daugherty Source Yorkshire and North East GLH was added to FOXG1.
Adult onset neurodegenerative disorder v1.67 FOLR1 Louise Daugherty Source Yorkshire and North East GLH was added to FOLR1.
Adult onset neurodegenerative disorder v1.67 FMR1 Louise Daugherty Source Yorkshire and North East GLH was added to FMR1.
Adult onset neurodegenerative disorder v1.67 FLVCR1 Louise Daugherty Source Yorkshire and North East GLH was added to FLVCR1.
Adult onset neurodegenerative disorder v1.67 FIG4 Louise Daugherty Source Yorkshire and North East GLH was added to FIG4.
Adult onset neurodegenerative disorder v1.67 FGF14 Louise Daugherty Source Yorkshire and North East GLH was added to FGF14.
Adult onset neurodegenerative disorder v1.67 FBXO7 Louise Daugherty Source Yorkshire and North East GLH was added to FBXO7.
Adult onset neurodegenerative disorder v1.67 FASTKD2 Louise Daugherty Source Yorkshire and North East GLH was added to FASTKD2.
Adult onset neurodegenerative disorder v1.67 FARS2 Louise Daugherty Source Yorkshire and North East GLH was added to FARS2.
Adult onset neurodegenerative disorder v1.67 FA2H Louise Daugherty Source Yorkshire and North East GLH was added to FA2H.
Adult onset neurodegenerative disorder v1.67 EXOSC3 Louise Daugherty Source Yorkshire and North East GLH was added to EXOSC3.
Adult onset neurodegenerative disorder v1.67 ERLIN2 Louise Daugherty Source Yorkshire and North East GLH was added to ERLIN2.
Adult onset neurodegenerative disorder v1.67 ERLIN1 Louise Daugherty Source Yorkshire and North East GLH was added to ERLIN1.
Adult onset neurodegenerative disorder v1.67 ERCC6 Louise Daugherty Source Yorkshire and North East GLH was added to ERCC6.
Adult onset neurodegenerative disorder v1.67 ERBB4 Louise Daugherty Source Yorkshire and North East GLH was added to ERBB4.
Adult onset neurodegenerative disorder v1.67 EPM2A Louise Daugherty Source Yorkshire and North East GLH was added to EPM2A.
Adult onset neurodegenerative disorder v1.67 ENTPD1 Louise Daugherty Source Yorkshire and North East GLH was added to ENTPD1.
Adult onset neurodegenerative disorder v1.67 ELOVL5 Louise Daugherty Source Yorkshire and North East GLH was added to ELOVL5.
Adult onset neurodegenerative disorder v1.67 ELOVL4 Louise Daugherty Source Yorkshire and North East GLH was added to ELOVL4.
Adult onset neurodegenerative disorder v1.67 EIF4G1 Louise Daugherty Source Yorkshire and North East GLH was added to EIF4G1.
Adult onset neurodegenerative disorder v1.67 EIF2B5 Louise Daugherty Source Yorkshire and North East GLH was added to EIF2B5.
Adult onset neurodegenerative disorder v1.67 EIF2B4 Louise Daugherty Source Yorkshire and North East GLH was added to EIF2B4.
Adult onset neurodegenerative disorder v1.67 EIF2B3 Louise Daugherty Source Yorkshire and North East GLH was added to EIF2B3.
Adult onset neurodegenerative disorder v1.67 EIF2B2 Louise Daugherty Source Yorkshire and North East GLH was added to EIF2B2.
Adult onset neurodegenerative disorder v1.67 EIF2B1 Louise Daugherty Source Yorkshire and North East GLH was added to EIF2B1.
Adult onset neurodegenerative disorder v1.67 EARS2 Louise Daugherty Source Yorkshire and North East GLH was added to EARS2.
Adult onset neurodegenerative disorder v1.67 DYNC1H1 Louise Daugherty Source Yorkshire and North East GLH was added to DYNC1H1.
Adult onset neurodegenerative disorder v1.67 DSTYK Louise Daugherty Source Yorkshire and North East GLH was added to DSTYK.
Adult onset neurodegenerative disorder v1.67 DRD5 Louise Daugherty Source Yorkshire and North East GLH was added to DRD5.
Adult onset neurodegenerative disorder v1.67 DRD2 Louise Daugherty Source Yorkshire and North East GLH was added to DRD2.
Adult onset neurodegenerative disorder v1.67 DNMT1 Louise Daugherty Source Yorkshire and North East GLH was added to DNMT1.
Adult onset neurodegenerative disorder v1.67 DNAJC6 Louise Daugherty Source Yorkshire and North East GLH was added to DNAJC6.
Adult onset neurodegenerative disorder v1.67 DNAJC5 Louise Daugherty Source Yorkshire and North East GLH was added to DNAJC5.
Adult onset neurodegenerative disorder v1.67 DNAJC19 Louise Daugherty Source Yorkshire and North East GLH was added to DNAJC19.
Adult onset neurodegenerative disorder v1.67 DMXL2 Louise Daugherty Source Yorkshire and North East GLH was added to DMXL2.
Adult onset neurodegenerative disorder v1.67 DLAT Louise Daugherty Source Yorkshire and North East GLH was added to DLAT.
Adult onset neurodegenerative disorder v1.67 DDHD2 Louise Daugherty Source Yorkshire and North East GLH was added to DDHD2.
Adult onset neurodegenerative disorder v1.67 DDHD1 Louise Daugherty Source Yorkshire and North East GLH was added to DDHD1.
Adult onset neurodegenerative disorder v1.67 DDC Louise Daugherty Source Yorkshire and North East GLH was added to DDC.
Adult onset neurodegenerative disorder v1.67 DCTN1 Louise Daugherty Source Yorkshire and North East GLH was added to DCTN1.
Adult onset neurodegenerative disorder v1.67 DCAF17 Louise Daugherty Source Yorkshire and North East GLH was added to DCAF17.
Adult onset neurodegenerative disorder v1.67 DARS2 Louise Daugherty Source Yorkshire and North East GLH was added to DARS2.
Adult onset neurodegenerative disorder v1.67 DARS Louise Daugherty Source Yorkshire and North East GLH was added to DARS.
Adult onset neurodegenerative disorder v1.67 DAB1 Louise Daugherty Source Yorkshire and North East GLH was added to DAB1.
Adult onset neurodegenerative disorder v1.67 CYP7B1 Louise Daugherty Source Yorkshire and North East GLH was added to CYP7B1.
Adult onset neurodegenerative disorder v1.67 CYP2U1 Louise Daugherty Source Yorkshire and North East GLH was added to CYP2U1.
Adult onset neurodegenerative disorder v1.67 CYP27A1 Louise Daugherty Source Yorkshire and North East GLH was added to CYP27A1.
Adult onset neurodegenerative disorder v1.67 CWF19L1 Louise Daugherty Source Yorkshire and North East GLH was added to CWF19L1.
Adult onset neurodegenerative disorder v1.67 CSTB Louise Daugherty Source Yorkshire and North East GLH was added to CSTB.
Adult onset neurodegenerative disorder v1.67 CSF1R Louise Daugherty Source Yorkshire and North East GLH was added to CSF1R.
Adult onset neurodegenerative disorder v1.67 CP Louise Daugherty Source Yorkshire and North East GLH was added to CP.
Adult onset neurodegenerative disorder v1.67 COX20 Louise Daugherty Source Yorkshire and North East GLH was added to COX20.
Adult onset neurodegenerative disorder v1.67 COQ8A Louise Daugherty Source Yorkshire and North East GLH was added to COQ8A.
Adult onset neurodegenerative disorder v1.67 COG5 Louise Daugherty Source Yorkshire and North East GLH was added to COG5.
Adult onset neurodegenerative disorder v1.67 COASY Louise Daugherty Source Yorkshire and North East GLH was added to COASY.
Adult onset neurodegenerative disorder v1.67 CLP1 Louise Daugherty Source Yorkshire and North East GLH was added to CLP1.
Adult onset neurodegenerative disorder v1.67 CLN6 Louise Daugherty Source Yorkshire and North East GLH was added to CLN6.
Adult onset neurodegenerative disorder v1.67 CLCN2 Louise Daugherty Source Yorkshire and North East GLH was added to CLCN2.
Adult onset neurodegenerative disorder v1.67 CIZ1 Louise Daugherty Source Yorkshire and North East GLH was added to CIZ1.
Adult onset neurodegenerative disorder v1.67 CHMP2B Louise Daugherty Source Yorkshire and North East GLH was added to CHMP2B.
Adult onset neurodegenerative disorder v1.67 CHMP1A Louise Daugherty Source Yorkshire and North East GLH was added to CHMP1A.
Adult onset neurodegenerative disorder v1.67 CHCHD2 Louise Daugherty Source Yorkshire and North East GLH was added to CHCHD2.
Adult onset neurodegenerative disorder v1.67 CHCHD10 Louise Daugherty Source Yorkshire and North East GLH was added to CHCHD10.
Adult onset neurodegenerative disorder v1.67 CDK16 Louise Daugherty Source Yorkshire and North East GLH was added to CDK16.
Adult onset neurodegenerative disorder v1.67 CCT5 Louise Daugherty Source Yorkshire and North East GLH was added to CCT5.
Adult onset neurodegenerative disorder v1.67 CCNF Louise Daugherty Source Yorkshire and North East GLH was added to CCNF.
Adult onset neurodegenerative disorder v1.67 CCDC88C Louise Daugherty Source Yorkshire and North East GLH was added to CCDC88C.
Adult onset neurodegenerative disorder v1.67 CASK Louise Daugherty Source Yorkshire and North East GLH was added to CASK.
Adult onset neurodegenerative disorder v1.67 CAPN1 Louise Daugherty Source Yorkshire and North East GLH was added to CAPN1.
Adult onset neurodegenerative disorder v1.67 CAMTA1 Louise Daugherty Source Yorkshire and North East GLH was added to CAMTA1.
Adult onset neurodegenerative disorder v1.67 CACNB4 Louise Daugherty Source Yorkshire and North East GLH was added to CACNB4.
Adult onset neurodegenerative disorder v1.67 CACNA1G Louise Daugherty Source Yorkshire and North East GLH was added to CACNA1G.
Adult onset neurodegenerative disorder v1.67 CACNA1A Louise Daugherty Source Yorkshire and North East GLH was added to CACNA1A.
Adult onset neurodegenerative disorder v1.67 CA8 Louise Daugherty Source Yorkshire and North East GLH was added to CA8.
Adult onset neurodegenerative disorder v1.67 C9orf72 Louise Daugherty Source Yorkshire and North East GLH was added to C9orf72.
Adult onset neurodegenerative disorder v1.67 C19orf12 Louise Daugherty Source Yorkshire and North East GLH was added to C19orf12.
Adult onset neurodegenerative disorder v1.67 C12orf65 Louise Daugherty Source Yorkshire and North East GLH was added to C12orf65.
Adult onset neurodegenerative disorder v1.67 BSCL2 Louise Daugherty Source Yorkshire and North East GLH was added to BSCL2.
Adult onset neurodegenerative disorder v1.67 BEAN1 Louise Daugherty Source Yorkshire and North East GLH was added to BEAN1.
Adult onset neurodegenerative disorder v1.67 BCAP31 Louise Daugherty Source Yorkshire and North East GLH was added to BCAP31.
Adult onset neurodegenerative disorder v1.67 B4GALNT1 Louise Daugherty Source Yorkshire and North East GLH was added to B4GALNT1.
Adult onset neurodegenerative disorder v1.67 AUH Louise Daugherty Source Yorkshire and North East GLH was added to AUH.
Adult onset neurodegenerative disorder v1.67 ATXN8 Louise Daugherty Source Yorkshire and North East GLH was added to ATXN8.
Adult onset neurodegenerative disorder v1.67 ATXN7 Louise Daugherty Source Yorkshire and North East GLH was added to ATXN7.
Adult onset neurodegenerative disorder v1.67 ATXN3 Louise Daugherty Source Yorkshire and North East GLH was added to ATXN3.
Adult onset neurodegenerative disorder v1.67 ATXN2 Louise Daugherty Source Yorkshire and North East GLH was added to ATXN2.
Adult onset neurodegenerative disorder v1.67 ATXN10 Louise Daugherty Source Yorkshire and North East GLH was added to ATXN10.
Adult onset neurodegenerative disorder v1.67 ATXN1 Louise Daugherty Source Yorkshire and North East GLH was added to ATXN1.
Adult onset neurodegenerative disorder v1.67 ATP8A2 Louise Daugherty Source Yorkshire and North East GLH was added to ATP8A2.
Adult onset neurodegenerative disorder v1.67 ATP7B Louise Daugherty Source Yorkshire and North East GLH was added to ATP7B.
Adult onset neurodegenerative disorder v1.67 ATP6AP2 Louise Daugherty Source Yorkshire and North East GLH was added to ATP6AP2.
Adult onset neurodegenerative disorder v1.67 ATP2B3 Louise Daugherty Source Yorkshire and North East GLH was added to ATP2B3.
Adult onset neurodegenerative disorder v1.67 ATP1A3 Louise Daugherty Source Yorkshire and North East GLH was added to ATP1A3.
Adult onset neurodegenerative disorder v1.67 ATP1A2 Louise Daugherty Source Yorkshire and North East GLH was added to ATP1A2.
Adult onset neurodegenerative disorder v1.67 ATP13A2 Louise Daugherty Source Yorkshire and North East GLH was added to ATP13A2.
Adult onset neurodegenerative disorder v1.67 ATN1 Louise Daugherty Source Yorkshire and North East GLH was added to ATN1.
Adult onset neurodegenerative disorder v1.67 ATM Louise Daugherty Source Yorkshire and North East GLH was added to ATM.
Adult onset neurodegenerative disorder v1.67 ATL1 Louise Daugherty Source Yorkshire and North East GLH was added to ATL1.
Adult onset neurodegenerative disorder v1.67 ATCAY Louise Daugherty Source Yorkshire and North East GLH was added to ATCAY.
Adult onset neurodegenerative disorder v1.67 ARX Louise Daugherty Source Yorkshire and North East GLH was added to ARX.
Adult onset neurodegenerative disorder v1.67 ARSI Louise Daugherty Source Yorkshire and North East GLH was added to ARSI.
Adult onset neurodegenerative disorder v1.67 ARSA Louise Daugherty Source Yorkshire and North East GLH was added to ARSA.
Adult onset neurodegenerative disorder v1.67 ARL6IP1 Louise Daugherty Source Yorkshire and North East GLH was added to ARL6IP1.
Adult onset neurodegenerative disorder v1.67 ARG1 Louise Daugherty Source Yorkshire and North East GLH was added to ARG1.
Adult onset neurodegenerative disorder v1.67 AR Louise Daugherty Source Yorkshire and North East GLH was added to AR.
Adult onset neurodegenerative disorder v1.67 APTX Louise Daugherty Source Yorkshire and North East GLH was added to APTX.
Adult onset neurodegenerative disorder v1.67 APP Louise Daugherty Source Yorkshire and North East GLH was added to APP.
Adult onset neurodegenerative disorder v1.67 AP5Z1 Louise Daugherty Source Yorkshire and North East GLH was added to AP5Z1.
Adult onset neurodegenerative disorder v1.67 AP4S1 Louise Daugherty Source Yorkshire and North East GLH was added to AP4S1.
Adult onset neurodegenerative disorder v1.67 AP4M1 Louise Daugherty Source Yorkshire and North East GLH was added to AP4M1.
Adult onset neurodegenerative disorder v1.67 AP4E1 Louise Daugherty Source Yorkshire and North East GLH was added to AP4E1.
Adult onset neurodegenerative disorder v1.67 AP4B1 Louise Daugherty Source Yorkshire and North East GLH was added to AP4B1.
Adult onset neurodegenerative disorder v1.67 AP1S2 Louise Daugherty Source Yorkshire and North East GLH was added to AP1S2.
Adult onset neurodegenerative disorder v1.67 ANO3 Louise Daugherty Source Yorkshire and North East GLH was added to ANO3.
Adult onset neurodegenerative disorder v1.67 ANO10 Louise Daugherty Source Yorkshire and North East GLH was added to ANO10.
Adult onset neurodegenerative disorder v1.67 ANG Louise Daugherty Source Yorkshire and North East GLH was added to ANG.
Adult onset neurodegenerative disorder v1.67 AMPD2 Louise Daugherty Source Yorkshire and North East GLH was added to AMPD2.
Adult onset neurodegenerative disorder v1.67 ALS2 Louise Daugherty Source Yorkshire and North East GLH was added to ALS2.
Adult onset neurodegenerative disorder v1.67 ALDH18A1 Louise Daugherty Source Yorkshire and North East GLH was added to ALDH18A1.
Adult onset neurodegenerative disorder v1.67 ALAS2 Louise Daugherty Source Yorkshire and North East GLH was added to ALAS2.
Adult onset neurodegenerative disorder v1.67 AIMP1 Louise Daugherty Source Yorkshire and North East GLH was added to AIMP1.
Adult onset neurodegenerative disorder v1.67 AFG3L2 Louise Daugherty Source Yorkshire and North East GLH was added to AFG3L2.
Adult onset neurodegenerative disorder v1.67 ADCY5 Louise Daugherty Source Yorkshire and North East GLH was added to ADCY5.
Adult onset neurodegenerative disorder v1.67 ADAR Louise Daugherty Source Yorkshire and North East GLH was added to ADAR.
Adult onset neurodegenerative disorder v1.67 ACTB Louise Daugherty Source Yorkshire and North East GLH was added to ACTB.
Adult onset neurodegenerative disorder v1.67 ABHD12 Louise Daugherty Source Yorkshire and North East GLH was added to ABHD12.
Adult onset neurodegenerative disorder v1.67 ABCD1 Louise Daugherty Source Yorkshire and North East GLH was added to ABCD1.
Adult onset neurodegenerative disorder v1.67 ABCB7 Louise Daugherty Source Yorkshire and North East GLH was added to ABCB7.
Adult onset neurodegenerative disorder v1.67 AARS Louise Daugherty Source Yorkshire and North East GLH was added to AARS.
Adult onset neurodegenerative disorder v1.67 AAAS Louise Daugherty Source Yorkshire and North East GLH was added to AAAS.
Adult onset neurodegenerative disorder v1.66 VPS13C Louise Daugherty Source NHS GMS was added to VPS13C.
Adult onset neurodegenerative disorder v1.66 DNAJC13 Louise Daugherty Source NHS GMS was added to DNAJC13.
Adult onset neurodegenerative disorder v1.66 COQ2 Louise Daugherty Source NHS GMS was added to COQ2.
Adult onset neurodegenerative disorder v1.66 TUBA4A Louise Daugherty Source NHS GMS was added to TUBA4A.
Adult onset neurodegenerative disorder v1.66 TAF15 Louise Daugherty Source NHS GMS was added to TAF15.
Adult onset neurodegenerative disorder v1.66 PRPH Louise Daugherty Source NHS GMS was added to PRPH.
Adult onset neurodegenerative disorder v1.66 NEK1 Louise Daugherty Source NHS GMS was added to NEK1.
Adult onset neurodegenerative disorder v1.66 MATR3 Louise Daugherty Source NHS GMS was added to MATR3.
Adult onset neurodegenerative disorder v1.66 HNRNPA2B1 Louise Daugherty Source NHS GMS was added to HNRNPA2B1.
Adult onset neurodegenerative disorder v1.66 EWSR1 Louise Daugherty Source NHS GMS was added to EWSR1.
Adult onset neurodegenerative disorder v1.66 DAO Louise Daugherty Source NHS GMS was added to DAO.
Adult onset neurodegenerative disorder v1.66 ARHGEF28 Louise Daugherty Source NHS GMS was added to ARHGEF28.
Adult onset neurodegenerative disorder v1.66 ANXA11 Louise Daugherty Source NHS GMS was added to ANXA11.
Adult onset neurodegenerative disorder v1.66 SS18L1 Louise Daugherty Source NHS GMS was added to SS18L1.
Adult onset neurodegenerative disorder v1.65 VPS13C Louise Daugherty Source Yorkshire and North East GLH was added to VPS13C.
Adult onset neurodegenerative disorder v1.65 DNAJC13 Louise Daugherty Source Yorkshire and North East GLH was added to DNAJC13.
Adult onset neurodegenerative disorder v1.65 COQ2 Louise Daugherty Source Yorkshire and North East GLH was added to COQ2.
Adult onset neurodegenerative disorder v1.65 TUBA4A Louise Daugherty Source Yorkshire and North East GLH was added to TUBA4A.
Adult onset neurodegenerative disorder v1.65 TAF15 Louise Daugherty Source Yorkshire and North East GLH was added to TAF15.
Adult onset neurodegenerative disorder v1.65 PRPH Louise Daugherty Source Yorkshire and North East GLH was added to PRPH.
Adult onset neurodegenerative disorder v1.65 NEK1 Louise Daugherty Source Yorkshire and North East GLH was added to NEK1.
Adult onset neurodegenerative disorder v1.65 MATR3 Louise Daugherty Source Yorkshire and North East GLH was added to MATR3.
Adult onset neurodegenerative disorder v1.65 HNRNPA2B1 Louise Daugherty Source Yorkshire and North East GLH was added to HNRNPA2B1.
Adult onset neurodegenerative disorder v1.65 EWSR1 Louise Daugherty Source Yorkshire and North East GLH was added to EWSR1.
Adult onset neurodegenerative disorder v1.65 DAO Louise Daugherty Source Yorkshire and North East GLH was added to DAO.
Adult onset neurodegenerative disorder v1.65 ARHGEF28 Louise Daugherty Source Yorkshire and North East GLH was added to ARHGEF28.
Adult onset neurodegenerative disorder v1.65 ANXA11 Louise Daugherty Source Yorkshire and North East GLH was added to ANXA11.
Adult onset neurodegenerative disorder v1.65 SS18L1 Louise Daugherty Source Yorkshire and North East GLH was added to SS18L1.
Adult onset neurodegenerative disorder v1.64 VPS13C Louise Daugherty gene: VPS13C was added
gene: VPS13C was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: VPS13C was set to
Adult onset neurodegenerative disorder v1.64 DNAJC13 Louise Daugherty gene: DNAJC13 was added
gene: DNAJC13 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: DNAJC13 was set to
Adult onset neurodegenerative disorder v1.64 COQ2 Louise Daugherty gene: COQ2 was added
gene: COQ2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: COQ2 was set to
Adult onset neurodegenerative disorder v1.64 TUBA4A Louise Daugherty gene: TUBA4A was added
gene: TUBA4A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: TUBA4A was set to
Adult onset neurodegenerative disorder v1.64 TAF15 Louise Daugherty gene: TAF15 was added
gene: TAF15 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TAF15 was set to
Adult onset neurodegenerative disorder v1.64 PRPH Louise Daugherty gene: PRPH was added
gene: PRPH was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: PRPH was set to
Adult onset neurodegenerative disorder v1.64 NEK1 Louise Daugherty gene: NEK1 was added
gene: NEK1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: NEK1 was set to
Adult onset neurodegenerative disorder v1.64 MATR3 Louise Daugherty gene: MATR3 was added
gene: MATR3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: MATR3 was set to
Adult onset neurodegenerative disorder v1.64 HNRNPA2B1 Louise Daugherty gene: HNRNPA2B1 was added
gene: HNRNPA2B1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: HNRNPA2B1 was set to
Adult onset neurodegenerative disorder v1.64 EWSR1 Louise Daugherty gene: EWSR1 was added
gene: EWSR1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: EWSR1 was set to
Adult onset neurodegenerative disorder v1.64 DAO Louise Daugherty gene: DAO was added
gene: DAO was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: DAO was set to
Adult onset neurodegenerative disorder v1.64 ARHGEF28 Louise Daugherty gene: ARHGEF28 was added
gene: ARHGEF28 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: ARHGEF28 was set to
Adult onset neurodegenerative disorder v1.64 ANXA11 Louise Daugherty gene: ANXA11 was added
gene: ANXA11 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ANXA11 was set to
Adult onset neurodegenerative disorder v1.64 SS18L1 Louise Daugherty gene: SS18L1 was added
gene: SS18L1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SS18L1 was set to
Adult onset neurodegenerative disorder v1.63 CTSF Louise Daugherty Publications for gene: CTSF were set to 23297359: 25274848
Adult onset neurodegenerative disorder v1.62 CTSF Louise Daugherty Classified gene: CTSF as Green List (high evidence)
Adult onset neurodegenerative disorder v1.62 CTSF Louise Daugherty Added comment: Comment on list classification: New gene added from curation of Undiagnosed metabolic disorders panel and recommended by Genomics England clinical team to add to the Neurodegenerative disorders - adult onset panel. This is reported with onset in adulthood (youngest 20 yrs, oldest 35 yrs) with neurological features and cognitive decline.
Adult onset neurodegenerative disorder v1.62 CTSF Louise Daugherty Gene: ctsf has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v1.61 CTSF Sarah Leigh changed review comment from: Associated with phenotype in OMIM (last updated 02/06/2015) or in Gen2Phen. This gene was reported in the GMS Neuronal ceroid lipofuscinosis panel as a green gene. At least six variants have been reported in patients with neurological features and cognitive decline, together with supportive functional studies.
Sources: Literature; to: Associated with phenotype in OMIM but not in Gen2Phen. This gene was reported in the GMS Neuronal ceroid lipofuscinosis panel as a green gene. At least six variants have been reported in patients with neurological features and cognitive decline, together with supportive functional studies.
Sources: Literature
Adult onset neurodegenerative disorder v1.61 CTSF Sarah Leigh Phenotypes for gene: CTSF were changed from Type B Kufs disease to Ceroid lipofuscinosis, neuronal, 13, Kufs type 615362
Adult onset neurodegenerative disorder v1.60 CTSF Sarah Leigh changed review comment from: Not associated with phenotype in OMIM (last updated 02/06/2015) or in Gen2Phen. This gene was reported in the GMS Neuronal ceroid lipofuscinosis panel as a green gene. At least six variants have been reported in patients with neurological features and cognitive decline, together with supportive functional studies.
Sources: Literature; to: Associated with phenotype in OMIM (last updated 02/06/2015) or in Gen2Phen. This gene was reported in the GMS Neuronal ceroid lipofuscinosis panel as a green gene. At least six variants have been reported in patients with neurological features and cognitive decline, together with supportive functional studies.
Sources: Literature
Adult onset neurodegenerative disorder v1.60 CTSF Sarah Leigh changed review comment from: Not associated with phenotype in OMIM (last updated 02/06/2015) or in Gen2Phen. This gene was reported in the GMS Neuronal ceroid lipofuscinosis panel as a green gene. At least six variants have been reported in patients with neurological features and cognitive decline, toghether with supportive functional studies.
Sources: Literature; to: Not associated with phenotype in OMIM (last updated 02/06/2015) or in Gen2Phen. This gene was reported in the GMS Neuronal ceroid lipofuscinosis panel as a green gene. At least six variants have been reported in patients with neurological features and cognitive decline, together with supportive functional studies.
Sources: Literature
Adult onset neurodegenerative disorder v1.60 CTSF Sarah Leigh gene: CTSF was added
gene: CTSF was added to Neurodegenerative disorders - adult onset. Sources: Literature
Mode of inheritance for gene: CTSF was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CTSF were set to 23297359: 25274848
Phenotypes for gene: CTSF were set to Type B Kufs disease
Review for gene: CTSF was set to GREEN
Added comment: Not associated with phenotype in OMIM (last updated 02/06/2015) or in Gen2Phen. This gene was reported in the GMS Neuronal ceroid lipofuscinosis panel as a green gene. At least six variants have been reported in patients with neurological features and cognitive decline, toghether with supportive functional studies.
Sources: Literature
Adult onset neurodegenerative disorder v1.59 ISCA-37404-Loss Louise Daugherty changed review comment from: Red rating for CNV region submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.; to: Red rating for CNV region submitted on behalf of James Polke, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.59 C9orf72_GGGGCC Louise Daugherty changed review comment from: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.; to: Green rating for STR submitted on behalf of James Polke, also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.59 C9orf72_GGGGCC Louise Daugherty commented on STR: C9orf72_GGGGCC: Green rating inferred from review comment on the gene by Anthony Dallosso (Bristol Genetics Laboratory) on behalf of South West GLH, needs to be confirmed during the Neurology test Group call July 2019.
Adult onset neurodegenerative disorder v1.59 ATXN7_CAG Louise Daugherty commented on STR: ATXN7_CAG: Green rating inferred from review comment of the gene by Anthony Dallosso (Bristol Genetics Laboratory) on behalf of South West GLH, needs to be confirmed during the Neurology test Group call July 2019.
Adult onset neurodegenerative disorder v1.59 ATXN3_CAG Louise Daugherty commented on STR: ATXN3_CAG: Green rating inferred from review comment of the gene by Anthony Dallosso (Bristol Genetics Laboratory) on behalf of South West GLH, needs to be confirmed during the Neurology test Group call July 2019.
Adult onset neurodegenerative disorder v1.59 ATXN3_CAG Louise Daugherty changed review comment from: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.; to: Green rating for STR submitted on behalf of James Polke, also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.59 ATXN2_CAG Louise Daugherty changed review comment from: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.; to: Green rating for STR submitted on behalf of James Polke, also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.59 ATXN2_CAG Louise Daugherty commented on STR: ATXN2_CAG: Green rating inferred from review comment of the gene by Anthony Dallosso (Bristol Genetics Laboratory) on behalf of South West GLH, needs to be confirmed during the Neurology test Group call July 2019.
Adult onset neurodegenerative disorder v1.59 ATXN1_CAG Louise Daugherty commented on STR: ATXN1_CAG: Green rating inferred from review comment of the gene by Anthony Dallosso (Bristol Genetics Laboratory) on behalf of South West GLH, needs to be confirmed during the Neurology test Group call July 2019.
Adult onset neurodegenerative disorder v1.59 ATXN1_CAG Louise Daugherty changed review comment from: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group. ; to: Green rating for STR submitted on behalf of James Polke, also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.59 ATXN10_ATTCT Louise Daugherty commented on STR: ATXN10_ATTCT: Green rating inferred from review comment of the gene by Anthony Dallosso (Bristol Genetics Laboratory) on behalf of South West GLH, needs to be confirmed during the Neurology test Group call July 2019.
Adult onset neurodegenerative disorder v1.59 ATXN10_ATTCT Louise Daugherty changed review comment from: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.; to: Green rating for STR submitted on behalf of James Polke on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.59 ATN1_CAG Louise Daugherty changed review comment from: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group. ; to: Green rating for STR submitted on behalf of James Polke, also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.59 ATN1_CAG Louise Daugherty commented on STR: ATN1_CAG: Green rating inferred from review comment on the gene by Anthony Dallosso (Bristol Genetics Laboratory) on behalf of South West GLH, needs to be confirmed during the Neurology test Group call July 2019.
Adult onset neurodegenerative disorder v1.59 PPP2R2B_CAG Louise Daugherty Source NHS GMS was added to STR: PPP2R2B_CAG.
Adult onset neurodegenerative disorder v1.59 NOP56_GGCCTG Louise Daugherty Source NHS GMS was added to STR: NOP56_GGCCTG.
Adult onset neurodegenerative disorder v1.59 JPH3_CTG Louise Daugherty Source NHS GMS was added to STR: JPH3_CTG.
Adult onset neurodegenerative disorder v1.59 HTT_CAG Louise Daugherty Source NHS GMS was added to STR: HTT_CAG.
Adult onset neurodegenerative disorder v1.59 C9orf72_GGGGCC Louise Daugherty Source NHS GMS was added to STR: C9orf72_GGGGCC.
Adult onset neurodegenerative disorder v1.59 ATXN7_CAG Louise Daugherty Source NHS GMS was added to STR: ATXN7_CAG.
Adult onset neurodegenerative disorder v1.59 ATXN3_CAG Louise Daugherty Source NHS GMS was added to STR: ATXN3_CAG.
Adult onset neurodegenerative disorder v1.59 ATXN2_CAG Louise Daugherty Source NHS GMS was added to STR: ATXN2_CAG.
Adult onset neurodegenerative disorder v1.59 ATXN1_CAG Louise Daugherty Source NHS GMS was added to STR: ATXN1_CAG.
Adult onset neurodegenerative disorder v1.59 ATXN10_ATTCT Louise Daugherty Source NHS GMS was added to STR: ATXN10_ATTCT.
Adult onset neurodegenerative disorder v1.59 ATN1_CAG Louise Daugherty Source NHS GMS was added to STR: ATN1_CAG.
Adult onset neurodegenerative disorder v1.59 AR_CAG Louise Daugherty Source NHS GMS was added to STR: AR_CAG.
Adult onset neurodegenerative disorder v1.58 C9orf72_GGGGCC Louise Daugherty Source South West GLH was added to STR: C9orf72_GGGGCC.
Adult onset neurodegenerative disorder v1.58 ATXN7_CAG Louise Daugherty Source South West GLH was added to STR: ATXN7_CAG.
Adult onset neurodegenerative disorder v1.58 ATXN3_CAG Louise Daugherty Source South West GLH was added to STR: ATXN3_CAG.
Adult onset neurodegenerative disorder v1.58 ATXN2_CAG Louise Daugherty Source South West GLH was added to STR: ATXN2_CAG.
Adult onset neurodegenerative disorder v1.58 ATXN1_CAG Louise Daugherty Source South West GLH was added to STR: ATXN1_CAG.
Adult onset neurodegenerative disorder v1.58 ATXN10_ATTCT Louise Daugherty Source South West GLH was added to STR: ATXN10_ATTCT.
Adult onset neurodegenerative disorder v1.58 ATN1_CAG Louise Daugherty Source South West GLH was added to STR: ATN1_CAG.
Adult onset neurodegenerative disorder v1.57 PPP2R2B_CAG Louise Daugherty Source London North GLH was added to STR: PPP2R2B_CAG.
Adult onset neurodegenerative disorder v1.57 NOP56_GGCCTG Louise Daugherty Source London North GLH was added to STR: NOP56_GGCCTG.
Adult onset neurodegenerative disorder v1.57 JPH3_CTG Louise Daugherty Source London North GLH was added to STR: JPH3_CTG.
Adult onset neurodegenerative disorder v1.57 HTT_CAG Louise Daugherty Source London North GLH was added to STR: HTT_CAG.
Adult onset neurodegenerative disorder v1.57 C9orf72_GGGGCC Louise Daugherty Source London North GLH was added to STR: C9orf72_GGGGCC.
Adult onset neurodegenerative disorder v1.57 ATXN7_CAG Louise Daugherty Source London North GLH was added to STR: ATXN7_CAG.
Adult onset neurodegenerative disorder v1.57 ATXN3_CAG Louise Daugherty Source London North GLH was added to STR: ATXN3_CAG.
Adult onset neurodegenerative disorder v1.57 ATXN2_CAG Louise Daugherty Source London North GLH was added to STR: ATXN2_CAG.
Adult onset neurodegenerative disorder v1.57 ATXN1_CAG Louise Daugherty Source London North GLH was added to STR: ATXN1_CAG.
Adult onset neurodegenerative disorder v1.57 ATXN10_ATTCT Louise Daugherty Source London North GLH was added to STR: ATXN10_ATTCT.
Adult onset neurodegenerative disorder v1.57 ATN1_CAG Louise Daugherty Source London North GLH was added to STR: ATN1_CAG.
Publications for STR: ATN1_CAG were changed from 20301664; 8136840; 20301664; 8136840; 8136826; 7614090 to 20301664; 8136826; 8136840; 7614090
Adult onset neurodegenerative disorder v1.57 AR_CAG Louise Daugherty Source London North GLH was added to STR: AR_CAG.
