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 AAAS gene AAAS Expert list;Expert Review Green;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Achalasia-addisonianism-alacrimia syndrome MIM#231550 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000094914 ENSG00000094914 HGNC:13666 ABCB7 gene ABCB7 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric 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) Anemia, sideroblastic, with ataxia;Sideroblastic Anemia and Ataxia;Anemia, sideroblast with ataxia, 300135 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000131269 ENSG00000131269 HGNC:48 ABHD12 gene ABHD12 Expert list;Expert Review Green;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000100997 ENSG00000100997 HGNC:15868 ACBD6 gene ACBD6 Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785 Ataxia;HP:0001251 37951597 False 3 100;0;0 1.30 True ENSG00000230124 ENSG00000230124 HGNC:23339 ACO2 gene ACO2 Expert list;Expert Review Green;GeneReviews;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Infantile cerebellar-retinal degeneration, MIM#614559 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000100412 ENSG00000100412 HGNC:118 ADGRG1 gene ADGRG1 Expert list;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Polymicrogyria, Frontoparietal, 606854;Polymicrogyria, perisylvian type, 615752 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000205336 ENSG00000205336 HGNC:4512 ADPRHL2 gene ADPRHL2 Expert list;Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration, childhood-onset, stress-induced with variable ataxia and seizures, 618170 Ataxia;HP:0001251 30100084;30401461 False 3 100;0;0 1.30 True ENSG00000116863 ENSG00000116863 HGNC:21304 AFG3L2 gene AFG3L2 Expert list;Expert Review Green;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic ataxia 5, autosomal recessive MIM#614487;Spinocerebellar ataxia 28 MIM#610246 Ataxia;HP:0001251 20725928 False 3 100;0;0 1.30 True ENSG00000141385 ENSG00000141385 HGNC:315 AGTPBP1 gene AGTPBP1 Expert Review;Expert Review Green Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy;Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 Ataxia;HP:0001251 30420557 False 3 100;0;0 1.30 True ENSG00000135049 ENSG00000135049 HGNC:17258 AHI1 gene AHI1 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 3 Ataxia;HP:0001251 25616960 False 3 100;0;0 1.30 True ENSG00000135541 ENSG00000135541 HGNC:21575 ALDH5A1 gene ALDH5A1 Expert Review Green;NHS GMS;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Ataxia;HP:0001251 14635103 False 3 100;0;0 1.30 True ENSG00000112294 ENSG00000112294 HGNC:408 ANO10 gene ANO10 Expert list;Expert Review Green;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 10 MIM#613728 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000160746 ENSG00000160746 HGNC:25519 AP1S2 gene AP1S2 Expert list;Expert Review Green;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Pettigrew syndrome, MIM# 304340 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000182287 ENSG00000182287 HGNC:560 APTX gene APTX Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920 Ataxia;HP:0001251 30986824;26256098;11586299 False 3 100;0;0 1.30 True ENSG00000137074 ENSG00000137074 HGNC:15984 ARL13B gene ARL13B Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Joubert syndrome 8, MIM# 612291" Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000169379 ENSG00000169379 HGNC:25419 ARSA gene ARSA Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Metachromatic Leukodystrophy, 250100;Metachromatic leukodystrophy (#250100) Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000100299 ENSG00000100299 HGNC:713 ATCAY gene ATCAY Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia, cerebellar, Cayman type, MIM# 601238;MONDO:0011025 Ataxia;HP:0001251 14556008;29449188;23226316;26343454 False 3 50;50;0 1.30 True ENSG00000167654 ENSG00000167654 HGNC:779 ATG7 gene ATG7 Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, SCAR31, MIM#619422 Ataxia;HP:0001251 34161705 False 3 100;0;0 1.30 True ENSG00000197548 ENSG00000197548 HGNC:16935 ATM gene ATM Expert list;Expert Review Green;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia-telangiectasia MIM#208900 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000149311 ENSG00000149311 HGNC:795 ATP1A3 gene ATP1A3 Expert list;Expert Review Green;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alternating hemiplegia of childhood 2 MIM#614820;CAPOS syndrome MIM#601338 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000105409 ENSG00000105409 HGNC:801 ATP2B2 gene ATP2B2 Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related Ataxia;HP:0001251 PMID: 37675773 False 3 100;0;0 1.30 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000157087 ENSG00000157087 HGNC:815 ATP6V0A1 gene ATP6V0A1 Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 104 MIM#619970;Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971 Ataxia;HP:0001251 PMID:34909687 False 3 50;50;0 1.30 True ENSG00000033627 ENSG00000033627 HGNC:865 ATP8A2 gene ATP8A2 Expert list;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268 Ataxia;HP:0001251 22892528;31612321 False 3 100;0;0 1.30 True ENSG00000132932 ENSG00000132932 HGNC:13533 BBS1 gene BBS1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 1, 209900 Ataxia;HP:0001251 15637713 False 3 100;0;0 1.30 True ENSG00000174483 ENSG00000174483 HGNC:966 BRAT1 gene BRAT1 Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056 Ataxia;HP:0001251 26483087;26494257;27282546 False 3 100;0;0 1.30 True ENSG00000106009 ENSG00000106009 HGNC:21701 C5orf42 gene C5orf42 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Joubert syndrome 17, MIM# 614615" Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000197603 ENSG00000197603 HGNC:25801 CA8 gene CA8 Expert list;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3;Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 Ataxia;HP:0001251 21937992;19461874 False 3 100;0;0 1.30 True ENSG00000178538 ENSG00000178538 HGNC:1382 CACNA1A gene CACNA1A Expert list;Expert Review Green Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Episodic ataxia, type 2 MIM#108500 Ataxia;HP:0001251 False 3 50;50;0 1.30 True ENSG00000141837 ENSG00000141837 HGNC:1388 CACNA1G gene CACNA1G Expert list;Expert Review Green;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits MIM#618087 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000006283 ENSG00000006283 HGNC:1394 CACNA2D2 gene CACNA2D2 Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar atrophy with seizures and variable developmental delay MIM#618501 Ataxia;HP:0001251 23339110;24358150;30410802;29997391;31402629 False 3 100;0;0 1.30 True ENSG00000007402 ENSG00000007402 HGNC:1400 CAD gene CAD Expert list;Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epileptic encephalopathy, early infantile, 50;OMIM # 616457 Ataxia;HP:0001251 PMID: 32820246 False 3 100;0;0 1.30 True ENSG00000084774 ENSG00000084774 HGNC:1424 CAMTA1 gene CAMTA1 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cerebellarataxia, nonprogressive, with mental retardation, 614756;Cerebellar ataxia with mental retardation, 614756 Ataxia;HP:0001251 32157189;22693284 False 3 100;0;0 1.30 True ENSG00000171735 ENSG00000171735 HGNC:18806 CASK gene CASK Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric 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) FG syndrome 4, 300422;Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000147044 ENSG00000147044 HGNC:1497 CBY1 gene CBY1 Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal intellectual disability;cerebellar ataxia;molar tooth sign;polydactyly;Joubert syndrome Ataxia;HP:0001251 33131181;25103236;25220153 False 3 100;0;0 1.30 True ENSG00000100211 ENSG00000100211 HGNC:1307 CC2D2A gene CC2D2A Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 9 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000048342 ENSG00000048342 HGNC:29253 CEP290 gene CEP290 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 5 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP41 gene CEP41 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 15 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000106477 ENSG00000106477 HGNC:12370 CLN5 gene CLN5 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid lipofuscinosis neuronal 5, MIM# 256731 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000102805 ENSG00000102805 HGNC:2076 CLN6 gene CLN6 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ceroid neuronal lipofuscinosis 6, 601780;Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300;Ceroid neuronal lipofuscinosis kufs type, 204300;Ceroid lipofuscinosis, neuronal, 6, 601780 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000128973 ENSG00000128973 HGNC:2077 CLPP gene CLPP Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 3, MIM# 614129 Ataxia;HP:0001251 25254289 False 3 100;0;0 1.30 True ENSG00000125656 ENSG00000125656 HGNC:2084 COA7 gene COA7 Expert list;Expert Review Green Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000162377 ENSG00000162377 HGNC:25716 COQ4 gene COQ4 Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 7, MIM# 616276;Childhood-onset ataxia Ataxia;HP:0001251 30225196;33704555;30847826 False 3 100;0;0 1.30 True ENSG00000167113 ENSG00000167113 HGNC:19693 COQ8A gene COQ8A Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Primary coenzyme Q10 deficiency 4, 612016;Spinocerebellar Ataxia Type;Coenzyme Q10 deficiency, primary 4, 612016 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000163050 ENSG00000163050 HGNC:16812 COX20 gene COX20 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex IV deficiency, 220110;Mitochondrial complex IV deficiency Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000203667 ENSG00000203667 HGNC:26970 CSTB gene CSTB Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM#254800 Ataxia;HP:0001251 9012407;9054946 False 3 50;50;0 1.30 True ENSG00000160213 ENSG00000160213 HGNC:2482 CTBP1 gene CTBP1 Expert list;Expert Review Green Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, MIM#617915 Ataxia;HP:0001251 27094857;28955726;31041561 False 3 100;0;0 1.30 True ENSG00000159692 ENSG00000159692 HGNC:2494 CWF19L1 gene CWF19L1 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 17, 616127;Autosomal recessive spinocerebellar ataxia type 17, 616127 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000095485 ENSG00000095485 HGNC:25613 CYP27A1 gene CYP27A1 Expert Review Green;NHS GMS;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebrotendinous xanthomatosis, 213700 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000135929 ENSG00000135929 HGNC:2605 DAGLA gene DAGLA Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neuroocular syndrome 2, paroxysmal type, MIM# 168885 Ataxia;HP:0001251 35737950 False 3 100;0;0 1.30 True ENSG00000134780 ENSG00000134780 HGNC:1165 DARS2 gene DARS2 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation;Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000117593 ENSG00000117593 HGNC:25538 DDHD2 gene DDHD2 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132.;Spastic paraplegia 54 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000085788 ENSG00000085788 HGNC:29106 DHDDS gene DHDDS Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Developmental delay and seizures with or without movement abnormalities, OMIM:617836 Ataxia;HP:0001251 29100083;33798445;34182312;34382076 False 3 100;0;0 1.30 True ENSG00000117682 ENSG00000117682 HGNC:20603 DNAJC19 gene DNAJC19 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type V 610198;dilated cardiomyopathy with ataxia (DCMA) syndrome;3-methylglutaconic aciduria type V, 610198 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000205981 ENSG00000205981 HGNC:30528 DOCK3 gene DOCK3 Expert list;Expert Review Green Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000088538 ENSG00000088538 HGNC:2989 EBF3 gene EBF3 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypotonia, ataxia and delayed development syndrome, 617330 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000108001 ENSG00000108001 HGNC:19087 EEFSEC gene EEFSEC Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder, MONDO:0700092, EEFSEC-related Ataxia;HP:0001251 39753114 False 3 100;0;0 1.30 True ENSG00000132394 ENSG00000132394 HGNC:24614 EIF2B1 gene EIF2B1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter MIM#603896 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000111361 ENSG00000111361 HGNC:3257 EIF2B2 gene EIF2B2 Expert list;Expert Review Green;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter MIM#603896 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000119718 ENSG00000119718 HGNC:3258 EIF2B3 gene EIF2B3 Expert list;Expert Review Green Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter MIM#603896 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000070785 ENSG00000070785 HGNC:3259 EIF2B4 gene EIF2B4 Expert list;Expert Review Green Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter MIM#603896 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000115211 ENSG00000115211 HGNC:3260 EIF2B5 gene EIF2B5 Expert list;Expert Review Green Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy with vanishing white matter MIM#603896 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000145191 ENSG00000145191 HGNC:3261 EPM2A gene EPM2A Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Progressive myoclonic epilepsy 2A, Lafora, 254780;Epilepsy, progressive myoclonic 2A (Lafora) 254780 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000112425 ENSG00000112425 HGNC:3413 EXOSC5 gene EXOSC5 Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576;Short stature;Motor developmental delays;Cerebellar hypoplasia;Ataxia Ataxia;HP:0001251 32504085;29302074 False 3 100;0;0 1.30 True ENSG00000077348 ENSG00000077348 HGNC:24662 FA2H gene FA2H Expert list;Expert Review Green Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 35, autosomal recessive MIM#612319" Ataxia;HP:0001251 31135052 False 3 100;0;0 1.30 True ENSG00000103089 ENSG00000103089 HGNC:21197 FBXL4 gene FBXL4 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), MIM# 615471 Ataxia;HP:0001251 28383868 False 3 100;0;0 1.30 True ENSG00000112234 ENSG00000112234 HGNC:13601 FDXR gene FDXR Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887 Ataxia;HP:0001251 30250212;28965846;29040572;33348459;37046037;37481223 False 3 100;0;0 1.30 True ENSG00000161513 ENSG00000161513 HGNC:3642 FGF14 gene FGF14 Expert list;Expert Review Green Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 27 MIM#609307 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000102466 ENSG00000102466 HGNC:3671 FLVCR1 gene FLVCR1 Expert list;Expert Review Green Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia, posterior column, with retinitis pigmentosa MIM#609033 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000162769 ENSG00000162769 HGNC:24682 FOLR1 gene FOLR1 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration due to cerebral folate transport deficiency, 613068;Neurodegeneration due to cerebral folate transport deficiency Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000110195 ENSG00000110195 HGNC:3791 FRMD5 gene FRMD5 Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094 Ataxia;HP:0001251 36206744 False 3 100;0;0 1.30 True ENSG00000171877 ENSG00000171877 HGNC:28214 FXN gene FXN Expert list;Expert Review Green Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Friedreich ataxia MIM#229300 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000165060 ENSG00000165060 HGNC:3951 GBA2 gene GBA2 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic paraplegia 46, autosomal recessive, MIM# 614409;MONDO:0013737 Ataxia;HP:0001251 23332916;23332917;29524657 False 3 100;0;0 1.30 True ENSG00000070610 ENSG00000070610 HGNC:18986 GEMIN5 gene GEMIN5 Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM # 619333 Ataxia;HP:0001251 34569062;33963192 False 3 100;0;0 1.30 True ENSG00000082516 ENSG00000082516 HGNC:20043 GJC2 gene GJC2 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hypomyelinating leukodystrophy 2, 608804;Leukodystrophy, hypomyelinating, 2;Autosomal Recessive Ataxia;Spastic paraplegia 44, 613206 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000198835 ENSG00000198835 HGNC:17494 GOSR2 gene GOSR2 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Epilepsy, progressive myoclonic 6, 614018;Progressive myoclonic epilepsy 6, 614018 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000108433 ENSG00000108433 HGNC:4431 GPAA1 gene GPAA1 Expert list;Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Glycosylphosphatidylinositol biosynthesis defect 15, 617810 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000197858 ENSG00000197858 HGNC:4446 GRID2 gene GRID2 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 18, 616204 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000152208 ENSG00000152208 HGNC:4576 GRM1 gene GRM1 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 13;Spinocerebellar ataxia 44, 617691, autosomal recessive spinocerebellar ataxia type 13, 614831 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000152822 ENSG00000152822 HGNC:4593 GSS gene GSS Expert Review Green;NHS GMS;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Gluthathione synthetase deficiency, MIM# 266130 Ataxia;HP:0001251 15717202 False 3 100;0;0 1.30 True ENSG00000100983 ENSG00000100983 HGNC:4624 HEXA gene HEXA Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal GM2-gangliosidosis, several forms, 272800;Tay-Sachs disease, 272800 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000213614 ENSG00000213614 HGNC:4878 HEXB gene HEXB Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Sandhoff disease, infantile, juvenile, and adult forms, 268800;Sandhoff disease, 268800 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000049860 ENSG00000049860 HGNC:4879 INPP5E gene INPP5E Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 1 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000148384 ENSG00000148384 HGNC:21474 IRF2BPL gene IRF2BPL Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with regression, abnormal movement, loss of speech and seizures, 618088 Ataxia;HP:0001251 30057031 False 3 100;0;0 1.30 True ENSG00000119669 ENSG00000119669 HGNC:14282 ITPR1 gene ITPR1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 15 MIM#606658;Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000150995 ENSG00000150995 HGNC:6180 KCNA1 gene KCNA1 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown EPISODIC ATAXIA, TYPE 1;myokymia with periodic ataxia;Episodic ataxia/myokymia syndrome, 160120;Episodic ataxia/myokymia syndrome Ataxia;HP:0001251 11026449 False 3 100;0;0 1.30 True Other ENSG00000111262 ENSG00000111262 HGNC:6218 KCNA2 gene KCNA2 Expert list;Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Early infantile encephalopathy 32, 616366 Ataxia;HP:0001251 29050392 False 3 100;0;0 1.30 True ENSG00000177301 ENSG00000177301 HGNC:6220 KCNC3 gene KCNC3 Expert list;Expert Review Green;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Spinocerebellar ataxia 13 MIM#605259 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000131398 ENSG00000131398 HGNC:6235 KCND3 gene KCND3 Expert Review;Expert Review Green Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spinocerebellar ataxia 19, MIM# 607346" Ataxia;HP:0001251 32823520 False 3 100;0;0 1.30 True ENSG00000171385 ENSG00000171385 HGNC:6239 KCNJ10 gene KCNJ10 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome;SESAME syndrome, 612780 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000177807 ENSG00000177807 HGNC:6256 KCNN2 gene KCNN2 Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725 Ataxia;HP:0001251 33242881 False 3 100;0;0 1.30 True ENSG00000080709 ENSG00000080709 HGNC:6291 KIF1C gene KIF1C Expert list;Expert Review Green Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 2, autosomal recessive MIM#611302 Ataxia;HP:0001251 24482476;24319291;31413903;29544888 False 3 100;0;0 1.30 True ENSG00000129250 ENSG00000129250 HGNC:6317 KIF7 gene KIF7 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Koubert syndrome 12;Acrocallosal syndrome, Schinzel type Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000166813 ENSG00000166813 HGNC:30497 LAMA1 gene LAMA1 Expert list;Expert Review Green;GeneReviews;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Poretti-Boltshauser syndrome;Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Ataxia;HP:0001251 26932191;25105227 False 3 100;0;0 1.30 True ENSG00000101680 ENSG00000101680 HGNC:6481 LARS2 gene LARS2 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Perrault syndrome 4;Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021;Leukodystrophy Ataxia;HP:0001251 29205794;32423379;30737337 False 3 100;0;0 1.30 True ENSG00000011376 ENSG00000011376 HGNC:17095 LETM1 gene LETM1 Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089 Ataxia;HP:0001251 36055214 False 3 100;0;0 1.30 True ENSG00000168924 ENSG00000168924 HGNC:6556 MAG gene MAG Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spastic paraplegia 75, autosomal recessive, MIM# 616680;Cerebellar ataxia;Oculomotor apraxia" Ataxia;HP:0001251 32629324;32340215;32629324 False 3 100;0;0 1.30 True ENSG00000105695 ENSG00000105695 HGNC:6783 MARS2 gene MARS2 Australian Genomics Health Alliance Mitochondrial Flagship;Expert list;Expert Review Green;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia 3, autosomal recessive MIM#611390 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000247626 ENSG00000247626 HGNC:25133 MKS1 gene MKS1 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 28 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000011143 ENSG00000011143 HGNC:7121 MMACHC gene MMACHC Expert Review Green;NHS GMS;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria and homocystinuria cblC type, 277400;Methylmalonic aciduria and homocystinuria, cblC type, 277400;Ataxia and hypogonadism Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000132763 ENSG00000132763 HGNC:24525 MORC2 gene MORC2 Expert list;Expert Review Green Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Axonal type CMT disease type 2Z, 616688;Cerebellar ataxia Ataxia;HP:0001251 28402445 False 3 50;0;50 1.30 True ENSG00000133422 ENSG00000133422 HGNC:23573 MRE11 gene MRE11 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ataxia-Telangiectasia-Like Disorder;Ataxia-telangiectasia-like disorder 1, 604391 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000020922 ENSG00000020922 HGNC:7230 MSTO1 gene MSTO1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myopathy, mitochondrial, and ataxia MIM#617675 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000125459 ENSG00000125459 HGNC:29678 MTCL1 gene MTCL1 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal slowly progressive cerebellar ataxia, mild intellectual disability, seizures in childhood and episodic pain in the lower limbs Ataxia;HP:0001251 30548255;28283581 False 3 100;0;0 1.30 True ENSG00000168502 ENSG00000168502 HGNC:29121 MTFMT gene MTFMT Expert list;Expert Review Green;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 15 MIM#614947;Mitochondrial complex I deficiency, nuclear type 27 MIM#618248 Ataxia;HP:0001251 26060307;24461907 False 3 100;0;0 1.30 True ENSG00000103707 ENSG00000103707 HGNC:29666 MTTP gene MTTP Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Abetalipoproteinemia, 200100;Abetalipoproteinemia Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000138823 ENSG00000138823 HGNC:7467 MVK gene MVK Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mevalonic aciduria 610377 Ataxia;HP:0001251 12563048;10401001;28095071 False 3 100;0;0 1.30 True ENSG00000110921 ENSG00000110921 HGNC:7530 NHLRC1 gene NHLRC1 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Progressive myoclonic epilepsy 2B, Lafora, 254780;Epilepsy, progressive myoclonic 2B (Lafora) 254780 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000187566 ENSG00000187566 HGNC:21576 NKX2-1 gene NKX2-1 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978;Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978;Chorea, hereditary benign 118700;Hereditary bening chorea, 118700 Ataxia;HP:0001251 10931427;27066577;26839702;26103969 False 3 100;0;0 1.30 True ENSG00000136352 ENSG00000136352 HGNC:11825 NKX6-2 gene NKX6-2 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Autosomal recessive spastic ataxia 8 with hypomyelinating leukodystrophy, 617560;Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000148826 ENSG00000148826 HGNC:19321 NOVA2 gene NOVA2 Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM #618859 Ataxia;HP:0001251 PMID: 32197073 False 3 100;0;0 1.30 True ENSG00000104967 ENSG00000104967 HGNC:7887 NPC1 gene NPC1 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease type C1, 257220;Niemann-Pick disease types C1 and D (#257220) Ataxia;HP:0001251 10480349;17003072;25497598;33228797 False 3 100;0;0 1.30 True ENSG00000141458 ENSG00000141458 HGNC:7897 NPC2 gene NPC2 Expert list;Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Niemann-Pick disease type C2, 607625;Niemann-Pick disease type C2 (#607625) Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000119655 ENSG00000119655 HGNC:14537 NPHP1 gene NPHP1 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 4 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000144061 ENSG00000144061 HGNC:7905 NUBPL gene NUBPL Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex I deficiency, nuclear type 21, OMIM # 618242 Ataxia;HP:0001251 23553477;32518176 False 3 100;0;0 1.30 True ENSG00000151413 ENSG00000151413 HGNC:20278 NUS1 gene NUS1 Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Epilepsy, myoclonus, ataxia and scoliosis;Mental retardation, autosomal dominant 55, with seizures, 617831 Ataxia;HP:0001251 PMID: 31656175;29100083 False 3 100;0;0 1.30 True ENSG00000153989 ENSG00000153989 HGNC:21042 OFD1 gene OFD1 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 10 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000046651 ENSG00000046651 HGNC:2567 OPA1 gene OPA1 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Behr syndrome, 210000;Optic atrophy plus syndrome, 125250;Optic atrophy 1, 165500 Ataxia;HP:0001251 30165240;28494813 False 3 100;0;0 1.30 True ENSG00000198836 ENSG00000198836 HGNC:8140 OPA3 gene OPA3 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal 3-methylglutaconic aciduria, type III, 258501;Optic atrophy 3 with cataract, 165300;3-methylglutaconic aciduria type III, 258501;Costeff syndrome Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000125741 ENSG00000125741 HGNC:8142 OPHN1 gene OPHN1 Expert list;Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric 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) X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance, 300486;Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000079482 ENSG00000079482 HGNC:8148 PEX16 gene PEX16 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Zellweger syndrome (614876);Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis;Peroxisome biogenesis disorder 8A, 614876;Peroxisome biogenesis disorder 8B, 614877 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000121680 ENSG00000121680 HGNC:8857 PEX7 gene PEX7 Expert Review Green;GeneReviews;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Refsum disease;Peroxisome biogenesis disorder 9B, MIM#614879 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000112357 ENSG00000112357 HGNC:8860 PHYH gene PHYH Expert Review Green;GeneReviews;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Refsum disease, MIM# 266500" Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000107537 ENSG00000107537 HGNC:8940 PIGS gene PIGS Expert Review;Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Developmental and epileptic encephalopathy 95, OMIM # 618143 Ataxia;HP:0001251 30269814;33410539 False 3 100;0;0 1.30 True ENSG00000087111 ENSG00000087111 HGNC:14937 PITRM1 gene PITRM1 Expert list;Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia-30 (SCAR30), MIM#619405;intellectual disability;cognitive decline;psychosis Ataxia;HP:0001251 26697887;29764912 False 3 100;0;0 1.30 True ENSG00000107959 ENSG00000107959 HGNC:17663 PLA2G6 gene PLA2G6 Expert list;Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Autosomal recessive Parkinson disease 14, 612953;Parkinson disease 14 (#612953);Infantile neuroaxonal dystrophy 1 (#256600);Infantile neuroaxonal dystrophy 1, 256600;Neurodegeneration with brain iron accumulation 2B (#610217);Neurodegeneration with brain iron accumulation 2B, 610217 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000184381 ENSG00000184381 HGNC:9039 PMPCA gene PMPCA Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200 Ataxia;HP:0001251 25808372;26657514;33272776;30617178 False 3 100;0;0 1.30 True ENSG00000165688 ENSG00000165688 HGNC:18667 PMPCB gene PMPCB Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Multiple mitochondrial dysfunctions syndrome 6, 617954 Ataxia;HP:0001251 29576218 False 3 100;0;0 1.30 True ENSG00000105819 ENSG00000105819 HGNC:9119 PNKD gene PNKD Expert list;Expert Review Green;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Paroxysmal nonkinesigenic dyskinesia 1, 118800 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000127838 ENSG00000127838 HGNC:9153 PNKP gene PNKP Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Microcephaly, seizures and developmental delay, 613402;Ataxia-oculomotor apraxia 4, 616267;Ataxia with oculomotor apraxia 4 (#616267) Ataxia;HP:0001251 31436889;31707899 False 3 100;0;0 1.30 True ENSG00000039650 ENSG00000039650 HGNC:9154 PNPLA6 gene PNPLA6 Expert list;Expert Review Green Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Boucher-Neuhauser syndrome MIM#215470;Laurence-Moon syndrome MIM#245800;Oliver-McFarlane syndrome MIM#275400;Spastic paraplegia 39, autosomal recessive MIM#612020 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000032444 ENSG00000032444 HGNC:16268 POLG gene POLG Expert list;Expert Review Green;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700;Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662;Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459;Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000140521 ENSG00000140521 HGNC:9179 POLR3A gene POLR3A Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Autosomal Recessive Ataxia;Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism;Hypomyelinating leukodystrophy 7 with or without oligodontia and/or hypogonadotrophic hypogonadism, 607694 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000148606 ENSG00000148606 HGNC:30074 POLR3B gene POLR3B Expert Review Green;GeneReviews;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM#614381 Ataxia;HP:0001251 22036171;22036172 False 3 100;0;0 1.30 True ENSG00000013503 ENSG00000013503 HGNC:30348 POU4F1 gene POU4F1 Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Ataxia;intention tremor;hypotonia Ataxia;HP:0001251 33783914;8876243 False 3 100;0;0 1.30 True ENSG00000152192 ENSG00000152192 HGNC:9218 PRDX3 gene PRDX3 Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia (early onset, mild to moderate, progressive) Ataxia;HP:0001251 33889951 False 3 100;0;0 1.30 True ENSG00000165672 ENSG00000165672 HGNC:9354 PRRT2 gene PRRT2 Expert list;Expert Review Green;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Episodic kinesigenic dyskinesia 1 MIM#128200;Convulsions, familial infantile, with paroxysmal choreoathetosis MIM#602066;Seizures, benign familial infantile, 2 MIM#605751 Ataxia;HP:0001251 26598494;31193310;30501978;30713971 False 3 100;0;0 1.30 True ENSG00000167371 ENSG00000167371 HGNC:30500 PTRH2 gene PTRH2 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Infantile multi-system neurologic, endocrine, and pancreatic disease, 616263 Ataxia;HP:0001251 25558065;25574476;31057140;27129381 False 3 100;0;0 1.30 True ENSG00000141378 ENSG00000141378 HGNC:24265 RNF216 gene RNF216 Expert list;Expert Review Green Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000011275 ENSG00000011275 HGNC:21698 RNF220 gene RNF220 Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukodystrophy, hypomyelinating, 23, with ataxia, deafness, liver dysfunction, and dilated cardiomyopathy, MIM# 619688;Leukodystrophy;CNS hypomyelination;Ataxia;Intellectual disability;Sensorineural hearing impairment;Elevated hepatic transaminases;Hepatic fibrosis;Dilated cardiomyopathy;Spastic paraplegia;Dysarthria;Abnormality of the corpus callosum Ataxia;HP:0001251 33964137;10881263 False 3 100;0;0 1.30 True ENSG00000187147 ENSG00000187147 HGNC:25552 RORA gene RORA Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 Ataxia;HP:0001251 29656859 False 3 100;0;0 1.30 True ENSG00000069667 ENSG00000069667 HGNC:10258 RPGRIP1L gene RPGRIP1L Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Joubert syndrome 7, MIM# 611560" Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000103494 ENSG00000103494 HGNC:29168 RUBCN gene RUBCN Expert Review Green;Royal Melbourne Hospital;Royal Melbourne Hospital Clinical Genetics Department;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 15, MIM#615705 Ataxia;HP:0001251 20826435;23728897 False 3 100;0;0 1.30 True ENSG00000145016 ENSG00000145016 HGNC:28991 SACS gene SACS Expert list;Expert Review Green Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spastic ataxia, Charlevoix-Saguenay type MIM#270550 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000151835 ENSG00000151835 HGNC:10519 SCN1A gene SCN1A Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208 Ataxia;HP:0001251 27264139;27817982;28732259 False 3 67;33;0 1.30 True ENSG00000144285 ENSG00000144285 HGNC:10585 SCN2A gene SCN2A Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Early infantile epileptic encephalopathy 11, MIM# 613721 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000136531 ENSG00000136531 HGNC:10588 SCN8A gene SCN8A Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epileptic encephalopathy 13, 614558;Cognitive impairment with or without cerebellar ataxia, 614306 Ataxia;HP:0001251 31904124;31887642;31675620 False 3 100;0;0 1.30 True ENSG00000196876 ENSG00000196876 HGNC:10596 SCYL1 gene SCYL1 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 21, 616719;Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy Ataxia;HP:0001251 29419818;17571074;26581903;30531813 False 3 100;0;0 1.30 True ENSG00000142186 ENSG00000142186 HGNC:14372 SETX gene SETX Expert list;Expert Review Green Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM#606002 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000107290 ENSG00000107290 HGNC:445 SIL1 gene SIL1 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Marinesco-Sjogren syndrome, 248800 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000120725 ENSG00000120725 HGNC:24624 SLC13A3 gene SLC13A3 Expert list;Expert Review Green Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384) Ataxia;HP:0001251 https://www.neurology.org/doi/full/10.1212/NXG.0000000000200101 (No PMID) False 3 100;0;0 1.30 True ENSG00000158296 ENSG00000158296 HGNC:14430 SLC17A5 gene SLC17A5 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Salla disease;Sialic acid storage disease, severe infantile type, MIM# 269920 Ataxia;HP:0001251 26171070 False 3 100;0;0 1.30 True ENSG00000119899 ENSG00000119899 HGNC:10933 SLC1A3 gene SLC1A3 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Episodic ataxia, type 6;Episodic ataxia type 6, 612656 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000079215 ENSG00000079215 HGNC:10941 SLC25A46 gene SLC25A46 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Hereditary motor and sensory neuropathy type VIB, MIM#616505;Pontocerebellar hypoplasia, type 1E, MIM# 619303 Ataxia;HP:0001251 30178502;26168012;27543974;27430653;27390132;28934388;28558379 False 3 100;0;0 1.30 True ENSG00000164209 ENSG00000164209 HGNC:25198 SLC2A1 gene SLC2A1 Expert list;Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal dystonia 9;GLUT1 deficiency syndrome 2, 612126;GLUT1 DEFICIENCY SYNDROME 1;paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia;GLUT1 deficiency syndrome 1, 606777;Dystonia 9, 601042;EPILEPSY, IDIOPATHIC GENERALIZED Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000117394 ENSG00000117394 HGNC:11005 SLC44A1 gene SLC44A1 Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Childhood-onset neurodegeneration;progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria Ataxia;HP:0001251 31855247 False 3 100;0;0 1.30 True ENSG00000070214 ENSG00000070214 HGNC:18798 SLC52A2 gene SLC52A2 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Bwon-Vialetto-Van Laere syndrome 2, 614707 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000185803 ENSG00000185803 HGNC:30224 SLC9A6 gene SLC9A6 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric 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) Mental retardation, X-linked syndromic, Christianson type, 300243 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000198689 ENSG00000198689 HGNC:11079 SNAP25 gene SNAP25 Expert list;Expert Review Green;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Myasthenic syndrome, congenital, 18, 616330;cerebellar ataxia and seizures Ataxia;HP:0001251 29491473;25381298;17283335 False 3 100;0;0 1.30 True ENSG00000132639 ENSG00000132639 HGNC:11132 SNX14 gene SNX14 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Autosomal recessive spinocerebellar ataxia 20, 616354;Autosomal recessive spinocerebellar ataxia (#616354) Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000135317 ENSG00000135317 HGNC:14977 SPR gene SPR Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Dopa-responsive dystonia due to sepiaterin reductase deficiency, 612716;Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000116096 ENSG00000116096 HGNC:11257 SPTBN2 gene SPTBN2 Expert list;Expert Review Green Ataxia - paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386;Spinocerebellar ataxia 5, MIM# 600224" Ataxia;HP:0001251 23236289;23838597;22781464;31617442;31066025 False 3 100;0;0 1.30 True ENSG00000173898 ENSG00000173898 HGNC:11276 SQSTM1 gene SQSTM1 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145 Ataxia;HP:0001251 27545679 False 3 100;0;0 1.30 True ENSG00000161011 ENSG00000161011 HGNC:11280 SRD5A3 gene SRD5A3 Expert list;Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Kahrizi syndrome, 612713;Congenital disorder of glycosylation, type Iq, 612379;Congenital disorder of glycosylation type Iq, 612379 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000128039 ENSG00000128039 HGNC:25812 STUB1 gene STUB1 Expert list;Expert Review Green Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768" Ataxia;HP:0001251 25258038;24742043 False 3 100;0;0 1.30 True ENSG00000103266 ENSG00000103266 HGNC:11427 SUFU gene SUFU Expert Review Green;Literature;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted congenital ocular motor apraxia (forme fruste of Joubert syndrome) Ataxia;HP:0001251 33024317 False 3 100;0;0 1.30 True ENSG00000107882 ENSG00000107882 HGNC:16466 SVBP gene SVBP Expert list;Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569 Ataxia;HP:0001251 31363758;30607023 False 3 100;0;0 1.30 True ENSG00000177868 ENSG00000177868 HGNC:29204 SYNE1 gene SYNE1 Expert list;Expert Review Green Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743" Ataxia;HP:0001251 23325900;27086870 False 3 100;0;0 1.30 True ENSG00000131018 ENSG00000131018 HGNC:17089 TBC1D23 gene TBC1D23 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Pontocerebellar hypoplasia type 11, 617695 Ataxia;HP:0001251 28823707;28823706 False 3 100;0;0 1.30 True ENSG00000036054 ENSG00000036054 HGNC:25622 TBCE gene TBCE Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM #617207 Ataxia;HP:0001251 PubMed: 27666369 False 3 100;0;0 1.30 True ENSG00000116957 ENSG00000116957 HGNC:11582 TCTN1 gene TCTN1 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Joubert syndrome 13, MIM# 614173" Ataxia;HP:0001251 31302911;28631893;21725307;26477546;26489806 False 3 100;0;0 1.30 True ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN2 gene TCTN2 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Joubert syndrome 24, MIM# 616654" Ataxia;HP:0001251 25118024;21565611 False 3 100;0;0 1.30 True ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 18, MIM# 614815;Orofaciodigital syndrome IV, MIM# 258860 Ataxia;HP:0001251 22883145;25118024 False 3 100;0;0 1.30 True ENSG00000119977 ENSG00000119977 HGNC:24519 TDP2 gene TDP2 Expert list;Expert Review Green;GeneReviews;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 23 Ataxia;HP:0001251 31410782;30109272;24658003 False 3 100;0;0 1.30 True ENSG00000111802 ENSG00000111802 HGNC:17768 THG1L gene THG1L Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia with developmental delay Ataxia;HP:0001251 27307223;30214071;31168944 False 3 100;0;0 1.30 True ENSG00000113272 ENSG00000113272 HGNC:26053 TINF2 gene TINF2 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autosomal dominant dyskeratosis congenita 3, 613990;Revesz syndrome, 268130 Ataxia;HP:0001251 18252230;21477109;18979121 False 3 100;0;0 1.30 True ENSG00000092330 ENSG00000092330 HGNC:11824 TMEM106B gene TMEM106B Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypomyelinating leukodystrophy 16, 617964 Ataxia;HP:0001251 29186371;29444210 False 3 100;0;0 1.30 True ENSG00000106460 ENSG00000106460 HGNC:22407 TMEM216 gene TMEM216 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Joubert syndrome 2, MIM# 608091" Ataxia;HP:0001251 20036350;20512146 False 3 100;0;0 1.30 True ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM237 gene TMEM237 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Joubert syndrome 14, MIM# 614424" Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM240 gene TMEM240 Expert list;Expert Review Green Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Spinocerebellar ataxia 21, MIM# 607454" Ataxia;HP:0001251 25070513 False 3 100;0;0 1.30 True ENSG00000205090 ENSG00000205090 HGNC:25186 TMEM67 gene TMEM67 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Joubert syndrome 6, MIM# 610688" Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000164953 ENSG00000164953 HGNC:28396 TPP1 gene TPP1 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Autosomal recessive spinocerebellar ataxia 7, 609270;Neuronal ceroid lipofuscinosis, 204500;Spinocerebellar ataxia, autosomal recessive 7, 609270;Ceroid lipofuscinosis, neuronal, 2, 204500 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000166340 ENSG00000166340 HGNC:2073 TSFM gene TSFM Expert Review Green;GeneReviews;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 3 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000123297 ENSG00000123297 HGNC:12367 TTC19 gene TTC19 Expert list;Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency nuclear type II, 615157;Mitochondrial complex III deficiency, nuclear type 2, 615157 Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000011295 ENSG00000011295 HGNC:26006 TTI1 gene TTI1 Expert list;Expert Review Green Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445 Ataxia;HP:0001251 26539891;30315573;36724785 False 3 50;25;25 1.30 True ENSG00000101407 ENSG00000101407 HGNC:29029 TTPA gene TTPA Expert list;Expert Review Green;NHS GMS Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Ataxia with isolated vitamin E deficiency, MIM# 277460" Ataxia;HP:0001251 False 3 100;0;0 1.30 True ENSG00000137561 ENSG00000137561 HGNC:12404 TUBA4A gene TUBA4A Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hereditary ataxia MONDO:0100309, TUBA4A-related Ataxia;HP:0001251 38884572;37418012 False 3 100;0;0 1.30 True Other ENSG00000127824 ENSG00000127824 HGNC:12407 TUBB4A gene TUBB4A Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Leukodystrophy, hypomyelinating, 6, 612438;Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438;Dystonia 4, torsion, autosomal dominant, 128101 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000104833 ENSG00000104833 HGNC:20774 TWNK gene TWNK Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 7, 271245;Ataxia Neuropathy Spectrum Disorders, Dominant;Progressive external ophthalmoplegia with mitochondrial DNA deletions, 609286;Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286;Perrault syndrome 5, 616138;Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245;Spinocerebellar Ataxia, Recessive Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000107815 ENSG00000107815 HGNC:1160 UBTF gene UBTF Expert list;Expert Review Green;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672;MONDO:0044701 Ataxia;HP:0001251 29300972 False 3 100;0;0 1.30 True ENSG00000108312 ENSG00000108312 HGNC:12511 UCHL1 gene UCHL1 Expert list;Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Spastic paraplegia 79, autosomal recessive, MIM#615491;Neurodegenerative disease, MONDO:0005559, UCHL1-related Ataxia;HP:0001251 28007905;23359680;11555633;35986737 False 3 100;0;0 1.30 True ENSG00000154277 ENSG00000154277 HGNC:12513 VLDLR gene VLDLR Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cerebellar ataxia, mental retardation and dysequilibirum syndrome 1, 224050;Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000147852 ENSG00000147852 HGNC:12698 VPS13D gene VPS13D Expert list;Expert Review Green Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317" Ataxia;HP:0001251 29604224;29518281 False 3 100;0;0 1.30 True ENSG00000048707 ENSG00000048707 HGNC:23595 VPS41 gene VPS41 Expert Review Green;Literature Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia-29 (SCAR29), MIM#619389;Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay Ataxia;HP:0001251 32808683;33764426 False 3 100;0;0 1.30 True ENSG00000006715 ENSG00000006715 HGNC:12713 WARS2 gene WARS2 Expert Review;Expert Review Green Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Parkinsonism-dystonia 3, childhood-onset, MIM# 619738;Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710 Ataxia;HP:0001251 29120065;31970218;34890876;28236339;28650581;28905505;30920170 False 3 100;0;0 1.30 True ENSG00000116874 ENSG00000116874 HGNC:12730 WDR73 gene WDR73 Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature;Galloway-Mowat Syndrome 1, 251300 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000177082 ENSG00000177082 HGNC:25928 WDR81 gene WDR81 Expert list;Expert Review Green;Expert Review Red;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Congenital hydrocephalus 3 with brain anomalies, 617967;Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185;Cerebellar ataxia, mental retardation and dysequilibrium syndrome 2, 610185 Ataxia;HP:0001251 21885617;28556411;28969387 False 3 33;0;67 1.30 True ENSG00000167716 ENSG00000167716 HGNC:26600 WFS1 gene WFS1 Expert Review Green;Royal Melbourne Hospital Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Wolfram syndrome 1, 222300 Ataxia;HP:0001251 25211237 False 3 100;0;0 1.30 True ENSG00000109501 ENSG00000109501 HGNC:12762 WWOX gene WWOX Expert Review Green;Royal Melbourne Hospital;Victorian Clinical Genetics Services Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Autosomal recessive spinocerebellar ataxia 12, 6143232;Early infantile epileptic encephalopathy 28, 616211;Autosomal recessive spinocerebellar ataxia 12, 614322 Ataxia;HP:0001251 False 3 100;0;0 1.30 False ENSG00000186153 ENSG00000186153 HGNC:12799 XRCC1 gene XRCC1 Expert list;Expert Review Green Ataxia - paediatric Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Spinocerebellar ataxia, autosomal recessive 26 MIM#617633 Ataxia;HP:0001251 28002403;29472272 False 3 100;0;0 1.30 True ENSG00000073050 ENSG00000073050 HGNC:12828