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 ACBD5 gene ACBD5 Expert list;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services Ataxia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy;syndromic cleft palate;ataxia;retinal dystrophy Ataxia;HP:0001251 27799409;23105016 False 2 50;50;0 1.203 True ENSG00000107897 ENSG00000107897 HGNC:23338 ATG5 gene ATG5 Expert Review Amber;Royal Melbourne Hospital Ataxia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Spinocerebellar ataxia, autosomal recessive 25 Ataxia;HP:0001251 16625204;26812546 False 2 0;100;0 1.203 True ENSG00000057663 ENSG00000057663 HGNC:589 C17orf80 gene C17orf80 Expert Review Amber;Literature Ataxia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial disease, MONDO:0044970 Ataxia;HP:0001251 41720819 False 2 0;100;0 1.203 True ENSG00000141219 ENSG00000141219 HGNC:29601 CAPN1 gene CAPN1 Expert list;Expert Review Amber;Expert Review Green Ataxia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 76, autosomal recessive, 616907;MONDO:0014827 Ataxia;HP:0001251 27320912;29678961;30572172;31023339;31104286 False 2 50;50;0 1.203 False ENSG00000014216 ENSG00000014216 HGNC:1476 CCDC88C gene CCDC88C Expert Review Amber;GeneReviews;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown autosomal dominant spinocerebellar ataxia;?Spinocerebellar ataxia 40, 616053 Ataxia;HP:0001251 25062847;30398676 False 2 33;67;0 1.203 False ENSG00000015133 ENSG00000015133 HGNC:19967 CHP1 gene CHP1 Expert Review Amber;Literature Ataxia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 9, autosomal recessive, OMIM #618438 Ataxia;HP:0001251 29379881;32787936 False 2 50;50;0 1.203 True ENSG00000187446 ENSG00000187446 HGNC:17433 HARS gene HARS Expert Review Amber;Literature Ataxia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal multisystem ataxic syndrome Ataxia;HP:0001251 32333447 False 2 33;67;0 1.203 True ENSG00000170445 ENSG00000170445 HGNC:4816 KCNQ2 gene KCNQ2 Expert list;Expert Review Amber;Royal Melbourne Hospital Ataxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Early infantile encephalopathy 7, 613720;Myokymia, 121200 Ataxia;HP:0001251 22169383;20962009;10575255 False 2 33;67;0 1.203 True ENSG00000075043 ENSG00000075043 HGNC:6296 MAPK8IP3 gene MAPK8IP3 Expert Review Amber;Literature;Royal Melbourne Hospital Ataxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431 Ataxia;HP:0001251 30612693;30945334 False 2 0;100;0 1.203 True ENSG00000138834 ENSG00000138834 HGNC:6884 MKKS gene MKKS Expert list;Expert Review Amber;Expert Review Green;Victorian Clinical Genetics Services Ataxia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 6, 605231 Ataxia;HP:0001251 15637713 False 2 67;33;0 1.203 True ENSG00000125863 ENSG00000125863 HGNC:7108 MTPAP gene MTPAP Expert Review Amber;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Ataxia, spastic, 4,;Autosomal recessive spastic ataxia 4, 613672 Ataxia;HP:0001251 20970105;26319014;25008111 False 2 50;50;0 1.203 True ENSG00000107951 ENSG00000107951 HGNC:25532 MT-TC gene MT-TC Expert list;Expert Review Amber Ataxia Neurology and neurodevelopmental disorders MITOCHONDRIAL Mitochondrial disease (MONDO:0044970), MT-TC-related Ataxia;HP:0001251 8829635;9185178;17241783;11453453;16955414;32169613;36039763;17724295;35252560;34433719;30030363 False 2 0;100;0 1.203 True ENSG00000210140 ENSG00000210140 HGNC:7477 PCNA gene PCNA ClinGen;Expert Review Amber Ataxia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal hereditary ataxia MONDO:0100309 Ataxia;HP:0001251 24911150, 33426167, 36990216 False 2 0;100;0 1.203 True ENSG00000132646 ENSG00000132646 HGNC:8729 PLD3 gene PLD3 Expert Review Amber;GeneReviews;Royal Melbourne Hospital Ataxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Spinocerebellar ataxia 46 Ataxia;HP:0001251 29053796;30312375;30312384;38059248 False 2 0;100;0 1.203 False ENSG00000105223 ENSG00000105223 HGNC:17158 PRKCG gene PRKCG Expert Review;Expert Review Amber Ataxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 14, MIM# 605361 Ataxia;HP:0001251 34292398 False 2 0;100;0 1.203 True ENSG00000126583 ENSG00000126583 HGNC:9402 PRPS1 gene PRPS1 Expert Review Amber;Literature Ataxia 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) Adult-onset progressive ataxia, congenital strabismus, infantile-onset hearing loss, retinal dystrophy Ataxia;HP:0001251 33898739;28967191 False 2 0;100;0 1.203 False ENSG00000147224 ENSG00000147224 HGNC:9462 RFXANK gene RFXANK Expert Review Amber;Literature Ataxia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Progressive Ataxia and Neurologic Regression;MHC class II deficiency, complementation group B MIM#209920 Ataxia;HP:0001251 PMID: 33855173;23314770;28676232 False 2 50;50;0 1.203 True ENSG00000064490 ENSG00000064490 HGNC:9987 SDHA gene SDHA Expert list;Expert Review Amber Ataxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259 Ataxia;HP:0001251 10976639;27683074 False 2 0;100;0 1.203 False ENSG00000073578 ENSG00000073578 HGNC:10680 SIDT2 gene SIDT2 Expert Review Amber;Literature Ataxia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Lysosomal storage disease, MONDO:0002561, SIDT2-related Ataxia;HP:0001251 PMID: 40541391 False 2 0;100;0 1.203 True ENSG00000149577 ENSG00000149577 HGNC:24272 SYNGAP1 gene SYNGAP1 Expert Review Amber;Royal Melbourne Hospital Ataxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal dominant mental retardation 5, 612621 Ataxia;HP:0001251 26989088 False 2 0;100;0 1.203 True ENSG00000197283 ENSG00000197283 HGNC:11497 TDP1 gene TDP1 Expert Review Amber;Royal Melbourne Hospital Ataxia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250 Ataxia;HP:0001251 31182267;12244316;39576382 False 2 0;100;0 1.203 True ENSG00000042088 ENSG00000042088 HGNC:18884 THG1L gene THG1L Expert Review Amber;Royal Melbourne Hospital Ataxia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 28, MIM# 618800 Ataxia;HP:0001251 27307223;30214071;31168944 False 2 0;100;0 1.203 True ENSG00000113272 ENSG00000113272 HGNC:26053 TMEM138 gene TMEM138 Expert Review Amber;Royal Melbourne Hospital Ataxia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Joubert syndrome 16, MIM# 614465" Ataxia;HP:0001251 False 2 0;100;0 1.203 True ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM231 gene TMEM231 Expert Review Amber;Royal Melbourne Hospital Ataxia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20, MIM# 614970;Meckel syndrome 11 615397 Ataxia;HP:0001251 False 2 0;100;0 1.203 True ENSG00000205084 ENSG00000205084 HGNC:37234 TRPC3 gene TRPC3 Expert Review Amber;GeneReviews;Royal Melbourne Hospital Ataxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ataxia;HP:0001251 25477146;26112884 False 2 0;100;0 1.203 False ENSG00000138741 ENSG00000138741 HGNC:12335 UBA5 gene UBA5 Expert Review Amber;GeneReviews;Royal Melbourne Hospital Ataxia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Autosomal recessive spinocerebellar ataxia 24, 617133;Early infantile epileptic encephalopathy 44, 617132 Ataxia;HP:0001251 26872069;29902590 False 2 0;100;0 1.203 True ENSG00000081307 ENSG00000081307 HGNC:23230 UBR4 gene UBR4 Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Episodic ataxia;Episodic ataxia type 8, 616055 Ataxia;HP:0001251 29062094;23982692;28600779 False 2 0;100;0 1.203 True ENSG00000127481 ENSG00000127481 HGNC:30313 VAMP1 gene VAMP1 Expert Review Amber;Royal Melbourne Hospital Ataxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal dominant spastic ataxia 1, 108600;Spastic ataxia 1, autosomal dominant, 108600 Ataxia;HP:0001251 22958904 False 2 0;100;0 1.203 False ENSG00000139190 ENSG00000139190 HGNC:12642 VRK1 gene VRK1 Expert list;Expert Review Amber Ataxia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 1A, 607596 Ataxia;HP:0001251 19646678;21937992;25609612;24126608;27281532 False 2 0;100;0 1.203 True ENSG00000100749 ENSG00000100749 HGNC:12718 ZFYVE26 gene ZFYVE26 Expert Review Amber;Royal Melbourne Hospital Ataxia Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Autosomal recessive spastic paraplegia 15, 270700 Ataxia;HP:0001251 24367272;18394578 False 2 0;100;0 1.203 False ENSG00000072121 ENSG00000072121 HGNC:20761 THAP11_SCA51_CAG str THAP11 Literature;Expert Review Amber;Expert Review Amber;Literature Ataxia Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 51 MONDO:0975800 Ataxia;HP:0001251 15368101;24677642;34165550;38113319;40459937;39651830;37148549 False 2 0;100;0 1.203 False ENSG00000168286 ENSG00000168286 HGNC:23194 16 67876766 67876853 67842863 67842950 CAG 39 47