Adult onset neurodegenerative disorder v1.56 DAB1 Louise Daugherty Publications for gene: DAB1 were set to 28686858
Adult onset neurodegenerative disorder v1.55 C9orf72 Louise Daugherty Publications for gene: C9orf72 were set to 27059391; 25638642; PMID: 21944778; 23597494; 21944779; http://www.ncbi.nlm.nih.gov/pubmed/25326098; 25326098
Adult onset neurodegenerative disorder v1.54 ATP2B3 Louise Daugherty Publications for gene: ATP2B3 were set to
Adult onset neurodegenerative disorder v1.53 ARX Louise Daugherty Publications for gene: ARX were set to
Adult onset neurodegenerative disorder v1.52 ATP8A2 Louise Daugherty Publications for gene: ATP8A2 were set to PMID: 22892528
Adult onset neurodegenerative disorder v1.51 CLP1 Louise Daugherty Phenotypes for gene: CLP1 were changed from Pontocerebellar hypoplasia 10 (#615803) to Pontocerebellar hypoplasia 10, 615803
Adult onset neurodegenerative disorder v1.50 CLP1 Louise Daugherty Publications for gene: CLP1 were set to
Adult onset neurodegenerative disorder v1.49 ATXN7 Louise Daugherty changed review comment from: This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group as it is a RED gene on the Neurodegenerative disorders - adult onset panel. The GREEN review from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) is likely to relate to the STR ATXN7_CAG and not the gene entity, as there are no SNVsfor this gene being associated to the disorder, this gene is rated RED.; to: This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group as it is a RED gene on the Hereditary ataxia panel. The GREEN review from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) is likely to relate to the STR ATXN7_CAG and not the gene entity, but this needs to be checked during the Neurology test Group call July 2019
Adult onset neurodegenerative disorder v1.49 ATXN7 Louise Daugherty commented on gene: ATXN7: This gene was uploaded from the curation template sent out to the GLHs for GMS Neurology specialist test group as it is a RED gene on the Neurodegenerative disorders - adult onset panel. The GREEN review from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) is likely to relate to the STR ATXN7_CAG and not the gene entity, as there are no SNVsfor this gene being associated to the disorder, this gene is rated RED.
Adult onset neurodegenerative disorder v1.48 XPR1 Louise Daugherty Mode of inheritance for gene: XPR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.47 SQSTM1 Louise Daugherty Mode of inheritance for gene: SQSTM1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.46 PDGFB Louise Daugherty Mode of inheritance for gene: PDGFB was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.45 KIAA1161 Louise Daugherty commented on gene: KIAA1161: added new-gene-name tag, new approved HGNC gene symbol for KIAA1161 is MYORG
Adult onset neurodegenerative disorder v1.45 KIAA1161 Louise Daugherty Tag new-gene-name tag was added to gene: KIAA1161.
Adult onset neurodegenerative disorder v1.45 CDK16 Louise Daugherty Classified gene: CDK16 as Red List (low evidence)
Adult onset neurodegenerative disorder v1.45 CDK16 Louise Daugherty Gene: cdk16 has been classified as Red List (Low Evidence).
Adult onset neurodegenerative disorder v1.44 CIZ1 Louise Daugherty Classified gene: CIZ1 as Red List (low evidence)
Adult onset neurodegenerative disorder v1.44 CIZ1 Louise Daugherty Gene: ciz1 has been classified as Red List (Low Evidence).
Adult onset neurodegenerative disorder v1.43 DARS Louise Daugherty Classified gene: DARS as Green List (high evidence)
Adult onset neurodegenerative disorder v1.43 DARS Louise Daugherty Gene: dars has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v1.42 KCNK18 Louise Daugherty Classified gene: KCNK18 as Red List (low evidence)
Adult onset neurodegenerative disorder v1.42 KCNK18 Louise Daugherty Gene: kcnk18 has been classified as Red List (Low Evidence).
Adult onset neurodegenerative disorder v1.41 MVK Louise Daugherty Classified gene: MVK as Red List (low evidence)
Adult onset neurodegenerative disorder v1.41 MVK Louise Daugherty Gene: mvk has been classified as Red List (Low Evidence).
Adult onset neurodegenerative disorder v1.40 TAF1 Louise Daugherty Classified gene: TAF1 as Green List (high evidence)
Adult onset neurodegenerative disorder v1.40 TAF1 Louise Daugherty Gene: taf1 has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v1.39 GNAL Louise Daugherty Classified gene: GNAL as Green List (high evidence)
Adult onset neurodegenerative disorder v1.39 GNAL Louise Daugherty Gene: gnal has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v1.38 TREM2 Louise Daugherty Classified gene: TREM2 as Green List (high evidence)
Adult onset neurodegenerative disorder v1.38 TREM2 Louise Daugherty Gene: trem2 has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v1.37 SQSTM1 Louise Daugherty Classified gene: SQSTM1 as Green List (high evidence)
Adult onset neurodegenerative disorder v1.37 SQSTM1 Louise Daugherty Gene: sqstm1 has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v1.36 SLC20A2 Louise Daugherty Classified gene: SLC20A2 as Green List (high evidence)
Adult onset neurodegenerative disorder v1.36 SLC20A2 Louise Daugherty Gene: slc20a2 has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v1.35 PDGFRB Louise Daugherty Classified gene: PDGFRB as Green List (high evidence)
Adult onset neurodegenerative disorder v1.35 PDGFRB Louise Daugherty Gene: pdgfrb has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v1.34 PDGFB Louise Daugherty Classified gene: PDGFB as Green List (high evidence)
Adult onset neurodegenerative disorder v1.34 PDGFB Louise Daugherty Gene: pdgfb has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v1.33 KIAA1161 Louise Daugherty Classified gene: KIAA1161 as Green List (high evidence)
Adult onset neurodegenerative disorder v1.33 KIAA1161 Louise Daugherty Gene: kiaa1161 has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v1.32 HTRA1 Louise Daugherty Classified gene: HTRA1 as Green List (high evidence)
Adult onset neurodegenerative disorder v1.32 HTRA1 Louise Daugherty Gene: htra1 has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v1.31 DLAT Louise Daugherty Mode of inheritance for gene: DLAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.30 DLAT Louise Daugherty Classified gene: DLAT as Green List (high evidence)
Adult onset neurodegenerative disorder v1.30 DLAT Louise Daugherty Gene: dlat has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v1.29 DDC Louise Daugherty Mode of inheritance for gene: DDC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.28 DDC Louise Daugherty Classified gene: DDC as Green List (high evidence)
Adult onset neurodegenerative disorder v1.28 DDC Louise Daugherty Gene: ddc has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v1.27 CHCHD10 Louise Daugherty Classified gene: CHCHD10 as Green List (high evidence)
Adult onset neurodegenerative disorder v1.27 CHCHD10 Louise Daugherty Gene: chchd10 has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v1.26 CHCHD10 Louise Daugherty Publications for gene: CHCHD10 were set to 30014597; 25113787; 24934289
Adult onset neurodegenerative disorder v1.25 CHCHD10 Louise Daugherty Publications for gene: CHCHD10 were set to 30014597
Adult onset neurodegenerative disorder v1.24 CHCHD10 Louise Daugherty Mode of inheritance for gene: CHCHD10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.23 CHCHD10 Louise Daugherty Publications for gene: CHCHD10 were set to
Adult onset neurodegenerative disorder v1.22 CCNF Louise Daugherty Publications for gene: CCNF were set to
Adult onset neurodegenerative disorder v1.21 CCNF Louise Daugherty Classified gene: CCNF as Green List (high evidence)
Adult onset neurodegenerative disorder v1.21 CCNF Louise Daugherty Gene: ccnf has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v1.20 BCAP31 Louise Daugherty Classified gene: BCAP31 as Green List (high evidence)
Adult onset neurodegenerative disorder v1.20 BCAP31 Louise Daugherty Gene: bcap31 has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v1.19 AUH Louise Daugherty Mode of inheritance for gene: AUH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.18 AUH Louise Daugherty Classified gene: AUH as Green List (high evidence)
Adult onset neurodegenerative disorder v1.18 AUH Louise Daugherty Gene: auh has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v1.17 ATXN7 Louise Daugherty Classified gene: ATXN7 as Red List (low evidence)
Adult onset neurodegenerative disorder v1.17 ATXN7 Louise Daugherty Gene: atxn7 has been classified as Red List (Low Evidence).
Adult onset neurodegenerative disorder v1.16 ATXN7 Louise Daugherty Classified gene: ATXN7 as Amber List (moderate evidence)
Adult onset neurodegenerative disorder v1.16 ATXN7 Louise Daugherty Gene: atxn7 has been classified as Amber List (Moderate Evidence).
Adult onset neurodegenerative disorder v1.15 AP5Z1 Louise Daugherty Classified gene: AP5Z1 as Green List (high evidence)
Adult onset neurodegenerative disorder v1.15 AP5Z1 Louise Daugherty Gene: ap5z1 has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v1.14 XPR1 Louise Daugherty Classified gene: XPR1 as Green List (high evidence)
Adult onset neurodegenerative disorder v1.14 XPR1 Louise Daugherty Gene: xpr1 has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v1.13 PPP2R2B_CAG Louise Daugherty edited their review of STR: PPP2R2B_CAG: Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.; Set current diagnostic: yes
Adult onset neurodegenerative disorder v1.13 NOP56_GGCCTG Louise Daugherty commented on STR: NOP56_GGCCTG: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.13 JPH3_CTG Louise Daugherty commented on STR: JPH3_CTG: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.13 HTT_CAG Louise Daugherty edited their review of STR: HTT_CAG: Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.; Set current diagnostic: yes
Adult onset neurodegenerative disorder v1.13 C9orf72_GGGGCC Louise Daugherty edited their review of STR: C9orf72_GGGGCC: Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.; Set current diagnostic: yes
Adult onset neurodegenerative disorder v1.13 ATXN3_CAG Louise Daugherty edited their review of STR: ATXN3_CAG: Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.; Set current diagnostic: yes
Adult onset neurodegenerative disorder v1.13 ATXN2_CAG Louise Daugherty edited their review of STR: ATXN2_CAG: Added comment: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), also indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.; Set current diagnostic: yes
Adult onset neurodegenerative disorder v1.13 ATXN10_ATTCT Louise Daugherty commented on STR: ATXN10_ATTCT: Green rating for STR submitted on behalf of James Polke (North Bristol NHS Trust), on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.13 ATXN1_CAG Louise Daugherty commented on STR: ATXN1_CAG: Green rating for STR submitted by James Polke (North Bristol NHS Trust) and indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.13 ATN1_CAG Louise Daugherty edited their review of STR: ATN1_CAG: Added comment: Green rating for STR submitted by James Polke (North Bristol NHS Trust) and indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.; Set current diagnostic: yes
Adult onset neurodegenerative disorder v1.13 AR_CAG Louise Daugherty edited their review of STR: AR_CAG: Added comment: Green rating for STR submitted by James Polke (North Bristol NHS Trust) and indicated that variants are reported as part of the current diagnostic practice, on behalf of London North GLH for GMS Neurology specialist test group.; Set current diagnostic: yes
Adult onset neurodegenerative disorder v1.13 ISCA-37478-Loss Louise Daugherty Source NHS GMS was added to Region: ISCA-37478-Loss.
Adult onset neurodegenerative disorder v1.13 ISCA-37478-Gain Louise Daugherty Source NHS GMS was added to Region: ISCA-37478-Gain.
Adult onset neurodegenerative disorder v1.13 ISCA-37468-Loss Louise Daugherty Source NHS GMS was added to Region: ISCA-37468-Loss.
Adult onset neurodegenerative disorder v1.13 ISCA-37404-Loss Louise Daugherty Source NHS GMS was added to Region: ISCA-37404-Loss.
Adult onset neurodegenerative disorder v1.12 ISCA-37478-Loss Louise Daugherty Source London North GLH was added to Region: ISCA-37478-Loss.
Added phenotypes 105830; Angelman syndrome; Developmental delay, muscle weakness; Mental retardation; 176270; microcephaly; Prader-Willi syndrome for Region: ISCA-37478-Loss
Adult onset neurodegenerative disorder v1.12 ISCA-37478-Gain Louise Daugherty Source London North GLH was added to Region: ISCA-37478-Gain.
Publications for Region: ISCA-37478-Gain were changed from 16840569; 9106540; 18374305 to 18374305; 9106540; 16840569
Adult onset neurodegenerative disorder v1.12 ISCA-37468-Loss Louise Daugherty Source London North GLH was added to Region: ISCA-37468-Loss.
Added phenotypes hypotonia; episodes of sudden loss of muscle tone; short stature; severe intellectual disability; autistic features; eleveated serotonin levels; exiting behavior; lip-smacking; stereotypical hand movements for Region: ISCA-37468-Loss
Publications for Region: ISCA-37468-Loss were changed from 23414621; 22365943; 20485326 to 22365943; 20485326; 23414621
Adult onset neurodegenerative disorder v1.12 ISCA-37404-Loss Louise Daugherty Source London North GLH was added to Region: ISCA-37404-Loss.
Added phenotypes 105831; Angelman syndrome; Developmental delay, muscle weakness; Mental retardation; 176270; microcephaly; Prader-Willi syndrome for Region: ISCA-37404-Loss
Adult onset neurodegenerative disorder v1.11 ISCA-37478-Loss Louise Daugherty reviewed Region: ISCA-37478-Loss: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v1.11 ISCA-37478-Gain Louise Daugherty edited their review of Region: ISCA-37478-Gain: Changed rating: RED
Adult onset neurodegenerative disorder v1.11 ISCA-37478-Gain Louise Daugherty commented on Region: ISCA-37478-Gain
Adult onset neurodegenerative disorder v1.11 ISCA-37468-Loss Louise Daugherty reviewed Region: ISCA-37468-Loss: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v1.11 ISCA-37404-Loss Louise Daugherty reviewed Region: ISCA-37404-Loss: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Adult onset neurodegenerative disorder v1.11 ZFYVE26 Louise Daugherty reviewed gene: ZFYVE26: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 YY1 Louise Daugherty reviewed gene: YY1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 WWOX Louise Daugherty reviewed gene: WWOX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 WFS1 Louise Daugherty reviewed gene: WFS1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 WDR81 Louise Daugherty reviewed gene: WDR81: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 WDR73 Louise Daugherty reviewed gene: WDR73: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 WDR45B Louise Daugherty reviewed gene: WDR45B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 WASHC5 Louise Daugherty reviewed gene: WASHC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 VRK1 Louise Daugherty reviewed gene: VRK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 VPS13D Louise Daugherty reviewed gene: VPS13D: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 VLDLR Louise Daugherty reviewed gene: VLDLR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 VAMP1 Louise Daugherty commented on gene: VAMP1: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.11 VAC14 Louise Daugherty reviewed gene: VAC14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TWNK Louise Daugherty reviewed gene: TWNK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TTPA Louise Daugherty reviewed gene: TTPA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TTBK2 Louise Daugherty reviewed gene: TTBK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TSEN54 Louise Daugherty reviewed gene: TSEN54: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TSEN2 Louise Daugherty reviewed gene: TSEN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TPP1 Louise Daugherty reviewed gene: TPP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TIA1 Louise Daugherty reviewed gene: TIA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TOR1A Louise Daugherty reviewed gene: TOR1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 THAP1 Louise Daugherty reviewed gene: THAP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TH Louise Daugherty reviewed gene: TH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TGM6 Louise Daugherty reviewed gene: TGM6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SYNE1 Louise Daugherty reviewed gene: SYNE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 STUB1 Louise Daugherty reviewed gene: STUB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SRD5A3 Louise Daugherty reviewed gene: SRD5A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SPTBN2 Louise Daugherty reviewed gene: SPTBN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SPR Louise Daugherty reviewed gene: SPR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SPG7 Louise Daugherty reviewed gene: SPG7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SPART Louise Daugherty reviewed gene: SPART: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SNX14 Louise Daugherty reviewed gene: SNX14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC9A6 Louise Daugherty reviewed gene: SLC9A6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC6A5 Louise Daugherty reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC52A3 Louise Daugherty reviewed gene: SLC52A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC52A2 Louise Daugherty reviewed gene: SLC52A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC39A14 Louise Daugherty reviewed gene: SLC39A14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC2A1 Louise Daugherty reviewed gene: SLC2A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC25A46 Louise Daugherty reviewed gene: SLC25A46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC1A4 Louise Daugherty reviewed gene: SLC1A4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC1A3 Louise Daugherty reviewed gene: SLC1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC16A2 Louise Daugherty reviewed gene: SLC16A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SIL1 Louise Daugherty reviewed gene: SIL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SERAC1 Louise Daugherty reviewed gene: SERAC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SEPSECS Louise Daugherty reviewed gene: SEPSECS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SCN8A Louise Daugherty reviewed gene: SCN8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SCN1A Louise Daugherty reviewed gene: SCN1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SAR1B Louise Daugherty reviewed gene: SAR1B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SACS Louise Daugherty reviewed gene: SACS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 RTN2 Louise Daugherty reviewed gene: RTN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 RNF170 Louise Daugherty reviewed gene: RNF170: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 REEP2 Louise Daugherty commented on gene: REEP2: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.11 REEP1 Louise Daugherty reviewed gene: REEP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 RARS2 Louise Daugherty reviewed gene: RARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 RAB39B Louise Daugherty reviewed gene: RAB39B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PRRT2 Louise Daugherty reviewed gene: PRRT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PRKCG Louise Daugherty reviewed gene: PRKCG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 POLR3A Louise Daugherty reviewed gene: POLR3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 POLG Louise Daugherty reviewed gene: POLG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PNPLA6 Louise Daugherty reviewed gene: PNPLA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PNKP Louise Daugherty reviewed gene: PNKP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PNKD Louise Daugherty reviewed gene: PNKD: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PMPCA Louise Daugherty reviewed gene: PMPCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PLP1 Louise Daugherty reviewed gene: PLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PEX16 Louise Daugherty reviewed gene: PEX16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PDYN Louise Daugherty reviewed gene: PDYN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PAX6 Louise Daugherty reviewed gene: PAX6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 OPHN1 Louise Daugherty reviewed gene: OPHN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 OPA3 Louise Daugherty reviewed gene: OPA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 NKX6-2 Louise Daugherty reviewed gene: NKX6-2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 NIPA1 Louise Daugherty reviewed gene: NIPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 NEFH Louise Daugherty commented on gene: NEFH: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.11 MVK Louise Daugherty commented on gene: MVK: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.11 MTTP Louise Daugherty reviewed gene: MTTP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 MT-ATP6 Louise Daugherty reviewed gene: MT-ATP6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 MRE11 Louise Daugherty reviewed gene: MRE11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 MMACHC Louise Daugherty reviewed gene: MMACHC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 MECR Louise Daugherty reviewed gene: MECR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 MARS2 Louise Daugherty reviewed gene: MARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 MAG Louise Daugherty commented on gene: MAG: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.11 L1CAM Louise Daugherty reviewed gene: L1CAM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KMT2B Louise Daugherty reviewed gene: KMT2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KIF1C Louise Daugherty reviewed gene: KIF1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KIF1A Louise Daugherty reviewed gene: KIF1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KIDINS220 Louise Daugherty reviewed gene: KIDINS220: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KDM5C Louise Daugherty commented on gene: KDM5C: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.11 KCNQ3 Louise Daugherty reviewed gene: KCNQ3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KCNQ2 Louise Daugherty reviewed gene: KCNQ2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KCNK18 Louise Daugherty commented on gene: KCNK18: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.11 KCNJ10 Louise Daugherty reviewed gene: KCNJ10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KCNA1 Louise Daugherty reviewed gene: KCNA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ITPR1 Louise Daugherty reviewed gene: ITPR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 IBA57 Louise Daugherty commented on gene: IBA57: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.11 HSPD1 Louise Daugherty reviewed gene: HSPD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 HPCA Louise Daugherty reviewed gene: HPCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 HACE1 Louise Daugherty reviewed gene: HACE1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GRM1 Louise Daugherty reviewed gene: GRM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GRID2 Louise Daugherty reviewed gene: GRID2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GPAA1 Louise Daugherty reviewed gene: GPAA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GOSR2 Louise Daugherty reviewed gene: GOSR2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GNAO1 Louise Daugherty reviewed gene: GNAO1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GNAL Louise Daugherty commented on gene: GNAL: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.11 GLRB Louise Daugherty reviewed gene: GLRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GLRA1 Louise Daugherty reviewed gene: GLRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GJC2 Louise Daugherty reviewed gene: GJC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GCH1 Louise Daugherty commented on gene: GCH1: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.11 FXN Louise Daugherty reviewed gene: FXN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FOLR1 Louise Daugherty reviewed gene: FOLR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FLVCR1 Louise Daugherty reviewed gene: FLVCR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FGF14 Louise Daugherty reviewed gene: FGF14: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FARS2 Louise Daugherty reviewed gene: FARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FA2H Louise Daugherty reviewed gene: FA2H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 EXOSC3 Louise Daugherty reviewed gene: EXOSC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ERLIN2 Louise Daugherty reviewed gene: ERLIN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DNAJC19 Louise Daugherty reviewed gene: DNAJC19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DMXL2 Louise Daugherty commented on gene: DMXL2: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.11 DDHD2 Louise Daugherty reviewed gene: DDHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DDHD1 Louise Daugherty reviewed gene: DDHD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DCAF17 Louise Daugherty reviewed gene: DCAF17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DARS Louise Daugherty commented on gene: DARS: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.11 CWF19L1 Louise Daugherty reviewed gene: CWF19L1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CSTB Louise Daugherty reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 COX20 Louise Daugherty reviewed gene: COX20: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 COG5 Louise Daugherty commented on gene: COG5: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.11 CIZ1 Louise Daugherty commented on gene: CIZ1: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.11 CHMP1A Louise Daugherty reviewed gene: CHMP1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CDK16 Louise Daugherty commented on gene: CDK16: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.11 CASK Louise Daugherty reviewed gene: CASK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CAMTA1 Louise Daugherty reviewed gene: CAMTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CACNB4 Louise Daugherty reviewed gene: CACNB4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CACNA1A Louise Daugherty reviewed gene: CACNA1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CA8 Louise Daugherty reviewed gene: CA8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 C12orf65 Louise Daugherty reviewed gene: C12orf65: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 BSCL2 Louise Daugherty reviewed gene: BSCL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 B4GALNT1 Louise Daugherty reviewed gene: B4GALNT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ATP7B Louise Daugherty reviewed gene: ATP7B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ATP1A2 Louise Daugherty reviewed gene: ATP1A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ATM Louise Daugherty reviewed gene: ATM: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ATL1 Louise Daugherty reviewed gene: ATL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ATCAY Louise Daugherty reviewed gene: ATCAY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ARG1 Louise Daugherty reviewed gene: ARG1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 APTX Louise Daugherty reviewed gene: APTX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 AP4S1 Louise Daugherty reviewed gene: AP4S1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 AP4M1 Louise Daugherty reviewed gene: AP4M1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 AP4E1 Louise Daugherty reviewed gene: AP4E1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 AP4B1 Louise Daugherty reviewed gene: AP4B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 AP1S2 Louise Daugherty reviewed gene: AP1S2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ANO3 Louise Daugherty reviewed gene: ANO3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ANO10 Louise Daugherty reviewed gene: ANO10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 AMPD2 Louise Daugherty reviewed gene: AMPD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ALDH18A1 Louise Daugherty reviewed gene: ALDH18A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 AIMP1 Louise Daugherty edited their review of gene: AIMP1: Added comment: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.; Changed rating: AMBER
Adult onset neurodegenerative disorder v1.11 ADCY5 Louise Daugherty reviewed gene: ADCY5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ADAR Louise Daugherty reviewed gene: ADAR: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ABHD12 Louise Daugherty reviewed gene: ABHD12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ABCB7 Louise Daugherty reviewed gene: ABCB7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 AAAS Louise Daugherty reviewed gene: AAAS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CHCHD10 Louise Daugherty commented on gene: CHCHD10: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.11 XPR1 Louise Daugherty reviewed gene: XPR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 WDR45 Louise Daugherty reviewed gene: WDR45: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 VPS35 Louise Daugherty reviewed gene: VPS35: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 VPS13A Louise Daugherty reviewed gene: VPS13A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 VCP Louise Daugherty reviewed gene: VCP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 VAPB Louise Daugherty reviewed gene: VAPB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 UBQLN2 Louise Daugherty reviewed gene: UBQLN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TYROBP Louise Daugherty reviewed gene: TYROBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TUBB4A Louise Daugherty reviewed gene: TUBB4A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TTC19 Louise Daugherty reviewed gene: TTC19: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TREM2 Louise Daugherty reviewed gene: TREM2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TMEM240 Louise Daugherty reviewed gene: TMEM240: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TBK1 Louise Daugherty reviewed gene: TBK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TARDBP Louise Daugherty reviewed gene: TARDBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 TAF1 Louise Daugherty reviewed gene: TAF1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SYNJ1 Louise Daugherty reviewed gene: SYNJ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SQSTM1 Louise Daugherty reviewed gene: SQSTM1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SPG21 Louise Daugherty reviewed gene: SPG21: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SPG11 Louise Daugherty reviewed gene: SPG11: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SPAST Louise Daugherty reviewed gene: SPAST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SOD1 Louise Daugherty reviewed gene: SOD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SNCA Louise Daugherty reviewed gene: SNCA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC6A3 Louise Daugherty reviewed gene: SLC6A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC30A10 Louise Daugherty reviewed gene: SLC30A10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SLC20A2 Louise Daugherty reviewed gene: SLC20A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SIGMAR1 Louise Daugherty reviewed gene: SIGMAR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SGCE Louise Daugherty reviewed gene: SGCE: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 SETX Louise Daugherty reviewed gene: SETX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 RNF216 Louise Daugherty reviewed gene: RNF216: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PSEN2 Louise Daugherty reviewed gene: PSEN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PSEN1 Louise Daugherty reviewed gene: PSEN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PRNP Louise Daugherty reviewed gene: PRNP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PRKRA Louise Daugherty reviewed gene: PRKRA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PRKN Louise Daugherty reviewed gene: PRKN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PLA2G6 Louise Daugherty reviewed gene: PLA2G6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PINK1 Louise Daugherty reviewed gene: PINK1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PFN1 Louise Daugherty reviewed gene: PFN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PDGFRB Louise Daugherty reviewed gene: PDGFRB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PDGFB Louise Daugherty reviewed gene: PDGFB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PARK7 Louise Daugherty reviewed gene: PARK7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 PANK2 Louise Daugherty reviewed gene: PANK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 OPTN Louise Daugherty reviewed gene: OPTN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 NPC2 Louise Daugherty reviewed gene: NPC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 NPC1 Louise Daugherty reviewed gene: NPC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 NOTCH3 Louise Daugherty reviewed gene: NOTCH3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 NHLRC1 Louise Daugherty reviewed gene: NHLRC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KIAA1161 Louise Daugherty reviewed gene: KIAA1161: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 MAPT Louise Daugherty reviewed gene: MAPT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 LYST Louise Daugherty reviewed gene: LYST: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 LRRK2 Louise Daugherty reviewed gene: LRRK2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KIF5A Louise Daugherty reviewed gene: KIF5A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KCND3 Louise Daugherty reviewed gene: KCND3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 KCNC3 Louise Daugherty reviewed gene: KCNC3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ITM2B Louise Daugherty reviewed gene: ITM2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 HTRA2 Louise Daugherty reviewed gene: HTRA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 HTRA1 Louise Daugherty reviewed gene: HTRA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 HNRNPA1 Louise Daugherty reviewed gene: HNRNPA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 HEXB Louise Daugherty reviewed gene: HEXB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 HEXA Louise Daugherty reviewed gene: HEXA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GRN Louise Daugherty reviewed gene: GRN: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GFAP Louise Daugherty reviewed gene: GFAP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GBA2 Louise Daugherty reviewed gene: GBA2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 GBA Louise Daugherty reviewed gene: GBA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FUS Louise Daugherty reviewed gene: FUS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FTL Louise Daugherty reviewed gene: FTL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FMR1 Louise Daugherty reviewed gene: FMR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FIG4 Louise Daugherty reviewed gene: FIG4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 FBXO7 Louise Daugherty reviewed gene: FBXO7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 EPM2A Louise Daugherty reviewed gene: EPM2A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ELOVL4 Louise Daugherty reviewed gene: ELOVL4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 EIF2B5 Louise Daugherty reviewed gene: EIF2B5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 EIF2B4 Louise Daugherty reviewed gene: EIF2B4: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 EIF2B3 Louise Daugherty reviewed gene: EIF2B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 EIF2B2 Louise Daugherty reviewed gene: EIF2B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 EIF2B1 Louise Daugherty reviewed gene: EIF2B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DNMT1 Louise Daugherty reviewed gene: DNMT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DNAJC6 Louise Daugherty reviewed gene: DNAJC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DNAJC5 Louise Daugherty reviewed gene: DNAJC5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DCTN1 Louise Daugherty reviewed gene: DCTN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 DARS2 Louise Daugherty reviewed gene: DARS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CYP7B1 Louise Daugherty reviewed gene: CYP7B1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CYP2U1 Louise Daugherty reviewed gene: CYP2U1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CYP27A1 Louise Daugherty reviewed gene: CYP27A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CSF1R Louise Daugherty reviewed gene: CSF1R: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CP Louise Daugherty reviewed gene: CP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 COQ8A Louise Daugherty reviewed gene: COQ8A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 COASY Louise Daugherty reviewed gene: COASY: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CLN6 Louise Daugherty reviewed gene: CLN6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CLCN2 Louise Daugherty reviewed gene: CLCN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CHMP2B Louise Daugherty reviewed gene: CHMP2B: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CHCHD2 Louise Daugherty commented on gene: CHCHD2: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.11 CCNF Louise Daugherty reviewed gene: CCNF: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CAPN1 Louise Daugherty reviewed gene: CAPN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 CACNA1G Louise Daugherty reviewed gene: CACNA1G: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 C19orf12 Louise Daugherty reviewed gene: C19orf12: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ATXN7 Louise Daugherty commented on gene: ATXN7: Review and rating submitted byJames Polke (North Bristol NHS Trust), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Adult onset neurodegenerative disorder v1.11 ATP1A3 Louise Daugherty reviewed gene: ATP1A3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ATP13A2 Louise Daugherty reviewed gene: ATP13A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ARSA Louise Daugherty reviewed gene: ARSA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 APP Louise Daugherty reviewed gene: APP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ANG Louise Daugherty reviewed gene: ANG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ALS2 Louise Daugherty reviewed gene: ALS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 AFG3L2 Louise Daugherty reviewed gene: AFG3L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.11 ABCD1 Louise Daugherty reviewed gene: ABCD1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ZFYVE26 James Polke reviewed gene: ZFYVE26: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 YY1 James Polke reviewed gene: YY1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 WWOX James Polke reviewed gene: WWOX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 WFS1 James Polke reviewed gene: WFS1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 WDR81 James Polke reviewed gene: WDR81: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 WDR73 James Polke reviewed gene: WDR73: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 WDR45B James Polke reviewed gene: WDR45B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 WASHC5 James Polke reviewed gene: WASHC5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 VRK1 James Polke reviewed gene: VRK1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 VPS13D James Polke reviewed gene: VPS13D: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 VLDLR James Polke reviewed gene: VLDLR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 VAMP1 James Polke reviewed gene: VAMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 VAC14 James Polke reviewed gene: VAC14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TWNK James Polke reviewed gene: TWNK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TTPA James Polke reviewed gene: TTPA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TTBK2 James Polke reviewed gene: TTBK2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TSEN54 James Polke reviewed gene: TSEN54: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TSEN2 James Polke reviewed gene: TSEN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TPP1 James Polke reviewed gene: TPP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TIA1 James Polke reviewed gene: TIA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TOR1A James Polke reviewed gene: TOR1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 THAP1 James Polke reviewed gene: THAP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TH James Polke reviewed gene: TH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TGM6 James Polke reviewed gene: TGM6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SYNE1 James Polke reviewed gene: SYNE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 STUB1 James Polke reviewed gene: STUB1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SRD5A3 James Polke reviewed gene: SRD5A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SPTBN2 James Polke reviewed gene: SPTBN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SPR James Polke reviewed gene: SPR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SPG7 James Polke reviewed gene: SPG7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SPART James Polke reviewed gene: SPART: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SNX14 James Polke reviewed gene: SNX14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC9A6 James Polke reviewed gene: SLC9A6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC6A5 James Polke reviewed gene: SLC6A5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC52A3 James Polke reviewed gene: SLC52A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC52A2 James Polke reviewed gene: SLC52A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC39A14 James Polke reviewed gene: SLC39A14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC2A1 James Polke reviewed gene: SLC2A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC25A46 James Polke reviewed gene: SLC25A46: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC1A4 James Polke reviewed gene: SLC1A4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC1A3 James Polke reviewed gene: SLC1A3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC16A2 James Polke reviewed gene: SLC16A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SIL1 James Polke reviewed gene: SIL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SERAC1 James Polke reviewed gene: SERAC1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SEPSECS James Polke reviewed gene: SEPSECS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SCN8A James Polke reviewed gene: SCN8A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SCN1A James Polke reviewed gene: SCN1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SAR1B James Polke reviewed gene: SAR1B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SACS James Polke reviewed gene: SACS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 RTN2 James Polke reviewed gene: RTN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 RNF170 James Polke reviewed gene: RNF170: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 REEP2 James Polke reviewed gene: REEP2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 REEP1 James Polke reviewed gene: REEP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 RARS2 James Polke reviewed gene: RARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 RAB39B James Polke reviewed gene: RAB39B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PRRT2 James Polke reviewed gene: PRRT2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PRKCG James Polke reviewed gene: PRKCG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 POLR3A James Polke reviewed gene: POLR3A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 POLG James Polke reviewed gene: POLG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PNPLA6 James Polke reviewed gene: PNPLA6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PNKP James Polke reviewed gene: PNKP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PNKD James Polke reviewed gene: PNKD: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PMPCA James Polke reviewed gene: PMPCA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PLP1 James Polke reviewed gene: PLP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PEX16 James Polke reviewed gene: PEX16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PDYN James Polke reviewed gene: PDYN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PAX6 James Polke reviewed gene: PAX6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 OPHN1 James Polke reviewed gene: OPHN1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 OPA3 James Polke reviewed gene: OPA3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 NKX6-2 James Polke reviewed gene: NKX6-2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 NIPA1 James Polke reviewed gene: NIPA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 NEFH James Polke reviewed gene: NEFH: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 MVK James Polke reviewed gene: MVK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 MTTP James Polke reviewed gene: MTTP: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 MT-ATP6 James Polke reviewed gene: MT-ATP6: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 MRE11 James Polke reviewed gene: MRE11: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 MMACHC James Polke reviewed gene: MMACHC: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 MECR James Polke reviewed gene: MECR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 MARS2 James Polke reviewed gene: MARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 MAG James Polke reviewed gene: MAG: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 L1CAM James Polke reviewed gene: L1CAM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KMT2B James Polke reviewed gene: KMT2B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KIF1C James Polke reviewed gene: KIF1C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KIF1A James Polke reviewed gene: KIF1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KIDINS220 James Polke reviewed gene: KIDINS220: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KDM5C James Polke reviewed gene: KDM5C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KCNQ3 James Polke reviewed gene: KCNQ3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KCNQ2 James Polke reviewed gene: KCNQ2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KCNK18 James Polke reviewed gene: KCNK18: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KCNJ10 James Polke reviewed gene: KCNJ10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KCNA1 James Polke reviewed gene: KCNA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ITPR1 James Polke reviewed gene: ITPR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 IBA57 James Polke reviewed gene: IBA57: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 HSPD1 James Polke reviewed gene: HSPD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 HPCA James Polke reviewed gene: HPCA: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 HACE1 James Polke reviewed gene: HACE1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GRM1 James Polke reviewed gene: GRM1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GRID2 James Polke reviewed gene: GRID2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GPAA1 James Polke reviewed gene: GPAA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GOSR2 James Polke reviewed gene: GOSR2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GNAO1 James Polke reviewed gene: GNAO1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GNAL James Polke reviewed gene: GNAL: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GLRB James Polke reviewed gene: GLRB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GLRA1 James Polke reviewed gene: GLRA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GJC2 James Polke reviewed gene: GJC2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GCH1 James Polke reviewed gene: GCH1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 FXN James Polke reviewed gene: FXN: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 FOLR1 James Polke reviewed gene: FOLR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 FLVCR1 James Polke reviewed gene: FLVCR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 FGF14 James Polke reviewed gene: FGF14: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 FARS2 James Polke reviewed gene: FARS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 FA2H James Polke reviewed gene: FA2H: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 EXOSC3 James Polke reviewed gene: EXOSC3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ERLIN2 James Polke reviewed gene: ERLIN2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 DNAJC19 James Polke reviewed gene: DNAJC19: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 DMXL2 James Polke reviewed gene: DMXL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 DDHD2 James Polke reviewed gene: DDHD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 DDHD1 James Polke reviewed gene: DDHD1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 DCAF17 James Polke reviewed gene: DCAF17: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 DARS James Polke reviewed gene: DARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CWF19L1 James Polke reviewed gene: CWF19L1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CSTB James Polke reviewed gene: CSTB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 COX20 James Polke reviewed gene: COX20: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 COG5 James Polke reviewed gene: COG5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CIZ1 James Polke reviewed gene: CIZ1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CHMP1A James Polke reviewed gene: CHMP1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CDK16 James Polke reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CASK James Polke reviewed gene: CASK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CAMTA1 James Polke reviewed gene: CAMTA1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CACNB4 James Polke reviewed gene: CACNB4: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CACNA1A James Polke reviewed gene: CACNA1A: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CA8 James Polke reviewed gene: CA8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 C12orf65 James Polke reviewed gene: C12orf65: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 BSCL2 James Polke reviewed gene: BSCL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 B4GALNT1 James Polke reviewed gene: B4GALNT1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ATP7B James Polke reviewed gene: ATP7B: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ATP1A2 James Polke reviewed gene: ATP1A2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ATM James Polke reviewed gene: ATM: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ATL1 James Polke reviewed gene: ATL1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ATCAY James Polke reviewed gene: ATCAY: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ARG1 James Polke reviewed gene: ARG1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 APTX James Polke reviewed gene: APTX: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 AP4S1 James Polke reviewed gene: AP4S1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 AP4M1 James Polke reviewed gene: AP4M1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 AP4E1 James Polke reviewed gene: AP4E1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 AP4B1 James Polke reviewed gene: AP4B1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 AP1S2 James Polke reviewed gene: AP1S2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ANO3 James Polke reviewed gene: ANO3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ANO10 James Polke reviewed gene: ANO10: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 AMPD2 James Polke reviewed gene: AMPD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ALDH18A1 James Polke reviewed gene: ALDH18A1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 AIMP1 James Polke reviewed gene: AIMP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ADCY5 James Polke reviewed gene: ADCY5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ADAR James Polke reviewed gene: ADAR: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ABHD12 James Polke reviewed gene: ABHD12: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ABCB7 James Polke reviewed gene: ABCB7: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 AAAS James Polke reviewed gene: AAAS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CHCHD10 James Polke reviewed gene: CHCHD10: Rating: AMBER; Mode of pathogenicity: ; Publications: 30014597; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 XPR1 James Polke reviewed gene: XPR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 WDR45 James Polke reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 VPS35 James Polke reviewed gene: VPS35: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 VPS13A James Polke reviewed gene: VPS13A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 VCP James Polke reviewed gene: VCP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 VAPB James Polke reviewed gene: VAPB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 UBQLN2 James Polke reviewed gene: UBQLN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 TYROBP James Polke reviewed gene: TYROBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 TUBB4A James Polke reviewed gene: TUBB4A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 TTC19 James Polke reviewed gene: TTC19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TREM2 James Polke reviewed gene: TREM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TMEM240 James Polke reviewed gene: TMEM240: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TBK1 James Polke reviewed gene: TBK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 TARDBP James Polke reviewed gene: TARDBP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 TAF1 James Polke reviewed gene: TAF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 SYNJ1 James Polke reviewed gene: SYNJ1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SQSTM1 James Polke reviewed gene: SQSTM1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SPG21 James Polke reviewed gene: SPG21: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SPG11 James Polke reviewed gene: SPG11: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SPAST James Polke reviewed gene: SPAST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SOD1 James Polke reviewed gene: SOD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 SNCA James Polke reviewed gene: SNCA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 SLC6A3 James Polke reviewed gene: SLC6A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC30A10 James Polke reviewed gene: SLC30A10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SLC20A2 James Polke reviewed gene: SLC20A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SIGMAR1 James Polke reviewed gene: SIGMAR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 SGCE James Polke reviewed gene: SGCE: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 SETX James Polke reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 RNF216 James Polke reviewed gene: RNF216: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PSEN2 James Polke reviewed gene: PSEN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 PSEN1 James Polke reviewed gene: PSEN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 PRNP James Polke reviewed gene: PRNP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 PRKRA James Polke reviewed gene: PRKRA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PRKN James Polke reviewed gene: PRKN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 PLA2G6 James Polke reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 PINK1 James Polke reviewed gene: PINK1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 PFN1 James Polke reviewed gene: PFN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PDGFRB James Polke reviewed gene: PDGFRB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PDGFB James Polke reviewed gene: PDGFB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 PARK7 James Polke reviewed gene: PARK7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 PANK2 James Polke reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 OPTN James Polke reviewed gene: OPTN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 NPC2 James Polke reviewed gene: NPC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 NPC1 James Polke reviewed gene: NPC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 NOTCH3 James Polke reviewed gene: NOTCH3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 NHLRC1 James Polke reviewed gene: NHLRC1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KIAA1161 James Polke reviewed gene: KIAA1161: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 MAPT James Polke reviewed gene: MAPT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 LYST James Polke reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 LRRK2 James Polke reviewed gene: LRRK2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 KIF5A James Polke reviewed gene: KIF5A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KCND3 James Polke reviewed gene: KCND3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 KCNC3 James Polke reviewed gene: KCNC3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ITM2B James Polke reviewed gene: ITM2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 HTRA2 James Polke reviewed gene: HTRA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 HTRA1 James Polke reviewed gene: HTRA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 HNRNPA1 James Polke reviewed gene: HNRNPA1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 HEXB James Polke reviewed gene: HEXB: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 HEXA James Polke reviewed gene: HEXA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GRN James Polke reviewed gene: GRN: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 GFAP James Polke reviewed gene: GFAP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GBA2 James Polke reviewed gene: GBA2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 GBA James Polke reviewed gene: GBA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 FUS James Polke reviewed gene: FUS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 FTL James Polke reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 FMR1 James Polke reviewed gene: FMR1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 FIG4 James Polke reviewed gene: FIG4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 FBXO7 James Polke reviewed gene: FBXO7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 EPM2A James Polke reviewed gene: EPM2A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ELOVL4 James Polke reviewed gene: ELOVL4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 EIF2B5 James Polke reviewed gene: EIF2B5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 EIF2B4 James Polke reviewed gene: EIF2B4: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 EIF2B3 James Polke reviewed gene: EIF2B3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 EIF2B2 James Polke reviewed gene: EIF2B2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 EIF2B1 James Polke reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 DNMT1 James Polke reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 DNAJC6 James Polke reviewed gene: DNAJC6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 DNAJC5 James Polke reviewed gene: DNAJC5: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 DCTN1 James Polke reviewed gene: DCTN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 DARS2 James Polke reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CYP7B1 James Polke reviewed gene: CYP7B1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CYP2U1 James Polke reviewed gene: CYP2U1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CYP27A1 James Polke reviewed gene: CYP27A1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CSF1R James Polke reviewed gene: CSF1R: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 CP James Polke reviewed gene: CP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 COQ8A James Polke reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 COASY James Polke reviewed gene: COASY: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CLN6 James Polke reviewed gene: CLN6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CLCN2 James Polke reviewed gene: CLCN2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CHMP2B James Polke reviewed gene: CHMP2B: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 CHCHD2 James Polke reviewed gene: CHCHD2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CCNF James Polke reviewed gene: CCNF: Rating: GREEN; Mode of pathogenicity: ; Publications: 27080313, 29102476, 30008669; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CAPN1 James Polke reviewed gene: CAPN1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 CACNA1G James Polke reviewed gene: CACNA1G: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 C19orf12 James Polke reviewed gene: C19orf12: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ATXN7 James Polke reviewed gene: ATXN7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 ATP1A3 James Polke reviewed gene: ATP1A3: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 ATP13A2 James Polke reviewed gene: ATP13A2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ARSA James Polke reviewed gene: ARSA: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 APP James Polke reviewed gene: APP: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 ANG James Polke reviewed gene: ANG: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 ALS2 James Polke reviewed gene: ALS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: ; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.10 AFG3L2 James Polke reviewed gene: AFG3L2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.10 ABCD1 James Polke reviewed gene: ABCD1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.9 ZFYVE26 Louise Daugherty Source NHS GMS was added to ZFYVE26.
Adult onset neurodegenerative disorder v1.9 YY1 Louise Daugherty Source NHS GMS was added to YY1.
Adult onset neurodegenerative disorder v1.9 WWOX Louise Daugherty Source NHS GMS was added to WWOX.
Adult onset neurodegenerative disorder v1.9 WFS1 Louise Daugherty Source NHS GMS was added to WFS1.
Adult onset neurodegenerative disorder v1.9 WDR81 Louise Daugherty Source NHS GMS was added to WDR81.
Adult onset neurodegenerative disorder v1.9 WDR73 Louise Daugherty Source NHS GMS was added to WDR73.
Adult onset neurodegenerative disorder v1.9 WDR45B Louise Daugherty Source NHS GMS was added to WDR45B.
Adult onset neurodegenerative disorder v1.9 WASHC5 Louise Daugherty Source NHS GMS was added to WASHC5.
Adult onset neurodegenerative disorder v1.9 VRK1 Louise Daugherty Source NHS GMS was added to VRK1.
Adult onset neurodegenerative disorder v1.9 VPS13D Louise Daugherty Source NHS GMS was added to VPS13D.
Adult onset neurodegenerative disorder v1.9 VLDLR Louise Daugherty Source NHS GMS was added to VLDLR.
Adult onset neurodegenerative disorder v1.9 VAC14 Louise Daugherty Source NHS GMS was added to VAC14.
Adult onset neurodegenerative disorder v1.9 TWNK Louise Daugherty Source NHS GMS was added to TWNK.
Adult onset neurodegenerative disorder v1.9 TTPA Louise Daugherty Source NHS GMS was added to TTPA.
Adult onset neurodegenerative disorder v1.9 TTBK2 Louise Daugherty Source NHS GMS was added to TTBK2.
Adult onset neurodegenerative disorder v1.9 TSEN54 Louise Daugherty Source NHS GMS was added to TSEN54.
Adult onset neurodegenerative disorder v1.9 TSEN2 Louise Daugherty Source NHS GMS was added to TSEN2.
Adult onset neurodegenerative disorder v1.9 TPP1 Louise Daugherty Source NHS GMS was added to TPP1.
Adult onset neurodegenerative disorder v1.9 TIA1 Louise Daugherty Source NHS GMS was added to TIA1.
Adult onset neurodegenerative disorder v1.9 TOR1A Louise Daugherty Source NHS GMS was added to TOR1A.
Adult onset neurodegenerative disorder v1.9 THAP1 Louise Daugherty Source NHS GMS was added to THAP1.
Adult onset neurodegenerative disorder v1.9 TH Louise Daugherty Source NHS GMS was added to TH.
Adult onset neurodegenerative disorder v1.9 TGM6 Louise Daugherty Source NHS GMS was added to TGM6.
Adult onset neurodegenerative disorder v1.9 SYNE1 Louise Daugherty Source NHS GMS was added to SYNE1.
Adult onset neurodegenerative disorder v1.9 STUB1 Louise Daugherty Source NHS GMS was added to STUB1.
Adult onset neurodegenerative disorder v1.9 SRD5A3 Louise Daugherty Source NHS GMS was added to SRD5A3.
Adult onset neurodegenerative disorder v1.9 SPTBN2 Louise Daugherty Source NHS GMS was added to SPTBN2.
Adult onset neurodegenerative disorder v1.9 SPR Louise Daugherty Source NHS GMS was added to SPR.
Adult onset neurodegenerative disorder v1.9 SPG7 Louise Daugherty Source NHS GMS was added to SPG7.
Adult onset neurodegenerative disorder v1.9 SPART Louise Daugherty Source NHS GMS was added to SPART.
Adult onset neurodegenerative disorder v1.9 SNX14 Louise Daugherty Source NHS GMS was added to SNX14.
Adult onset neurodegenerative disorder v1.9 SLC9A6 Louise Daugherty Source NHS GMS was added to SLC9A6.
Adult onset neurodegenerative disorder v1.9 SLC6A5 Louise Daugherty Source NHS GMS was added to SLC6A5.
Adult onset neurodegenerative disorder v1.9 SLC52A3 Louise Daugherty Source NHS GMS was added to SLC52A3.
Adult onset neurodegenerative disorder v1.9 SLC52A2 Louise Daugherty Source NHS GMS was added to SLC52A2.
Adult onset neurodegenerative disorder v1.9 SLC39A14 Louise Daugherty Source NHS GMS was added to SLC39A14.
Adult onset neurodegenerative disorder v1.9 SLC2A1 Louise Daugherty Source NHS GMS was added to SLC2A1.
Adult onset neurodegenerative disorder v1.9 SLC25A46 Louise Daugherty Source NHS GMS was added to SLC25A46.
Adult onset neurodegenerative disorder v1.9 SLC1A4 Louise Daugherty Source NHS GMS was added to SLC1A4.
Adult onset neurodegenerative disorder v1.9 SLC1A3 Louise Daugherty Source NHS GMS was added to SLC1A3.
Adult onset neurodegenerative disorder v1.9 SLC16A2 Louise Daugherty Source NHS GMS was added to SLC16A2.
Adult onset neurodegenerative disorder v1.9 SIL1 Louise Daugherty Source NHS GMS was added to SIL1.
Adult onset neurodegenerative disorder v1.9 SERAC1 Louise Daugherty Source NHS GMS was added to SERAC1.
Adult onset neurodegenerative disorder v1.9 SEPSECS Louise Daugherty Source NHS GMS was added to SEPSECS.
Adult onset neurodegenerative disorder v1.9 SCN8A Louise Daugherty Source NHS GMS was added to SCN8A.
Adult onset neurodegenerative disorder v1.9 SCN1A Louise Daugherty Source NHS GMS was added to SCN1A.
Adult onset neurodegenerative disorder v1.9 SAR1B Louise Daugherty Source NHS GMS was added to SAR1B.
Adult onset neurodegenerative disorder v1.9 SACS Louise Daugherty Source NHS GMS was added to SACS.
Adult onset neurodegenerative disorder v1.9 RTN2 Louise Daugherty Source NHS GMS was added to RTN2.
Adult onset neurodegenerative disorder v1.9 RNF170 Louise Daugherty Source NHS GMS was added to RNF170.
Adult onset neurodegenerative disorder v1.9 REEP1 Louise Daugherty Source NHS GMS was added to REEP1.
Adult onset neurodegenerative disorder v1.9 RARS2 Louise Daugherty Source NHS GMS was added to RARS2.
Adult onset neurodegenerative disorder v1.9 RAB39B Louise Daugherty Source NHS GMS was added to RAB39B.
Adult onset neurodegenerative disorder v1.9 PRRT2 Louise Daugherty Source NHS GMS was added to PRRT2.
Adult onset neurodegenerative disorder v1.9 PRKCG Louise Daugherty Source NHS GMS was added to PRKCG.
Adult onset neurodegenerative disorder v1.9 POLR3A Louise Daugherty Source NHS GMS was added to POLR3A.
Adult onset neurodegenerative disorder v1.9 POLG Louise Daugherty Source NHS GMS was added to POLG.
Adult onset neurodegenerative disorder v1.9 PNPLA6 Louise Daugherty Source NHS GMS was added to PNPLA6.
Adult onset neurodegenerative disorder v1.9 PNKP Louise Daugherty Source NHS GMS was added to PNKP.
Adult onset neurodegenerative disorder v1.9 PNKD Louise Daugherty Source NHS GMS was added to PNKD.
Adult onset neurodegenerative disorder v1.9 PMPCA Louise Daugherty Source NHS GMS was added to PMPCA.
Adult onset neurodegenerative disorder v1.9 PLP1 Louise Daugherty Source NHS GMS was added to PLP1.
Adult onset neurodegenerative disorder v1.9 PEX16 Louise Daugherty Source NHS GMS was added to PEX16.
Adult onset neurodegenerative disorder v1.9 PDYN Louise Daugherty Source NHS GMS was added to PDYN.
Adult onset neurodegenerative disorder v1.9 PAX6 Louise Daugherty Source NHS GMS was added to PAX6.
Adult onset neurodegenerative disorder v1.9 OPHN1 Louise Daugherty Source NHS GMS was added to OPHN1.
Adult onset neurodegenerative disorder v1.9 OPA3 Louise Daugherty Source NHS GMS was added to OPA3.
Adult onset neurodegenerative disorder v1.9 NKX6-2 Louise Daugherty Source NHS GMS was added to NKX6-2.
Adult onset neurodegenerative disorder v1.9 NIPA1 Louise Daugherty Source NHS GMS was added to NIPA1.
Adult onset neurodegenerative disorder v1.9 MTTP Louise Daugherty Source NHS GMS was added to MTTP.
Adult onset neurodegenerative disorder v1.9 MT-ATP6 Louise Daugherty Source NHS GMS was added to MT-ATP6.
Adult onset neurodegenerative disorder v1.9 MRE11 Louise Daugherty Source NHS GMS was added to MRE11.
Adult onset neurodegenerative disorder v1.9 MMACHC Louise Daugherty Source NHS GMS was added to MMACHC.
Adult onset neurodegenerative disorder v1.9 MECR Louise Daugherty Source NHS GMS was added to MECR.
Adult onset neurodegenerative disorder v1.9 MARS2 Louise Daugherty Source NHS GMS was added to MARS2.
Adult onset neurodegenerative disorder v1.9 L1CAM Louise Daugherty Source NHS GMS was added to L1CAM.
Adult onset neurodegenerative disorder v1.9 KMT2B Louise Daugherty Source NHS GMS was added to KMT2B.
Adult onset neurodegenerative disorder v1.9 KIF1C Louise Daugherty Source NHS GMS was added to KIF1C.
Adult onset neurodegenerative disorder v1.9 KIF1A Louise Daugherty Source NHS GMS was added to KIF1A.
Adult onset neurodegenerative disorder v1.9 KIDINS220 Louise Daugherty Source NHS GMS was added to KIDINS220.
Adult onset neurodegenerative disorder v1.9 KCNQ3 Louise Daugherty Source NHS GMS was added to KCNQ3.
Adult onset neurodegenerative disorder v1.9 KCNQ2 Louise Daugherty Source NHS GMS was added to KCNQ2.
Adult onset neurodegenerative disorder v1.9 KCNJ10 Louise Daugherty Source NHS GMS was added to KCNJ10.
Adult onset neurodegenerative disorder v1.9 KCNA1 Louise Daugherty Source NHS GMS was added to KCNA1.
Adult onset neurodegenerative disorder v1.9 ITPR1 Louise Daugherty Source NHS GMS was added to ITPR1.
Adult onset neurodegenerative disorder v1.9 HSPD1 Louise Daugherty Source NHS GMS was added to HSPD1.
Adult onset neurodegenerative disorder v1.9 HPCA Louise Daugherty Source NHS GMS was added to HPCA.
Adult onset neurodegenerative disorder v1.9 HACE1 Louise Daugherty Source NHS GMS was added to HACE1.
Adult onset neurodegenerative disorder v1.9 GRM1 Louise Daugherty Source NHS GMS was added to GRM1.
Adult onset neurodegenerative disorder v1.9 GRID2 Louise Daugherty Source NHS GMS was added to GRID2.
Adult onset neurodegenerative disorder v1.9 GPAA1 Louise Daugherty Source NHS GMS was added to GPAA1.
Adult onset neurodegenerative disorder v1.9 GOSR2 Louise Daugherty Source NHS GMS was added to GOSR2.
Adult onset neurodegenerative disorder v1.9 GNAO1 Louise Daugherty Source NHS GMS was added to GNAO1.
Adult onset neurodegenerative disorder v1.9 GLRB Louise Daugherty Source NHS GMS was added to GLRB.
Adult onset neurodegenerative disorder v1.9 GLRA1 Louise Daugherty Source NHS GMS was added to GLRA1.
Adult onset neurodegenerative disorder v1.9 GJC2 Louise Daugherty Source NHS GMS was added to GJC2.
Adult onset neurodegenerative disorder v1.9 FXN Louise Daugherty Source NHS GMS was added to FXN.
Adult onset neurodegenerative disorder v1.9 FOLR1 Louise Daugherty Source NHS GMS was added to FOLR1.
Adult onset neurodegenerative disorder v1.9 FLVCR1 Louise Daugherty Source NHS GMS was added to FLVCR1.
Adult onset neurodegenerative disorder v1.9 FGF14 Louise Daugherty Source NHS GMS was added to FGF14.
Adult onset neurodegenerative disorder v1.9 FARS2 Louise Daugherty Source NHS GMS was added to FARS2.
Adult onset neurodegenerative disorder v1.9 FA2H Louise Daugherty Source NHS GMS was added to FA2H.
Adult onset neurodegenerative disorder v1.9 EXOSC3 Louise Daugherty Source NHS GMS was added to EXOSC3.
Adult onset neurodegenerative disorder v1.9 ERLIN2 Louise Daugherty Source NHS GMS was added to ERLIN2.
Adult onset neurodegenerative disorder v1.9 DNAJC19 Louise Daugherty Source NHS GMS was added to DNAJC19.
Adult onset neurodegenerative disorder v1.9 DDHD2 Louise Daugherty Source NHS GMS was added to DDHD2.
Adult onset neurodegenerative disorder v1.9 DDHD1 Louise Daugherty Source NHS GMS was added to DDHD1.
Adult onset neurodegenerative disorder v1.9 DCAF17 Louise Daugherty Source NHS GMS was added to DCAF17.
Adult onset neurodegenerative disorder v1.9 CWF19L1 Louise Daugherty Source NHS GMS was added to CWF19L1.
Adult onset neurodegenerative disorder v1.9 CSTB Louise Daugherty Source NHS GMS was added to CSTB.
Adult onset neurodegenerative disorder v1.9 COX20 Louise Daugherty Source NHS GMS was added to COX20.
Adult onset neurodegenerative disorder v1.9 CHMP1A Louise Daugherty Source NHS GMS was added to CHMP1A.
Adult onset neurodegenerative disorder v1.9 CASK Louise Daugherty Source NHS GMS was added to CASK.
Adult onset neurodegenerative disorder v1.9 CAMTA1 Louise Daugherty Source NHS GMS was added to CAMTA1.
Adult onset neurodegenerative disorder v1.9 CACNB4 Louise Daugherty Source NHS GMS was added to CACNB4.
Adult onset neurodegenerative disorder v1.9 CACNA1A Louise Daugherty Source NHS GMS was added to CACNA1A.
Adult onset neurodegenerative disorder v1.9 CA8 Louise Daugherty Source NHS GMS was added to CA8.
Adult onset neurodegenerative disorder v1.9 C12orf65 Louise Daugherty Source NHS GMS was added to C12orf65.
Adult onset neurodegenerative disorder v1.9 BSCL2 Louise Daugherty Source NHS GMS was added to BSCL2.
Adult onset neurodegenerative disorder v1.9 B4GALNT1 Louise Daugherty Source NHS GMS was added to B4GALNT1.
Adult onset neurodegenerative disorder v1.9 ATP7B Louise Daugherty Source NHS GMS was added to ATP7B.
Adult onset neurodegenerative disorder v1.9 ATP1A2 Louise Daugherty Source NHS GMS was added to ATP1A2.
Adult onset neurodegenerative disorder v1.9 ATM Louise Daugherty Source NHS GMS was added to ATM.
Adult onset neurodegenerative disorder v1.9 ATL1 Louise Daugherty Source NHS GMS was added to ATL1.
Adult onset neurodegenerative disorder v1.9 ATCAY Louise Daugherty Source NHS GMS was added to ATCAY.
Adult onset neurodegenerative disorder v1.9 ARG1 Louise Daugherty Source NHS GMS was added to ARG1.
Adult onset neurodegenerative disorder v1.9 APTX Louise Daugherty Source NHS GMS was added to APTX.
Adult onset neurodegenerative disorder v1.9 AP4S1 Louise Daugherty Source NHS GMS was added to AP4S1.
Adult onset neurodegenerative disorder v1.9 AP4M1 Louise Daugherty Source NHS GMS was added to AP4M1.
Adult onset neurodegenerative disorder v1.9 AP4E1 Louise Daugherty Source NHS GMS was added to AP4E1.
Adult onset neurodegenerative disorder v1.9 AP4B1 Louise Daugherty Source NHS GMS was added to AP4B1.
Adult onset neurodegenerative disorder v1.9 AP1S2 Louise Daugherty Source NHS GMS was added to AP1S2.
Adult onset neurodegenerative disorder v1.9 ANO3 Louise Daugherty Source NHS GMS was added to ANO3.
Adult onset neurodegenerative disorder v1.9 ANO10 Louise Daugherty Source NHS GMS was added to ANO10.
Adult onset neurodegenerative disorder v1.9 AMPD2 Louise Daugherty Source NHS GMS was added to AMPD2.
Adult onset neurodegenerative disorder v1.9 ALDH18A1 Louise Daugherty Source NHS GMS was added to ALDH18A1.
Adult onset neurodegenerative disorder v1.9 AIMP1 Louise Daugherty Source NHS GMS was added to AIMP1.
Adult onset neurodegenerative disorder v1.9 ADCY5 Louise Daugherty Source NHS GMS was added to ADCY5.
Adult onset neurodegenerative disorder v1.9 ADAR Louise Daugherty Source NHS GMS was added to ADAR.
Adult onset neurodegenerative disorder v1.9 ABHD12 Louise Daugherty Source NHS GMS was added to ABHD12.
Adult onset neurodegenerative disorder v1.9 ABCB7 Louise Daugherty Source NHS GMS was added to ABCB7.
Adult onset neurodegenerative disorder v1.9 AAAS Louise Daugherty Source NHS GMS was added to AAAS.
Adult onset neurodegenerative disorder v1.9 XPR1 Louise Daugherty Source NHS GMS was added to XPR1.
Adult onset neurodegenerative disorder v1.9 WDR45 Louise Daugherty Source NHS GMS was added to WDR45.
Adult onset neurodegenerative disorder v1.9 VPS35 Louise Daugherty Source NHS GMS was added to VPS35.
Adult onset neurodegenerative disorder v1.9 VPS13A Louise Daugherty Source NHS GMS was added to VPS13A.
Adult onset neurodegenerative disorder v1.9 VCP Louise Daugherty Source NHS GMS was added to VCP.
Adult onset neurodegenerative disorder v1.9 VAPB Louise Daugherty Source NHS GMS was added to VAPB.
Adult onset neurodegenerative disorder v1.9 UBQLN2 Louise Daugherty Source NHS GMS was added to UBQLN2.
Adult onset neurodegenerative disorder v1.9 TYROBP Louise Daugherty Source NHS GMS was added to TYROBP.
Adult onset neurodegenerative disorder v1.9 TUBB4A Louise Daugherty Source NHS GMS was added to TUBB4A.
Adult onset neurodegenerative disorder v1.9 TTC19 Louise Daugherty Source NHS GMS was added to TTC19.
Adult onset neurodegenerative disorder v1.9 TREM2 Louise Daugherty Source NHS GMS was added to TREM2.
Adult onset neurodegenerative disorder v1.9 TMEM240 Louise Daugherty Source NHS GMS was added to TMEM240.
Adult onset neurodegenerative disorder v1.9 TBK1 Louise Daugherty Source NHS GMS was added to TBK1.
Adult onset neurodegenerative disorder v1.9 TARDBP Louise Daugherty Source NHS GMS was added to TARDBP.
Adult onset neurodegenerative disorder v1.9 TAF1 Louise Daugherty Source NHS GMS was added to TAF1.
Adult onset neurodegenerative disorder v1.9 SYNJ1 Louise Daugherty Source NHS GMS was added to SYNJ1.
Adult onset neurodegenerative disorder v1.9 SQSTM1 Louise Daugherty Source NHS GMS was added to SQSTM1.
Adult onset neurodegenerative disorder v1.9 SPG21 Louise Daugherty Source NHS GMS was added to SPG21.
Adult onset neurodegenerative disorder v1.9 SPG11 Louise Daugherty Source NHS GMS was added to SPG11.
Adult onset neurodegenerative disorder v1.9 SPAST Louise Daugherty Source NHS GMS was added to SPAST.
Adult onset neurodegenerative disorder v1.9 SOD1 Louise Daugherty Source NHS GMS was added to SOD1.
Adult onset neurodegenerative disorder v1.9 SNCA Louise Daugherty Source NHS GMS was added to SNCA.
Adult onset neurodegenerative disorder v1.9 SLC6A3 Louise Daugherty Source NHS GMS was added to SLC6A3.
Adult onset neurodegenerative disorder v1.9 SLC30A10 Louise Daugherty Source NHS GMS was added to SLC30A10.
Adult onset neurodegenerative disorder v1.9 SLC20A2 Louise Daugherty Source NHS GMS was added to SLC20A2.
Adult onset neurodegenerative disorder v1.9 SIGMAR1 Louise Daugherty Source NHS GMS was added to SIGMAR1.
Adult onset neurodegenerative disorder v1.9 SGCE Louise Daugherty Source NHS GMS was added to SGCE.
Adult onset neurodegenerative disorder v1.9 SETX Louise Daugherty Source NHS GMS was added to SETX.
Adult onset neurodegenerative disorder v1.9 RNF216 Louise Daugherty Source NHS GMS was added to RNF216.
Adult onset neurodegenerative disorder v1.9 PSEN2 Louise Daugherty Source NHS GMS was added to PSEN2.
Adult onset neurodegenerative disorder v1.9 PSEN1 Louise Daugherty Source NHS GMS was added to PSEN1.
Adult onset neurodegenerative disorder v1.9 PRNP Louise Daugherty Source NHS GMS was added to PRNP.
Adult onset neurodegenerative disorder v1.9 PRKRA Louise Daugherty Source NHS GMS was added to PRKRA.
Adult onset neurodegenerative disorder v1.9 PRKN Louise Daugherty Source NHS GMS was added to PRKN.
Adult onset neurodegenerative disorder v1.9 PLA2G6 Louise Daugherty Source NHS GMS was added to PLA2G6.
Adult onset neurodegenerative disorder v1.9 PINK1 Louise Daugherty Source NHS GMS was added to PINK1.
Adult onset neurodegenerative disorder v1.9 PFN1 Louise Daugherty Source NHS GMS was added to PFN1.
Adult onset neurodegenerative disorder v1.9 PDGFRB Louise Daugherty Source NHS GMS was added to PDGFRB.
Adult onset neurodegenerative disorder v1.9 PDGFB Louise Daugherty Source NHS GMS was added to PDGFB.
Adult onset neurodegenerative disorder v1.9 PARK7 Louise Daugherty Source NHS GMS was added to PARK7.
Adult onset neurodegenerative disorder v1.9 PANK2 Louise Daugherty Source NHS GMS was added to PANK2.
Adult onset neurodegenerative disorder v1.9 OPTN Louise Daugherty Source NHS GMS was added to OPTN.
Adult onset neurodegenerative disorder v1.9 NPC2 Louise Daugherty Source NHS GMS was added to NPC2.
Adult onset neurodegenerative disorder v1.9 NPC1 Louise Daugherty Source NHS GMS was added to NPC1.
Adult onset neurodegenerative disorder v1.9 NOTCH3 Louise Daugherty Source NHS GMS was added to NOTCH3.
Adult onset neurodegenerative disorder v1.9 NHLRC1 Louise Daugherty Source NHS GMS was added to NHLRC1.
Adult onset neurodegenerative disorder v1.9 KIAA1161 Louise Daugherty Source NHS GMS was added to KIAA1161.
Adult onset neurodegenerative disorder v1.9 MAPT Louise Daugherty Source NHS GMS was added to MAPT.
Adult onset neurodegenerative disorder v1.9 LYST Louise Daugherty Source NHS GMS was added to LYST.
Adult onset neurodegenerative disorder v1.9 LRRK2 Louise Daugherty Source NHS GMS was added to LRRK2.
Adult onset neurodegenerative disorder v1.9 KIF5A Louise Daugherty Source NHS GMS was added to KIF5A.
Adult onset neurodegenerative disorder v1.9 KCND3 Louise Daugherty Source NHS GMS was added to KCND3.
Adult onset neurodegenerative disorder v1.9 KCNC3 Louise Daugherty Source NHS GMS was added to KCNC3.
Adult onset neurodegenerative disorder v1.9 ITM2B Louise Daugherty Source NHS GMS was added to ITM2B.
Adult onset neurodegenerative disorder v1.9 HTRA2 Louise Daugherty Source NHS GMS was added to HTRA2.
Adult onset neurodegenerative disorder v1.9 HTRA1 Louise Daugherty Source NHS GMS was added to HTRA1.
Adult onset neurodegenerative disorder v1.9 HNRNPA1 Louise Daugherty Source NHS GMS was added to HNRNPA1.
Adult onset neurodegenerative disorder v1.9 HEXB Louise Daugherty Source NHS GMS was added to HEXB.
Adult onset neurodegenerative disorder v1.9 HEXA Louise Daugherty Source NHS GMS was added to HEXA.
Adult onset neurodegenerative disorder v1.9 GRN Louise Daugherty Source NHS GMS was added to GRN.
Adult onset neurodegenerative disorder v1.9 GFAP Louise Daugherty Source NHS GMS was added to GFAP.
Adult onset neurodegenerative disorder v1.9 GBA2 Louise Daugherty Source NHS GMS was added to GBA2.
Adult onset neurodegenerative disorder v1.9 GBA Louise Daugherty Source NHS GMS was added to GBA.
Adult onset neurodegenerative disorder v1.9 FUS Louise Daugherty Source NHS GMS was added to FUS.
Adult onset neurodegenerative disorder v1.9 FTL Louise Daugherty Source NHS GMS was added to FTL.
Adult onset neurodegenerative disorder v1.9 FMR1 Louise Daugherty Source NHS GMS was added to FMR1.
Adult onset neurodegenerative disorder v1.9 FIG4 Louise Daugherty Source NHS GMS was added to FIG4.
Adult onset neurodegenerative disorder v1.9 FBXO7 Louise Daugherty Source NHS GMS was added to FBXO7.
Adult onset neurodegenerative disorder v1.9 EPM2A Louise Daugherty Source NHS GMS was added to EPM2A.
Adult onset neurodegenerative disorder v1.9 ELOVL4 Louise Daugherty Source NHS GMS was added to ELOVL4.
Adult onset neurodegenerative disorder v1.9 EIF2B5 Louise Daugherty Source NHS GMS was added to EIF2B5.
Adult onset neurodegenerative disorder v1.9 EIF2B4 Louise Daugherty Source NHS GMS was added to EIF2B4.
Adult onset neurodegenerative disorder v1.9 EIF2B3 Louise Daugherty Source NHS GMS was added to EIF2B3.
Adult onset neurodegenerative disorder v1.9 EIF2B2 Louise Daugherty Source NHS GMS was added to EIF2B2.
Adult onset neurodegenerative disorder v1.9 EIF2B1 Louise Daugherty Source NHS GMS was added to EIF2B1.
Adult onset neurodegenerative disorder v1.9 DNMT1 Louise Daugherty Source NHS GMS was added to DNMT1.
Adult onset neurodegenerative disorder v1.9 DNAJC6 Louise Daugherty Source NHS GMS was added to DNAJC6.
Adult onset neurodegenerative disorder v1.9 DNAJC5 Louise Daugherty Source NHS GMS was added to DNAJC5.
Adult onset neurodegenerative disorder v1.9 DCTN1 Louise Daugherty Source NHS GMS was added to DCTN1.
Adult onset neurodegenerative disorder v1.9 DARS2 Louise Daugherty Source NHS GMS was added to DARS2.
Adult onset neurodegenerative disorder v1.9 CYP7B1 Louise Daugherty Source NHS GMS was added to CYP7B1.
Adult onset neurodegenerative disorder v1.9 CYP2U1 Louise Daugherty Source NHS GMS was added to CYP2U1.
Adult onset neurodegenerative disorder v1.9 CYP27A1 Louise Daugherty Source NHS GMS was added to CYP27A1.
Adult onset neurodegenerative disorder v1.9 CSF1R Louise Daugherty Source NHS GMS was added to CSF1R.
Adult onset neurodegenerative disorder v1.9 CP Louise Daugherty Source NHS GMS was added to CP.
Adult onset neurodegenerative disorder v1.9 COQ8A Louise Daugherty Source NHS GMS was added to COQ8A.
Adult onset neurodegenerative disorder v1.9 COASY Louise Daugherty Source NHS GMS was added to COASY.
Adult onset neurodegenerative disorder v1.9 CLN6 Louise Daugherty Source NHS GMS was added to CLN6.
Adult onset neurodegenerative disorder v1.9 CLCN2 Louise Daugherty Source NHS GMS was added to CLCN2.
Adult onset neurodegenerative disorder v1.9 CHMP2B Louise Daugherty Source NHS GMS was added to CHMP2B.
Adult onset neurodegenerative disorder v1.9 CCNF Louise Daugherty Source NHS GMS was added to CCNF.
Adult onset neurodegenerative disorder v1.9 CAPN1 Louise Daugherty Source NHS GMS was added to CAPN1.
Adult onset neurodegenerative disorder v1.9 CACNA1G Louise Daugherty Source NHS GMS was added to CACNA1G.
Adult onset neurodegenerative disorder v1.9 C19orf12 Louise Daugherty Source NHS GMS was added to C19orf12.
Adult onset neurodegenerative disorder v1.9 ATP1A3 Louise Daugherty Source NHS GMS was added to ATP1A3.
Adult onset neurodegenerative disorder v1.9 ATP13A2 Louise Daugherty Source NHS GMS was added to ATP13A2.
Adult onset neurodegenerative disorder v1.9 ARSA Louise Daugherty Source NHS GMS was added to ARSA.
Adult onset neurodegenerative disorder v1.9 APP Louise Daugherty Source NHS GMS was added to APP.
Adult onset neurodegenerative disorder v1.9 ANG Louise Daugherty Source NHS GMS was added to ANG.
Adult onset neurodegenerative disorder v1.9 ALS2 Louise Daugherty Source NHS GMS was added to ALS2.
Adult onset neurodegenerative disorder v1.9 AFG3L2 Louise Daugherty Source NHS GMS was added to AFG3L2.
Adult onset neurodegenerative disorder v1.9 ABCD1 Louise Daugherty Source NHS GMS was added to ABCD1.
Adult onset neurodegenerative disorder v1.8 ZFYVE26 Louise Daugherty Source London North GLH was added to ZFYVE26.
Adult onset neurodegenerative disorder v1.8 YY1 Louise Daugherty Source London North GLH was added to YY1.
Adult onset neurodegenerative disorder v1.8 WWOX Louise Daugherty Source London North GLH was added to WWOX.
Adult onset neurodegenerative disorder v1.8 WFS1 Louise Daugherty Source London North GLH was added to WFS1.
Adult onset neurodegenerative disorder v1.8 WDR81 Louise Daugherty Source London North GLH was added to WDR81.
Adult onset neurodegenerative disorder v1.8 WDR73 Louise Daugherty Source London North GLH was added to WDR73.
Adult onset neurodegenerative disorder v1.8 WDR45B Louise Daugherty Source London North GLH was added to WDR45B.
Adult onset neurodegenerative disorder v1.8 WASHC5 Louise Daugherty Source London North GLH was added to WASHC5.
Adult onset neurodegenerative disorder v1.8 VRK1 Louise Daugherty Source London North GLH was added to VRK1.
Adult onset neurodegenerative disorder v1.8 VPS13D Louise Daugherty Source London North GLH was added to VPS13D.
Adult onset neurodegenerative disorder v1.8 VLDLR Louise Daugherty Source London North GLH was added to VLDLR.
Adult onset neurodegenerative disorder v1.8 VAMP1 Louise Daugherty Source London North GLH was added to VAMP1.
Adult onset neurodegenerative disorder v1.8 VAC14 Louise Daugherty Source London North GLH was added to VAC14.
Adult onset neurodegenerative disorder v1.8 TWNK Louise Daugherty Source London North GLH was added to TWNK.
Adult onset neurodegenerative disorder v1.8 TTPA Louise Daugherty Source London North GLH was added to TTPA.
Adult onset neurodegenerative disorder v1.8 TTBK2 Louise Daugherty Source London North GLH was added to TTBK2.
Adult onset neurodegenerative disorder v1.8 TSEN54 Louise Daugherty Source London North GLH was added to TSEN54.
Adult onset neurodegenerative disorder v1.8 TSEN2 Louise Daugherty Source London North GLH was added to TSEN2.
Adult onset neurodegenerative disorder v1.8 TPP1 Louise Daugherty Source London North GLH was added to TPP1.
Adult onset neurodegenerative disorder v1.8 TIA1 Louise Daugherty gene: TIA1 was added
gene: TIA1 was added to Neurodegenerative disorders - adult onset. Sources: London North GLH
Mode of inheritance for gene: TIA1 was set to
Adult onset neurodegenerative disorder v1.8 TOR1A Louise Daugherty Source London North GLH was added to TOR1A.
Adult onset neurodegenerative disorder v1.8 THAP1 Louise Daugherty Source London North GLH was added to THAP1.
Adult onset neurodegenerative disorder v1.8 TH Louise Daugherty Source London North GLH was added to TH.
Adult onset neurodegenerative disorder v1.8 TGM6 Louise Daugherty Source London North GLH was added to TGM6.
Adult onset neurodegenerative disorder v1.8 SYNE1 Louise Daugherty Source London North GLH was added to SYNE1.
Adult onset neurodegenerative disorder v1.8 STUB1 Louise Daugherty Source London North GLH was added to STUB1.
Adult onset neurodegenerative disorder v1.8 SRD5A3 Louise Daugherty Source London North GLH was added to SRD5A3.
Adult onset neurodegenerative disorder v1.8 SPTBN2 Louise Daugherty Source London North GLH was added to SPTBN2.
Adult onset neurodegenerative disorder v1.8 SPR Louise Daugherty Source London North GLH was added to SPR.
Adult onset neurodegenerative disorder v1.8 SPG7 Louise Daugherty Source London North GLH was added to SPG7.
Adult onset neurodegenerative disorder v1.8 SPART Louise Daugherty Source London North GLH was added to SPART.
Adult onset neurodegenerative disorder v1.8 SNX14 Louise Daugherty Source London North GLH was added to SNX14.
Adult onset neurodegenerative disorder v1.8 SLC9A6 Louise Daugherty Source London North GLH was added to SLC9A6.
Adult onset neurodegenerative disorder v1.8 SLC6A5 Louise Daugherty Source London North GLH was added to SLC6A5.
Adult onset neurodegenerative disorder v1.8 SLC52A3 Louise Daugherty Source London North GLH was added to SLC52A3.
Adult onset neurodegenerative disorder v1.8 SLC52A2 Louise Daugherty Source London North GLH was added to SLC52A2.
Adult onset neurodegenerative disorder v1.8 SLC39A14 Louise Daugherty Source London North GLH was added to SLC39A14.
Adult onset neurodegenerative disorder v1.8 SLC2A1 Louise Daugherty Source London North GLH was added to SLC2A1.
Adult onset neurodegenerative disorder v1.8 SLC25A46 Louise Daugherty Source London North GLH was added to SLC25A46.
Adult onset neurodegenerative disorder v1.8 SLC1A4 Louise Daugherty Source London North GLH was added to SLC1A4.
Adult onset neurodegenerative disorder v1.8 SLC1A3 Louise Daugherty Source London North GLH was added to SLC1A3.
Adult onset neurodegenerative disorder v1.8 SLC16A2 Louise Daugherty Source London North GLH was added to SLC16A2.
Adult onset neurodegenerative disorder v1.8 SIL1 Louise Daugherty Source London North GLH was added to SIL1.
Adult onset neurodegenerative disorder v1.8 SERAC1 Louise Daugherty Source London North GLH was added to SERAC1.
Adult onset neurodegenerative disorder v1.8 SEPSECS Louise Daugherty Source London North GLH was added to SEPSECS.
Adult onset neurodegenerative disorder v1.8 SCN8A Louise Daugherty Source London North GLH was added to SCN8A.
Adult onset neurodegenerative disorder v1.8 SCN1A Louise Daugherty Source London North GLH was added to SCN1A.
Adult onset neurodegenerative disorder v1.8 SAR1B Louise Daugherty Source London North GLH was added to SAR1B.
Adult onset neurodegenerative disorder v1.8 SACS Louise Daugherty Source London North GLH was added to SACS.
Adult onset neurodegenerative disorder v1.8 RTN2 Louise Daugherty Source London North GLH was added to RTN2.
Adult onset neurodegenerative disorder v1.8 RNF170 Louise Daugherty Source London North GLH was added to RNF170.
Adult onset neurodegenerative disorder v1.8 REEP2 Louise Daugherty Source London North GLH was added to REEP2.
Adult onset neurodegenerative disorder v1.8 REEP1 Louise Daugherty Source London North GLH was added to REEP1.
Adult onset neurodegenerative disorder v1.8 RARS2 Louise Daugherty Source London North GLH was added to RARS2.
Adult onset neurodegenerative disorder v1.8 RAB39B Louise Daugherty Source London North GLH was added to RAB39B.
Adult onset neurodegenerative disorder v1.8 PRRT2 Louise Daugherty Source London North GLH was added to PRRT2.
Adult onset neurodegenerative disorder v1.8 PRKCG Louise Daugherty Source London North GLH was added to PRKCG.
Adult onset neurodegenerative disorder v1.8 POLR3A Louise Daugherty Source London North GLH was added to POLR3A.
Adult onset neurodegenerative disorder v1.8 POLG Louise Daugherty Source London North GLH was added to POLG.
Adult onset neurodegenerative disorder v1.8 PNPLA6 Louise Daugherty Source London North GLH was added to PNPLA6.
Adult onset neurodegenerative disorder v1.8 PNKP Louise Daugherty Source London North GLH was added to PNKP.
Adult onset neurodegenerative disorder v1.8 PNKD Louise Daugherty Source London North GLH was added to PNKD.
Adult onset neurodegenerative disorder v1.8 PMPCA Louise Daugherty Source London North GLH was added to PMPCA.
Adult onset neurodegenerative disorder v1.8 PLP1 Louise Daugherty Source London North GLH was added to PLP1.
Adult onset neurodegenerative disorder v1.8 PEX16 Louise Daugherty Source London North GLH was added to PEX16.
Adult onset neurodegenerative disorder v1.8 PDYN Louise Daugherty Source London North GLH was added to PDYN.
Adult onset neurodegenerative disorder v1.8 PAX6 Louise Daugherty Source London North GLH was added to PAX6.
Adult onset neurodegenerative disorder v1.8 OPHN1 Louise Daugherty Source London North GLH was added to OPHN1.
Adult onset neurodegenerative disorder v1.8 OPA3 Louise Daugherty Source London North GLH was added to OPA3.
Adult onset neurodegenerative disorder v1.8 NKX6-2 Louise Daugherty Source London North GLH was added to NKX6-2.
Adult onset neurodegenerative disorder v1.8 NIPA1 Louise Daugherty Source London North GLH was added to NIPA1.
Adult onset neurodegenerative disorder v1.8 NEFH Louise Daugherty Source London North GLH was added to NEFH.
Adult onset neurodegenerative disorder v1.8 MVK Louise Daugherty Source London North GLH was added to MVK.
Adult onset neurodegenerative disorder v1.8 MTTP Louise Daugherty Source London North GLH was added to MTTP.
Adult onset neurodegenerative disorder v1.8 MT-ATP6 Louise Daugherty Source London North GLH was added to MT-ATP6.
Adult onset neurodegenerative disorder v1.8 MRE11 Louise Daugherty Source London North GLH was added to MRE11.
Adult onset neurodegenerative disorder v1.8 MMACHC Louise Daugherty Source London North GLH was added to MMACHC.
Adult onset neurodegenerative disorder v1.8 MECR Louise Daugherty Source London North GLH was added to MECR.
Adult onset neurodegenerative disorder v1.8 MARS2 Louise Daugherty Source London North GLH was added to MARS2.
Adult onset neurodegenerative disorder v1.8 MAG Louise Daugherty Source London North GLH was added to MAG.
Adult onset neurodegenerative disorder v1.8 L1CAM Louise Daugherty Source London North GLH was added to L1CAM.
Adult onset neurodegenerative disorder v1.8 KMT2B Louise Daugherty Source London North GLH was added to KMT2B.
Adult onset neurodegenerative disorder v1.8 KIF1C Louise Daugherty Source London North GLH was added to KIF1C.
Adult onset neurodegenerative disorder v1.8 KIF1A Louise Daugherty Source London North GLH was added to KIF1A.
Adult onset neurodegenerative disorder v1.8 KIDINS220 Louise Daugherty Source London North GLH was added to KIDINS220.
Adult onset neurodegenerative disorder v1.8 KDM5C Louise Daugherty Source London North GLH was added to KDM5C.
Adult onset neurodegenerative disorder v1.8 KCNQ3 Louise Daugherty Source London North GLH was added to KCNQ3.
Adult onset neurodegenerative disorder v1.8 KCNQ2 Louise Daugherty Source London North GLH was added to KCNQ2.
Adult onset neurodegenerative disorder v1.8 KCNK18 Louise Daugherty Source London North GLH was added to KCNK18.
Adult onset neurodegenerative disorder v1.8 KCNJ10 Louise Daugherty Source London North GLH was added to KCNJ10.
Adult onset neurodegenerative disorder v1.8 KCNA1 Louise Daugherty Source London North GLH was added to KCNA1.
Adult onset neurodegenerative disorder v1.8 ITPR1 Louise Daugherty Source London North GLH was added to ITPR1.
Adult onset neurodegenerative disorder v1.8 IBA57 Louise Daugherty Source London North GLH was added to IBA57.
Adult onset neurodegenerative disorder v1.8 HSPD1 Louise Daugherty Source London North GLH was added to HSPD1.
Adult onset neurodegenerative disorder v1.8 HPCA Louise Daugherty Source London North GLH was added to HPCA.
Adult onset neurodegenerative disorder v1.8 HACE1 Louise Daugherty Source London North GLH was added to HACE1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v1.8 GRM1 Louise Daugherty Source London North GLH was added to GRM1.
Adult onset neurodegenerative disorder v1.8 GRID2 Louise Daugherty Source London North GLH was added to GRID2.
Adult onset neurodegenerative disorder v1.8 GPAA1 Louise Daugherty Source London North GLH was added to GPAA1.
Adult onset neurodegenerative disorder v1.8 GOSR2 Louise Daugherty Source London North GLH was added to GOSR2.
Adult onset neurodegenerative disorder v1.8 GNAO1 Louise Daugherty Source London North GLH was added to GNAO1.
Adult onset neurodegenerative disorder v1.8 GNAL Louise Daugherty Source London North GLH was added to GNAL.
Adult onset neurodegenerative disorder v1.8 GLRB Louise Daugherty Source London North GLH was added to GLRB.
Adult onset neurodegenerative disorder v1.8 GLRA1 Louise Daugherty Source London North GLH was added to GLRA1.
Adult onset neurodegenerative disorder v1.8 GJC2 Louise Daugherty Source London North GLH was added to GJC2.
Adult onset neurodegenerative disorder v1.8 GCH1 Louise Daugherty Source London North GLH was added to GCH1.
Adult onset neurodegenerative disorder v1.8 FXN Louise Daugherty Source London North GLH was added to FXN.
Adult onset neurodegenerative disorder v1.8 FOLR1 Louise Daugherty Source London North GLH was added to FOLR1.
Adult onset neurodegenerative disorder v1.8 FLVCR1 Louise Daugherty Source London North GLH was added to FLVCR1.
Adult onset neurodegenerative disorder v1.8 FGF14 Louise Daugherty Source London North GLH was added to FGF14.
Adult onset neurodegenerative disorder v1.8 FARS2 Louise Daugherty Source London North GLH was added to FARS2.
Adult onset neurodegenerative disorder v1.8 FA2H Louise Daugherty Source London North GLH was added to FA2H.
Adult onset neurodegenerative disorder v1.8 EXOSC3 Louise Daugherty Source London North GLH was added to EXOSC3.
Adult onset neurodegenerative disorder v1.8 ERLIN2 Louise Daugherty Source London North GLH was added to ERLIN2.
Adult onset neurodegenerative disorder v1.8 DNAJC19 Louise Daugherty Source London North GLH was added to DNAJC19.
Adult onset neurodegenerative disorder v1.8 DMXL2 Louise Daugherty Source London North GLH was added to DMXL2.
Adult onset neurodegenerative disorder v1.8 DDHD2 Louise Daugherty Source London North GLH was added to DDHD2.
Adult onset neurodegenerative disorder v1.8 DDHD1 Louise Daugherty Source London North GLH was added to DDHD1.
Adult onset neurodegenerative disorder v1.8 DCAF17 Louise Daugherty Source London North GLH was added to DCAF17.
Adult onset neurodegenerative disorder v1.8 DARS Louise Daugherty Source London North GLH was added to DARS.
Adult onset neurodegenerative disorder v1.8 CWF19L1 Louise Daugherty Source London North GLH was added to CWF19L1.
Adult onset neurodegenerative disorder v1.8 CSTB Louise Daugherty Source London North GLH was added to CSTB.
Adult onset neurodegenerative disorder v1.8 COX20 Louise Daugherty Source London North GLH was added to COX20.
Adult onset neurodegenerative disorder v1.8 COG5 Louise Daugherty Source London North GLH was added to COG5.
Adult onset neurodegenerative disorder v1.8 CIZ1 Louise Daugherty Source London North GLH was added to CIZ1.
Adult onset neurodegenerative disorder v1.8 CHMP1A Louise Daugherty Source London North GLH was added to CHMP1A.
Adult onset neurodegenerative disorder v1.8 CDK16 Louise Daugherty Source London North GLH was added to CDK16.
Adult onset neurodegenerative disorder v1.8 CASK Louise Daugherty Source London North GLH was added to CASK.
Adult onset neurodegenerative disorder v1.8 CAMTA1 Louise Daugherty Source London North GLH was added to CAMTA1.
Adult onset neurodegenerative disorder v1.8 CACNB4 Louise Daugherty Source London North GLH was added to CACNB4.
Adult onset neurodegenerative disorder v1.8 CACNA1A Louise Daugherty Source London North GLH was added to CACNA1A.
Adult onset neurodegenerative disorder v1.8 CA8 Louise Daugherty Source London North GLH was added to CA8.
Adult onset neurodegenerative disorder v1.8 C12orf65 Louise Daugherty Source London North GLH was added to C12orf65.
Adult onset neurodegenerative disorder v1.8 BSCL2 Louise Daugherty Source London North GLH was added to BSCL2.
Adult onset neurodegenerative disorder v1.8 B4GALNT1 Louise Daugherty Source London North GLH was added to B4GALNT1.
Adult onset neurodegenerative disorder v1.8 ATP7B Louise Daugherty Source London North GLH was added to ATP7B.
Adult onset neurodegenerative disorder v1.8 ATP1A2 Louise Daugherty Source London North GLH was added to ATP1A2.
Adult onset neurodegenerative disorder v1.8 ATM Louise Daugherty Source London North GLH was added to ATM.
Adult onset neurodegenerative disorder v1.8 ATL1 Louise Daugherty Source London North GLH was added to ATL1.
Adult onset neurodegenerative disorder v1.8 ATCAY Louise Daugherty Source London North GLH was added to ATCAY.
Adult onset neurodegenerative disorder v1.8 ARG1 Louise Daugherty Source London North GLH was added to ARG1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v1.8 APTX Louise Daugherty Source London North GLH was added to APTX.
Adult onset neurodegenerative disorder v1.8 AP4S1 Louise Daugherty Source London North GLH was added to AP4S1.
Adult onset neurodegenerative disorder v1.8 AP4M1 Louise Daugherty Source London North GLH was added to AP4M1.
Adult onset neurodegenerative disorder v1.8 AP4E1 Louise Daugherty Source London North GLH was added to AP4E1.
Adult onset neurodegenerative disorder v1.8 AP4B1 Louise Daugherty Source London North GLH was added to AP4B1.
Adult onset neurodegenerative disorder v1.8 AP1S2 Louise Daugherty Source London North GLH was added to AP1S2.
Adult onset neurodegenerative disorder v1.8 ANO3 Louise Daugherty Source London North GLH was added to ANO3.
Adult onset neurodegenerative disorder v1.8 ANO10 Louise Daugherty Source London North GLH was added to ANO10.
Adult onset neurodegenerative disorder v1.8 AMPD2 Louise Daugherty Source London North GLH was added to AMPD2.
Adult onset neurodegenerative disorder v1.8 ALDH18A1 Louise Daugherty Source London North GLH was added to ALDH18A1.
Adult onset neurodegenerative disorder v1.8 AIMP1 Louise Daugherty Source London North GLH was added to AIMP1.
Adult onset neurodegenerative disorder v1.8 ADCY5 Louise Daugherty Source London North GLH was added to ADCY5.
Adult onset neurodegenerative disorder v1.8 ADAR Louise Daugherty Source London North GLH was added to ADAR.
Adult onset neurodegenerative disorder v1.8 ABHD12 Louise Daugherty Source London North GLH was added to ABHD12.
Adult onset neurodegenerative disorder v1.8 ABCB7 Louise Daugherty Source London North GLH was added to ABCB7.
Adult onset neurodegenerative disorder v1.8 AAAS Louise Daugherty Source London North GLH was added to AAAS.
Adult onset neurodegenerative disorder v1.8 CHCHD10 Louise Daugherty Source London North GLH was added to CHCHD10.
Adult onset neurodegenerative disorder v1.8 XPR1 Louise Daugherty gene: XPR1 was added
gene: XPR1 was added to Neurodegenerative disorders - adult onset. Sources: London North GLH
Mode of inheritance for gene: XPR1 was set to
Adult onset neurodegenerative disorder v1.8 WDR45 Louise Daugherty Source London North GLH was added to WDR45.
Adult onset neurodegenerative disorder v1.8 VPS35 Louise Daugherty Source London North GLH was added to VPS35.
Adult onset neurodegenerative disorder v1.8 VPS13A Louise Daugherty Source London North GLH was added to VPS13A.
Adult onset neurodegenerative disorder v1.8 VCP Louise Daugherty Source London North GLH was added to VCP.
Adult onset neurodegenerative disorder v1.8 VAPB Louise Daugherty Source London North GLH was added to VAPB.
Adult onset neurodegenerative disorder v1.8 UBQLN2 Louise Daugherty Source London North GLH was added to UBQLN2.
Adult onset neurodegenerative disorder v1.8 TYROBP Louise Daugherty Source London North GLH was added to TYROBP.
Adult onset neurodegenerative disorder v1.8 TUBB4A Louise Daugherty Source London North GLH was added to TUBB4A.
Adult onset neurodegenerative disorder v1.8 TTC19 Louise Daugherty Source London North GLH was added to TTC19.
Adult onset neurodegenerative disorder v1.8 TREM2 Louise Daugherty Source London North GLH was added to TREM2.
Adult onset neurodegenerative disorder v1.8 TMEM240 Louise Daugherty Source London North GLH was added to TMEM240.
Adult onset neurodegenerative disorder v1.8 TBK1 Louise Daugherty Source London North GLH was added to TBK1.
Adult onset neurodegenerative disorder v1.8 TARDBP Louise Daugherty Source London North GLH was added to TARDBP.
Adult onset neurodegenerative disorder v1.8 TAF1 Louise Daugherty Source London North GLH was added to TAF1.
Adult onset neurodegenerative disorder v1.8 SYNJ1 Louise Daugherty Source London North GLH was added to SYNJ1.
Adult onset neurodegenerative disorder v1.8 SQSTM1 Louise Daugherty gene: SQSTM1 was added
gene: SQSTM1 was added to Neurodegenerative disorders - adult onset. Sources: London North GLH
Mode of inheritance for gene: SQSTM1 was set to
Adult onset neurodegenerative disorder v1.8 SPG21 Louise Daugherty Source London North GLH was added to SPG21.
Adult onset neurodegenerative disorder v1.8 SPG11 Louise Daugherty Source London North GLH was added to SPG11.
Adult onset neurodegenerative disorder v1.8 SPAST Louise Daugherty Source London North GLH was added to SPAST.
Adult onset neurodegenerative disorder v1.8 SOD1 Louise Daugherty Source London North GLH was added to SOD1.
Adult onset neurodegenerative disorder v1.8 SNCA Louise Daugherty Source London North GLH was added to SNCA.
Adult onset neurodegenerative disorder v1.8 SLC6A3 Louise Daugherty Source London North GLH was added to SLC6A3.
Adult onset neurodegenerative disorder v1.8 SLC30A10 Louise Daugherty Source London North GLH was added to SLC30A10.
Adult onset neurodegenerative disorder v1.8 SLC20A2 Louise Daugherty Source London North GLH was added to SLC20A2.
Adult onset neurodegenerative disorder v1.8 SIGMAR1 Louise Daugherty Source London North GLH was added to SIGMAR1.
Adult onset neurodegenerative disorder v1.8 SGCE Louise Daugherty Source London North GLH was added to SGCE.
Adult onset neurodegenerative disorder v1.8 SETX Louise Daugherty Source London North GLH was added to SETX.
Adult onset neurodegenerative disorder v1.8 RNF216 Louise Daugherty Source London North GLH was added to RNF216.
Adult onset neurodegenerative disorder v1.8 PSEN2 Louise Daugherty Source London North GLH was added to PSEN2.
Adult onset neurodegenerative disorder v1.8 PSEN1 Louise Daugherty Source London North GLH was added to PSEN1.
Adult onset neurodegenerative disorder v1.8 PRNP Louise Daugherty Source London North GLH was added to PRNP.
Adult onset neurodegenerative disorder v1.8 PRKRA Louise Daugherty Source London North GLH was added to PRKRA.
Adult onset neurodegenerative disorder v1.8 PRKN Louise Daugherty Source London North GLH was added to PRKN.
Adult onset neurodegenerative disorder v1.8 PLA2G6 Louise Daugherty Source London North GLH was added to PLA2G6.
Adult onset neurodegenerative disorder v1.8 PINK1 Louise Daugherty Source London North GLH was added to PINK1.
Adult onset neurodegenerative disorder v1.8 PFN1 Louise Daugherty Source London North GLH was added to PFN1.
Adult onset neurodegenerative disorder v1.8 PDGFRB Louise Daugherty Source London North GLH was added to PDGFRB.
Adult onset neurodegenerative disorder v1.8 PDGFB Louise Daugherty gene: PDGFB was added
gene: PDGFB was added to Neurodegenerative disorders - adult onset. Sources: London North GLH
Mode of inheritance for gene: PDGFB was set to
Adult onset neurodegenerative disorder v1.8 PARK7 Louise Daugherty Source London North GLH was added to PARK7.
Adult onset neurodegenerative disorder v1.8 PANK2 Louise Daugherty Source London North GLH was added to PANK2.
Adult onset neurodegenerative disorder v1.8 OPTN Louise Daugherty Source London North GLH was added to OPTN.
Adult onset neurodegenerative disorder v1.8 NPC2 Louise Daugherty Source London North GLH was added to NPC2.
Adult onset neurodegenerative disorder v1.8 NPC1 Louise Daugherty Source London North GLH was added to NPC1.
Adult onset neurodegenerative disorder v1.8 NOTCH3 Louise Daugherty Source London North GLH was added to NOTCH3.
Adult onset neurodegenerative disorder v1.8 NHLRC1 Louise Daugherty Source London North GLH was added to NHLRC1.
Adult onset neurodegenerative disorder v1.8 KIAA1161 Louise Daugherty gene: KIAA1161 was added
gene: KIAA1161 was added to Neurodegenerative disorders - adult onset. Sources: London North GLH
Mode of inheritance for gene: KIAA1161 was set to
Adult onset neurodegenerative disorder v1.8 MAPT Louise Daugherty Source London North GLH was added to MAPT.
Adult onset neurodegenerative disorder v1.8 LYST Louise Daugherty Source London North GLH was added to LYST.
Adult onset neurodegenerative disorder v1.8 LRRK2 Louise Daugherty Source London North GLH was added to LRRK2.
Adult onset neurodegenerative disorder v1.8 KIF5A Louise Daugherty Source London North GLH was added to KIF5A.
Adult onset neurodegenerative disorder v1.8 KCND3 Louise Daugherty Source London North GLH was added to KCND3.
Adult onset neurodegenerative disorder v1.8 KCNC3 Louise Daugherty Source London North GLH was added to KCNC3.
Adult onset neurodegenerative disorder v1.8 ITM2B Louise Daugherty Source London North GLH was added to ITM2B.
Adult onset neurodegenerative disorder v1.8 HTRA2 Louise Daugherty Source London North GLH was added to HTRA2.
Adult onset neurodegenerative disorder v1.8 HTRA1 Louise Daugherty Source London North GLH was added to HTRA1.
Adult onset neurodegenerative disorder v1.8 HNRNPA1 Louise Daugherty Source London North GLH was added to HNRNPA1.
Adult onset neurodegenerative disorder v1.8 HEXB Louise Daugherty Source London North GLH was added to HEXB.
Adult onset neurodegenerative disorder v1.8 HEXA Louise Daugherty Source London North GLH was added to HEXA.
Adult onset neurodegenerative disorder v1.8 GRN Louise Daugherty Source London North GLH was added to GRN.
Adult onset neurodegenerative disorder v1.8 GFAP Louise Daugherty Source London North GLH was added to GFAP.
Adult onset neurodegenerative disorder v1.8 GBA2 Louise Daugherty Source London North GLH was added to GBA2.
Adult onset neurodegenerative disorder v1.8 GBA Louise Daugherty Source London North GLH was added to GBA.
Adult onset neurodegenerative disorder v1.8 FUS Louise Daugherty Source London North GLH was added to FUS.
Adult onset neurodegenerative disorder v1.8 FTL Louise Daugherty Source London North GLH was added to FTL.
Adult onset neurodegenerative disorder v1.8 FMR1 Louise Daugherty Source London North GLH was added to FMR1.
Adult onset neurodegenerative disorder v1.8 FIG4 Louise Daugherty Source London North GLH was added to FIG4.
Adult onset neurodegenerative disorder v1.8 FBXO7 Louise Daugherty Source London North GLH was added to FBXO7.
Adult onset neurodegenerative disorder v1.8 EPM2A Louise Daugherty Source London North GLH was added to EPM2A.
Adult onset neurodegenerative disorder v1.8 ELOVL4 Louise Daugherty Source London North GLH was added to ELOVL4.
Adult onset neurodegenerative disorder v1.8 EIF2B5 Louise Daugherty Source London North GLH was added to EIF2B5.
Adult onset neurodegenerative disorder v1.8 EIF2B4 Louise Daugherty Source London North GLH was added to EIF2B4.
Adult onset neurodegenerative disorder v1.8 EIF2B3 Louise Daugherty Source London North GLH was added to EIF2B3.
Adult onset neurodegenerative disorder v1.8 EIF2B2 Louise Daugherty Source London North GLH was added to EIF2B2.
Adult onset neurodegenerative disorder v1.8 EIF2B1 Louise Daugherty Source London North GLH was added to EIF2B1.
Adult onset neurodegenerative disorder v1.8 DNMT1 Louise Daugherty Source London North GLH was added to DNMT1.
Adult onset neurodegenerative disorder v1.8 DNAJC6 Louise Daugherty Source London North GLH was added to DNAJC6.
Adult onset neurodegenerative disorder v1.8 DNAJC5 Louise Daugherty Source London North GLH was added to DNAJC5.
Adult onset neurodegenerative disorder v1.8 DCTN1 Louise Daugherty Source London North GLH was added to DCTN1.
Adult onset neurodegenerative disorder v1.8 DARS2 Louise Daugherty Source London North GLH was added to DARS2.
Adult onset neurodegenerative disorder v1.8 CYP7B1 Louise Daugherty Source London North GLH was added to CYP7B1.
Adult onset neurodegenerative disorder v1.8 CYP2U1 Louise Daugherty Source London North GLH was added to CYP2U1.
Adult onset neurodegenerative disorder v1.8 CYP27A1 Louise Daugherty Source London North GLH was added to CYP27A1.
Adult onset neurodegenerative disorder v1.8 CSF1R Louise Daugherty Source London North GLH was added to CSF1R.
Adult onset neurodegenerative disorder v1.8 CP Louise Daugherty Source London North GLH was added to CP.
Adult onset neurodegenerative disorder v1.8 COQ8A Louise Daugherty Source London North GLH was added to COQ8A.
Adult onset neurodegenerative disorder v1.8 COASY Louise Daugherty Source London North GLH was added to COASY.
Adult onset neurodegenerative disorder v1.8 CLN6 Louise Daugherty Source London North GLH was added to CLN6.
Adult onset neurodegenerative disorder v1.8 CLCN2 Louise Daugherty Source London North GLH was added to CLCN2.
Adult onset neurodegenerative disorder v1.8 CHMP2B Louise Daugherty Source London North GLH was added to CHMP2B.
Adult onset neurodegenerative disorder v1.8 CHCHD2 Louise Daugherty Source London North GLH was added to CHCHD2.
Adult onset neurodegenerative disorder v1.8 CCNF Louise Daugherty gene: CCNF was added
gene: CCNF was added to Neurodegenerative disorders - adult onset. Sources: London North GLH
Mode of inheritance for gene: CCNF was set to
Adult onset neurodegenerative disorder v1.8 CAPN1 Louise Daugherty Source London North GLH was added to CAPN1.
Adult onset neurodegenerative disorder v1.8 CACNA1G Louise Daugherty Source London North GLH was added to CACNA1G.
Adult onset neurodegenerative disorder v1.8 C19orf12 Louise Daugherty Source London North GLH was added to C19orf12.
Adult onset neurodegenerative disorder v1.8 ATXN7 Louise Daugherty Source London North GLH was added to ATXN7.
Adult onset neurodegenerative disorder v1.8 ATP1A3 Louise Daugherty Source London North GLH was added to ATP1A3.
Adult onset neurodegenerative disorder v1.8 ATP13A2 Louise Daugherty Source London North GLH was added to ATP13A2.
Adult onset neurodegenerative disorder v1.8 ARSA Louise Daugherty Source London North GLH was added to ARSA.
Adult onset neurodegenerative disorder v1.8 APP Louise Daugherty Source London North GLH was added to APP.
Adult onset neurodegenerative disorder v1.8 ANG Louise Daugherty Source London North GLH was added to ANG.
Adult onset neurodegenerative disorder v1.8 ALS2 Louise Daugherty Source London North GLH was added to ALS2.
Adult onset neurodegenerative disorder v1.8 AFG3L2 Louise Daugherty Source London North GLH was added to AFG3L2.
