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;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Achalasia-addisonianism-alacrimia syndrome, OMIM:231550;Triple-A syndrome, MONDO:0009279 False 3 100;0;0 1.344 True ENSG00000094914 ENSG00000094914 HGNC:13666 ABCB7 gene ABCB7 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Anemia, sideroblastic, with ataxia, OMIM:301310 False 3 100;0;0 1.344 True ENSG00000131269 ENSG00000131269 HGNC:48 ABHD12 gene ABHD12 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract ;Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC) False 3 100;0;0 1.344 True ENSG00000100997 ENSG00000100997 HGNC:15868 AFG3L2 gene AFG3L2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia 28, OMIM:610246;Spastic ataxia 5, autosomal recessive, OMIM:614487 False 3 100;0;0 1.344 True Other - please provide details in the comments ENSG00000141385 ENSG00000141385 HGNC:315 AMPD2 gene AMPD2 Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 9 (#615809);Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014). PMID: 24482476 False 3 100;0;0 1.344 True ENSG00000116337 ENSG00000116337 HGNC:469 ANO10 gene ANO10 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 10, False 3 100;0;0 1.344 True ENSG00000160746 ENSG00000160746 HGNC:25519 AP1S2 gene AP1S2 Expert Review Green;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Pettigrew syndrome, OMIM:304340 False 3 100;0;0 1.344 True ENSG00000182287 ENSG00000182287 HGNC:560 APTX gene APTX Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia with Oculomotor Apraxia ;Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia False 3 100;0;0 1.344 True ENSG00000137074 ENSG00000137074 HGNC:15984 ARSA gene ARSA Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Metachromatic leukodystrophy (#250100) False 3 100;0;0 1.344 True ENSG00000100299 ENSG00000100299 HGNC:713 ATCAY gene ATCAY Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia, cerebellar, Cayman type OMIM:601238;Cayman type cerebellar ataxia MONDO:0011025 29449188;14556008;23226316;26343454 False 3 100;0;0 1.344 True ENSG00000167654 ENSG00000167654 HGNC:779 ATM gene ATM Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia, OMIM:208900 False 3 100;0;0 1.344 True ENSG00000149311 ENSG00000149311 HGNC:795 ATP1A3 gene ATP1A3 Expert List;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders 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) and Dystonia 12 (#128235) False 3 100;0;0 1.344 True ENSG00000105409 ENSG00000105409 HGNC:801 CA8 gene CA8 Expert Review Green;Radboud University Medical Center, Nijmegen Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 False 3 100;0;0 1.344 True ENSG00000178538 ENSG00000178538 HGNC:1382 CACNA1A gene CACNA1A Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia, type 2, OMIM:108500;Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia, OMIM:141500 False 3 100;0;0 1.344 True ENSG00000141837 ENSG00000141837 HGNC:1388 CACNA1G gene CACNA1G Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 42, 61679 False 3 100;0;0 1.344 True 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 CACNA2D2 gene CACNA2D2 Expert Review Green;Other Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal epilepsy;ataxia;developmental delay;cerebellar atrophy 30410802;31402629;24358150;23339110;29997391;14660671;15331424 False 3 100;0;0 1.344 False ENSG00000007402 ENSG00000007402 HGNC:1400 CAMTA1 gene CAMTA1 Expert Review Green;Radboud University Medical Center, Nijmegen Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebellarataxia, nonprogressive, with mental retardation, 614756 False 3 100;0;0 1.344 True ENSG00000171735 ENSG00000171735 HGNC:18806 CASK gene CASK Expert Review Green;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders 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 3 100;0;0 1.344 True ENSG00000147044 ENSG00000147044 HGNC:1497 CHMP1A gene CHMP1A Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 8, 614961 False 3 100;0;0 1.344 False ENSG00000131165 ENSG00000131165 HGNC:8740 CLCN2 gene CLCN2 Expert Review Green;Literature Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with ataxia, OMIM:615651 23707145;26539602;28473625;31291907 False 3 100;0;0 1.344 False ENSG00000114859 ENSG00000114859 HGNC:2020 CLN6 gene CLN6 Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 6, 601780;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 False 3 100;0;0 1.344 True ENSG00000128973 ENSG00000128973 HGNC:2077 CLP1 gene CLP1 Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 10 OMIM:615803;Pontocerebellar hypoplasia type 10 MONDO:0014349 24766810;24766809;29307788 False 3 100;0;0 1.344 True ENSG00000172409 ENSG00000172409 HGNC:16999 COQ8A gene COQ8A Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary 4, 612016;Spinocerebellar Ataxia Type False 3 100;0;0 1.344 True ENSG00000163050 ENSG00000163050 HGNC:16812 COX20 gene COX20 Expert Review Green;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110 False 3 100;0;0 1.344 True ENSG00000203667 ENSG00000203667 HGNC:26970 CP gene CP Expert Review Green;Radboud University Medical Center, Nijmegen Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, 604290;Hemosiderosis, systemic, due to aceruloplasminemia, 604290 False 3 100;0;0 1.344 True ENSG00000047457 ENSG00000047457 HGNC:2295 CSTB gene CSTB Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 False 3 100;0;0 1.344 False ENSG00000160213 ENSG00000160213 HGNC:2482 CWF19L1 gene CWF19L1 Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 17, 616127 False 3 100;0;0 1.344 True ENSG00000095485 ENSG00000095485 HGNC:25613 CYP27A1 gene CYP27A1 Expert Review Green;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, 213700 27604308 False 3 100;0;0 1.344 True ENSG00000135929 ENSG00000135929 HGNC:2605 CYP2U1 gene CYP2U1 Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients. False 3 100;0;0 1.344 True ENSG00000155016 ENSG00000155016 HGNC:20582 DAGLA gene DAGLA Expert Review Green;Literature Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ataxia, HP:0001251 35737950 False 3 100;0;0 1.344 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000134780 ENSG00000134780 HGNC:1165 DARS2 gene DARS2 Expert Review Green;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 False 3 100;0;0 1.344 True ENSG00000117593 ENSG00000117593 HGNC:25538 DDHD2 gene DDHD2 Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132. False 3 100;0;0 1.344 True ENSG00000085788 ENSG00000085788 HGNC:29106 DNAJC19 gene DNAJC19 Expert Review Green;Literature Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "3-methylglutaconic aciduria, type V 610198;dilated cardiomyopathy with ataxia (DCMA) syndrome" 16055927;22797137;27604308;27928778;27426421 False 3 0;0;0 1.344 False ENSG00000205981 ENSG00000205981 HGNC:30528 DNAJC5 gene DNAJC5 Emory Genetics Laboratory;Expert Review;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Ceroid lipofuscinosis, neuronal, 4, Parry type 162350" 27604308; 21820099 False 3 100;0;0 1.344 False ENSG00000101152 ENSG00000101152 HGNC:16235 DNMT1 gene DNMT1 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, False 3 100;0;0 1.344 True ENSG00000130816 ENSG00000130816 HGNC:2976 EIF2B1 gene EIF2B1 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease;Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter False 3 100;0;0 1.344 True ENSG00000111361 ENSG00000111361 HGNC:3257 EIF2B2 gene EIF2B2 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease;Leukoencephalopathy with vanishing white matter, 603896 False 3 100;0;0 1.344 True ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2B3 gene EIF2B3 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease False 3 100;0;0 1.344 True ENSG00000070785 ENSG00000070785 HGNC:3259 EIF2B4 gene EIF2B4 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease False 3 100;0;0 1.344 True ENSG00000115211 ENSG00000115211 HGNC:3260 EIF2B5 gene EIF2B5 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease False 3 100;0;0 1.344 True ENSG00000145191 ENSG00000145191 HGNC:3261 ELOVL4 gene ELOVL4 Expert Review Green;Literature Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Spinocerebellar ataxia 34 133190" 26010696; 24566826 False 3 100;0;0 1.344 False ENSG00000118402 ENSG00000118402 HGNC:14415 EPM2A gene EPM2A Emory Genetics Laboratory;Expert Review;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Myoclonic epilepsy of Lafora 1, OMIM:254780 27604308; 10932264; 14722920 False 3 100;0;0 1.344 False ENSG00000112425 ENSG00000112425 HGNC:3413 EXOSC3 gene EXOSC3 Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1B, OMIM:614678 False 3 100;0;0 1.344 False ENSG00000107371 ENSG00000107371 HGNC:17944 FGF14 gene FGF14 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 27 False 3 100;0;0 1.344 True ENSG00000102466 ENSG00000102466 HGNC:3671 FLVCR1 gene FLVCR1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia, posterior column, with retinitis pigmentosa, ;Posterior Column Ataxia with Retinitis Pigmentosa False 3 100;0;0 1.344 True ENSG00000162769 ENSG00000162769 HGNC:24682 FOLR1 gene FOLR1 Expert Review Green;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration due to cerebral folate transport deficiency, 613068 False 3 100;0;0 1.344 True ENSG00000110195 ENSG00000110195 HGNC:3791 FXN gene FXN Eligibility statement prior genetic testing;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia OMIM:229300;Friedreich ataxia with retained reflexes OMIM:229300;Friedreich ataxia 1 MONDO:0100340 False 3 0;100;0 1.344 True ENSG00000165060 ENSG00000165060 HGNC:3951 GBA2 gene GBA2 Expert Review Green;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 46, autosomal recessive, 614409 23332916 False 3 100;0;0 1.344 True ENSG00000070610 ENSG00000070610 HGNC:18986 GFAP gene GFAP Expert list;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal Dominant Ataxia;Alexander disease False 3 0;0;0 1.344 True ENSG00000131095 ENSG00000131095 HGNC:4235 GJC2 gene GJC2 Expert list;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Autosomal Recessive Ataxia;Leukodystrophy, hypomyelinating, 2 False 3 0;0;0 1.344 True ENSG00000198835 ENSG00000198835 HGNC:17494 GOSR2 gene GOSR2 Expert Review Green;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 6, 614018 20301317;21549339;24285620 False 3 100;0;0 1.344 True ENSG00000108433 ENSG00000108433 HGNC:4431 GPAA1 gene GPAA1 Expert Review Green;Literature Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 15, 617810 29100095;24896178 False 3 100;0;0 1.344 False ENSG00000197858 ENSG00000197858 HGNC:4446 GRID2 gene GRID2 Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 18, 616204 25841024 False 3 100;0;0 1.344 True ENSG00000152208 ENSG00000152208 HGNC:4576 GRM1 gene GRM1 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders 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 3 100;0;0 1.344 True ENSG00000152822 ENSG00000152822 HGNC:4593 HEXA gene HEXA Expert Review Green;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, several forms, 272800;Tay-Sachs disease, 272800 False 3 100;0;0 1.344 True ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB Expert Review Green;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sandhoff disease, infantile, juvenile, and adult forms, OMIM:268800 False 3 100;0;0 1.344 True ENSG00000049860 ENSG00000049860 HGNC:4879 ITPR1 gene ITPR1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 29;Spinocerebellar ataxia 15 False 3 100;0;0 1.344 True Other - please provide details in the comments ENSG00000150995 ENSG00000150995 HGNC:6180 KCNA1 gene KCNA1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia/myokymia syndrome, False 3 100;0;0 1.344 True ENSG00000111262 ENSG00000111262 HGNC:6218 KCNC3 gene KCNC3 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 13 False 3 100;0;0 1.344 True ENSG00000131398 ENSG00000131398 HGNC:6235 KCND3 gene KCND3 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellarataxia19,607346 False 3 100;0;0 1.344 True ENSG00000171385 ENSG00000171385 HGNC:6239 KCNJ10 gene KCNJ10 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome False 3 100;0;0 1.344 True ENSG00000177807 ENSG00000177807 HGNC:6256 KIF1C gene KIF1C Expert Review Green;Radboud University Medical Center, Nijmegen Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 2, autosomal recessive, OMIM:611302 24319291;24482476;24808017;29544888;31413903 False 3 100;0;0 1.344 True ENSG00000129250 ENSG00000129250 HGNC:6317 MARS2 gene MARS2 Expert Review Green;Radboud University Medical Center, Nijmegen Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 3, autosomal recessive, OMIM:611390 PubMed: 22448145 False 3 0;0;100 1.344 True ENSG00000247626 ENSG00000247626 HGNC:25133 MMACHC gene MMACHC Expert review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia and hypogonadism;Methylmalonic aciduria and homocystinuria, cblC type, 277400 26283149 False 3 0;0;100 1.344 True ENSG00000132763 ENSG00000132763 HGNC:24525 MRE11 gene MRE11 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia-Telangiectasia-Like Disorder ;Ataxia-telangiectasia-like disorder False 3 100;0;0 1.344 True ENSG00000020922 ENSG00000020922 HGNC:7230 MT-ATP6 gene MT-ATP6 Emory Genetics Laboratory;Expert Review Green;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MITOCHONDRIAL Neuropathy, Ataxia, and Retinitis Pigmentosa False 3 100;0;0 1.344 True ENSG00000198899 ENSG00000198899 HGNC:7414 MTTP gene MTTP Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Abetalipoproteinemia, 200100 False 3 100;0;0 1.344 False ENSG00000138823 ENSG00000138823 HGNC:7467 NFASC gene NFASC Expert Review Green;Literature Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with central and peripheral motor dysfunction, OMIM:618356;neurodevelopmental disorder with central and peripheral motor dysfunction, MONDO:0032698 30850329;31608123;31501903 False 3 100;0;0 1.344 False ENSG00000163531 ENSG00000163531 HGNC:29866 NHLRC1 gene NHLRC1 Emory Genetics Laboratory;Expert Review;Illumina TruGenome Clinical Sequencing Services;Literature;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Epilepsy, progressive myoclonic 2B (Lafora) 254780" 12958597; 15781812 False 3 100;0;0 1.344 False ENSG00000187566 ENSG00000187566 HGNC:21576 NKX6-2 gene NKX6-2 Expert Review Green;Literature Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, OMIM:617560 28575651; 15601927 False 3 100;0;0 1.344 False ENSG00000148826 ENSG00000148826 HGNC:19321 NPC1 gene NPC1 Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease types C1 and D (#257220) False 3 100;0;0 1.344 True ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease type C2 (#607625) False 3 100;0;0 1.344 True ENSG00000119655 ENSG00000119655 HGNC:14537 NUS1 gene NUS1 Expert Review Green;Literature Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hereditary ataxia, MONDO:0100309 31656175;32485575;32959737;33731878;38291835 False 3 100;0;0 1.344 False ENSG00000153989 ENSG00000153989 HGNC:21042 OPA3 gene OPA3 Expert Review Green;Literature;Other Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type III, 258501;Costeff syndrome 25201222; 11668429;24944951;25657044;20301646 False 3 100;0;0 1.344 False ENSG00000125741 ENSG00000125741 HGNC:8142 OPHN1 gene OPHN1 Expert Review Green;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 False 3 100;0;0 1.344 True ENSG00000079482 ENSG00000079482 HGNC:8148 PAX6 gene PAX6 Expert Review Green;Illumina TruGenome Clinical Sequencing Services Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Aniridia, Cerebellar Ataxia, And Mental Retardation False 3 100;0;0 1.344 True ENSG00000007372 ENSG00000007372 HGNC:8620 PDYN gene PDYN Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 23 False 3 100;0;0 1.344 True ENSG00000101327 ENSG00000101327 HGNC:8820 PEX16 gene PEX16 Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis;Zellweger syndrome (614876) False 3 100;0;0 1.344 False ENSG00000121680 ENSG00000121680 HGNC:8857 PLA2G6 gene PLA2G6 Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Infantile neuroaxonal dystrophy 1 (#256600);Neurodegeneration with brain iron accumulation 2B (#610217);Parkinson disease 14 (#612953) False 3 100;0;0 1.344 False ENSG00000184381 ENSG00000184381 HGNC:9039 PMPCA gene PMPCA Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families. PMID:25808372 False 3 100;0;0 1.344 True ENSG00000165688 ENSG00000165688 HGNC:18667 PNKP gene PNKP Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia with oculomotor apraxia 4 (#616267) False 3 100;0;0 1.344 False ENSG00000039650 ENSG00000039650 HGNC:9154 PNPLA6 gene PNPLA6 Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients;Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470);Oliver-McFarlane syndrome (#603197) False 3 100;0;0 1.344 True ENSG00000032444 ENSG00000032444 HGNC:16268 POLG gene POLG Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) False 3 100;0;0 1.344 True ENSG00000140521 ENSG00000140521 HGNC:9179 POLR3A gene POLR3A Expert list;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Autosomal Recessive Ataxia;Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism 25655951;21855841 False 3 0;0;0 1.344 True ENSG00000148606 ENSG00000148606 HGNC:30074 PRKCG gene PRKCG Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 14 False 3 100;0;0 1.344 True ENSG00000126583 ENSG00000126583 HGNC:9402 PRNP gene PRNP Expert list;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal Dominant Ataxia;Creutzfeldt-Jakob disease;Gerstmann-Straussler disease;Huntington disease-like 1;Insomnia, fatal familial False 3 0;0;0 1.344 True ENSG00000171867 ENSG00000171867 HGNC:9449 PRRT2 gene PRRT2 Expert Review Green;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066;Episodic kinesigenic dyskinesia 1, 128200;Seizures, benign familial infantile, 2, 605751 False 3 100;0;0 1.344 True ENSG00000167371 ENSG00000167371 HGNC:30500 RAB3A gene RAB3A Expert Review Green;Research Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted RAB3A associated cerebellar ataxia;pyramidal features;neurodevelopmental delay 36928819;40166812 False 3 100;0;0 1.344 False ENSG00000105649 ENSG00000105649 HGNC:9777 RARS2 gene RARS2 Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia;epilepsy False 3 100;0;0 1.344 False ENSG00000146282 ENSG00000146282 HGNC:21406 RNF170 gene RNF170 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ataxia, sensory, 1, autosomal dominant False 3 100;0;0 1.344 True ENSG00000120925 ENSG00000120925 HGNC:25358 RNF216 gene RNF216 Expert Review Green;Radboud University Medical Center, Nijmegen Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 False 3 100;0;0 1.344 True ENSG00000011275 ENSG00000011275 HGNC:21698 SACS gene SACS Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia, Charlevoix-Saguenay type False 3 100;0;0 1.344 True ENSG00000151835 ENSG00000151835 HGNC:10519 SCN8A gene SCN8A Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cognitive impairment with or without cerebellar ataxia, OMIM:614306;Developmental and epileptic encephalopathy 13, OMIM:614558 16236810;22365152;25725044;28702509;31675620;31887642 False 3 50;0;50 1.344 True ENSG00000196876 ENSG00000196876 HGNC:10596 SEPSECS gene SEPSECS Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2D (613811) False 3 100;0;0 1.344 True ENSG00000109618 ENSG00000109618 HGNC:30605 SETX gene SETX Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, OMIM:606002 False 3 100;0;0 1.344 True ENSG00000107290 ENSG00000107290 HGNC:445 SIL1 gene SIL1 Expert Review Green;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Marinesco-Sjogren syndrome, 248800 False 3 100;0;0 1.344 True ENSG00000120725 ENSG00000120725 HGNC:24624 SLC1A3 gene SLC1A3 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia, type 6, False 3 100;0;0 1.344 True ENSG00000079215 ENSG00000079215 HGNC:10941 SLC2A1 gene SLC2A1 Expert Review Green;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dystonia 9, 601042;GLUT1 deficiency syndrome 1, infantile onset, severe, 606777;GLUT1 deficiency syndrome 2, childhood onset, 612126;Stomatin-deficient cryohydrocytosis with neurologic defects, 608885 False 3 100;0;0 1.344 True ENSG00000117394 ENSG00000117394 HGNC:11005 SLC9A6 gene SLC9A6 Expert Review Green;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders 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 3 100;0;0 1.344 True ENSG00000198689 ENSG00000198689 HGNC:11079 SNX14 gene SNX14 Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Autosomal recessive spinocerebellar ataxia (#616354) False 3 100;0;0 1.344 True ENSG00000135317 ENSG00000135317 HGNC:14977 SPG7 gene SPG7 Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders 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 False 3 100;0;0 1.344 True ENSG00000197912 ENSG00000197912 HGNC:11237 SPTBN2 gene SPTBN2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spinocerebellar ataxia 5, OMIM:600224;Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386 False 3 50;0;50 1.344 True ENSG00000173898 ENSG00000173898 HGNC:11276 SRD5A3 gene SRD5A3 Expert Review Green;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Iq, 612379;Kahrizi syndrome, 612713 False 3 100;0;0 1.344 True ENSG00000128039 ENSG00000128039 HGNC:25812 STUB1 gene STUB1 Expert Review Green;Radboud University Medical Center, Nijmegen Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders 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 3 100;0;0 1.344 True ENSG00000103266 ENSG00000103266 HGNC:11427 SYNE1 gene SYNE1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 8, OMIM:610743;Autosomal recessive ataxia, Beauce type, MONDO:0012549 False 3 100;0;0 1.344 True ENSG00000131018 ENSG00000131018 HGNC:17089 TGM6 gene TGM6 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 35, 613908 False 3 100;0;0 1.344 True ENSG00000166948 ENSG00000166948 HGNC:16255 TMEM240 gene TMEM240 Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 21, 607454 False 3 100;0;0 1.344 True ENSG00000205090 ENSG00000205090 HGNC:25186 TPP1 gene TPP1 Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis, neuronal, 2, 204500;Spinocerebellar ataxia, autosomal recessive 7, 609270 False 3 100;0;0 1.344 True ENSG00000166340 ENSG00000166340 HGNC:2073 TSEN2 gene TSEN2 Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 2B, 612389 False 3 100;0;0 1.344 True ENSG00000154743 ENSG00000154743 HGNC:28422 TSEN54 gene TSEN54 Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 2A, OMIM:277470;Pontocerebellar hypoplasia type 4, OMIM:225753 False 3 100;0;0 1.344 True ENSG00000182173 ENSG00000182173 HGNC:27561 TTBK2 gene TTBK2 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 11 False 3 100;0;0 1.344 True ENSG00000128881 ENSG00000128881 HGNC:19141 TTC19 gene TTC19 Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type 2, 615157 False 3 100;0;0 1.344 True ENSG00000011295 ENSG00000011295 HGNC:26006 TTPA gene TTPA Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia with Vitamin E Deficiency ;Ataxia with isolated vitamin E deficiency False 3 100;0;0 1.344 True ENSG00000137561 ENSG00000137561 HGNC:12404 TUBB4A gene TUBB4A Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukodystrophy, hypomyelinating, 6, 612438;Dystonia 4, torsion, autosomal dominant, 128101 25497598 False 3 100;0;0 1.344 True Other - please provide details in the comments ENSG00000104833 ENSG00000104833 HGNC:20774 TWNK gene TWNK Expert Review Green;Illumina TruGenome Clinical Sequencing Services Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245 (AR);Perrault syndrome 5, OMIM:616138 (AR);Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286 (AD) False 3 100;0;0 1.344 True ENSG00000107815 ENSG00000107815 HGNC:1160 UCHL1 gene UCHL1 Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders 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;11555633;33159930;35986737 False 3 75;0;25 1.344 True ENSG00000154277 ENSG00000154277 HGNC:12513 VLDLR gene VLDLR Expert Review Green;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 False 3 100;0;0 1.344 True ENSG00000147852 ENSG00000147852 HGNC:12698 VPS13D gene VPS13D Expert Review Green;Research Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 4, OMIM:607317 29604224 False 3 100;0;0 1.344 False ENSG00000048707 ENSG00000048707 HGNC:23595 VRK1 gene VRK1 Expert List;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 1A (#607596) False 3 100;0;0 1.344 True ENSG00000100749 ENSG00000100749 HGNC:12718 WDR73 gene WDR73 Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature;Galloway-Mowat syndrome 1, 251300 False 3 0;0;0 1.344 True ENSG00000177082 ENSG00000177082 HGNC:25928 WDR81 gene WDR81 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 False 3 100;0;0 1.344 True ENSG00000167716 ENSG00000167716 HGNC:26600 WFS1 gene WFS1 Expert Review Green;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome 1, 222300 False 3 100;0;0 1.344 True ENSG00000109501 ENSG00000109501 HGNC:12762 WWOX gene WWOX Expert Review;Expert Review Green Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Autosomal recessive spinocerebellar ataxia 12, 614322 False 3 100;0;0 1.344 True ENSG00000186153 ENSG00000186153 HGNC:12799 XRCC1 gene XRCC1 Expert Review Green;Literature Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 26, OMIM:617633 28002403;29472272 False 3 100;0;0 1.344 False ENSG00000073050 ENSG00000073050 HGNC:12828 CHP1 gene CHP1 Expert Review Amber;Literature Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 9, autosomal recessive, OMIM:618438 23904602;29379881;32787936 False 2 0;100;0 1.344 False ENSG00000187446 ENSG00000187446 HGNC:17433 COG5 gene COG5 Expert Review Amber;Literature Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Congenital disorder of glycosylation, type IIi 613612" 19690088;28960046 False 2 0;0;0 1.344 False ENSG00000164597 ENSG00000164597 HGNC:14857 EEF2 gene EEF2 Expert Review Amber;Literature Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 26 OMIM:609306 23001565;33355653 False 2 0;100;0 1.344 False ENSG00000167658 ENSG00000167658 HGNC:3214 MVK gene MVK Expert Review Amber;Literature Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mevalonic aciduria, OMIM:610377 26503795;24896178 False 2 0;100;0 1.344 False ENSG00000110921 ENSG00000110921 HGNC:7530 POLR3K gene POLR3K Expert Review Amber;Literature Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 21, OMIM:619310 30584594;33659930 False 2 0;100;0 1.344 False ENSG00000161980 ENSG00000161980 HGNC:14121 SAR1B gene SAR1B Expert Review;Expert Review Amber Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal " Chylomicron retention disease 246700" False 2 100;0;0 1.344 False ENSG00000152700 ENSG00000152700 HGNC:10535 VAMP1 gene VAMP1 Expert Review Amber;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spastic ataxia 1, autosomal dominant, 108600 False 2 50;50;0 1.344 True ENSG00000139190 ENSG00000139190 HGNC:12642 AARS gene AARS Expert Review Red;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287;Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212 False 1 0;0;0 1.344 True ENSG00000090861 ENSG00000090861 HGNC:20 ALAS2 gene ALAS2 Expert Review Red;Illumina TruGenome Clinical Sequencing Services Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;0 1.344 True ENSG00000158578 ENSG00000158578 HGNC:397 ATN1 gene ATN1 Eligibility statement prior genetic testing;Expert Review Red Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Other Dentatorubral-pallidoluysian atrophy, OMIM:125370 False 1 0;100;0 1.344 True Other - please provide details in the comments ENSG00000111676 ENSG00000111676 HGNC:3033 ATP2B3 gene ATP2B3 Expert Review Red;Radboud University Medical Center, Nijmegen Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Spinocerebellar ataxia, X-linked 1 False 1 0;0;100 1.344 True ENSG00000067842 ENSG00000067842 HGNC:816 ATP8A2 gene ATP8A2 Expert Review Red;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal PMID: 22892528 False 1 0;0;100 1.344 True ENSG00000132932 ENSG00000132932 HGNC:13533 ATXN1 gene ATXN1 Eligibility statement prior genetic testing;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Other Spinocerebellar ataxia 1, OMIM:164400 False 1 0;100;0 1.344 True Other - please provide details in the comments ENSG00000124788 ENSG00000124788 HGNC:10548 ATXN10 gene ATXN10 Expert Review Red;Radboud University Medical Center, Nijmegen Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Other Spinocerebellar ataxia 10, OMIM:603516 False 1 0;100;0 1.344 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000130638 ENSG00000130638 HGNC:10549 ATXN2 gene ATXN2 Eligibility statement prior genetic testing;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Other Spinocerebellar ataxia 2, OMIM:183090 False 1 0;100;0 1.344 True Other - please provide details in the comments ENSG00000204842 ENSG00000204842 HGNC:10555 ATXN3 gene ATXN3 Eligibility statement prior genetic testing;Expert Review Red Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Other Machado-Joseph disease, OMIM:109150 False 1 0;100;0 1.344 True Other - please provide details in the comments ENSG00000066427 ENSG00000066427 HGNC:7106 ATXN7 gene ATXN7 Eligibility statement prior genetic testing;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Other Spinocerebellar ataxia 7, OMIM:164500 False 1 0;100;0 1.344 True Other - please provide details in the comments ENSG00000163635 ENSG00000163635 HGNC:10560 ATXN8 gene ATXN8 Literature Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spinocerebellar ataxia 8 608768" 10192387 False 1 0;0;100 1.344 False Other - please provide details in the comments - - HGNC:32925 BEAN1 gene BEAN1 Literature Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 31 117210 19878914 False 1 0;0;100 1.344 False ENSG00000166546 ENSG00000166546 HGNC:24160 CACNB4 gene CACNB4 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia, type 5 ;Episodic Ataxia PMC1378014 False 1 0;0;100 1.344 True ENSG00000182389 ENSG00000182389 HGNC:1404 CCDC88C gene CCDC88C Expert Review;Expert Review Red Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown autosomal dominant spinocerebellar ataxia PMID: 25062847 False 1 0;0;100 1.344 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments ENSG00000015133 ENSG00000015133 HGNC:19967 DAB1 gene DAB1 Literature Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spinocerebellar ataxia 37 615945" 28686858 False 1 0;0;100 1.344 False Other - please provide details in the comments ENSG00000173406 ENSG00000173406 HGNC:2661 DMXL2 gene DMXL2 Expert Review Red;Other Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Polyendocrine-polyneuropathy syndrome, OMIM:616113 25248098 False 1 0;0;100 1.344 False ENSG00000104093 ENSG00000104093 HGNC:2938 DYNC1H1 gene DYNC1H1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot Marie Tooth, SMA, Intellectual disability False 1 0;0;100 1.344 True ENSG00000197102 ENSG00000197102 HGNC:2961 ELOVL5 gene ELOVL5 Expert Review;Expert Review Red Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 36 (#615957) False 1 100;0;0 1.344 True Other - please provide details in the comments ENSG00000012660 ENSG00000012660 HGNC:21308 FMR1 gene FMR1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders 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 1 0;50;50 1.344 True ENSG00000102081 ENSG00000102081 HGNC:3775 MTPAP gene MTPAP Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia, spastic, 4, False 1 100;0;0 1.344 True ENSG00000107951 ENSG00000107951 HGNC:25532 NAGLU gene NAGLU Expert review;Expert Review Red Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Sensory neuropathy turning into a mild sensory ataxia (AD). Also Sanfilippo syndrome B (AR) (OMIM #252920) PMID: 25818867 False 1 0;0;100 1.344 True Other - please provide details in the comments ENSG00000108784 ENSG00000108784 HGNC:7632 NOP56 gene NOP56 Expert Review Red;Radboud University Medical Center, Nijmegen Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Other - please specifiy in evaluation comments Spinocerebellar ataxia 36, OMIM:614153 False 1 0;100;0 1.344 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000101361 ENSG00000101361 HGNC:15911 PAX2 gene PAX2 Expert Review Red;Radboud University Medical Center, Nijmegen Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Ataxia,spastic2,autosomalrecessive(2) False 1 0;0;0 1.344 True ENSG00000075891 ENSG00000075891 HGNC:8616 PCLO gene PCLO Expert Review;Expert Review Red Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree. PMID: 25832664 False 1 100;0;0 1.344 True ENSG00000186472 ENSG00000186472 HGNC:13406 PIK3R5 gene PIK3R5 Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia-oculomotor apraxia 3 False 1 0;0;100 1.344 True ENSG00000141506 ENSG00000141506 HGNC:30035 PPP2R2B gene PPP2R2B Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Other Spinocerebellar ataxia 12, OMIM:604326 False 1 0;100;0 1.344 True Other - please provide details in the comments ENSG00000156475 ENSG00000156475 HGNC:9305 PRICKLE1 gene PRICKLE1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1B, OMIM:612437 False 1 0;0;100 1.344 True ENSG00000139174 ENSG00000139174 HGNC:17019 RELN gene RELN Expert Review Red;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 1.344 True ENSG00000189056 ENSG00000189056 HGNC:9957 RUBCN gene RUBCN Expert Review Red;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705 20826435;23728897;32450808 False 1 0;0;100 1.344 True ENSG00000145016 ENSG00000145016 HGNC:28991 SYT14 gene SYT14 Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellarataxia,autosomalrecessive11,614229 False 1 0;0;100 1.344 True ENSG00000143469 ENSG00000143469 HGNC:23143 TBP gene TBP Eligibility statement prior genetic testing;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders Other Spinocerebellar ataxia 17, OMIM:607136 False 1 0;100;0 1.344 True Other - please provide details in the comments ENSG00000112592 ENSG00000112592 HGNC:11588 TDP1 gene TDP1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive with axonal neuropathy False 1 0;0;100 1.344 True ENSG00000042088 ENSG00000042088 HGNC:18884 TSEN34 gene TSEN34 Expert Review;Expert Review Red Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 2C (612390) False 1 0;0;100 1.344 True ENSG00000170892 ENSG00000170892 HGNC:15506 UBR4 gene UBR4 Expert Review;Expert Review Red Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia PMID: 23982692 False 1 0;0;0 1.344 True ENSG00000127481 ENSG00000127481 HGNC:30313 VPS53 gene VPS53 Expert Review;Expert Review Red Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 2E (#615851) 24577744 False 1 100;0;0 1.344 False ENSG00000141252 ENSG00000141252 HGNC:25608 ZFYVE26 gene ZFYVE26 Expert Review;Expert Review Red Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Autosomal recessive spastic paraplegia 15 (#270700) complex form of the disease including ataxia. Pyle et al. (2015), Brain, 138, pp.276-283. Implicated in undiagnosed ataxia. PMID:25497598;25842392 False 1 0;0;100 1.344 True ENSG00000072121 ENSG00000072121 HGNC:20761 ZNF592 gene ZNF592 Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 5 False 1 0;0;0 1.344 True ENSG00000166716 ENSG00000166716 HGNC:28986 ATN1_CAG str ATN1 Expert Review Green;NHS GMS;Expert list Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dentatorubral-pallidoluysian atrophy, OMIM:125370 20301664;8136840;20301664;8136840;8136826;7614090 False 3 100;0;0 1.344 False ENSG00000111676 ENSG00000111676 HGNC:3033 12 7045880 7045936 6936717 6936772 CAG 36 48 ATXN10_ATTCT str ATXN10 Expert Review Green;NHS GMS;Expert list Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 10, OMIM:603516 12164725 False 3 100;0;0 1.344 True ENSG00000130638 ENSG00000130638 HGNC:10549 22 46191235 46191304 45795355 45795424 ATTCT 33 800 ATXN1_CAG str ATXN1 Expert Review Green;NHS GMS;Expert list Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 1, OMIM:164400 False 3 100;0;0 1.344 True ENSG00000124788 ENSG00000124788 HGNC:10548 6 16327867 16327953 16327636 16327722 CAG 36 45 ATXN2_CAG str ATXN2 Expert Review Green;NHS GMS;Expert list Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 2, OMIM:183090 False 3 100;0;0 1.344 True ENSG00000204842 ENSG00000204842 HGNC:10555 12 112036755 112036823 111598951 111599019 CAG 32 35 ATXN3_CAG str ATXN3 Expert Review Green;NHS GMS;Expert list Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Machado-Joseph disease, OMIM:109150 False 3 100;0;0 1.344 True ENSG00000066427 ENSG00000066427 HGNC:7106 14 92537355 92537396 92071011 92071052 CAG 45 60 ATXN7_CAG str ATXN7 Expert Review Green;NHS GMS;Expert list Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 7, OMIM:164500 False 3 100;0;0 1.344 True ENSG00000163635 ENSG00000163635 HGNC:10560 3 63898362 63898391 63912686 63912715 CAG 28 37 CACNA1A_CAG str CACNA1A Expert Review Green;NHS GMS;Expert list Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 6, OMIM:183086 False 3 100;0;0 1.344 False ENSG00000141837 ENSG00000141837 HGNC:1388 19 13318673 13318711 13207859 13207897 CAG 19 20 CSTB_CCCCGCCCCGCG str CSTB Expert Review Green;NHS GMS;Expert Review Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), OMIM:254800 False 3 0;0;0 1.344 True ENSG00000160213 ENSG00000160213 HGNC:2482 21 45196328 45196351 43776429 43776470 CCCCGCCCCGCG 18 30 FXN_GAA str FXN Expert Review Green;NHS GMS;Expert list Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia OMIM:229300;Friedreich ataxia with retained reflexes OMIM:229300;Friedreich ataxia 1 MONDO:0100340 False 3 100;0;0 1.344 True ENSG00000165060 ENSG00000165060 HGNC:3951 9 71652203 71652220 69037287 69037304 GAA 44 66 HTT_CAG str HTT Expert Review Green;NHS GMS;Expert Review Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Huntington disease, OMIM:143100 False 3 0;0;0 1.344 True ENSG00000197386 ENSG00000197386 HGNC:4851 4 3076604 3076666 3074877 3074939 CAG 36 40 NOP56_GGCCTG str NOP56 Expert Review Green;NHS GMS;Expert list Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 36, OMIM:614153 False 3 100;0;0 1.344 True ENSG00000101361 ENSG00000101361 HGNC:15911 20 2633380 2633403 2652734 2652757 GGCCTG 15 650 PPP2R2B_CAG str PPP2R2B Expert Review Green;NHS GMS;Expert list Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 12, OMIM:604326 20301381 False 3 100;0;0 1.344 False ENSG00000156475 ENSG00000156475 HGNC:9305 5 146258292 146258321 146878729 146878758 CAG 33 43 TBP_CAG str TBP Expert Review Green;NHS GMS;Expert list Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 17, OMIM:607136 20301611;34906452;35493319 False 3 100;0;0 1.344 True ENSG00000112592 ENSG00000112592 HGNC:11588 6 170870996 170871109 170561908 170562021 CAG 41 49 ISCA-37478-Gain region Expert Review Green;ClinGen Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636;chromosome 15q11-q13 duplication syndrome;autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems 18374305;16840569;9106540 False 3 0;0;0 1.344 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;ClinGen Hereditary ataxia Motor Disorders of the CNS Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown microcephaly;Developmental delay, muscle weakness;Mental retardation;Angelman syndrome;176270;Prader-Willi syndrome;105830 22045295;7611294 False 3 0;0;0 1.344 False 15 23465365 28134728 3 60 cnv_loss 15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss