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 Ataxia and cerebellar anomalies - narrow panel 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 1 0;0;0 8.76 False ENSG00000090861 ENSG00000090861 HGNC:20 ALAS2 gene ALAS2 Expert Review Red Ataxia and cerebellar anomalies - narrow panel 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 8.76 False ENSG00000158578 ENSG00000158578 HGNC:397 ATN1 gene ATN1 Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology Other Dentatorubral-pallidoluysian atrophy, OMIM:125370 False 1 0;0;0 8.76 False Other - please provide details in the comments ENSG00000111676 ENSG00000111676 HGNC:3033 ATXN1 gene ATXN1 Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology Other Spinocerebellar ataxia 1, OMIM:164400 False 1 0;0;0 8.76 False Other - please provide details in the comments ENSG00000124788 ENSG00000124788 HGNC:10548 ATXN10 gene ATXN10 Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology Other Spinocerebellar ataxia 10, OMIM:603516 False 1 0;0;0 8.76 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 Ataxia and cerebellar anomalies - narrow panel Neurology Other Spinocerebellar ataxia 2, OMIM:183090 False 1 0;0;0 8.76 False Other - please provide details in the comments ENSG00000204842 ENSG00000204842 HGNC:10555 ATXN3 gene ATXN3 Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology Other Machado-Joseph disease, OMIM:109150 False 1 0;0;0 8.76 False Other - please provide details in the comments ENSG00000066427 ENSG00000066427 HGNC:7106 ATXN7 gene ATXN7 Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology Other Spinocerebellar ataxia 7, OMIM:164500 False 1 0;0;0 8.76 False Other - please provide details in the comments ENSG00000163635 ENSG00000163635 HGNC:10560 ATXN8 gene ATXN8 Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 8 10192387 False 1 0;0;0 8.76 False Other - please provide details in the comments - - HGNC:32925 BEAN1 gene BEAN1 Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 31 117210 19878914 False 1 0;0;0 8.76 False ENSG00000166546 ENSG00000166546 HGNC:24160 BRF1 gene BRF1 Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellofaciodental syndrome 616202 25561519 False 1 0;0;0 8.76 False ENSG00000185024 ENSG00000185024 HGNC:11551 CACNB4 gene CACNB4 Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia, type 5;Episodic Ataxia PMC1378014 False 1 0;0;0 8.76 False ENSG00000182389 ENSG00000182389 HGNC:1404 CCDC88C gene CCDC88C Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown autosomal dominant spinocerebellar ataxia PMID: 25062847 False 1 0;0;0 8.76 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 CCT5 gene CCT5 Literature Ataxia and cerebellar anomalies - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Neuropathy, hereditary sensory, with spastic paraplegia, OMIM:256840 16333315;39480921 False 1 0;0;0 8.76 False ENSG00000150753 ENSG00000150753 HGNC:1618 CYP2U1 gene CYP2U1 Expert Review Red;NHS GMS Ataxia and cerebellar anomalies - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 56, autosomal recessive OMIM:615030;hereditary spastic paraplegia 56 MONDO:0014015 27292318 False 1 0;0;100 8.76 False ENSG00000155016 ENSG00000155016 HGNC:20582 DAB1 gene DAB1 Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal cerebellar ataxia, MONDO:0000437 28686858 False 1 0;0;100 8.76 False Other - please provide details in the comments ENSG00000173406 ENSG00000173406 HGNC:2661 DMXL2 gene DMXL2 Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal ?Polyendocrine-polyneuropathy syndrome, OMIM:616113 25248098 False 1 0;0;100 8.76 False ENSG00000104093 ENSG00000104093 HGNC:2938 DYNC1H1 gene DYNC1H1 Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Charcot Marie Tooth, SMA, Intellectual disability False 1 0;0;0 8.76 False ENSG00000197102 ENSG00000197102 HGNC:2961 ELOVL5 gene ELOVL5 Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 36 (#615957) False 1 0;0;0 8.76 False Other - please provide details in the comments ENSG00000012660 ENSG00000012660 HGNC:21308 EXOSC1 gene EXOSC1 Expert Review Red;Literature Ataxia and cerebellar anomalies - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia 33463720 False 1 0;0;100 8.76 False ENSG00000171311 ENSG00000171311 HGNC:17286 FMR1 gene FMR1 Expert Review Red;NHS GMS Ataxia and cerebellar anomalies - narrow panel 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 0;0;100 8.76 False ENSG00000102081 ENSG00000102081 HGNC:3775 FRMD4A gene FRMD4A Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819 25388005 False 1 0;0;0 8.76 False ENSG00000151474 ENSG00000151474 HGNC:25491 MTPAP gene MTPAP Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia, spastic, 4, False 1 0;0;0 8.76 False ENSG00000107951 ENSG00000107951 HGNC:25532 NAGLU gene NAGLU Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology 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;0 8.76 False Other - please provide details in the comments ENSG00000108784 ENSG00000108784 HGNC:7632 NMNAT2 gene NMNAT2 Expert Review Ataxia and cerebellar anomalies - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal hydrops fetalis;cystic hygroma;bilateral hypoplastic lungs;hydrocephalus;hypoplastic cerebellum;severely reduced skeletal muscle mass or absence;flexion contractures of all extremities;micrognathia;cleft palate;hydropic placenta 31136762 False 1 0;0;100 8.76 False ENSG00000157064 ENSG00000157064 HGNC:16789 NOP56 gene NOP56 Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology Other - please specifiy in evaluation comments Spinocerebellar ataxia 36, OMIM:614153 False 1 0;0;0 8.76 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 Ataxia and cerebellar anomalies - narrow panel Neurology Unknown Ataxia,spastic2,autosomalrecessive(2) False 1 0;0;0 8.76 False ENSG00000075891 ENSG00000075891 HGNC:8616 PCLO gene PCLO Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Pontocerebellar Hypoplasia type 3;Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree. PMID: 25832664 False 1 0;0;0 8.76 False ENSG00000186472 ENSG00000186472 HGNC:13406 PIK3R5 gene PIK3R5 Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Ataxia-oculomotor apraxia 3 False 1 0;0;0 8.76 False ENSG00000141506 ENSG00000141506 HGNC:30035 POMK gene POMK Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 615249 24925318 False 1 0;0;0 8.76 False ENSG00000185900 ENSG00000185900 HGNC:26267 PPP2R2B gene PPP2R2B Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology Other Spinocerebellar ataxia 12, OMIM:604326 False 1 0;0;0 8.76 False Other - please provide details in the comments ENSG00000156475 ENSG00000156475 HGNC:9305 PRICKLE1 gene PRICKLE1 Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1B, OMIM:612437 False 1 0;0;0 8.76 False ENSG00000139174 ENSG00000139174 HGNC:17019 RNU12 gene RNU12 Literature Ataxia and cerebellar anomalies - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal ?Spinocerebellar ataxia, autosomal recessive 33, OMIM:620208 27863452;33577674 False 1 0;0;100 8.76 False ENSG00000270022 ENSG00000276027 HGNC:19380 RUBCN gene RUBCN Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 15, OMIM:615705 20826435;23728897;32450808 False 1 100;0;0 8.76 False ENSG00000145016 ENSG00000145016 HGNC:28991 SAR1B gene SAR1B Expert Review Red;NHS GMS Ataxia and cerebellar anomalies - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Chylomicron retention disease, OMIM:246700 12692552;3792776;7601203;2426307;10521380;10665502;17945526 False 1 0;0;100 8.76 False ENSG00000152700 ENSG00000152700 HGNC:10535 SYT14 gene SYT14 Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellarataxia,autosomalrecessive11,614229 False 1 0;0;0 8.76 False ENSG00000143469 ENSG00000143469 HGNC:23143 TBP gene TBP Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology Other Spinocerebellar ataxia 17, OMIM:607136 False 1 0;0;0 8.76 False Other - please provide details in the comments ENSG00000112592 ENSG00000112592 HGNC:11588 TDP1 gene TDP1 Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive with axonal neuropathy False 1 0;0;0 8.76 False ENSG00000042088 ENSG00000042088 HGNC:18884 TPR gene TPR Literature Ataxia and cerebellar anomalies - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, MONDO:0000437 34494102 False 1 0;0;100 8.76 False ENSG00000047410 ENSG00000047410 HGNC:12017 TRIP4 gene TRIP4 Expert Review Red;Literature Ataxia and cerebellar anomalies - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal cerebellar hypoplasia and spinal muscular atrophy (PCH1) and congenital bone fractures. 34075209 False 1 0;50;50 8.76 False ENSG00000103671 ENSG00000103671 HGNC:12310 TRMT5 gene TRMT5 Literature Ataxia and cerebellar anomalies - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Peripheral neuropathy with variable spasticity, exercise intolerance, and developmental delay, OMIM:616539 35342985 False 1 0;0;100 8.76 False ENSG00000126814 ENSG00000126814 HGNC:23141 TUBB gene TUBB Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cortical dysplasia, complex, with other brain malformations 6, 615771 23246003, 27010057 False 1 0;0;0 8.76 False ENSG00000196230 ENSG00000196230 HGNC:20778 UBR4 gene UBR4 Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia PMID: 23982692 False 1 0;0;0 8.76 False ENSG00000127481 ENSG00000127481 HGNC:30313 ZFHX3 gene ZFHX3 Expert Review Red;Literature Ataxia and cerebellar anomalies - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 4, OMIM:600223;spinocerebellar ataxia type 4, MONDO:0010847 38412861;38035881;37292950 False 1 0;50;50 8.76 False ENSG00000140836 ENSG00000140836 HGNC:777 ZFYVE26 gene ZFYVE26 Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology 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;0 8.76 False ENSG00000072121 ENSG00000072121 HGNC:20761 ZNF592 gene ZNF592 Expert Review Red Ataxia and cerebellar anomalies - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 5 False 1 0;0;0 8.76 False ENSG00000166716 ENSG00000166716 HGNC:28986 GLS_GCA str GLS Expert Review Red;Literature Ataxia and cerebellar anomalies - narrow panel Neurology BIALLELIC, autosomal or pseudoautosomal Global developmental delay, progressive ataxia, and elevated glutamine, OMIM:618412 30970188 False 1 100;0;0 8.76 False ENSG00000115419 ENSG00000115419 HGNC:4331 2 191745599 191745646 190880873 190880920 GCA 50 400 THAP11_CAG str THAP11 Expert Review Red;Literature Ataxia and cerebellar anomalies - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 51, OMIM:620947 37148549;38757579;39441143 False 1 0;0;100 8.76 False ENSG00000168286 ENSG00000168286 HGNC:23194 16 67842863 67842950 CAG 38 47 ZFHX3_GGC str ZFHX3 Literature Ataxia and cerebellar anomalies - narrow panel Neurology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Spinocerebellar ataxia 4, OMIM:600223 False 1 100;0;0 8.76 False ENSG00000140836 ENSG00000140836 HGNC:777 16 72787694 72787757 GGC 26 41