Adult onset neurodegenerative disorder v1.8 ABCD1 Louise Daugherty Source London North GLH was added to ABCD1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Adult onset neurodegenerative disorder v1.7 VAMP1 Louise Daugherty reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 REEP2 Louise Daugherty reviewed gene: REEP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 NEFH Louise Daugherty reviewed gene: NEFH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 MVK Louise Daugherty reviewed gene: MVK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 MR1 Louise Daugherty reviewed gene: MR1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 MAG Louise Daugherty reviewed gene: MAG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 KDM5C Louise Daugherty reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 KCNK18 Louise Daugherty reviewed gene: KCNK18: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 IPPK Louise Daugherty reviewed gene: IPPK: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 IBA57 Louise Daugherty reviewed gene: IBA57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 GNAL Louise Daugherty reviewed gene: GNAL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 GCH1 Louise Daugherty reviewed gene: GCH1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 DRD2 Louise Daugherty reviewed gene: DRD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 DMXL2 Louise Daugherty reviewed gene: DMXL2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 DLAT Louise Daugherty reviewed gene: DLAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 DDC Louise Daugherty reviewed gene: DDC: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 DARS Louise Daugherty reviewed gene: DARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 DAB1 Louise Daugherty reviewed gene: DAB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 COG5 Louise Daugherty reviewed gene: COG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 CLP1 Louise Daugherty reviewed gene: CLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 CIZ1 Louise Daugherty reviewed gene: CIZ1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 CHCHD2 Louise Daugherty reviewed gene: CHCHD2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 CHCHD10 Louise Daugherty reviewed gene: CHCHD10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 CDK16 Louise Daugherty reviewed gene: CDK16: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 CCT5 Louise Daugherty reviewed gene: CCT5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 CCDC88C Louise Daugherty reviewed gene: CCDC88C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 C9orf72 Louise Daugherty reviewed gene: C9orf72: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 BCAP31 Louise Daugherty reviewed gene: BCAP31: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 AUH Louise Daugherty reviewed gene: AUH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ATXN8 Louise Daugherty reviewed gene: ATXN8: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ATXN7 Louise Daugherty reviewed gene: ATXN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ATXN3 Louise Daugherty reviewed gene: ATXN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ATXN2 Louise Daugherty reviewed gene: ATXN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ATXN10 Louise Daugherty reviewed gene: ATXN10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ATXN1 Louise Daugherty reviewed gene: ATXN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ATP8A2 Louise Daugherty reviewed gene: ATP8A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ATP6AP2 Louise Daugherty reviewed gene: ATP6AP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ATP2B3 Louise Daugherty reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ATN1 Louise Daugherty reviewed gene: ATN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ARX Louise Daugherty reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ARSI Louise Daugherty reviewed gene: ARSI: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ARL6IP1 Louise Daugherty reviewed gene: ARL6IP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 AP5Z1 Louise Daugherty reviewed gene: AP5Z1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ALAS2 Louise Daugherty reviewed gene: ALAS2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 ACTB Louise Daugherty reviewed gene: ACTB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.7 AARS Louise Daugherty reviewed gene: AARS: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Adult onset neurodegenerative disorder v1.6 VAMP1 Anthony Dallosso reviewed gene: VAMP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia 1, autosomal dominant, 108600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.6 REEP2 Anthony Dallosso reviewed gene: REEP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 72, autosomal recessive, 615625, ?Spastic paraplegia 72, autosomal dominant,615625; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.6 NEFH Anthony Dallosso reviewed gene: NEFH: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: susceptibility to amyotrophic lateral sclerosis (ALS); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.6 MVK Anthony Dallosso reviewed gene: MVK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Mevalonic aciduria, 610377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.6 MR1 Anthony Dallosso reviewed gene: MR1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, Paroxysmal/Episodic dystonia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.6 MAG Anthony Dallosso reviewed gene: MAG: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 75, autosomal recessive, 616680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.6 KDM5C Anthony Dallosso reviewed gene: KDM5C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534, Intellectual disability, developmental delay, progressive spasticity, epilepsy, hypothyroidism; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.6 KCNK18 Anthony Dallosso reviewed gene: KCNK18: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.6 IPPK Anthony Dallosso reviewed gene: IPPK: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Early Onset Complex Disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.6 IBA57 Anthony Dallosso reviewed gene: IBA57: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Spastic paraplegia 74, autosomal recessive, 616451; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.6 GNAL Anthony Dallosso reviewed gene: GNAL: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: adult-onset cranio-cervical dystonia, Dystonia 25, 615073; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.6 GCH1 Anthony Dallosso reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dopa-Responsive Dystonia (DRD), progressive spastic paraplegia, Dystonia, Hyperphenylalaninemia, BH4-deficient, B, 233910, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230, Spastic paraplegia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.6 DRD2 Anthony Dallosso reviewed gene: DRD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, myoclonic, 159900; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.6 DMXL2 Anthony Dallosso reviewed gene: DMXL2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Sensorineural Hearing Loss, 612186; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.6 DLAT Anthony Dallosso reviewed gene: DLAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.6 DDC Anthony Dallosso reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.6 DARS Anthony Dallosso reviewed gene: DARS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Brain stem and spinal cord Hypomyelination, leg spasticity, Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.6 DAB1 Anthony Dallosso reviewed gene: DAB1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 37, 615945; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.6 COG5 Anthony Dallosso reviewed gene: COG5: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Iii, 613612; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.6 CLP1 Anthony Dallosso reviewed gene: CLP1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Pontocerebellar hypoplasia 10, 615803); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.6 CIZ1 Anthony Dallosso reviewed gene: CIZ1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia 23, 614860; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.6 CHCHD2 Anthony Dallosso reviewed gene: CHCHD2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Parkinson disease 22, autosomal dominant, 616710; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.6 CHCHD10 Anthony Dallosso reviewed gene: CHCHD10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Myopathy, isolated mitochondrial, autosomal dominant, 616209; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.6 CDK16 Anthony Dallosso reviewed gene: CDK16: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Intellectual disability and spastic paraplegia; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.6 CCT5 Anthony Dallosso reviewed gene: CCT5: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Neuropathy, hereditary sensory, with spastic paraplegia, Sensory Neuropathy with Spastic Paraplegia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.6 CCDC88C Anthony Dallosso reviewed gene: CCDC88C: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: autosomal dominant spinocerebellar ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.6 C9orf72 Anthony Dallosso reviewed gene: C9orf72: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Complex parkinsonism, Amyotrophic Lateral Sclerosis/Frontotemporal Dementia, Amyotrophic lateral sclerosis and/or frontotemporal dementia, 105550 -3, clinical presentation suggestive of cortico-basal/PSP syndrome, (Hexanucleotideexpansion), Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis, Clinical syndrome FTLD (Frontotemporal lobar degeneration), Frontotemporal Dementia, Amyotrophic Lateral Sclerosis, Hexanucleotide repeat expansion, amyotrophic lateral sclerosis, frontotemporal dementia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.6 BCAP31 Anthony Dallosso reviewed gene: BCAP31: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Deafness, dystonia and cerebellar hypomyelination, 300475; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.6 AUH Anthony Dallosso reviewed gene: AUH: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.6 ATXN8 Anthony Dallosso reviewed gene: ATXN8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 8 608768; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.6 ATXN7 Anthony Dallosso reviewed gene: ATXN7: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia 7,164500; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.6 ATXN3 Anthony Dallosso reviewed gene: ATXN3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: familial parkinsonism, (CAGexpansion); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.6 ATXN2 Anthony Dallosso reviewed gene: ATXN2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia 2, 183090, familial parkinsonism, {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090, Spinocerebellarataxia2,183090{Amyotrophiclateralsclerosis,susceptibilityto,13},183090, (CAGexpansion); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v1.6 ATXN10 Anthony Dallosso reviewed gene: ATXN10: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia10, 603516; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.6 ATXN1 Anthony Dallosso reviewed gene: ATXN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellarataxia1, 164400; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.6 ATP8A2 Anthony Dallosso reviewed gene: ATP8A2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.6 ATP6AP2 Anthony Dallosso reviewed gene: ATP6AP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Parkinsonism with spasticity, X-linked 300911, Mental retardation, X-linked, syndromic, Hedera type 300423; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females
Adult onset neurodegenerative disorder v1.6 ATP2B3 Anthony Dallosso reviewed gene: ATP2B3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Spinocerebellar ataxia, X-linked 1; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.6 ATN1 Anthony Dallosso reviewed gene: ATN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dentatorubro-pallidoluysian atrophy 125370; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Adult onset neurodegenerative disorder v1.6 ARX Anthony Dallosso reviewed gene: ARX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.6 ARSI Anthony Dallosso reviewed gene: ARSI: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.6 ARL6IP1 Anthony Dallosso reviewed gene: ARL6IP1: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.6 AP5Z1 Anthony Dallosso reviewed gene: AP5Z1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic Paraplegia, Recessive, Spastic paraplegia 48, autosomal recessive; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.6 ALAS2 Anthony Dallosso reviewed gene: ALAS2: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Adult onset neurodegenerative disorder v1.6 ACTB Anthony Dallosso reviewed gene: ACTB: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310; Mode of inheritance: Unknown
Adult onset neurodegenerative disorder v1.6 AARS Anthony Dallosso reviewed gene: AARS: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes
Adult onset neurodegenerative disorder v1.5 VAMP1 Louise Daugherty Source NHS GMS was added to VAMP1.
Adult onset neurodegenerative disorder v1.5 REEP2 Louise Daugherty Source NHS GMS was added to REEP2.
Adult onset neurodegenerative disorder v1.5 NEFH Louise Daugherty Source NHS GMS was added to NEFH.
Adult onset neurodegenerative disorder v1.5 MVK Louise Daugherty Source NHS GMS was added to MVK.
Adult onset neurodegenerative disorder v1.5 MR1 Louise Daugherty Source NHS GMS was added to MR1.
Adult onset neurodegenerative disorder v1.5 MAG Louise Daugherty Source NHS GMS was added to MAG.
Adult onset neurodegenerative disorder v1.5 KDM5C Louise Daugherty Source NHS GMS was added to KDM5C.
Adult onset neurodegenerative disorder v1.5 KCNK18 Louise Daugherty Source NHS GMS was added to KCNK18.
Adult onset neurodegenerative disorder v1.5 IPPK Louise Daugherty Source NHS GMS was added to IPPK.
Adult onset neurodegenerative disorder v1.5 IBA57 Louise Daugherty Source NHS GMS was added to IBA57.
Adult onset neurodegenerative disorder v1.5 GNAL Louise Daugherty Source NHS GMS was added to GNAL.
Adult onset neurodegenerative disorder v1.5 GCH1 Louise Daugherty Source NHS GMS was added to GCH1.
Adult onset neurodegenerative disorder v1.5 DRD2 Louise Daugherty Source NHS GMS was added to DRD2.
Adult onset neurodegenerative disorder v1.5 DMXL2 Louise Daugherty Source NHS GMS was added to DMXL2.
Adult onset neurodegenerative disorder v1.5 DLAT Louise Daugherty Source NHS GMS was added to DLAT.
Adult onset neurodegenerative disorder v1.5 DDC Louise Daugherty Source NHS GMS was added to DDC.
Adult onset neurodegenerative disorder v1.5 DARS Louise Daugherty Source NHS GMS was added to DARS.
Adult onset neurodegenerative disorder v1.5 DAB1 Louise Daugherty Source NHS GMS was added to DAB1.
Adult onset neurodegenerative disorder v1.5 COG5 Louise Daugherty Source NHS GMS was added to COG5.
Adult onset neurodegenerative disorder v1.5 CLP1 Louise Daugherty Source NHS GMS was added to CLP1.
Adult onset neurodegenerative disorder v1.5 CIZ1 Louise Daugherty Source NHS GMS was added to CIZ1.
Adult onset neurodegenerative disorder v1.5 CHCHD2 Louise Daugherty Source NHS GMS was added to CHCHD2.
Adult onset neurodegenerative disorder v1.5 CHCHD10 Louise Daugherty Source NHS GMS was added to CHCHD10.
Adult onset neurodegenerative disorder v1.5 CDK16 Louise Daugherty Source NHS GMS was added to CDK16.
Adult onset neurodegenerative disorder v1.5 CCT5 Louise Daugherty Source NHS GMS was added to CCT5.
Adult onset neurodegenerative disorder v1.5 CCDC88C Louise Daugherty Source NHS GMS was added to CCDC88C.
Adult onset neurodegenerative disorder v1.5 C9orf72 Louise Daugherty Source NHS GMS was added to C9orf72.
Adult onset neurodegenerative disorder v1.5 BCAP31 Louise Daugherty Source NHS GMS was added to BCAP31.
Adult onset neurodegenerative disorder v1.5 AUH Louise Daugherty Source NHS GMS was added to AUH.
Adult onset neurodegenerative disorder v1.5 ATXN8 Louise Daugherty Source NHS GMS was added to ATXN8.
Adult onset neurodegenerative disorder v1.5 ATXN7 Louise Daugherty Source NHS GMS was added to ATXN7.
Adult onset neurodegenerative disorder v1.5 ATXN3 Louise Daugherty Source NHS GMS was added to ATXN3.
Adult onset neurodegenerative disorder v1.5 ATXN2 Louise Daugherty Source NHS GMS was added to ATXN2.
Adult onset neurodegenerative disorder v1.5 ATXN10 Louise Daugherty Source NHS GMS was added to ATXN10.
Adult onset neurodegenerative disorder v1.5 ATXN1 Louise Daugherty Source NHS GMS was added to ATXN1.
Adult onset neurodegenerative disorder v1.5 ATP8A2 Louise Daugherty Source NHS GMS was added to ATP8A2.
Adult onset neurodegenerative disorder v1.5 ATP6AP2 Louise Daugherty Source NHS GMS was added to ATP6AP2.
Adult onset neurodegenerative disorder v1.5 ATP2B3 Louise Daugherty Source NHS GMS was added to ATP2B3.
Adult onset neurodegenerative disorder v1.5 ATN1 Louise Daugherty Source NHS GMS was added to ATN1.
Adult onset neurodegenerative disorder v1.5 ARX Louise Daugherty Source NHS GMS was added to ARX.
Adult onset neurodegenerative disorder v1.5 ARSI Louise Daugherty Source NHS GMS was added to ARSI.
Adult onset neurodegenerative disorder v1.5 ARL6IP1 Louise Daugherty Source NHS GMS was added to ARL6IP1.
Adult onset neurodegenerative disorder v1.5 AP5Z1 Louise Daugherty Source NHS GMS was added to AP5Z1.
Adult onset neurodegenerative disorder v1.5 ALAS2 Louise Daugherty Source NHS GMS was added to ALAS2.
Adult onset neurodegenerative disorder v1.5 ACTB Louise Daugherty Source NHS GMS was added to ACTB.
Adult onset neurodegenerative disorder v1.5 AARS Louise Daugherty Source NHS GMS was added to AARS.
Adult onset neurodegenerative disorder v1.4 VAMP1 Louise Daugherty Source South West GLH was added to VAMP1.
Adult onset neurodegenerative disorder v1.4 REEP2 Louise Daugherty Source South West GLH was added to REEP2.
Adult onset neurodegenerative disorder v1.4 NEFH Louise Daugherty Source South West GLH was added to NEFH.
Adult onset neurodegenerative disorder v1.4 MVK Louise Daugherty Source South West GLH was added to MVK.
Adult onset neurodegenerative disorder v1.4 MR1 Louise Daugherty Source South West GLH was added to MR1.
Adult onset neurodegenerative disorder v1.4 MAG Louise Daugherty Source South West GLH was added to MAG.
Adult onset neurodegenerative disorder v1.4 KDM5C Louise Daugherty Source South West GLH was added to KDM5C.
Adult onset neurodegenerative disorder v1.4 KCNK18 Louise Daugherty Source South West GLH was added to KCNK18.
Adult onset neurodegenerative disorder v1.4 IPPK Louise Daugherty Source South West GLH was added to IPPK.
Adult onset neurodegenerative disorder v1.4 IBA57 Louise Daugherty Source South West GLH was added to IBA57.
Adult onset neurodegenerative disorder v1.4 GNAL Louise Daugherty Source South West GLH was added to GNAL.
Adult onset neurodegenerative disorder v1.4 GCH1 Louise Daugherty Source South West GLH was added to GCH1.
Adult onset neurodegenerative disorder v1.4 DRD2 Louise Daugherty Source South West GLH was added to DRD2.
Adult onset neurodegenerative disorder v1.4 DMXL2 Louise Daugherty Source South West GLH was added to DMXL2.
Adult onset neurodegenerative disorder v1.4 DLAT Louise Daugherty Source South West GLH was added to DLAT.
Adult onset neurodegenerative disorder v1.4 DDC Louise Daugherty Source South West GLH was added to DDC.
Adult onset neurodegenerative disorder v1.4 DARS Louise Daugherty Source South West GLH was added to DARS.
Adult onset neurodegenerative disorder v1.4 DAB1 Louise Daugherty Source South West GLH was added to DAB1.
Adult onset neurodegenerative disorder v1.4 COG5 Louise Daugherty Source South West GLH was added to COG5.
Adult onset neurodegenerative disorder v1.4 CLP1 Louise Daugherty Source South West GLH was added to CLP1.
Adult onset neurodegenerative disorder v1.4 CIZ1 Louise Daugherty Source South West GLH was added to CIZ1.
Adult onset neurodegenerative disorder v1.4 CHCHD2 Louise Daugherty Source South West GLH was added to CHCHD2.
Adult onset neurodegenerative disorder v1.4 CHCHD10 Louise Daugherty Source South West GLH was added to CHCHD10.
Adult onset neurodegenerative disorder v1.4 CDK16 Louise Daugherty Source South West GLH was added to CDK16.
Adult onset neurodegenerative disorder v1.4 CCT5 Louise Daugherty Source South West GLH was added to CCT5.
Adult onset neurodegenerative disorder v1.4 CCDC88C Louise Daugherty Source South West GLH was added to CCDC88C.
Adult onset neurodegenerative disorder v1.4 C9orf72 Louise Daugherty Source South West GLH was added to C9orf72.
Adult onset neurodegenerative disorder v1.4 BCAP31 Louise Daugherty Source South West GLH was added to BCAP31.
Adult onset neurodegenerative disorder v1.4 AUH Louise Daugherty Source South West GLH was added to AUH.
Adult onset neurodegenerative disorder v1.4 ATXN8 Louise Daugherty Source South West GLH was added to ATXN8.
Adult onset neurodegenerative disorder v1.4 ATXN7 Louise Daugherty Source South West GLH was added to ATXN7.
Adult onset neurodegenerative disorder v1.4 ATXN3 Louise Daugherty Source South West GLH was added to ATXN3.
Adult onset neurodegenerative disorder v1.4 ATXN2 Louise Daugherty Source South West GLH was added to ATXN2.
Adult onset neurodegenerative disorder v1.4 ATXN10 Louise Daugherty Source South West GLH was added to ATXN10.
Adult onset neurodegenerative disorder v1.4 ATXN1 Louise Daugherty Source South West GLH was added to ATXN1.
Adult onset neurodegenerative disorder v1.4 ATP8A2 Louise Daugherty Source South West GLH was added to ATP8A2.
Adult onset neurodegenerative disorder v1.4 ATP6AP2 Louise Daugherty Source South West GLH was added to ATP6AP2.
Adult onset neurodegenerative disorder v1.4 ATP2B3 Louise Daugherty Source South West GLH was added to ATP2B3.
Adult onset neurodegenerative disorder v1.4 ATN1 Louise Daugherty Source South West GLH was added to ATN1.
Adult onset neurodegenerative disorder v1.4 ARX Louise Daugherty Source South West GLH was added to ARX.
Adult onset neurodegenerative disorder v1.4 ARSI Louise Daugherty Source South West GLH was added to ARSI.
Adult onset neurodegenerative disorder v1.4 ARL6IP1 Louise Daugherty Source South West GLH was added to ARL6IP1.
Adult onset neurodegenerative disorder v1.4 AP5Z1 Louise Daugherty Source South West GLH was added to AP5Z1.
Adult onset neurodegenerative disorder v1.4 ALAS2 Louise Daugherty Source South West GLH was added to ALAS2.
Adult onset neurodegenerative disorder v1.4 ACTB Louise Daugherty Source South West GLH was added to ACTB.
Adult onset neurodegenerative disorder v1.4 AARS Louise Daugherty Source South West GLH was added to AARS.
Adult onset neurodegenerative disorder v1.3 NT5C2 Rebecca Foulger Classified gene: NT5C2 as Green List (high evidence)
Adult onset neurodegenerative disorder 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'.
Adult onset neurodegenerative disorder v1.3 NT5C2 Rebecca Foulger Gene: nt5c2 has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v1.2 NT5C2 Rebecca Foulger Phenotypes for gene: NT5C2 were changed from Spasticparaplegia45, autosomal recessive 613162 to Spastic paraplegia 45, autosomal recessive, 613162
Adult onset neurodegenerative disorder v1.1 RAB3GAP2 Rebecca Foulger Added comment: Comment on mode of inheritance: Changed MOI from 'monoallelic' to 'biallelic' to match PMID:24482476 and OMIM.
Adult onset neurodegenerative disorder v1.1 RAB3GAP2 Rebecca Foulger Mode of inheritance for gene: RAB3GAP2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v1.0 Louise Daugherty promoted panel to version 1.0
Adult onset neurodegenerative disorder v0.153 ERLIN1 Rebecca Foulger Classified gene: ERLIN1 as Green List (high evidence)
Adult onset neurodegenerative disorder 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.
Adult onset neurodegenerative disorder v0.153 ERLIN1 Rebecca Foulger Gene: erlin1 has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.152 HACE1 Rebecca Foulger Classified gene: HACE1 as Green List (high evidence)
Adult onset neurodegenerative disorder 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.
Adult onset neurodegenerative disorder v0.152 HACE1 Rebecca Foulger Gene: hace1 has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.151 AIMP1 Louise Daugherty Added comment: Comment on phenotypes: amended phenotype name from OMIM
Adult onset neurodegenerative disorder v0.151 AIMP1 Louise Daugherty Phenotypes for gene: AIMP1 were changed from Leukodystrophy, hypomyelinating, 260600 to Leukodystrophy, hypomyelinating, 3, 260600
Adult onset neurodegenerative disorder v0.150 AIMP1 Louise Daugherty Phenotypes for gene: AIMP1 were changed from 260600 to Leukodystrophy, hypomyelinating, 260600
Adult onset neurodegenerative disorder v0.149 AAAS Louise Daugherty Phenotypes for gene: AAAS were changed from to Achalasia-addisonianism-alacrimia syndrome, 231550
Adult onset neurodegenerative disorder v0.148 AP1S2 Louise Daugherty Phenotypes for gene: AP1S2 were changed from Dystonia to Dystonia; Mental retardation, X-linked syndromic 5, 304340
Adult onset neurodegenerative disorder v0.147 CACNA1G Louise Daugherty Phenotypes for gene: CACNA1G were changed from to Spinocerebellar ataxia 42, 61679
Adult onset neurodegenerative disorder v0.146 CAMTA1 Louise Daugherty Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia, nonprogressive, with mentalretardation, 614756 to Cerebellarataxia, nonprogressive, with mental retardation, 614756
Adult onset neurodegenerative disorder v0.145 CAMTA1 Louise Daugherty Phenotypes for gene: CAMTA1 were changed from Cerebellarataxia,nonprogressive,withmentalretardation,614756 3 to Cerebellarataxia, nonprogressive, with mentalretardation, 614756
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.143 CHMP1A Louise Daugherty Phenotypes for gene: CHMP1A were changed from Pontocerebellar hypoplasia 8 (#614961) to Pontocerebellar hypoplasia, type 8, 614961
Adult onset neurodegenerative disorder v0.142 CLN6 Louise Daugherty Phenotypes for gene: CLN6 were changed from Neuronal ceroid lipofuscinosis 6 (#601780) and adult onset form (#204300) to Ceroid lipofuscinosis, neuronal, 6, 601780; Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Adult onset neurodegenerative disorder v0.141 COX20 Louise Daugherty Phenotypes for gene: COX20 were changed from to Mitochondrial complex IV deficiency, 220110
Adult onset neurodegenerative disorder v0.140 CP Louise Daugherty Phenotypes for gene: CP were changed from Dystonia; Aceruloplasminemia; Cerebellar ataxia, to Dystonia; Aceruloplasminemia; Cerebellar ataxia, 604290; Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Adult onset neurodegenerative disorder v0.139 CWF19L1 Louise Daugherty Phenotypes for gene: CWF19L1 were changed from to Spinocerebellar ataxia, autosomal recessive 17, 616127
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.137 EXOSC3 Louise Daugherty Phenotypes for gene: EXOSC3 were changed from to Pontocerebellar hypoplasia, type 1B, 614678
Adult onset neurodegenerative disorder v0.136 FOLR1 Louise Daugherty Phenotypes for gene: FOLR1 were changed from to Neurodegeneration due to cerebral folate transport deficiency, 613068
Adult onset neurodegenerative disorder v0.135 GBA2 Louise Daugherty Publications for gene: GBA2 were set to Martin et al. (2013)
Adult onset neurodegenerative disorder v0.134 GBA2 Louise Daugherty Phenotypes for gene: GBA2 were changed from Spastic paraplegia 46, autosomal recessive to Spastic paraplegia 46, autosomal recessive, 614409
Adult onset neurodegenerative disorder v0.133 GLRA1 Louise Daugherty Phenotypes for gene: GLRA1 were changed from 149400 HYPEREKPLEXIA, HEREDITARY 1 to Hyperekplexia, hereditary 1, 149400
Adult onset neurodegenerative disorder v0.132 GLRB Louise Daugherty Phenotypes for gene: GLRB were changed from 614619 HYPEREKPLEXIA 2 to Hyperekplexia 2, 614619
Adult onset neurodegenerative disorder v0.131 GRID2 Louise Daugherty Phenotypes for gene: GRID2 were changed from Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015.; Autosomal recessive spinocerebellar ataxia 18 (#616204) to Spinocerebellar ataxia, autosomal recessive 18, 616204
Adult onset neurodegenerative disorder v0.130 GRID2 Louise Daugherty Publications for gene: GRID2 were set to PMID: 25841024
Adult onset neurodegenerative disorder v0.129 HEXA Louise Daugherty Phenotypes for gene: HEXA were changed from to GM2-gangliosidosis, several forms, 272800; Tay-Sachs disease, 272800
Adult onset neurodegenerative disorder v0.128 HEXB Louise Daugherty Phenotypes for gene: HEXB were changed from to Sandhoff disease, infantile, juvenile, and adult forms, 268800
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.126 MMACHC Louise Daugherty Publications for gene: MMACHC were set to PMID: 26283149
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.124 SIL1 Louise Daugherty Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome, 248800
Adult onset neurodegenerative disorder v0.123 SLC6A5 Louise Daugherty Phenotypes for gene: SLC6A5 were changed from 614618 HYPEREKPLEXIA 3 to Hyperekplexia 3, 614618
Adult onset neurodegenerative disorder v0.122 SLC9A6 Louise Daugherty Phenotypes for gene: SLC9A6 were changed from to Mental retardation, X-linked syndromic, Christianson type, 300243
Adult onset neurodegenerative disorder v0.121 SRD5A3 Louise Daugherty Phenotypes for gene: SRD5A3 were changed from to Congenital disorder of glycosylation, type Iq, 612379; Kahrizi syndrome, 612713
Adult onset neurodegenerative disorder v0.120 TGM6 Louise Daugherty Phenotypes for gene: TGM6 were changed from Spinocerebellar ataxia 35 to Spinocerebellar ataxia 35, 613908
Adult onset neurodegenerative disorder v0.119 TMEM240 Louise Daugherty Phenotypes for gene: TMEM240 were changed from Spinocerebellar ataxia 21 (#616101) to Spinocerebellar ataxia 21, 607454
Adult onset neurodegenerative disorder v0.118 TPP1 Louise Daugherty Phenotypes for gene: TPP1 were changed from Autosomal recessive spinocerebellar ataxia 7 (#607998); Neuronal ceroid lipfuscinosis 7 (204500) to Ceroid lipofuscinosis, neuronal, 2, 204500; Spinocerebellar ataxia, autosomal recessive 7, 609270
Adult onset neurodegenerative disorder v0.117 TSEN2 Louise Daugherty Phenotypes for gene: TSEN2 were changed from Pontocerebellar hypoplasia 2B (612389) to Pontocerebellar hypoplasia 2B, 612389
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.115 TTC19 Louise Daugherty Phenotypes for gene: TTC19 were changed from Nuclear type mitochondrial complex III deficiency (#615157) to Mitochondrial complex III deficiency, nuclear type 2, 615157
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.112 COQ8A Louise Daugherty Phenotypes for gene: COQ8A were changed from Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type to Coenzyme Q10 deficiency, primary 4, 612016; Spinocerebellar Ataxia Type
Adult onset neurodegenerative disorder v0.111 VPS13D Louise Daugherty Phenotypes for gene: VPS13D were changed from spastic ataxia to Spinocerebellar ataxia, autosomal recessive 4, 607317
Adult onset neurodegenerative disorder v0.110 WDR73 Louise Daugherty Phenotypes for gene: WDR73 were changed from Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature; Galloway Mowat Syndrome to Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature; Galloway-Mowat syndrome 1, 251300
Adult onset neurodegenerative disorder v0.109 WDR81 Louise Daugherty Phenotypes for gene: WDR81 were changed from Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185
Adult onset neurodegenerative disorder v0.108 WFS1 Louise Daugherty Phenotypes for gene: WFS1 were changed from to Wolfram syndrome 1, 222300
Adult onset neurodegenerative disorder v0.107 WWOX Louise Daugherty Phenotypes for gene: WWOX were changed from Autosomal recessive spinocerebellar ataxia 12 (#614322) to Autosomal recessive spinocerebellar ataxia 12, 614322
Adult onset neurodegenerative disorder v0.106 TSEN54 Louise Daugherty Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia 2A, 277470, Pontocerebellar hypoplasia 4, 225753 to Pontocerebellar hypoplasia 2A, 277470; Pontocerebellar hypoplasia 4, 225753
Adult onset neurodegenerative disorder v0.105 TSEN54 Louise Daugherty Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753) to Pontocerebellar hypoplasia 2A, 277470, Pontocerebellar hypoplasia 4, 225753
Adult onset neurodegenerative disorder v0.105 TSEN54 Louise Daugherty Phenotypes for gene: TSEN54 were changed from Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753) to Pontocerebellar hypoplasia 2A, 277470, Pontocerebellar hypoplasia 4, 225753
Adult onset neurodegenerative disorder v0.103 SLC2A1 Rebecca Foulger Publications for gene: SLC2A1 were set to 19630075; 18451999; 18577546; 11136715; 21832227; 18606970
Adult onset neurodegenerative disorder v0.102 RAB3GAP2 Rebecca Foulger Classified gene: RAB3GAP2 as Red List (low evidence)
Adult onset neurodegenerative disorder v0.102 RAB3GAP2 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red following review on the Hereditary spastic paraplegia panel.
Adult onset neurodegenerative disorder v0.102 RAB3GAP2 Rebecca Foulger Gene: rab3gap2 has been classified as Red List (Low Evidence).
Adult onset neurodegenerative disorder v0.101 LYST Rebecca Foulger Publications for gene: LYST were set to 23436631; 11857544; 9215680; 8896560; 9215679; 24521565
Adult onset neurodegenerative disorder v0.100 KLC4 Rebecca Foulger Phenotypes for gene: KLC4 were changed from spastic paraplegia to spastic paraplegia; progressive complicated spastic paraplegia
Adult onset neurodegenerative disorder v0.99 KLC4 Rebecca Foulger Classified gene: KLC4 as Red List (low evidence)
Adult onset neurodegenerative disorder v0.99 KLC4 Rebecca Foulger Added comment: Comment on list classification: Kept rating as Red following review on the Hereditary spastic paraplegia panel.
Adult onset neurodegenerative disorder v0.99 KLC4 Rebecca Foulger Gene: klc4 has been classified as Red List (Low Evidence).
Adult onset neurodegenerative disorder v0.98 KDM5C Rebecca Foulger Classified gene: KDM5C as Amber List (moderate evidence)
Adult onset neurodegenerative disorder 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.
Adult onset neurodegenerative disorder v0.98 KDM5C Rebecca Foulger Gene: kdm5c has been classified as Amber List (Moderate Evidence).
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.96 HACE1 Rebecca Foulger Classified gene: HACE1 as Amber List (moderate evidence)
Adult onset neurodegenerative disorder 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.
Adult onset neurodegenerative disorder v0.96 HACE1 Rebecca Foulger Gene: hace1 has been classified as Amber List (Moderate Evidence).
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.94 ERLIN1 Rebecca Foulger Phenotypes for gene: ERLIN1 were changed from Hereditary spastic paraplegia to Hereditary spastic paraplegia; Spastic paraplegia 62, 615681
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.92 DARS Rebecca Foulger Classified gene: DARS as Amber List (moderate evidence)
Adult onset neurodegenerative disorder 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.
Adult onset neurodegenerative disorder v0.92 DARS Rebecca Foulger Gene: dars has been classified as Amber List (Moderate Evidence).
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.90 CYP27A1 Rebecca Foulger Publications for gene: CYP27A1 were set to 25862734
Adult onset neurodegenerative disorder v0.89 ATP13A2 Rebecca Foulger Phenotypes for gene: ATP13A2 were changed from Parkinson disease 9, 606693; Dystonia; Kufor-Rakeb syndrome; Kufor-Rakeb Syndrome; Parkinson disease; Adult-onset lower-limb predominant spastic paraparesis to Parkinson disease 9, 606693; Dystonia; Kufor-Rakeb syndrome; Kufor-Rakeb Syndrome; Parkinson disease; Adult-onset lower-limb predominant spastic paraparesis; Spastic paraplegia 78, autosomal recessive, 617225; complicated hereditary spastic paraplegia
Adult onset neurodegenerative disorder v0.88 ATP13A2 Rebecca Foulger Publications for gene: ATP13A2 were set to 28137957
Adult onset neurodegenerative disorder v0.87 ARG1 Louise Daugherty Phenotypes for gene: ARG1 were changed from Argininaemia 207800; Progressive spastic tetraplegia to Argininaemia, 207800; Progressive spastic tetraplegia
Adult onset neurodegenerative disorder v0.86 ARG1 Louise Daugherty Phenotypes for gene: ARG1 were changed from Argininaemia, 207800; Progressive spastic tetraplegia to Argininaemia 207800; Progressive spastic tetraplegia
Adult onset neurodegenerative disorder v0.85 ARG1 Rebecca Foulger Phenotypes for gene: ARG1 were changed from Argininaemia; Progressive spastic tetraplegia to Argininaemia, 207800; Progressive spastic tetraplegia
Adult onset neurodegenerative disorder v0.84 ARG1 Rebecca Foulger Publications for gene: ARG1 were set to 26310552; 23859858
Adult onset neurodegenerative disorder v0.83 ARG1 Rebecca Foulger Classified gene: ARG1 as Green List (high evidence)
Adult onset neurodegenerative disorder 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.
Adult onset neurodegenerative disorder v0.83 ARG1 Rebecca Foulger Gene: arg1 has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.82 ABCD1 Rebecca Foulger Publications for gene: ABCD1 were set to 11810273; 27084228; 11739809; 26049658
Adult onset neurodegenerative disorder v0.81 ABCD1 Rebecca Foulger Phenotypes for gene: ABCD1 were changed from Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation to Hereditary spastic paraplegia; adrenal failure; VLCFA accumulation; spastic paraparesis
Adult onset neurodegenerative disorder v0.80 ABCD1 Rebecca Foulger Classified gene: ABCD1 as Green List (high evidence)
Adult onset neurodegenerative disorder 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.
Adult onset neurodegenerative disorder v0.80 ABCD1 Rebecca Foulger Gene: abcd1 has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.79 AR_CAG Louise Daugherty Classified STR: AR_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.79 AR_CAG Louise Daugherty Str: ar_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.78 AR_CAG Louise Daugherty edited their review of STR: AR_CAG: Changed rating: GREEN
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.77 ATN1_CAG Louise Daugherty Classified STR: ATN1_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.77 ATN1_CAG Louise Daugherty Str: atn1_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.75 ATXN10_ATTCT Louise Daugherty Classified STR: ATXN10_ATTCT as Green List (high evidence)
Adult onset neurodegenerative disorder v0.75 ATXN10_ATTCT Louise Daugherty Str: atxn10_attct has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.74 ATXN10_ATTCT Louise Daugherty STR: ATXN10_ATTCT was added
STR: ATXN10_ATTCT was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: ATXN10_ATTCT.
Mode of inheritance for STR: ATXN10_ATTCT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN10_ATTCT were set to Spinocerebellar ataxia 10 603516
Review for STR: ATXN10_ATTCT was set to GREEN
Added comment: Source PanelApp panels :Hereditary spastic paraplegia v1.143, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Hereditary ataxia v1.150
Sources: Expert list
Adult onset neurodegenerative disorder v0.73 ATXN1_CAG Louise Daugherty Classified STR: ATXN1_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.73 ATXN1_CAG Louise Daugherty Str: atxn1_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.72 ATXN1_CAG Louise Daugherty STR: ATXN1_CAG was added
STR: ATXN1_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: ATXN1_CAG.
