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 AARS gene AARS Expert Review Amber;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 Charcot-Marie-Tooth disease, axonal, type 2N, OMIM:613287;Charcot-Marie-Tooth disease axonal type 2N, MONDO:0013212 False 2 0;67;33 8.30 False ENSG00000090861 ENSG00000090861 HGNC:20 ABCB7 gene ABCB7 Expert Review Amber;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females Anemia, sideroblastic, with ataxia OMIM:301310;X-linked sideroblastic anemia with ataxia MONDO:0010524 False 2 33;33;33 8.30 False ENSG00000131269 ENSG00000131269 HGNC:48 ADGRG1 gene ADGRG1 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, Frontoparietal OMIM:606854;bilateral frontoparietal polymicrogyria MONDO:0011738;Polymicrogyria, perisylvian type OMIM:615752;polymicrogyria, bilateral perisylvian, autosomal recessive MONDO:0014333 False 2 33;33;33 8.30 False ENSG00000205336 ENSG00000205336 HGNC:4512 ADPRHL2 gene ADPRHL2 Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures OMIM:618170;neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures MONDO:0100095 30100084;30401461 False 2 40;40;20 8.30 False ENSG00000116863 ENSG00000116863 HGNC:21304 AMPD2 gene AMPD2 Expert Review Amber;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hyoplasia 9 OMIM:615809;pontocerebellar hypoplasia type 9 MONDO:0014351 24482476 False 2 33;33;33 8.30 False ENSG00000116337 ENSG00000116337 HGNC:469 AP1S2 gene AP1S2 Expert Review Amber;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) Pettigrew syndrome, OMIM:304340 False 2 33;33;33 8.30 False ENSG00000182287 ENSG00000182287 HGNC:560 ATP2B3 gene ATP2B3 Expert Review Amber;Hereditary ataxia v1.148;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology X-LINKED: hemizygous mutation in males, biallelic mutations in females ?Spinocerebellar ataxia, X-linked 1, OMIM:302500 25953895;28807751;36207321 False 2 0;100;0 8.30 False ENSG00000067842 ENSG00000067842 HGNC:816 ATP8A2 gene ATP8A2 Expert Review Amber;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 4 OMIM:615268;cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 MONDO:0014104 22892528;29531481;30012219;31612321;27679995;20683487 False 2 50;25;25 8.30 False ENSG00000132932 ENSG00000132932 HGNC:13533 CHMP1A gene CHMP1A Expert Review Amber;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 8 OMIM:614961;pontocerebellar hypoplasia type 8 MONDO:0013990 23023333 False 2 25;25;50 8.30 False ENSG00000131165 ENSG00000131165 HGNC:8740 CHP1 gene CHP1 Expert Review Amber;Literature Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 9, autosomal recessive, OMIM:618438 23904602;29379881;32787936 False 2 0;100;0 8.30 False ENSG00000187446 ENSG00000187446 HGNC:17433 CLP1 gene CLP1 Expert Review Amber;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 10 OMIM:615803 24766809;29307788 False 2 25;25;50 8.30 False ENSG00000172409 ENSG00000172409 HGNC:16999 DYNC1H1 gene DYNC1H1 Expert Review Amber;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 Autosomal dominant MR 13, 614563;Charcot Marie Tooth, SMA, Intellectual disability False 2 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 ENSG00000197102 ENSG00000197102 HGNC:2961 EBF3 gene EBF3 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypotonia, ataxia, and delayed development syndrome OMIM:617330;hypotonia, ataxia, and delayed development syndrome MONDO:0015021 28017370;28017372;28017373 False 2 25;50;25 8.30 False ENSG00000108001 ENSG00000108001 HGNC:19087 EEF2 gene EEF2 Expert Review Amber;Literature Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 26 OMIM:609306 23001565;33355653 False 2 0;100;0 8.30 False ENSG00000167658 ENSG00000167658 HGNC:3214 ELOVL5 gene ELOVL5 Expert Review Amber;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 38, 615957;Spinocerebellar ataxia 36 615957 False 2 33;33;33 8.30 False Other - please provide details in the comments ENSG00000012660 ENSG00000012660 HGNC:21308 GALC gene GALC Expert Review;Expert Review Amber Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Krabbe disease, OMIM:245200 26915362, 20886637 False 2 100;0;0 8.30 False ENSG00000054983 ENSG00000054983 HGNC:4115 JAM2 gene JAM2 Expert Review Amber;Literature Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Basal ganglia calcification, idiopathic, 8, autosomal recessive, OMIM:618824;basal ganglia calcification, idiopathic, 8, autosomal recessive, MONDO:0032938 31851307;32142645 False 2 100;0;0 8.30 False ENSG00000154721 ENSG00000154721 HGNC:14686 KCNQ3 gene KCNQ3 Brain channelopathy v1.46;Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Seizures, benign neonatal, type 2, 121201;Benign neonatal seizures 2, 121201 False 2 0;100;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 ENSG00000184156 ENSG00000184156 HGNC:6297 LNPK gene LNPK Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with epilepsy and hypoplasia or the corpus callosum False 2 0;100;0 8.30 False ENSG00000144320 ENSG00000144320 HGNC:21610 MORC2 gene MORC2 Expert Review Amber;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 2Z, OMIM:616688 False 2 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 ENSG00000133422 ENSG00000133422 HGNC:23573 MTPAP gene MTPAP Expert Review Amber;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia, spastic, 4,;Autosomal recessive spastic ataxia 4, 613672 False 2 0;100;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 ENSG00000107951 ENSG00000107951 HGNC:25532 PEX2 gene PEX2 Expert Review;Expert Review Amber Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Peroxisome biogenesis disorder 5B, 614867 23430938;7931872;21392394 False 2 100;0;0 8.30 False ENSG00000164751 ENSG00000164751 HGNC:9717 PNPT1 gene PNPT1 Expert Review Amber;NHS GMS Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 25, OMIM:608703 35411967;39924761 False 2 100;0;0 8.30 False ENSG00000138035 ENSG00000138035 HGNC:23166 PRPS1 gene PRPS1 Expert Review Amber;Literature 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) cerebellar ataxia, MONDO:0000437 33898739;28967191;25491489 False 2 0;100;0 8.30 False ENSG00000147224 ENSG00000147224 HGNC:9462 RORA gene RORA Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with or without epilepsy or cerebellar ataxia OMIM:618060;intellectual developmental disorder with or without epilepsy or cerebellar ataxia MONDO:0060745 29656859 False 2 50;25;25 8.30 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000069667 ENSG00000069667 HGNC:10258 SAR1B gene SAR1B Expert Review Amber;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 Chylomicron retention disease, 246700;Chylomicron retention disease 246700 False 2 33;33;33 8.30 False ENSG00000152700 ENSG00000152700 HGNC:10535 SCYL1 gene SCYL1 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 21 OMIM:616719;acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome MONDO:0014744 False 2 33;33;33 8.30 False ENSG00000142186 ENSG00000142186 HGNC:14372 SLC9A1 gene SLC9A1 Expert Review Amber;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Lichtenstein-Knorr syndrome OMIM:616291;Lichtenstein-Knorr syndrome MONDO:0014572 25205112;30018422;25760855 False 2 25;50;25 8.30 False ENSG00000090020 ENSG00000090020 HGNC:11071 TBC1D23 gene TBC1D23 Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 11 OMIM:617695;pontocerebellar hypoplasia, type 11 MONDO:0054669 False 2 33;33;33 8.30 False ENSG00000036054 ENSG00000036054 HGNC:25622 TMEM106B gene TMEM106B Expert Review Amber;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Leukodystrophy, hypomyelinating, 16, OMIM:617964;Leukodystrophy, hypomyelinating, 16, MONDO:0054791 29186371;29444210;30643851;32595021 False 2 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 ENSG00000106460 ENSG00000106460 HGNC:22407 VAMP1 gene VAMP1 Expert Review Amber;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 spastic ataxia 1, 108600;Spastic ataxia 1, autosomal dominant, 108600 False 2 0;67;33 8.30 False ENSG00000139190 ENSG00000139190 HGNC:12642 VPS41 gene VPS41 Expert Review Amber;NHS GMS Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Generalised Neurodevelopmental disorder;Ataxia;Dystonia 32808683;33764426;33851776 False 2 50;50;0 8.30 False ENSG00000006715 ENSG00000006715 HGNC:12713 VRK1 gene VRK1 Expert Review Amber;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 1A, 607596 False 2 0;100;0 8.30 False ENSG00000100749 ENSG00000100749 HGNC:12718 XRCC1 gene XRCC1 Expert Review Amber;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 26, OMIM:617633 28002403;29472272 False 2 0;67;33 8.30 False ENSG00000073050 ENSG00000073050 HGNC:12828 FGF14_TTC str FGF14 Expert Review Amber Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 27B, late-onset, OMIM: 620174 36516086;36493768;37267898 False 2 0;100;0 8.30 False ENSG00000102466 ENSG00000102466 HGNC:3671 13 102161576 102161726 TTC 249 300