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 Review Green;Expert Review Amber;Expert list;Victorian Clinical Genetics Services Ataxia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy;syndromic cleft palate;ataxia;retinal dystrophy 27799409;23105016 False 2 50;50;0 3.46 True ENSG00000107897 ENSG00000107897 HGNC:23338 ATG5 gene ATG5 Expert Review Amber;Royal Melbourne Hospital Ataxia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Spinocerebellar ataxia, autosomal recessive 25 16625204;26812546 False 2 0;100;0 3.46 True ENSG00000057663 ENSG00000057663 HGNC:589 ATP2B3 gene ATP2B3 Expert Review Amber;Expert list;Expert Review Amber;Royal Melbourne Hospital;GeneReviews Ataxia_Superpanel 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) Spinocerebellar ataxia, X-linked 1 False 2 0;100;0 3.46 True ENSG00000067842 ENSG00000067842 HGNC:816 CCDC88C gene CCDC88C Expert Review Amber;Royal Melbourne Hospital;GeneReviews;Victorian Clinical Genetics Services Ataxia_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown autosomal dominant spinocerebellar ataxia;?Spinocerebellar ataxia 40, 616053 25062847;30398676 False 2 33;67;0 3.46 True ENSG00000015133 ENSG00000015133 HGNC:19967 CHP1 gene CHP1 Expert Review Amber;Literature Ataxia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 9, autosomal recessive, OMIM #618438 29379881;32787936 False 2 50;50;0 3.46 True ENSG00000187446 ENSG00000187446 HGNC:17433 CHP1 gene CHP1 Expert Review Amber;Literature Ataxia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 9, autosomal recessive, OMIM #618438 29379881;32787936 False 2 50;50;0 3.46 True ENSG00000187446 ENSG00000187446 HGNC:17433 FDXR gene FDXR Expert Review Amber;Expert list;Victorian Clinical Genetics Services Ataxia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Auditory neuropathy and optic atrophy, 617717;Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887 30250212;28965846;29040572;33348459;37046037;37481223 False 2 0;50;50 3.46 True ENSG00000161513 ENSG00000161513 HGNC:3642 HARS gene HARS Expert Review Amber;Literature Ataxia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal multisystem ataxic syndrome 32333447 False 2 33;67;0 3.46 True ENSG00000170445 ENSG00000170445 HGNC:4816 KCNQ2 gene KCNQ2 Expert Review Amber;Expert list;Royal Melbourne Hospital Ataxia_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Early infantile encephalopathy 7, 613720;Myokymia, 121200 22169383;20962009;10575255 False 2 33;67;0 3.46 True ENSG00000075043 ENSG00000075043 HGNC:6296 MAPK8IP3 gene MAPK8IP3 Expert Review Amber;Literature;Royal Melbourne Hospital Ataxia_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431 30612693;30945334 False 2 0;100;0 3.46 True ENSG00000138834 ENSG00000138834 HGNC:6884 MKKS gene MKKS Expert Review Green;Expert Review Amber;Expert list;Victorian Clinical Genetics Services Ataxia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 6, 605231 15637713 False 2 67;33;0 3.46 True ENSG00000125863 ENSG00000125863 HGNC:7108 MTCL1 gene MTCL1 Expert Review Amber;Expert list Ataxia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal spinocerebellar ataxia 30548255;28283581 False 2 0;100;0 3.46 True ENSG00000168502 ENSG00000168502 HGNC:29121 MTPAP gene MTPAP Expert Review Green;Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Ataxia, spastic, 4,;Autosomal recessive spastic ataxia 4, 613672 20970105;26319014;25008111 False 2 50;50;0 3.46 True ENSG00000107951 ENSG00000107951 HGNC:25532 PLD3 gene PLD3 Expert Review Amber;Royal Melbourne Hospital;GeneReviews Ataxia_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Spinocerebellar ataxia 46 30312375;30312384;29053796 False 2 0;100;0 3.46 False ENSG00000105223 ENSG00000105223 HGNC:17158 PNPT1 gene PNPT1 Expert Review Amber;Literature Ataxia_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spinocerebellar ataxia 25, MIM# 608703" 35411967;37935417 False 2 50;50;0 3.46 True ENSG00000138035 ENSG00000138035 HGNC:23166 PRKCG gene PRKCG Expert Review Amber;Expert Review Ataxia_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 14, MIM# 605361 34292398 False 2 0;100;0 3.46 True ENSG00000126583 ENSG00000126583 HGNC:9402 PRPS1 gene PRPS1 Expert Review Amber;Literature Ataxia_Superpanel 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 33898739;28967191 False 2 33;67;0 3.46 True ENSG00000147224 ENSG00000147224 HGNC:9462 RFXANK gene RFXANK Expert Review Amber;Literature Ataxia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Progressive Ataxia and Neurologic Regression;MHC class II deficiency, complementation group B MIM#209920 PMID: 33855173;23314770;28676232 False 2 50;50;0 3.46 True ENSG00000064490 ENSG00000064490 HGNC:9987 SDHA gene SDHA Expert Review Amber;Expert list Ataxia_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259 10976639;27683074 False 2 0;100;0 3.46 True ENSG00000073578 ENSG00000073578 HGNC:10680 SLC9A1 gene SLC9A1 Expert Review Amber;Royal Melbourne Hospital Ataxia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Lichtenstein-Knorr Syndrome, MIM# 616291" 25205112;30018422;25760855 False 2 0;100;0 3.46 True ENSG00000090020 ENSG00000090020 HGNC:11071 SYNGAP1 gene SYNGAP1 Expert Review Amber;Royal Melbourne Hospital Ataxia_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal dominant mental retardation 5, 612621 26989088 False 2 0;100;0 3.46 True ENSG00000197283 ENSG00000197283 HGNC:11497 TDP1 gene TDP1 Expert Review Amber;Royal Melbourne Hospital Ataxia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250 31182267;12244316 False 2 0;100;0 3.46 True ENSG00000042088 ENSG00000042088 HGNC:18884 TMEM138 gene TMEM138 Expert Review Amber;Royal Melbourne Hospital Ataxia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Joubert syndrome 16, MIM# 614465" False 2 0;100;0 3.46 True ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM231 gene TMEM231 Expert Review Amber;Royal Melbourne Hospital Ataxia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20, MIM# 614970;Meckel syndrome 11 615397 False 2 0;100;0 3.46 True ENSG00000205084 ENSG00000205084 HGNC:37234 TRPC3 gene TRPC3 Expert Review Amber;Royal Melbourne Hospital;GeneReviews Ataxia_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown 25477146;26112884 False 2 0;100;0 3.46 True ENSG00000138741 ENSG00000138741 HGNC:12335 UBA5 gene UBA5 Expert Review Amber;Royal Melbourne Hospital;GeneReviews Ataxia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal ?Autosomal recessive spinocerebellar ataxia 24, 617133;Early infantile epileptic encephalopathy 44, 617132 26872069;29902590 False 2 0;100;0 3.46 True ENSG00000081307 ENSG00000081307 HGNC:23230 UBR4 gene UBR4 Expert Review Amber;Literature;Victorian Clinical Genetics Services Ataxia_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia type 8 29062094;23982692;28600779 False 2 0;100;0 3.46 True ENSG00000127481 ENSG00000127481 HGNC:30313 UBR4 gene UBR4 Expert Review Amber;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Episodic ataxia;Episodic ataxia type 8, 616055 29062094;23982692;28600779 False 2 0;100;0 3.46 True ENSG00000127481 ENSG00000127481 HGNC:30313 VAMP1 gene VAMP1 Expert Review Amber;Royal Melbourne Hospital Ataxia_Superpanel Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Autosomal dominant spastic ataxia 1, 108600;Spastic ataxia 1, autosomal dominant, 108600 22958904 False 2 0;100;0 3.46 True ENSG00000139190 ENSG00000139190 HGNC:12642 VRK1 gene VRK1 Expert Review Amber;Expert list Ataxia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 1A, 607596 19646678;21937992;25609612;24126608;27281532 False 2 0;100;0 3.46 True ENSG00000100749 ENSG00000100749 HGNC:12718 ZFYVE26 gene ZFYVE26 Expert Review Amber;Royal Melbourne Hospital Ataxia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Autosomal recessive spastic paraplegia 15, 270700 24367272;18394578 False 2 50;50;0 3.46 True ENSG00000072121 ENSG00000072121 HGNC:20761 CANVAS_ACAGG str RFC1 Expert Review Amber;Literature Ataxia_Superpanel Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome;fasciculations;elevated serum creatine kinase levels;denervation 33103729 False 2 0;100;0 3.46 True ENSG00000035928 ENSG00000035928 HGNC:9969 4 39350045 39350103 39348425 39348483 ACAGG 0 400