Mode of inheritance for STR: ATXN1_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN1_CAG were set to Spinocerebellar ataxia 1 164400
Review for STR: ATXN1_CAG was set to GREEN
Added comment: Source PanelApp panels :Hereditary ataxia v1.150, Hereditary spastic paraplegia v1.143, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Parkinson Disease and Complex Parkinsonism v1.64.
Sources: Expert list
Adult onset neurodegenerative disorder v0.71 ATXN2_CAG Louise Daugherty Classified STR: ATXN2_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.71 ATXN2_CAG Louise Daugherty Str: atxn2_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.70 ATXN2_CAG Louise Daugherty STR: ATXN2_CAG was added
STR: ATXN2_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: ATXN2_CAG.
Mode of inheritance for STR: ATXN2_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN2_CAG were set to Spinocerebellar ataxia 2 183090
Review for STR: ATXN2_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia v1.150, Hereditary spastic paraplegia v1.143, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.64.
Sources: Expert list
Adult onset neurodegenerative disorder v0.68 ANO10 Louise Daugherty Phenotypes for gene: ANO10 were changed from Spinocerebellar ataxia, autosomal recessive 10, to Spinocerebellar ataxia, autosomal recessive 10, 613728
Adult onset neurodegenerative disorder v0.67 ALS2 Louise Daugherty Phenotypes for gene: ALS2 were changed from 607225; Primary lateral sclerosis, juvenile, 606353; Spastic paralysis, infantile onset ascending, 607225; Amyotrophic lateral sclerosis 2, juvenile, 205100; Amyotrophic Lateral Sclerosis, Recessive to Primary lateral sclerosis, juvenile, 606353; Spastic paralysis, infantile onset ascending, 607225; Amyotrophic lateral sclerosis 2, juvenile, 205100; Amyotrophic Lateral Sclerosis, Recessive
Adult onset neurodegenerative disorder v0.66 ATXN3_CAG Louise Daugherty Classified STR: ATXN3_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.66 ATXN3_CAG Louise Daugherty Str: atxn3_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.65 ATXN3_CAG Louise Daugherty STR: ATXN3_CAG was added
STR: ATXN3_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: ATXN3_CAG.
Mode of inheritance for STR: ATXN3_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN3_CAG were set to Machado-Joseph disease 109150
Review for STR: ATXN3_CAG was set to GREEN
Added comment: Source PanelApp panels : Early onset dystonia v1.76, Parkinson Disease and Complex Parkinsonism v1.64, Hereditary ataxia v1.150, Hereditary spastic paraplegia v1.143.
Sources: Expert list
Adult onset neurodegenerative disorder v0.64 CSTB_CCCCGCCCCGCG Louise Daugherty Classified STR: CSTB_CCCCGCCCCGCG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.64 CSTB_CCCCGCCCCGCG Louise Daugherty Str: cstb_ccccgccccgcg has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.62 FXN_GAA Louise Daugherty Classified STR: FXN_GAA as Green List (high evidence)
Adult onset neurodegenerative disorder v0.62 FXN_GAA Louise Daugherty Str: fxn_gaa has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.61 FXN_GAA Louise Daugherty STR: FXN_GAA was added
STR: FXN_GAA was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: FXN_GAA.
Mode of inheritance for STR: FXN_GAA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for STR: FXN_GAA were set to Friedreich ataxia 229300
Review for STR: FXN_GAA was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia v1.143, Hereditary ataxia v1.150
Sources: Expert list
Adult onset neurodegenerative disorder v0.60 HTT_CAG Louise Daugherty Classified STR: HTT_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.60 HTT_CAG Louise Daugherty Str: htt_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.60 HTT_CAG Louise Daugherty Classified STR: HTT_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.60 HTT_CAG Louise Daugherty Str: htt_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.59 HTT_CAG Louise Daugherty STR: HTT_CAG was added
STR: HTT_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: HTT_CAG.
Mode of inheritance for STR: HTT_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: HTT_CAG were set to Huntington disease 143100
Review for STR: HTT_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia v1.143, Parkinson Disease and Complex Parkinsonism v1.64, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.46, Hereditary ataxia v1.150
Sources: Expert list
Adult onset neurodegenerative disorder v0.58 ATXN7_CAG Louise Daugherty Classified STR: ATXN7_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.58 ATXN7_CAG Louise Daugherty Str: atxn7_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.57 ATXN7_CAG Louise Daugherty STR: ATXN7_CAG was added
STR: ATXN7_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: ATXN7_CAG.
Mode of inheritance for STR: ATXN7_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: ATXN7_CAG were set to Spinocerebellar ataxia 7 164500
Review for STR: ATXN7_CAG was set to GREEN
Added comment: Source PanelApp panels : Hereditary spastic paraplegia v1.141, Hereditary ataxia v1.148.
Sources: Expert list
Adult onset neurodegenerative disorder v0.56 C9orf72_GGGGCC Louise Daugherty Classified STR: C9orf72_GGGGCC as Green List (high evidence)
Adult onset neurodegenerative disorder v0.56 C9orf72_GGGGCC Louise Daugherty Str: c9orf72_ggggcc has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.55 C9orf72_GGGGCC Louise Daugherty STR: C9orf72_GGGGCC was added
STR: C9orf72_GGGGCC was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: C9orf72_GGGGCC.
Mode of inheritance for STR: C9orf72_GGGGCC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: C9orf72_GGGGCC were set to Frontotemporal dementia and/or amyotrophic lateral sclerosis 1 105550
Review for STR: C9orf72_GGGGCC was set to GREEN
Added comment: Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.45, Amyotrophic lateral sclerosis/motor neuron disease v1.26
Sources: Expert list
Adult onset neurodegenerative disorder v0.54 CACNA1A_CAG Louise Daugherty Classified STR: CACNA1A_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.54 CACNA1A_CAG Louise Daugherty Str: cacna1a_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.52 JPH3_CTG Louise Daugherty Classified STR: JPH3_CTG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.52 JPH3_CTG Louise Daugherty Str: jph3_ctg has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.51 JPH3_CTG Louise Daugherty STR: JPH3_CTG was added
STR: JPH3_CTG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: JPH3_CTG.
Mode of inheritance for STR: JPH3_CTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: JPH3_CTG were set to Huntington disease-like 2 606438
Review for STR: JPH3_CTG was set to GREEN
Added comment: Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.45, Early onset dystonia v1.76.
Sources: Expert list
Adult onset neurodegenerative disorder v0.50 NOP56_GGCCTG Louise Daugherty Classified STR: NOP56_GGCCTG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.50 NOP56_GGCCTG Louise Daugherty Str: nop56_ggcctg has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.50 NOP56_GGCCTG Louise Daugherty Classified STR: NOP56_GGCCTG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.50 NOP56_GGCCTG Louise Daugherty Str: nop56_ggcctg has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.49 NOP56_GGCCTG Louise Daugherty STR: NOP56_GGCCTG was added
STR: NOP56_GGCCTG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: NOP56_GGCCTG.
Mode of inheritance for STR: NOP56_GGCCTG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for STR: NOP56_GGCCTG were set to Spinocerebellar ataxia 36 614153
Review for STR: NOP56_GGCCTG was set to GREEN
Added comment: Source PanelApp panels : Hereditary ataxia v1.148, Amyotrophic lateral sclerosis/motor neuron disease v1.26, Early onset dementia (encompassing fronto-temporal dementia and prion disease) v1.45.
Sources: Expert list
Adult onset neurodegenerative disorder v0.47 ABCD1 Rebecca Foulger Classified gene: ABCD1 as Red List (low evidence)
Adult onset neurodegenerative disorder v0.47 ABCD1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Red, to include gene on merged panel. Gene still requires review/curator evaluation for a final rating.
Adult onset neurodegenerative disorder v0.47 ABCD1 Rebecca Foulger Gene: abcd1 has been classified as Red List (Low Evidence).
Adult onset neurodegenerative disorder v0.46 ARG1 Rebecca Foulger Classified gene: ARG1 as Red List (low evidence)
Adult onset neurodegenerative disorder v0.46 ARG1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Red, to include gene on merged panel. Gene still requires review/curator evaluation for a final rating.
Adult onset neurodegenerative disorder v0.46 ARG1 Rebecca Foulger Gene: arg1 has been classified as Red List (Low Evidence).
Adult onset neurodegenerative disorder v0.45 DARS Rebecca Foulger Classified gene: DARS as Red List (low evidence)
Adult onset neurodegenerative disorder v0.45 DARS Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Red, to include gene on merged panel. Gene still requires review/curator evaluation for a final rating.
Adult onset neurodegenerative disorder v0.45 DARS Rebecca Foulger Gene: dars has been classified as Red List (Low Evidence).
Adult onset neurodegenerative disorder v0.44 ERLIN1 Rebecca Foulger Classified gene: ERLIN1 as Red List (low evidence)
Adult onset neurodegenerative disorder v0.44 ERLIN1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Red, to include gene on merged panel. Gene still requires review/curator evaluation for a final rating.
Adult onset neurodegenerative disorder v0.44 ERLIN1 Rebecca Foulger Gene: erlin1 has been classified as Red List (Low Evidence).
Adult onset neurodegenerative disorder v0.43 HACE1 Rebecca Foulger Classified gene: HACE1 as Red List (low evidence)
Adult onset neurodegenerative disorder v0.43 HACE1 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Red, to include gene on merged panel. Gene still requires review/curator evaluation for a final rating.
Adult onset neurodegenerative disorder v0.43 HACE1 Rebecca Foulger Gene: hace1 has been classified as Red List (Low Evidence).
Adult onset neurodegenerative disorder v0.42 KDM5C Rebecca Foulger Classified gene: KDM5C as Red List (low evidence)
Adult onset neurodegenerative disorder v0.42 KDM5C Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Red, to include gene on merged panel. Gene still requires review/curator evaluation for a final rating.
Adult onset neurodegenerative disorder v0.42 KDM5C Rebecca Foulger Gene: kdm5c has been classified as Red List (Low Evidence).
Adult onset neurodegenerative disorder v0.41 KLC4 Rebecca Foulger Classified gene: KLC4 as Red List (low evidence)
Adult onset neurodegenerative disorder v0.41 KLC4 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Red, to include gene on merged panel. Gene still requires review/curator evaluation for a final rating.
Adult onset neurodegenerative disorder v0.41 KLC4 Rebecca Foulger Gene: klc4 has been classified as Red List (Low Evidence).
Adult onset neurodegenerative disorder v0.40 RAB3GAP2 Rebecca Foulger Classified gene: RAB3GAP2 as Red List (low evidence)
Adult onset neurodegenerative disorder v0.40 RAB3GAP2 Rebecca Foulger Added comment: Comment on list classification: Updated rating from Grey to Red, to include gene on merged panel. Gene still requires review/curator evaluation for a final rating.
Adult onset neurodegenerative disorder v0.40 RAB3GAP2 Rebecca Foulger Gene: rab3gap2 has been classified as Red List (Low Evidence).
Adult onset neurodegenerative disorder v0.39 PPP2R2B_CAG Louise Daugherty Classified STR: PPP2R2B_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.39 PPP2R2B_CAG Louise Daugherty Str: ppp2r2b_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder v0.38 PPP2R2B_CAG Louise Daugherty STR: PPP2R2B_CAG was added
STR: PPP2R2B_CAG was added to Neurodegenerative disorders - adult onset. Sources: Expert list
STR tags were added to STR: PPP2R2B_CAG.
Mode of inheritance for STR: PPP2R2B_CAG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for STR: PPP2R2B_CAG were set to 20301381
Phenotypes for STR: PPP2R2B_CAG were set to Spinocerebellar ataxia 12 604326
Review for STR: PPP2R2B_CAG was set to GREEN
Added comment: Source PanelApp panels : Parkinson Disease and Complex Parkinsonism v1.64, Hereditary spastic paraplegia v1.141, Hereditary ataxia v1.148
Sources: Expert list
Adult onset neurodegenerative disorder v0.37 TBP_CAG Louise Daugherty Classified STR: TBP_CAG as Green List (high evidence)
Adult onset neurodegenerative disorder v0.37 TBP_CAG Louise Daugherty Str: tbp_cag has been classified as Green List (High Evidence).
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.34 TUBB4A Rebecca Foulger Mode of pathogenicity for gene: TUBB4A was changed from to Other
Adult onset neurodegenerative disorder v0.33 SOD1 Rebecca Foulger Mode of pathogenicity for gene: SOD1 was changed from to Other
Adult onset neurodegenerative disorder v0.32 SNCA Rebecca Foulger Mode of pathogenicity for gene: SNCA was changed from to Other
Adult onset neurodegenerative disorder v0.31 ITPR1 Rebecca Foulger Mode of pathogenicity for gene: ITPR1 was changed from to Other
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.29 AR Rebecca Foulger Mode of pathogenicity for gene: AR was changed from to Other
Adult onset neurodegenerative disorder v0.28 AFG3L2 Rebecca Foulger Mode of pathogenicity for gene: AFG3L2 was changed from to Other
Adult onset neurodegenerative disorder v0.27 RAB3GAP2 Rebecca Foulger commented on gene: RAB3GAP2
Adult onset neurodegenerative disorder v0.27 KLC4 Rebecca Foulger commented on gene: KLC4
Adult onset neurodegenerative disorder v0.27 KDM5C Rebecca Foulger commented on gene: KDM5C
Adult onset neurodegenerative disorder v0.27 HACE1 Rebecca Foulger commented on gene: HACE1
Adult onset neurodegenerative disorder v0.27 ERLIN1 Rebecca Foulger commented on gene: ERLIN1
Adult onset neurodegenerative disorder v0.27 DARS Rebecca Foulger commented on gene: DARS
Adult onset neurodegenerative disorder v0.27 ARG1 Rebecca Foulger commented on gene: ARG1
Adult onset neurodegenerative disorder v0.27 ABCD1 Rebecca Foulger commented on gene: ABCD1
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.26 SLC2A1 Rebecca Foulger Publications for gene: SLC2A1 were set to 19630075; 18451999; 18577546
Adult onset neurodegenerative disorder v0.25 RAB3GAP2 Rebecca Foulger Classified gene: RAB3GAP2 as No list
Adult onset neurodegenerative disorder v0.25 RAB3GAP2 Rebecca Foulger Gene: rab3gap2 has been removed from the panel.
Adult onset neurodegenerative disorder v0.24 RAB3GAP2 Rebecca Foulger gene: RAB3GAP2 was added
gene: RAB3GAP2 was added to Neurodegenerative disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: RAB3GAP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: RAB3GAP2 were set to 24482476
Phenotypes for gene: RAB3GAP2 were set to spastic paraplegia
Adult onset neurodegenerative disorder v0.23 LYST Rebecca Foulger Publications for gene: LYST were set to 23436631; 11857544; 9215680; 8896560; 9215679
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.21 KLC4 Rebecca Foulger Classified gene: KLC4 as No list
Adult onset neurodegenerative disorder v0.21 KLC4 Rebecca Foulger Gene: klc4 has been removed from the panel.
Adult onset neurodegenerative disorder v0.20 KLC4 Rebecca Foulger gene: KLC4 was added
gene: KLC4 was added to Neurodegenerative disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: KLC4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: KLC4 were set to 26423925
Phenotypes for gene: KLC4 were set to spastic paraplegia
Adult onset neurodegenerative disorder v0.19 KDM5C Rebecca Foulger Classified gene: KDM5C as No list
Adult onset neurodegenerative disorder v0.19 KDM5C Rebecca Foulger Gene: kdm5c has been removed from the panel.
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.17 HACE1 Rebecca Foulger Classified gene: HACE1 as No list
Adult onset neurodegenerative disorder v0.17 HACE1 Rebecca Foulger Gene: hace1 has been removed from the panel.
Adult onset neurodegenerative disorder v0.16 HACE1 Rebecca Foulger gene: HACE1 was added
gene: HACE1 was added to Neurodegenerative disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: HACE1 were set to 26424145; 26437029
Phenotypes for gene: HACE1 were set to Spastic paraplegia; psychomotor retardation; seizure
Adult onset neurodegenerative disorder v0.15 ERLIN1 Rebecca Foulger Classified gene: ERLIN1 as No list
Adult onset neurodegenerative disorder v0.15 ERLIN1 Rebecca Foulger Gene: erlin1 has been removed from the panel.
Adult onset neurodegenerative disorder v0.14 ERLIN1 Rebecca Foulger gene: ERLIN1 was added
gene: ERLIN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: ERLIN1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ERLIN1 were set to 24482476
Phenotypes for gene: ERLIN1 were set to Hereditary spastic paraplegia
Adult onset neurodegenerative disorder v0.13 DARS Rebecca Foulger Classified gene: DARS as No list
Adult onset neurodegenerative disorder v0.13 DARS Rebecca Foulger Gene: dars has been removed from the panel.
Adult onset neurodegenerative disorder v0.12 DARS Rebecca Foulger gene: DARS was added
gene: DARS was added to Neurodegenerative disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: DARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DARS were set to 23643384; 25527264
Phenotypes for gene: DARS were set to Brain stem and spinal cord Hypomyelination; leg spasticity
Adult onset neurodegenerative disorder v0.11 CYP27A1 Rebecca Foulger Phenotypes for gene: CYP27A1 were changed from Dystonia to Dystonia; progressive lower extremity spasticity,often disproportionate to any degree of weakness
Adult onset neurodegenerative disorder v0.10 CYP27A1 Rebecca Foulger Publications for gene: CYP27A1 were set to
Adult onset neurodegenerative disorder v0.9 ATP13A2 Rebecca Foulger Phenotypes for gene: ATP13A2 were changed from Parkinson disease 9, 606693; Dystonia; Kufor-Rakeb syndrome; Kufor-Rakeb Syndrome; Parkinson disease to Parkinson disease 9, 606693; Dystonia; Kufor-Rakeb syndrome; Kufor-Rakeb Syndrome; Parkinson disease; Adult-onset lower-limb predominant spastic paraparesis
Adult onset neurodegenerative disorder v0.8 ATP13A2 Rebecca Foulger Publications for gene: ATP13A2 were set to
Adult onset neurodegenerative disorder v0.7 ARG1 Rebecca Foulger Classified gene: ARG1 as No list
Adult onset neurodegenerative disorder v0.7 ARG1 Rebecca Foulger Gene: arg1 has been removed from the panel.
Adult onset neurodegenerative disorder v0.6 ARG1 Rebecca Foulger gene: ARG1 was added
gene: ARG1 was added to Neurodegenerative disorders - adult onset. Sources: Expert list
Mode of inheritance for gene: ARG1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARG1 were set to 26310552; 23859858
Phenotypes for gene: ARG1 were set to Argininaemia; Progressive spastic tetraplegia
Adult onset neurodegenerative disorder v0.5 ABCD1 Rebecca Foulger Classified gene: ABCD1 as No list
Adult onset neurodegenerative disorder v0.5 ABCD1 Rebecca Foulger Gene: abcd1 has been removed from the panel.
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 VAMP1 Rebecca Foulger Tag founder-effect tag was added to gene: VAMP1.
Adult onset neurodegenerative disorder v0.2 TBP Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: TBP.
Tag currently-ngs-unreportable tag was added to gene: TBP.
Adult onset neurodegenerative disorder v0.2 PPP2R2B Rebecca Foulger Tag watchlist tag was added to gene: PPP2R2B.
Tag nucleotide-repeat-expansion tag was added to gene: PPP2R2B.
Tag currently-ngs-unreportable tag was added to gene: PPP2R2B.
Adult onset neurodegenerative disorder v0.2 PCDH12 Rebecca Foulger Tag founder-effect tag was added to gene: PCDH12.
Adult onset neurodegenerative disorder v0.2 NOP56 Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: NOP56.
Tag currently-ngs-unreportable tag was added to gene: NOP56.
Adult onset neurodegenerative disorder v0.2 JPH3 Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: JPH3.
Tag currently-ngs-unreportable tag was added to gene: JPH3.
Adult onset neurodegenerative disorder v0.2 HTT Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: HTT.
Tag currently-ngs-unreportable tag was added to gene: HTT.
Adult onset neurodegenerative disorder v0.2 DSTYK Rebecca Foulger Tag founder-effect tag was added to gene: DSTYK.
Adult onset neurodegenerative disorder v0.2 DAB1 Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: DAB1.
Tag founder-effect tag was added to gene: DAB1.
Tag currently-ngs-unreportable tag was added to gene: DAB1.
Adult onset neurodegenerative disorder v0.2 C9orf72 Rebecca Foulger Tag currently-ngs-unreportable tag was added to gene: C9orf72.
Adult onset neurodegenerative disorder v0.2 C9orf72 Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: C9orf72.
Adult onset neurodegenerative disorder v0.2 BEAN1 Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: BEAN1.
Tag currently-ngs-unreportable tag was added to gene: BEAN1.
Tag structural-variant tag was added to gene: BEAN1.
Adult onset neurodegenerative disorder v0.2 ATXN8 Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: ATXN8.
Tag currently-ngs-unreportable tag was added to gene: ATXN8.
Adult onset neurodegenerative disorder v0.2 ATXN7 Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: ATXN7.
Tag currently-ngs-unreportable tag was added to gene: ATXN7.
Adult onset neurodegenerative disorder v0.2 ATXN3 Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: ATXN3.
Tag currently-ngs-unreportable tag was added to gene: ATXN3.
Adult onset neurodegenerative disorder v0.2 ATXN2 Rebecca Foulger Tag currently-ngs-unreportable tag was added to gene: ATXN2.
Adult onset neurodegenerative disorder v0.2 ATXN2 Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: ATXN2.
Adult onset neurodegenerative disorder v0.2 ATXN10 Rebecca Foulger Tag watchlist tag was added to gene: ATXN10.
Tag nucleotide-repeat-expansion tag was added to gene: ATXN10.
Tag currently-ngs-unreportable tag was added to gene: ATXN10.
Adult onset neurodegenerative disorder v0.2 ATXN1 Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: ATXN1.
Tag currently-ngs-unreportable tag was added to gene: ATXN1.
Adult onset neurodegenerative disorder v0.2 ATP6AP2 Rebecca Foulger Tag watchlist tag was added to gene: ATP6AP2.
Adult onset neurodegenerative disorder v0.2 ATN1 Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: ATN1.
Adult onset neurodegenerative disorder v0.2 ATN1 Rebecca Foulger Tag currently-ngs-unreportable tag was added to gene: ATN1.
Adult onset neurodegenerative disorder v0.2 VAMP1 Rebecca Foulger Tag watchlist tag was added to gene: VAMP1.
Adult onset neurodegenerative disorder v0.2 TAF1 Rebecca Foulger Tag sva tag was added to gene: TAF1.
Adult onset neurodegenerative disorder v0.2 MAG Rebecca Foulger Tag watchlist tag was added to gene: MAG.
Adult onset neurodegenerative disorder v0.2 GNAL Rebecca Foulger Tag watchlist tag was added to gene: GNAL.
Adult onset neurodegenerative disorder v0.2 VPS35 Rebecca Foulger Tag missense tag was added to gene: VPS35.
Adult onset neurodegenerative disorder v0.2 TH Rebecca Foulger Tag treatable tag was added to gene: TH.
Adult onset neurodegenerative disorder v0.2 TARDBP Rebecca Foulger Tag polygenic tag was added to gene: TARDBP.
Adult onset neurodegenerative disorder v0.2 SPR Rebecca Foulger Tag treatable tag was added to gene: SPR.
Adult onset neurodegenerative disorder v0.2 SNCA Rebecca Foulger Tag gene-duplication tag was added to gene: SNCA.
Adult onset neurodegenerative disorder v0.2 SLC52A2 Rebecca Foulger Tag treatable tag was added to gene: SLC52A2.
Adult onset neurodegenerative disorder v0.2 SLC30A10 Rebecca Foulger Tag treatable tag was added to gene: SLC30A10.
Adult onset neurodegenerative disorder v0.2 SAR1B Rebecca Foulger Tag treatable tag was added to gene: SAR1B.
Adult onset neurodegenerative disorder v0.2 PRRT2 Rebecca Foulger Tag treatable tag was added to gene: PRRT2.
Adult onset neurodegenerative disorder v0.2 MARS2 Rebecca Foulger Tag cnv tag was added to gene: MARS2.
Tag gene-duplication tag was added to gene: MARS2.
Adult onset neurodegenerative disorder v0.2 MAPT Rebecca Foulger Tag treatable tag was added to gene: MAPT.
Adult onset neurodegenerative disorder v0.2 LRRK2 Rebecca Foulger Tag missense tag was added to gene: LRRK2.
Tag curated-variant-list tag was added to gene: LRRK2.
Adult onset neurodegenerative disorder v0.2 KMT2B Rebecca Foulger Tag treatable tag was added to gene: KMT2B.
Adult onset neurodegenerative disorder v0.2 KIF1A Rebecca Foulger Tag watchlist tag was added to gene: KIF1A.
Adult onset neurodegenerative disorder v0.2 KCNA1 Rebecca Foulger Tag treatable tag was added to gene: KCNA1.
Adult onset neurodegenerative disorder v0.2 GNAO1 Rebecca Foulger Tag mosaicism tag was added to gene: GNAO1.
Adult onset neurodegenerative disorder v0.2 GBA Rebecca Foulger Tag treatable tag was added to gene: GBA.
Adult onset neurodegenerative disorder v0.2 FXN Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: FXN.
Adult onset neurodegenerative disorder v0.2 FMR1 Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: FMR1.
Adult onset neurodegenerative disorder v0.2 CSF1R Rebecca Foulger Tag adult-onset tag was added to gene: CSF1R.
Adult onset neurodegenerative disorder v0.2 CACNB4 Rebecca Foulger Tag treatable tag was added to gene: CACNB4.
Adult onset neurodegenerative disorder v0.2 CACNA1A Rebecca Foulger Tag treatable tag was added to gene: CACNA1A.
Adult onset neurodegenerative disorder v0.2 CACNA1A Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: CACNA1A.
Adult onset neurodegenerative disorder v0.2 ATP7B Rebecca Foulger Tag treatable tag was added to gene: ATP7B.
Adult onset neurodegenerative disorder v0.2 ATP1A3 Rebecca Foulger Tag treatable tag was added to gene: ATP1A3.
Adult onset neurodegenerative disorder v0.2 ATP1A2 Rebecca Foulger Tag treatable tag was added to gene: ATP1A2.
Adult onset neurodegenerative disorder v0.2 AR Rebecca Foulger Tag nucleotide-repeat-expansion tag was added to gene: AR.
Tag currently-ngs-unreportable tag was added to gene: AR.
Adult onset neurodegenerative disorder v0.2 ISCA-37478-Loss Rebecca Foulger Region: ISCA-37478-Loss was added
Region: ISCA-37478-Loss was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37478-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Loss were set to 7611294; 22045295
Phenotypes for Region: ISCA-37478-Loss were set to microcephaly; Developmental delay, muscle weakness; 176270; Angelman syndrome; Prader-Willi syndrome; 105830; Mental retardation
Adult onset neurodegenerative disorder v0.2 ISCA-37478-Gain Rebecca Foulger Region: ISCA-37478-Gain was added
Region: ISCA-37478-Gain was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37478-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37478-Gain were set to 16840569; 9106540; 18374305
Phenotypes for Region: ISCA-37478-Gain were set to autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems; hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636; chromosome 15q11-q13 duplication syndrome
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 ISCA-37404-Loss Rebecca Foulger Region: ISCA-37404-Loss was added
Region: ISCA-37404-Loss was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for Region: ISCA-37404-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for Region: ISCA-37404-Loss were set to 7611294; 22045295
Phenotypes for Region: ISCA-37404-Loss were set to microcephaly; Developmental delay, muscle weakness; 176270; 105831; Angelman syndrome; Prader-Willi syndrome; Mental retardation
Adult onset neurodegenerative disorder v0.2 ZNF592 Rebecca Foulger gene: ZNF592 was added
gene: ZNF592 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ZNF592 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ZNF592 were set to Spinocerebellar ataxia, autosomal recessive 5
Adult onset neurodegenerative disorder v0.2 ZFYVE27 Rebecca Foulger gene: ZFYVE27 was added
gene: ZFYVE27 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ZFYVE27 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ZFYVE27 were set to Mannan AU (2006)
Phenotypes for gene: ZFYVE27 were set to Spastic paraplegia 33, autosomal dominant
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 ZFYVE26 Rebecca Foulger gene: ZFYVE26 was added
gene: ZFYVE26 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ZFYVE26 were set to PMID:25497598; 25842392; Hanein et al. (2008)
Phenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive
Adult onset neurodegenerative disorder v0.2 ZEB2 Rebecca Foulger gene: ZEB2 was added
gene: ZEB2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ZEB2 was set to Unknown
Adult onset neurodegenerative disorder v0.2 YY1 Rebecca Foulger gene: YY1 was added
gene: YY1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: YY1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: YY1 were set to 28575647
Phenotypes for gene: YY1 were set to Gabriele-de Vries syndrome 617557
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 WWOX Rebecca Foulger gene: WWOX was added
gene: WWOX was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WWOX were set to Autosomal recessive spinocerebellar ataxia 12 (#614322)
Adult onset neurodegenerative disorder v0.2 WFS1 Rebecca Foulger gene: WFS1 was added
gene: WFS1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v0.2 WDR81 Rebecca Foulger gene: WDR81 was added
gene: WDR81 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR81 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
Adult onset neurodegenerative disorder v0.2 WDR73 Rebecca Foulger Added phenotypes Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature for gene: WDR73
Adult onset neurodegenerative disorder v0.2 WDR73 Rebecca Foulger gene: WDR73 was added
gene: WDR73 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: WDR73 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: WDR73 were set to Galloway Mowat Syndrome
Adult onset neurodegenerative disorder v0.2 WDR48 Rebecca Foulger gene: WDR48 was added
gene: WDR48 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: WDR48 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR48 were set to Novarino et al. (2014)
Adult onset neurodegenerative disorder v0.2 WDR45B Rebecca Foulger gene: WDR45B was added
gene: WDR45B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: WDR45B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: WDR45B were set to 21937992; 28503735
Phenotypes for gene: WDR45B were set to profound developmental delay, early-onset refractory epilepsy, progressive spastic quadriplegia and contractures, and brain malformations.
Adult onset neurodegenerative disorder v0.2 WDR45 Rebecca Foulger Added phenotypes Dystonia; beta-propeller protein-associated neurodegeneration for gene: WDR45
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 WASHC5 Rebecca Foulger gene: WASHC5 was added
gene: WASHC5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: WASHC5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: WASHC5 were set to Valdmanis et al. (2007)
Phenotypes for gene: WASHC5 were set to Spastic paraplegia 8, autosomal dominant
Adult onset neurodegenerative disorder v0.2 VRK1 Rebecca Foulger gene: VRK1 was added
gene: VRK1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia 1A (#607596)
Adult onset neurodegenerative disorder v0.2 VPS53 Rebecca Foulger gene: VPS53 was added
gene: VPS53 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS53 were set to 24577744
Phenotypes for gene: VPS53 were set to Pontocerebellar hypoplasia 2E (#615851)
Adult onset neurodegenerative disorder v0.2 VPS37A Rebecca Foulger Added phenotypes Spastic paraplegia 53, autosomal recessive for gene: VPS37A
Adult onset neurodegenerative disorder v0.2 VPS37A Rebecca Foulger gene: VPS37A was added
gene: VPS37A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: VPS37A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS37A were set to Zivony-Elboum et al. (2012)
Phenotypes for gene: VPS37A were set to Dystonia
Adult onset neurodegenerative disorder v0.2 VPS35 Rebecca Foulger gene: VPS35 was added
gene: VPS35 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: VPS35 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VPS35 were set to 27777137; 22517097; 23408866; 26547032; 21763482; 22991136; 21763483; 24854799
Phenotypes for gene: VPS35 were set to Parkinson disease 17, 614203; Parkinson Disease, Dominant; late onset parkinson disease; PARKINSON DISEASE 17; PARK17
Adult onset neurodegenerative disorder v0.2 VPS13D Rebecca Foulger gene: VPS13D was added
gene: VPS13D was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: VPS13D was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VPS13D were set to spastic ataxia
Adult onset neurodegenerative disorder v0.2 VPS13A Rebecca Foulger Added phenotypes Complex parkinsonism; 200150; Choreoacanthocytosis for gene: VPS13A
Adult onset neurodegenerative disorder v0.2 VPS13A Rebecca Foulger gene: VPS13A was added
gene: VPS13A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: VPS13A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: VPS13A were set to 11381253
Phenotypes for gene: VPS13A were set to complex parkinsonism
Adult onset neurodegenerative disorder v0.2 VLDLR Rebecca Foulger gene: VLDLR was added
gene: VLDLR was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v0.2 VEGFA Rebecca Foulger gene: VEGFA was added
gene: VEGFA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: VEGFA was set to Unknown
Adult onset neurodegenerative disorder v0.2 VCP Rebecca Foulger Added phenotypes Amyotrophic lateral sclerosis 14, with or without frontotemporal dementia, 613954 for gene: VCP
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 VAPB Rebecca Foulger gene: VAPB was added
gene: VAPB was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: VAPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: VAPB were set to Amyotrophic lateral sclerosis 8, 608627; Amyotrophic Lateral Sclerosis, Dominant
Adult onset neurodegenerative disorder v0.2 VAMP1 Rebecca Foulger Added phenotypes Spastic ataxia 1, autosomal dominant, 108600 for gene: VAMP1
Adult onset neurodegenerative disorder v0.2 VAMP1 Rebecca Foulger gene: VAMP1 was added
gene: VAMP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: VAMP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: VAMP1 were set to 22958904
Phenotypes for gene: VAMP1 were set to Spastic ataxia 1, autosomal dominant, 108600
Adult onset neurodegenerative disorder v0.2 VAC14 Rebecca Foulger gene: VAC14 was added
gene: VAC14 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: VAC14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: VAC14 were set to Striatonigral degeneration, childhood-onset 617054
Adult onset neurodegenerative disorder v0.2 USP8 Rebecca Foulger gene: USP8 was added
gene: USP8 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: USP8 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: USP8 were set to Novarino et al. (2014)
Adult onset neurodegenerative disorder v0.2 UNC13A Rebecca Foulger gene: UNC13A was added
gene: UNC13A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: UNC13A was set to Unknown
Adult onset neurodegenerative disorder v0.2 UCHL1 Rebecca Foulger Added phenotypes Early onset ataxia and optic neuropathy for gene: UCHL1
Adult onset neurodegenerative disorder 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}
Adult onset neurodegenerative disorder v0.2 UBR4 Rebecca Foulger gene: UBR4 was added
gene: UBR4 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: UBR4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: UBR4 were set to PMID: 23982692
Phenotypes for gene: UBR4 were set to Episodic ataxia
Adult onset neurodegenerative disorder v0.2 UBQLN2 Rebecca Foulger Added phenotypes Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, 300857 for gene: UBQLN2
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 TYROBP Rebecca Foulger gene: TYROBP was added
gene: TYROBP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TYROBP was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TYROBP were set to 15049507
Phenotypes for gene: TYROBP were set to Dementia
Adult onset neurodegenerative disorder 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)
Adult onset neurodegenerative disorder v0.2 TUBB4A Rebecca Foulger Added phenotypes hypomyelinating leukodystrophy 6; Dystonia; Complex parkinsonism; hereditary whispering dysphonia; ?Dystonia 4, torsion, autosomal dominant, 128101 for gene: TUBB4A
Adult onset neurodegenerative disorder v0.2 TUBB4A Rebecca Foulger Added phenotypes Dystonia 4, torsion, autosomal dominant 128101; ataxia; Leukodystrophy, hypomyelinating, 6 612438 for gene: TUBB4A
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 TUBB4A Rebecca Foulger gene: TUBB4A was added
gene: TUBB4A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TUBB4A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TUBB4A were set to PMID: 25497598; 27809427
Phenotypes for gene: TUBB4A were set to Dystonia; hereditary whispering dysphonia; ?Dystonia 4, torsion, autosomal dominant, 128101
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 TTC19 Rebecca Foulger gene: TTC19 was added
gene: TTC19 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TTC19 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TTC19 were set to Nuclear type mitochondrial complex III deficiency (#615157)
Adult onset neurodegenerative disorder v0.2 TTBK2 Rebecca Foulger gene: TTBK2 was added
gene: TTBK2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TTBK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TTBK2 were set to Spinocerebellar ataxia 11
Adult onset neurodegenerative disorder v0.2 TSEN54 Rebecca Foulger gene: TSEN54 was added
gene: TSEN54 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753)
Adult onset neurodegenerative disorder v0.2 TSEN34 Rebecca Foulger gene: TSEN34 was added
gene: TSEN34 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: TSEN34 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN34 were set to Pontocerebellar hypoplasia 2C (612390)
Adult onset neurodegenerative disorder v0.2 TSEN2 Rebecca Foulger gene: TSEN2 was added
gene: TSEN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TSEN2 were set to Pontocerebellar hypoplasia 2B (612389)
Adult onset neurodegenerative disorder v0.2 TREX1 Rebecca Foulger gene: TREX1 was added
gene: TREX1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: TREX1 was set to Unknown
Phenotypes for gene: TREX1 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 TREM2 Rebecca Foulger Added phenotypes Dementia for gene: TREM2
Adult onset neurodegenerative disorder v0.2 TREM2 Rebecca Foulger gene: TREM2 was added
gene: TREM2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: TREM2 was set to Unknown
Phenotypes for gene: TREM2 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 TPP1 Rebecca Foulger gene: TPP1 was added
gene: TPP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: TPP1 were set to Autosomal recessive spinocerebellar ataxia 7 (#607998); Neuronal ceroid lipfuscinosis 7 (204500)
Adult onset neurodegenerative disorder v0.2 TPK1 Rebecca Foulger gene: TPK1 was added
gene: TPK1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: TPK1 was set to Unknown
Phenotypes for gene: TPK1 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 TOR1A Rebecca Foulger Added phenotypes primary torsion dystonia (DYT1), early-onset isolated dystonia; Dystonia-1, torsion, 128100; Autosomal dominant or sporadic dystonia (DYT1); Early-Onset Primary Dystonia for gene: TOR1A
Adult onset neurodegenerative disorder v0.2 TOR1A Rebecca Foulger gene: TOR1A was added
gene: TOR1A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TOR1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TOR1A were set to 17503336; 16537570; 11523564; 9288096; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 20301665
Phenotypes for gene: TOR1A were set to Dystonia-1, torsion, 128100; Autosomal dominant or sporadic dystonia (DYT1); Early-Onset Primary Dystonia
Adult onset neurodegenerative disorder v0.2 TMEM240 Rebecca Foulger gene: TMEM240 was added
gene: TMEM240 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TMEM240 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TMEM240 were set to Spinocerebellar ataxia 21 (#616101)
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 THAP1 Rebecca Foulger Added phenotypes Dystonia; Dystonia 6, torsion, 602629; DYT6 for gene: THAP1
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 TGM6 Rebecca Foulger gene: TGM6 was added
gene: TGM6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TGM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TGM6 were set to Spinocerebellar ataxia 35
Adult onset neurodegenerative disorder v0.2 TFG Rebecca Foulger gene: TFG was added
gene: TFG was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: TFG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TFG were set to Beetz et al. (2013)
Adult onset neurodegenerative disorder v0.2 TECPR2 Rebecca Foulger gene: TECPR2 was added
gene: TECPR2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: TECPR2 were set to 23176824; 26542466
Phenotypes for gene: TECPR2 were set to Spastic paraplegia 49, autosomal recessive, 615031
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 TBP Rebecca Foulger Added phenotypes Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600 for gene: TBP
Adult onset neurodegenerative disorder v0.2 TBP Rebecca Foulger gene: TBP was added
gene: TBP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: TBP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: TBP were set to Spinocerebellar ataxia 17, 607136; {Parkinson disease, susceptibility to}, 168600
Adult onset neurodegenerative disorder v0.2 TBK1 Rebecca Foulger Added phenotypes fronto-temporal dementia; Amyotrophic lateral sclerosis for gene: TBK1
Adult onset neurodegenerative disorder v0.2 TBK1 Rebecca Foulger gene: TBK1 was added
gene: TBK1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: TBK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: TBK1 were set to 26350399; 25803835; 26581300; 26476236; 25700176; 27260353
Phenotypes for gene: TBK1 were set to ALS; FTLD
Adult onset neurodegenerative disorder v0.2 TARDBP Rebecca Foulger Added phenotypes Frontotemporal Dementia for gene: TARDBP
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 TAF1 Rebecca Foulger Added phenotypes (NB complex mutation); Dystonia-Parkinsonism, X-linked, 314250 for gene: TAF1
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 SYT14 Rebecca Foulger gene: SYT14 was added
gene: SYT14 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SYT14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYT14 were set to Spinocerebellarataxia,autosomalrecessive11,614229
Adult onset neurodegenerative disorder v0.2 SYNJ1 Rebecca Foulger Added phenotypes Parkinson disease 20, early-onset, 615530; juvenile Parkinsonism; Early Onset Complex Disease for gene: SYNJ1
Adult onset neurodegenerative disorder v0.2 SYNJ1 Rebecca Foulger gene: SYNJ1 was added
gene: SYNJ1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SYNJ1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SYNJ1 were set to 23804577; 23804563; 27435091; 26149920; 27496670
Phenotypes for gene: SYNJ1 were set to juvenile Parkinsonism; Parkinson disease 20, early-onset
Adult onset neurodegenerative disorder v0.2 SYNE1 Rebecca Foulger gene: SYNE1 was added
gene: SYNE1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SYNE1 were set to Cerebellar Ataxia; Spinocerebellar ataxia, autosomal recessive 8
Adult onset neurodegenerative disorder v0.2 SUOX Rebecca Foulger gene: SUOX was added
gene: SUOX was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SUOX was set to Unknown
Phenotypes for gene: SUOX were set to Dystonia
Adult onset neurodegenerative disorder v0.2 SUCLA2 Rebecca Foulger gene: SUCLA2 was added
gene: SUCLA2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SUCLA2 was set to Unknown
Phenotypes for gene: SUCLA2 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 STUB1 Rebecca Foulger gene: STUB1 was added
gene: STUB1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: STUB1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: STUB1 were set to Spinocerebellar ataxia, autosomal recessive 16
Adult onset neurodegenerative disorder v0.2 SRD5A3 Rebecca Foulger gene: SRD5A3 was added
gene: SRD5A3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 SPR Rebecca Foulger Added phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716; paediatric form of dopa responsive dystonia; Dopa-Responsive Dystonia for gene: SPR
Adult onset neurodegenerative disorder v0.2 SPR Rebecca Foulger Added phenotypes Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 for gene: SPR
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 SPG7 Rebecca Foulger gene: SPG7 was added
gene: SPG7 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SPG7 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG7 were set to PMID: 25681447; Casari et al (1998)
Phenotypes for gene: SPG7 were set to Spastic paraplegia 7, autosomal recessive
Adult onset neurodegenerative disorder v0.2 SPG21 Rebecca Foulger gene: SPG21 was added
gene: SPG21 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SPG21 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG21 were set to Simpson et al. (2003)
Phenotypes for gene: SPG21 were set to Spastic Paraplegia, Recessive
Adult onset neurodegenerative disorder v0.2 SPG11 Rebecca Foulger Added phenotypes early onset parkinsonism, levo dopa responsve; Complex parkinsonism; hereditary spastic paraparesis; Early Onset Complex Disease for gene: SPG11
Adult onset neurodegenerative disorder v0.2 SPG11 Rebecca Foulger gene: SPG11 was added
gene: SPG11 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPG11 were set to 19224311; 27820618; Stevanin et al. (2007); 21381113
Phenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive
Adult onset neurodegenerative disorder v0.2 SPAST Rebecca Foulger gene: SPAST was added
gene: SPAST was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SPAST was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SPAST were set to Hazan et al (1999)
Phenotypes for gene: SPAST were set to Spastic paraplegia 4, autosomal dominant
Adult onset neurodegenerative disorder v0.2 SPART Rebecca Foulger gene: SPART was added
gene: SPART was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SPART was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SPART were set to Patel et al. (2002
Adult onset neurodegenerative disorder v0.2 SOD1 Rebecca Foulger gene: SOD1 was added
gene: SOD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SOD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SOD1 were set to 23687121
Phenotypes for gene: SOD1 were set to Amyotrophic lateral sclerosis 1, 105400; amyotrophic lateral sclerosis; Amyotrophic Lateral Sclerosis, Dominant
Adult onset neurodegenerative disorder v0.2 SNX14 Rebecca Foulger gene: SNX14 was added
gene: SNX14 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SNX14 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNX14 were set to Autosomal recessive spinocerebellar ataxia (#616354)
Adult onset neurodegenerative disorder v0.2 SNCB Rebecca Foulger gene: SNCB was added
gene: SNCB was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SNCB was set to Unknown
Phenotypes for gene: SNCB were set to Dementia, Lewy body, 127750
Adult onset neurodegenerative disorder v0.2 SNCAIP Rebecca Foulger gene: SNCAIP was added
gene: SNCAIP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SNCAIP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SNCAIP were set to Parkinson Disease, Dominant/Recessive
Adult onset neurodegenerative disorder v0.2 SNCA Rebecca Foulger Added phenotypes Parkinson disease 4, 605543 for gene: SNCA
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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)
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 SLC6A3 Rebecca Foulger Added phenotypes Parkinsonism-dystonia, infantile, 613135; {Nicotine dependence, protection against}, 188890 for gene: SLC6A3
Adult onset neurodegenerative disorder v0.2 SLC6A3 Rebecca Foulger gene: SLC6A3 was added
gene: SLC6A3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC6A3 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: SLC6A3 were set to PMID: 24613933
Phenotypes for gene: SLC6A3 were set to Parkinsonism-dystonia, infantile, 613135
Adult onset neurodegenerative disorder v0.2 SLC52A3 Rebecca Foulger gene: SLC52A3 was added
gene: SLC52A3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC52A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC52A3 were set to Fazio-Londe disease; Brown-Vialetto-Van Laere syndrome 1
Adult onset neurodegenerative disorder v0.2 SLC52A2 Rebecca Foulger gene: SLC52A2 was added
gene: SLC52A2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2
Adult onset neurodegenerative disorder v0.2 SLC52A1 Rebecca Foulger gene: SLC52A1 was added
gene: SLC52A1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SLC52A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: SLC52A1 were set to Riboflavin deficiency (condition resembling childhood-onset motor neurone disease)
Adult onset neurodegenerative disorder v0.2 SLC46A1 Rebecca Foulger gene: SLC46A1 was added
gene: SLC46A1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SLC46A1 was set to Unknown
Phenotypes for gene: SLC46A1 were set to Dystonia
Adult onset neurodegenerative disorder 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)
Adult onset neurodegenerative disorder v0.2 SLC39A14 Rebecca Foulger Added phenotypes Hypermanganesemia with dystonia 2 617013 for gene: SLC39A14
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 SLC33A1 Rebecca Foulger gene: SLC33A1 was added
gene: SLC33A1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SLC33A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC33A1 were set to Lin et al. (2008)
Phenotypes for gene: SLC33A1 were set to Spastic paraplegia 42, autosomal dominant,
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 SLC2A1 Rebecca Foulger Added phenotypes GLUT1 deficiency syndrome 1, infantile onset, severe; Dystonia; GLUT1 deficiency syndrome 2, childhood onset; GLUT1 deficiency syndrome 1, 606777; GLUT1 deficiency syndrome 1; GLUT1 deficiency syndrome 2 for gene: SLC2A1
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 SLC20A2 Rebecca Foulger gene: SLC20A2 was added
gene: SLC20A2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SLC20A2 was set to Unknown
Phenotypes for gene: SLC20A2 were set to Dystonia
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 SLC1A3 Rebecca Foulger Added phenotypes Episodic ataxia, type 6, for gene: SLC1A3
Adult onset neurodegenerative disorder v0.2 SLC1A3 Rebecca Foulger gene: SLC1A3 was added
gene: SLC1A3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SLC1A3 were set to 16116111; 27829685; 19139306
Phenotypes for gene: SLC1A3 were set to EPISODIC ATAXIA, TYPE 6
Adult onset neurodegenerative disorder v0.2 SLC19A3 Rebecca Foulger gene: SLC19A3 was added
gene: SLC19A3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SLC19A3 was set to Unknown
Phenotypes for gene: SLC19A3 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 SLC16A2 Rebecca Foulger gene: SLC16A2 was added
gene: SLC16A2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: SLC16A2 were set to Friesema et al. (2003)
Adult onset neurodegenerative disorder v0.2 SIL1 Rebecca Foulger gene: SIL1 was added
gene: SIL1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SIL1 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 SGCE Rebecca Foulger Added phenotypes Myoclonus dystonia syndrome; Myoclonus-Dystonia; maternally imprinted Dystonia-11, myoclonic, 159900 for gene: SGCE
Adult onset neurodegenerative disorder v0.2 SGCE Rebecca Foulger gene: SGCE was added
gene: SGCE was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SGCE was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)
Publications for gene: SGCE were set to 11528394; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 12325078
Phenotypes for gene: SGCE were set to Myoclonus dystonia syndrome; Myoclonus-Dystonia; maternally imprinted Dystonia-11, myoclonic, 159900
Adult onset neurodegenerative disorder v0.2 SETX Rebecca Foulger Added phenotypes Amyotrophic lateral sclerosis 4, juvenile 602433 for gene: SETX
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 SEPSECS Rebecca Foulger gene: SEPSECS was added
gene: SEPSECS was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D (613811)
Adult onset neurodegenerative disorder v0.2 SDHAF1 Rebecca Foulger gene: SDHAF1 was added
gene: SDHAF1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SDHAF1 was set to Unknown
Phenotypes for gene: SDHAF1 were set to Dystonia
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 SCN8A Rebecca Foulger Added phenotypes Cognitive impairment with or without cerebellar ataxia, 614306 for gene: SCN8A
Adult onset neurodegenerative disorder v0.2 SCN8A Rebecca Foulger gene: SCN8A was added
gene: SCN8A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: SCN8A were set to 26677014
Phenotypes for gene: SCN8A were set to epilepsy; paroxysmal kinesigenic dyskinesias
Adult onset neurodegenerative disorder v0.2 SCN1A Rebecca Foulger gene: SCN1A was added
gene: SCN1A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SCN1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: SCN1A were set to 16054936; 19332696
Phenotypes for gene: SCN1A were set to several epilepsy, convulsion and migraine disorders.; familial hemiplegic migraine 3; Dravet syndrome
Adult onset neurodegenerative disorder v0.2 SAR1B Rebecca Foulger gene: SAR1B was added
gene: SAR1B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SAR1B were set to Chylomicron retention disease 246700
Adult onset neurodegenerative disorder v0.2 SAMHD1 Rebecca Foulger gene: SAMHD1 was added
gene: SAMHD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: SAMHD1 was set to Unknown
Phenotypes for gene: SAMHD1 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 SACS Rebecca Foulger Added phenotypes Spastic ataxia, Charlevoix-Saguenay type for gene: SACS
Adult onset neurodegenerative disorder v0.2 SACS Rebecca Foulger gene: SACS was added
gene: SACS was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type
Adult onset neurodegenerative disorder v0.2 RUBCN Rebecca Foulger gene: RUBCN was added
gene: RUBCN was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: RUBCN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RUBCN were set to PMID: 20826435
Adult onset neurodegenerative disorder v0.2 RTN2 Rebecca Foulger gene: RTN2 was added
gene: RTN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: RTN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: RTN2 were set to Montenegro et al. (2012)
Phenotypes for gene: RTN2 were set to Spastic paraplegia 12, autosomal dominant
Adult onset neurodegenerative disorder v0.2 RNF216 Rebecca Foulger gene: RNF216 was added
gene: RNF216 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: RNF216 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RNF216 were set to Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
Adult onset neurodegenerative disorder v0.2 RNF170 Rebecca Foulger gene: RNF170 was added
gene: RNF170 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: RNF170 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: RNF170 were set to Ataxia, sensory, 1, autosomal dominant
Adult onset neurodegenerative disorder v0.2 RNASEH2C Rebecca Foulger gene: RNASEH2C was added
gene: RNASEH2C was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: RNASEH2C was set to Unknown
Phenotypes for gene: RNASEH2C were set to Dystonia
Adult onset neurodegenerative disorder v0.2 RNASEH2B Rebecca Foulger gene: RNASEH2B was added
gene: RNASEH2B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: RNASEH2B was set to Unknown
Phenotypes for gene: RNASEH2B were set to Dystonia
Adult onset neurodegenerative disorder v0.2 RNASEH2A Rebecca Foulger gene: RNASEH2A was added
gene: RNASEH2A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: RNASEH2A was set to Unknown
Phenotypes for gene: RNASEH2A were set to Dystonia
Adult onset neurodegenerative disorder v0.2 RELN Rebecca Foulger gene: RELN was added
gene: RELN was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: RELN was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 REEP1 Rebecca Foulger gene: REEP1 was added
gene: REEP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: REEP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: REEP1 were set to Zuchner et al. (2006)
Phenotypes for gene: REEP1 were set to Spastic paraplegia 31, autosomal dominant
Adult onset neurodegenerative disorder v0.2 RARS2 Rebecca Foulger gene: RARS2 was added
gene: RARS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: RARS2 were set to epilepsy; Pontocerebellar hypoplasia
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 QDPR Rebecca Foulger gene: QDPR was added
gene: QDPR was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: QDPR was set to Unknown
Phenotypes for gene: QDPR were set to Dystonia
Adult onset neurodegenerative disorder v0.2 PTS Rebecca Foulger gene: PTS was added
gene: PTS was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: PTS was set to Unknown
Phenotypes for gene: PTS were set to Dystonia
Adult onset neurodegenerative disorder v0.2 PTEN Rebecca Foulger gene: PTEN was added
gene: PTEN was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: PTEN was set to Unknown
Phenotypes for gene: PTEN were set to Dystonia
Adult onset neurodegenerative disorder v0.2 PSEN2 Rebecca Foulger gene: PSEN2 was added
gene: PSEN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PSEN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PSEN2 were set to 22503161; 23028126
Phenotypes for gene: PSEN2 were set to Dementia
Adult onset neurodegenerative disorder v0.2 PSEN1 Rebecca Foulger Added phenotypes Dystonia for gene: PSEN1
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 PRNP Rebecca Foulger Added phenotypes Clinical syndrome Prion disease; Dementia for gene: PRNP
Adult onset neurodegenerative disorder v0.2 PRNP Rebecca Foulger gene: PRNP was added
gene: PRNP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PRNP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: PRNP were set to 20583301; 26791950
Phenotypes for gene: PRNP were set to Creutzfeldt-Jakob disease; Autosomal Dominant Ataxia; Gerstmann-Straussler disease; Huntington disease-like 1; Insomnia, fatal familial
Adult onset neurodegenerative disorder v0.2 PRKRA Rebecca Foulger Added phenotypes Dystonia; Dystonia 16, 612067; early-Onset Generalized dystonia-parkinsonism (DYT16), non-responsive to levo-dopa for gene: PRKRA
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 PRKN Rebecca Foulger Added phenotypes Dystonia; Parkinson disease, juvenile, type 2; juvenile parkinsonism/dystonia for gene: PRKN
Adult onset neurodegenerative disorder v0.2 PRKN Rebecca Foulger gene: PRKN was added
gene: PRKN was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PRKN was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PRKN were set to PMID: 22956510
Phenotypes for gene: PRKN were set to Parkinson Disease 2, Autosomal Recessive Juvenile; Parkinson Disease, Juvenile
Adult onset neurodegenerative disorder v0.2 PRKCG Rebecca Foulger gene: PRKCG was added
gene: PRKCG was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PRKCG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PRKCG were set to Spinocerebellar ataxia 14
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 PPP2R2B Rebecca Foulger gene: PPP2R2B was added
gene: PPP2R2B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: PPP2R2B was set to Unknown
Phenotypes for gene: PPP2R2B were set to Spinocerebellarataxia12,604326
Adult onset neurodegenerative disorder v0.2 POLR3A Rebecca Foulger Added phenotypes Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism; Autosomal Recessive Ataxia for gene: POLR3A
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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)
Adult onset neurodegenerative disorder v0.2 PNPT1 Rebecca Foulger gene: PNPT1 was added
gene: PNPT1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: PNPT1 was set to Unknown
Phenotypes for gene: PNPT1 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 PNPLA6 Rebecca Foulger Added phenotypes Spastic paraplegia 39, autosomal recessive for gene: PNPLA6
Adult onset neurodegenerative disorder v0.2 PNPLA6 Rebecca Foulger gene: PNPLA6 was added
gene: PNPLA6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PNPLA6 were set to Rainier et al. (2008)
Phenotypes for gene: PNPLA6 were set to Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470); Oliver-McFarlane syndrome (#603197); Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients
Adult onset neurodegenerative disorder 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)
Adult onset neurodegenerative disorder v0.2 PNKD Rebecca Foulger Added phenotypes Familial Paroxysmal Nonkinesigenic Dyskinesia; Paroxysmal nonkinesigenic dyskinesia, 118800 for gene: PNKD
Adult onset neurodegenerative disorder v0.2 PNKD Rebecca Foulger gene: PNKD was added
gene: PNKD was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PNKD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: PNKD were set to 15262732; 15496428; 15824259; http://www.ncbi.nlm.nih.gov/books/NBK1155/
Phenotypes for gene: PNKD were set to PAROXYSMAL NONKINESIGENIC DYSKINESIA 1
Adult onset neurodegenerative disorder v0.2 PMPCA Rebecca Foulger gene: PMPCA was added
gene: PMPCA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PMPCA was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PMPCA were set to PMID:25808372
Phenotypes for gene: PMPCA were set to Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.
Adult onset neurodegenerative disorder v0.2 PLP1 Rebecca Foulger Added phenotypes Dystonia for gene: PLP1
Adult onset neurodegenerative disorder v0.2 PLP1 Rebecca Foulger gene: PLP1 was added
gene: PLP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: PLP1 were set to Saugier-Veber et al (1994)
Phenotypes for gene: PLP1 were set to Spastic paraplegia 2, X-linked
Adult onset neurodegenerative disorder v0.2 PLA2G6 Rebecca Foulger Added phenotypes PLA2G6-associated neurodegeneration for gene: PLA2G6
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 PINK1 Rebecca Foulger Added phenotypes Parkinson disease 6, early onset, 605909; Parkinson Disease 6, Autosomal Recessive Early-Onset for gene: PINK1
Adult onset neurodegenerative disorder v0.2 PINK1 Rebecca Foulger gene: PINK1 was added
gene: PINK1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PINK1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PINK1 were set to Parkinson disease 6, early onset
Phenotypes for gene: PINK1 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 PIK3R5 Rebecca Foulger gene: PIK3R5 was added
gene: PIK3R5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: PIK3R5 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PIK3R5 were set to Ataxia-oculomotor apraxia 3
Adult onset neurodegenerative disorder v0.2 PGAP1 Rebecca Foulger gene: PGAP1 was added
gene: PGAP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: PGAP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PGAP1 were set to Novarino et al. (2014)
Adult onset neurodegenerative disorder v0.2 PFN1 Rebecca Foulger gene: PFN1 was added
gene: PFN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PFN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PFN1 were set to Amyotrophic lateral sclerosis 18, 614808
Adult onset neurodegenerative disorder v0.2 PEX16 Rebecca Foulger gene: PEX16 was added
gene: PEX16 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PEX16 were set to Zellweger syndrome (614876); Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis
Adult onset neurodegenerative disorder v0.2 PDYN Rebecca Foulger gene: PDYN was added
gene: PDYN was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PDYN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: PDYN were set to Spinocerebellar ataxia 23
Adult onset neurodegenerative disorder v0.2 PDHX Rebecca Foulger gene: PDHX was added
gene: PDHX was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: PDHX was set to Unknown
Phenotypes for gene: PDHX were set to Dystonia
Adult onset neurodegenerative disorder v0.2 PDGFRB Rebecca Foulger gene: PDGFRB was added
gene: PDGFRB was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: PDGFRB was set to Unknown
Phenotypes for gene: PDGFRB were set to Dystonia
Adult onset neurodegenerative disorder 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.
Adult onset neurodegenerative disorder v0.2 PCDH12 Rebecca Foulger Added phenotypes microcephaly; intellectual disability; perithalamic hyperechogenicity; hypothalamic abnormalities; periventricular hyperechogenicity; epilepsy; midbrain abnormalities for gene: PCDH12
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 PAX6 Rebecca Foulger gene: PAX6 was added
gene: PAX6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PAX6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PAX6 were set to Aniridia, Cerebellar Ataxia, And Mental Retardation
Adult onset neurodegenerative disorder v0.2 PAX2 Rebecca Foulger gene: PAX2 was added
gene: PAX2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: PAX2 was set to Unknown
Phenotypes for gene: PAX2 were set to Ataxia,spastic2,autosomalrecessive(2)
Adult onset neurodegenerative disorder v0.2 PARK7 Rebecca Foulger Added phenotypes Parkinson disease 7, autosomal recessive early-onset for gene: PARK7
Adult onset neurodegenerative disorder v0.2 PARK7 Rebecca Foulger gene: PARK7 was added
gene: PARK7 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: PARK7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: PARK7 were set to Parkinson disease 7 autosomal recessive early-onset; 606324
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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)
Adult onset neurodegenerative disorder v0.2 OPA3 Rebecca Foulger Added phenotypes Costeff syndrome; 3-methylglutaconic aciduria, type III, 258501 for gene: OPA3
Adult onset neurodegenerative disorder v0.2 OPA3 Rebecca Foulger Added phenotypes Costeff syndrome; 3-methylglutaconic aciduria, type III, 258501 for gene: OPA3
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 NT5C2 Rebecca Foulger gene: NT5C2 was added
gene: NT5C2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NT5C2 were set to 28884889; 24482476; 29123918; 28327087
Phenotypes for gene: NT5C2 were set to Spasticparaplegia45, autosomal recessive 613162
Adult onset neurodegenerative disorder v0.2 NR4A2 Rebecca Foulger gene: NR4A2 was added
gene: NR4A2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: NR4A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NR4A2 were set to 25543265; 12827450; 12496759; 24126627; 27012974; 15184637; 15390059; 15276233
Phenotypes for gene: NR4A2 were set to Parkinson Disease, Dominant/Recessive (susceptibility to)
Adult onset neurodegenerative disorder v0.2 NPC2 Rebecca Foulger Added phenotypes Dystonia for gene: NPC2
Adult onset neurodegenerative disorder v0.2 NPC2 Rebecca Foulger gene: NPC2 was added
gene: NPC2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC2 were set to Niemann-Pick disease type C2 (#607625)
Adult onset neurodegenerative disorder v0.2 NPC1 Rebecca Foulger gene: NPC1 was added
gene: NPC1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NPC1 were set to Niemann-Pick disease types C1 and D (#257220)
Adult onset neurodegenerative disorder v0.2 NOTCH3 Rebecca Foulger gene: NOTCH3 was added
gene: NOTCH3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: NOTCH3 were set to Dementia
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 NKX6-2 Rebecca Foulger Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 for gene: NKX6-2
Adult onset neurodegenerative disorder v0.2 NKX6-2 Rebecca Foulger Added phenotypes Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 for gene: NKX6-2
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 NIPA1 Rebecca Foulger gene: NIPA1 was added
gene: NIPA1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: NIPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NIPA1 were set to Rainier et al. (2003)
Phenotypes for gene: NIPA1 were set to Spastic paraplegia 6, autosomal dominant; Spasticparaplegia6,autosomaldominant,600363
Adult onset neurodegenerative disorder v0.2 NHLRC1 Rebecca Foulger Added phenotypes Epilepsy, progressive myoclonic 2B (Lafora) 254780 for gene: NHLRC1
Adult onset neurodegenerative disorder v0.2 NHLRC1 Rebecca Foulger gene: NHLRC1 was added
gene: NHLRC1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NHLRC1 were set to 12958597; 15781812
Phenotypes for gene: NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora) 254780
Adult onset neurodegenerative disorder v0.2 NEFH Rebecca Foulger gene: NEFH was added
gene: NEFH was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: NEFH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: NEFH were set to PMID: 24488689
Phenotypes for gene: NEFH were set to susceptibility to amyotrophic lateral sclerosis (ALS)
Adult onset neurodegenerative disorder v0.2 NDUFA12 Rebecca Foulger gene: NDUFA12 was added
gene: NDUFA12 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: NDUFA12 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: NDUFA12 were set to 21617257
Phenotypes for gene: NDUFA12 were set to Leigh syndrome due to mitochondrial complex 1 deficiency 256000
Adult onset neurodegenerative disorder 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)
Adult onset neurodegenerative disorder v0.2 MVK Rebecca Foulger gene: MVK was added
gene: MVK was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: MVK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MVK were set to 24896178; 26503795
Phenotypes for gene: MVK were set to Mevalonic aciduria 610377
Adult onset neurodegenerative disorder v0.2 MTTP Rebecca Foulger gene: MTTP was added
gene: MTTP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTTP were set to Abetalipoproteinemia, 200100
Adult onset neurodegenerative disorder v0.2 MTPAP Rebecca Foulger Added phenotypes Ataxia, spastic, 4, for gene: MTPAP
Adult onset neurodegenerative disorder v0.2 MTPAP Rebecca Foulger gene: MTPAP was added
gene: MTPAP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: MTPAP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MTPAP were set to Ataxia, spastic, 4; Spastic ataxia 4, autosomal recessive
Adult onset neurodegenerative disorder v0.2 MT-ND6 Rebecca Foulger gene: MT-ND6 was added
gene: MT-ND6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene gene: MT-ND6 was set to MITOCHONDRIAL
Phenotypes for gene: MT-ND6 were set to Leber Optic Atrophy And Dystonia
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 MRE11 Rebecca Foulger gene: MRE11 was added
gene: MRE11 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: MRE11 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MRE11 were set to Ataxia-telangiectasia-like disorder; Ataxia-Telangiectasia-Like Disorder
Adult onset neurodegenerative disorder v0.2 MR1 Rebecca Foulger gene: MR1 was added
gene: MR1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: MR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: MR1 were set to Dystonia; Paroxysmal/Episodic dystonia
Adult onset neurodegenerative disorder v0.2 MPV17 Rebecca Foulger gene: MPV17 was added
gene: MPV17 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: MPV17 was set to Unknown
Phenotypes for gene: MPV17 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 MMADHC Rebecca Foulger gene: MMADHC was added
gene: MMADHC was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: MMADHC was set to Unknown
Phenotypes for gene: MMADHC were set to Dystonia
Adult onset neurodegenerative disorder 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)
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 MCOLN1 Rebecca Foulger gene: MCOLN1 was added
gene: MCOLN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: MCOLN1 was set to Unknown
Phenotypes for gene: MCOLN1 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 MAT1A Rebecca Foulger gene: MAT1A was added
gene: MAT1A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: MAT1A was set to Unknown
Phenotypes for gene: MAT1A were set to Dystonia
Adult onset neurodegenerative disorder v0.2 MARS2 Rebecca Foulger Added phenotypes Spastic ataxia 3, autosomal recessive for gene: MARS2
Adult onset neurodegenerative disorder v0.2 MARS2 Rebecca Foulger gene: MARS2 was added
gene: MARS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: MARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MARS2 were set to PubMed: 22448145
Phenotypes for gene: MARS2 were set to Spastic ataxia 3, autosomal recessive
Adult onset neurodegenerative disorder v0.2 MARS Rebecca Foulger gene: MARS was added
gene: MARS was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: MARS was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MARS were set to Novarino et al. (2014)
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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)
Adult onset neurodegenerative disorder v0.2 MAG Rebecca Foulger gene: MAG was added
gene: MAG was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: MAG was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: MAG were set to 24482476; 26179919
Phenotypes for gene: MAG were set to Spastic paraplegia 75, autosomal recessive, 616680
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 LRRK2 Rebecca Foulger gene: LRRK2 was added
gene: LRRK2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: LRRK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: LRRK2 were set to 28395804; 28395803; 25391693; 27090875; 28395805; 28395802
Phenotypes for gene: LRRK2 were set to Parkinson Disease 8, Autosomal Dominant; Autosomal dominant Parkinson's disease; Parkinson Disease, Dominant; PARKINSON DISEASE 8, AUTOSOMAL DOMINANT; LRRK2 G2019S mutation; Parkinson disease 8, 607060
Adult onset neurodegenerative disorder v0.2 L2HGDH Rebecca Foulger gene: L2HGDH was added
gene: L2HGDH was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: L2HGDH was set to Unknown
Phenotypes for gene: L2HGDH were set to Dystonia
Adult onset neurodegenerative disorder v0.2 L1CAM Rebecca Foulger gene: L1CAM was added
gene: L1CAM was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: L1CAM were set to PMID: 7920659
Phenotypes for gene: L1CAM were set to X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia
Adult onset neurodegenerative disorder v0.2 KMT2B Rebecca Foulger gene: KMT2B was added
gene: KMT2B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: KMT2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KMT2B were set to 27992417
Phenotypes for gene: KMT2B were set to early-onset dystonia
Adult onset neurodegenerative disorder v0.2 KIF5A Rebecca Foulger gene: KIF5A was added
gene: KIF5A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: KIF5A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: KIF5A were set to Reid et al. (2002)
Phenotypes for gene: KIF5A were set to Spastic paraplegia 10, autosomal dominant
Adult onset neurodegenerative disorder v0.2 KIF1C Rebecca Foulger Added phenotypes Spastic ataxia 2,autosomal recessive for gene: KIF1C
Adult onset neurodegenerative disorder v0.2 KIF1C Rebecca Foulger gene: KIF1C was added
gene: KIF1C was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: KIF1C was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF1C were set to 24482476; 17273843; 24319291
Phenotypes for gene: KIF1C were set to Spastic ataxia 2,autosomal recessive
Adult onset neurodegenerative disorder v0.2 KIF1A Rebecca Foulger gene: KIF1A was added
gene: KIF1A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: KIF1A were set to Erlich et al. (2011)
Phenotypes for gene: KIF1A were set to Spastic paraplegia 30, autosomal recessive
Adult onset neurodegenerative disorder v0.2 KIDINS220 Rebecca Foulger gene: KIDINS220 was added
gene: KIDINS220 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: KIDINS220 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity 617296
Adult onset neurodegenerative disorder v0.2 KCNQ3 Rebecca Foulger gene: KCNQ3 was added
gene: KCNQ3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: KCNQ3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ3 were set to Seizures, benign neonatal, type 2, 121201
Adult onset neurodegenerative disorder v0.2 KCNQ2 Rebecca Foulger Added phenotypes Dystonia for gene: KCNQ2
Adult onset neurodegenerative disorder v0.2 KCNQ2 Rebecca Foulger gene: KCNQ2 was added
gene: KCNQ2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCNQ2 were set to Myokymia, 121200
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 KCNJ10 Rebecca Foulger gene: KCNJ10 was added
gene: KCNJ10 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: KCNJ10 were set to Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome
Adult onset neurodegenerative disorder v0.2 KCND3 Rebecca Foulger gene: KCND3 was added
gene: KCND3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: KCND3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: KCND3 were set to Spinocerebellarataxia19,607346
Adult onset neurodegenerative disorder v0.2 KCNC3 Rebecca Foulger gene: KCNC3 was added
gene: KCNC3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: KCNC3 were set to Spinocerebellar ataxia 13
Adult onset neurodegenerative disorder v0.2 KCNA1 Rebecca Foulger Added phenotypes Episodic ataxia/myokymia syndrome, for gene: KCNA1
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 JPH3 Rebecca Foulger Added phenotypes Huntington disease-like 2 606438 for gene: JPH3
Adult onset neurodegenerative disorder v0.2 JPH3 Rebecca Foulger gene: JPH3 was added
gene: JPH3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: JPH3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: JPH3 were set to Huntington disease-like 2 606438
Adult onset neurodegenerative disorder v0.2 ITPR1 Rebecca Foulger gene: ITPR1 was added
gene: ITPR1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ITPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ITPR1 were set to Spinocerebellar ataxia 29; Spinocerebellar ataxia 15
Adult onset neurodegenerative disorder v0.2 ITM2B Rebecca Foulger gene: ITM2B was added
gene: ITM2B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ITM2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ITM2B were set to Dementia, familial British, 176500
Adult onset neurodegenerative disorder v0.2 IPPK Rebecca Foulger gene: IPPK was added
gene: IPPK was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: IPPK was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: IPPK were set to Early Onset Complex Disease
Adult onset neurodegenerative disorder v0.2 IBA57 Rebecca Foulger gene: IBA57 was added
gene: IBA57 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: IBA57 were set to 25609768; 30258207
Phenotypes for gene: IBA57 were set to ?Spastic paraplegia 74, autosomal recessive, 616451
Adult onset neurodegenerative disorder v0.2 HTT Rebecca Foulger Added phenotypes Huntingtons disease (HD) for gene: HTT
Adult onset neurodegenerative disorder v0.2 HTT Rebecca Foulger gene: HTT was added
gene: HTT was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: HTT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: HTT were set to Huntington disease 143100
Adult onset neurodegenerative disorder v0.2 HTRA2 Rebecca Foulger Added phenotypes Parkinson Disease, Dominant; Parkinson disease 13, 610297 for gene: HTRA2
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 HTRA1 Rebecca Foulger gene: HTRA1 was added
gene: HTRA1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: HTRA1 was set to Unknown
Phenotypes for gene: HTRA1 were set to Dementia
Adult onset neurodegenerative disorder v0.2 HSPD1 Rebecca Foulger gene: HSPD1 was added
gene: HSPD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: HSPD1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: HSPD1 were set to Hansen et al. (2002)
Phenotypes for gene: HSPD1 were set to Spastic paraplegia 13, autosomal dominant
Adult onset neurodegenerative disorder v0.2 HPRT1 Rebecca Foulger gene: HPRT1 was added
gene: HPRT1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: HPRT1 was set to Unknown
Phenotypes for gene: HPRT1 were set to Dystonia
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 HNRNPA1 Rebecca Foulger Added phenotypes ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal for gene: HNRNPA1
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 HFE Rebecca Foulger gene: HFE was added
gene: HFE was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: HFE was set to Unknown
Adult onset neurodegenerative disorder v0.2 HEXB Rebecca Foulger gene: HEXB was added
gene: HEXB was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v0.2 HEXA Rebecca Foulger gene: HEXA was added
gene: HEXA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 GRN Rebecca Foulger gene: GRN was added
gene: GRN was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: GRN was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GRN were set to 20301545; 17923627
Phenotypes for gene: GRN were set to Frontotemporal Dementia; Clinical syndrome FTLD (Frontotemporal lobar degeneration)
Adult onset neurodegenerative disorder v0.2 GRM1 Rebecca Foulger gene: GRM1 was added
gene: GRM1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: GRM1 were set to Spinocerebellar ataxia, autosomal recessive 13
Adult onset neurodegenerative disorder v0.2 GRID2 Rebecca Foulger gene: GRID2 was added
gene: GRID2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: GRID2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GRID2 were set to PMID: 25841024
Phenotypes for gene: GRID2 were set to Rare cases of autosomal dominant inheritance reported by Coutelier et al., 2015.; Autosomal recessive spinocerebellar ataxia 18 (#616204)
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 GOSR2 Rebecca Foulger gene: GOSR2 was added
gene: GOSR2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GOSR2 were set to 24285620; 21549339; 20301317
Phenotypes for gene: GOSR2 were set to Epilepsy, progressive myoclonic 6, 614018
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 GNAL Rebecca Foulger Added phenotypes adult-onset cranio-cervical dystonia; Dystonia 25, 615073 for gene: GNAL
Adult onset neurodegenerative disorder v0.2 GNAL Rebecca Foulger gene: GNAL was added
gene: GNAL was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: GNAL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: GNAL were set to 25847575; 24729450; 24535567; 24408567; 26365774; 26810727; 27093447; 27123488; 23222958; 26506956; 27222887; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 23449625; 23759320; 25382112; 24151159; 26725140
Phenotypes for gene: GNAL were set to Dystonia 25, 615073
Adult onset neurodegenerative disorder v0.2 GLRB Rebecca Foulger gene: GLRB was added
gene: GLRB was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: GLRB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GLRB were set to 23238346; 11929858; 21391991
Phenotypes for gene: GLRB were set to 614619 HYPEREKPLEXIA 2
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 GJC2 Rebecca Foulger Added phenotypes Spastic paraplegia 44, autosomal recessive for gene: GJC2
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 GIGYF2 Rebecca Foulger gene: GIGYF2 was added
gene: GIGYF2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: GIGYF2 was set to Unknown
Publications for gene: GIGYF2 were set to 20044296; 26134514; 18923002; 19279319; 19250854; 19321232; 20060621; 19449032; 201788319; 18358451; 19429085; 20685231; 19482505
Phenotypes for gene: GIGYF2 were set to {Parkinson disease 11}; Susceptibility to Parkinson disease 11, 607688
Adult onset neurodegenerative disorder v0.2 GFAP Rebecca Foulger gene: GFAP was added
gene: GFAP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: GFAP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: GFAP were set to Autosomal Dominant Ataxia; Alexander disease
Adult onset neurodegenerative disorder 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)
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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)
Adult onset neurodegenerative disorder v0.2 GCDH Rebecca Foulger gene: GCDH was added
gene: GCDH was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: GCDH was set to Unknown
Phenotypes for gene: GCDH were set to Dystonia
Adult onset neurodegenerative disorder v0.2 GBA2 Rebecca Foulger gene: GBA2 was added
gene: GBA2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: GBA2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: GBA2 were set to Martin et al. (2013)
Phenotypes for gene: GBA2 were set to Spastic paraplegia 46, autosomal recessive
Adult onset neurodegenerative disorder v0.2 GBA Rebecca Foulger Added phenotypes Gaucher disease, type I, 230800 for gene: GBA
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 GAMT Rebecca Foulger gene: GAMT was added
gene: GAMT was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: GAMT was set to Unknown
Phenotypes for gene: GAMT were set to Dystonia
Adult onset neurodegenerative disorder v0.2 GAD1 Rebecca Foulger gene: GAD1 was added
gene: GAD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: GAD1 was set to Unknown
Phenotypes for gene: GAD1 were set to Cerebralpalsy,spasticquadriplegic,1,603513
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 FUS Rebecca Foulger Added phenotypes Dementia for gene: FUS
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 FTL Rebecca Foulger Added phenotypes Neurodegeneration with brain iron accumulation 3 for gene: FTL
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 FOXRED1 Rebecca Foulger gene: FOXRED1 was added
gene: FOXRED1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: FOXRED1 was set to Unknown
Phenotypes for gene: FOXRED1 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 FOXG1 Rebecca Foulger gene: FOXG1 was added
gene: FOXG1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: FOXG1 was set to Unknown
Phenotypes for gene: FOXG1 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 FOLR1 Rebecca Foulger gene: FOLR1 was added
gene: FOLR1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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,
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 FGF14 Rebecca Foulger gene: FGF14 was added
gene: FGF14 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: FGF14 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: FGF14 were set to Spinocerebellar ataxia 27
Adult onset neurodegenerative disorder v0.2 FBXO7 Rebecca Foulger Added phenotypes Parkinson disease 15, autosomal recessive, 260300; Parkinson Disease, Recessive; parkinsonian-pyramidal syndrome; Early Onset Complex Disease for gene: FBXO7
Adult onset neurodegenerative disorder v0.2 FBXO7 Rebecca Foulger gene: FBXO7 was added
gene: FBXO7 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: FBXO7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: FBXO7 were set to Dystonia; juvenile parkinsonism
Adult onset neurodegenerative disorder v0.2 FASTKD2 Rebecca Foulger gene: FASTKD2 was added
gene: FASTKD2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: FASTKD2 was set to Unknown
Phenotypes for gene: FASTKD2 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 FARS2 Rebecca Foulger gene: FARS2 was added
gene: FARS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: FARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FARS2 were set to 26553276; 29126765; 30250868; 25851414
Phenotypes for gene: FARS2 were set to Spastic paraplegia 77, autosomal recessive, 617046
Adult onset neurodegenerative disorder v0.2 FA2H Rebecca Foulger Added phenotypes Spastic paraplegia 35, autosomal recessive for gene: FA2H
Adult onset neurodegenerative disorder v0.2 FA2H Rebecca Foulger gene: FA2H was added
gene: FA2H was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: FA2H was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: FA2H were set to Edvardson et al. (2008)
Phenotypes for gene: FA2H were set to Dystonia; fatty acid hydroxylase-associated neurodegeneration
Adult onset neurodegenerative disorder v0.2 EXOSC3 Rebecca Foulger gene: EXOSC3 was added
gene: EXOSC3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: EXOSC3 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 ERCC6 Rebecca Foulger gene: ERCC6 was added
gene: ERCC6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ERCC6 was set to Unknown
Phenotypes for gene: ERCC6 were set to Dystonia
Adult onset neurodegenerative disorder v0.2 ERBB4 Rebecca Foulger gene: ERBB4 was added
gene: ERBB4 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ERBB4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ERBB4 were set to Amyotrophic lateral sclerosis 19, 615515
Adult onset neurodegenerative disorder v0.2 EPM2A Rebecca Foulger Added phenotypes Epilepsy, progressive myoclonic 2A (Lafora) 254780 for gene: EPM2A
Adult onset neurodegenerative disorder v0.2 EPM2A Rebecca Foulger gene: EPM2A was added
gene: EPM2A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: EPM2A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: EPM2A were set to 27604308; 10932264; 14722920
Phenotypes for gene: EPM2A were set to Epilepsy, progressive myoclonic 2A (Lafora) 254780
Adult onset neurodegenerative disorder v0.2 ENTPD1 Rebecca Foulger gene: ENTPD1 was added
gene: ENTPD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ENTPD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ENTPD1 were set to Novarino et al. (2014)
Phenotypes for gene: ENTPD1 were set to Spasticparaplegia64,615683
Adult onset neurodegenerative disorder v0.2 ELOVL5 Rebecca Foulger gene: ELOVL5 was added
gene: ELOVL5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ELOVL5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: ELOVL5 were set to Spinocerebellar ataxia 36 (#615957)
Adult onset neurodegenerative disorder v0.2 ELOVL4 Rebecca Foulger gene: ELOVL4 was added
gene: ELOVL4 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ELOVL4 were set to 24566826; 26010696
Phenotypes for gene: ELOVL4 were set to Spinocerebellar ataxia 34 133190
Adult onset neurodegenerative disorder v0.2 EIF4G1 Rebecca Foulger gene: EIF4G1 was added
gene: EIF4G1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: EIF4G1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes for gene: EIF4G1 were set to Parkinsons disease 18, 614251
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 EARS2 Rebecca Foulger gene: EARS2 was added
gene: EARS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: EARS2 was set to Unknown
Phenotypes for gene: EARS2 were set to Dystonia
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 DSTYK Rebecca Foulger gene: DSTYK was added
gene: DSTYK was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: DSTYK was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DSTYK were set to 28157540
Phenotypes for gene: DSTYK were set to Spastic paraplegia 23, 270750
Adult onset neurodegenerative disorder v0.2 DRD5 Rebecca Foulger gene: DRD5 was added
gene: DRD5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: DRD5 was set to Unknown
Publications for gene: DRD5 were set to PMID: 17133500
Phenotypes for gene: DRD5 were set to {Blepharospasm, primary benign}, 606798
Adult onset neurodegenerative disorder v0.2 DRD2 Rebecca Foulger gene: DRD2 was added
gene: DRD2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: DRD2 was set to Unknown
Publications for gene: DRD2 were set to http://www.ncbi.nlm.nih.gov/books/NBK1414/
Phenotypes for gene: DRD2 were set to Dystonia, myoclonic, 159900
Adult onset neurodegenerative disorder v0.2 DNMT1 Rebecca Foulger Added phenotypes Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, for gene: DNMT1
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 DNAJC6 Rebecca Foulger gene: DNAJC6 was added
gene: DNAJC6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: DNAJC6 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DNAJC6 were set to 22563501; 26528954; 23211418; 26703368; 27687717
Phenotypes for gene: DNAJC6 were set to Parkinson disease 19b, early-onset; Parkinson disease 19, juvenile-onset, 615528; Parkinson disease 19a, juvenile-onset
Adult onset neurodegenerative disorder v0.2 DNAJC5 Rebecca Foulger Added phenotypes Ceroid lipofuscinosis, neuronal, 4, Parry type 162350 for gene: DNAJC5
Adult onset neurodegenerative disorder v0.2 DNAJC5 Rebecca Foulger gene: DNAJC5 was added
gene: DNAJC5 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: DNAJC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DNAJC5 were set to 27604308; 21820099
Phenotypes for gene: DNAJC5 were set to Ceroid lipofuscinosis, neuronal, 4, Parry type 162350
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 DMXL2 Rebecca Foulger gene: DMXL2 was added
gene: DMXL2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: DMXL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DMXL2 were set to 25248098; 22875945; 27657680
Phenotypes for gene: DMXL2 were set to Sensorineural Hearing Loss; ORPHA90636; OMIM:612186
Adult onset neurodegenerative disorder v0.2 DLAT Rebecca Foulger gene: DLAT was added
gene: DLAT was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: DLAT was set to Unknown
Phenotypes for gene: DLAT were set to Dystonia
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 DDHD2 Rebecca Foulger gene: DDHD2 was added
gene: DDHD2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: DDHD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDHD2 were set to Schuurs-Hoeijmakers et al. (2012)
Phenotypes for gene: DDHD2 were set to Spastic paraplegia 54, autosomal recessive
Adult onset neurodegenerative disorder v0.2 DDHD1 Rebecca Foulger gene: DDHD1 was added
gene: DDHD1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: DDHD1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DDHD1 were set to Tesson et al. (2012)
Phenotypes for gene: DDHD1 were set to Spastic paraplegia 28, autosomal recessive
Adult onset neurodegenerative disorder v0.2 DDC Rebecca Foulger gene: DDC was added
gene: DDC was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: DDC was set to Unknown
Phenotypes for gene: DDC were set to Dystonia
Adult onset neurodegenerative disorder v0.2 DCTN1 Rebecca Foulger Added phenotypes Perry syndrome for gene: DCTN1
Adult onset neurodegenerative disorder v0.2 DCTN1 Rebecca Foulger Added phenotypes Neuropathy, distal hereditary motor, type VIIB for gene: DCTN1
Adult onset neurodegenerative disorder v0.2 DCTN1 Rebecca Foulger Added phenotypes Perry syndrome for gene: DCTN1
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 DCAF17 Rebecca Foulger gene: DCAF17 was added
gene: DCAF17 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DCAF17 were set to Dystonia; Woodhouse-Sakati syndrome
Adult onset neurodegenerative disorder v0.2 DARS2 Rebecca Foulger gene: DARS2 was added
gene: DARS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: DARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v0.2 DAB1 Rebecca Foulger gene: DAB1 was added
gene: DAB1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: DAB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: DAB1 were set to 28686858
Phenotypes for gene: DAB1 were set to Spinocerebellar ataxia 37 615945
Adult onset neurodegenerative disorder v0.2 CYP7B1 Rebecca Foulger gene: CYP7B1 was added
gene: CYP7B1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP7B1 were set to Tsaousidou et al. (2008) i
Phenotypes for gene: CYP7B1 were set to Spastic paraplegia 5A, autosomal recessive
Adult onset neurodegenerative disorder v0.2 CYP2U1 Rebecca Foulger Added phenotypes Spastic paraplegia 56, autosomal recessive for gene: CYP2U1
Adult onset neurodegenerative disorder v0.2 CYP2U1 Rebecca Foulger gene: CYP2U1 was added
gene: CYP2U1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CYP2U1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CYP2U1 were set to Tesson et al. (2012)
Phenotypes for gene: CYP2U1 were set to Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients.
Adult onset neurodegenerative disorder v0.2 CYP27A1 Rebecca Foulger Added phenotypes Dystonia for gene: CYP27A1
Adult onset neurodegenerative disorder v0.2 CYP27A1 Rebecca Foulger gene: CYP27A1 was added
gene: CYP27A1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v0.2 CWF19L1 Rebecca Foulger gene: CWF19L1 was added
gene: CWF19L1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CWF19L1 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v0.2 CSTB Rebecca Foulger Added phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 for gene: CSTB
Adult onset neurodegenerative disorder v0.2 CSTB Rebecca Foulger gene: CSTB was added
gene: CSTB was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CSTB was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CSTB were set to 26843564
Phenotypes for gene: CSTB were set to Epilepsy, progressive myoclonic 1A, 254800; microcephaly and severe dyskinesia (26843564)
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 CSF1R Rebecca Foulger gene: CSF1R was added
gene: CSF1R was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CSF1R was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CSF1R were set to 23787135
Phenotypes for gene: CSF1R were set to Dementia
Adult onset neurodegenerative disorder v0.2 CP Rebecca Foulger Added phenotypes Cerebellar ataxia, for gene: CP
Adult onset neurodegenerative disorder v0.2 CP Rebecca Foulger gene: CP was added
gene: CP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CP was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CP were set to Dystonia; Aceruloplasminemia
Adult onset neurodegenerative disorder v0.2 COX20 Rebecca Foulger gene: COX20 was added
gene: COX20 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: COX20 was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v0.2 COQ8A Rebecca Foulger gene: COQ8A was added
gene: COQ8A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: COQ8A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COQ8A were set to Coenzyme Q10 deficiency, Spinocerebellar Ataxia Type
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 CLP1 Rebecca Foulger gene: CLP1 was added
gene: CLP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLP1 were set to Pontocerebellar hypoplasia 10 (#615803)
Adult onset neurodegenerative disorder v0.2 CLN6 Rebecca Foulger gene: CLN6 was added
gene: CLN6 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CLN6 were set to Neuronal ceroid lipofuscinosis 6 (#601780) and adult onset form (#204300)
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 CIZ1 Rebecca Foulger gene: CIZ1 was added
gene: CIZ1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: CIZ1 was set to Unknown
Phenotypes for gene: CIZ1 were set to Dystonia 23, 614860
Adult onset neurodegenerative disorder v0.2 CHMP2B Rebecca Foulger Added phenotypes Dementia, familial, nonspecific, 600795; Amyotrophic lateral sclerosis 17, 614696 for gene: CHMP2B
Adult onset neurodegenerative disorder v0.2 CHMP2B Rebecca Foulger Added phenotypes Frontotemporal dementia and/or amyotrophic lateral sclerosis 1; familial frontotemporal lobar degeneration (ALS17); Dystonia for gene: CHMP2B
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 CHMP1A Rebecca Foulger gene: CHMP1A was added
gene: CHMP1A was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CHMP1A was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CHMP1A were set to Pontocerebellar hypoplasia 8 (#614961)
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 CHCHD10 Rebecca Foulger Added phenotypes ?Myopathy, isolated mitochondrial, autosomal dominant, 616209 for gene: CHCHD10
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 CDK16 Rebecca Foulger gene: CDK16 was added
gene: CDK16 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Amber
Mode of inheritance for gene: CDK16 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Publications for gene: CDK16 were set to 26350204; 25644381
Phenotypes for gene: CDK16 were set to Intellectual disability and spastic paraplegia
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 CCDC88C Rebecca Foulger gene: CCDC88C was added
gene: CCDC88C was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: CCDC88C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: CCDC88C were set to PMID: 25062847
Phenotypes for gene: CCDC88C were set to autosomal dominant spinocerebellar ataxia
Adult onset neurodegenerative disorder 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)
Adult onset neurodegenerative disorder v0.2 CAPN1 Rebecca Foulger gene: CAPN1 was added
gene: CAPN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CAPN1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: CAPN1 were set to Spastic paraplegia 76 autosomal recessive 616907
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 CACNB4 Rebecca Foulger Added phenotypes Episodic ataxia, type 5; Episodic Ataxia for gene: CACNB4
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 CACNA1G Rebecca Foulger gene: CACNA1G was added
gene: CACNA1G was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: CACNA1G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v0.2 CACNA1A Rebecca Foulger Added phenotypes Dystonia for gene: CACNA1A
Adult onset neurodegenerative disorder v0.2 CACNA1A Rebecca Foulger Added phenotypes episodic ataxia type 2 (EA2),108500; familial hemiplegic migraine type 1, 141500 for gene: CACNA1A
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 C9orf72 Rebecca Foulger Added phenotypes Amyotrophic Lateral Sclerosis/Frontotemporal Dementia; Amyotrophic lateral sclerosis and/or frontotemporal dementia, 105550 -3; Frontotemporal Dementia, Amyotrophic Lateral Sclerosis; Hexanucleotide repeat expansion; amyotrophic lateral sclerosis; frontotemporal dementia for gene: C9orf72
Adult onset neurodegenerative disorder v0.2 C9orf72 Rebecca Foulger Added phenotypes Frontotemporal Dementia And/Or Amyotrophic Lateral Sclerosis; Amyotrophic Lateral Sclerosis/Frontotemporal Dementia; Clinical syndrome FTLD (Frontotemporal lobar degeneration); Amyotrophic lateral sclerosis and/or frontotemporal dementia, 105550 -3 for gene: C9orf72
Adult onset neurodegenerative disorder v0.2 C9orf72 Rebecca Foulger gene: C9orf72 was added
gene: C9orf72 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: C9orf72 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: C9orf72 were set to 27059391; 25638642; PMID: 21944778; 23597494; 21944779; http://www.ncbi.nlm.nih.gov/pubmed/25326098; 25326098
Phenotypes for gene: C9orf72 were set to clinical presentation suggestive of cortico-basal/PSP syndrome; complex parkinsonism; (Hexanucleotideexpansion)
Adult onset neurodegenerative disorder v0.2 C19orf12 Rebecca Foulger Added phenotypes mitochondrial membrane protein-associated neurodegeneration; Dystonia; neurodegeneration with brain iron accumulation-4 for gene: C19orf12
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 C12orf65 Rebecca Foulger gene: C12orf65 was added
gene: C12orf65 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: C12orf65 were set to Shimazaki et al. (2012)
Phenotypes for gene: C12orf65 were set to Spasticparaplegia55,autosomalrecessive,615035
Adult onset neurodegenerative disorder v0.2 BSCL2 Rebecca Foulger gene: BSCL2 was added
gene: BSCL2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: BSCL2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BSCL2 were set to Windpassinger et al. (2004)
Phenotypes for gene: BSCL2 were set to Silver spastic paraplegia syndrome,
Adult onset neurodegenerative disorder v0.2 BEAN1 Rebecca Foulger gene: BEAN1 was added
gene: BEAN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: BEAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: BEAN1 were set to 19878914
Phenotypes for gene: BEAN1 were set to Spinocerebellar ataxia 31 117210
Adult onset neurodegenerative disorder v0.2 BCAP31 Rebecca Foulger gene: BCAP31 was added
gene: BCAP31 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: BCAP31 was set to Unknown
Phenotypes for gene: BCAP31 were set to Deafness, dystonia and cerebellar hypomyelination, 300475
Adult onset neurodegenerative disorder v0.2 B4GALNT1 Rebecca Foulger gene: B4GALNT1 was added
gene: B4GALNT1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: B4GALNT1 were set to Boukhris et al. (2013)
Phenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive
Adult onset neurodegenerative disorder v0.2 AUH Rebecca Foulger gene: AUH was added
gene: AUH was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: AUH was set to Unknown
Phenotypes for gene: AUH were set to Dystonia
Adult onset neurodegenerative disorder v0.2 ATXN8 Rebecca Foulger gene: ATXN8 was added
gene: ATXN8 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ATXN8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATXN8 were set to 10192387
Phenotypes for gene: ATXN8 were set to Spinocerebellar ataxia 8 608768
Adult onset neurodegenerative disorder v0.2 ATXN7 Rebecca Foulger gene: ATXN7 was added
gene: ATXN7 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ATXN7 was set to Unknown
Phenotypes for gene: ATXN7 were set to Spinocerebellarataxia7,164500
Adult onset neurodegenerative disorder v0.2 ATXN3 Rebecca Foulger Added phenotypes familial parkinsonism; (CAGexpansion) for gene: ATXN3
Adult onset neurodegenerative disorder v0.2 ATXN3 Rebecca Foulger gene: ATXN3 was added
gene: ATXN3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ATXN3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v0.2 ATXN2 Rebecca Foulger Added phenotypes Spinocerebellarataxia2,183090{Amyotrophiclateralsclerosis,susceptibilityto,13},183090 for gene: ATXN2
Adult onset neurodegenerative disorder v0.2 ATXN2 Rebecca Foulger Added phenotypes familial parkinsonism; (CAGexpansion) for gene: ATXN2
Adult onset neurodegenerative disorder v0.2 ATXN2 Rebecca Foulger gene: ATXN2 was added
gene: ATXN2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ATXN2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATXN2 were set to 24488689
Phenotypes for gene: ATXN2 were set to Spinocerebellar ataxia 2, 183090; {Amyotrophic lateral sclerosis, susceptibility to, 13}, 183090
Adult onset neurodegenerative disorder v0.2 ATXN10 Rebecca Foulger gene: ATXN10 was added
gene: ATXN10 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ATXN10 was set to Unknown
Phenotypes for gene: ATXN10 were set to Spinocerebellarataxia10,603516
Adult onset neurodegenerative disorder v0.2 ATXN1 Rebecca Foulger gene: ATXN1 was added
gene: ATXN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ATXN1 was set to Unknown
Phenotypes for gene: ATXN1 were set to Spinocerebellarataxia1,164400
Adult onset neurodegenerative disorder v0.2 ATP8A2 Rebecca Foulger gene: ATP8A2 was added
gene: ATP8A2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP8A2 were set to PMID: 22892528
Adult onset neurodegenerative disorder v0.2 ATP7B Rebecca Foulger Added phenotypes Dystonia; Wilson Disease for gene: ATP7B
Adult onset neurodegenerative disorder v0.2 ATP7B Rebecca Foulger gene: ATP7B was added
gene: ATP7B was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ATP7B were set to 20301685
Phenotypes for gene: ATP7B were set to Wilson disease 277900
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 ATP2B3 Rebecca Foulger gene: ATP2B3 was added
gene: ATP2B3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ATP2B3 was set to Unknown
Phenotypes for gene: ATP2B3 were set to Spinocerebellar ataxia, X-linked 1
Adult onset neurodegenerative disorder v0.2 ATP1A3 Rebecca Foulger Added phenotypes ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820; DYSTONIA 12, 128235 for gene: ATP1A3
Adult onset neurodegenerative disorder v0.2 ATP1A3 Rebecca Foulger Added phenotypes alternating hemiplegia of childhood; Rapid-Onset Dystonia-Parkinsonism; CAPOS syndrome; rapid-onset dystonia-parkinsonism; Dystonia-12 for gene: ATP1A3
Adult onset neurodegenerative disorder v0.2 ATP1A3 Rebecca Foulger Added phenotypes Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338); Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235) for gene: ATP1A3
Adult onset neurodegenerative disorder v0.2 ATP1A3 Rebecca Foulger gene: ATP1A3 was added
gene: ATP1A3 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ATP1A3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATP1A3 were set to 22850527; http://www.ncbi.nlm.nih.gov/books/NBK1155/; 22842232
Phenotypes for gene: ATP1A3 were set to Dystonia-12, 128235; Rapid-Onset Dystonia-Parkinsonism
Adult onset neurodegenerative disorder v0.2 ATP1A2 Rebecca Foulger Added phenotypes Dystonia; migraine for gene: ATP1A2
Adult onset neurodegenerative disorder v0.2 ATP1A2 Rebecca Foulger gene: ATP1A2 was added
gene: ATP1A2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ATP1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: ATP1A2 were set to 12539047; 18056581; 12953268
Phenotypes for gene: ATP1A2 were set to alternating hemiplegia of childhood 104290; familial basilar migraine 602481; familial hemiplegic migraine type 2, 602481
Adult onset neurodegenerative disorder v0.2 ATP13A2 Rebecca Foulger Added phenotypes Parkinson disease 9, 606693; Kufor-Rakeb Syndrome for gene: ATP13A2
Adult onset neurodegenerative disorder v0.2 ATP13A2 Rebecca Foulger gene: ATP13A2 was added
gene: ATP13A2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ATP13A2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATP13A2 were set to Dystonia; Kufor-Rakeb syndrome; Parkinson disease
Adult onset neurodegenerative disorder v0.2 ATN1 Rebecca Foulger Added phenotypes Dentatorubro-pallidoluysian atrophy 125370 for gene: ATN1
Adult onset neurodegenerative disorder v0.2 ATN1 Rebecca Foulger gene: ATN1 was added
gene: ATN1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ATN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: ATN1 were set to Dentatorubro-pallidoluysian atrophy 125370
Adult onset neurodegenerative disorder v0.2 ATM Rebecca Foulger Added phenotypes Dystonia; Ataxia telangiectasia for gene: ATM
Adult onset neurodegenerative disorder v0.2 ATM Rebecca Foulger gene: ATM was added
gene: ATM was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ATM was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATM were set to Ataxia-telangiectasia,; Ataxia-Telangiectasia
Adult onset neurodegenerative disorder v0.2 ATL1 Rebecca Foulger gene: ATL1 was added
gene: ATL1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ATL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ATL1 were set to PMID: 11685207
Phenotypes for gene: ATL1 were set to Spastic paraplegia 3A, autosomal dominant,; Spastic Paraplegia, Dominant; Spastic paraplegia 3A, autosomal dominant
Adult onset neurodegenerative disorder v0.2 ATCAY Rebecca Foulger gene: ATCAY was added
gene: ATCAY was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ATCAY was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ATCAY were set to Ataxia, cerebellar, Cayman type; Cerebellar Ataxia, Cayman type
Adult onset neurodegenerative disorder v0.2 ARX Rebecca Foulger gene: ARX was added
gene: ARX was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ARX was set to Unknown
Phenotypes for gene: ARX were set to Dystonia
Adult onset neurodegenerative disorder v0.2 ARSI Rebecca Foulger gene: ARSI was added
gene: ARSI was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ARSI was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARSI were set to Novarino et al. (2014)
Adult onset neurodegenerative disorder v0.2 ARSA Rebecca Foulger Added phenotypes Dystonia for gene: ARSA
Adult onset neurodegenerative disorder v0.2 ARSA Rebecca Foulger gene: ARSA was added
gene: ARSA was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ARSA was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ARSA were set to Metachromatic leukodystrophy (#250100)
Adult onset neurodegenerative disorder v0.2 ARL6IP1 Rebecca Foulger gene: ARL6IP1 was added
gene: ARL6IP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ARL6IP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ARL6IP1 were set to Novarino et al. (2014)
Adult onset neurodegenerative disorder v0.2 AR Rebecca Foulger gene: AR was added
gene: AR was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: AR was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes for gene: AR were set to Spinal and bulbar muscular atrophy of Kennedy, 313200
Adult onset neurodegenerative disorder v0.2 APTX Rebecca Foulger Added phenotypes Ataxia with Oculomotor Apraxia; Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia for gene: APTX
Adult onset neurodegenerative disorder v0.2 APTX Rebecca Foulger gene: APTX was added
gene: APTX was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: APTX was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: APTX were set to Dystonia
Adult onset neurodegenerative disorder v0.2 APP Rebecca Foulger gene: APP was added
gene: APP was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: APP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: APP were set to 22503161; 23028126
Phenotypes for gene: APP were set to Clinical syndrome Alzheimer disease; Dementia
Adult onset neurodegenerative disorder v0.2 AP5Z1 Rebecca Foulger gene: AP5Z1 was added
gene: AP5Z1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: AP5Z1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP5Z1 were set to Slabicki et al. (2010) i
Phenotypes for gene: AP5Z1 were set to Spastic Paraplegia, Recessive; Spastic paraplegia 48, autosomal recessive
Adult onset neurodegenerative disorder v0.2 AP4S1 Rebecca Foulger gene: AP4S1 was added
gene: AP4S1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4S1 were set to Abou Jamra et al. (2011)
Phenotypes for gene: AP4S1 were set to developmental delay; seizures; Spastic paraplegia 52, autosomal recessive
Adult onset neurodegenerative disorder v0.2 AP4M1 Rebecca Foulger gene: AP4M1 was added
gene: AP4M1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4M1 were set to Verkerk et al. (2009)
Phenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive
Adult onset neurodegenerative disorder v0.2 AP4E1 Rebecca Foulger gene: AP4E1 was added
gene: AP4E1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: AP4E1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4E1 were set to Moreno-De-Luca et al. (2011)
Phenotypes for gene: AP4E1 were set to Spastic paraplegia 51, autosomal recessive
Adult onset neurodegenerative disorder v0.2 AP4B1 Rebecca Foulger gene: AP4B1 was added
gene: AP4B1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AP4B1 were set to Abou Jamra et al. (2011) i
Phenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive
Adult onset neurodegenerative disorder v0.2 AP1S2 Rebecca Foulger Added phenotypes Dystonia for gene: AP1S2
Adult onset neurodegenerative disorder 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)
Adult onset neurodegenerative disorder v0.2 ANO3 Rebecca Foulger Added phenotypes Dystonia 24, 615034; familial form of cranio-cervical dystonia for gene: ANO3
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 ANO10 Rebecca Foulger gene: ANO10 was added
gene: ANO10 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ANO10 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: ANO10 were set to Spinocerebellar ataxia, autosomal recessive 10,
Adult onset neurodegenerative disorder 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)
Adult onset neurodegenerative disorder v0.2 AMPD2 Rebecca Foulger Added phenotypes Pontocerebellar hypolplasia (biallelic); Hereditary Spastic Paraplegia? for gene: AMPD2
Adult onset neurodegenerative disorder v0.2 AMPD2 Rebecca Foulger gene: AMPD2 was added
gene: AMPD2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AMPD2 were set to Novarino et al. (2014); PMID: 24482476
Phenotypes for gene: AMPD2 were set to Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).; Pontocerebellar hypoplasia 9 (#615809)
Adult onset neurodegenerative disorder v0.2 ALS2 Rebecca Foulger Added phenotypes 607225 for gene: ALS2
Adult onset neurodegenerative disorder v0.2 ALS2 Rebecca Foulger gene: ALS2 was added
gene: ALS2 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ALS2 were set to 12145748; 23881933; 25474699; 24503148
Phenotypes for gene: ALS2 were set to Spastic paralysis, infantile onset ascending, 607225; Amyotrophic Lateral Sclerosis, Recessive; Amyotrophic lateral sclerosis 2, juvenile, 205100; Primary lateral sclerosis, juvenile, 606353
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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)
Adult onset neurodegenerative disorder v0.2 AIMP1 Rebecca Foulger gene: AIMP1 was added
gene: AIMP1 was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: AIMP1 were set to 21092922
Phenotypes for gene: AIMP1 were set to 260600
Adult onset neurodegenerative disorder v0.2 AFG3L2 Rebecca Foulger Added phenotypes Dystonia for gene: AFG3L2
Adult onset neurodegenerative disorder v0.2 AFG3L2 Rebecca Foulger Added phenotypes Spinocerebellar ataxia 28; Spinocerebellar Ataxia, Dominant; Ataxia, spastic, 5, autosomal recessive for gene: AFG3L2
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 ADCY5 Rebecca Foulger Added phenotypes Familial dyskinesia 606703 for gene: ADCY5
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 ADAR Rebecca Foulger Added phenotypes Aicardi-Goutieres syndrome 6, 615010 for gene: ADAR
Adult onset neurodegenerative disorder v0.2 ADAR Rebecca Foulger gene: ADAR was added
gene: ADAR was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: ADAR were set to 28139822; 25243380
Phenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, 615010; dystonia
Adult onset neurodegenerative disorder v0.2 ACTB Rebecca Foulger gene: ACTB was added
gene: ACTB was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: ACTB was set to Unknown
Phenotypes for gene: ACTB were set to Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder 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
Adult onset neurodegenerative disorder v0.2 AARS Rebecca Foulger gene: AARS was added
gene: AARS was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Red
Mode of inheritance for gene: AARS was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Adult onset neurodegenerative disorder v0.2 AAAS Rebecca Foulger gene: AAAS was added
gene: AAAS was added to Neurodegenerative disorders - adult onset. Sources: Expert Review Green
Mode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal
Adult onset neurodegenerative disorder v0.0 Ellen McDonagh Added Panel Neurodegenerative disorders - adult onset
Set panel types to: GMS Rare Disease Virtual