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 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