Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name ABCD1 gene ABCD1 Expert list;Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Adrenoleukodystrophy, adult, OMIM:300100 11810273;27084228;11739809;26049658;23664929 False 3 50;50;0 8.21 False ENSG00000101986 ENSG00000101986 HGNC:61 AFG3L2 gene AFG3L2 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia 28, OMIM:610246;Ataxia, spastic, 5, autosomal recessive, OMIM:614487;Dystonia False 3 75;25;0 8.21 False Other ENSG00000141385 ENSG00000141385 HGNC:315 ALS2 gene ALS2 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 2, juvenile, OMIM:205100;Primary lateral sclerosis, juvenile, OMIM:606353 23881933;24503148;25474699;12145748;11586298 False 3 75;25;0 8.21 False ENSG00000003393 ENSG00000003393 HGNC:443 ANG gene ANG Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 9, 611895 16501576;26753798;17886298;26255299 False 3 75;25;0 8.21 False ENSG00000214274 ENSG00000214274 HGNC:483 ANXA11 gene ANXA11 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 23, OMIM:617839 28469040;30337194;29845112 False 3 100;0;0 8.21 False ENSG00000122359 ENSG00000122359 HGNC:535 APP gene APP Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alzheimer disease 1, familial, OMIM:104300;Cerebral amyloid angiopathy, Dutch, Italian, Iowa, Flemish, Arctic variants, OMIM:605714 2111584;23028126;22503161 False 3 80;20;0 8.21 False ENSG00000142192 ENSG00000142192 HGNC:620 ARSA gene ARSA Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy, OMIM:250100;Dystonia False 3 75;25;0 8.21 False ENSG00000100299 ENSG00000100299 HGNC:713 ATP13A2 gene ATP13A2 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Kufor-Rakeb syndrome, OMIM:606693;Dystonia;Spastic paraplegia 78, autosomal recessive, OMIM:617225 21060012;16964263;27217339;28137957 False 3 75;25;0 8.21 False ENSG00000159363 ENSG00000159363 HGNC:30213 ATP1A3 gene ATP1A3 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, OMIM:614820;CAPOS syndrome, OMIM:601338;DYSTONIA 12, OMIM:128235;Rapid-Onset Dystonia-Parkinsonism 22850527;http://www.ncbi.nlm.nih.gov/books/NBK1155/;15260953;22842232 False 3 75;25;0 8.21 False ENSG00000105409 ENSG00000105409 HGNC:801 ATP7B gene ATP7B Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Wilson disease, OMIM: 277900;Dystonia 29213604;20301685 False 3 75;0;25 8.21 False ENSG00000123191 ENSG00000123191 HGNC:870 AUH gene AUH Expert Review Green;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia 20855850 False 3 67;33;0 8.21 False ENSG00000148090 ENSG00000148090 HGNC:890 C19orf12 gene C19orf12 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Spastic paraplegia 43, autosomal recessive, OMIM:615043;Neurodegeneration with brain iron accumulation 4, OMIM: 614298 23278385;21981780;29295770;31087512;23269600 False 3 80;0;20 8.21 False ENSG00000131943 ENSG00000131943 HGNC:25443 CACNA1G gene CACNA1G Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 42, OMIM:616795 26715324;26456284 False 3 75;25;0 8.21 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000006283 ENSG00000006283 HGNC:1394 CCNF gene CCNF Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Frontotemporal dementia and/or amyotrophic lateral sclerosis 5, OMIM:619141 27080313;29102476;30008669 False 3 67;33;0 8.21 False ENSG00000162063 ENSG00000162063 HGNC:1591 CHCHD10 gene CHCHD10 Expert Review Green;London North GLH;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Myopathy, isolated mitochondrial, autosomal dominant, OMIM:616209 25113787;30014597;27810918;25576308;24934289;31261376 False 3 75;25;0 8.21 False ENSG00000250479 ENSG00000250479 HGNC:15559 CHCHD2 gene CHCHD2 Expert Review Green;London North GLH;NHS GMS;South West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinson disease 22, autosomal dominant, OMIM:616710 25662902;26067114;26705026;26067110;35786718 False 3 80;0;20 8.21 False ENSG00000106153 ENSG00000106153 HGNC:21645 CHMP2B gene CHMP2B Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Frontotemporal dementia and/or amytrophic lateral sclerosis 7, OMIM:600795;Dystonia 16041373;20352044;17956895 False 3 75;25;0 8.21 False ENSG00000083937 ENSG00000083937 HGNC:24537 CLCN2 gene CLCN2 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with ataxia, OMIM:615651 23707145;26539602;28473625;31291907 False 3 75;25;0 8.21 False ENSG00000114859 ENSG00000114859 HGNC:2020 CLN6 gene CLN6 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 6, OMIM:601780;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, OMIM:204300 26115733;30561534 False 3 75;25;0 8.21 False ENSG00000128973 ENSG00000128973 HGNC:2077 COASY gene COASY Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal COASY protein-associated neurodegeneration;Neurodegeneration with brain iron accumulation 6, OMIM:615643 27021474;28489334;24360804;27021474;36495139 False 3 75;0;25 8.21 False ENSG00000068120 ENSG00000068120 HGNC:29932 COL4A1 gene COL4A1 Expert list;Expert Review Green;NHS GMS Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brain small vessel disease with or without ocular anomalies, OMIM:175780;Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773;Microangiopathy and leukoencephalopathy, pontine, autosomal dominant, OMIM:618564;{Hemorrhage, intracerebral, susceptibility to}, OMIM:614519 False 3 100;0;0 8.21 False ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A2 gene COL4A2 Expert list;Expert Review Green;NHS GMS Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brain small vessel disease 2, OMIM:614483;{Hemorrhage, intracerebral, susceptibility to}, OMIM:614519 False 3 100;0;0 8.21 False ENSG00000134871 ENSG00000134871 HGNC:2203 CP gene CP Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia;Cerebellar ataxia, OMIM:604290;Hemosiderosis, systemic, due to aceruloplasminemia, OMIM:604290 7708681;3574673 False 3 75;25;0 8.21 False ENSG00000047457 ENSG00000047457 HGNC:2295 CSF1R gene CSF1R Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown dementia, motor dysfunction (can include spasticity, ataxia, and parkinsonism) and epilepsy;Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820 22197934;23038421;23787135 False 3 75;25;0 8.21 False ENSG00000182578 ENSG00000182578 HGNC:2433 CTSA gene CTSA Expert list;Expert Review Green;NHS GMS Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Brain small vessel disease 6 with leukoencephalopathy, OMIM:621394;cathepsin a-related arteriopathy-strokes-leukoencephalopathy, MONDO:0035551 27664989;28702507;35904593 False 3 100;0;0 8.21 False ENSG00000064601 ENSG00000064601 HGNC:9251 CTSF gene CTSF Expert Review Green;Literature Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362 23297359;25274848 False 3 100;0;0 8.21 False ENSG00000174080 ENSG00000174080 HGNC:2531 CYP27A1 gene CYP27A1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, OMIM:213700;progressive lower extremity spasticity,often disproportionate to any degree of weakness 25862734;26874936;28623566;27455001;29321515 False 3 75;25;0 8.21 False ENSG00000135929 ENSG00000135929 HGNC:2605 CYP7B1 gene CYP7B1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 5A, autosomal recessive, OMIM:270800 Tsaousidou et al. (2008) i False 3 75;25;0 8.21 False ENSG00000172817 ENSG00000172817 HGNC:2652 DARS2 gene DARS2 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105 19592391 False 3 75;25;0 8.21 False ENSG00000117593 ENSG00000117593 HGNC:25538 DCTN1 gene DCTN1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neuropathy, distal hereditary motor, type VIIB, OMIM:607641;Perry syndrome, OMIM:168605;{Amyotrophic lateral sclerosis, susceptibility to}, OMIM:105400 26954557;25109764;20437543;24343258;27132499;20945553;27346608;19136952 False 3 75;25;0 8.21 False ENSG00000204843 ENSG00000204843 HGNC:2711 DNAJB2 gene DNAJB2 Expert list;Expert Review Green;NHS GMS Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spinal muscular atrophy, distal, autosomal recessive, 5, OMIM:614881;young adult-onset distal hereditary motor neuropathy, MONDO:0013947 22522442;25274842 False 3 100;0;0 8.21 False ENSG00000135924 ENSG00000135924 HGNC:5228 DNAJC5 gene DNAJC5 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ceroid lipofuscinosis, neuronal, 4, Parry type, OMIM:162350 21820099;27604308;26610600;22073189 False 3 75;25;0 8.21 False ENSG00000101152 ENSG00000101152 HGNC:16235 DNAJC6 gene DNAJC6 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 19b, early-onset, OMIM:615528;Parkinson disease 19a juvenile-onset, OMIM:615528;juvenile onset Parkinson disease 19A, MONDO:0014231 27687717;22563501;23211418;26528954;34175496;26703368;33181391;32472658 False 3 75;25;0 8.21 False ENSG00000116675 ENSG00000116675 HGNC:15469 DNAJC7 gene DNAJC7 Expert Review Green;Literature;NHS GMS Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted amyotrophic lateral sclerosis 31768050;35039179;34233860;32897108;37870677;35456894 False 3 67;33;0 8.21 False ENSG00000168259 ENSG00000168259 HGNC:12392 DNMT1 gene DNMT1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, OMIM:604121 23365052;8747854;22328086;31984424 False 3 75;25;0 8.21 False ENSG00000130816 ENSG00000130816 HGNC:2976 EIF2B1 gene EIF2B1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, OMIM:603896 11835386;11704758 False 3 75;25;0 8.21 False ENSG00000111361 ENSG00000111361 HGNC:3257 EIF2B2 gene EIF2B2 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, OMIM:603896 11835386;11704758 False 3 75;25;0 8.21 False ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2B3 gene EIF2B3 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, OMIM:603896 11835386;11704758 False 3 75;25;0 8.21 False ENSG00000070785 ENSG00000070785 HGNC:3259 EIF2B4 gene EIF2B4 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, OMIM:603896 11835386;11704758 False 3 75;25;0 8.21 False ENSG00000115211 ENSG00000115211 HGNC:3260 EIF2B5 gene EIF2B5 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, OMIM:603896 11835386;11704758 False 3 75;0;25 8.21 False ENSG00000145191 ENSG00000145191 HGNC:3261 ELOVL4 gene ELOVL4 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 34, OMIM:133190 5048218;26010696;24566826 False 3 75;25;0 8.21 False ENSG00000118402 ENSG00000118402 HGNC:14415 EPM2A gene EPM2A Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Myoclonic epilepsy of Lafora 1, OMIM:254780 27604308;10932264;14722920 False 3 75;25;0 8.21 False ENSG00000112425 ENSG00000112425 HGNC:3413 ERBB4 gene ERBB4 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 19 OMIM:615515;amyotrophic lateral sclerosis type 19 MONDO:0014223 24119685;28889094 False 3 50;50;0 8.21 False ENSG00000178568 ENSG00000178568 HGNC:3432 FBXO7 gene FBXO7 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia;Parkinson disease 15, autosomal recessive, OMIM:260300 18513678;19038853 False 3 75;25;0 8.21 False ENSG00000100225 ENSG00000100225 HGNC:13586 FTL gene FTL Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodegeneration with brain iron accumulation 3, OMIM:606159 24209436 False 3 75;25;0 8.21 False ENSG00000087086 ENSG00000087086 HGNC:3999 FUS gene FUS Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 6, with or without frontotemporal dementia, OMIM:608030 19251627;19251628 False 3 75;25;0 8.21 False ENSG00000089280 ENSG00000089280 HGNC:4010 GBA gene GBA Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal {Parkinson disease, late-onset, susceptibility to}, OMIM:168600;Gaucher disease, type I, OMIM:230800 29400127;27779773;15525722;17620502;27648471;27632223;27717005;35179198 False 3 50;33;17 8.21 False ENSG00000177628 ENSG00000177628 HGNC:4177 GBE1 gene GBE1 Expert list;Expert Review Green;NHS GMS Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Polyglucosan body disease, adult form, OMIM:263570;adult polyglucosan body disease, MONDO:0009897 20301758;26194201;25665141;10762170 False 3 100;0;0 8.21 False ENSG00000114480 ENSG00000114480 HGNC:4180 GCH1 gene GCH1 Expert Review Green;London North GLH;NHS GMS;South West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, OMIM:128230;Hyperphenylalaninemia, BH4-deficient, B, OMIM:233910;Spastic paraplegia 25497597;20301334;24509643;24993959;21935284 False 3 40;40;20 8.21 False ENSG00000131979 ENSG00000131979 HGNC:4193 GFAP gene GFAP Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal Dominant Ataxia;Alexander disease, OMIM:203450 26023202;29095329 False 3 75;25;0 8.21 False ENSG00000131095 ENSG00000131095 HGNC:4235 GLA gene GLA Expert list;Expert Review Green;NHS GMS Adult onset neurodegenerative disorder Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fabry disease, OMIM:301500 False 3 100;0;0 8.21 False ENSG00000102393 ENSG00000102393 HGNC:4296 GRN gene GRN Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485;Aphasia, primary progressive, OMIM:607485;Ceroid lipofuscinosis, neuronal, 11, OMIM:614706 20301545;17923627;27021778;28000352;31855245 False 3 75;25;0 8.21 False ENSG00000030582 ENSG00000030582 HGNC:4601 GSN gene GSN Expert list;Expert Review Green;NHS GMS Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, Finnish type, OMIM:105120;Finnish type amyloidosis, MONDO:0007097 25097823;33973672;33499149 False 3 100;0;0 8.21 False ENSG00000148180 ENSG00000148180 HGNC:4620 HEXA gene HEXA Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, several forms, OMIM:272800;Tay-Sachs disease, OMIM:272800 28739864;27033294 False 3 75;25;0 8.21 False ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 20798201;24263030 False 3 75;25;0 8.21 False ENSG00000049860 ENSG00000049860 HGNC:4879 HNRNPA1 gene HNRNPA1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Inclusion body myopathy wtih early-onset Paget disease without frontotemporal dementia type 3, OMIM:615424, Amyotrophic lateral sclerosis 20, OMIM:615426 23455423;29033165;27694260 False 3 75;25;0 8.21 False ENSG00000135486 ENSG00000135486 HGNC:5031 HTRA1 gene HTRA1 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal dementia (disease), MONDO:0001627;CARASIL syndrome, OMIM:600142;Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, OMIM:616779 19387015;24500651 False 3 67;33;0 8.21 False ENSG00000166033 ENSG00000166033 HGNC:9476 ITM2B gene ITM2B Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dementia, familial British, OMIM:176500;ABri amyloidosis, MONDO:0008306;Dementia, familial Danish, OMIM:117300;ADan amyloidosis, MONDO:0007297 29525180;10391242;10781099 False 3 75;25;0 8.21 False ENSG00000136156 ENSG00000136156 HGNC:6174 KCNC3 gene KCNC3 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 13, OMIM:605259 16501573 False 3 75;25;0 8.21 False ENSG00000131398 ENSG00000131398 HGNC:6235 KCND3 gene KCND3 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellarataxia19, OMIM:607346 False 3 75;25;0 8.21 False ENSG00000171385 ENSG00000171385 HGNC:6239 KIAA1161 gene KIAA1161 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317 30656188;29910000 False 3 100;0;0 8.21 False ENSG00000164976 ENSG00000164976 HGNC:19918 KIF5A gene KIF5A Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 10, autosomal dominant, OMIM:604187 29954873;29566793 False 3 75;25;0 8.21 False ENSG00000155980 ENSG00000155980 HGNC:6323 LAMB1 gene LAMB1 Expert list;Expert Review Green;NHS GMS Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Lissencephaly 5, OMIM:615191;cobblestone lissencephaly without muscular or ocular involvement, MONDO:0014077 32548278;34606115;23472759;25925986;29888467 False 3 100;0;0 8.21 False ENSG00000091136 ENSG00000091136 HGNC:6486 LRRK2 gene LRRK2 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown LRRK2 G2019S mutation;{Parkinson disease 8}, OMIM:607060 7898705;28395802;25391693;27090875;28395803;28395805;28395804;15541308 False 3 75;25;0 8.21 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000188906 ENSG00000188906 HGNC:18618 LYST gene LYST Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome, OMIM:214500;peripheral neuropathy;Parkinsonism;spastic paraplegia 23436631;11857544;9215680;8896560;9215679;24521565;26307451;25519960;25519961 False 3 75;25;0 8.21 False ENSG00000143669 ENSG00000143669 HGNC:1968 MAPT gene MAPT Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dementia, frontotemporal, with or without parkinsonism, OMIM: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;Clinical syndrome FTLD (Frontotemporal lobar degeneration);Supranuclear palsy, progressive atypical, 260540 9641683;9789048;28334843;20301678 False 3 75;25;0 8.21 False ENSG00000186868 ENSG00000186868 HGNC:6893 NAA60 gene NAA60 Expert Review Green;Literature;NHS GMS Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Basal ganglia calcification, idiopathic, 9, autosomal recessive, OMIM:620786;basal ganglia calcification, idiopathic, 9, autosomal recessive, MONDO:0968977 38480682 False 3 100;0;0 8.21 False ENSG00000122390 ENSG00000122390 HGNC:25875 NEK1 gene NEK1 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Amyotrophic lateral sclerosis, susceptibility to, 24}, OMIM:617892;amyotrophic lateral sclerosis, susceptibility to, 24, MONDO:0054750 29650794;26945885;30093141;31768050;27455347;29929116 False 3 50;50;0 8.21 False ENSG00000137601 ENSG00000137601 HGNC:7744 NHLRC1 gene NHLRC1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2B (Lafora), OMIM:254780 12958597;15781812 False 3 75;25;0 8.21 False ENSG00000187566 ENSG00000187566 HGNC:21576 NOTCH3 gene NOTCH3 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310 31960911 False 3 75;25;0 8.21 False ENSG00000074181 ENSG00000074181 HGNC:7883 NPC1 gene NPC1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type C1, OMIM:257220;Niemann-Pick disease, type D, OMIM:257220 False 3 75;25;0 8.21 False ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia;Niemann-Pick disease, type C2, OMIM:607625 False 3 75;25;0 8.21 False ENSG00000119655 ENSG00000119655 HGNC:14537 OPTN gene OPTN Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 12 with or without frontotemporal dementia, OMIM:613435 26303227;26203661;25943890;25859013;23889540;20428114;25681989 False 3 75;25;0 8.21 False ENSG00000123240 ENSG00000123240 HGNC:17142 PANK2 gene PANK2 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia;Neurodegeneration with brain iron accumulation 1, OMIM:234200 15911822;11479594 False 3 75;25;0 8.21 False ENSG00000125779 ENSG00000125779 HGNC:15894 PARK7 gene PARK7 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 7, autosomal recessive early-onset, OMIM:606324 11462174;12446870 False 3 75;25;0 8.21 False ENSG00000116288 ENSG00000116288 HGNC:16369 PDGFB gene PDGFB Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal ganglia calcification, idiopathic, 5, OMIM:615483 29955172;23913003 False 3 67;33;0 8.21 False ENSG00000100311 ENSG00000100311 HGNC:8800 PDGFRB gene PDGFRB Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia;Basal ganglia calcification, idiopathic, 4, OMIM:615007 24065723;24796542 False 3 67;33;0 8.21 False ENSG00000113721 ENSG00000113721 HGNC:8804 PFN1 gene PFN1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 18, OMIM:614808 24920614;22801503 False 3 75;25;0 8.21 False ENSG00000108518 ENSG00000108518 HGNC:8881 PINK1 gene PINK1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 6, early onset, OMIM:605909;Dystonia 15087508;15349870 False 3 75;25;0 8.21 False ENSG00000158828 ENSG00000158828 HGNC:14581 PLA2G6 gene PLA2G6 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 14, autosomal recessive, OMIM:612953;Neurodegeneration with brain iron accumulation 2B, OMIM:610217 16783378;18799783 False 3 75;25;0 8.21 False ENSG00000184381 ENSG00000184381 HGNC:9039 POLG gene POLG Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 39498811 False 3 50;0;50 8.21 False ENSG00000140521 ENSG00000140521 HGNC:9179 PRKN gene PRKN Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease, juvenile, type 2, OMIM:600116;Dystonia 22956510;12056932;9560156 False 3 75;25;0 8.21 False ENSG00000185345 ENSG00000185345 HGNC:8607 PRNP gene PRNP Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Creutzfeldt-Jakob disease, OMIM:123400;Huntington disease-like 1, OMIM:603218;Dementia;Gerstmann-Straussler disease, OMIM:137440 20583301;10953183;26791950;16831973 False 3 75;25;0 8.21 False ENSG00000171867 ENSG00000171867 HGNC:9449 PSAP gene PSAP Expert Review Green;Literature;NHS GMS Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Parkinson disease 24, autosomal dominant, susceptibility to}, OMIM:619491 32201884 False 3 100;0;0 8.21 False ENSG00000197746 ENSG00000197746 HGNC:9498 PSEN1 gene PSEN1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alzheimer disease, type 3, with spastic paraparesis and unusual plaques, OMIM:607822;Alzheimer disease, type 3, with spastic paraparesis and apraxia, OMIM:607822;Dystonia;Dementia, frontotemporal, OMIM:600274;Pick disease, OMIM:172700;Alzheimer disease, type 3, OMIM:607822 16033913;23028126;7596406;22503161 False 3 75;25;0 8.21 False ENSG00000080815 ENSG00000080815 HGNC:9508 PSEN2 gene PSEN2 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alzheimer disease-4, OMIM:606889;Alzheimer disease 4, MONDO:0011743 7638622;23028126;12925374;22503161 False 3 75;25;0 8.21 False ENSG00000143801 ENSG00000143801 HGNC:9509 RAB32 gene RAB32 Expert Review Green;Literature;NHS GMS Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Parkinson disease 26, autosomal dominant, susceptibility to}, OMIM:620923 38614108;38858457 False 3 100;0;0 8.21 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000118508 ENSG00000118508 HGNC:9772 RNF216 gene RNF216 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840 11932290;23656588 False 3 75;25;0 8.21 False ENSG00000011275 ENSG00000011275 HGNC:21698 SETX gene SETX Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433 15106121;23129421;22577233;23881933;21438761 False 3 75;25;0 8.21 False ENSG00000107290 ENSG00000107290 HGNC:445 SLC20A2 gene SLC20A2 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia;Basal ganglia calcification, idiopathic, 1, OMIM:158378 24065723;24135862 False 3 67;33;0 8.21 False ENSG00000168575 ENSG00000168575 HGNC:10947 SNCA gene SNCA Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Parkinson disease 4, OMIM:605543;Parkinson disease 1, OMIM:168601;Dementia, Lewy body, OMIM:127750 False 3 75;25;0 8.21 False Other ENSG00000145335 ENSG00000145335 HGNC:11138 SOD1 gene SOD1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 1, OMIM:105400;Spastic tetraplegia and axial hypotonia, progressive, OMIM:618598 23687121;24501761;25439728;7647793;9817920;7647793;18608106;10809943;12442272;11284995;11127534;23062701;11220750 False 3 75;25;0 8.21 False Other ENSG00000142168 ENSG00000142168 HGNC:11179 SPAST gene SPAST Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 4, autosomal dominant, OMIM:182601;hereditary spastic paraplegia 4, MONDO:0008438 25700176;16240363 False 3 75;25;0 8.21 False ENSG00000021574 ENSG00000021574 HGNC:11233 SPG11 gene SPG11 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal early onset parkinsonism, levo dopa responsve;Spastic paraplegia 11, autosomal recessive, OMIM:604360;Complex parkinsonism;hereditary spastic paraparesis;Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099 21381113;22554690;19224311;18067136;27820618) False 3 75;25;0 8.21 False ENSG00000104133 ENSG00000104133 HGNC:11226 SPG21 gene SPG21 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic Paraplegia, Recessive 14564668;28752238;24451228;26978163 False 3 67;17;17 8.21 False ENSG00000090487 ENSG00000090487 HGNC:20373 SPG7 gene SPG7 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Spastic paraplegia 7, autosomal recessive, OMIM:607259;hereditary spastic paraplegia 7, MONDO:0011803 25681447;16765570;19364936;9635427;18200586;16534102;17646629;20186691;22571692 False 3 62;0;38 8.21 False ENSG00000197912 ENSG00000197912 HGNC:11237 SPTLC1 gene SPTLC1 Expert Review Green;NHS GMS Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 27, juvenile, OMIM:620285;amyotrophic lateral sclerosis 27, juvenile, MONDO:0859529 34059824;34459874;35900868;40027730 False 3 100;0;0 8.21 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000090054 ENSG00000090054 HGNC:11277 SPTLC2 gene SPTLC2 Expert Review Green;Literature;NHS GMS Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuropathy, hereditary sensory and autonomic, type IC, OMIM:613640;amyotrophic lateral sclerosis 27, juvenile, MONDO:0859529 38041684;38041679;38316966 False 3 100;0;0 8.21 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000100596 ENSG00000100596 HGNC:11278 SQSTM1 gene SQSTM1 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, OMIM:616437 22084127;22972638 False 3 67;33;0 8.21 False ENSG00000161011 ENSG00000161011 HGNC:11280 SS18L1 gene SS18L1 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis, MONDO:0004976 23708140;24360741;25888396;30976389 False 3 75;25;0 8.21 False ENSG00000184402 ENSG00000184402 HGNC:15592 STUB1 gene STUB1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Autosomal recessive spinocerebellar ataxia type 16, OMIM:615768;autosomal recessive spinocerebellar ataxia 16, MONDO:0014339;Spinocerebellar ataxia 48, OMIM:618093;spinocerebellar ataxia 48, MONDO:0032526 25592071;30381368;32713943;33564152;35493319;34906452 False 3 17;50;33 8.21 False ENSG00000103266 ENSG00000103266 HGNC:11427 SYNJ1 gene SYNJ1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 20, early-onset, OMIM:615530 23804577;23804563;27435091;26149920;27496670 False 3 75;25;0 8.21 False ENSG00000159082 ENSG00000159082 HGNC:11503 TARDBP gene TARDBP Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 10, with or without FTD, OMIM:612069 23881933;19379745;20697052;18372902 False 3 75;25;0 8.21 False ENSG00000120948 ENSG00000120948 HGNC:11571 TBK1 gene TBK1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, OMIM:616439 26350399;25803835;26581300;26476236;25700176;27260353 False 3 75;25;0 8.21 False ENSG00000183735 ENSG00000183735 HGNC:11584 TMEM240 gene TMEM240 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 21, OMIM:607454 25070513;18418688 False 3 75;25;0 8.21 False ENSG00000205090 ENSG00000205090 HGNC:25186 TREM2 gene TREM2 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, OMIM:618193;Dystonia 23318515;15883308 False 3 67;33;0 8.21 False ENSG00000095970 ENSG00000095970 HGNC:17761 TREX1 gene TREX1 Expert Review Green;NHS GMS Adult onset neurodegenerative disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 1, dominant and recessive, OMIM:225750;Vasculopathy, retinal, with cerebral leukoencephalopathy and systemic manifestations, OMIM:192315 False 3 100;0;0 8.21 False ENSG00000213689 ENSG00000213689 HGNC:12269 TTC19 gene TTC19 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 2, OMIM:615157 23532514;21278747 False 3 75;25;0 8.21 False ENSG00000011295 ENSG00000011295 HGNC:26006 TTR gene TTR Expert list;Expert Review Green;NHS GMS Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyloidosis, hereditary, transthyretin-related, OMIM:105210;Carpal tunnel syndrome, familial, OMIM:115430 29779881;31257920;34390072;27466465;35040071;25802113;34663645;28991667 False 3 100;0;0 8.21 False ENSG00000118271 ENSG00000118271 HGNC:12405 TUBA4A gene TUBA4A Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, OMIM:616208;amyotrophic lateral sclerosis type 22, MONDO:0014531 25374358;28069311;25893256 False 3 50;50;0 8.21 False ENSG00000127824 ENSG00000127824 HGNC:12407 TYROBP gene TYROBP Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, OMIM:221770 12370476;15049507;10888890 False 3 75;25;0 8.21 False ENSG00000011600 ENSG00000011600 HGNC:12449 UBQLN2 gene UBQLN2 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Amyotrophic lateral sclerosis 15, with or without frontotemporal dementia, OMIM:300857 23541532;21857683 False 3 75;25;0 8.21 False ENSG00000188021 ENSG00000188021 HGNC:12509 VAPB gene VAPB Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 8, OMIM:608627 18555774;15372378 False 3 75;25;0 8.21 False ENSG00000124164 ENSG00000124164 HGNC:12649 VCP gene VCP Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Frontotemporal dementia and/or amyotrophic lateral sclerosis 6, OMIM:613954 26511028;23498975;27178390;25492614;21145000;23881933;25618255;25457024 False 3 75;25;0 8.21 False ENSG00000165280 ENSG00000165280 HGNC:12666 VPS13A gene VPS13A Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Choreoacanthocytosis, OMIM:200150 11381253 False 3 75;25;0 8.21 False ENSG00000197969 ENSG00000197969 HGNC:1908 VPS35 gene VPS35 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Parkinson disease 17}, OMIM:614203 27777137;22517097;23408866;26547032;21763482;22991136;21763483;24854799;35766879 False 3 75;25;0 8.21 False ENSG00000069329 ENSG00000069329 HGNC:13487 VRK1 gene VRK1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 1A, OMIM:607596;spinal muscular atrophy, MONDO:0001516;distal hereditary motor neuropathy, MONDO:0018894;familial amyotrophic lateral sclerosis, MONDO:0005144 26583493;31837156;34169149 False 3 29;14;57 8.21 False ENSG00000100749 ENSG00000100749 HGNC:12718 WDR45 gene WDR45 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Dystonia;Neurodegeneration with brain iron accumulation 5, OMIM:300894 23176820;23435086 False 3 75;0;25 8.21 False ENSG00000196998 ENSG00000196998 HGNC:28912 XK gene XK Expert Review Green;Literature;NHS GMS Adult onset neurodegenerative disorder Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) McLeod syndrome with or without chronic granulomatous disease, OMIM:300842;McLeod neuroacanthocytosis syndrome, MONDO:0018945 30128557;20301528;8004674 False 3 100;0;0 8.21 False ENSG00000047597 ENSG00000047597 HGNC:12811 XPR1 gene XPR1 Expert Review Green;London North GLH;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 6, OMIM:605237 26231937;25938945 False 3 67;33;0 8.21 False ENSG00000143324 ENSG00000143324 HGNC:12827 AP5Z1 gene AP5Z1 Expert Review Amber;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 48, autosomal recessive, OMIM:613647 Slabicki et al. (2010) i False 2 33;33;33 8.21 False ENSG00000242802 ENSG00000242802 HGNC:22197 ARHGEF28 gene ARHGEF28 Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Amyotrophic lateral sclerosis, MONDO:0004976 23286752;24712971;28709720;27154192 False 2 0;100;0 8.21 False ENSG00000214944 ENSG00000214944 HGNC:30322 ATP2B3 gene ATP2B3 Expert Review Amber;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Unknown ?Spinocerebellar ataxia, X-linked 1, OMIM:302500 22912398;27653636;27632770;22912398 False 2 0;67;33 8.21 False ENSG00000067842 ENSG00000067842 HGNC:816 ATP6AP2 gene ATP6AP2 Expert Review Amber;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females ?Parkinsonism with spasticity, X-linked, OMIM:300911;Mental retardation, X-linked, syndromic, Hedera type, OMIM:300423 23595882 False 2 0;67;33 8.21 False ENSG00000182220 ENSG00000182220 HGNC:18305 CCDC88C gene CCDC88C Expert Review Amber;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Spinocerebellar ataxia 40, OMIM:616053 25062847;30398676 False 2 0;67;33 8.21 False ENSG00000015133 ENSG00000015133 HGNC:19967 CIZ1 gene CIZ1 Expert Review Amber;London North GLH;NHS GMS;South West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Unknown Dystonia 23, MONDO:0013928 22447717 False 2 0;40;60 8.21 False ENSG00000148337 ENSG00000148337 HGNC:16744 COQ2 gene COQ2 Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal {Multiple system atrophy, susceptibility to}, OMIM:146500 23758206 False 2 0;100;0 8.21 False ENSG00000173085 ENSG00000173085 HGNC:25223 CST3 gene CST3 Expert list;Expert Review Amber;NHS GMS Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral amyloid angiopathy, OMIM:105150;leukodystrophy, MONDO:0019046 38489591;38729262 False 2 0;100;0 8.21 False ENSG00000101439 ENSG00000101439 HGNC:2475 DNAJC13 gene DNAJC13 Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 24218364;25186792;30537300 False 2 0;100;0 8.21 False ENSG00000138246 ENSG00000138246 HGNC:30343 EIF4G1 gene EIF4G1 Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Parkinsons disease 18}, OMIM:614251 21907011 False 2 50;50;0 8.21 False ENSG00000114867 ENSG00000114867 HGNC:3296 EWSR1 gene EWSR1 Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis, MONDO:0004976 29170628;22454397 False 2 0;100;0 8.21 False ENSG00000182944 ENSG00000182944 HGNC:3508 GCDH gene GCDH Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia;Glutaricaciduria, type I, OMIM:231670 23884036;26316201 False 2 50;50;0 8.21 False ENSG00000105607 ENSG00000105607 HGNC:4189 GIGYF2 gene GIGYF2 Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Parkinson disease 11}, OMIM:607688 20044296;26134514;18923002;19279319;19250854;19321232;20060621;19449032;18358451;19429085;20685231;19482505 False 2 50;50;0 8.21 False ENSG00000204120 ENSG00000204120 HGNC:11960 GLT8D1 gene GLT8D1 Expert list;Expert Review Amber Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted familial amyotrophic lateral sclerosis, MONDO:0005144 30811981;35525134;33581933;31653410;33714647;34746377 False 2 33;67;0 8.21 False ENSG00000016864 ENSG00000016864 HGNC:24870 HNRNPA2B1 gene HNRNPA2B1 Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis, MONDO:0004976;?Inclusion body myopathy with early-onset Paget disease with or without frontotemporal dementia 2, OMIM:615422 25299611;23455423;27773581 False 2 0;100;0 8.21 False ENSG00000122566 ENSG00000122566 HGNC:5033 JAM2 gene JAM2 Expert Review Amber;Literature Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Basal ganglia calcification, idiopathic, 8, autosomal recessive, OMIM:618824;basal ganglia calcification, idiopathic, 8, autosomal recessive, MONDO:0032938;Fahr syndrome 31851307;37446066 False 2 100;0;0 8.21 False ENSG00000154721 ENSG00000154721 HGNC:14686 MARS2 gene MARS2 Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 3, autosomal recessive, OMIM:611390 22448145;16672289 False 2 25;25;50 8.21 False ENSG00000247626 ENSG00000247626 HGNC:25133 MATR3 gene MATR3 Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 21, OMIM:606070 25771394;26493020;28029397 False 2 0;100;0 8.21 False ENSG00000015479 ENSG00000015479 HGNC:6912 NR4A2 gene NR4A2 Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder with language impairment and early-onset DOPA-responsive dystonia-parkinsonism, OMIM:619911 24126627;15390059;15184637;25543265;27012974;19429166;15276233;12827450;28385514;16532445;12496759 False 2 0;100;0 8.21 False ENSG00000153234 ENSG00000153234 HGNC:7981 PRKRA gene PRKRA Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia 16, OMIM:612067 24142417;25737287 26990861;18420150.;25914261;25737287;18243799;26990861;http://www.ncbi.nlm.nih.gov/books/NBK1155/;18420150;22842711;25142429 False 2 50;25;25 8.21 False ENSG00000180228 ENSG00000180228 HGNC:9438 PRPH gene PRPH Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Amyotrophic lateral sclerosis, susceptibility to}, OMIM:170710 25299611;15446584;15322088 False 2 0;100;0 8.21 False ENSG00000135406 ENSG00000135406 HGNC:9461 SIGMAR1 gene SIGMAR1 Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal ?Amyotrophic lateral sclerosis 16, juvenile, OMIM:614373 26088964;26078401;21031579;26088963;21842496;27821430 False 2 50;25;25 8.21 False ENSG00000147955 ENSG00000147955 HGNC:8157 SLC30A10 gene SLC30A10 Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 1, OMIM:613280 22926781;22341972;22934317;30272946;22341971;25778823 False 2 50;25;25 8.21 False ENSG00000196660 ENSG00000196660 HGNC:25355 SNCB gene SNCB Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Unknown Dementia, Lewy body, OMIM:127750 15365127;21045828 False 2 0;100;0 8.21 False ENSG00000074317 ENSG00000074317 HGNC:11140 SORL1 gene SORL1 Expert Review Amber;NHS GMS Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alzheimer's Disease 28537274;22472873;28595629;32587946 False 2 0;100;0 8.21 False ENSG00000137642 ENSG00000137642 HGNC:11185 TAF1 gene TAF1 Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Dystonia-Parkinsonism, X-linked, OMIM:314250 11714101;20301662;26769797;2368812;12928496;26637982;17273961;http://www.ncbi.nlm.nih.gov/books/NBK1155/;17668393;23184149;26879577 False 2 75;25;0 8.21 False ENSG00000147133 ENSG00000147133 HGNC:11535 TUBB4A gene TUBB4A Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukodystrophy, hypomyelinating, 6, OMIM:612438;Dystonia 4, torsion, autosomal dominant, OMIM:128101 25374358;27809427;25497598 False 2 50;50;0 8.21 False Other ENSG00000104833 ENSG00000104833 HGNC:20774 UQCRC1 gene UQCRC1 Expert Review Amber;Literature Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinsonism with polyneuropathy, OMIM:619279 30788857;33141179;33779694;33248804 False 2 0;100;0 8.21 False ENSG00000010256 ENSG00000010256 HGNC:12585 VPS13C gene VPS13C Expert Review Amber;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 23, autosomal recessive, early onset, OMIM:616840 26942284;28137300;28862745 False 2 0;100;0 8.21 False ENSG00000129003 ENSG00000129003 HGNC:23594 AAAS gene AAAS Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Achalasia-addisonianism-alacrimia syndrome, OMIM:231550;Triple-A syndrome, MONDO:0009279 False 1 25;0;75 8.21 False ENSG00000094914 ENSG00000094914 HGNC:13666 AARS gene AARS Expert Review Red;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287;Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212 False 1 0;33;67 8.21 False ENSG00000090861 ENSG00000090861 HGNC:20 ABCB7 gene ABCB7 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Anemia, sideroblastic, with ataxia,;Sideroblastic Anemia and Ataxia False 1 0;0;100 8.21 False ENSG00000131269 ENSG00000131269 HGNC:48 ABHD12 gene ABHD12 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC);Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract 20797687 False 1 50;0;50 8.21 False ENSG00000100997 ENSG00000100997 HGNC:15868 ACTB gene ACTB Expert Review Red;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Unknown Dystonia, juvenile-onset, 607371Baraitser-Winter syndrome 1, 243310 False 1 0;33;67 8.21 False ENSG00000075624 ENSG00000075624 HGNC:132 ADAR gene ADAR Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, OMIM:615010 28139822;25243380 False 1 0;0;100 8.21 False ENSG00000160710 ENSG00000160710 HGNC:225 ADCY5 gene ADCY5 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted dystonia;Familial dyskinesia 606703;Dyskinesia, familial, with facial myokymia, 606703 11310626;24700542 False 1 25;0;75 8.21 False ENSG00000173175 ENSG00000173175 HGNC:236 AIMP1 gene AIMP1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 3, 260600 21092922 False 1 0;0;100 8.21 False ENSG00000164022 ENSG00000164022 HGNC:10648 ALAS2 gene ALAS2 Expert Review Red;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;33;67 8.21 False ENSG00000158578 ENSG00000158578 HGNC:397 ALDH18A1 gene ALDH18A1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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 False 1 25;0;75 8.21 False ENSG00000059573 ENSG00000059573 HGNC:9722 AMPD2 gene AMPD2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).;Hereditary Spastic Paraplegia?;Pontocerebellar hypoplasia 9 (#615809);Pontocerebellar hypolplasia (biallelic) Novarino et al. (2014);PMID: 24482476 False 1 0;0;100 8.21 False ENSG00000116337 ENSG00000116337 HGNC:469 ANO10 gene ANO10 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 10, 613728 25182700 False 1 50;0;50 8.21 False ENSG00000160746 ENSG00000160746 HGNC:25519 ANO3 gene ANO3 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 24, 615034;familial form of cranio-cervical dystonia 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 False 1 0;0;100 8.21 False ENSG00000134343 ENSG00000134343 HGNC:14004 AP1S2 gene AP1S2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Pettigrew syndrome, OMIM:304340 False 1 0;25;75 8.21 False ENSG00000182287 ENSG00000182287 HGNC:560 AP4B1 gene AP4B1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 47, autosomal recessive, OMIM:614066;Hereditary spastic paraplegia 47, MONDO:0013551 Abou Jamra et al. (2011) i False 1 0;0;100 8.21 False ENSG00000134262 ENSG00000134262 HGNC:572 AP4E1 gene AP4E1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 51, autosomal recessive, OMIM:613744;Hereditary spastic paraplegia 51, MONDO:0013401 Moreno-De-Luca et al. (2011) False 1 0;0;100 8.21 False ENSG00000081014 ENSG00000081014 HGNC:573 AP4M1 gene AP4M1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 50, autosomal recessive Verkerk et al. (2009) False 1 0;0;100 8.21 False ENSG00000221838 ENSG00000221838 HGNC:574 AP4S1 gene AP4S1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal developmental delay;seizures;Spastic paraplegia 52, autosomal recessive Abou Jamra et al. (2011) False 1 0;0;100 8.21 False ENSG00000100478 ENSG00000100478 HGNC:575 APTX gene APTX Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia with Oculomotor Apraxia;Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia;Dystonia 14506070 False 1 50;0;50 8.21 False ENSG00000137074 ENSG00000137074 HGNC:15984 AR gene AR Expert Review Red;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Other Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 False 1 33;0;67 8.21 False Other ENSG00000169083 ENSG00000169083 HGNC:644 ARG1 gene ARG1 Expert list;Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Argininemia, OMIM:207800 26310552;23859858;2365823;1463019 False 1 0;0;100 8.21 False ENSG00000118520 ENSG00000118520 HGNC:663 ARL6IP1 gene ARL6IP1 Expert Review Red;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Novarino et al. (2014) False 1 0;33;67 8.21 False ENSG00000170540 ENSG00000170540 HGNC:697 ARSI gene ARSI Expert Review Red;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Novarino et al. (2014) False 1 0;33;67 8.21 False ENSG00000183876 ENSG00000183876 HGNC:32521 ARX gene ARX Expert Review Red;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Unknown Dystonia 23657928 False 1 0;67;33 8.21 False ENSG00000004848 ENSG00000004848 HGNC:18060 ATCAY gene ATCAY Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia, cerebellar, Cayman type;Cerebellar Ataxia, Cayman type False 1 0;0;100 8.21 False ENSG00000167654 ENSG00000167654 HGNC:779 ATL1 gene ATL1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 3A, autosomal dominant,;Spastic Paraplegia, Dominant;Spastic paraplegia 3A, autosomal dominant PMID: 11685207 False 1 25;0;75 8.21 False ENSG00000198513 ENSG00000198513 HGNC:11231 ATM gene ATM Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia, OMIM:208900 False 1 25;0;75 8.21 False ENSG00000149311 ENSG00000149311 HGNC:795 ATN1 gene ATN1 Expert Review Red;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Other Dentatorubral-pallidoluysian atrophy, OMIM:125370 False 1 0;33;67 8.21 False ENSG00000111676 ENSG00000111676 HGNC:3033 ATP1A2 gene ATP1A2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia;alternating hemiplegia of childhood 104290;familial basilar migraine 602481;migraine;familial hemiplegic migraine type 2, 602481 12539047;18056581;12953268 False 1 0;0;100 8.21 False ENSG00000018625 ENSG00000018625 HGNC:800 ATP8A2 gene ATP8A2 Expert Review Red;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal 22892528;27679995;2845499;31612321 False 1 0;67;33 8.21 False ENSG00000132932 ENSG00000132932 HGNC:13533 ATXN1 gene ATXN1 Expert Review Red;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Other Spinocerebellar ataxia 1, OMIM:164400 False 1 0;33;67 8.21 False ENSG00000124788 ENSG00000124788 HGNC:10548 ATXN10 gene ATXN10 Expert Review Red;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Other Spinocerebellar ataxia 10, OMIM:603516 False 1 0;33;67 8.21 False ENSG00000130638 ENSG00000130638 HGNC:10549 ATXN2 gene ATXN2 Expert Review Red;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Other Spinocerebellar ataxia 2, OMIM:183090;{Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090;{Parkinson disease, late-onset, susceptibility to}, OMIM:168600 24488689 False 1 0;33;67 8.21 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000204842 ENSG00000204842 HGNC:10555 ATXN3 gene ATXN3 Expert Review Red;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Other Machado-Joseph disease, OMIM:109150;Susceptibility to Late-Onset Parkinson Disease False 1 0;33;67 8.21 False ENSG00000066427 ENSG00000066427 HGNC:7106 ATXN7 gene ATXN7 Expert Review Red;London North GLH;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Other Spinocerebellar ataxia 7, OMIM:164500 False 1 25;25;50 8.21 False ENSG00000163635 ENSG00000163635 HGNC:10560 ATXN8 gene ATXN8 Expert Review Red;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 8 608768 10192387 False 1 0;33;67 8.21 False - - HGNC:32925 B4GALNT1 gene B4GALNT1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 26, autosomal recessive Boukhris et al. (2013) False 1 25;0;75 8.21 False ENSG00000135454 ENSG00000135454 HGNC:4117 BCAP31 gene BCAP31 Expert Review Red;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Deafness, dystonia and cerebellar hypomyelination, 300475 False 1 33;0;67 8.21 False ENSG00000185825 ENSG00000185825 HGNC:16695 BEAN1 gene BEAN1 Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 31 117210 19878914 False 1 0;50;50 8.21 False ENSG00000166546 ENSG00000166546 HGNC:24160 BSCL2 gene BSCL2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Silver spastic paraplegia syndrome, OMIM:270685 Windpassinger et al. (2004) False 1 0;0;100 8.21 False ENSG00000168000 ENSG00000168000 HGNC:15832 C12orf65 gene C12orf65 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 55, autosomal recessive, OMIM:615035 Shimazaki et al. (2012) False 1 0;0;100 8.21 False ENSG00000130921 ENSG00000130921 HGNC:26784 C9orf72 gene C9orf72 Expert Review Red;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Other Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 27059391;25638642;21944778;23597494;21944779;25326098;25326098 False 1 0;33;67 8.21 False ENSG00000147894 ENSG00000147894 HGNC:28337 CA8 gene CA8 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 False 1 0;0;100 8.21 False ENSG00000178538 ENSG00000178538 HGNC:1382 CACNA1A gene CACNA1A Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Other Spinocerebellar ataxia 6, OMIM:183086 21734179;17575281 False 1 25;0;75 8.21 False ENSG00000141837 ENSG00000141837 HGNC:1388 CACNB4 gene CACNB4 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia, type 5;EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9;EPISODIC ATAXIA, TYPE 5;Episodic Ataxia 10762541;PMC1378014 False 1 0;0;100 8.21 False ENSG00000182389 ENSG00000182389 HGNC:1404 CAMTA1 gene CAMTA1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebellarataxia, nonprogressive, with mental retardation, 614756 False 1 0;0;100 8.21 False ENSG00000171735 ENSG00000171735 HGNC:18806 CAPN1 gene CAPN1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 76 autosomal recessive 616907 False 1 50;0;50 8.21 False ENSG00000014216 ENSG00000014216 HGNC:1476 CASK gene CASK Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) FG syndrome 4, 300422;Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 False 1 0;0;100 8.21 False ENSG00000147044 ENSG00000147044 HGNC:1497 CCT5 gene CCT5 Expert Review Red;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary sensory, with spastic paraplegia;Sensory Neuropathy with Spastic Paraplegia False 1 0;33;67 8.21 False ENSG00000150753 ENSG00000150753 HGNC:1618 CDK16 gene CDK16 Expert Review Red;London North GLH;NHS GMS;South West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Intellectual disability and spastic paraplegia 26350204;25644381 False 1 0;20;80 8.21 False ENSG00000102225 ENSG00000102225 HGNC:8749 CHMP1A gene CHMP1A Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 8, 614961 False 1 0;0;100 8.21 False ENSG00000131165 ENSG00000131165 HGNC:8740 CLP1 gene CLP1 Expert Review Red;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 10, 615803 24766809;24766810 False 1 0;67;33 8.21 False ENSG00000172409 ENSG00000172409 HGNC:16999 COG5 gene COG5 Expert Review Red;London North GLH;NHS GMS;South West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IIi 613612 19690088;28960046 False 1 0;20;80 8.21 False ENSG00000164597 ENSG00000164597 HGNC:14857 COQ8A gene COQ8A Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary 4, 612016;Spinocerebellar Ataxia Type 24048965;29915382 False 1 50;25;25 8.21 False ENSG00000163050 ENSG00000163050 HGNC:16812 COX20 gene COX20 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110 False 1 0;25;75 8.21 False ENSG00000203667 ENSG00000203667 HGNC:26970 CSTB gene CSTB Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 26843564 False 1 0;0;100 8.21 False ENSG00000160213 ENSG00000160213 HGNC:2482 CWF19L1 gene CWF19L1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 17, 616127 False 1 0;0;100 8.21 False ENSG00000095485 ENSG00000095485 HGNC:25613 CYP2U1 gene CYP2U1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients.;Spastic paraplegia 56, autosomal recessive Tesson et al. (2012) False 1 25;25;50 8.21 False ENSG00000155016 ENSG00000155016 HGNC:20582 DAB1 gene DAB1 Expert Review Red;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 37 615945 28686858;29939198 False 1 0;67;33 8.21 False ENSG00000173406 ENSG00000173406 HGNC:2661 DAO gene DAO Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis, MONDO:0004976 29194436;20368421;28430856;29895397 False 1 33;67;0 8.21 False ENSG00000110887 ENSG00000110887 HGNC:2671 DARS gene DARS Expert list;Expert Review Red;London North GLH;NHS GMS;South West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Brain stem and spinal cord Hypomyelination;leg spasticity;Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 23643384;25527264 False 1 20;0;80 8.21 False ENSG00000115866 ENSG00000115866 HGNC:2678 DCAF17 gene DCAF17 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia;Woodhouse-Sakati syndrome False 1 25;0;75 8.21 False ENSG00000115827 ENSG00000115827 HGNC:25784 DDC gene DDC Expert Review Red;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Aromatic L-amino acid decarboxylase deficiency, OMIM:608643;Aromatic L-amino acid decarboxylase deficiency, MONDO:0012084 False 1 33;0;67 8.21 False ENSG00000132437 ENSG00000132437 HGNC:2719 DDHD1 gene DDHD1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 28, autosomal recessive Tesson et al. (2012) False 1 0;0;100 8.21 False ENSG00000100523 ENSG00000100523 HGNC:19714 DDHD2 gene DDHD2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal 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.;Spastic paraplegia 54, autosomal recessive Schuurs-Hoeijmakers et al. (2012) False 1 0;0;100 8.21 False ENSG00000085788 ENSG00000085788 HGNC:29106 DLAT gene DLAT Expert Review Red;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia False 1 33;0;67 8.21 False ENSG00000150768 ENSG00000150768 HGNC:2896 DMXL2 gene DMXL2 Expert Review Red;London North GLH;NHS GMS;South West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Sensorineural Hearing Loss;ORPHA90636;OMIM:612186 25248098;22875945;27657680 False 1 0;0;100 8.21 False ENSG00000104093 ENSG00000104093 HGNC:2938 DNAJC19 gene DNAJC19 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type V 610198;dilated cardiomyopathy with ataxia (DCMA) syndrome 16055927;27604308;27426421;22797137;27928778 False 1 0;0;100 8.21 False ENSG00000205981 ENSG00000205981 HGNC:30528 DRD2 gene DRD2 Expert Review Red;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Unknown Dystonia, myoclonic, 159900 http://www.ncbi.nlm.nih.gov/books/NBK1414/ False 1 0;33;67 8.21 False ENSG00000149295 ENSG00000149295 HGNC:3023 DRD5 gene DRD5 Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Unknown {Blepharospasm, primary benign}, 606798 PMID: 17133500 False 1 0;50;50 8.21 False ENSG00000169676 ENSG00000169676 HGNC:3026 DSTYK gene DSTYK Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 23, 270750 28157540 False 1 0;50;50 8.21 False ENSG00000133059 ENSG00000133059 HGNC:29043 DYNC1H1 gene DYNC1H1 Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot Marie Tooth, SMA, Intellectual disability False 1 0;50;50 8.21 False ENSG00000197102 ENSG00000197102 HGNC:2961 EARS2 gene EARS2 Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Unknown Dystonia False 1 0;50;50 8.21 False ENSG00000103356 ENSG00000103356 HGNC:29419 ELOVL5 gene ELOVL5 Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 36 (#615957) 25065913 False 1 0;50;50 8.21 False ENSG00000012660 ENSG00000012660 HGNC:21308 ENTPD1 gene ENTPD1 Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 64, autosomal recessive, OMIM:615683 24482476;29691679;30652007 False 1 0;50;50 8.21 False ENSG00000138185 ENSG00000138185 HGNC:3363 ERCC6 gene ERCC6 Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Unknown Dystonia 18185538 False 1 0;50;50 8.21 False ENSG00000225830 ENSG00000225830 HGNC:3438 ERLIN1 gene ERLIN1 Expert list;Expert Review Red;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Hereditary spastic paraplegia;Spastic paraplegia 62, 615681 24482476 False 1 0;0;100 8.21 False ENSG00000107566 ENSG00000107566 HGNC:16947 ERLIN2 gene ERLIN2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal neurodegeneration;hereditary spastic paraplegia;Spastic paraplegia 18, autosomal recessive, 611225;Spastic paraplegia, autosomal dominant 21796390;21330303;23085305;27824013;25977983;29528531;23897027;23109142;28832565;22554690;23109145 False 1 0;25;75 8.21 False ENSG00000147475 ENSG00000147475 HGNC:1356 EXOSC3 gene EXOSC3 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1B, OMIM:614678 False 1 0;0;100 8.21 False ENSG00000107371 ENSG00000107371 HGNC:17944 FA2H gene FA2H Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia;fatty acid hydroxylase-associated neurodegeneration;Spastic paraplegia 35, autosomal recessive Edvardson et al. (2008) False 1 0;0;100 8.21 False ENSG00000103089 ENSG00000103089 HGNC:21197 FARS2 gene FARS2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 77, autosomal recessive, 617046 26553276;29126765;30250868;25851414 False 1 0;0;100 8.21 False ENSG00000145982 ENSG00000145982 HGNC:21062 FASTKD2 gene FASTKD2 Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 44, OMIM:618855 False 1 0;50;50 8.21 False ENSG00000118246 ENSG00000118246 HGNC:29160 FGF14 gene FGF14 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 27 16211615 False 1 25;25;50 8.21 False ENSG00000102466 ENSG00000102466 HGNC:3671 FIG4 gene FIG4 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Amyotrophic lateral sclerosis 11 OMIM:612577;amyotrophic lateral sclerosis type 11 MONDO:0012945;Charcot-Marie-Tooth disease, type 4J, OMIM:611228;Charcot-Marie-Tooth disease type 4J MONDO:0012640 19118816;23888880;21705420 False 1 50;33;17 8.21 False ENSG00000112367 ENSG00000112367 HGNC:16873 FLVCR1 gene FLVCR1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Posterior Column Ataxia with Retinitis Pigmentosa;Ataxia, posterior column, with retinitis pigmentosa, False 1 0;0;100 8.21 False ENSG00000162769 ENSG00000162769 HGNC:24682 FMR1 gene FMR1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fragile X syndrome, OMIM:300624;Fragile X tremor/ataxia syndrome, OMIM:300623 28176767 False 1 25;25;50 8.21 False ENSG00000102081 ENSG00000102081 HGNC:3775 FOLR1 gene FOLR1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration due to cerebral folate transport deficiency, 613068 11438811;12746423 False 1 0;0;100 8.21 False ENSG00000110195 ENSG00000110195 HGNC:3791 FOXG1 gene FOXG1 Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Unknown Dystonia False 1 0;50;50 8.21 False ENSG00000176165 ENSG00000176165 HGNC:3811 FOXRED1 gene FOXRED1 Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Unknown Dystonia False 1 0;50;50 8.21 False ENSG00000110074 ENSG00000110074 HGNC:26927 FXN gene FXN Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia, OMIM:229300;Friedreich ataxia with retained reflexes, OMIM:229300 False 1 0;0;100 8.21 False ENSG00000165060 ENSG00000165060 HGNC:3951 GAD1 gene GAD1 Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Unknown Cerebralpalsy,spasticquadriplegic,1,603513 False 1 0;50;50 8.21 False ENSG00000128683 ENSG00000128683 HGNC:4092 GAMT gene GAMT Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Unknown Dystonia False 1 0;50;50 8.21 False ENSG00000130005 ENSG00000130005 HGNC:4136 GBA2 gene GBA2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 46, autosomal recessive, 614409 23332916 False 1 50;25;25 8.21 False ENSG00000070610 ENSG00000070610 HGNC:18986 GJC2 gene GJC2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 2;Autosomal Recessive Ataxia;Spastic paraplegia 44, autosomal recessive Orthmann-Murphy et al. (2009) False 1 0;25;75 8.21 False ENSG00000198835 ENSG00000198835 HGNC:17494 GLRA1 gene GLRA1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia, hereditary 1, 149400 20301437 False 1 0;0;100 8.21 False ENSG00000145888 ENSG00000145888 HGNC:4326 GLRB gene GLRB Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 2, 614619 23238346;11929858;21391991 False 1 0;0;100 8.21 False ENSG00000109738 ENSG00000109738 HGNC:4329 GNAL gene GNAL Expert Review Red;London North GLH;NHS GMS;South West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown adult-onset cranio-cervical dystonia;Dystonia 25, 615073 25847575;24729450;24535567;24408567;26365774;26810727;27093447;27123488;23222958;26506956;27222887;http://www.ncbi.nlm.nih.gov/books/NBK1155/;23449625;23759320;25382112;24151159;26725140 False 1 20;20;60 8.21 False ENSG00000141404 ENSG00000141404 HGNC:4388 GNAO1 gene GNAO1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with involuntary movements, 617493 25966631;27068059;27625011;28357411;26060304 False 1 0;0;100 8.21 False ENSG00000087258 ENSG00000087258 HGNC:4389 GOSR2 gene GOSR2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 6, 614018 24285620;21549339;20301317 False 1 0;0;100 8.21 False ENSG00000108433 ENSG00000108433 HGNC:4431 GPAA1 gene GPAA1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 15, 617810 29100095;24896178 False 1 0;0;100 8.21 False ENSG00000197858 ENSG00000197858 HGNC:4446 GRID2 gene GRID2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 18, 616204 25841024 False 1 0;0;100 8.21 False ENSG00000152208 ENSG00000152208 HGNC:4576 GRM1 gene GRM1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 44, OMIM:617691 False 1 25;0;75 8.21 False ENSG00000152822 ENSG00000152822 HGNC:4593 HACE1 gene HACE1 Expert list;Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia;psychomotor retardation;seizure;Spastic paraplegia and psychomotor retardation with or without seizures, 616756 26424145;26437029 False 1 0;0;100 8.21 False ENSG00000085382 ENSG00000085382 HGNC:21033 HFE gene HFE Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Unknown 17828789 False 1 0;50;50 8.21 False ENSG00000010704 ENSG00000010704 HGNC:4886 HPCA gene HPCA Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia 2, torsion, autosomal recessive, 224500;generalized dystonia with additional neurological features;adolescence-onset segmental dystonia;childhood-onset generalized dystonia 30145809;25799108 False 1 0;0;100 8.21 False ENSG00000121905 ENSG00000121905 HGNC:5144 HPRT1 gene HPRT1 Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Lesch-Nyhan syndrome, OMIM:300322 False 1 0;50;50 8.21 False ENSG00000165704 ENSG00000165704 HGNC:5157 HSPD1 gene HSPD1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 13, autosomal dominant, OMIM:605280 18571143;11898127 False 1 0;25;75 8.21 False ENSG00000144381 ENSG00000144381 HGNC:5261 HTRA2 gene HTRA2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Parkinson Disease, Dominant;Parkinson disease 13, 610297;3-methylglutaconic aciduria, type VIII 617248 15961413;27696117;23462481;18364387;27208207;18401856 False 1 50;0;50 8.21 False ENSG00000115317 ENSG00000115317 HGNC:14348 HTT gene HTT Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Other Huntington disease, OMIM:143100 False 1 0;50;50 8.21 False ENSG00000197386 ENSG00000197386 HGNC:4851 IBA57 gene IBA57 Expert Review Red;London North GLH;NHS GMS;South West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal ?Spastic paraplegia 74, autosomal recessive, OMIM:616451 25609768;30258207 False 1 0;20;80 8.21 False ENSG00000181873 ENSG00000181873 HGNC:27302 IPPK gene IPPK Expert Review Red;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Early Onset Complex Disease False 1 0;33;67 8.21 False ENSG00000127080 ENSG00000127080 HGNC:14645 ITPR1 gene ITPR1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 29;Spinocerebellar ataxia 15 False 1 25;0;75 8.21 False Other ENSG00000150995 ENSG00000150995 HGNC:6180 JPH3 gene JPH3 Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Other Huntington disease-like 2, OMIM:606438 False 1 0;50;50 8.21 False ENSG00000154118 ENSG00000154118 HGNC:14203 KCNA1 gene KCNA1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown myokymia with periodic ataxia;Episodic ataxia/myokymia syndrome,;EPISODIC ATAXIA, TYPE 1 17575281 False 1 0;0;100 8.21 False ENSG00000111262 ENSG00000111262 HGNC:6218 KCNJ10 gene KCNJ10 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome False 1 0;0;100 8.21 False ENSG00000177807 ENSG00000177807 HGNC:6256 KCNK18 gene KCNK18 Expert Review Red;London North GLH;NHS GMS;South West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Unknown MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 22355750;20871611 False 1 0;20;80 8.21 False ENSG00000186795 ENSG00000186795 HGNC:19439 KCNQ2 gene KCNQ2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia;Myokymia, 121200 False 1 0;0;100 8.21 False ENSG00000075043 ENSG00000075043 HGNC:6296 KCNQ3 gene KCNQ3 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Seizures, benign neonatal, type 2, 121201 False 1 0;0;100 8.21 False ENSG00000184156 ENSG00000184156 HGNC:6297 KDM5C gene KDM5C Expert list;Expert Review Red;London North GLH;NHS GMS;South West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Intellectual developmental disorder, X-linked syndromic, Claes-Jensen type, OMIM:300534 10982473;15586325;26919706 False 1 0;20;80 8.21 False ENSG00000126012 ENSG00000126012 HGNC:11114 KIDINS220 gene KIDINS220 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia, intellectual disability, nystagmus, and obesity, OMIM:617296 False 1 0;0;100 8.21 False ENSG00000134313 ENSG00000134313 HGNC:29508 KIF1A gene KIF1A Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 30, autosomal dominant, OMIM:610357;Spastic paraplegia 30, autosomal recessive, OMIM:610357;NESCAV syndrome, OMIM:614255 Erlich et al. (2011) False 1 25;0;75 8.21 False ENSG00000130294 ENSG00000130294 HGNC:888 KIF1C gene KIF1C Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 2, autosomal recessive, OMIM:611302 24482476;17273843;24319291 False 1 0;0;100 8.21 False ENSG00000129250 ENSG00000129250 HGNC:6317 KLC4 gene KLC4 Expert list;Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted spastic paraplegia;progressive complicated spastic paraplegia 26423925 False 1 0;50;50 8.21 False ENSG00000137171 ENSG00000137171 HGNC:21624 KMT2B gene KMT2B Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 28, childhood-onset, OMIM:617284;early-onset dystonia 27992417 False 1 0;0;100 8.21 False ENSG00000272333 ENSG00000272333 HGNC:15840 L1CAM gene L1CAM Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females X-linked hydrocephalus, MASA syndrome, Hereditary spastic paraplegia PMID: 7920659 False 1 0;0;100 8.21 False ENSG00000198910 ENSG00000198910 HGNC:6470 L2HGDH gene L2HGDH Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Unknown Dystonia False 1 0;50;50 8.21 False ENSG00000087299 ENSG00000087299 HGNC:20499 MAG gene MAG Expert Review Red;London North GLH;NHS GMS;South West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 75, autosomal recessive, OMIM:616680 24482476;26179919;31402626;32629324;32340215 False 1 0;20;80 8.21 False ENSG00000105695 ENSG00000105695 HGNC:6783 MARS gene MARS Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Novarino et al. (2014) False 1 0;50;50 8.21 False ENSG00000166986 ENSG00000166986 HGNC:6898 MAT1A gene MAT1A Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Unknown Dystonia False 1 0;50;50 8.21 False ENSG00000151224 ENSG00000151224 HGNC:6903 MCOLN1 gene MCOLN1 Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Unknown Dystonia False 1 0;50;50 8.21 False ENSG00000090674 ENSG00000090674 HGNC:13356 MECR gene MECR Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia, childhood-onset, with optic atrophy and basal ganglia abnormalities 617282 False 1 0;0;100 8.21 False ENSG00000116353 ENSG00000116353 HGNC:19691 MMACHC gene MMACHC Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia and hypogonadism;Methylmalonic aciduria and homocystinuria, cblC type, 277400 26283149 False 1 0;0;100 8.21 False ENSG00000132763 ENSG00000132763 HGNC:24525 MMADHC gene MMADHC Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Unknown Dystonia False 1 0;50;50 8.21 False ENSG00000168288 ENSG00000168288 HGNC:25221 MPV17 gene MPV17 Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Unknown Dystonia False 1 0;50;50 8.21 False ENSG00000115204 ENSG00000115204 HGNC:7224 MR1 gene MR1 Expert Review Red;NHS GMS;South West GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia;Paroxysmal/Episodic dystonia False 1 0;33;67 8.21 False ENSG00000153029 ENSG00000153029 HGNC:4975 MRE11 gene MRE11 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia-like disorder;Ataxia-Telangiectasia-Like Disorder False 1 0;0;100 8.21 False ENSG00000020922 ENSG00000020922 HGNC:7230 MT-ATP6 gene MT-ATP6 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MITOCHONDRIAL Neuropathy, Ataxia, and Retinitis Pigmentosa False 1 0;0;100 8.21 False ENSG00000198899 ENSG00000198899 HGNC:7414 MT-ND6 gene MT-ND6 Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MITOCHONDRIAL Leber Optic Atrophy And Dystonia False 1 0;50;50 8.21 False ENSG00000198695 ENSG00000198695 HGNC:7462 MTPAP gene MTPAP Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia, spastic, 4,;Ataxia, spastic, 4;Spastic ataxia 4, autosomal recessive False 1 0;50;50 8.21 False ENSG00000107951 ENSG00000107951 HGNC:25532 MTTP gene MTTP Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Abetalipoproteinemia, 200100 False 1 0;0;100 8.21 False ENSG00000138823 ENSG00000138823 HGNC:7467 MVK gene MVK Expert Review Red;London North GLH;NHS GMS;South West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mevalonic aciduria, OMIM:610377 24896178;26503795 False 1 0;20;80 8.21 False ENSG00000110921 ENSG00000110921 HGNC:7530 NAGLU gene NAGLU Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Sensory neuropathy turning into a mild sensory ataxia (AD). Also Sanfilippo syndrome B (AR) (OMIM #252920) PMID: 25818867 False 1 0;50;50 8.21 False ENSG00000108784 ENSG00000108784 HGNC:7632 NDUFA12 gene NDUFA12 Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 23, OMIM:618244 21617257;33715266;35141356 False 1 0;50;50 8.21 False ENSG00000184752 ENSG00000184752 HGNC:23987 NEFH gene NEFH Expert Review Red;London North GLH;NHS GMS;South West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown susceptibility to amyotrophic lateral sclerosis (ALS) PMID: 24488689 False 1 0;60;40 8.21 False ENSG00000100285 ENSG00000100285 HGNC:7737 NIPA1 gene NIPA1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 6, autosomal dominant;Spasticparaplegia6,autosomaldominant,600363 Rainier et al. (2003) False 1 25;0;75 8.21 False ENSG00000170113 ENSG00000170113 HGNC:17043 NKX2-1 gene NKX2-1 Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Chorea, hereditary benign 118700;Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978 24555207 False 1 0;50;50 8.21 False ENSG00000136352 ENSG00000136352 HGNC:11825 NKX6-2 gene NKX6-2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 15601927;28575651 False 1 0;0;100 8.21 False ENSG00000148826 ENSG00000148826 HGNC:19321 NOP56 gene NOP56 Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Other - please specifiy in evaluation comments Spinocerebellar ataxia 36, OMIM:614153 False 1 0;50;50 8.21 False ENSG00000101361 ENSG00000101361 HGNC:15911 NT5C2 gene NT5C2 Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 45, autosomal recessive, 613162 28884889;24482476;29123918;28327087 False 1 0;0;100 8.21 False ENSG00000076685 ENSG00000076685 HGNC:8022 OPA3 gene OPA3 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Costeff syndrome;3-methylglutaconic aciduria, type III, 258501 25201222;25657044;11668429;20301646;24944951 False 1 0;0;100 8.21 False ENSG00000125741 ENSG00000125741 HGNC:8142 OPHN1 gene OPHN1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 False 1 0;0;100 8.21 False ENSG00000079482 ENSG00000079482 HGNC:8148 PAX2 gene PAX2 Expert Review Red Adult onset neurodegenerative disorder Neurology Unknown Ataxia,spastic2,autosomalrecessive(2) False 1 0;0;0 8.21 False ENSG00000075891 ENSG00000075891 HGNC:8616 PAX6 gene PAX6 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Aniridia, Cerebellar Ataxia, And Mental Retardation False 1 0;0;100 8.21 False ENSG00000007372 ENSG00000007372 HGNC:8620 PCDH12 gene PCDH12 Expert Review Red Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal microcephaly;intellectual disability;perithalamic hyperechogenicity;hypothalamic abnormalities;periventricular hyperechogenicity;epilepsy;midbrain abnormalities 27164683 False 1 0;0;0 8.21 False ENSG00000113555 ENSG00000113555 HGNC:8657 PCLO gene PCLO Expert Review Red Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree. PMID: 25832664 False 1 0;0;0 8.21 False ENSG00000186472 ENSG00000186472 HGNC:13406 PDHX gene PDHX Expert Review Red Adult onset neurodegenerative disorder Neurology Unknown Dystonia False 1 0;0;0 8.21 False ENSG00000110435 ENSG00000110435 HGNC:21350 PDYN gene PDYN Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 23 15306549;21035104 False 1 50;0;50 8.21 False ENSG00000101327 ENSG00000101327 HGNC:8820 PEX16 gene PEX16 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Zellweger syndrome (614876);Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis False 1 0;0;100 8.21 False ENSG00000121680 ENSG00000121680 HGNC:8857 PGAP1 gene PGAP1 Expert Review Red Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Novarino et al. (2014) False 1 0;0;0 8.21 False ENSG00000197121 ENSG00000197121 HGNC:25712 PIK3R5 gene PIK3R5 Expert Review Red Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia-oculomotor apraxia 3 False 1 0;0;0 8.21 False ENSG00000141506 ENSG00000141506 HGNC:30035 PLP1 gene PLP1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Dystonia;Spastic paraplegia 2, X-linked Saugier-Veber et al (1994) False 1 0;0;100 8.21 False ENSG00000123560 ENSG00000123560 HGNC:9086 PMPCA gene PMPCA Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families. PMID:25808372 False 1 0;0;100 8.21 False ENSG00000165688 ENSG00000165688 HGNC:18667 PNKD gene PNKD Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial Paroxysmal Nonkinesigenic Dyskinesia;PAROXYSMAL NONKINESIGENIC DYSKINESIA 1;Paroxysmal nonkinesigenic dyskinesia, 118800 15262732;15496428;15824259;http://www.ncbi.nlm.nih.gov/books/NBK1155/ False 1 0;0;100 8.21 False ENSG00000127838 ENSG00000127838 HGNC:9153 PNKP gene PNKP Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia with oculomotor apraxia 4 (#616267) False 1 0;0;100 8.21 False ENSG00000039650 ENSG00000039650 HGNC:9154 PNPLA6 gene PNPLA6 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470);Spastic paraplegia 39, autosomal recessive;Oliver-McFarlane syndrome (#603197);Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients 24355708;18313024;29749493 False 1 50;0;50 8.21 False ENSG00000032444 ENSG00000032444 HGNC:16268 PNPT1 gene PNPT1 Expert Review Red Adult onset neurodegenerative disorder Neurology Unknown Dystonia False 1 0;0;0 8.21 False ENSG00000138035 ENSG00000138035 HGNC:23166 POLR3A gene POLR3A Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism;Autosomal Recessive Ataxia 25655951;21855841 False 1 0;0;100 8.21 False ENSG00000148606 ENSG00000148606 HGNC:30074 PPP2R2B gene PPP2R2B Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Other Spinocerebellar ataxia 12, OMIM:604326 False 1 0;50;50 8.21 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000156475 ENSG00000156475 HGNC:9305 PRICKLE1 gene PRICKLE1 Expert Review Red Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1B, OMIM:612437 False 1 0;0;0 8.21 False ENSG00000139174 ENSG00000139174 HGNC:17019 PRKCG gene PRKCG Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 14 29603387;12644968 False 1 50;0;50 8.21 False ENSG00000126583 ENSG00000126583 HGNC:9402 PRRT2 gene PRRT2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown dystonia and occasionally hemiplegic migraine and epilepsy;episodic kinesigenic dyskinesia;EPISODIC KINESIGENIC DYSKINESIA 1;CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS;Paroxysmal kinesigenic choreoathetosis (PKD1) and infantile convulsions;SEIZURES, BENIGN FAMILIAL INFANTILE, 2;Episodic kinesigenic dyskinesia 1, 128200 22120146;22399141;http://www.ncbi.nlm.nih.gov/books/NBK1155/;22101681;22744660 False 1 0;0;100 8.21 False ENSG00000167371 ENSG00000167371 HGNC:30500 PTEN gene PTEN Expert Review Red Adult onset neurodegenerative disorder Neurology Unknown Dystonia False 1 0;0;0 8.21 False ENSG00000171862 ENSG00000171862 HGNC:9588 PTS gene PTS Expert Review Red Adult onset neurodegenerative disorder Neurology Unknown Dystonia False 1 0;0;0 8.21 False ENSG00000150787 ENSG00000150787 HGNC:9689 QDPR gene QDPR Expert Review Red Adult onset neurodegenerative disorder Neurology Unknown Dystonia False 1 0;0;0 8.21 False ENSG00000151552 ENSG00000151552 HGNC:9752 RAB39B gene RAB39B Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) early-onset parkinsonism and intellectual disability;Waisman syndrome, OMIM:311510 27066548;27694831;26399558;27459931;28851564;2639955;25434005 False 1 25;25;50 8.21 False ENSG00000155961 ENSG00000155961 HGNC:16499 RAB3GAP2 gene RAB3GAP2 Expert list;Expert Review Red Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Martsolf syndrome 1, OMIM:212720 24482476 False 1 0;0;0 8.21 False ENSG00000118873 ENSG00000118873 HGNC:17168 RARS2 gene RARS2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal epilepsy;Pontocerebellar hypoplasia False 1 0;0;100 8.21 False ENSG00000146282 ENSG00000146282 HGNC:21406 REEP1 gene REEP1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 31, autosomal dominant Zuchner et al. (2006) False 1 25;0;75 8.21 False ENSG00000068615 ENSG00000068615 HGNC:25786 REEP2 gene REEP2 Expert Review Red;London North GLH;NHS GMS;South West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Spastic paraplegia 72, autosomal recessive, 615625;?Spastic paraplegia 72, autosomal dominant,615625 24388663 False 1 0;20;80 8.21 False ENSG00000132563 ENSG00000132563 HGNC:17975 RELN gene RELN Expert Review Red Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 8.21 False ENSG00000189056 ENSG00000189056 HGNC:9957 RNASEH2A gene RNASEH2A Expert Review Red Adult onset neurodegenerative disorder Neurology Unknown Dystonia False 1 0;0;0 8.21 False ENSG00000104889 ENSG00000104889 HGNC:18518 RNASEH2B gene RNASEH2B Expert Review Red Adult onset neurodegenerative disorder Neurology Unknown Aicardi-Goutieres syndrome 2, OMIM:610181;Dystonia (onset in infancy) False 1 0;0;0 8.21 False ENSG00000136104 ENSG00000136104 HGNC:25671 RNASEH2C gene RNASEH2C Expert Review Red Adult onset neurodegenerative disorder Neurology Unknown Dystonia False 1 0;0;0 8.21 False ENSG00000172922 ENSG00000172922 HGNC:24116 RNF170 gene RNF170 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ataxia, sensory, 1, autosomal dominant False 1 25;0;75 8.21 False ENSG00000120925 ENSG00000120925 HGNC:25358 RTN2 gene RTN2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 12, autosomal dominant Montenegro et al. (2012) False 1 25;0;75 8.21 False ENSG00000125744 ENSG00000125744 HGNC:10468 RUBCN gene RUBCN Expert Review Red Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal PMID: 20826435 False 1 0;0;0 8.21 False ENSG00000145016 ENSG00000145016 HGNC:28991 SACS gene SACS Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia, Charlevoix-Saguenay type False 1 0;0;100 8.21 False ENSG00000151835 ENSG00000151835 HGNC:10519 SAMHD1 gene SAMHD1 Expert Review Red Adult onset neurodegenerative disorder Neurology Unknown Dystonia False 1 0;0;0 8.21 False ENSG00000101347 ENSG00000101347 HGNC:15925 SAR1B gene SAR1B Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Chylomicron retention disease 246700 False 1 0;0;100 8.21 False ENSG00000152700 ENSG00000152700 HGNC:10535 SCN1A gene SCN1A Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted several epilepsy, convulsion and migraine disorders.;familial hemiplegic migraine 3;Dravet syndrome 16054936;19332696 False 1 0;0;100 8.21 False ENSG00000144285 ENSG00000144285 HGNC:10585 SCN8A gene SCN8A Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown epilepsy;Cognitive impairment with or without cerebellar ataxia, 614306;paroxysmal kinesigenic dyskinesias 26677014 False 1 0;0;100 8.21 False ENSG00000196876 ENSG00000196876 HGNC:10596 SCN9A gene SCN9A Expert Review Red Adult onset neurodegenerative disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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 False 1 0;0;0 8.21 False ENSG00000169432 ENSG00000169432 HGNC:10597 SCP2 gene SCP2 Expert Review Red Adult onset neurodegenerative disorder Neurology Unknown Leukoencephalopathy with dystonia and motor neuropathy, 613724 PMID: 16685654 False 1 0;0;0 8.21 False ENSG00000116171 ENSG00000116171 HGNC:10606 SDHAF1 gene SDHAF1 Expert Review Red Adult onset neurodegenerative disorder Neurology Unknown Dystonia False 1 0;0;0 8.21 False ENSG00000205138 ENSG00000205138 HGNC:33867 SEPSECS gene SEPSECS Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2D (613811) False 1 0;0;100 8.21 False ENSG00000109618 ENSG00000109618 HGNC:30605 SERAC1 gene SERAC1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 22683713;28778788;27604308;16527507;28482397;29205472;27186703 False 1 0;0;100 8.21 False ENSG00000122335 ENSG00000122335 HGNC:21061 SGCE gene SGCE Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Myoclonus dystonia syndrome;Myoclonus-Dystonia;maternally imprinted Dystonia-11, myoclonic, 159900 12325078;11528394;http://www.ncbi.nlm.nih.gov/books/NBK1155/;23332219;22626943 False 1 25;50;25 8.21 False ENSG00000127990 ENSG00000127990 HGNC:10808 SGIP1 gene SGIP1 Literature Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Early-onset parkinsonism 39332416 False 1 0;0;0 8.21 False ENSG00000118473 ENSG00000118473 HGNC:25412 SIL1 gene SIL1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Marinesco-Sjogren syndrome, 248800 False 1 0;0;100 8.21 False ENSG00000120725 ENSG00000120725 HGNC:24624 SLC16A2 gene SLC16A2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Allan-Herndon-Dudley syndrome, OMIM:300523 Friesema et al. (2003) False 1 0;0;100 8.21 False ENSG00000147100 ENSG00000147100 HGNC:10923 SLC19A3 gene SLC19A3 Expert Review Red Adult onset neurodegenerative disorder Neurology Unknown Dystonia False 1 0;0;0 8.21 False ENSG00000135917 ENSG00000135917 HGNC:16266 SLC1A3 gene SLC1A3 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPISODIC ATAXIA, TYPE 6;Episodic ataxia, type 6, 16116111;27829685;19139306 False 1 0;0;100 8.21 False ENSG00000079215 ENSG00000079215 HGNC:10941 SLC1A4 gene SLC1A4 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 29989513;26138499;27193218;26041762;25930971 False 1 0;0;100 8.21 False ENSG00000115902 ENSG00000115902 HGNC:10942 SLC25A46 gene SLC25A46 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Neuropathy, hereditary motor and sensory, type VIB 616505 26168012;28369803 False 1 0;25;75 8.21 False ENSG00000164209 ENSG00000164209 HGNC:25198 SLC2A1 gene SLC2A1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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 19630075;18451999;18577546;11136715;21832227;18606970;27725288 False 1 0;0;100 8.21 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC33A1 gene SLC33A1 Expert Review Red Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 42, autosomal dominant, Lin et al. (2008) False 1 0;0;0 8.21 False ENSG00000169359 ENSG00000169359 HGNC:95 SLC39A14 gene SLC39A14 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 2 617013 27231142 False 1 25;0;75 8.21 False ENSG00000104635 ENSG00000104635 HGNC:20858 SLC41A1 gene SLC41A1 Expert Review Red Adult onset neurodegenerative disorder Neurology Unknown Parkinson disease (Yan (2011) Int J Neurosci 121,632) 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 False 1 0;0;0 8.21 False ENSG00000133065 ENSG00000133065 HGNC:19429 SLC46A1 gene SLC46A1 Expert Review Red Adult onset neurodegenerative disorder Neurology Unknown Dystonia False 1 0;0;0 8.21 False ENSG00000076351 ENSG00000076351 HGNC:30521 SLC52A1 gene SLC52A1 Expert Review Red Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Riboflavin deficiency (condition resembling childhood-onset motor neurone disease) False 1 0;0;0 8.21 False ENSG00000132517 ENSG00000132517 HGNC:30225 SLC52A2 gene SLC52A2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Brown-Vialetto-Van Laere syndrome 2 False 1 0;0;100 8.21 False ENSG00000185803 ENSG00000185803 HGNC:30224 SLC52A3 gene SLC52A3 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Fazio-Londe disease;Brown-Vialetto-Van Laere syndrome 1 False 1 0;25;75 8.21 False ENSG00000101276 ENSG00000101276 HGNC:16187 SLC6A3 gene SLC6A3 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Parkinsonism-dystonia, infantile, 613135;{Nicotine dependence, protection against}, 188890 24613933;21777827;19478460 False 1 50;0;50 8.21 False ENSG00000142319 ENSG00000142319 HGNC:11049 SLC6A5 gene SLC6A5 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 3, 614618 16751771 False 1 0;0;100 8.21 False ENSG00000165970 ENSG00000165970 HGNC:11051 SLC9A6 gene SLC9A6 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked syndromic, Christianson type, 300243 False 1 0;0;100 8.21 False ENSG00000198689 ENSG00000198689 HGNC:11079 SNCAIP gene SNCAIP Expert Review Red Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson Disease, Dominant/Recessive False 1 0;0;0 8.21 False ENSG00000064692 ENSG00000064692 HGNC:11139 SNX14 gene SNX14 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Autosomal recessive spinocerebellar ataxia (#616354) False 1 0;0;100 8.21 False ENSG00000135317 ENSG00000135317 HGNC:14977 SPART gene SPART Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Troyer syndrome, OMIM:275900 Patel et al. (2002 False 1 0;0;100 8.21 False ENSG00000133104 ENSG00000133104 HGNC:18514 SPR gene SPR Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 http://www.ncbi.nlm.nih.gov/books/NBK1155/;22522443 False 1 0;0;100 8.21 False ENSG00000116096 ENSG00000116096 HGNC:11257 SPTBN2 gene SPTBN2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia 5, OMIM:600224;Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386 False 1 25;0;75 8.21 False ENSG00000173898 ENSG00000173898 HGNC:11276 SRD5A3 gene SRD5A3 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iq, 612379;Kahrizi syndrome, 612713 False 1 0;0;100 8.21 False ENSG00000128039 ENSG00000128039 HGNC:25812 SUCLA2 gene SUCLA2 Expert Review Red Adult onset neurodegenerative disorder Neurology Unknown Dystonia False 1 0;0;0 8.21 False ENSG00000136143 ENSG00000136143 HGNC:11448 SUOX gene SUOX Expert Review Red Adult onset neurodegenerative disorder Neurology Unknown Dystonia False 1 0;0;0 8.21 False ENSG00000139531 ENSG00000139531 HGNC:11460 SYNE1 gene SYNE1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar Ataxia;Spinocerebellar ataxia, autosomal recessive 8 27197992;25681989;27086870 False 1 50;0;50 8.21 False ENSG00000131018 ENSG00000131018 HGNC:17089 SYT14 gene SYT14 Expert Review Red Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellarataxia,autosomalrecessive11,614229 False 1 0;0;0 8.21 False ENSG00000143469 ENSG00000143469 HGNC:23143 TAF15 gene TAF15 Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 22065782;26601740 False 1 50;0;50 8.21 False ENSG00000172660 ENSG00000270647 HGNC:11547 TBP gene TBP Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology Other Spinocerebellar ataxia 17, OMIM:607136;{Parkinson disease, susceptibility to}, OMIM:168600 False 1 0;50;50 8.21 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000112592 ENSG00000112592 HGNC:11588 TDP1 gene TDP1 Expert Review Red Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive with axonal neuropathy False 1 0;0;0 8.21 False ENSG00000042088 ENSG00000042088 HGNC:18884 TECPR2 gene TECPR2 Expert Review Red Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 49, autosomal recessive, 615031 23176824;26542466 False 1 0;0;0 8.21 False ENSG00000196663 ENSG00000196663 HGNC:19957 TET2 gene TET2 Literature Adult onset neurodegenerative disorder Neurology Unknown 31943063 False 1 0;0;0 8.21 False ENSG00000168769 ENSG00000168769 HGNC:25941 TFG gene TFG Expert Review Red Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 57, autosomal recessive, OMIM:615658 Beetz et al. (2013) False 1 0;0;0 8.21 False ENSG00000114354 ENSG00000114354 HGNC:11758 TGM6 gene TGM6 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 35, 613908 False 1 25;0;75 8.21 False ENSG00000166948 ENSG00000166948 HGNC:16255 TH gene TH Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Segawa syndrome;DOPA-responsive dystonia;infantile parkinsonism;Segawa syndrome, recessive, 605407;paediatric form of dopa responsive dystonia http://www.ncbi.nlm.nih.gov/books/NBK1155/ False 1 0;0;100 8.21 False ENSG00000180176 ENSG00000180176 HGNC:11782 THAP1 gene THAP1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia;Dystonia 6, torsion, 602629;DYT6 21793105;http://www.ncbi.nlm.nih.gov/books/NBK1155/ False 1 25;0;75 8.21 False ENSG00000131931 ENSG00000131931 HGNC:20856 TIA1 gene TIA1 London North GLH;NHS GMS Adult onset neurodegenerative disorder Neurology False 1 0;50;50 8.21 False ENSG00000116001 ENSG00000116001 HGNC:11802 TIMM8A gene TIMM8A Expert Review Red Adult onset neurodegenerative disorder Neurology Unknown Deafness-Dystonia-Optic Neuronopathy Syndrome False 1 0;0;0 8.21 False ENSG00000126953 ENSG00000126953 HGNC:11817 TOR1A gene TOR1A Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia-1, torsion, OMIM:128100;Dystonic disorder, MONDO:0003441 17503336;16537570;11523564;9288096;http://www.ncbi.nlm.nih.gov/books/NBK1155/;20301665 False 1 0;25;75 8.21 False ENSG00000136827 ENSG00000136827 HGNC:3098 TPK1 gene TPK1 Expert Review Red Adult onset neurodegenerative disorder Neurology Unknown Dystonia False 1 0;0;0 8.21 False ENSG00000196511 ENSG00000196511 HGNC:17358 TPP1 gene TPP1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 2, 204500;Spinocerebellar ataxia, autosomal recessive 7, 609270 False 1 0;0;100 8.21 False ENSG00000166340 ENSG00000166340 HGNC:2073 TSEN2 gene TSEN2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 2B, 612389 False 1 0;0;100 8.21 False ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN34 gene TSEN34 Expert Review Red Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 2C (612390) False 1 0;0;0 8.21 False ENSG00000170892 ENSG00000170892 HGNC:15506 TSEN54 gene TSEN54 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 2A, 277470;Pontocerebellar hypoplasia 4, 225753 False 1 0;0;100 8.21 False ENSG00000182173 ENSG00000182173 HGNC:27561 TTBK2 gene TTBK2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 11 False 1 25;0;75 8.21 False ENSG00000128881 ENSG00000128881 HGNC:19141 TTPA gene TTPA Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia with isolated vitamin E deficiency;Ataxia with Vitamin E Deficiency False 1 0;0;100 8.21 False ENSG00000137561 ENSG00000137561 HGNC:12404 TWNK gene TWNK Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 (AR);Perrault syndrome 5, OMIM:616138 (AR);Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 (AD) 19513767 False 1 25;0;75 8.21 False ENSG00000107815 ENSG00000107815 HGNC:1160 UBR4 gene UBR4 Expert Review Red Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia PMID: 23982692 False 1 0;0;0 8.21 False ENSG00000127481 ENSG00000127481 HGNC:30313 UCHL1 gene UCHL1 Expert Review Red Adult onset neurodegenerative disorder Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal {?Parkinson disease 5, susceptibility to}, OMIM:613643;Parkinson disease 5, autosomal dominant, susceptibility to, MONDO:0013340;Spastic paraplegia 79B, autosomal recessive, OMIM:615491;early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome, MONDO:0014209;Spastic paraplegia 79A, autosomal dominant, OMIM:620221 23359680;35986737 False 1 0;0;0 8.21 False ENSG00000154277 ENSG00000154277 HGNC:12513 UNC13A gene UNC13A Expert Review Red Adult onset neurodegenerative disorder Neurology Unknown 35197628 False 1 0;0;0 8.21 False ENSG00000130477 ENSG00000130477 HGNC:23150 USP8 gene USP8 Expert Review Red Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Novarino et al. (2014) False 1 0;0;0 8.21 False ENSG00000138592 ENSG00000138592 HGNC:12631 VAC14 gene VAC14 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Striatonigral degeneration, childhood-onset 617054 False 1 0;0;100 8.21 False ENSG00000103043 ENSG00000103043 HGNC:25507 VAMP1 gene VAMP1 Expert Review Red;London North GLH;NHS GMS;South West GLH;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic ataxia 1, autosomal dominant, 108600 22958904 False 1 0;20;80 8.21 False ENSG00000139190 ENSG00000139190 HGNC:12642 VEGFA gene VEGFA Expert Review Red Adult onset neurodegenerative disorder Neurology Unknown False 1 0;0;0 8.21 False ENSG00000112715 ENSG00000112715 HGNC:12680 VLDLR gene VLDLR Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 False 1 0;0;100 8.21 False ENSG00000147852 ENSG00000147852 HGNC:12698 VPS13D gene VPS13D Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 4, OMIM:607317 False 1 25;0;75 8.21 False ENSG00000048707 ENSG00000048707 HGNC:23595 VPS37A gene VPS37A Expert Review Red Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia;Spastic paraplegia 53, autosomal recessive Zivony-Elboum et al. (2012) False 1 0;0;0 8.21 False ENSG00000155975 ENSG00000155975 HGNC:24928 VPS53 gene VPS53 Expert Review Red;NHS GMS;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 2E (#615851) 24577744 False 1 0;50;50 8.21 False ENSG00000141252 ENSG00000141252 HGNC:25608 WASHC5 gene WASHC5 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 8, autosomal dominant Valdmanis et al. (2007) False 1 25;0;75 8.21 False ENSG00000164961 ENSG00000164961 HGNC:28984 WDR45B gene WDR45B Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with spastic quadriplegia and brain abnormalities with or without seizures, OMIM:617977 21937992;28503735 False 1 0;0;100 8.21 False ENSG00000141580 ENSG00000141580 HGNC:25072 WDR48 gene WDR48 Expert Review Red Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Novarino et al. (2014) False 1 0;0;0 8.21 False ENSG00000114742 ENSG00000114742 HGNC:30914 WDR73 gene WDR73 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature;Galloway-Mowat syndrome 1, 251300 False 1 0;0;100 8.21 False ENSG00000177082 ENSG00000177082 HGNC:25928 WDR81 gene WDR81 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 False 1 0;0;100 8.21 False ENSG00000167716 ENSG00000167716 HGNC:26600 WFS1 gene WFS1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome 1, 222300 False 1 0;0;100 8.21 False ENSG00000109501 ENSG00000109501 HGNC:12762 WWOX gene WWOX Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Autosomal recessive spinocerebellar ataxia 12, 614322 False 1 0;0;100 8.21 False ENSG00000186153 ENSG00000186153 HGNC:12799 XRCC1 gene XRCC1 Expert Review Red Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 26, OMIM:617633 28002403 False 1 0;0;0 8.21 False ENSG00000073050 ENSG00000073050 HGNC:12828 YY1 gene YY1 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gabriele-de Vries syndrome 617557 28575647 False 1 0;0;100 8.21 False ENSG00000100811 ENSG00000100811 HGNC:12856 ZEB2 gene ZEB2 Expert Review Red Adult onset neurodegenerative disorder Neurology Unknown False 1 0;0;0 8.21 False ENSG00000169554 ENSG00000169554 HGNC:14881 ZFYVE26 gene ZFYVE26 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH;Yorkshire and North East GLH Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 15, autosomal recessive;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. PMID:25497598;25842392;Hanein et al. (2008) False 1 0;25;75 8.21 False ENSG00000072121 ENSG00000072121 HGNC:20761 ZFYVE27 gene ZFYVE27 Expert Review Red Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 33, autosomal dominant Mannan AU (2006) False 1 0;0;0 8.21 False ENSG00000155256 ENSG00000155256 HGNC:26559 ZNF592 gene ZNF592 Expert Review Red Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 5 False 1 0;0;0 8.21 False ENSG00000166716 ENSG00000166716 HGNC:28986 AR_CAG str AR Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green;Expert list Adult onset neurodegenerative disorder Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200 False 3 100;0;0 8.21 False ENSG00000169083 ENSG00000169083 HGNC:644 X 66765160 66765225 67545316 67545383 CAG 35 38 ATN1_CAG str ATN1 Expert Review Green;Yorkshire and North East GLH;NHS GMS;South West GLH;London North GLH;Expert list Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dentatorubral-pallidoluysian atrophy, OMIM:125370 20301664;8136826;8136840;7614090 False 3 100;0;0 8.21 False ENSG00000111676 ENSG00000111676 HGNC:3033 12 7045880 7045936 6936717 6936772 CAG 36 48 ATXN10_ATTCT str ATXN10 Expert Review Green;NHS GMS;South West GLH;London North GLH;Expert list Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 10, OMIM:603516;spinocerebellar ataxia type 10, MONDO:0011330 12164725;17420323;15505178;35441258;36199580;40067487 False 3 100;0;0 8.21 False ENSG00000130638 ENSG00000130638 HGNC:10549 22 46191235 46191304 45795355 45795424 ATTCT 33 800 ATXN2_CAG str ATXN2 Expert Review Green;Yorkshire and North East GLH;NHS GMS;South West GLH;London North GLH;Expert list Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 2, OMIM:183090;{Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090;{Parkinson disease, late-onset, susceptibility to}, OMIM:168600 20740007;21479228;21537950;21562247;21610160 False 3 100;0;0 8.21 False ENSG00000204842 ENSG00000204842 HGNC:10555 12 112036755 112036823 111598951 111599019 CAG 32 35 ATXN7_CAG str ATXN7 Expert Review Green;Yorkshire and North East GLH;NHS GMS;South West GLH;London North GLH;Expert list Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 7, OMIM:164500;autosomal dominant cerebellar ataxia type II, MONDO:0016163 False 3 100;0;0 8.21 False ENSG00000163635 ENSG00000163635 HGNC:10560 3 63898362 63898391 63912686 63912715 CAG 28 37 C9orf72_GGGGCC str C9orf72 Yorkshire and North East GLH;NHS GMS;South West GLH;London North GLH;Expert Review Green;Expert list Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 False 3 100;0;0 8.21 False ENSG00000147894 ENSG00000147894 HGNC:28337 9 27573527 27573544 27573529 27573546 GGGGCC 24 200 CACNA1A_CAG str CACNA1A Expert Review Green;NHS GMS;Yorkshire and North East GLH;Expert list Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 6, OMIM:183086;spinocerebellar ataxia type 6, MONDO:0008457 9311738;18285829;19817876;16595610;8988170 False 3 100;0;0 8.21 False ENSG00000141837 ENSG00000141837 HGNC:1388 19 13318673 13318711 13207859 13207897 CAG 19 20 HTT_CAG str HTT Expert Review Green;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert list Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Huntington disease, OMIM:143100 False 3 100;0;0 8.21 False ENSG00000197386 ENSG00000197386 HGNC:4851 4 3076604 3076666 3074877 3074939 CAG 36 40 JPH3_CTG str JPH3 Expert Review Green;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert list Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Huntington disease-like 2, OMIM:606438 False 3 100;0;0 8.21 False ENSG00000154118 ENSG00000154118 HGNC:14203 16 87637894 87637932 87604288 87604326 CTG 29 40 NOP56_GGCCTG str NOP56 Expert Review Green;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert list Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 36, OMIM:614153 False 3 100;0;0 8.21 False ENSG00000101361 ENSG00000101361 HGNC:15911 20 2633380 2633403 2652734 2652757 GGCCTG 15 650 TBP_CAG str TBP Expert Review Green;NHS GMS;Yorkshire and North East GLH;Expert list Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 17, OMIM:607136;{Parkinson disease, susceptibility to}, OMIM:168600 20301611;34906452;35493319 False 3 100;0;0 8.21 False ENSG00000112592 ENSG00000112592 HGNC:11588 6 170870996 170871109 170561908 170562021 CAG 41 49 ATXN1_CAG str ATXN1 Expert Review Amber;NHS GMS;South West GLH;London North GLH;Expert list Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 1, OMIM:164400 False 2 100;0;0 8.21 False ENSG00000124788 ENSG00000124788 HGNC:10548 6 16327867 16327953 16327636 16327722 CAG 36 45 ATXN3_CAG str ATXN3 Expert Review Amber;Yorkshire and North East GLH;NHS GMS;South West GLH;London North GLH;Expert list Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Machado-Joseph disease, OMIM:109150 False 2 100;0;0 8.21 False ENSG00000066427 ENSG00000066427 HGNC:7106 14 92537355 92537396 92071011 92071052 CAG 45 60 CSTB_CCCCGCCCCGCG str CSTB NHS GMS;Expert Review Amber;Yorkshire and North East GLH;Expert list Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 False 2 0;0;100 8.21 False ENSG00000160213 ENSG00000160213 HGNC:2482 21 45196328 45196351 43776429 43776470 CCCCGCCCCGCG 18 30 FXN_GAA str FXN NHS GMS;Expert Review Amber;Yorkshire and North East GLH;Expert list Adult onset neurodegenerative disorder Neurology BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia, OMIM:229300;Friedreich ataxia with retained reflexes, OMIM:229300 False 2 0;0;100 8.21 False ENSG00000165060 ENSG00000165060 HGNC:3951 9 71652203 71652220 69037287 69037304 GAA 44 66 PPP2R2B_CAG str PPP2R2B Expert Review Amber;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert list Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 12, OMIM:604326 20301381 False 2 100;0;0 8.21 False ENSG00000156475 ENSG00000156475 HGNC:9305 5 146258292 146258321 146878729 146878758 CAG 33 43 ISCA-37446-Loss region Expert Review Green;NHS GMS Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted DiGeorge syndrome, OMIM:188400;Parkinsonism, HP:0001300 24018986;27017469 False 3 50;50;0 8.21 False 22 18924718 21111383 3 60 cnv_loss 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss ISCA-37478-Loss region Expert Review Green;NHS GMS;London North GLH Adult onset neurodegenerative disorder Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 105830;Angelman syndrome;Developmental delay, muscle weakness;Mental retardation;176270;microcephaly;Prader-Willi syndrome 7611294;22045295 False 3 50;0;50 8.21 False 15 23465365 28134728 3 60 cnv_loss 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss