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 AAAS gene AAAS NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Achalasia-addisonianism-alacrimia syndrome, OMIM:231550;Triple-A syndrome, MONDO:0009279 False 3 50;50;0 9.4 False ENSG00000094914 ENSG00000094914 HGNC:13666 ABCD1 gene ABCD1 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green;Expert list Adult-onset neurological disorders 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 9.4 False ENSG00000101986 ENSG00000101986 HGNC:61 ABCD1 gene ABCD1 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Adrenoleukodystrophy, OMIM:300100;Adrenoleukodystrophy, adult, OMIM:300100;Adrenal failure;VLCFA accumulation;Spastic paraparesis 61263;17372139 False 3 67;33;0 9.4 False ENSG00000101986 ENSG00000101986 HGNC:61 ABHD12 gene ABHD12 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract;Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC);Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract, 612674 False 3 67;33;0 9.4 False ENSG00000100997 ENSG00000100997 HGNC:15868 ACTB gene ACTB Expert Review Green;NHS GMS;South West GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia, juvenile-onset, OMIM:607371;developmental malformations-deafness-dystonia syndrome MONDO:0011823;Baraitser-Winter syndrome 1 OMIM:243310:Baraitser-Winter syndrome 1 MONDO:0009470 28849312;16685646;27862284;28487785;29788902 False 3 50;50;0 9.4 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000075624 ENSG00000075624 HGNC:132 ADAR gene ADAR Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Aicardi-Goutieres syndrome 6, OMIM:615010 25243380;25604658 False 3 33;67;0 9.4 False ENSG00000160710 ENSG00000160710 HGNC:225 ADCY5 gene ADCY5 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Brain channelopathy v1.46 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial dyskinesia 606703;Dyskinesia with facial myokymia 11310626;24700542 False 3 67;33;0 9.4 False ENSG00000173175 ENSG00000173175 HGNC:236 AFG3L2 gene AFG3L2 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False Other ENSG00000141385 ENSG00000141385 HGNC:315 AFG3L2 gene AFG3L2 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia 28, OMIM:610246;Spastic ataxia 5, autosomal recessive, OMIM:614487 False 3 67;33;0 9.4 False Other - please provide details in the comments ENSG00000141385 ENSG00000141385 HGNC:315 AFG3L2 gene AFG3L2 Expert Review Green;NHS GMS;South West GLH Adult-onset neurological disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia 28, OMIM:610246;Spastic ataxia 5, autosomal recessive, OMIM:614487 False 3 50;50;0 9.4 False ENSG00000141385 ENSG00000141385 HGNC:315 ALDH18A1 gene ALDH18A1 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 9B, autosomal recessive 616586;SPG9;ADCL3 AUTOSOMAL RECESSIVE MENTAL RETARDATION-JOINT HYPERMOBILITY-SKIN LAXITY WITH OR WITHOUT METABOLIC ABNORMALITIES (MRJHSL) SPASTIC PARAPLEGIA 9, AUTOSOMAL DOMINANT;Cutis laxa, autosomal dominant 3 616603;Spastic paraplegia 9A, autosomal dominant 601162;Cutis laxa, autosomal recessive, type IIIA 219150 26026163;26297558 False 3 67;33;0 9.4 False ENSG00000059573 ENSG00000059573 HGNC:9722 ALS2 gene ALS2 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000003393 ENSG00000003393 HGNC:443 ANG gene ANG Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 9, 611895 16501576;26753798;17886298;26255299 False 3 75;25;0 9.4 False ENSG00000214274 ENSG00000214274 HGNC:483 ANO10 gene ANO10 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia autosomal recessive type 10, 613728;Spinocerebellar ataxia, autosomal recessive 10 False 3 67;33;0 9.4 False ENSG00000160746 ENSG00000160746 HGNC:25519 ANO3 gene ANO3 NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 24 OMIM:615034;dystonia 24 MONDO:0014019 27392807;24094724;24442708;25847575;24151159;23200863 False 3 50;50;0 9.4 False ENSG00000134343 ENSG00000134343 HGNC:14004 ANXA11 gene ANXA11 NHS GMS;Yorkshire and North East GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 23, OMIM:617839 28469040;30337194;29845112 False 3 100;0;0 9.4 False ENSG00000122359 ENSG00000122359 HGNC:535 AP5Z1 gene AP5Z1 Expert Review Green;Yorkshire and North East GLH;South West GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic Paraplegia, Recessive;Spastic paraplegia 48, autosomal recessive, 613647;Spastic paraplegia 48, autosomal recessive 27606357;20613862;24833714 False 3 75;25;0 9.4 False ENSG00000242802 ENSG00000242802 HGNC:22197 APP gene APP Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000142192 ENSG00000142192 HGNC:620 APTX gene APTX NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia OMIM:208920;ataxia with oculomotor apraxia type 1 MONDO:0008842 False 3 50;50;0 9.4 False ENSG00000137074 ENSG00000137074 HGNC:15984 APTX gene APTX NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia;Ataxia with Oculomotor Apraxia;Early onset ataxia with oculomotor apraxia and hypoalbuminemia False 3 50;50;0 9.4 False ENSG00000137074 ENSG00000137074 HGNC:15984 ARMC9 gene ARMC9 London North GLH;NHS GMS;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30, 617622 11347906;28625504 False 3 50;50;0 9.4 False ENSG00000135931 ENSG00000135931 HGNC:20730 ARSA gene ARSA Expert Review Green;NHS GMS;South West GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy, OMIM:250100;metachromatic leukodystrophy, juvenile form, MONDO:0009591 20301334;1670590;9600244;1673291;1684088;31684987 False 3 50;50;0 9.4 False ENSG00000100299 ENSG00000100299 HGNC:713 ARSA gene ARSA Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy, OMIM:250100;Dystonia False 3 75;25;0 9.4 False ENSG00000100299 ENSG00000100299 HGNC:713 ARSA gene ARSA London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy (#250100);Metachromatic Leukodystrophy, 250100 False 3 33;33;33 9.4 False ENSG00000100299 ENSG00000100299 HGNC:713 ATCAY gene ATCAY London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia, cerebellar, Cayman type OMIM:601238;Cayman type cerebellar ataxia MONDO:0011025 29449188;14556008;23226316;26343454 False 3 67;33;0 9.4 False ENSG00000167654 ENSG00000167654 HGNC:779 ATL1 gene ATL1 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 3A, 182600 autosomal dominant;Spastic Paraplegia, Dominant;Neuropathy, hereditary sensory, type ID, 613708 11685207;15517445;35925862 False 3 67;33;0 9.4 False ENSG00000198513 ENSG00000198513 HGNC:11231 ATM gene ATM NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia OMIM:208900;ataxia telangiectasia MONDO:0008840 False 3 50;50;0 9.4 False ENSG00000149311 ENSG00000149311 HGNC:795 ATM gene ATM NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia, OMIM:208900 False 3 50;50;0 9.4 False ENSG00000149311 ENSG00000149311 HGNC:795 ATP13A2 gene ATP13A2 NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Kufor-Rakeb Syndrome OMIM:606693;Kufor-Rakeb syndrome MONDO:0011706 21060012 False 3 50;50;0 9.4 False ENSG00000159363 ENSG00000159363 HGNC:30213 ATP13A2 gene ATP13A2 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000159363 ENSG00000159363 HGNC:30213 ATP13A2 gene ATP13A2 Yorkshire and North East GLH;South West GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Kufor-Rakeb syndrome, 606693 AR;Adult-onset lower-limb predominant spastic paraparesis;Spastic paraplegia 78, autosomal recessive, 617225;complicated hereditary spastic paraplegia 28137957;27217339;27165006 False 3 50;50;0 9.4 False ENSG00000159363 ENSG00000159363 HGNC:30213 ATP1A2 gene ATP1A2 NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted familial basilar migraine OMIM:602481;familial hemiplegic migraine type 2 OMIM:602481;migraine, familial hemiplegic, 2 MONDO:0011232;alternating hemiplegia of childhood OMIM:104290;alternating hemiplegia of childhood 1 MONDO:0007087 12539047;12953268;18056581 False 3 50;50;0 9.4 False ENSG00000018625 ENSG00000018625 HGNC:800 ATP1A2 gene ATP1A2 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Brain channelopathy v1.46 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alternating hemiplegia of childhood 1, 104290;Familial hemiplegic migraine 2, 602481 12539047;12953268;18056581 False 3 33;67;0 9.4 False ENSG00000018625 ENSG00000018625 HGNC:800 ATP1A3 gene ATP1A3 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000105409 ENSG00000105409 HGNC:801 ATP1A3 gene ATP1A3 NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alternating hemiplegia of childhood 2 OMIM:614820;alternating hemiplegia of childhood 2 MONDO:0013900;CAPOS syndrome OMIM:601338;cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome MONDO:0011038;Dystonia-12 OMIM:128235;dystonia 12 MONDO:0007496 22842232;http://www.ncbi.nlm.nih.gov/books/NBK1155/;22850527 False 3 50;50;0 9.4 False ENSG00000105409 ENSG00000105409 HGNC:801 ATP1A3 gene ATP1A3 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Brain channelopathy v1.46;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338);Alternating hemiplegia of childhood 2, 614820;Dystonia-12, 128235;Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235);ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820;CAPOS syndrome, 601338;DYSTONIA 12, 128235 22842232;22850527 False 3 67;33;0 9.4 False ENSG00000105409 ENSG00000105409 HGNC:801 ATP7B gene ATP7B London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Brain channelopathy v1.46 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Wilson disease 277900;Wilson disease, 277900 20301685 False 3 67;33;0 9.4 False ENSG00000123191 ENSG00000123191 HGNC:870 ATP7B gene ATP7B Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Wilson disease, OMIM: 277900;Dystonia 29213604;20301685 False 3 75;0;25 9.4 False ENSG00000123191 ENSG00000123191 HGNC:870 ATP7B gene ATP7B NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Wilson disease OMIM:277900;Wilson disease MONDO:0010200 20301685 False 3 50;50;0 9.4 False ENSG00000123191 ENSG00000123191 HGNC:870 AUH gene AUH Expert Review Green;Expert list Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type I, OMIM:250950 20855850;17130438 False 3 100;0;0 9.4 False ENSG00000148090 ENSG00000148090 HGNC:890 AUH gene AUH Yorkshire and North East GLH;Expert Review Green;NHS GMS;South West GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia 20855850 False 3 67;33;0 9.4 False ENSG00000148090 ENSG00000148090 HGNC:890 B3GALNT2 gene B3GALNT2 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy type A11, 615181 False 3 50;50;0 9.4 False ENSG00000162885 ENSG00000162885 HGNC:28596 B4GALNT1 gene B4GALNT1 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 26, autosomal recessive, 609195 23746551;24283893 False 3 67;33;0 9.4 False ENSG00000135454 ENSG00000135454 HGNC:4117 BICD2 gene BICD2 Expert Review Green;London North GLH;Expert list;South West GLH;NHS GMS Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290 23664120;25497877;30536747;24482476 False 3 88;12;0 9.4 False ENSG00000185963 ENSG00000185963 HGNC:17208 BRF1 gene BRF1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Cerebrofaciodental syndrome False 3 50;50;0 9.4 False ENSG00000185024 ENSG00000185024 HGNC:11551 BSCL2 gene BSCL2 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Silver spastic paraplegia syndrome, OMIM:270685;Neuropathy, distal hereditary motor, type VC, OMIM:619112 14981520;17387721 False 3 33;67;0 9.4 False ENSG00000168000 ENSG00000168000 HGNC:15832 C19orf12 gene C19orf12 NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal "?Spastic paraplegia 43, autosomal recessive OMIM:615043;hereditary spastic paraplegia 43 MONDO:0014024;Neurodegeneration with brain iron accumulation 4 OMIM:614298;neurodegeneration with brain iron accumulation 4 MONDO:0013674" 21981780;29295770;31087512 False 3 50;50;0 9.4 False ENSG00000131943 ENSG00000131943 HGNC:25443 C19orf12 gene C19orf12 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000131943 ENSG00000131943 HGNC:25443 C19orf12 gene C19orf12 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Spastic paraplegia 43, autosomal recessive, OMIM:615043;Neurodegeneration with brain iron accumulation 4, OMIM: 614298 23857908;26539891;23269600;21981780;29295770;31087512 False 3 33;67;0 9.4 False ENSG00000131943 ENSG00000131943 HGNC:25443 CA8 gene CA8 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3;Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 False 3 50;50;0 9.4 False ENSG00000178538 ENSG00000178538 HGNC:1382 CACNA1A gene CACNA1A London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Brain channelopathy v1.46;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia, type 2, OMIM:108500;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500 17575281;21734179 False 3 67;33;0 9.4 False ENSG00000141837 ENSG00000141837 HGNC:1388 CACNA1A gene CACNA1A NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia, type 2, OMIM:108500;Migraine, familial hemiplegic, 1, OMIM:141500;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500 17575281;21734179 False 3 50;50;0 9.4 False ENSG00000141837 ENSG00000141837 HGNC:1388 CACNA1G gene CACNA1G London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 42, 616795;early-onset SCA42 with neurodevelopmental deficits, 618087 False 3 67;33;0 9.4 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 CACNA1G gene CACNA1G Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 42, OMIM:616795 26715324;26456284 False 3 75;25;0 9.4 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 CAMTA1 gene CAMTA1 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebellar ataxia with mental retardation, 614756;Cerebellarataxia, nonprogressive, with mental retardation, 614756 False 3 50;50;0 9.4 False ENSG00000171735 ENSG00000171735 HGNC:18806 CAPN1 gene CAPN1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia type 76, 616907 False 3 33;67;0 9.4 False ENSG00000014216 ENSG00000014216 HGNC:1476 CAPN1 gene CAPN1 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 76 autosomal recessive, 616907 27153400;29678961;28566166 False 3 67;33;0 9.4 False ENSG00000014216 ENSG00000014216 HGNC:1476 CASK gene CASK NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders 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 3 50;50;0 9.4 False ENSG00000147044 ENSG00000147044 HGNC:1497 CCNF gene CCNF Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders 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 9.4 False ENSG00000162063 ENSG00000162063 HGNC:1591 CHCHD10 gene CHCHD10 Yorkshire and North East GLH;Expert Review Green;London North GLH;NHS GMS;South West GLH Adult-onset neurological disorders 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 9.4 False ENSG00000250479 ENSG00000250479 HGNC:15559 CHCHD2 gene CHCHD2 Expert Review Green;Wessex and West Midlands GLH;Yorkshire and North East GLH;London North GLH;NHS GMS;South West GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Parkinson disease 22, autosomal dominant, OMIM:616710 25662902;26067114;26705026;26067110;35786718 False 3 80;0;20 9.4 False ENSG00000106153 ENSG00000106153 HGNC:21645 CHMP2B gene CHMP2B Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000083937 ENSG00000083937 HGNC:24537 CHMP2B gene CHMP2B NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Frontotemporal dementia and/or amyotrophic lateral sclerosis 7, OMIM:600795 False 3 50;50;0 9.4 False ENSG00000083937 ENSG00000083937 HGNC:24537 CLCN2 gene CLCN2 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with ataxia, OMIM:615651 23707145;26539602;28473625;31291907 False 3 67;33;0 9.4 False ENSG00000114859 ENSG00000114859 HGNC:2020 CLCN2 gene CLCN2 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with ataxia, OMIM:615651 23707145;26539602;28473625;31291907 False 3 75;25;0 9.4 False ENSG00000114859 ENSG00000114859 HGNC:2020 CLN6 gene CLN6 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000128973 ENSG00000128973 HGNC:2077 CLN6 gene CLN6 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Ceroid neuronal lipofuscinosis kufs type, 204300;Ceroid lipofuscinosis, neuronal, 6, 601780;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300;Ceroid neuronal lipofuscinosis 6, 601780 False 3 67;33;0 9.4 False ENSG00000128973 ENSG00000128973 HGNC:2077 COA7 gene COA7 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 OMIM:618387;spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MONDO:0020770 False 3 67;33;0 9.4 False ENSG00000162377 ENSG00000162377 HGNC:25716 COASY gene COASY Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000068120 ENSG00000068120 HGNC:29932 COASY gene COASY Expert Review Green;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 12, 618266;Neurodegeneration with brain iron accumulation 6, 615643 11980892;25778941;24360804;27021474;28489334;30089828;36495139 False 3 50;50;0 9.4 False ENSG00000068120 ENSG00000068120 HGNC:29932 COG5 gene COG5 Expert Review Green;NHS GMS;Wessex and West Midlands GLH;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation type 2i, 613612;Congenital disorder of glycosylation, type Iii 613612 28960046;19690088 False 3 50;50;0 9.4 False ENSG00000164597 ENSG00000164597 HGNC:14857 COL4A1 gene COL4A1 Expert Review Green;NHS GMS;Expert list Adult-onset neurological disorders 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 9.4 False ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A2 gene COL4A2 Expert Review Green;NHS GMS;Expert list Adult-onset neurological disorders 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 9.4 False ENSG00000134871 ENSG00000134871 HGNC:2203 COQ4 gene COQ4 Expert Review Green;NHS GMS;Literature Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 7, OMIM:616276 36047608 False 3 100;0;0 9.4 False ENSG00000167113 ENSG00000167113 HGNC:19693 COQ4 gene COQ4 NHS GMS;Expert Review Green;Literature Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 7, OMIM:616276 36047608 False 3 100;0;0 9.4 False ENSG00000167113 ENSG00000167113 HGNC:19693 COQ8A gene COQ8A NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar Ataxia Type;Primary coenzyme Q10 deficiency 4, 612016;Coenzyme Q10 deficiency, primary 4, 612016 False 3 50;50;0 9.4 False ENSG00000163050 ENSG00000163050 HGNC:16812 COX20 gene COX20 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110;Mitochondrial complex IV deficiency False 3 50;50;0 9.4 False ENSG00000203667 ENSG00000203667 HGNC:26970 CP gene CP London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Hemosiderosis, systemic, due to aceruloplasminemia, 604290;Cerebellar ataxia, 604290;Aceruloplasminemia, 604290 False 3 67;33;0 9.4 False ENSG00000047457 ENSG00000047457 HGNC:2295 CP gene CP Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia;Cerebellar ataxia, OMIM:604290;Hemosiderosis, systemic, due to aceruloplasminemia, OMIM:604290 7708681;3574673 False 3 75;25;0 9.4 False ENSG00000047457 ENSG00000047457 HGNC:2295 CP gene CP NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, OMIM:604290;Hypoceruloplasminemia, hereditary, OMIM:604290;Hemosiderosis, systemic, due to aceruloplasminemia, OMIM:604290 False 3 50;50;0 9.4 False ENSG00000047457 ENSG00000047457 HGNC:2295 CPT1C gene CPT1C Expert Review Green;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 73, autosomal dominant, OMIM:616282 25751282;30564185 False 3 33;67;0 9.4 False ENSG00000169169 ENSG00000169169 HGNC:18540 CSF1R gene CSF1R NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukoencephalopathy, diffuse hereditary, with spheroids, OMIM:221820 22197934;22197934;23787135;24336230 False 3 50;50;0 9.4 False ENSG00000182578 ENSG00000182578 HGNC:2433 CSF1R gene CSF1R Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000182578 ENSG00000182578 HGNC:2433 CSTB gene CSTB Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 False 3 67;33;0 9.4 False ENSG00000160213 ENSG00000160213 HGNC:2482 CTSA gene CTSA Expert Review Green;NHS GMS;Expert list Adult-onset neurological disorders 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 9.4 False ENSG00000064601 ENSG00000064601 HGNC:9251 CTSF gene CTSF Expert Review Green;Literature Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 13, Kufs type, OMIM:615362 23297359;25274848 False 3 100;0;0 9.4 False ENSG00000174080 ENSG00000174080 HGNC:2531 CWF19L1 gene CWF19L1 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 17, 616127;Autosomal recessive spinocerebellar ataxia type 17, 616127 False 3 50;50;0 9.4 False ENSG00000095485 ENSG00000095485 HGNC:25613 CYP27A1 gene CYP27A1 Expert Review Green;NHS GMS;South West GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, OMIM:213700 24442603;30054180;29484516 False 3 67;33;0 9.4 False ENSG00000135929 ENSG00000135929 HGNC:2605 CYP27A1 gene CYP27A1 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, 213700;progressive lower extremity spasticity,often disproportionate to any degree of weakness False 3 67;33;0 9.4 False ENSG00000135929 ENSG00000135929 HGNC:2605 CYP27A1 gene CYP27A1 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, 213700 False 3 67;33;0 9.4 False ENSG00000135929 ENSG00000135929 HGNC:2605 CYP27A1 gene CYP27A1 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000135929 ENSG00000135929 HGNC:2605 CYP2U1 gene CYP2U1 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia type 56, 615030;Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients. False 3 50;50;0 9.4 False ENSG00000155016 ENSG00000155016 HGNC:20582 CYP7B1 gene CYP7B1 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 5A, autosomal recessive, OMIM:270800 Tsaousidou et al. (2008) i False 3 75;25;0 9.4 False ENSG00000172817 ENSG00000172817 HGNC:2652 CYP7B1 gene CYP7B1 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 5A, autosomal recessive, 270800 18252231;19187859;29126212 False 3 67;33;0 9.4 False ENSG00000172817 ENSG00000172817 HGNC:2652 DARS gene DARS Yorkshire and North East GLH;South West GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal leg spasticity;Brain stem and spinal cord Hypomyelination;Hypomyelination with brainstem and spinal cord involvement and leg spasticity, 615281 23643384;25527264 False 3 50;50;0 9.4 False ENSG00000115866 ENSG00000115866 HGNC:2678 DARS2 gene DARS2 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105 19592391 False 3 75;25;0 9.4 False ENSG00000117593 ENSG00000117593 HGNC:25538 DARS2 gene DARS2 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105 False 3 67;33;0 9.4 False ENSG00000117593 ENSG00000117593 HGNC:25538 DCAF17 gene DCAF17 NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Woodhouse-Sakati syndrome, OMIM:241080 False 3 50;50;0 9.4 False ENSG00000115827 ENSG00000115827 HGNC:25784 DCTN1 gene DCTN1 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000204843 ENSG00000204843 HGNC:2711 DCTN1 gene DCTN1 NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Perry syndrome, OMIM:168605;Neuronopathy, distal hereditary motor, type VIIB, OMIM:607641 20945553 (Gene Reviews);24343258;20437543;19136952;27132499;27346608 False 3 50;50;0 9.4 False ENSG00000204843 ENSG00000204843 HGNC:2711 DDHD1 gene DDHD1 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 28, autosomal recessive, 609340 23176821;24989667;26944165 False 3 67;33;0 9.4 False ENSG00000100523 ENSG00000100523 HGNC:19714 DDHD2 gene DDHD2 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 54;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. False 3 50;50;0 9.4 False ENSG00000085788 ENSG00000085788 HGNC:29106 DDHD2 gene DDHD2 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 54, autosomal recessive, 615033 23176823;23486545;25417924 False 3 67;33;0 9.4 False ENSG00000085788 ENSG00000085788 HGNC:29106 DNAJB2 gene DNAJB2 Expert Review Green;NHS GMS;Expert list Adult-onset neurological disorders 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 9.4 False ENSG00000135924 ENSG00000135924 HGNC:5228 DNAJC19 gene DNAJC19 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type V 610198;dilated cardiomyopathy with ataxia (DCMA) syndrome;3-methylglutaconic aciduria type V, 610198 27604308;16055927;27426421;22797137;27928778 False 3 50;50;0 9.4 False ENSG00000205981 ENSG00000205981 HGNC:30528 DNAJC5 gene DNAJC5 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ceroid lipofuscinosis, neuronal, 4, Parry type, OMIM:162350 21820099;27604308;26610600;22073189 False 3 75;25;0 9.4 False ENSG00000101152 ENSG00000101152 HGNC:16235 DNAJC5 gene DNAJC5 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ceroid neuronal lipofuscinosis 4, Parry type, 162350;Ceroid lipofuscinosis, neuronal, 4, Parry type 162350 27604308;21820099 False 3 33;67;0 9.4 False ENSG00000101152 ENSG00000101152 HGNC:16235 DNAJC6 gene DNAJC6 NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 50;50;0 9.4 False ENSG00000116675 ENSG00000116675 HGNC:15469 DNAJC6 gene DNAJC6 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000116675 ENSG00000116675 HGNC:15469 DNAJC7 gene DNAJC7 Expert Review Green;NHS GMS;Literature Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted amyotrophic lateral sclerosis 31768050;35039179;34233860;32897108;37870677;35456894 False 3 67;33;0 9.4 False ENSG00000168259 ENSG00000168259 HGNC:12392 DNMT1 gene DNMT1 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,;Cerebellar ataxia, deafness and narcolepsy, 604121;Hereditary sensory neuropathy type IE, 614116 31984424 False 3 67;33;0 9.4 False ENSG00000130816 ENSG00000130816 HGNC:2976 DNMT1 gene DNMT1 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000130816 ENSG00000130816 HGNC:2976 EIF2B1 gene EIF2B1 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, OMIM:603896 11835386;11704758 False 3 75;25;0 9.4 False ENSG00000111361 ENSG00000111361 HGNC:3257 EIF2B1 gene EIF2B1 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896;Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease False 3 67;33;0 9.4 False ENSG00000111361 ENSG00000111361 HGNC:3257 EIF2B2 gene EIF2B2 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, OMIM:603896 11835386;11704758 False 3 75;25;0 9.4 False ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2B2 gene EIF2B2 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896;Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease False 3 67;33;0 9.4 False ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2B3 gene EIF2B3 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, OMIM:603896 11835386;11704758 False 3 75;25;0 9.4 False ENSG00000070785 ENSG00000070785 HGNC:3259 EIF2B3 gene EIF2B3 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896;Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease False 3 67;33;0 9.4 False ENSG00000070785 ENSG00000070785 HGNC:3259 EIF2B4 gene EIF2B4 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, OMIM:603896 11835386;11704758 False 3 75;25;0 9.4 False ENSG00000115211 ENSG00000115211 HGNC:3260 EIF2B4 gene EIF2B4 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896;Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease False 3 67;33;0 9.4 False ENSG00000115211 ENSG00000115211 HGNC:3260 EIF2B5 gene EIF2B5 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, OMIM:603896 11835386;11704758 False 3 75;0;25 9.4 False ENSG00000145191 ENSG00000145191 HGNC:3261 EIF2B5 gene EIF2B5 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter, 603896;Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease False 3 67;33;0 9.4 False ENSG00000145191 ENSG00000145191 HGNC:3261 ELOVL4 gene ELOVL4 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 34, OMIM:133190 5048218;26010696;24566826 False 3 75;25;0 9.4 False ENSG00000118402 ENSG00000118402 HGNC:14415 ELOVL4 gene ELOVL4 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 34, 133190;Spinocerebellar ataxia 34 133190 24566826;26010696 False 3 67;33;0 9.4 False ENSG00000118402 ENSG00000118402 HGNC:14415 EPM2A gene EPM2A London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myoclonic epilepsy of Lafora 1, OMIM:254780 27604308;14722920;10932264 False 3 33;33;33 9.4 False ENSG00000112425 ENSG00000112425 HGNC:3413 EPM2A gene EPM2A Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myoclonic epilepsy of Lafora 1, OMIM:254780 27604308;10932264;14722920 False 3 75;25;0 9.4 False ENSG00000112425 ENSG00000112425 HGNC:3413 ERBB4 gene ERBB4 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult-onset neurological disorders 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 9.4 False ENSG00000178568 ENSG00000178568 HGNC:3432 ERCC4 gene ERCC4 Expert Review Green;Expert list Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Xeroderma pigmentosum, group F OMIM:278760;xeroderma pigmentosum group F MONDO:0010215 29403087;28431612;29892709 False 3 100;0;0 9.4 False ENSG00000175595 ENSG00000175595 HGNC:3436 ERLIN2 gene ERLIN2 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia, autosomal dominant;neurodegeneration.;Spastic paraplegia 18, autosomal recessive, 611225;hereditary spastic paraplegia 21330303;21796390;29691679;29528531 False 3 67;33;0 9.4 False ENSG00000147475 ENSG00000147475 HGNC:1356 EXOSC3 gene EXOSC3 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1B, OMIM:614678 False 3 50;50;0 9.4 False ENSG00000107371 ENSG00000107371 HGNC:17944 EXOSC9 gene EXOSC9 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 1D, 618065 False 3 50;50;0 9.4 False ENSG00000123737 ENSG00000123737 HGNC:9137 FA2H gene FA2H Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 35, autosomal recessive, OMIM:612319;hereditary spastic paraplegia 35, MONDO:0012866 19068277;20853438 False 3 67;33;0 9.4 False ENSG00000103089 ENSG00000103089 HGNC:21197 FAT2 gene FAT2 Expert Review Green;NHS GMS;Literature Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 45, OMIM:617769 29053796;33884300;36339299 False 3 100;0;0 9.4 False Other ENSG00000086570 ENSG00000086570 HGNC:3596 FBXO7 gene FBXO7 Expert Review Green;Expert list Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 15, autosomal recessive, OMIM:260300 19038853;18513678;26882974;34144229 False 3 100;0;0 9.4 False ENSG00000100225 ENSG00000100225 HGNC:13586 FBXO7 gene FBXO7 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia;Parkinson disease 15, autosomal recessive, OMIM:260300 18513678;19038853 False 3 75;25;0 9.4 False ENSG00000100225 ENSG00000100225 HGNC:13586 FBXO7 gene FBXO7 NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 15, autosomal recessive, OMIM:260300 False 3 50;50;0 9.4 False ENSG00000100225 ENSG00000100225 HGNC:13586 FGF14 gene FGF14 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 27;Spinocerebellar ataxia type 27, 609307 False 3 67;33;0 9.4 False ENSG00000102466 ENSG00000102466 HGNC:3671 FLVCR1 gene FLVCR1 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Retinopathy-sensory neuropathy syndrome, OMIM:609033;posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177 False 3 50;50;0 9.4 False ENSG00000162769 ENSG00000162769 HGNC:24682 FOLR1 gene FOLR1 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration due to cerebral folate transport deficiency, 613068;Neurodegeneration due to cerebral folate transport deficiency False 3 50;50;0 9.4 False ENSG00000110195 ENSG00000110195 HGNC:3791 FTL gene FTL Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodegeneration with brain iron accumulation 3, OMIM:606159 24209436 False 3 75;25;0 9.4 False ENSG00000087086 ENSG00000087086 HGNC:3999 FTL gene FTL NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration with brain iron accumulation 3, OMIM:606159 15173247;18854324;18413574;22278127;24209436 False 3 50;50;0 9.4 False ENSG00000087086 ENSG00000087086 HGNC:3999 FUS gene FUS Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000089280 ENSG00000089280 HGNC:4010 FXN gene FXN Expert Review Green;Expert Review Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia OMIM:229300;Friedreich ataxia with retained reflexes OMIM:229300;Friedreich ataxia 1 MONDO:0100340 8596916;9150176;9737785;21830088 False 3 100;0;0 9.4 False ENSG00000165060 ENSG00000165060 HGNC:3951 FXN gene FXN London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia OMIM:229300;Friedreich ataxia with retained reflexes OMIM:229300;Friedreich ataxia 1 MONDO:0100340 False 3 67;33;0 9.4 False ENSG00000165060 ENSG00000165060 HGNC:3951 GALC gene GALC Expert Review Green;Expert list Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Krabbe disease, OMIM:245200 9272171;11971051;22959700;26396125;26915362;28547031;31185936;32064984 False 3 100;0;0 9.4 False ENSG00000054983 ENSG00000054983 HGNC:4115 GBA gene GBA Expert Review Green;Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders 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 9.4 False ENSG00000177628 ENSG00000177628 HGNC:4177 GBA gene GBA NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal {Parkinson disease, late-onset, susceptibility to}, OMIM:168600 27648471;27717005;27632223;29400127;27779773 False 3 25;75;0 9.4 False ENSG00000177628 ENSG00000177628 HGNC:4177 GBA2 gene GBA2 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 46, 614409;Spastic paraplegia 46, autosomal recessive, 614409 23332916 False 3 67;33;0 9.4 False ENSG00000070610 ENSG00000070610 HGNC:18986 GBA2 gene GBA2 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 46, autosomal recessive, 614409 23332916;24337409;24252062 False 3 67;33;0 9.4 False ENSG00000070610 ENSG00000070610 HGNC:18986 GBE1 gene GBE1 Expert Review Green;NHS GMS;Expert list Adult-onset neurological disorders 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 9.4 False ENSG00000114480 ENSG00000114480 HGNC:4180 GBE1 gene GBE1 Expert Review Green;Expert list Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Polyglucosan body disease, adult form, OMIM:263570 10762170;23034915;26194201;33412965;33517539 False 3 100;0;0 9.4 False ENSG00000114480 ENSG00000114480 HGNC:4180 GCH1 gene GCH1 NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, B, OMIM:233910;Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, OMIM:128230 http://www.ncbi.nlm.nih.gov/books/NBK1155/ False 3 50;50;0 9.4 False ENSG00000131979 ENSG00000131979 HGNC:4193 GCH1 gene GCH1 Yorkshire and North East GLH;South West GLH;North West GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dystonia;progressive spastic paraplegia;Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230;Spastic paraplegia 24509643;21935284 False 3 60;40;0 9.4 False ENSG00000131979 ENSG00000131979 HGNC:4193 GCH1 gene GCH1 Expert Review Green;Wessex and West Midlands GLH;Yorkshire and North East GLH;London North GLH;NHS GMS;South West GLH Adult-onset neurological disorders 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 9.4 False ENSG00000131979 ENSG00000131979 HGNC:4193 GDAP2 gene GDAP2 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 27, OMIM:618369;spinocerebellar ataxia, autosomal recessive 27, MONDO:0032706 30084953;32437512;32428220;37070050;38587696 False 3 60;20;20 9.4 False ENSG00000196505 ENSG00000196505 HGNC:18010 GFAP gene GFAP Expert Review Green;London North GLH;NHS GMS;South West GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alexander disease, OMIM:203450 14557587;15732098 False 3 0;33;67 9.4 False ENSG00000131095 ENSG00000131095 HGNC:4235 GFAP gene GFAP Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal Dominant Ataxia;Alexander disease, OMIM:203450 26023202;29095329 False 3 75;25;0 9.4 False ENSG00000131095 ENSG00000131095 HGNC:4235 GFAP gene GFAP London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal Dominant Ataxia;Alexander disease;Alexander disease, 203450 False 3 67;33;0 9.4 False ENSG00000131095 ENSG00000131095 HGNC:4235 GJA1 gene GJA1 Expert Review Green;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Oculodentodigital dysplasia, OMIM:164200;Spastic paraplegia 18660473;22214631;29927410;31023660;33190326;33612672 False 3 100;0;0 9.4 False ENSG00000152661 ENSG00000152661 HGNC:4274 GJC2 gene GJC2 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 2;Spastic paraplegia 44, 613206;Hypomyelinating leukodystrophy 2, 608804;Autosomal Recessive Ataxia False 3 67;33;0 9.4 False ENSG00000198835 ENSG00000198835 HGNC:17494 GLA gene GLA Expert Review Green;NHS GMS;Expert list Adult-onset neurological disorders 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 9.4 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLRA1 gene GLRA1 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Brain channelopathy v1.46 Adult-onset neurological disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 1, 149400;Hyperekplexia, hereditary 1, 149400 20301437 False 3 50;50;0 9.4 False ENSG00000145888 ENSG00000145888 HGNC:4326 GLRB gene GLRB NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Brain channelopathy v1.46 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 2 OMIM:614619;hyperekplexia 2 MONDO:0013828 23238346;11929858;21391991;33323420 False 3 50;50;0 9.4 False ENSG00000109738 ENSG00000109738 HGNC:4329 GNAL gene GNAL Expert Review Green;London North GLH;NHS GMS;South West GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 25, OMIM:615073 23449625;26810727;23222958;25847575;26725140;27123488;24408567;26365774;25382112;27093447;24535567;23759320;27222887;http://www.ncbi.nlm.nih.gov/books/NBK1155/;24151159;26506956;24729450 False 3 67;33;0 9.4 False ENSG00000141404 ENSG00000141404 HGNC:4388 GOSR2 gene GOSR2 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 6, 614018;Progressive myoclonic epilepsy 6, 614018 24285620;20301317;21549339 False 3 50;50;0 9.4 False ENSG00000108433 ENSG00000108433 HGNC:4431 GPAA1 gene GPAA1 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 15, 617810 29100095;24896178 False 3 50;50;0 9.4 False ENSG00000197858 ENSG00000197858 HGNC:4446 GRID2 gene GRID2 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Progressive cerebellar ataxia, HP:0002073;Spinocerebellar ataxia, autosomal recessive 18, OMIM:616204;autosomal recessive spinocerebellar ataxia 18, MONDO:0014530 9285588;21460832;25841024;35882834;37944084 False 3 67;33;0 9.4 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000152208 ENSG00000152208 HGNC:4576 GRM1 gene GRM1 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia 44, OMIM:617691;Spinocerebellar ataxia, autosomal recessive 13, OMIM:614831 22901947;26308914;31319223;36140834;28886343 False 3 75;25;0 9.4 False ENSG00000152822 ENSG00000152822 HGNC:4593 GRN gene GRN Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000030582 ENSG00000030582 HGNC:4601 GRN gene GRN Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal "Ceroid lipofuscinosis, neuronal, 11 OMIM:614706;neuronal ceroid lipofuscinosis 11 MONDO:0013866" 22608501;27021778;28000352;28404863;30922528;31855245 False 3 67;33;0 9.4 False ENSG00000030582 ENSG00000030582 HGNC:4601 GRN gene GRN NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Frontotemporal lobar degeneration with ubiquitin-positive inclusions, OMIM:607485 20301545;17923627 False 3 50;50;0 9.4 False ENSG00000030582 ENSG00000030582 HGNC:4601 GSN gene GSN Expert Review Green;NHS GMS;Expert list Adult-onset neurological disorders 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 9.4 False ENSG00000148180 ENSG00000148180 HGNC:4620 GTPBP2 gene GTPBP2 Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Jaberi-Elahi syndrome, OMIM:617988 False 3 50;50;0 9.4 False ENSG00000172432 ENSG00000172432 HGNC:4670 HEXA gene HEXA Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, several forms, OMIM:272800;Tay-Sachs disease, OMIM:272800 28739864;27033294 False 3 75;25;0 9.4 False ENSG00000213614 ENSG00000213614 HGNC:4878 HEXA gene HEXA London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Tay-Sachs disease, 272800;GM2-gangliosidosis, several forms, 272800 False 3 67;33;0 9.4 False ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 False 3 67;33;0 9.4 False ENSG00000049860 ENSG00000049860 HGNC:4879 HEXB gene HEXB Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 20798201;24263030 False 3 75;25;0 9.4 False ENSG00000049860 ENSG00000049860 HGNC:4879 HNRNPA1 gene HNRNPA1 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000135486 ENSG00000135486 HGNC:5031 HPCA gene HPCA NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia 2, torsion, autosomal recessive, OMIM:224500 30145809;25799108 False 3 50;50;0 9.4 False ENSG00000121905 ENSG00000121905 HGNC:5144 HTRA1 gene HTRA1 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders 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 9.4 False ENSG00000166033 ENSG00000166033 HGNC:9476 IRF2BPL gene IRF2BPL Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures OMIM:618088;neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures MONDO:0060759 30057031;28135719;25363768;30166628 False 3 67;33;0 9.4 False ENSG00000119669 ENSG00000119669 HGNC:14282 ITM2B gene ITM2B Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000136156 ENSG00000136156 HGNC:6174 ITPR1 gene ITPR1 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 15, 606658;Gillespie syndrome, 206700;Spinocerebellar ataxia 15;Spinocerebellar ataxia 29;Spinocerebellar ataxia 29, 117360 False 3 67;33;0 9.4 False Other - please provide details in the comments ENSG00000150995 ENSG00000150995 HGNC:6180 KCNA1 gene KCNA1 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Brain channelopathy v1.46;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown myokymia with periodic ataxia;Episodic ataxia/myokymia syndrome;EPISODIC ATAXIA, TYPE 1;Episodic ataxia/myokymia syndrome, 160120 17575281 False 3 50;50;0 9.4 False ENSG00000111262 ENSG00000111262 HGNC:6218 KCNA2 gene KCNA2 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary spastic paraplegia and ataxia 5129488;27543892;28032718 False 3 67;33;0 9.4 False ENSG00000177301 ENSG00000177301 HGNC:6220 KCNA2 gene KCNA2 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Early infantile encephalopathy 32, 616366 False 3 50;50;0 9.4 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000177301 ENSG00000177301 HGNC:6220 KCNC3 gene KCNC3 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 13, OMIM:605259 16501573 False 3 75;25;0 9.4 False ENSG00000131398 ENSG00000131398 HGNC:6235 KCNC3 gene KCNC3 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 13, 605259;Spinocerebellar ataxia 13 False 3 67;33;0 9.4 False ENSG00000131398 ENSG00000131398 HGNC:6235 KCND3 gene KCND3 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellarataxia19, OMIM:607346 False 3 75;25;0 9.4 False ENSG00000171385 ENSG00000171385 HGNC:6239 KCND3 gene KCND3 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 19, 607346;Spinocerebellarataxia19, 607346 False 3 67;33;0 9.4 False ENSG00000171385 ENSG00000171385 HGNC:6239 KCNJ10 gene KCNJ10 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal SESAME syndrome, 612780;Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome False 3 50;50;0 9.4 False ENSG00000177807 ENSG00000177807 HGNC:6256 KCNQ2 gene KCNQ2 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Brain channelopathy v1.46 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Early infantile encephalopathy 7, 613720;Myokymia, 121200 False 3 50;50;0 9.4 False ENSG00000075043 ENSG00000075043 HGNC:6296 KIAA1161 gene KIAA1161 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317 30656188;29910000 False 3 100;0;0 9.4 False ENSG00000164976 ENSG00000164976 HGNC:19918 KIAA1161 gene KIAA1161 Expert Review Green;Expert Review Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Basal ganglia calcification, idiopathic, 7, autosomal recessive, OMIM:618317 29910000;30589467;30656188;30649222;31009047 False 3 100;0;0 9.4 False ENSG00000164976 ENSG00000164976 HGNC:19918 KIF1A gene KIF1A Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders 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 21487076;22258533;28332297;25265257;25585697;26125038;26410750;28970574;31805580;31813911;32737135;32746806;34121983 False 3 67;33;0 9.4 False ENSG00000130294 ENSG00000130294 HGNC:888 KIF1C gene KIF1C NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 2, autosomal recessive, OMIM:611302 24319291;24482476;24808017;29544888;31413903 False 3 50;50;0 9.4 False ENSG00000129250 ENSG00000129250 HGNC:6317 KIF1C gene KIF1C Yorkshire and North East GLH;South West GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 2, autosomal recessive, 611302;Spastic ataxia 2, autosomal recessive 24319291;24482476;24808017;29544888;31413903 False 3 50;33;17 9.4 False ENSG00000129250 ENSG00000129250 HGNC:6317 KIF5A gene KIF5A Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 10, autosomal dominant, OMIM:604187 29954873;29566793 False 3 75;25;0 9.4 False ENSG00000155980 ENSG00000155980 HGNC:6323 KIF5A gene KIF5A Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 10, autosomal dominant or pseudoautosomal, NOT imprinted, 604187 12355402;16476820 False 3 67;33;0 9.4 False ENSG00000155980 ENSG00000155980 HGNC:6323 KMT2B gene KMT2B NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 28, childhood-onset, OMIM:617284 27992417 False 3 50;50;0 9.4 False ENSG00000272333 ENSG00000272333 HGNC:15840 LAMB1 gene LAMB1 Expert Review Green;NHS GMS;Expert list Adult-onset neurological disorders 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 9.4 False ENSG00000091136 ENSG00000091136 HGNC:6486 LRRK2 gene LRRK2 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 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 LRRK2 gene LRRK2 NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown {Parkinson disease 8}, OMIM:607060 28395803;28395805;27090875;25391693;28395802;28395804 False 3 50;50;0 9.4 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 NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Chediak-Higashi syndrome, OMIM:214500 11857544;9215680;8896560;9215679;23436631 False 3 50;50;0 9.4 False ENSG00000143669 ENSG00000143669 HGNC:1968 LYST gene LYST Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000143669 ENSG00000143669 HGNC:1968 MAPT gene MAPT NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Supranuclear palsy, progressive, OMIM:601104;Supranuclear palsy, progressive atypical, OMIM:260540;{Parkinson disease, susceptibility to}, OMIM:168600;Dementia, frontotemporal, with or without parkinsonism, OMIM:600274;Pick disease, OMIM:172700 28334843;20301678 False 3 50;50;0 9.4 False ENSG00000186868 ENSG00000186868 HGNC:6893 MAPT gene MAPT Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000186868 ENSG00000186868 HGNC:6893 MARS2 gene MARS2 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 3, autosomal recessive;Autosomal recessive spastic ataxia 3, 611390 22448145 False 3 33;67;0 9.4 False ENSG00000247626 ENSG00000247626 HGNC:25133 MFN2 gene MFN2 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260 False 3 50;25;25 9.4 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000116688 ENSG00000116688 HGNC:16877 MFSD8 gene MFSD8 Expert Review Green;London North GLH;NHS GMS Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 7 OMIM:610951;neuronal ceroid lipofuscinosis 7 MONDO:0012588 False 3 100;0;0 9.4 False ENSG00000164073 ENSG00000164073 HGNC:28486 MMACHC gene MMACHC NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia and hypogonadism;Methylmalonic aciduria and homocystinuria cblC type, 277400;Methylmalonic aciduria and homocystinuria, cblC type, 277400 26283149 False 3 50;50;0 9.4 False ENSG00000132763 ENSG00000132763 HGNC:24525 MRE11 gene MRE11 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia-like disorder 1, 604391;Ataxia-Telangiectasia-Like Disorder False 3 33;67;0 9.4 False ENSG00000020922 ENSG00000020922 HGNC:7230 MSTO1 gene MSTO1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Myopathy, mitochondrial, and ataxia OMIM:617675;mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome MONDO:0044714 29339779;28544275;31604776;31130378;28554942;37431817 False 3 67;33;0 9.4 False ENSG00000125459 ENSG00000125459 HGNC:29678 MT-ATP6 gene MT-ATP6 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology MITOCHONDRIAL Neuropathy, ataxia and retinitis pigmentosa, NARP, 551500;Neuropathy, Ataxia, and Retinitis Pigmentosa False 3 50;50;0 9.4 False ENSG00000198899 ENSG00000198899 HGNC:7414 MTTP gene MTTP NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Abetalipoproteinemia, 200100;Abetalipoproteinemia False 3 50;50;0 9.4 False ENSG00000138823 ENSG00000138823 HGNC:7467 NAA60 gene NAA60 Expert Review Green;NHS GMS;Literature Adult-onset neurological disorders 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 9.4 False ENSG00000122390 ENSG00000122390 HGNC:25875 NAA60 gene NAA60 Expert Review Green;NHS GMS;Literature Adult-onset neurological disorders 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 9.4 False ENSG00000122390 ENSG00000122390 HGNC:25875 NEK1 gene NEK1 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult-onset neurological disorders 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 9.4 False ENSG00000137601 ENSG00000137601 HGNC:7744 NEU1 gene NEU1 Expert Review Green;NHS GMS Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Sialidosis, type I, OMIM:256550;Sialidosis, type II, OMIM:256550;Ataxia;Myoclonus 10944856;11063730;32752208;31371146;30023283 False 3 100;0;0 9.4 False ENSG00000204386 ENSG00000204386 HGNC:7758 NHLRC1 gene NHLRC1 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Progressive myoclonic epilepsy 2B, Lafora, 254780;Epilepsy, progressive myoclonic 2B (Lafora) 254780 15781812;12958597 False 3 33;67;0 9.4 False ENSG00000187566 ENSG00000187566 HGNC:21576 NHLRC1 gene NHLRC1 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 2B (Lafora), OMIM:254780 12958597;15781812 False 3 75;25;0 9.4 False ENSG00000187566 ENSG00000187566 HGNC:21576 NIPA1 gene NIPA1 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spasticparaplegia 6,autosomal dominant, pseudoautosomal, NOT imprinted, 600363 15711826;14508710;15643603 False 3 67;33;0 9.4 False ENSG00000170113 ENSG00000170113 HGNC:17043 NKX2-1 gene NKX2-1 Expert Review Green;NHS GMS;South West GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Choreoathetosis, hypothyroidism, and neonatal respiratory distress, OMIM:610978;Chorea, hereditary benign, OMIM:118700 24714694;24555207 False 3 50;50;0 9.4 False ENSG00000136352 ENSG00000136352 HGNC:11825 NKX2-1 gene NKX2-1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH;Brain channelopathy v1.46 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978;Chorea, hereditary benign 118700;Hereditary bening chorea, 118700;Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978 24555207 False 3 50;50;0 9.4 False ENSG00000136352 ENSG00000136352 HGNC:11825 NKX6-2 gene NKX6-2 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Autosomal recessive spastic ataxia 8 with hypomyelinating leukodystrophy, 617560;Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 15601927;28575651 False 3 50;50;0 9.4 False ENSG00000148826 ENSG00000148826 HGNC:19321 NOTCH3 gene NOTCH3 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1, OMIM:125310 31960911 False 3 75;25;0 9.4 False ENSG00000074181 ENSG00000074181 HGNC:7883 NPC1 gene NPC1 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease type C1, 257220;Niemann-Pick disease types C1 and D (#257220) False 3 67;33;0 9.4 False ENSG00000141458 ENSG00000141458 HGNC:7897 NPC1 gene NPC1 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease, type C1, OMIM:257220;Niemann-Pick disease, type D, OMIM:257220 False 3 75;25;0 9.4 False ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia;Niemann-Pick disease, type C2, OMIM:607625 False 3 75;25;0 9.4 False ENSG00000119655 ENSG00000119655 HGNC:14537 NPC2 gene NPC2 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease type C2 (#607625);Niemann-Pick disease type C2, 607625 False 3 67;33;0 9.4 False ENSG00000119655 ENSG00000119655 HGNC:14537 NPTX1 gene NPTX1 Expert Review Green;NHS GMS;Literature Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 50, OMIM:620158 34788392;35285082;35288776;35560436 False 3 100;0;0 9.4 False Other ENSG00000171246 ENSG00000171246 HGNC:7952 OPA1 gene OPA1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Optic atrophy plus syndrome, OMIM:125250;Behr syndrome, OMIM:210000 False 3 50;50;0 9.4 False Other ENSG00000198836 ENSG00000198836 HGNC:8140 OPA3 gene OPA3 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type III, 258501;Costeff syndrome, Optic atrophy 3 with cataract, 165300, AD False 3 67;33;0 9.4 False ENSG00000125741 ENSG00000125741 HGNC:8142 OPA3 gene OPA3 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Optic atrophy 3 with cataract, 165300;3-methylglutaconic aciduria, type III, 258501;3-methylglutaconic aciduria type III, 258501;Costeff syndrome 25201222;11668429;20301646;24944951;25657044 False 3 33;33;33 9.4 False ENSG00000125741 ENSG00000125741 HGNC:8142 OPHN1 gene OPHN1 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders 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;X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance, 300486 False 3 50;50;0 9.4 False ENSG00000079482 ENSG00000079482 HGNC:8148 OPTN gene OPTN Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000123240 ENSG00000123240 HGNC:17142 PACS2 gene PACS2 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Early infantile epileptic encephalopathy 66, 618067 False 3 50;50;0 9.4 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000179364 ENSG00000179364 HGNC:23794 PANK2 gene PANK2 NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with brain iron accumulation 1, OMIM:234200 False 3 50;50;0 9.4 False ENSG00000125779 ENSG00000125779 HGNC:15894 PANK2 gene PANK2 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia;Neurodegeneration with brain iron accumulation 1, OMIM:234200 15911822;11479594 False 3 75;25;0 9.4 False ENSG00000125779 ENSG00000125779 HGNC:15894 PARK7 gene PARK7 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 7, autosomal recessive early-onset, OMIM:606324 11462174;12446870 False 3 75;25;0 9.4 False ENSG00000116288 ENSG00000116288 HGNC:16369 PARK7 gene PARK7 NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 7, autosomal recessive early-onset, OMIM:606324 False 3 50;50;0 9.4 False ENSG00000116288 ENSG00000116288 HGNC:16369 PCYT2 gene PCYT2 Expert Review Green;Literature Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 82, autosomal recessive, 618770 31637422 False 3 0;0;0 9.4 False ENSG00000185813 ENSG00000185813 HGNC:8756 PDGFB gene PDGFB NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 5, OMIM:615483 23913003;26129893 False 3 50;50;0 9.4 False ENSG00000100311 ENSG00000100311 HGNC:8800 PDGFB gene PDGFB Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Basal ganglia calcification, idiopathic, 5, OMIM:615483 29955172;23913003 False 3 67;33;0 9.4 False ENSG00000100311 ENSG00000100311 HGNC:8800 PDGFRB gene PDGFRB Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 4, OMIM:615007 27984190;23255827;26129893;25292412 False 3 0;100;0 9.4 False ENSG00000113721 ENSG00000113721 HGNC:8804 PDGFRB gene PDGFRB Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia;Basal ganglia calcification, idiopathic, 4, OMIM:615007 24065723;24796542 False 3 67;33;0 9.4 False ENSG00000113721 ENSG00000113721 HGNC:8804 PEX16 gene PEX16 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Zellweger syndrome (614876);Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis;Peroxisome biogenesis disorder 8B, 614877;Peroxisome biogenesis disorder 8A, 614876 False 3 50;50;0 9.4 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX6 gene PEX6 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Peroxisome biogenesis disorder 4A (Zellweger), OMIM:614862;Peroxisome biogenesis disorder 4B, OMIM:614863 26669662;29220678 False 3 50;50;0 9.4 False Other ENSG00000124587 ENSG00000124587 HGNC:8859 PFN1 gene PFN1 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 18, OMIM:614808 24920614;22801503 False 3 75;25;0 9.4 False ENSG00000108518 ENSG00000108518 HGNC:8881 PINK1 gene PINK1 NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 6, early onset, OMIM:605909 16009891;15955954;17030667;20356854 False 3 50;50;0 9.4 False ENSG00000158828 ENSG00000158828 HGNC:14581 PINK1 gene PINK1 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 6, early onset, OMIM:605909;Dystonia 15087508;15349870 False 3 75;25;0 9.4 False ENSG00000158828 ENSG00000158828 HGNC:14581 PLA2G6 gene PLA2G6 NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 14, autosomal recessive, OMIM:612953;Neurodegeneration with brain iron accumulation 2B, OMIM:610217 18570303;16783378;18799783;20938027;21700586 False 3 50;50;0 9.4 False ENSG00000184381 ENSG00000184381 HGNC:9039 PLA2G6 gene PLA2G6 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 14 (#612953);Autosomal recessive Parkinson disease 14, 612953;Infantile neuroaxonal dystrophy 1 (#256600);Neurodegeneration with brain iron accumulation 2B, 610217;Neurodegeneration with brain iron accumulation 2B (#610217);Infantile neuroaxonal dystrophy 1, 256600 False 3 67;33;0 9.4 False ENSG00000184381 ENSG00000184381 HGNC:9039 PLA2G6 gene PLA2G6 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000184381 ENSG00000184381 HGNC:9039 PLP1 gene PLP1 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Spastic paraplegia 2, X-linked recessive, 312920 8012387;11093273;7488049 False 3 67;33;0 9.4 False ENSG00000123560 ENSG00000123560 HGNC:9086 PMPCA gene PMPCA NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Autosomal recessive spinocerebellar ataxia 2, 213200;Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families. 25808372 False 3 50;50;0 9.4 False ENSG00000165688 ENSG00000165688 HGNC:18667 PMPCB gene PMPCB Expert Review Green;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954;multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 False 3 50;50;0 9.4 False ENSG00000105819 ENSG00000105819 HGNC:9119 PNKD gene PNKD Expert Review Green;NHS GMS;Wessex and West Midlands GLH;Brain channelopathy v1.46 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paroxysmal nonkinesigenic dyskinesia 1, 118800;PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 15262732;15496428;15824259 False 3 0;100;0 9.4 False ENSG00000127838 ENSG00000127838 HGNC:9153 PNKD gene PNKD NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paroxysmal nonkinesigenic dyskinesia 1, OMIM:118800 http://www.ncbi.nlm.nih.gov/books/NBK1155/;15262732;15496428;15824259 False 3 50;50;0 9.4 False ENSG00000127838 ENSG00000127838 HGNC:9153 PNKP gene PNKP NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Microcephaly, seizures and developmental delay, 613402;Ataxia-oculomotor apraxia 4, 616267;Ataxia with oculomotor apraxia 4 (#616267) False 3 50;50;0 9.4 False ENSG00000039650 ENSG00000039650 HGNC:9154 PNPLA6 gene PNPLA6 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 39, autosomal recessive, 612020 18313024;24355708;23733235 False 3 67;33;0 9.4 False ENSG00000032444 ENSG00000032444 HGNC:16268 PNPLA6 gene PNPLA6 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Sapstic paraplegia 39, 612020;Oliver-McFarlane syndrome, 275400;Boucher-Neuhauser syndrome, 215470;Oliver-McFarlane syndrome (#603197);Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470);Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients False 3 67;33;0 9.4 False ENSG00000032444 ENSG00000032444 HGNC:16268 POLG gene POLG Expert Review Green;Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 39498811 False 3 50;0;50 9.4 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLG gene POLG London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE);Mitochondrial recessive ataxia syndrome, 607459;autosomal recessive progressive external opthalmoplegia, 258450;autosomal dominant progressive external ophthalmoplegia, 157640;Mitochondrial DNA depletion types 4A, 203700 and 4B, 613662 False 3 67;33;0 9.4 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLR3A gene POLR3A Expert Review Green;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, 607694;Autosomal Recessive Ataxia 25655951;21855841;28459997 False 3 33;33;33 9.4 False ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3A gene POLR3A NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism;Hypomyelinating leukodystrophy 7 with or without oligodontia and/or hypogonadotrophic hypogonadism, 607694;Autosomal Recessive Ataxia 21855841;25655951 False 3 50;50;0 9.4 False ENSG00000148606 ENSG00000148606 HGNC:30074 PPP2R5D gene PPP2R5D Expert Review Green;Literature Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mental retardation, autosomal dominant 35 OMIM:616355;intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome MONDO:0014602 33338668;32743835;30615140 False 3 100;0;0 9.4 False ENSG00000112640 ENSG00000112640 HGNC:9312 PRDX3 gene PRDX3 Expert Review Green;NHS GMS;Literature Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 32, OMIM:619862 33889951 False 3 100;0;0 9.4 False ENSG00000165672 ENSG00000165672 HGNC:9354 PRKCG gene PRKCG London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 14;Spincocerebellar ataxia 14, 605361 False 3 67;33;0 9.4 False ENSG00000126583 ENSG00000126583 HGNC:9402 PRKN gene PRKN NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease, juvenile, type 2, OMIM:600116 22956510 False 3 50;50;0 9.4 False ENSG00000185345 ENSG00000185345 HGNC:8607 PRKN gene PRKN Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease, juvenile, type 2, OMIM:600116;Dystonia 22956510;12056932;9560156 False 3 75;25;0 9.4 False ENSG00000185345 ENSG00000185345 HGNC:8607 PRKRA gene PRKRA NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia 16, OMIM:612067 18420150;18243799;22842711;24142417;25142429;25737287;25914261;26990861 False 3 50;50;0 9.4 False ENSG00000180228 ENSG00000180228 HGNC:9438 PRNP gene PRNP Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000171867 ENSG00000171867 HGNC:9449 PRNP gene PRNP Expert Review Green;NHS GMS Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Gerstmann-Straussler disease, OMIM: 137440;Gerstmann-Straussler-Scheinker syndrome, MONDO:0007656 30240140;8250529;34746379;28195350;16227536;19228673;1699173;7902971;11709001;10581485;10953183;1363810;7902972 False 3 100;0;0 9.4 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000171867 ENSG00000171867 HGNC:9449 PRNP gene PRNP NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebral amyloid angiopathy, PRNP-related, OMIM:137440;Huntington disease-like 1, OMIM:603218;Gerstmann-Straussler disease, OMIM:137440;Creutzfeldt-Jakob disease, OMIM:123400 False 3 50;50;0 9.4 False ENSG00000171867 ENSG00000171867 HGNC:9449 PRNP gene PRNP London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal Dominant Ataxia;Multiple allelic disorders reported;Huntington disease-like 1;Gerstmann-Straussler disease;Creutzfeldt-Jakob disease;Insomnia, fatal familial False 3 67;33;0 9.4 False ENSG00000171867 ENSG00000171867 HGNC:9449 PRRT2 gene PRRT2 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Brain channelopathy v1.46;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS;SEIZURES, BENIGN FAMILIAL INFANTILE, 2;EPISODIC KINESIGENIC DYSKINESIA 1;Familial infantile convulsions with paroxysmal dyskinesia 1, 602066;dystonia and occasionally hemiplegic migraine and epilepsy;episodic kinesigenic dyskinesia;episodic kinesigenic dyskinesia, 128200 22744660;22101681;22120146;22399141 False 3 33;67;0 9.4 False ENSG00000167371 ENSG00000167371 HGNC:30500 PRRT2 gene PRRT2 NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic kinesigenic dyskinesia 1, OMIM:128200;Convulsions, familial infantile, with paroxysmal choreoathetosis, OMIM:602066 22744660;http://www.ncbi.nlm.nih.gov/books/NBK1155/;22101681;22120146;22399141 False 3 50;50;0 9.4 False ENSG00000167371 ENSG00000167371 HGNC:30500 PSAP gene PSAP Expert Review Green;NHS GMS;Literature Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Parkinson disease 24, autosomal dominant, susceptibility to}, OMIM:619491 32201884 False 3 100;0;0 9.4 False ENSG00000197746 ENSG00000197746 HGNC:9498 PSEN1 gene PSEN1 Yorkshire and North East GLH;South West GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Alzheimer disease, type 3, with spastic paraparesis, apraxia and unusual plaques;Alzheimer disease, type 3, with spastic paraparesis and apraxia;Alzheimer disease, type 3, with spastic paraparesis and unusual plaques 22517194 False 3 50;25;25 9.4 False ENSG00000080815 ENSG00000080815 HGNC:9508 PSEN1 gene PSEN1 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000080815 ENSG00000080815 HGNC:9508 PSEN2 gene PSEN2 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000143801 ENSG00000143801 HGNC:9509 PTRH2 gene PTRH2 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Infantile-onset multisystem neurologic, endocrine, and pancreatic disease, OMIM:616263;neurologic, endocrine, and pancreatic disease, multisystem, infantile-onset 1, MONDO:8000012 False 3 50;50;0 9.4 False ENSG00000141378 ENSG00000141378 HGNC:24265 PUM1 gene PUM1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 47, 617931 False 3 67;33;0 9.4 False ENSG00000134644 ENSG00000134644 HGNC:14957 RAB32 gene RAB32 Expert Review Green;NHS GMS;Literature Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Parkinson disease 26, autosomal dominant, susceptibility to}, OMIM:620923 38614108;38858457 False 3 100;0;0 9.4 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 RAB39B gene RAB39B NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Waisman syndrome, OMIM:311510 27838047;27459931;27066548;26399558;2639955;27448726;27943471;25434005;27694831 False 3 50;50;0 9.4 False ENSG00000155961 ENSG00000155961 HGNC:16499 RAB3A gene RAB3A Expert Review Green;NHS GMS;Research Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 52, OMIM:621535 36928819;40166812 False 3 100;0;0 9.4 False ENSG00000105649 ENSG00000105649 HGNC:9777 RARS2 gene RARS2 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal epilepsy;Pontocerebellar hypoplasia;Pontocerebellar hypoplasia 6, 611523 False 3 50;50;0 9.4 False ENSG00000146282 ENSG00000146282 HGNC:21406 REEP1 gene REEP1 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 31, autosomal dominant, 610250 16826527;18321925 False 3 67;33;0 9.4 False ENSG00000068615 ENSG00000068615 HGNC:25786 RNF170 gene RNF170 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal dominant sensory ataxia 1, 608984;Ataxia, sensory, 1, autosomal dominant False 3 67;33;0 9.4 False ENSG00000120925 ENSG00000120925 HGNC:25358 RNF216 gene RNF216 Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840 False 3 50;50;0 9.4 False ENSG00000011275 ENSG00000011275 HGNC:21698 RNF216 gene RNF216 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and hypogonadotropic hypogonadism, 212840;Cerebellar ataxia and hypogonadotrophic hypogonadism False 3 67;33;0 9.4 False ENSG00000011275 ENSG00000011275 HGNC:21698 RNF216 gene RNF216 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and hypogonadotropic hypogonadism, OMIM:212840 11932290;23656588 False 3 75;25;0 9.4 False ENSG00000011275 ENSG00000011275 HGNC:21698 ROBO3 gene ROBO3 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Familial horizontal gaze palsy with progressive scoliosis, 607313 False 3 50;50;0 9.4 False ENSG00000154134 ENSG00000154134 HGNC:13433 RTN2 gene RTN2 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 12, autosomal dominant, 604805 22232211;24123792;28362824 False 3 67;33;0 9.4 False ENSG00000125744 ENSG00000125744 HGNC:10468 SACS gene SACS London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Charlevoix-Saguenay spastic ataxia, 270550;Spastic ataxia, Charlevoix-Saguenay type False 3 67;33;0 9.4 False ENSG00000151835 ENSG00000151835 HGNC:10519 SACS gene SACS Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia, Charlevoix-Saguenay type, 270550 10655055;20876471 False 3 67;33;0 9.4 False ENSG00000151835 ENSG00000151835 HGNC:10519 SAMD9L gene SAMD9L Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ataxia-pancytopenia syndrome, 159550 False 3 67;33;0 9.4 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000177409 ENSG00000177409 HGNC:1349 SCN1A gene SCN1A NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Brain channelopathy v1.46 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted familial hemiplegic migraine 3;Familial febrile seziures 3A, 604403;Dravet syndrome;several epilepsy, convulsion and migraine disorders.;Generalised epilepsy with febrile seizures type 2, 604403;Familial hemiplegic migraine 3, 609634;Epileptic encephalopathy 6, 607208 16054936;19332696 False 3 50;50;0 9.4 False ENSG00000144285 ENSG00000144285 HGNC:10585 SCN8A gene SCN8A NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Brain channelopathy v1.46;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cognitive impairment with or without cerebellar ataxia, OMIM:614306;Developmental and epileptic encephalopathy 13, OMIM:614558 25725044 False 3 50;50;0 9.4 False ENSG00000196876 ENSG00000196876 HGNC:10596 SEPSECS gene SEPSECS NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2D, 613811;Pontocerebellar hypoplasia type 2D (613811) False 3 50;50;0 9.4 False ENSG00000109618 ENSG00000109618 HGNC:30605 SETX gene SETX London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, OMIM:606002 False 3 67;33;0 9.4 False ENSG00000107290 ENSG00000107290 HGNC:445 SETX gene SETX Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000107290 ENSG00000107290 HGNC:445 SGCE gene SGCE NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed) Dystonia-11, myoclonic, OMIM:159900 http://www.ncbi.nlm.nih.gov/books/NBK1155/;12325078;11528394 False 3 50;50;0 9.4 False ENSG00000127990 ENSG00000127990 HGNC:10808 SIL1 gene SIL1 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Marinesco-Sjogren syndrome, 248800 False 3 50;50;0 9.4 False ENSG00000120725 ENSG00000120725 HGNC:24624 SLC19A3 gene SLC19A3 Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), OMIM:607483 False 3 0;100;0 9.4 False ENSG00000135917 ENSG00000135917 HGNC:16266 SLC1A3 gene SLC1A3 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Brain channelopathy v1.46;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia, type 6;Episodic ataxia type 6, 612656 27829685;16116111;19139306 False 3 50;50;0 9.4 False ENSG00000079215 ENSG00000079215 HGNC:10941 SLC20A2 gene SLC20A2 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia;Basal ganglia calcification, idiopathic, 1, OMIM:158378 24065723;24135862 False 3 67;33;0 9.4 False ENSG00000168575 ENSG00000168575 HGNC:10947 SLC20A2 gene SLC20A2 NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 1, OMIM:213600 False 3 50;50;0 9.4 False ENSG00000168575 ENSG00000168575 HGNC:10947 SLC25A15 gene SLC25A15 Expert Review Green;Expert list Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, OMIM:238970 11355015;16376511;18978333;22465082;28592010;33314525 False 3 100;0;0 9.4 False ENSG00000102743 ENSG00000102743 HGNC:10985 SLC25A46 gene SLC25A46 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, MONDO:0000437;Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505 26168012;28376086;28558379;28934388 False 3 50;25;25 9.4 False ENSG00000164209 ENSG00000164209 HGNC:25198 SLC2A1 gene SLC2A1 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Brain channelopathy v1.46;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia;GLUT1 DEFICIENCY SYNDROME 1;dystonia 9;GLUT1 deficiency syndrome 2, 612126;GLUT1 deficiency syndrome 1, 606777;Dystonia 9, 601042;EPILEPSY, IDIOPATHIC GENERALIZED 18451999;19630075;18577546 False 3 50;50;0 9.4 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC2A1 gene SLC2A1 NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Dystonia 9, OMIM:601042;GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777;GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126 18451999;http://www.ncbi.nlm.nih.gov/books/NBK1155/;19630075;18577546 False 3 50;50;0 9.4 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC30A10 gene SLC30A10 NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Hypermanganesemia with dystonia 1, OMIM:613280 22341971;22341972;22926781;22934317;25778823 False 3 50;50;0 9.4 False ENSG00000196660 ENSG00000196660 HGNC:25355 SLC39A8 gene SLC39A8 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation type IIN, 616721 False 3 50;50;0 9.4 False ENSG00000138821 ENSG00000138821 HGNC:20862 SLC52A2 gene SLC52A2 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Bwon-Vialetto-Van Laere syndrome 2, 614707 False 3 50;50;0 9.4 False ENSG00000185803 ENSG00000185803 HGNC:30224 SLC9A6 gene SLC9A6 Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders 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 3 0;100;0 9.4 False ENSG00000198689 ENSG00000198689 HGNC:11079 SNCA gene SNCA Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False Other ENSG00000145335 ENSG00000145335 HGNC:11138 SNCA gene SNCA NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dementia, Lewy body, OMIM:127750;Parkinson disease 4, OMIM:605543;Parkinson disease 1, OMIM:168601 False 3 50;50;0 9.4 False Other - please provide details in the comments ENSG00000145335 ENSG00000145335 HGNC:11138 SNX14 gene SNX14 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Autosomal recessive spinocerebellar ataxia (#616354);Autosomal recessive spinocerebellar ataxia 20, 616354 False 3 67;33;0 9.4 False ENSG00000135317 ENSG00000135317 HGNC:14977 SOD1 gene SOD1 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False Other ENSG00000142168 ENSG00000142168 HGNC:11179 SPAST gene SPAST Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000021574 ENSG00000021574 HGNC:11233 SPAST gene SPAST Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 4, autosomal dominant, OMIM:182601;hereditary spastic paraplegia 4, MONDO:0008438 16240363;15248095;34935948 False 3 67;33;0 9.4 False ENSG00000021574 ENSG00000021574 HGNC:11233 SPG11 gene SPG11 NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 11, autosomal recessive, OMIM:604360;Charcot-Marie-Tooth disease, axonal, type 2X, OMIM:616668;Amyotrophic lateral sclerosis 5, juvenile, OMIM:602099 27820618;19224311;21381113 False 3 50;50;0 9.4 False ENSG00000104133 ENSG00000104133 HGNC:11226 SPG11 gene SPG11 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 11, autosomal recessive, 604360;Charcot-Marie-Tooth disease, axonal, type 2X, 616668, AR;Amyotrophic lateral sclerosis 5, juvenile, 602099, AR 17322883;17717710;18067136;19194956 False 3 67;33;0 9.4 False ENSG00000104133 ENSG00000104133 HGNC:11226 SPG11 gene SPG11 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000104133 ENSG00000104133 HGNC:11226 SPG21 gene SPG21 Expert Review Green;Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic Paraplegia, Recessive 14564668;28752238;24451228;26978163 False 3 67;17;17 9.4 False ENSG00000090487 ENSG00000090487 HGNC:20373 SPG21 gene SPG21 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Mast syndrome, 248900;Spastic Paraplegia, autosomal recessive 14564668;28752238;24451228 False 3 67;33;0 9.4 False ENSG00000090487 ENSG00000090487 HGNC:20373 SPG7 gene SPG7 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders 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;9635427;16534102;17646629;18200586;20186691;22571692;31068484;31854126;32548275;33598982;33774748;34405107;39978794 False 3 80;20;0 9.4 False ENSG00000197912 ENSG00000197912 HGNC:11237 SPG7 gene SPG7 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders 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 9635427;16534102;17646629;18200586;20186691;22571692 False 3 80;20;0 9.4 False ENSG00000197912 ENSG00000197912 HGNC:11237 SPG7 gene SPG7 Expert Review Green;Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders 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 9.4 False ENSG00000197912 ENSG00000197912 HGNC:11237 SPTAN1 gene SPTAN1 Expert Review Green;NHS GMS;Literature Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental and epileptic encephalopathy 5, OMIM:613477;Developmental delay with or without epilepsy, OMIM:620540;Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538 33790315;35150594;36331550;36408834 False 3 100;0;0 9.4 False ENSG00000197694 ENSG00000197694 HGNC:11273 SPTAN1 gene SPTAN1 NHS GMS;Expert Review Green;Literature Adult-onset neurological disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 5, OMIM:613477;Developmental delay with or without epilepsy, OMIM:620540;Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538 18065176;20493457;22656320;31515523;34526651;35150594;36331550 False 3 100;0;0 9.4 False ENSG00000197694 ENSG00000197694 HGNC:11273 SPTBN2 gene SPTBN2 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia 5, OMIM:600224;Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386 False 3 67;33;0 9.4 False ENSG00000173898 ENSG00000173898 HGNC:11276 SPTLC1 gene SPTLC1 Expert Review Green;NHS GMS Adult-onset neurological disorders 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 9.4 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;NHS GMS;Literature Adult-onset neurological disorders 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 9.4 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;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with ataxia, dystonia, and gaze palsy, 617145 False 3 50;50;0 9.4 False ENSG00000161011 ENSG00000161011 HGNC:11280 SQSTM1 gene SQSTM1 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amyotrophic lateral sclerosis 3, OMIM:616437 22084127;22972638 False 3 67;33;0 9.4 False ENSG00000161011 ENSG00000161011 HGNC:11280 SRD5A3 gene SRD5A3 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation type Iq, 612379;Congenital disorder of glycosylation, type Iq, 612379;Kahrizi syndrome, 612713 False 3 50;50;0 9.4 False ENSG00000128039 ENSG00000128039 HGNC:25812 SS18L1 gene SS18L1 Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis, MONDO:0004976 23708140;24360741;25888396;30976389 False 3 75;25;0 9.4 False ENSG00000184402 ENSG00000184402 HGNC:15592 STUB1 gene STUB1 Expert Review Green;Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders 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 9.4 False ENSG00000103266 ENSG00000103266 HGNC:11427 STUB1 gene STUB1 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders 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 75;25;0 9.4 False ENSG00000103266 ENSG00000103266 HGNC:11427 SYNE1 gene SYNE1 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743;Autosomal recessive ataxia, Beauce type, MONDO:0012549 False 3 67;33;0 9.4 False ENSG00000131018 ENSG00000131018 HGNC:17089 SYNGAP1 gene SYNGAP1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 5, OMIM:612621 False 3 50;50;0 9.4 False ENSG00000197283 ENSG00000197283 HGNC:11497 SYNJ1 gene SYNJ1 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 20, early-onset, OMIM:615530 23804577;23804563;27435091;26149920;27496670 False 3 75;25;0 9.4 False ENSG00000159082 ENSG00000159082 HGNC:11503 SYNJ1 gene SYNJ1 NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Parkinson disease 20, early-onset, OMIM:615530 27435091;27496670;26149920;23804563;23804577 False 3 50;50;0 9.4 False ENSG00000159082 ENSG00000159082 HGNC:11503 TARDBP gene TARDBP Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000120948 ENSG00000120948 HGNC:11571 TBK1 gene TBK1 Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Frontotemporal dementia and/or amyotrophic lateral sclerosis 4, OMIM:616439 False 3 50;50;0 9.4 False ENSG00000183735 ENSG00000183735 HGNC:11584 TBK1 gene TBK1 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000183735 ENSG00000183735 HGNC:11584 TDP1 gene TDP1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal ?Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1, OMIM:607250 12244316;15920477;17948061;31182267;31723605 False 3 60;20;20 9.4 False ENSG00000042088 ENSG00000042088 HGNC:18884 THAP1 gene THAP1 NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 6, torsion, OMIM:602629 http://www.ncbi.nlm.nih.gov/books/NBK1155/;21793105 False 3 50;50;0 9.4 False ENSG00000131931 ENSG00000131931 HGNC:20856 TIMM8A gene TIMM8A Expert Review Green;NHS GMS;South West GLH Adult-onset neurological disorders Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Mohr-Tranebjaerg syndrome, OMIM:304700 22736418;32820032 False 3 50;50;0 9.4 False ENSG00000126953 ENSG00000126953 HGNC:11817 TMEM240 gene TMEM240 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 21, 607454 False 3 67;33;0 9.4 False ENSG00000205090 ENSG00000205090 HGNC:25186 TMEM240 gene TMEM240 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 21, OMIM:607454 25070513;18418688 False 3 75;25;0 9.4 False ENSG00000205090 ENSG00000205090 HGNC:25186 TOE1 gene TOE1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 7, 614969 False 3 50;50;0 9.4 False ENSG00000132773 ENSG00000132773 HGNC:15954 TOR1A gene TOR1A NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia-1, torsion, OMIM:128100;Dystonic disorder, MONDO:0003441 16537570;9288096;20301665;http://www.ncbi.nlm.nih.gov/books/NBK1155/;17503336;11523564 False 3 50;50;0 9.4 False ENSG00000136827 ENSG00000136827 HGNC:3098 TPP1 gene TPP1 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Autosomal recessive spinocerebellar ataxia 7, 609270;Ceroid lipofuscinosis, neuronal, 2, 204500;Spinocerebellar ataxia, autosomal recessive 7, 609270;Neuronal ceroid lipofuscinosis, 204500 False 3 33;67;0 9.4 False ENSG00000166340 ENSG00000166340 HGNC:2073 TREM2 gene TREM2 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, OMIM:618193;Dystonia 23318515;15883308 False 3 67;33;0 9.4 False ENSG00000095970 ENSG00000095970 HGNC:17761 TREX1 gene TREX1 Expert Review Green;NHS GMS Adult-onset neurological disorders 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 9.4 False ENSG00000213689 ENSG00000213689 HGNC:12269 TSEN2 gene TSEN2 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 2B, 612389 False 3 50;50;0 9.4 False ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN54 gene TSEN54 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2A, OMIM:277470;Pontocerebellar hypoplasia type 4, OMIM:225753 False 3 50;50;0 9.4 False ENSG00000182173 ENSG00000182173 HGNC:27561 TTBK2 gene TTBK2 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 11, 604432;Spinocerebellar ataxia 11 False 3 67;33;0 9.4 False ENSG00000128881 ENSG00000128881 HGNC:19141 TTC19 gene TTC19 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 2, OMIM:615157 23532514;21278747 False 3 75;25;0 9.4 False ENSG00000011295 ENSG00000011295 HGNC:26006 TTPA gene TTPA London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia with isolated vitamin E deficiency;Ataxia with Vitamin E Deficiency;Ataxia with isolated vitamin E deficiency, 277460 False 3 67;33;0 9.4 False ENSG00000137561 ENSG00000137561 HGNC:12404 TTR gene TTR Expert Review Green;NHS GMS;Expert list Adult-onset neurological disorders 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 9.4 False ENSG00000118271 ENSG00000118271 HGNC:12405 TUBA1A gene TUBA1A Expert Review Green;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly 3, 611603 False 3 50;50;0 9.4 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000167552 ENSG00000167552 HGNC:20766 TUBA4A gene TUBA4A Expert Review Green;NHS GMS;Literature Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Amyotrophic lateral sclerosis 22 with or without frontotemporal dementia, OMIM:616208;amyotrophic lateral sclerosis type 22, MONDO:0014531 25374358;37418012;38884572 False 3 100;0;0 9.4 False ENSG00000127824 ENSG00000127824 HGNC:12407 TUBA4A gene TUBA4A Expert Review Green;NHS GMS;Yorkshire and North East GLH Adult-onset neurological disorders 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 9.4 False ENSG00000127824 ENSG00000127824 HGNC:12407 TUBB2B gene TUBB2B Expert Review Green;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031 False 3 50;50;0 9.4 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000137285 ENSG00000137285 HGNC:30829 TUBB3 gene TUBB3 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Complex cortical dysplasia with other brain abnormalities 1, 614039 False 3 50;50;0 9.4 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000258947 ENSG00000258947 HGNC:20772 TUBB4A gene TUBB4A Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 4, torsion, autosomal dominant, 128101;ataxia;Leukodystrophy, hypomyelinating, 612438 AD False 3 67;33;0 9.4 False ENSG00000104833 ENSG00000104833 HGNC:20774 TUBB4A gene TUBB4A London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 4, torsion, autosomal dominant, 128101;Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438;Leukodystrophy, hypomyelinating, 6, 612438 25497598 False 3 67;33;0 9.4 False Other - please provide details in the comments ENSG00000104833 ENSG00000104833 HGNC:20774 TUBB4A gene TUBB4A NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Dystonia 4, torsion, autosomal dominant, OMIM:128101 27809427;24526230;24850488;23582646 False 3 50;50;0 9.4 False ENSG00000104833 ENSG00000104833 HGNC:20774 TWNK gene TWNK London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 7, 271245;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286;Ataxia Neuropathy Spectrum Disorders, Dominant;Spinocerebellar Ataxia, Recessive;Progressive external ophthalmoplegia with mitochondrial DNA deletions, 609286;Perrault syndrome 5, 616138;Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 False 3 67;33;0 9.4 False ENSG00000107815 ENSG00000107815 HGNC:1160 TYROBP gene TYROBP Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1, OMIM:221770 12370476;15049507;10888890 False 3 75;25;0 9.4 False ENSG00000011600 ENSG00000011600 HGNC:12449 UBA5 gene UBA5 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Early infantile epileptic encephalopathy 44, 617132;Autosomal recessive spinocerebellar ataxia 24, 617133 False 3 50;50;0 9.4 False ENSG00000081307 ENSG00000081307 HGNC:23230 UBAP1 gene UBAP1 London North GLH;NHS GMS;Yorkshire and North East GLH;Expert Review Green;Literature Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hereditary spastic paraplegia 30929741 False 3 100;0;0 9.4 False ENSG00000165006 ENSG00000165006 HGNC:12461 UBQLN2 gene UBQLN2 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000188021 ENSG00000188021 HGNC:12509 UCHL1 gene UCHL1 Expert Review Green;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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;28007905;29735986;32656641;35986737 False 3 43;43;14 9.4 False ENSG00000154277 ENSG00000154277 HGNC:12513 UCHL1 gene UCHL1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal 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;28007905;29735986;32656641;35986737 False 3 50;33;17 9.4 False ENSG00000154277 ENSG00000154277 HGNC:12513 VAPB gene VAPB Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Amyotrophic lateral sclerosis 8, OMIM:608627 18555774;15372378 False 3 75;25;0 9.4 False ENSG00000124164 ENSG00000124164 HGNC:12649 VCP gene VCP Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000165280 ENSG00000165280 HGNC:12666 VLDLR gene VLDLR NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050;Cerebellar ataxia, mental retardation and dysequilibirum syndrome 1, 224050 False 3 50;50;0 9.4 False ENSG00000147852 ENSG00000147852 HGNC:12698 VPS13A gene VPS13A Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Choreoacanthocytosis, OMIM:200150 11381253 False 3 75;25;0 9.4 False ENSG00000197969 ENSG00000197969 HGNC:1908 VPS13A gene VPS13A NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Choreoacanthocytosis, OMIM:200150 11381253;11381254;14663054 False 3 50;50;0 9.4 False ENSG00000197969 ENSG00000197969 HGNC:1908 VPS13D gene VPS13D London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 4, OMIM:607317 False 3 67;33;0 9.4 False ENSG00000048707 ENSG00000048707 HGNC:23595 VPS16 gene VPS16 Expert Review Green;NHS GMS Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dystonia 30, OMIM:619291;Dystonia Associated with Lysosomal Abnormalities 27174565;32808683;33305852;33482438;33595841;33998058 False 3 100;0;0 9.4 False ENSG00000215305 ENSG00000215305 HGNC:14584 VPS35 gene VPS35 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000069329 ENSG00000069329 HGNC:13487 VPS35 gene VPS35 NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Parkinson disease 17, OMIM:614203 23408866;21763483;21763482;26547032;22991136;27777137;22517097;24854799;35766879 False 3 50;50;0 9.4 False ENSG00000069329 ENSG00000069329 HGNC:13487 VPS53 gene VPS53 Expert Review Green;NHS GMS;Wessex and West Midlands GLH;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 2E, 615851 24577744 False 3 50;50;0 9.4 False ENSG00000141252 ENSG00000141252 HGNC:25608 VRK1 gene VRK1 Expert Review Green;Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH Adult-onset neurological disorders 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 9.4 False ENSG00000100749 ENSG00000100749 HGNC:12718 WASHC5 gene WASHC5 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic paraplegia 8, autosomal dominant, OMIM:603563 17160902;23455931 False 3 67;33;0 9.4 False ENSG00000164961 ENSG00000164961 HGNC:28984 WDR45 gene WDR45 Wessex and West Midlands GLH;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders 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 9.4 False ENSG00000196998 ENSG00000196998 HGNC:28912 WDR45 gene WDR45 NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Neurodegeneration with brain iron accumulation 5, OMIM:300894 23435086;22892189;23176820 False 3 50;50;0 9.4 False ENSG00000196998 ENSG00000196998 HGNC:28912 WDR73 gene WDR73 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat Syndrome 1, 251300;Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature False 3 50;50;0 9.4 False ENSG00000177082 ENSG00000177082 HGNC:25928 WDR81 gene WDR81 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185;Cerebellar ataxia, mental retardation and dysequilibrium syndrome 2, 610185;Congenital hydrocephalus 3 with brain anomalies, 617967 False 3 50;50;0 9.4 False ENSG00000167716 ENSG00000167716 HGNC:26600 WFS1 gene WFS1 NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome 1, 222300 False 3 50;50;0 9.4 False ENSG00000109501 ENSG00000109501 HGNC:12762 WWOX gene WWOX NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Autosomal recessive spinocerebellar ataxia 12, 6143232;Autosomal recessive spinocerebellar ataxia 12, 614322;Early infantile epileptic encephalopathy 28, 616211 False 3 50;50;0 9.4 False ENSG00000186153 ENSG00000186153 HGNC:12799 XK gene XK Expert Review Green;NHS GMS;Literature Adult-onset neurological disorders Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) McLeod syndrome, OMIM:300842 8619554;21714011;11761473;17469188;23192927;37720304;34487382;35977449;24098554;39315078 False 3 100;0;0 9.4 False ENSG00000047597 ENSG00000047597 HGNC:12811 XK gene XK Expert Review Green;NHS GMS;Literature Adult-onset neurological disorders 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 9.4 False ENSG00000047597 ENSG00000047597 HGNC:12811 XPR1 gene XPR1 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 6, OMIM:605237 26231937;25938945 False 3 67;33;0 9.4 False ENSG00000143324 ENSG00000143324 HGNC:12827 XPR1 gene XPR1 NHS GMS;London North GLH;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Basal ganglia calcification, idiopathic, 6, OMIM:616413 25938945 False 3 50;50;0 9.4 False ENSG00000143324 ENSG00000143324 HGNC:12827 ZFYVE26 gene ZFYVE26 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 15, autosomal recessive, OMIM:270700 25842392;25497598 False 3 33;67;0 9.4 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000072121 ENSG00000072121 HGNC:20761 ZFYVE26 gene ZFYVE26 Yorkshire and North East GLH;Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 15, autosomal recessive, OMIM:270700 18394578;19805727 False 3 67;33;0 9.4 False ENSG00000072121 ENSG00000072121 HGNC:20761 AR_CAG str AR Yorkshire and North East GLH;NHS GMS;London North GLH;Expert Review Green;Expert list Adult-onset neurological disorders 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 9.4 False ENSG00000169083 ENSG00000169083 HGNC:644 X 66765160 66765225 67545316 67545383 CAG 35 38 ATN1_CAG str ATN1 NHS GMS;Expert Review Green;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dentatorubral-pallidoluysian atrophy, OMIM:125370 20301664;8136840;20301664;8136840;8136826;7614090 False 3 0;0;0 9.4 False ENSG00000111676 ENSG00000111676 HGNC:3033 12 7045880 7045936 6936717 6936772 CAG 36 48 ATN1_CAG str ATN1 Expert Review Green;Yorkshire and North East GLH;NHS GMS;South West GLH;London North GLH;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dentatorubral-pallidoluysian atrophy, OMIM:125370 20301664;8136826;8136840;7614090 False 3 100;0;0 9.4 False ENSG00000111676 ENSG00000111676 HGNC:3033 12 7045880 7045936 6936717 6936772 CAG 36 48 ATN1_CAG str ATN1 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dentatorubral-pallidoluysian atrophy, OMIM:125370 20301664;8136826;8136840;7614090 False 3 100;0;0 9.4 False ENSG00000111676 ENSG00000111676 HGNC:3033 12 7045880 7045936 6936717 6936772 CAG 36 48 ATXN10_ATTCT str ATXN10 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 10, OMIM:603516 12164725 False 3 100;0;0 9.4 False ENSG00000130638 ENSG00000130638 HGNC:10549 22 46191235 46191304 45795355 45795424 ATTCT 33 800 ATXN10_ATTCT str ATXN10 Expert Review Green;NHS GMS;South West GLH;London North GLH;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 10, OMIM:603516 False 3 100;0;0 9.4 False ENSG00000130638 ENSG00000130638 HGNC:10549 22 46191235 46191304 45795355 45795424 ATTCT 33 800 ATXN10_ATTCT str ATXN10 Expert Review Green;NHS GMS;South West GLH;London North GLH;Expert list Adult-onset neurological disorders 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 9.4 False ENSG00000130638 ENSG00000130638 HGNC:10549 22 46191235 46191304 45795355 45795424 ATTCT 33 800 ATXN1_CAG str ATXN1 NHS GMS;South West GLH;London North GLH;Expert Review Green;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 1, OMIM:164400 False 3 100;0;0 9.4 False ENSG00000124788 ENSG00000124788 HGNC:10548 6 16327867 16327953 16327636 16327722 CAG 36 45 ATXN1_CAG str ATXN1 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 1, OMIM:164400 False 3 100;0;0 9.4 False ENSG00000124788 ENSG00000124788 HGNC:10548 6 16327867 16327953 16327636 16327722 CAG 36 45 ATXN1_CAG str ATXN1 Expert Review Green;NHS GMS;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 1, OMIM:164400 False 3 100;0;0 9.4 False ENSG00000124788 ENSG00000124788 HGNC:10548 6 16327867 16327953 16327636 16327722 CAG 36 45 ATXN2_CAG str ATXN2 Expert Review Green;Yorkshire and North East GLH;NHS GMS;South West GLH;London North GLH;Expert list Adult-onset neurological disorders 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 9.4 False ENSG00000204842 ENSG00000204842 HGNC:10555 12 112036755 112036823 111598951 111599019 CAG 32 35 ATXN2_CAG str ATXN2 NHS GMS;South West GLH;London North GLH;Expert Review Green;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 2, OMIM:183090;{Amyotrophic lateral sclerosis, susceptibility to, 13}, OMIM:183090 False 3 100;0;0 9.4 False ENSG00000204842 ENSG00000204842 HGNC:10555 12 112036755 112036823 111598951 111599019 CAG 32 35 ATXN2_CAG str ATXN2 Expert Review Green;NHS GMS;London North GLH;Expert list Adult-onset neurological disorders 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 False 3 100;0;0 9.4 False ENSG00000204842 ENSG00000204842 HGNC:10555 12 112036755 112036823 111598951 111599019 CAG 32 35 ATXN2_CAG str ATXN2 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 2, OMIM:183090 False 3 100;0;0 9.4 False ENSG00000204842 ENSG00000204842 HGNC:10555 12 112036755 112036823 111598951 111599019 CAG 32 35 ATXN3_CAG str ATXN3 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Machado-Joseph disease, OMIM:109150 False 3 0;0;0 9.4 False ENSG00000066427 ENSG00000066427 HGNC:7106 14 92537355 92537396 92071011 92071052 CAG 45 60 ATXN3_CAG str ATXN3 NHS GMS;South West GLH;London North GLH;Expert Review Green;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Machado-Joseph disease, OMIM:109150 False 3 100;0;0 9.4 False ENSG00000066427 ENSG00000066427 HGNC:7106 14 92537355 92537396 92071011 92071052 CAG 45 60 ATXN3_CAG str ATXN3 Expert Review Green;NHS GMS;London North GLH;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Machado-Joseph disease, OMIM:109150 False 3 100;0;0 9.4 False ENSG00000066427 ENSG00000066427 HGNC:7106 14 92537355 92537396 92071011 92071052 CAG 45 60 ATXN7_CAG str ATXN7 Expert Review Green;Yorkshire and North East GLH;NHS GMS;South West GLH;London North GLH;Expert list Adult-onset neurological disorders 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 9.4 False ENSG00000163635 ENSG00000163635 HGNC:10560 3 63898362 63898391 63912686 63912715 CAG 28 37 ATXN7_CAG str ATXN7 NHS GMS;South West GLH;London North GLH;Expert Review Green;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 7, OMIM:164500 False 3 100;0;0 9.4 False ENSG00000163635 ENSG00000163635 HGNC:10560 3 63898362 63898391 63912686 63912715 CAG 28 37 ATXN7_CAG str ATXN7 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 7, OMIM:164500 False 3 100;0;0 9.4 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 neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 False 3 100;0;0 9.4 False ENSG00000147894 ENSG00000147894 HGNC:28337 9 27573527 27573544 27573529 27573546 GGGGCC 24 200 C9orf72_GGGGCC str C9orf72 NHS GMS;London North GLH;Expert Review Green;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Frontotemporal dementia and/or amyotrophic lateral sclerosis 1, OMIM:105550 False 3 100;0;0 9.4 False ENSG00000147894 ENSG00000147894 HGNC:28337 9 27573527 27573544 27573529 27573546 GGGGCC 24 200 CACNA1A_CAG str CACNA1A NHS GMS;South West GLH;London North GLH;Expert Review Green;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 6, OMIM:183086 False 3 100;0;0 9.4 False ENSG00000141837 ENSG00000141837 HGNC:1388 19 13318673 13318711 13207859 13207897 CAG 19 20 CACNA1A_CAG str CACNA1A Expert Review Green;NHS GMS;Yorkshire and North East GLH;Expert list Adult-onset neurological disorders 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 9.4 False ENSG00000141837 ENSG00000141837 HGNC:1388 19 13318673 13318711 13207859 13207897 CAG 19 20 CACNA1A_CAG str CACNA1A London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 6, OMIM:183086 False 3 100;0;0 9.4 False ENSG00000141837 ENSG00000141837 HGNC:1388 19 13318673 13318711 13207859 13207897 CAG 19 20 CACNA1A_CAG str CACNA1A Expert Review Green;NHS GMS;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 6, OMIM:183086 False 3 100;0;0 9.4 False ENSG00000141837 ENSG00000141837 HGNC:1388 19 13318673 13318711 13207859 13207897 CAG 19 20 CSTB_CCCCGCCCCGCG str CSTB Expert Review Green;NHS GMS;Expert list Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 False 3 100;0;0 9.4 False ENSG00000160213 ENSG00000160213 HGNC:2482 21 45196328 45196351 43776429 43776470 CCCCGCCCCGCG 18 30 CSTB_CCCCGCCCCGCG str CSTB Expert Review Green;NHS GMS;Expert list Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 False 3 100;0;0 9.4 False ENSG00000160213 ENSG00000160213 HGNC:2482 21 45196328 45196351 43776429 43776470 CCCCGCCCCGCG 18 30 FMR1_CGG str FMR1 NHS GMS;Expert Review Green;Expert list Adult-onset neurological disorders Neurology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fragile X tremor/ataxia syndrome, OMIM:300623 False 3 100;0;0 9.4 False ENSG00000102081 ENSG00000102081 HGNC:3775 X 146993569 146993628 147912051 147912110 CGG 55 200 FXN_GAA str FXN NHS GMS;South West GLH;London North GLH;Expert Review Green;Expert list Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia, OMIM:229300;Friedreich ataxia with retained reflexes, OMIM:229300 False 3 100;0;0 9.4 False ENSG00000165060 ENSG00000165060 HGNC:3951 9 71652203 71652220 69037287 69037304 GAA 44 66 FXN_GAA str FXN London North GLH;Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert list Adult-onset neurological disorders Neurology BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia, OMIM:229300;Friedreich ataxia with retained reflexes, OMIM:229300 False 3 100;0;0 9.4 False ENSG00000165060 ENSG00000165060 HGNC:3951 9 71652203 71652220 69037287 69037304 GAA 44 66 HTT_CAG str HTT Expert Review Green;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Huntington disease, OMIM:143100 False 3 100;0;0 9.4 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 neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Huntington disease-like 2, OMIM:606438 False 3 100;0;0 9.4 False ENSG00000154118 ENSG00000154118 HGNC:14203 16 87637894 87637932 87604288 87604326 CTG 29 40 JPH3_CTG str JPH3 NHS GMS;London North GLH;Expert Review Green;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Huntington disease-like 2, OMIM:606438 False 3 100;0;0 9.4 False ENSG00000154118 ENSG00000154118 HGNC:14203 16 87637894 87637932 87604288 87604326 CTG 29 40 NOP56_GGCCTG str NOP56 London North GLH;Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 36, OMIM:614153 False 3 100;0;0 9.4 False ENSG00000101361 ENSG00000101361 HGNC:15911 20 2633380 2633403 2652734 2652757 GGCCTG 15 650 NOP56_GGCCTG str NOP56 Expert Review Green;Yorkshire and North East GLH;NHS GMS;London North GLH;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 36, OMIM:614153 False 3 100;0;0 9.4 False ENSG00000101361 ENSG00000101361 HGNC:15911 20 2633380 2633403 2652734 2652757 GGCCTG 15 650 PPP2R2B_CAG str PPP2R2B Expert Review Green;NHS GMS;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 12, OMIM:604326 False 3 100;0;0 9.4 False ENSG00000156475 ENSG00000156475 HGNC:9305 5 146258292 146258321 146878729 146878758 CAG 33 43 PPP2R2B_CAG str PPP2R2B NHS GMS;South West GLH;London North GLH;Expert Review Green;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 12, OMIM:604326 False 3 100;0;0 9.4 False ENSG00000156475 ENSG00000156475 HGNC:9305 5 146258292 146258321 146878729 146878758 CAG 33 43 PPP2R2B_CAG str PPP2R2B London North GLH;Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 12, OMIM:604326 20301381 False 3 100;0;0 9.4 False ENSG00000156475 ENSG00000156475 HGNC:9305 5 146258292 146258321 146878729 146878758 CAG 33 43 TBP_CAG str TBP London North GLH;Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 17, OMIM:607136 20301611;34906452;35493319 False 3 100;0;0 9.4 False ENSG00000112592 ENSG00000112592 HGNC:11588 6 170870996 170871109 170561908 170562021 CAG 41 49 TBP_CAG str TBP Expert Review Green;NHS GMS;Yorkshire and North East GLH;Expert list Adult-onset neurological disorders 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 9.4 False ENSG00000112592 ENSG00000112592 HGNC:11588 6 170870996 170871109 170561908 170562021 CAG 41 49 TBP_CAG str TBP NHS GMS;South West GLH;London North GLH;Expert Review Green;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 17, OMIM:607136 False 3 100;0;0 9.4 False ENSG00000112592 ENSG00000112592 HGNC:11588 6 170870996 170871109 170561908 170562021 CAG 41 49 TBP_CAG str TBP NHS GMS;London North GLH;Expert Review Green;Expert list Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 17, OMIM:607136;{Parkinson disease, susceptibility to}, OMIM:168600 20301611 False 3 100;0;0 9.4 False ENSG00000112592 ENSG00000112592 HGNC:11588 6 170870996 170871109 170561908 170562021 CAG 41 49 ISCA-37446-Loss region Expert Review Green;NHS GMS Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted DiGeorge syndrome, OMIM:188400;Parkinsonism, HP:0001300 24018986;27017469 False 3 50;50;0 9.4 False 22 18924718 21111383 3 60 cnv_loss 22q11.2 recurrent (DGS/VCFS) region (proximal, A-D) (includes TBX1) Loss ISCA-37478-Gain region NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems;hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636;chromosome 15q11-q13 duplication syndrome 16840569;18374305;9106540 False 3 100;0;0 9.4 False 15 23465365 28134728 3 60 cnv_gain 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain ISCA-37478-Loss region Expert Review Green;NHS GMS;London North GLH Adult-onset neurological disorders 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 9.4 False 15 23465365 28134728 3 60 cnv_loss 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss ISCA-37478-Loss region NHS GMS;Expert Review Green Adult-onset neurological disorders Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown microcephaly;176270;Mental retardation;Angelman syndrome;Prader-Willi syndrome;Developmental delay, muscle weakness;105830 22045295;7611294 False 3 0;0;0 9.4 False 15 23465365 28134728 3 60 cnv_loss 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss