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 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Achalasia-addisonianism-alacrimia syndrome, OMIM:231550;Triple-A syndrome, MONDO:0009279 False 3 50;50;0 8.30 False ENSG00000094914 ENSG00000094914 HGNC:13666 ABHD12 gene ABHD12 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000100997 ENSG00000100997 HGNC:15868 ADCY5 gene ADCY5 Brain channelopathy v1.46;Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial dyskinesia 606703;Dyskinesia with facial myokymia 11310626;24700542 False 3 67;33;0 8.30 False ENSG00000173175 ENSG00000173175 HGNC:236 AFG3L2 gene AFG3L2 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False Other - please provide details in the comments ENSG00000141385 ENSG00000141385 HGNC:315 ANO10 gene ANO10 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia autosomal recessive type 10, 613728;Spinocerebellar ataxia, autosomal recessive 10 False 3 67;33;0 8.30 False ENSG00000160746 ENSG00000160746 HGNC:25519 APTX gene APTX Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000137074 ENSG00000137074 HGNC:15984 ARMC9 gene ARMC9 Expert Review Green;London North GLH;NHS GMS Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30, 617622 11347906;28625504 False 3 50;50;0 8.30 False ENSG00000135931 ENSG00000135931 HGNC:20730 ARSA gene ARSA Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy (#250100);Metachromatic Leukodystrophy, 250100 False 3 33;33;33 8.30 False ENSG00000100299 ENSG00000100299 HGNC:713 ATCAY gene ATCAY Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000167654 ENSG00000167654 HGNC:779 ATM gene ATM Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia, OMIM:208900 False 3 50;50;0 8.30 False ENSG00000149311 ENSG00000149311 HGNC:795 ATP1A2 gene ATP1A2 Brain channelopathy v1.46;Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000018625 ENSG00000018625 HGNC:800 ATP1A3 gene ATP1A3 Brain channelopathy v1.46;Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000105409 ENSG00000105409 HGNC:801 ATP7B gene ATP7B Brain channelopathy v1.46;Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Wilson disease 277900;Wilson disease, 277900 20301685 False 3 67;33;0 8.30 False ENSG00000123191 ENSG00000123191 HGNC:870 AUH gene AUH Expert list;Expert Review Green Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type I, OMIM:250950 20855850;17130438 False 3 100;0;0 8.30 False ENSG00000148090 ENSG00000148090 HGNC:890 B3GALNT2 gene B3GALNT2 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy type A11, 615181 False 3 50;50;0 8.30 False ENSG00000162885 ENSG00000162885 HGNC:28596 BRF1 gene BRF1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Cerebrofaciodental syndrome False 3 50;50;0 8.30 False ENSG00000185024 ENSG00000185024 HGNC:11551 CA8 gene CA8 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000178538 ENSG00000178538 HGNC:1382 CACNA1A gene CACNA1A Brain channelopathy v1.46;Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000141837 ENSG00000141837 HGNC:1388 CACNA1G gene CACNA1G Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 42, 616795;early-onset SCA42 with neurodevelopmental deficits, 618087 False 3 67;33;0 8.30 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 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000171735 ENSG00000171735 HGNC:18806 CAPN1 gene CAPN1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia type 76, 616907 False 3 33;67;0 8.30 False ENSG00000014216 ENSG00000014216 HGNC:1476 CASK gene CASK Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000147044 ENSG00000147044 HGNC:1497 CLCN2 gene CLCN2 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with ataxia, OMIM:615651 23707145;26539602;28473625;31291907 False 3 67;33;0 8.30 False ENSG00000114859 ENSG00000114859 HGNC:2020 CLN6 gene CLN6 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000128973 ENSG00000128973 HGNC:2077 COA7 gene COA7 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000162377 ENSG00000162377 HGNC:25716 COASY gene COASY Expert Review Green;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000068120 ENSG00000068120 HGNC:29932 COG5 gene COG5 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000164597 ENSG00000164597 HGNC:14857 COQ4 gene COQ4 Expert Review Green;Literature;NHS GMS Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 7, OMIM:616276 36047608 False 3 100;0;0 8.30 False ENSG00000167113 ENSG00000167113 HGNC:19693 COQ8A gene COQ8A Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000163050 ENSG00000163050 HGNC:16812 COX20 gene COX20 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110;Mitochondrial complex IV deficiency False 3 50;50;0 8.30 False ENSG00000203667 ENSG00000203667 HGNC:26970 CP gene CP Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Hemosiderosis, systemic, due to aceruloplasminemia, 604290;Cerebellar ataxia, 604290;Aceruloplasminemia, 604290 False 3 67;33;0 8.30 False ENSG00000047457 ENSG00000047457 HGNC:2295 CSTB gene CSTB Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 False 3 67;33;0 8.30 False ENSG00000160213 ENSG00000160213 HGNC:2482 CWF19L1 gene CWF19L1 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 17, 616127;Autosomal recessive spinocerebellar ataxia type 17, 616127 False 3 50;50;0 8.30 False ENSG00000095485 ENSG00000095485 HGNC:25613 CYP27A1 gene CYP27A1 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, 213700 False 3 67;33;0 8.30 False ENSG00000135929 ENSG00000135929 HGNC:2605 CYP2U1 gene CYP2U1 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000155016 ENSG00000155016 HGNC:20582 DARS2 gene DARS2 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, OMIM:611105 False 3 67;33;0 8.30 False ENSG00000117593 ENSG00000117593 HGNC:25538 DDHD2 gene DDHD2 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000085788 ENSG00000085788 HGNC:29106 DNAJC19 gene DNAJC19 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000205981 ENSG00000205981 HGNC:30528 DNAJC5 gene DNAJC5 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000101152 ENSG00000101152 HGNC:16235 DNMT1 gene DNMT1 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000130816 ENSG00000130816 HGNC:2976 EIF2B1 gene EIF2B1 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000111361 ENSG00000111361 HGNC:3257 EIF2B2 gene EIF2B2 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2B3 gene EIF2B3 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000070785 ENSG00000070785 HGNC:3259 EIF2B4 gene EIF2B4 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000115211 ENSG00000115211 HGNC:3260 EIF2B5 gene EIF2B5 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000145191 ENSG00000145191 HGNC:3261 ELOVL4 gene ELOVL4 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 34, 133190;Spinocerebellar ataxia 34 133190 24566826;26010696 False 3 67;33;0 8.30 False ENSG00000118402 ENSG00000118402 HGNC:14415 EPM2A gene EPM2A Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Myoclonic epilepsy of Lafora 1, OMIM:254780 27604308;14722920;10932264 False 3 33;33;33 8.30 False ENSG00000112425 ENSG00000112425 HGNC:3413 ERCC4 gene ERCC4 Expert list;Expert Review Green Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000175595 ENSG00000175595 HGNC:3436 EXOSC3 gene EXOSC3 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1B, OMIM:614678 False 3 50;50;0 8.30 False ENSG00000107371 ENSG00000107371 HGNC:17944 EXOSC9 gene EXOSC9 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 1D, 618065 False 3 50;50;0 8.30 False ENSG00000123737 ENSG00000123737 HGNC:9137 FAT2 gene FAT2 Expert Review Green;Literature;NHS GMS Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 45, OMIM:617769 29053796;33884300;36339299 False 3 100;0;0 8.30 False Other ENSG00000086570 ENSG00000086570 HGNC:3596 FGF14 gene FGF14 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 27;Spinocerebellar ataxia type 27, 609307 False 3 67;33;0 8.30 False ENSG00000102466 ENSG00000102466 HGNC:3671 FLVCR1 gene FLVCR1 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Retinopathy-sensory neuropathy syndrome, OMIM:609033;posterior column ataxia-retinitis pigmentosa syndrome, MONDO:0012177 False 3 50;50;0 8.30 False ENSG00000162769 ENSG00000162769 HGNC:24682 FOLR1 gene FOLR1 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000110195 ENSG00000110195 HGNC:3791 FXN gene FXN Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000165060 ENSG00000165060 HGNC:3951 GBA2 gene GBA2 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 46, 614409;Spastic paraplegia 46, autosomal recessive, 614409 23332916 False 3 67;33;0 8.30 False ENSG00000070610 ENSG00000070610 HGNC:18986 GDAP2 gene GDAP2 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000196505 ENSG00000196505 HGNC:18010 GFAP gene GFAP Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal Dominant Ataxia;Alexander disease;Alexander disease, 203450 False 3 67;33;0 8.30 False ENSG00000131095 ENSG00000131095 HGNC:4235 GJC2 gene GJC2 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 2;Spastic paraplegia 44, 613206;Hypomyelinating leukodystrophy 2, 608804;Autosomal Recessive Ataxia False 3 67;33;0 8.30 False ENSG00000198835 ENSG00000198835 HGNC:17494 GLRA1 gene GLRA1 Brain channelopathy v1.46;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 1, 149400;Hyperekplexia, hereditary 1, 149400 20301437 False 3 50;50;0 8.30 False ENSG00000145888 ENSG00000145888 HGNC:4326 GLRB gene GLRB Brain channelopathy v1.46;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Hyperekplexia 2 OMIM:614619;hyperekplexia 2 MONDO:0013828 23238346;11929858;21391991;33323420 False 3 50;50;0 8.30 False ENSG00000109738 ENSG00000109738 HGNC:4329 GOSR2 gene GOSR2 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 6, 614018;Progressive myoclonic epilepsy 6, 614018 24285620;20301317;21549339 False 3 50;50;0 8.30 False ENSG00000108433 ENSG00000108433 HGNC:4431 GPAA1 gene GPAA1 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 15, 617810 29100095;24896178 False 3 50;50;0 8.30 False ENSG00000197858 ENSG00000197858 HGNC:4446 GRID2 gene GRID2 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 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 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000152822 ENSG00000152822 HGNC:4593 GRN gene GRN Expert Review Green;London North GLH;NHS GMS Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000030582 ENSG00000030582 HGNC:4601 HEXA gene HEXA Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Tay-Sachs disease, 272800;GM2-gangliosidosis, several forms, 272800 False 3 67;33;0 8.30 False ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 False 3 67;33;0 8.30 False ENSG00000049860 ENSG00000049860 HGNC:4879 IRF2BPL gene IRF2BPL Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000119669 ENSG00000119669 HGNC:14282 ITPR1 gene ITPR1 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False Other - please provide details in the comments ENSG00000150995 ENSG00000150995 HGNC:6180 KCNA1 gene KCNA1 Brain channelopathy v1.46;Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000111262 ENSG00000111262 HGNC:6218 KCNA2 gene KCNA2 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Early infantile encephalopathy 32, 616366 False 3 50;50;0 8.30 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 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 13, 605259;Spinocerebellar ataxia 13 False 3 67;33;0 8.30 False ENSG00000131398 ENSG00000131398 HGNC:6235 KCND3 gene KCND3 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 19, 607346;Spinocerebellarataxia19, 607346 False 3 67;33;0 8.30 False ENSG00000171385 ENSG00000171385 HGNC:6239 KCNJ10 gene KCNJ10 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal SESAME syndrome, 612780;Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome False 3 50;50;0 8.30 False ENSG00000177807 ENSG00000177807 HGNC:6256 KCNQ2 gene KCNQ2 Brain channelopathy v1.46;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Early infantile encephalopathy 7, 613720;Myokymia, 121200 False 3 50;50;0 8.30 False ENSG00000075043 ENSG00000075043 HGNC:6296 KIF1C gene KIF1C Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 2, autosomal recessive, OMIM:611302 24319291;24482476;24808017;29544888;31413903 False 3 50;50;0 8.30 False ENSG00000129250 ENSG00000129250 HGNC:6317 MARS2 gene MARS2 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 3, autosomal recessive;Autosomal recessive spastic ataxia 3, 611390 22448145 False 3 33;67;0 8.30 False ENSG00000247626 ENSG00000247626 HGNC:25133 MFN2 gene MFN2 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, axonal, type 2A2A, OMIM:609260 False 3 33;33;33 8.30 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 Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 7 OMIM:610951;neuronal ceroid lipofuscinosis 7 MONDO:0012588 False 3 100;0;0 8.30 False ENSG00000164073 ENSG00000164073 HGNC:28486 MMACHC gene MMACHC Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000132763 ENSG00000132763 HGNC:24525 MRE11 gene MRE11 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia-like disorder 1, 604391;Ataxia-Telangiectasia-Like Disorder False 3 33;67;0 8.30 False ENSG00000020922 ENSG00000020922 HGNC:7230 MSTO1 gene MSTO1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000125459 ENSG00000125459 HGNC:29678 MT-ATP6 gene MT-ATP6 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MITOCHONDRIAL Neuropathy, ataxia and retinitis pigmentosa, NARP, 551500;Neuropathy, Ataxia, and Retinitis Pigmentosa False 3 50;50;0 8.30 False ENSG00000198899 ENSG00000198899 HGNC:7414 MTTP gene MTTP Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Abetalipoproteinemia, 200100;Abetalipoproteinemia False 3 50;50;0 8.30 False ENSG00000138823 ENSG00000138823 HGNC:7467 NAA60 gene NAA60 Expert Review Green;Literature;NHS GMS Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Basal ganglia calcification, idiopathic, 9, autosomal recessive, OMIM:620786;basal ganglia calcification, idiopathic, 9, autosomal recessive, MONDO:0968977 38480682 False 3 100;0;0 8.30 False ENSG00000122390 ENSG00000122390 HGNC:25875 NEU1 gene NEU1 Expert Review Green;NHS GMS Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000204386 ENSG00000204386 HGNC:7758 NHLRC1 gene NHLRC1 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Progressive myoclonic epilepsy 2B, Lafora, 254780;Epilepsy, progressive myoclonic 2B (Lafora) 254780 15781812;12958597 False 3 33;67;0 8.30 False ENSG00000187566 ENSG00000187566 HGNC:21576 NKX2-1 gene NKX2-1 Brain channelopathy v1.46;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000136352 ENSG00000136352 HGNC:11825 NKX6-2 gene NKX6-2 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000148826 ENSG00000148826 HGNC:19321 NPC1 gene NPC1 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease type C1, 257220;Niemann-Pick disease types C1 and D (#257220) False 3 67;33;0 8.30 False ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease type C2 (#607625);Niemann-Pick disease type C2, 607625 False 3 67;33;0 8.30 False ENSG00000119655 ENSG00000119655 HGNC:14537 NPTX1 gene NPTX1 Expert Review Green;Literature;NHS GMS Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 50, OMIM:620158 34788392;35285082;35288776;35560436 False 3 100;0;0 8.30 False Other ENSG00000171246 ENSG00000171246 HGNC:7952 OPA1 gene OPA1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False Other ENSG00000198836 ENSG00000198836 HGNC:8140 OPA3 gene OPA3 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000125741 ENSG00000125741 HGNC:8142 OPHN1 gene OPHN1 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000079482 ENSG00000079482 HGNC:8148 PACS2 gene PACS2 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Early infantile epileptic encephalopathy 66, 618067 False 3 50;50;0 8.30 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 PEX16 gene PEX16 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX6 gene PEX6 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False Other ENSG00000124587 ENSG00000124587 HGNC:8859 PLA2G6 gene PLA2G6 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000184381 ENSG00000184381 HGNC:9039 PMPCA gene PMPCA Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000165688 ENSG00000165688 HGNC:18667 PMPCB gene PMPCB Expert Review Green;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 6 OMIM:617954;multiple mitochondrial dysfunctions syndrome 6 MONDO:0054785 False 3 50;50;0 8.30 False ENSG00000105819 ENSG00000105819 HGNC:9119 PNKD gene PNKD Brain channelopathy v1.46;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Paroxysmal nonkinesigenic dyskinesia 1, 118800;PAROXYSMAL NONKINESIGENIC DYSKINESIA 1 15262732;15496428;15824259 False 3 0;100;0 8.30 False ENSG00000127838 ENSG00000127838 HGNC:9153 PNKP gene PNKP Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000039650 ENSG00000039650 HGNC:9154 PNPLA6 gene PNPLA6 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000032444 ENSG00000032444 HGNC:16268 POLG gene POLG Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000140521 ENSG00000140521 HGNC:9179 POLR3A gene POLR3A Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000148606 ENSG00000148606 HGNC:30074 PRDX3 gene PRDX3 Expert Review Green;Literature;NHS GMS Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 32, OMIM:619862 33889951 False 3 100;0;0 8.30 False ENSG00000165672 ENSG00000165672 HGNC:9354 PRKCG gene PRKCG Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 14;Spincocerebellar ataxia 14, 605361 False 3 67;33;0 8.30 False ENSG00000126583 ENSG00000126583 HGNC:9402 PRNP gene PRNP Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000171867 ENSG00000171867 HGNC:9449 PRRT2 gene PRRT2 Brain channelopathy v1.46;Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000167371 ENSG00000167371 HGNC:30500 PTRH2 gene PTRH2 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000141378 ENSG00000141378 HGNC:24265 PUM1 gene PUM1 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 47, 617931 False 3 67;33;0 8.30 False ENSG00000134644 ENSG00000134644 HGNC:14957 RAB3A gene RAB3A Expert Review Green;NHS GMS;Research Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted RAB3A associated cerebellar ataxia;pyramidal features;neurodevelopmental delay 36928819;40166812 False 3 100;0;0 8.30 False ENSG00000105649 ENSG00000105649 HGNC:9777 RARS2 gene RARS2 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal epilepsy;Pontocerebellar hypoplasia;Pontocerebellar hypoplasia 6, 611523 False 3 50;50;0 8.30 False ENSG00000146282 ENSG00000146282 HGNC:21406 RNF170 gene RNF170 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal dominant sensory ataxia 1, 608984;Ataxia, sensory, 1, autosomal dominant False 3 67;33;0 8.30 False ENSG00000120925 ENSG00000120925 HGNC:25358 RNF216 gene RNF216 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and hypogonadotropic hypogonadism, 212840;Cerebellar ataxia and hypogonadotrophic hypogonadism False 3 67;33;0 8.30 False ENSG00000011275 ENSG00000011275 HGNC:21698 ROBO3 gene ROBO3 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Familial horizontal gaze palsy with progressive scoliosis, 607313 False 3 50;50;0 8.30 False ENSG00000154134 ENSG00000154134 HGNC:13433 SACS gene SACS Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Charlevoix-Saguenay spastic ataxia, 270550;Spastic ataxia, Charlevoix-Saguenay type False 3 67;33;0 8.30 False ENSG00000151835 ENSG00000151835 HGNC:10519 SAMD9L gene SAMD9L Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ataxia-pancytopenia syndrome, 159550 False 3 67;33;0 8.30 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 Brain channelopathy v1.46;Expert Review Green;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000144285 ENSG00000144285 HGNC:10585 SCN8A gene SCN8A Brain channelopathy v1.46;Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000196876 ENSG00000196876 HGNC:10596 SEPSECS gene SEPSECS Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2D, 613811;Pontocerebellar hypoplasia type 2D (613811) False 3 50;50;0 8.30 False ENSG00000109618 ENSG00000109618 HGNC:30605 SETX gene SETX Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, OMIM:606002 False 3 67;33;0 8.30 False ENSG00000107290 ENSG00000107290 HGNC:445 SIL1 gene SIL1 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Marinesco-Sjogren syndrome, 248800 False 3 50;50;0 8.30 False ENSG00000120725 ENSG00000120725 HGNC:24624 SLC1A3 gene SLC1A3 Brain channelopathy v1.46;Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000079215 ENSG00000079215 HGNC:10941 SLC25A46 gene SLC25A46 Expert Review Green;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000164209 ENSG00000164209 HGNC:25198 SLC2A1 gene SLC2A1 Brain channelopathy v1.46;Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC39A8 gene SLC39A8 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation type IIN, 616721 False 3 50;50;0 8.30 False ENSG00000138821 ENSG00000138821 HGNC:20862 SLC52A2 gene SLC52A2 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Bwon-Vialetto-Van Laere syndrome 2, 614707 False 3 50;50;0 8.30 False ENSG00000185803 ENSG00000185803 HGNC:30224 SLC9A6 gene SLC9A6 Expert Review Green;Hereditary ataxia v1.148 Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000198689 ENSG00000198689 HGNC:11079 SNX14 gene SNX14 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Autosomal recessive spinocerebellar ataxia (#616354);Autosomal recessive spinocerebellar ataxia 20, 616354 False 3 67;33;0 8.30 False ENSG00000135317 ENSG00000135317 HGNC:14977 SPG7 gene SPG7 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000197912 ENSG00000197912 HGNC:11237 SPTAN1 gene SPTAN1 Expert Review Green;Literature;NHS GMS Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000197694 ENSG00000197694 HGNC:11273 SPTBN2 gene SPTBN2 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000173898 ENSG00000173898 HGNC:11276 SQSTM1 gene SQSTM1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with ataxia, dystonia, and gaze palsy, 617145 False 3 50;50;0 8.30 False ENSG00000161011 ENSG00000161011 HGNC:11280 SRD5A3 gene SRD5A3 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000128039 ENSG00000128039 HGNC:25812 STUB1 gene STUB1 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000103266 ENSG00000103266 HGNC:11427 SYNE1 gene SYNE1 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743;Autosomal recessive ataxia, Beauce type, MONDO:0012549 False 3 67;33;0 8.30 False ENSG00000131018 ENSG00000131018 HGNC:17089 SYNGAP1 gene SYNGAP1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder, autosomal dominant 5, OMIM:612621 False 3 50;50;0 8.30 False ENSG00000197283 ENSG00000197283 HGNC:11497 TDP1 gene TDP1 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000042088 ENSG00000042088 HGNC:18884 TMEM240 gene TMEM240 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 21, 607454 False 3 67;33;0 8.30 False ENSG00000205090 ENSG00000205090 HGNC:25186 TOE1 gene TOE1 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 7, 614969 False 3 50;50;0 8.30 False ENSG00000132773 ENSG00000132773 HGNC:15954 TPP1 gene TPP1 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000166340 ENSG00000166340 HGNC:2073 TSEN2 gene TSEN2 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 2B, 612389 False 3 50;50;0 8.30 False ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN54 gene TSEN54 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2A, OMIM:277470;Pontocerebellar hypoplasia type 4, OMIM:225753 False 3 50;50;0 8.30 False ENSG00000182173 ENSG00000182173 HGNC:27561 TTBK2 gene TTBK2 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 11, 604432;Spinocerebellar ataxia 11 False 3 67;33;0 8.30 False ENSG00000128881 ENSG00000128881 HGNC:19141 TTPA gene TTPA Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000137561 ENSG00000137561 HGNC:12404 TUBA1A gene TUBA1A Expert Review Green;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lissencephaly 3, 611603 False 3 50;50;0 8.30 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;Literature;NHS GMS Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000127824 ENSG00000127824 HGNC:12407 TUBB2B gene TUBB2B Expert Review Green;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 7, OMIM:610031 False 3 50;50;0 8.30 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 Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Complex cortical dysplasia with other brain abnormalities 1, 614039 False 3 50;50;0 8.30 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 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False Other - please provide details in the comments ENSG00000104833 ENSG00000104833 HGNC:20774 TWNK gene TWNK Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000107815 ENSG00000107815 HGNC:1160 UBA5 gene UBA5 Expert Review Green;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Early infantile epileptic encephalopathy 44, 617132;Autosomal recessive spinocerebellar ataxia 24, 617133 False 3 50;50;0 8.30 False ENSG00000081307 ENSG00000081307 HGNC:23230 UCHL1 gene UCHL1 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000154277 ENSG00000154277 HGNC:12513 VLDLR gene VLDLR Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000147852 ENSG00000147852 HGNC:12698 VPS13D gene VPS13D Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 4, OMIM:607317 False 3 67;33;0 8.30 False ENSG00000048707 ENSG00000048707 HGNC:23595 VPS53 gene VPS53 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 2E, 615851 24577744 False 3 50;50;0 8.30 False ENSG00000141252 ENSG00000141252 HGNC:25608 WDR73 gene WDR73 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000177082 ENSG00000177082 HGNC:25928 WDR81 gene WDR81 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000167716 ENSG00000167716 HGNC:26600 WFS1 gene WFS1 Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome 1, 222300 False 3 50;50;0 8.30 False ENSG00000109501 ENSG00000109501 HGNC:12762 WWOX gene WWOX Expert Review Green;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000186153 ENSG00000186153 HGNC:12799 ZFYVE26 gene ZFYVE26 Expert Review Green;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 15, autosomal recessive, OMIM:270700 25842392;25497598 False 3 33;67;0 8.30 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 ATN1_CAG str ATN1 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Expert list Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dentatorubral-pallidoluysian atrophy, OMIM:125370 20301664;8136826;8136840;7614090 False 3 100;0;0 8.30 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 Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 10, OMIM:603516 12164725 False 3 100;0;0 8.30 False ENSG00000130638 ENSG00000130638 HGNC:10549 22 46191235 46191304 45795355 45795424 ATTCT 33 800 ATXN1_CAG str ATXN1 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Expert list Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 1, OMIM:164400 False 3 100;0;0 8.30 False ENSG00000124788 ENSG00000124788 HGNC:10548 6 16327867 16327953 16327636 16327722 CAG 36 45 ATXN2_CAG str ATXN2 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Expert list Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 2, OMIM:183090 False 3 100;0;0 8.30 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 Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Machado-Joseph disease, OMIM:109150 False 3 0;0;0 8.30 False ENSG00000066427 ENSG00000066427 HGNC:7106 14 92537355 92537396 92071011 92071052 CAG 45 60 ATXN7_CAG str ATXN7 London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Expert list Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 7, OMIM:164500 False 3 100;0;0 8.30 False ENSG00000163635 ENSG00000163635 HGNC:10560 3 63898362 63898391 63912686 63912715 CAG 28 37 CACNA1A_CAG str CACNA1A London North GLH;NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Expert list Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 6, OMIM:183086 False 3 100;0;0 8.30 False ENSG00000141837 ENSG00000141837 HGNC:1388 19 13318673 13318711 13207859 13207897 CAG 19 20 CSTB_CCCCGCCCCGCG str CSTB Expert Review Green;NHS GMS;Expert list Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 False 3 100;0;0 8.30 False ENSG00000160213 ENSG00000160213 HGNC:2482 21 45196328 45196351 43776429 43776470 CCCCGCCCCGCG 18 30 FMR1_CGG str FMR1 NHS GMS;Expert Review Green;Expert list Hereditary ataxia with onset in adulthood 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 8.30 False ENSG00000102081 ENSG00000102081 HGNC:3775 X 146993569 146993628 147912051 147912110 CGG 55 200 FXN_GAA str FXN London North GLH;Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert list Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia, OMIM:229300;Friedreich ataxia with retained reflexes, OMIM:229300 False 3 100;0;0 8.30 False ENSG00000165060 ENSG00000165060 HGNC:3951 9 71652203 71652220 69037287 69037304 GAA 44 66 NOP56_GGCCTG str NOP56 London North GLH;Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert list Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 36, OMIM:614153 False 3 100;0;0 8.30 False ENSG00000101361 ENSG00000101361 HGNC:15911 20 2633380 2633403 2652734 2652757 GGCCTG 15 650 PPP2R2B_CAG str PPP2R2B London North GLH;Wessex and West Midlands GLH;NHS GMS;Expert Review Green;Expert list Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 12, OMIM:604326 20301381 False 3 100;0;0 8.30 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 Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 17, OMIM:607136 20301611;34906452;35493319 False 3 100;0;0 8.30 False ENSG00000112592 ENSG00000112592 HGNC:11588 6 170870996 170871109 170561908 170562021 CAG 41 49 ISCA-37478-Gain region NHS GMS;Wessex and West Midlands GLH;Expert Review Green;Hereditary ataxia v1.148 Hereditary ataxia with onset in adulthood 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 8.30 False 15 23465365 28134728 3 60 cnv_gain 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain ISCA-37478-Loss region NHS GMS;Expert Review Green Hereditary ataxia with onset in adulthood 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 8.30 False 15 23465365 28134728 3 60 cnv_loss 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss