Ataxia_Superpanel (Version 3.224)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 340 Entitiess
Green Green List (high evidence)	AAAS Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Victorian Clinical Genetics Services Phenotypes Achalasia-addisonianism-alacrimia syndrome MIM#231550 Tags
Green Green List (high evidence)	ABCB7 Ataxia v1.162	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Anemia, sideroblastic, with ataxia Sideroblastic Anemia and Ataxia Anemia, sideroblast with ataxia, 300135 Tags
Green Green List (high evidence)	ABCD1 Ataxia v1.162	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Royal Melbourne Hospital Expert list Expert Review Green Expert list Phenotypes Adrenoleukodystrophy Tags
Green Green List (high evidence)	ABHD12 Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674 Tags
Green Green List (high evidence)	ACBD6 Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785 Tags
Green Green List (high evidence)	ACO2 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital GeneReviews Phenotypes Infantile cerebellar-retinal degeneration, MIM#614559 Tags
Green Green List (high evidence)	ADGRG1 Ataxia v1.162	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Polymicrogyria, Frontoparietal, 606854 Polymicrogyria, perisylvian type, 615752 Tags
Green Green List (high evidence)	ADPRHL2 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Neurodegeneration, childhood-onset, stress-induced with variable ataxia and seizures, 618170 Tags new gene name
Green Green List (high evidence)	AFG3L2 Ataxia v1.162	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Spastic ataxia 5, autosomal recessive MIM#614487 Spinocerebellar ataxia 28 MIM#610246 Tags
Green Green List (high evidence)	AGTPBP1 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Neurodegeneration, childhood-onset, with cerebellar atrophy, MONDO:0032650 Tags
Green Green List (high evidence)	AHI1 Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Joubert syndrome 3 Tags
Green Green List (high evidence)	ALDH5A1 Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Royal Melbourne Hospital Phenotypes Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Tags
Green Green List (high evidence)	ANO10 Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 10 MIM#613728 Tags
Green Green List (high evidence)	AP1S2 Ataxia v1.162	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Pettigrew syndrome, MIM# 304340 Tags
Green Green List (high evidence)	APTX Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ataxia, early-onset, with oculomotor apraxia and hypoalbuminaemia MIM#208920 Tags
Green Green List (high evidence)	ARL13B Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 8, MIM# 612291 Tags
Green Green List (high evidence)	ARSA Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Metachromatic Leukodystrophy, 250100 Metachromatic leukodystrophy (#250100) Tags clinical trial treatable
Green Green List (high evidence)	ATCAY Ataxia v1.162	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ataxia, cerebellar, Cayman type, MIM# 601238 MONDO:0011025 Tags
Green Green List (high evidence)	ATG7 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia, SCAR31, MIM#619422 Tags
Green Green List (high evidence)	ATM Ataxia v1.162	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Ataxia-telangiectasia MIM#208900 Tags
Green Green List (high evidence)	ATN1_DRPLA_CAG STR Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert List Phenotypes Dentatorubral-pallidoluysian atrophy MIM#125370 Tags
Green Green List (high evidence)	ATP13A2 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Expert Review Green Literature Phenotypes Kufor-Rakeb syndrome MIM#606693 Tags
Green Green List (high evidence)	ATP1A3 Ataxia v1.162	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Phenotypes ATP1A3-associated neurological disorder, MONDO:0700002 Tags
Green Green List (high evidence)	ATP2B2 Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental Disorder, MONDO:0700092, ATP2B2-related Tags
Green Green List (high evidence)	ATP6V0A1 Ataxia v1.162	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Developmental and epileptic encephalopathy 104 MIM#619970 Neurodevelopmental disorder with epilepsy and brain atrophy MIM#619971 Tags
Green Green List (high evidence)	ATP8A2 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert list Victorian Clinical Genetics Services Phenotypes Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268 Tags
Green Green List (high evidence)	ATXN10_SCA10_ATTCT STR Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert List Phenotypes Spinocerebellar ataxia 10 MIM#603516 Tags
Green Green List (high evidence)	ATXN1_SCA1_CAG STR Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert List Phenotypes Spinocerebellar ataxia 1 MIM#164400 Tags
Green Green List (high evidence)	ATXN2_SCA2_CAG STR Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia type 2 MONDO:0008458 Tags
Green Green List (high evidence)	ATXN3_SCA3_CAG STR Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert List Phenotypes Machado-Joseph disease MIM#109150 Spinocerebellar ataxia type 3 Tags
Green Green List (high evidence)	ATXN7_SCA7_CAG STR Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert List Phenotypes Spinocerebellar ataxia 7 MIM#164500 Tags
Green Green List (high evidence)	ATXN8OS_SCA8_CTG STR Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert List Phenotypes Spinocerebellar ataxia 8 MIM#608768 Tags
Green Green List (high evidence)	BBS1 Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 1, 209900 Tags
Green Green List (high evidence)	BCKDHB Ataxia v1.162	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert list Phenotypes Episodic ataxia during metabolic crises paroxysmal nonkinesigenic dyskinesia Tags treatable
Green Green List (high evidence)	BEAN1_SCA31_TGGAA STR Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert List Phenotypes Spinocerebellar ataxia 31 MIM#117210 Tags
Green Green List (high evidence)	BRAT1 Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cerebellar atrophy and with or without seizures, MIM#618056 Tags
Green Green List (high evidence)	C5orf42 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 17, MIM# 614615 Tags
Green Green List (high evidence)	CA8 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert list Victorian Clinical Genetics Services Phenotypes Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227 Tags
Green Green List (high evidence)	CACNA1A Ataxia v1.162	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Episodic ataxia, type 2 MIM#108500 Tags STR
Green Green List (high evidence)	CACNA1A_SCA6_CAG STR Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert List Phenotypes Spinocerebellar ataxia 6 MIM#183086 Episodic ataxia, type 2 MIM#108500 Tags
Green Green List (high evidence)	CACNA1G Ataxia v1.162	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits MIM#618087 Tags
Green Green List (high evidence)	CACNA2D2 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar atrophy with seizures and variable developmental delay MIM#618501 Tags
Green Green List (high evidence)	CAD Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Expert list Phenotypes Epileptic encephalopathy, early infantile, 50 OMIM # 616457 Tags
Green Green List (high evidence)	CAMTA1 Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Cerebellarataxia, nonprogressive, with mental retardation, 614756 Cerebellar ataxia with mental retardation, 614756 Tags
Green Green List (high evidence)	CAPRIN1 Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Childhood Dementia Myoclonus-Ataxia Sensorimotor Neuropathy cerebellar atrophy cortical atrophy Tags
Green Green List (high evidence)	CASK Ataxia v1.162	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Phenotypes FG syndrome 4, 300422 Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749 Tags
Green Green List (high evidence)	CBY1 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes intellectual disability cerebellar ataxia molar tooth sign polydactyly Joubert syndrome Tags
Green Green List (high evidence)	CC2D2A Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 9 Tags
Green Green List (high evidence)	CEP290 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 5 Tags
Green Green List (high evidence)	CEP41 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 15 Tags
Green Green List (high evidence)	CLCN2 Ataxia v1.162	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Royal Melbourne Hospital Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes {Epilepsy, juvenile absence, susceptibility to, 2}, 607628 Leukoencephalopathy with ataxia, 615651 {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 Tags
Green Green List (high evidence)	CLN5 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ceroid lipofuscinosis neuronal 5, MIM# 256731 Tags
Green Green List (high evidence)	CLN6 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Phenotypes Ceroid neuronal lipofuscinosis 6, 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 Ceroid neuronal lipofuscinosis kufs type, 204300 Ceroid lipofuscinosis, neuronal, 6, 601780 Tags
Green Green List (high evidence)	CLPP Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Perrault syndrome 3, MIM# 614129 Tags
Green Green List (high evidence)	COA7 Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387 Tags
Green Green List (high evidence)	COQ4 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Coenzyme Q10 deficiency, primary, 7, MIM# 616276 Childhood-onset ataxia Tags treatable
Green Green List (high evidence)	COQ5 Ataxia v1.162	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 9 MIM#619028 Tags
Green Green List (high evidence)	COQ8A Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Phenotypes Primary coenzyme Q10 deficiency 4, 612016 Spinocerebellar Ataxia Type Coenzyme Q10 deficiency, primary 4, 612016 Tags treatable
Green Green List (high evidence)	COX20 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, 220110 Mitochondrial complex IV deficiency Tags
Green Green List (high evidence)	CP Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Aceruloplasminemia, 604290 Cerebellar ataxia, 604290 Hemosiderosis, systemic, due to aceruloplasminemia, 604290 Tags
Green Green List (high evidence)	CSF1R Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Expert Review Green Expert Review Green Literature Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids MIM#221820 ataxia Tags
Green Green List (high evidence)	CSNK2B Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Poirier-Bienvenu neurodevelopmental syndrome , MIM#618732 Tags
Green Green List (high evidence)	CSTB Ataxia v1.162	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), MIM#254800 Tags 5'UTR STR
Green Green List (high evidence)	CSTB_EPM1_CCCCGCCCCGCG STR Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert Review Green Expert Review Green Literature Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800 Tags STR
Green Green List (high evidence)	CTBP1 Ataxia v1.162	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, MIM#617915 Tags
Green Green List (high evidence)	CWF19L1 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 17, 616127 Autosomal recessive spinocerebellar ataxia type 17, 616127 Tags
Green Green List (high evidence)	CYP27A1 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Royal Melbourne Hospital Expert Review Green Phenotypes Cerebrotendinous xanthomatosis, 213700 Tags
Green Green List (high evidence)	DAB1_SCA37_ATTTC STR Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Phenotypes Spinocerebellar ataxia 37 MIM#615945 Tags STR
Green Green List (high evidence)	DAGLA Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neuroocular syndrome 2, paroxysmal type, MIM# 168885 Tags
Green Green List (high evidence)	DARS2 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105 Tags
Green Green List (high evidence)	DDHD2 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Tags
Green Green List (high evidence)	DHDDS Ataxia v1.162	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental delay and seizures with or without movement abnormalities, OMIM:617836 Tags
Green Green List (high evidence)	DNAJC19 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes 3-methylglutaconic aciduria, type V 610198 dilated cardiomyopathy with ataxia (DCMA) syndrome 3-methylglutaconic aciduria type V, 610198 Tags
Green Green List (high evidence)	DNAJC5 Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083 Tags
Green Green List (high evidence)	DNMT1 Ataxia v1.162	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green ClinGen Literature Phenotypes Hereditary sensory neuropathy-deafness-dementia syndrome, MONDO:0013584 Tags
Green Green List (high evidence)	DOCK3 Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292 Tags
Green Green List (high evidence)	EBF3 Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Hypotonia, ataxia and delayed development syndrome, 617330 Tags
Green Green List (high evidence)	EEFSEC Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with progressive spasticity and brain abnormalities, MIM#621102 Tags
Green Green List (high evidence)	EIF2B1 Ataxia v1.162	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter MIM#603896 Tags
Green Green List (high evidence)	EIF2B2 Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter MIM#603896 Tags
Green Green List (high evidence)	EIF2B3 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with vanishing white matter MIM#603896 Tags
Green Green List (high evidence)	EIF2B4 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with vanishing white matter MIM#603896 Tags
Green Green List (high evidence)	EIF2B5 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy with vanishing white matter MIM#603896 Tags
Green Green List (high evidence)	ELFN1 Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Dursun-Ozgul neurodevelopmental syndrome, MIM# 621344 Tags
Green Green List (high evidence)	ELOVL4 Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Expert Review Green Royal Melbourne Hospital Expert Review Green Phenotypes Spinocerebellar ataxia 34 133190 Spinocerebellar ataxia 34, 133190 Tags
Green Green List (high evidence)	ELOVL5 Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Phenotypes Spinocerebellar ataxia 38, MIM#615957 Tags
Green Green List (high evidence)	EPM2A Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Phenotypes Progressive myoclonic epilepsy 2A, Lafora, 254780 Epilepsy, progressive myoclonic 2A (Lafora) 254780 Tags
Green Green List (high evidence)	ERCC4 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Cerebellar ataxia Xeroderma pigmentosum, group F, MIM# 278760 Tags
Green Green List (high evidence)	ESRRG Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Phenotypes Movement disorder, MONDO:0005395, ESRRG-related Tags
Green Green List (high evidence)	EXOSC5 Ataxia v1.162	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576 Short stature Motor developmental delays Cerebellar hypoplasia Ataxia Tags
Green Green List (high evidence)	FA2H Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic paraplegia 35, autosomal recessive MIM#612319 Tags
Green Green List (high evidence)	FAT2 Ataxia v1.162	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources GeneReviews Royal Melbourne Hospital Expert list Expert list Expert Review Green Expert Review Green Expert Review Green Expert Review Green Expert list Expert list Royal Melbourne Hospital GeneReviews Phenotypes Spinocerebellar ataxia 45, MIM#617769 Tags
Green Green List (high evidence)	FBXL4 Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), MIM# 615471 Tags
Green Green List (high evidence)	FDXR Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887 Tags
Green Green List (high evidence)	FGF14 Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 27 MIM#609307 Tags
Green Green List (high evidence)	FGF14_SCA27B_GAA STR Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Phenotypes Spinocerebellar ataxia type 27B MONDO:0012247 Spinocerebellar ataxia 50 late-onset cerebellar ataxias (LOCAs) Tags
Green Green List (high evidence)	FLVCR1 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ataxia, posterior column, with retinitis pigmentosa MIM#609033 Tags
Green Green List (high evidence)	FMR1_FXTAS_CGG STR Ataxia v1.162	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Fragile X tremor/ataxia syndrome MIM#300623 Tags STR
Green Green List (high evidence)	FOLR1 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodegeneration due to cerebral folate transport deficiency, 613068 Neurodegeneration due to cerebral folate transport deficiency Tags
Green Green List (high evidence)	FRMD5 Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with eye movement abnormalities and ataxia, MIM# 620094 Tags
Green Green List (high evidence)	FXN Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Friedreich ataxia MIM#229300 Tags STR
Green Green List (high evidence)	FXN_FRDA_GAA STR Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Friedreich ataxia MIM#229300 Tags STR
Green Green List (high evidence)	GBA2 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 46, autosomal recessive, MIM# 614409 MONDO:0013737 Tags
Green Green List (high evidence)	GDAP2 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert list Expert Review Green Expert Review Green Expert list Phenotypes Autosomal recessive spinocerebellar ataxia Tags
Green Green List (high evidence)	GEMIN5 Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM # 619333 Tags
Green Green List (high evidence)	GFAP Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Alexander disease, 203450 Autosomal Dominant Ataxia Alexander disease Tags
Green Green List (high evidence)	GJC2 Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypomyelinating leukodystrophy 2, 608804 Leukodystrophy, hypomyelinating, 2 Autosomal Recessive Ataxia Spastic paraplegia 44, 613206 Tags
Green Green List (high evidence)	GOSR2 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 6, 614018 Progressive myoclonic epilepsy 6, 614018 Tags
Green Green List (high evidence)	GPAA1 Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Royal Melbourne Hospital Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 Tags
Green Green List (high evidence)	GRID2 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 18, 616204 Tags
Green Green List (high evidence)	GRM1 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 13 Spinocerebellar ataxia 44, 617691, autosomal recessive spinocerebellar ataxia type 13, 614831 Tags
Green Green List (high evidence)	GSS Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Royal Melbourne Hospital Phenotypes Gluthathione synthetase deficiency, MIM# 266130 Tags
Green Green List (high evidence)	HEXA Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes GM2-gangliosidosis, several forms, 272800 Tay-Sachs disease, 272800 Tags
Green Green List (high evidence)	HEXB Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, 268800 Sandhoff disease, 268800 Tags
Green Green List (high evidence)	INPP5E Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 1 Tags
Green Green List (high evidence)	IRF2BPL Ataxia v1.162	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neurodevelopmental disorder with regression, abnormal movement, loss of speech and seizures, 618088 Tags
Green Green List (high evidence)	Angelman and Prader-Willi syndromes ISCA-37404-Loss Region Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert list Expert list Phenotypes Angelman syndrome, MIM# 105830 Prader-Willi syndrome, MIM# 176270 Tags SV/CNV
Green Green List (high evidence)	NPHP1 deletion ISCA-37405-Loss Region Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Phenotypes Nephronophthisis 1, juvenile, MIM# 256100 Joubert syndrome 4, MIM# 609583 Senior-Loken syndrome 1, MIM# 266900 Tags SV/CNV
Green Green List (high evidence)	ITM2B Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Cerebellar ataxia, cataract, deafness, and dementia or psychosis Danish familial dementia Tags
Green Green List (high evidence)	ITPR1 Ataxia v1.162	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 15 MIM#606658 Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360 Tags
Green Green List (high evidence)	KCNA1 Ataxia v1.162	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes EPISODIC ATAXIA, TYPE 1 myokymia with periodic ataxia Episodic ataxia/myokymia syndrome, 160120 Episodic ataxia/myokymia syndrome Tags
Green Green List (high evidence)	KCNA2 Ataxia v1.162	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Early infantile encephalopathy 32, 616366 Tags
Green Green List (high evidence)	KCNC3 Ataxia v1.162	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 13 MIM#605259 Tags
Green Green List (high evidence)	KCND3 Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Spinocerebellar ataxia 19, MIM# 607346 Tags
Green Green List (high evidence)	KCNJ10 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome SESAME syndrome, 612780 Tags
Green Green List (high evidence)	KCNN2 Ataxia v1.162	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without variable movement or behavioural abnormalities, MIM#619725 Tags
Green Green List (high evidence)	KIF1C Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic ataxia 2, autosomal recessive MIM#611302 Tags
Green Green List (high evidence)	KIF7 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Koubert syndrome 12 Acrocallosal syndrome, Schinzel type Tags
Green Green List (high evidence)	LAMA1 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital GeneReviews Phenotypes Poretti-Boltshauser syndrome Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Tags
Green Green List (high evidence)	LARS2 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Perrault syndrome 4 Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021 Leukodystrophy Tags
Green Green List (high evidence)	LETM1 Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Phenotypes Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089 Tags
Green Green List (high evidence)	LMNB1 Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert list Expert Review Green Expert Review Green Expert Review Green Expert list Phenotypes Leukodystrophy, adult-onset, autosomal dominant MIM#169500 Tags SV/CNV
Green Green List (high evidence)	MAG Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 75, autosomal recessive, MIM# 616680 Cerebellar ataxia Oculomotor apraxia Tags
Green Green List (high evidence)	MARS2 Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Australian Genomics Health Alliance Mitochondrial Flagship Victorian Clinical Genetics Services Phenotypes Spastic ataxia 3, autosomal recessive MIM#611390 Tags SV/CNV
Green Green List (high evidence)	MKS1 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 28 Tags
Green Green List (high evidence)	MMACHC Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Royal Melbourne Hospital Expert Review Green Phenotypes Methylmalonic aciduria and homocystinuria cblC type, 277400 Methylmalonic aciduria and homocystinuria, cblC type, 277400 Ataxia and hypogonadism Tags treatable
Green Green List (high evidence)	MORC2 Ataxia v1.162	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Axonal type CMT disease type 2Z, 616688 Cerebellar ataxia Tags
Green Green List (high evidence)	MRE11 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Ataxia-Telangiectasia-Like Disorder Ataxia-telangiectasia-like disorder 1, 604391 Tags
Green Green List (high evidence)	MSTO1 Ataxia v1.162	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Myopathy, mitochondrial, and ataxia MIM#617675 Tags
Green Green List (high evidence)	MT-ATP6 Ataxia v1.162	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Phenotypes Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related Tags mtDNA
Green Green List (high evidence)	MT-CO1 Ataxia v1.162	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Phenotypes Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO1-related Tags mtDNA
Green Green List (high evidence)	MT-CO2 Ataxia v1.162	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Phenotypes Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related Tags mtDNA
Green Green List (high evidence)	MT-CYB Ataxia v1.162	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Phenotypes mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CYB-related Tags mtDNA
Green Green List (high evidence)	MT-ND4 Ataxia v1.162	1 review 1 green	MITOCHONDRIAL	Sources Expert Review Green Expert list Expert list Phenotypes Mitochondrial disease (MONDO:0044970), MT-ND4-related Tags mtDNA
Green Green List (high evidence)	MTCL1 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes slowly progressive cerebellar ataxia, mild intellectual disability, seizures in childhood and episodic pain in the lower limbs Tags
Green Green List (high evidence)	MTFMT Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Combined oxidative phosphorylation deficiency 15 MIM#614947 Mitochondrial complex I deficiency, nuclear type 27 MIM#618248 Tags
Green Green List (high evidence)	MTTP Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Abetalipoproteinemia, 200100 Abetalipoproteinemia Tags treatable
Green Green List (high evidence)	MVK Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mevalonic aciduria 610377 Tags
Green Green List (high evidence)	NHLRC1 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Progressive myoclonic epilepsy 2B, Lafora, 254780 Epilepsy, progressive myoclonic 2B (Lafora) 254780 Tags
Green Green List (high evidence)	NKX2-1 Ataxia v1.162	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978 Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978 Chorea, hereditary benign 118700 Hereditary bening chorea, 118700 Tags
Green Green List (high evidence)	NKX6-2 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Autosomal recessive spastic ataxia 8 with hypomyelinating leukodystrophy, 617560 Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560 Tags
Green Green List (high evidence)	NOP56_SCA36_GGCCTG STR Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 36 MIM#614153 Tags STR
Green Green List (high evidence)	NOVA2 Ataxia v1.162	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Literature Phenotypes Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM #618859 Tags
Green Green List (high evidence)	NPC1 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Niemann-Pick disease type C1, 257220 Niemann-Pick disease types C1 and D (#257220) Tags
Green Green List (high evidence)	NPC2 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Niemann-Pick disease type C2, 607625 Niemann-Pick disease type C2 (#607625) Tags
Green Green List (high evidence)	NPHP1 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 4 Tags
Green Green List (high evidence)	NPTX1 Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Phenotypes cerebellar ataxia MONDO#0000437, NPTX1-related Tags
Green Green List (high evidence)	NUBPL Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mitochondrial complex I deficiency, nuclear type 21, OMIM # 618242 Tags
Green Green List (high evidence)	NUS1 Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Epilepsy, myoclonus, ataxia and scoliosis Mental retardation, autosomal dominant 55, with seizures, 617831 Tags
Green Green List (high evidence)	OFD1 Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Joubert syndrome 10 Tags
Green Green List (high evidence)	OPA1 Ataxia v1.162	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes OPA1-related optic atrophy with or without extraocular features, MONDO:0800181 Tags
Green Green List (high evidence)	OPA3 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes 3-methylglutaconic aciduria, type III, 258501 Optic atrophy 3 with cataract, 165300 3-methylglutaconic aciduria type III, 258501 Costeff syndrome Tags
Green Green List (high evidence)	OPHN1 Ataxia v1.162	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance, 300486 Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 Tags
Green Green List (high evidence)	PDE1B Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Complex neurodevelopmental disorder with motor features, MONDO:0100516, PDE1B-related Tags
Green Green List (high evidence)	PDYN Ataxia v1.162	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Royal Melbourne Hospital Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 23 Spinocerebellar ataxia 23, 610245 Tags
Green Green List (high evidence)	PEX16 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Zellweger syndrome (614876) Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis Peroxisome biogenesis disorder 8A, 614876 Peroxisome biogenesis disorder 8B, 614877 Tags
Green Green List (high evidence)	PEX7 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital GeneReviews Phenotypes Refsum disease Peroxisome biogenesis disorder 9B, MIM#614879 Tags
Green Green List (high evidence)	PHYH Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital GeneReviews Phenotypes Refsum disease, MIM# 266500 Tags
Green Green List (high evidence)	PIGS Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Expert Review Phenotypes Developmental and epileptic encephalopathy 95, OMIM # 618143 Tags
Green Green List (high evidence)	PITRM1 Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Expert list Phenotypes Spinocerebellar ataxia-30 (SCAR30), MIM#619405 intellectual disability cognitive decline psychosis Tags
Green Green List (high evidence)	PLA2G6 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes 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 Tags
Green Green List (high evidence)	PMPCA Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive 2, MIM# 213200 Tags
Green Green List (high evidence)	PMPCB Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Multiple mitochondrial dysfunctions syndrome 6, 617954 Tags
Green Green List (high evidence)	PNKD Ataxia v1.162	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Paroxysmal nonkinesigenic dyskinesia 1, 118800 Tags
Green Green List (high evidence)	PNKP Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Microcephaly, seizures and developmental delay, 613402 Ataxia-oculomotor apraxia 4, 616267 Ataxia with oculomotor apraxia 4 (#616267) Tags
Green Green List (high evidence)	PNPLA6 Ataxia v1.162	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Boucher-Neuhauser syndrome MIM#215470 Laurence-Moon syndrome MIM#245800 Oliver-McFarlane syndrome MIM#275400 Spastic paraplegia 39, autosomal recessive MIM#612020 Tags
Green Green List (high evidence)	PNPT1 Ataxia v1.162	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Phenotypes Spinocerebellar ataxia 25, MIM# 608703 Tags
Green Green List (high evidence)	POLG Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes 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 Tags
Green Green List (high evidence)	POLR3A Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes POLR3A-related disorder MONDO:0700276 Tags
Green Green List (high evidence)	POLR3B Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital GeneReviews Phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM#614381 Tags
Green Green List (high evidence)	POU4F1 Ataxia v1.162	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Ataxia intention tremor hypotonia Tags
Green Green List (high evidence)	PPP2R2B_SCA12_CAG STR Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 12 MIM#604326 Tags
Green Green List (high evidence)	PRDX3 Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Cerebellar ataxia MONDO:0000437, PRDX3-related Tags
Green Green List (high evidence)	PRNP Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Royal Melbourne Hospital Phenotypes Multiple allelic disorders reported Huntington disease-like 1 Autosomal Dominant Ataxia Gerstmann-Straussler disease Insomnia, fatal familial Creutzfeldt-Jakob disease Tags
Green Green List (high evidence)	PRNP_CJD_octapeptide STR Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Phenotypes Creutzfeldt-Jakob disease MIM#123400 Gerstmann-Straussler disease MIM#137440 Tags
Green Green List (high evidence)	PRRT2 Ataxia v1.162	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes PRRT2-associated paroxysmal movement disorder MONDO:0100556 Tags
Green Green List (high evidence)	PTRH2 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Infantile multi-system neurologic, endocrine, and pancreatic disease, 616263 Tags
Green Green List (high evidence)	PUM1 Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Royal Melbourne Hospital Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 47, 617931 Tags
Green Green List (high evidence)	RAB3A Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes autosomal dominant cerebellar ataxia MONDO:0020380 Tags
Green Green List (high evidence)	RFC1 Ataxia v1.162	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Expert list Expert Review Green Expert Review Green Expert list Literature Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575 Tags STR
Green Green List (high evidence)	RFC1_CANVAS_ANNGN STR Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575 Tags STR
Green Green List (high evidence)	RNF170 Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Phenotypes Ataxia, sensory, 1, autosomal dominant, MIM# 608984 Tags
Green Green List (high evidence)	RNF216 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840 Tags
Green Green List (high evidence)	RNF220 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Tags founder
Green Green List (high evidence)	RORA Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, 618060 Tags
Green Green List (high evidence)	RPGRIP1L Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 7, MIM# 611560 Tags
Green Green List (high evidence)	RUBCN Ataxia v1.162	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Victorian Clinical Genetics Services Royal Melbourne Hospital Clinical Genetics Department Phenotypes Spinocerebellar ataxia, autosomal recessive 15, MIM#615705 Tags
Green Green List (high evidence)	SACS Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spastic ataxia, Charlevoix-Saguenay type MIM#270550 Tags
Green Green List (high evidence)	SAMD9L Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Green Expert Review Green Phenotypes Spinocerebellar ataxia 49, MIM# 619806 Ataxia-pancytopaenia syndrome, MIM# 159550 Tags
Green Green List (high evidence)	SCN1A Ataxia v1.162	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208 Tags
Green Green List (high evidence)	SCN2A Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Early infantile epileptic encephalopathy 11, MIM# 613721 Tags
Green Green List (high evidence)	SCN8A Ataxia v1.162	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Epileptic encephalopathy 13, 614558 Cognitive impairment with or without cerebellar ataxia, 614306 Tags
Green Green List (high evidence)	SCYL1 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive 21, 616719 Early-onset ataxia (<1 year) with recurrent episodes of liver failure, sensory-motor axonal neuropathy, cerebellar atrophy Tags
Green Green List (high evidence)	SETX Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM#606002 Tags
Green Green List (high evidence)	SIL1 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes Marinesco-Sjogren syndrome, 248800 Tags
Green Green List (high evidence)	SKOR2 Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Valence-Farazi cerebellar ataxia syndrome, MIM# 621386 Tags
Green Green List (high evidence)	SLC13A3 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384) Tags
Green Green List (high evidence)	SLC17A5 Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Salla disease Sialic acid storage disease, severe infantile type, MIM# 269920 Tags
Green Green List (high evidence)	SLC1A3 Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Episodic ataxia, type 6 Episodic ataxia type 6, 612656 Tags
Green Green List (high evidence)	SLC25A46 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hereditary motor and sensory neuropathy type VIB, MIM#616505 Pontocerebellar hypoplasia, type 1E, MIM# 619303 Tags
Green Green List (high evidence)	SLC2A1 Ataxia v1.162	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Tags
Green Green List (high evidence)	SLC44A1 Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Childhood-onset neurodegeneration progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria Tags
Green Green List (high evidence)	SLC52A2 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Bwon-Vialetto-Van Laere syndrome 2, 614707 Tags
Green Green List (high evidence)	SLC9A1 Ataxia v1.162	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Lichtenstein-Knorr Syndrome, MIM# 616291 Tags
Green Green List (high evidence)	SLC9A6 Ataxia v1.162	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 Tags
Green Green List (high evidence)	SNAP25 Ataxia v1.162	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes ?Myasthenic syndrome, congenital, 18, 616330 cerebellar ataxia and seizures Tags
Green Green List (high evidence)	SNX14 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Autosomal recessive spinocerebellar ataxia 20, 616354 Autosomal recessive spinocerebellar ataxia (#616354) Tags
Green Green List (high evidence)	SPG7 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Green Royal Melbourne Hospital Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia Autosomal recessive spastic paraplegia 7, 607259 Tags
Green Green List (high evidence)	SPR Ataxia v1.162	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Dopa-responsive dystonia due to sepiaterin reductase deficiency, 612716 Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716 Tags
Green Green List (high evidence)	SPTAN1 Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia MONDO:0957813 Tags
Green Green List (high evidence)	SPTBN2 Ataxia v1.162	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386 Spinocerebellar ataxia 5, MIM# 600224 Tags
Green Green List (high evidence)	SQSTM1 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145 Tags
Green Green List (high evidence)	SRD5A3 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Kahrizi syndrome, 612713 Congenital disorder of glycosylation, type Iq, 612379 Congenital disorder of glycosylation type Iq, 612379 Tags
Green Green List (high evidence)	STUB1 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768 Tags
Green Green List (high evidence)	SUFU Ataxia v1.162	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Joubert syndrome 32, MIM#617757 Neurodevelopmental disorder, MONDO:0700092, SUFU-related Tags
Green Green List (high evidence)	SVBP Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Literature Phenotypes Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569 Tags founder
Green Green List (high evidence)	SYNE1 Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743 Tags
Green Green List (high evidence)	TBC1D23 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Pontocerebellar hypoplasia type 11, 617695 Tags
Green Green List (high evidence)	TBCE Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM #617207 Tags
Green Green List (high evidence)	TBP_SCA17_CAG STR Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 17 MIM#607136 Tags STR
Green Green List (high evidence)	TCTN1 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 13, MIM# 614173 Tags
Green Green List (high evidence)	TCTN2 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 24, MIM# 616654 Tags
Green Green List (high evidence)	TCTN3 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 18, MIM# 614815 Orofaciodigital syndrome IV, MIM# 258860 Tags
Green Green List (high evidence)	TDP2 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital GeneReviews Phenotypes Spinocerebellar ataxia, autosomal recessive 23 Tags
Green Green List (high evidence)	TINF2 Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Autosomal dominant dyskeratosis congenita 3, 613990 Revesz syndrome, 268130 Tags
Green Green List (high evidence)	TMEM106B Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hypomyelinating leukodystrophy 16, 617964 Tags
Green Green List (high evidence)	TMEM216 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 2, MIM# 608091 Tags
Green Green List (high evidence)	TMEM237 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 14, MIM# 614424 Tags
Green Green List (high evidence)	TMEM240 Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia 21, MIM# 607454 Tags
Green Green List (high evidence)	TMEM67 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Joubert syndrome 6, MIM# 610688 Tags
Green Green List (high evidence)	TPP1 Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Autosomal recessive spinocerebellar ataxia 7, 609270 Neuronal ceroid lipofuscinosis, 204500 Spinocerebellar ataxia, autosomal recessive 7, 609270 Ceroid lipofuscinosis, neuronal, 2, 204500 Tags
Green Green List (high evidence)	TSFM Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital GeneReviews Phenotypes Combined oxidative phosphorylation deficiency 3 Tags
Green Green List (high evidence)	TTBK2 Ataxia v1.162	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Expert Review Green Royal Melbourne Hospital Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 11, 604432 Spinocerebellar ataxia 11 Tags
Green Green List (high evidence)	TTC19 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Mitochondrial complex III deficiency nuclear type II, 615157 Mitochondrial complex III deficiency, nuclear type 2, 615157 Tags
Green Green List (high evidence)	TTI1 Ataxia v1.162	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445 Tags
Green Green List (high evidence)	TTPA Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Ataxia with isolated vitamin E deficiency, MIM# 277460 Tags
Green Green List (high evidence)	TUBA4A Ataxia v1.162	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spastic ataxia 11, autosomal dominant, MIM# 621226 Tags
Green Green List (high evidence)	TUBB4A Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukodystrophy, hypomyelinating, 6, 612438 Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438 Dystonia 4, torsion, autosomal dominant, 128101 Tags
Green Green List (high evidence)	TWNK Ataxia v1.162	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Green Phenotypes 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 Tags
Green Green List (high evidence)	UBTF Ataxia v1.162	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672 MONDO:0044701 Tags
Green Green List (high evidence)	UCHL1 Ataxia v1.162	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Royal Melbourne Hospital Phenotypes Spastic paraplegia 79, autosomal recessive, MIM#615491 Neurodegenerative disease, MONDO:0005559, UCHL1-related Tags
Green Green List (high evidence)	VLDLR Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebellar ataxia, mental retardation and dysequilibirum syndrome 1, 224050 Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 Tags
Green Green List (high evidence)	VPS13D Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317 Tags
Green Green List (high evidence)	VPS41 Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia-29 (SCAR29), MIM#619389 Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay Tags
Green Green List (high evidence)	WARS2 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Parkinsonism-dystonia 3, childhood-onset, MIM# 619738 Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710 Tags
Green Green List (high evidence)	WDR73 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature Galloway-Mowat Syndrome 1, 251300 Tags
Green Green List (high evidence)	WDR81 Ataxia v1.162	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Expert list Expert Review Green Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes 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 Tags
Green Green List (high evidence)	WFS1 Ataxia v1.162	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Wolfram syndrome 1, 222300 Tags
Green Green List (high evidence)	WWOX Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Expert Review Green Victorian Clinical Genetics Services Phenotypes Autosomal recessive spinocerebellar ataxia 12, 6143232 Early infantile epileptic encephalopathy 28, 616211 Autosomal recessive spinocerebellar ataxia 12, 614322 Tags
Green Green List (high evidence)	XRCC1 Ataxia v1.162	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Spinocerebellar ataxia, autosomal recessive 26 MIM#617633 Tags founder
Green Green List (high evidence)	ZFHX3_SCA4_GGC STR Ataxia v1.162	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Expert Review Green Literature Phenotypes spinocerebellar ataxia type 4 MONDO:0010847 Tags
Amber Amber List (moderate evidence)	ACBD5 Ataxia v1.162	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes Leukodystrophy syndromic cleft palate ataxia retinal dystrophy Tags
Amber Amber List (moderate evidence)	ATG5 Ataxia v1.162	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes ?Spinocerebellar ataxia, autosomal recessive 25 Tags
Amber Amber List (moderate evidence)	ATP2B3 Ataxia v1.162	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Amber Expert list Expert Review Amber Royal Melbourne Hospital GeneReviews Phenotypes Spinocerebellar ataxia, X-linked 1 Tags
Amber Amber List (moderate evidence)	CAPN1 Ataxia v1.162	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert list Expert Review Green Expert Review Green Expert list Expert Review Amber Expert list Phenotypes Spastic paraplegia 76, autosomal recessive, 616907 MONDO:0014827 Tags
Amber Amber List (moderate evidence)	CCDC88C Ataxia v1.162	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services GeneReviews Royal Melbourne Hospital Expert Review Amber Expert Review Amber Victorian Clinical Genetics Services Phenotypes autosomal dominant spinocerebellar ataxia ?Spinocerebellar ataxia 40, 616053 Tags
Amber Amber List (moderate evidence)	CHP1 Ataxia v1.162	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spastic ataxia 9, autosomal recessive, OMIM #618438 Tags
Amber Amber List (moderate evidence)	HARS Ataxia v1.162	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes multisystem ataxic syndrome Tags
Amber Amber List (moderate evidence)	KCNQ2 Ataxia v1.162	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Royal Melbourne Hospital Phenotypes Early infantile encephalopathy 7, 613720 Myokymia, 121200 Tags
Amber Amber List (moderate evidence)	MAPK8IP3 Ataxia v1.162	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Royal Melbourne Hospital Phenotypes Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431 Tags
Amber Amber List (moderate evidence)	MKKS Ataxia v1.162	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert list Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 6, 605231 Tags
Amber Amber List (moderate evidence)	MT-TC Ataxia v1.162	1 review	MITOCHONDRIAL	Sources Expert Review Amber Expert list Expert list Phenotypes Mitochondrial disease (MONDO:0044970), MT-TC-related Tags mtDNA
Amber Amber List (moderate evidence)	MTPAP Ataxia v1.162	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes ?Ataxia, spastic, 4, Autosomal recessive spastic ataxia 4, 613672 Tags
Amber Amber List (moderate evidence)	PCNA Ataxia v1.162	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber ClinGen Phenotypes hereditary ataxia MONDO:0100309 Tags
Amber Amber List (moderate evidence)	PLD3 Ataxia v1.162	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources GeneReviews Royal Melbourne Hospital Expert Review Amber Expert Review Amber Royal Melbourne Hospital GeneReviews Phenotypes ?Spinocerebellar ataxia 46 Tags
Amber Amber List (moderate evidence)	PRKCG Ataxia v1.162	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Phenotypes Spinocerebellar ataxia 14, MIM# 605361 Tags
Amber Amber List (moderate evidence)	PRPS1 Ataxia v1.162	2 reviews	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Literature Expert Review Amber Expert Review Amber Literature Phenotypes Adult-onset progressive ataxia, congenital strabismus, infantile-onset hearing loss, retinal dystrophy Tags
Amber Amber List (moderate evidence)	RFXANK Ataxia v1.162	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Progressive Ataxia and Neurologic Regression MHC class II deficiency, complementation group B MIM#209920 Tags
Amber Amber List (moderate evidence)	SDHA Ataxia v1.162	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Expert Review Amber Expert list Phenotypes Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259 Tags
Amber Amber List (moderate evidence)	SIDT2 Ataxia v1.162	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Lysosomal storage disease, MONDO:0002561, SIDT2-related Tags
Amber Amber List (moderate evidence)	SYNGAP1 Ataxia v1.162	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Autosomal dominant mental retardation 5, 612621 Tags
Amber Amber List (moderate evidence)	TDP1 Ataxia v1.162	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Amber Expert Review Amber Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250 Tags founder
Amber Amber List (moderate evidence)	THAP11_SCA51_CAG STR Ataxia v1.162	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Amber Expert Review Amber Literature Phenotypes Spinocerebellar ataxia 51 MONDO:0975800 Tags
Amber Amber List (moderate evidence)	THG1L Ataxia v1.162	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive 28, MIM# 618800 Tags founder
Amber Amber List (moderate evidence)	TMEM138 Ataxia v1.162	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Joubert syndrome 16, MIM# 614465 Tags
Amber Amber List (moderate evidence)	TMEM231 Ataxia v1.162	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Joubert syndrome 20, MIM# 614970 Meckel syndrome 11 615397 Tags
Amber Amber List (moderate evidence)	TRPC3 Ataxia v1.162	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources GeneReviews Royal Melbourne Hospital Expert Review Amber Expert Review Amber Royal Melbourne Hospital GeneReviews Tags
Amber Amber List (moderate evidence)	UBA5 Ataxia v1.162	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital GeneReviews Phenotypes ?Autosomal recessive spinocerebellar ataxia 24, 617133 Early infantile epileptic encephalopathy 44, 617132 Tags
Amber Amber List (moderate evidence)	UBR4 Ataxia v1.162	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes ?Episodic ataxia Episodic ataxia type 8, 616055 Tags
Amber Amber List (moderate evidence)	VAMP1 Ataxia v1.162	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Amber Expert Review Amber Phenotypes Autosomal dominant spastic ataxia 1, 108600 Spastic ataxia 1, autosomal dominant, 108600 Tags founder
Amber Amber List (moderate evidence)	VRK1 Ataxia v1.162	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Pontocerebellar hypoplasia type 1A, 607596 Tags
Amber Amber List (moderate evidence)	ZFYVE26 Ataxia v1.162	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Amber Expert Review Amber Royal Melbourne Hospital Phenotypes Autosomal recessive spastic paraplegia 15, 270700 Tags
Red Red List (low evidence)	AMPD2 Ataxia v1.162	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Other Expert Review Red Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 9, 615809 Tags
Red Red List (low evidence)	ARL6 Ataxia v1.162	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 3, 600151 Tags
Red Red List (low evidence)	ARMC9 Ataxia v1.162	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Royal Melbourne Hospital Phenotypes Joubert syndrome 30, MIM#617622 Tags
Red Red List (low evidence)	ATP1A2 Ataxia v1.162	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Royal Melbourne Hospital Expert Review Red Expert Review Red Royal Melbourne Hospital Phenotypes Alternating hemiplegia of childhood 1, 104290 Familial hemiplegic migraine 2, 602481 Tags
Red Red List (low evidence)	ATP7B Ataxia v1.162	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Royal Melbourne Hospital Expert Review Red Phenotypes Wilson disease 277900 Wilson disease, 277900 Tags
Red Red List (low evidence)	BBS10 Ataxia v1.162	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 10, 615987 Tags
Red Red List (low evidence)	BBS12 Ataxia v1.162	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 12, 615989 Tags
Red Red List (low evidence)	BBS2 Ataxia v1.162	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 2, 615981 Tags
Red Red List (low evidence)	BBS4 Ataxia v1.162	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 4, 615982 Tags
Red Red List (low evidence)	BBS5 Ataxia v1.162	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 5, 615983 Tags
Red Red List (low evidence)	BBS7 Ataxia v1.162	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 7, 615984 Tags
Red Red List (low evidence)	BBS9 Ataxia v1.162	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 9, 615986 Tags
Red Red List (low evidence)	CACNB4 Ataxia v1.162	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Royal Melbourne Hospital Expert list Expert Review Red Expert Review Red Expert list Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Episodic ataxia type 5, 613855 Tags
Red Red List (low evidence)	CCDC28B Ataxia v1.162	3 reviews 2 red	Other	Sources Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes {Bardet-Biedl syndrome 1, modifier of}, 209900 Tags
Red Red List (low evidence)	CHCHD10 Ataxia v1.162	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Red Expert Review Red Literature Phenotypes autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532 Tags
Red Red List (low evidence)	CHMP1A Ataxia v1.162	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 8, 614961 Tags
Red Red List (low evidence)	CYP2U1 Ataxia v1.162	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 56, autosomal recessive, 615030 Tags
Red Red List (low evidence)	DAB1 Ataxia v1.162	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Neurodevelopmental disorder, MONDO:0700092, DAB1-related Tags
Red Red List (low evidence)	EEF2 Ataxia v1.162	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services GeneReviews Royal Melbourne Hospital Expert Review Red Expert Review Red Victorian Clinical Genetics Services Phenotypes ?Spinocerebellar ataxia 26 Tags
Red Red List (low evidence)	ELOVL1 Ataxia v1.162	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Expert list Expert list Victorian Clinical Genetics Services Phenotypes Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, 618527 Tags
Red Red List (low evidence)	EXOSC3 Ataxia v1.162	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 1B, 614678 Tags
Red Red List (low evidence)	HARS2 Ataxia v1.162	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Perrault syndrome 2, MIM# 614926 Tags
Red Red List (low evidence)	IFRD1 Ataxia v1.162	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Literature Expert Review Red Expert Review Expert Review Red Expert Review Red Expert Review Expert Review Red Literature Phenotypes Hereditary spastic paraplegia MONDO:0019064, IFRD1-related Tags
Red Red List (low evidence)	MME Ataxia v1.162	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Red GeneReviews Royal Melbourne Hospital Expert Review Green Royal Melbourne Hospital GeneReviews Expert Review Red Phenotypes ?Spinocerebellar ataxia type 43, 617018 Tags
Red Red List (low evidence)	NOL3 Ataxia v1.162	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Royal Melbourne Hospital Expert Review Red Expert Review Red Royal Melbourne Hospital Phenotypes Myoclonus, familial cortical Tags
Red Red List (low evidence)	PAX6 Ataxia v1.162	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Aniridia, 106210 Aniridia, Cerebellar Ataxia, And Mental Retardation Tags
Red Red List (low evidence)	PCDH12 Ataxia v1.162	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Royal Melbourne Hospital GeneReviews Victorian Clinical Genetics Services Phenotypes cerebellar ataxia, dystonia, retinopathy, and dysmorphism Tags
Red Red List (low evidence)	PCYT2 Ataxia v1.162	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes global developmental delay regression spastic parapesis or tetraparesis epilepsy progressive cerebral and cerebellar atrophy Tags
Red Red List (low evidence)	PIK3R5 Ataxia v1.162	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Literature Victorian Clinical Genetics Services Phenotypes Ataxia-oculomotor apraxia 3, OMIM #615217 Tags disputed
Red Red List (low evidence)	PRICKLE1 Ataxia v1.162	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Progressive myoclonic epilepsy 1B, 612437 Progressive Myoclonus Epilepsy with Ataxia Tags disputed
Red Red List (low evidence)	RARS2 Ataxia v1.162	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Pontocerebellar hypoplasia, type 6, 611523 early onset cerebellar ataxia Tags
Red Red List (low evidence)	SAR1B Ataxia v1.162	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Chylomicron retention disease, 246700 Tags
Red Red List (low evidence)	SEPSECS Ataxia v1.162	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert list Expert Review Red Expert Review Red Expert list Phenotypes Pontocerebellar hypoplasia type 2D, 613811 cerebellar ataxia and cognitive impairment Tags
Red Red List (low evidence)	SLC27A3 Ataxia v1.162	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Literature Phenotypes Inherited neurodegenerative disorder, MONDO:0024237, SLC27A3-related Tags
Red Red List (low evidence)	SYT14 Ataxia v1.162	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Victorian Clinical Genetics Services Expert Review Red GeneReviews Royal Melbourne Hospital Expert Review Red Expert Review Red Victorian Clinical Genetics Services Phenotypes ?Spinocerebellarataxia,autosomalrecessive11,614229 Tags
Red Red List (low evidence)	TGM6 Ataxia v1.162	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Victorian Clinical Genetics Services Royal Melbourne Hospital Expert Review Red Expert Review Red Expert Review Red Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 35, 613908 Spinocerebellar ataxia 35 Tags refuted
Red Red List (low evidence)	TPR Ataxia v1.162	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Intellectual developmental disorder, autosomal recessive 79, MIM# 620393 Tags
Red Red List (low evidence)	TRIM32 Ataxia v1.162	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110 ?Bardet-Biedl syndrome 11, 615988 Tags
Red Red List (low evidence)	TSEN2 Ataxia v1.162	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Expert list Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 2B, 612389 Tags
Red Red List (low evidence)	TSEN34 Ataxia v1.162	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Expert list Victorian Clinical Genetics Services Phenotypes ?Pontocerebellar hypoplasia type 2C, 612390 Tags
Red Red List (low evidence)	TSEN54 Ataxia v1.162	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Expert list Expert list Expert Review Red Expert list Phenotypes adult-onset cerebellar ataxia Tags
Red Red List (low evidence)	TTC8 Ataxia v1.162	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 8, 615985 Tags
Red Red List (low evidence)	TUBA1A Ataxia v1.162	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Lissencephaly 3, 611603 Tags
Red Red List (low evidence)	TUBB2A Ataxia v1.162	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes ?progressive spastic ataxia syndrome resembling sacsinopathy Complex cortical dysplasia with other brain malformations 5, 615763 Tags
Red Red List (low evidence)	VWA3B Ataxia v1.162	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources GeneReviews Royal Melbourne Hospital Expert Review Red Expert Review Red Royal Melbourne Hospital GeneReviews Phenotypes ?Spinocerebellar ataxia, autosomal recessive 22 Tags
Red Red List (low evidence)	WDPCP Ataxia v1.162	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes ?Bardet-Biedl syndrome 15, 615992 ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Tags
Red Red List (low evidence)	ZNF423 Ataxia v1.162	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Nephronophthisis 14 Tags
Red Red List (low evidence)	ZNF592 Ataxia v1.162	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive 5 Galloway-Mowat Syndrome 1, 251300 Tags

Ataxia_Superpanel (Version 3.224)

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