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 ALAS2 gene ALAS2 Expert Review Red;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) False 1 0;0;0 8.30 False ENSG00000158578 ENSG00000158578 HGNC:397 ATN1 gene ATN1 Brain channelopathy v1.46;Expert Review Red;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology Other Dentatorubral-pallidoluysian atrophy, OMIM:125370 False 1 50;0;50 8.30 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000111676 ENSG00000111676 HGNC:3033 ATXN1 gene ATXN1 Expert Review Red;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology Other Spinocerebellar ataxia 1, OMIM:164400 False 1 50;0;50 8.30 False Other - please provide details in the comments ENSG00000124788 ENSG00000124788 HGNC:10548 ATXN10 gene ATXN10 Expert Review Red;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology Other Spinocerebellar ataxia 10, OMIM:603516 False 1 50;0;50 8.30 False 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 Expert Review Red;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology Other Spinocerebellar ataxia 2, OMIM:183090 False 1 50;0;50 8.30 False Other - please provide details in the comments ENSG00000204842 ENSG00000204842 HGNC:10555 ATXN3 gene ATXN3 Expert Review Red;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology Other Machado-Joseph disease, OMIM:109150 False 1 50;0;50 8.30 False Other - please provide details in the comments ENSG00000066427 ENSG00000066427 HGNC:7106 ATXN7 gene ATXN7 Expert Review Red;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology Other Spinocerebellar ataxia 7, OMIM:164500 False 1 50;0;50 8.30 False Other - please provide details in the comments ENSG00000163635 ENSG00000163635 HGNC:10560 ATXN8 gene ATXN8 Expert Review Red;Hereditary ataxia v1.148;London North GLH;NHS GMS Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 8 608768 10192387 False 1 50;50;0 8.30 False Other - please provide details in the comments - - HGNC:32925 B4GAT1 gene B4GAT1 Expert Review Red;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy type A13, 615287 23359570;23877401;23217742 False 1 33;33;33 8.30 False ENSG00000174684 ENSG00000174684 HGNC:15685 BEAN1 gene BEAN1 Expert Review Red;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 31, 117210;Spinocerebellar ataxia 31 117210 19878914 False 1 67;33;0 8.30 False ENSG00000166546 ENSG00000166546 HGNC:24160 CACNB4 gene CACNB4 Brain channelopathy v1.46;Expert Review Red;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 Episodic ataxia type 5, 613855;Episodic ataxia, type 5;EPILEPSY, IDIOPATHIC GENERALIZED, SUSCEPTIBILITY TO, 9;Episodic Ataxia 10762541;PMC1378014 False 1 33;33;33 8.30 False ENSG00000182389 ENSG00000182389 HGNC:1404 CCDC88C gene CCDC88C Expert Review Red;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 40, 616053;autosomal dominant spinocerebellar ataxia 25062847 False 1 0;0;100 8.30 False 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 CDK5 gene CDK5 NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology Lissencephaly 7 with cerebellar hypoplasia, OMIM:616342 False 1 0;0;100 8.30 False ENSG00000164885 ENSG00000164885 HGNC:1774 DAB1 gene DAB1 Expert Review Red;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 37, OMIM: 615945 28686858 False 1 67;33;0 8.30 False Other - please provide details in the comments ENSG00000173406 ENSG00000173406 HGNC:2661 DCC gene DCC NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mirror movements 1 and/or agenesis of the corpus callosum False 1 0;0;100 8.30 False ENSG00000187323 ENSG00000187323 HGNC:2701 DMXL2 gene DMXL2 Expert Review Red;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Sensorineural Hearing Loss;OMIM:612186;Polyendocrine-polyneuropathy syndrome, 616113;ORPHA90636 22875945;27657680;25248098 False 1 0;0;100 8.30 False ENSG00000104093 ENSG00000104093 HGNC:2938 EXOSC8 gene EXOSC8 Expert Review Red;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 1C, OMIM:616081 24989451;38017281;34210538 False 1 33;33;33 8.30 False ENSG00000120699 ENSG00000120699 HGNC:17035 FMR1 gene FMR1 Expert Review Red;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, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fragile X tremor/ataxia syndrome, OMIM:300623 False 1 33;67;0 8.30 False ENSG00000102081 ENSG00000102081 HGNC:3775 FRMD4A gene FRMD4A NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Agenesis of corpus callosum with facial anomalies and cerebellar ataxia False 1 0;0;100 8.30 False ENSG00000151474 ENSG00000151474 HGNC:25491 GLI3 gene GLI3 NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Greig syndrome, 175700;Pallister-Hall syndrome, 146510;Polydactyly type IV, 174700;Polydactyly types A1/B, 174200 False 1 0;0;100 8.30 False ENSG00000106571 ENSG00000106571 HGNC:4319 HTT gene HTT Brain channelopathy v1.46;Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology Other Huntington disease, OMIM:143100 False 1 33;67;0 8.30 False Other - please provide details in the comments ENSG00000197386 ENSG00000197386 HGNC:4851 KCNK18 gene KCNK18 Brain channelopathy v1.46;Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Susceptibility to migraine with/without arua 13, 613656;MIGRAINE, WITH OR WITHOUT AURA, SUSCEPTIBILITY TO, 13 20871611;22355750 False 1 0;0;100 8.30 False ENSG00000186795 ENSG00000186795 HGNC:19439 MAPK8IP3 gene MAPK8IP3 Expert Review Red;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443 30612693;30945334 False 1 50;50;0 8.30 False ENSG00000138834 ENSG00000138834 HGNC:6884 MME gene MME 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 43, OMIM:617018 27583304 False 1 0;0;100 8.30 False ENSG00000196549 ENSG00000196549 HGNC:7154 MVK gene MVK Expert Review Red;Hereditary ataxia v1.148 Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Mevalonic aciduria, OMIM:610377 24896178;26503795 False 1 0;100;0 8.30 False ENSG00000110921 ENSG00000110921 HGNC:7530 NAGLU gene NAGLU Expert Review Red;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 CMT axon type 2V, 616491;Sanfilippo syndrome B (AR) (OMIM #252920);Sensory neuropathy turning into a mild sensory ataxia (AD) 25818867 False 1 0;33;67 8.30 False Other - please provide details in the comments ENSG00000108784 ENSG00000108784 HGNC:7632 NOP56 gene NOP56 Expert Review Red;Hereditary ataxia v1.148;London North GLH;NHS GMS Hereditary ataxia with onset in adulthood Neurology Other - please specifiy in evaluation comments Spinocerebellar ataxia 36, OMIM:614153 False 1 50;0;50 8.30 False 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;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 Ataxia,spastic2,autosomal recessive;Papillorenal syndrome, AR False 1 0;33;67 8.30 False ENSG00000075891 ENSG00000075891 HGNC:8616 PAX6 gene PAX6 Expert Review Red;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Aniridia, 106210;Aniridia, Cerebellar Ataxia, And Mental Retardation False 1 0;50;50 8.30 False ENSG00000007372 ENSG00000007372 HGNC:8620 PCLO gene PCLO Expert Review Red;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree.;Pontocerebellar hypoplasia type 3, 608027 25832664 False 1 0;0;100 8.30 False ENSG00000186472 ENSG00000186472 HGNC:13406 PDYN gene PDYN Expert Review Red;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 23;Spinocerebellar ataxia 23, 610245 False 1 33;67;0 8.30 False ENSG00000101327 ENSG00000101327 HGNC:8820 PI4KA gene PI4KA NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, perisylvian with cerebellar hypoplasia and arthrogryposis, 616531 False 1 0;0;100 8.30 False ENSG00000241973 ENSG00000241973 HGNC:8983 PIK3R5 gene PIK3R5 Expert Review Red;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-oculomotor apraxia 3, 615217;Ataxia-oculomotor apraxia 3 False 1 0;0;100 8.30 False ENSG00000141506 ENSG00000141506 HGNC:30035 POLG2 gene POLG2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, 610131 27592148;30157269;31286721 False 1 0;67;33 8.30 False ENSG00000256525 ENSG00000256525 HGNC:9180 PPP2R2B gene PPP2R2B Expert Review Red;Hereditary ataxia v1.148 Hereditary ataxia with onset in adulthood Neurology Other Spinocerebellar ataxia 12, OMIM:604326 False 1 0;0;100 8.30 False Other - please provide details in the comments ENSG00000156475 ENSG00000156475 HGNC:9305 PRICKLE1 gene PRICKLE1 Expert Review Red;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 1B, OMIM:612437 20301774 False 1 33;33;33 8.30 False ENSG00000139174 ENSG00000139174 HGNC:17019 RELN gene RELN Expert Review Red;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Lissencephaly 2, 257320 False 1 0;100;0 8.30 False ENSG00000189056 ENSG00000189056 HGNC:9957 RFC1 gene RFC1 Expert Review;Expert Review Red Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, OMIM:614575;cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome, MONDO:0044720 30926972;31824583;32851396;32582864;33103729;33969391;35883251;36250766;36289003;36524104;36478048 False 1 50;17;33 8.30 False Other ENSG00000035928 ENSG00000035928 HGNC:9969 RUBCN gene RUBCN Expert Review Red;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 15, OMIM:615705 20826435 False 1 0;50;50 8.30 False ENSG00000145016 ENSG00000145016 HGNC:28991 SCN9A gene SCN9A Brain channelopathy v1.46;Expert Review Red;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Paroxysmal extreme pain disorder, 167400;Congenital Indifference to Pain;Paroxysmal Extreme Pain Disorder;Hereditary Sensory Neuropathy;Febrile seizures, familial, 3B, 613863;Dysosteosclerosis;Epilepsy, generalized, with febrile seizures plus, type 7, 613863;Insensitivity to pain, channelopathy-associated, 243000;Erythermalgia, primary, 133020;Erythermalgia, Primary False 1 0;50;50 8.30 False ENSG00000169432 ENSG00000169432 HGNC:10597 SLC25A32 gene SLC25A32 NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Riboflavin-responsive exericise intolerance, 616839 False 1 0;50;50 8.30 False ENSG00000164933 ENSG00000164933 HGNC:29683 SLC6A5 gene SLC6A5 Brain channelopathy v1.46;Expert Review Red;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperekplexia 3, 614618 16751771 False 1 0;50;50 8.30 False ENSG00000165970 ENSG00000165970 HGNC:11051 SMPD4 gene SMPD4 London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology False 1 0;33;67 8.30 False ENSG00000136699 ENSG00000136699 HGNC:32949 SPR gene SPR Brain channelopathy v1.46;Expert Review Red;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, OMIM:612716 26131547 False 1 33;33;33 8.30 False ENSG00000116096 ENSG00000116096 HGNC:11257 SYT14 gene SYT14 Expert Review Red;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellarataxia,autosomalrecessive11,614229;Autosomal recessive spinocerebellar ataxia 11, 614229 False 1 0;50;50 8.30 False ENSG00000143469 ENSG00000143469 HGNC:23143 TBP gene TBP Expert Review Red;Hereditary ataxia v1.148 Hereditary ataxia with onset in adulthood Neurology Other Spinocerebellar ataxia 17, OMIM:607136 False 1 0;0;100 8.30 False Other - please provide details in the comments ENSG00000112592 ENSG00000112592 HGNC:11588 TERT gene TERT Expert Review Red;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 17785587;34890115;18042801 False 1 33;33;33 8.30 False ENSG00000164362 ENSG00000164362 HGNC:11730 TGM6 gene TGM6 Expert Review Red;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 35, 613908;Spinocerebellar ataxia 35 False 1 33;67;0 8.30 False ENSG00000166948 ENSG00000166948 HGNC:16255 THG1L gene THG1L NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia with developmental delay False 1 0;50;50 8.30 False ENSG00000113272 ENSG00000113272 HGNC:26053 TINF2 gene TINF2 Expert Review Red;London North GLH;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal dominant dyskeratosis congenita 3, 613990;Revesz syndrome, 268130 False 1 33;33;33 8.30 False ENSG00000092330 ENSG00000092330 HGNC:11824 TSEN15 gene TSEN15 Expert Review Red;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia, type 2F, OMIM:617026 27392077 False 1 33;33;33 8.30 False ENSG00000198860 ENSG00000198860 HGNC:16791 TSEN34 gene TSEN34 Expert Review Red;Hereditary ataxia v1.148;NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 2C, 612390;Pontocerebellar hypoplasia 2C (612390) False 1 0;50;50 8.30 False ENSG00000170892 ENSG00000170892 HGNC:15506 TTC19 gene TTC19 Expert Review Red;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 Mitochondrial complex III deficiency nuclear type II, 615157;Mitochondrial complex III deficiency, nuclear type 2, 615157 False 1 33;33;33 8.30 False ENSG00000011295 ENSG00000011295 HGNC:26006 TUBA8 gene TUBA8 NHS GMS;Wessex and West Midlands GLH Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Complex cortical dysplasia with other brain malformations 8, 613180 False 1 0;50;50 8.30 False ENSG00000183785 ENSG00000183785 HGNC:12410 TUBB gene TUBB 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 malformations 6, 615771 False 1 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 ENSG00000196230 ENSG00000196230 HGNC:20778 TUBB2A gene TUBB2A 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 5, OMIM:615763;Complex cortical dysplasia with other brain malformations 5, MONDO:0014337 False 1 0;100;0 8.30 False ENSG00000137267 ENSG00000137267 HGNC:12412 UBR4 gene UBR4 Expert Review Red;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;Episodic ataxia type 8, 616055 23982692 False 1 0;50;50 8.30 False ENSG00000127481 ENSG00000127481 HGNC:30313 ZNF592 gene ZNF592 Expert Review Red;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;Spinocerebellar ataxia, autosomal recessive 5 False 1 0;50;50 8.30 False ENSG00000166716 ENSG00000166716 HGNC:28986 ATXN8OS_CTG str ATXN8OS Literature Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 8, OMIM:608768;spinocerebellar ataxia type 8, MONDO:0012116 16804541;10192387 False 1 100;0;0 8.30 False ENSG00000230223 ENSG00000230223 HGNC:10561 13 70139383 70139428 CTG 50 71 BEAN1_TGGAA str BEAN1 Literature Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 31, OMIM:117210;spinocerebellar ataxia type 31, MONDO:0007296 19878914 False 1 100;0;0 8.30 False ENSG00000166546 ENSG00000166546 HGNC:24160 16 66490398 66490453 TGGAA 0 110 DAB1_ATTTC str DAB1 Literature Hereditary ataxia with onset in adulthood Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 37, OMIM: 615945 29939198;28686858 False 1 100;0;0 8.30 False ENSG00000173406 ENSG00000173406 HGNC:2661 1 57367043 57367118 ATTTC 0 31 RFC1_AAGGG str RFC1 Literature Hereditary ataxia with onset in adulthood Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome, OMIM: 614575 30926972;35883251;36250766;36289003;36524104;36478048;32040566;33103729;35355059 False 1 100;0;0 8.30 False ENSG00000035928 ENSG00000035928 HGNC:9969 4 39348424 39348479 AAGGG 0 400 ISCA-37468-Loss region Expert Review Red;NHS GMS 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) hypotonia;episodes of sudden loss of muscle tone;short stature;severe intellectual disability;autistic features;eleveated serotonin levels;exiting behavior;lip-smacking;stereotypical hand movements 23414621;20485326;22365943 False 1 0;0;100 8.30 False X 43654906 43882474 3 60 cnv_loss Xp11.23 region (includes MAOA and MAOB) Loss