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 50;50;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 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