Ataxia (Version 1.203)

Description

This panel contains genes that cause conditions where ataxia is a prominent feature of the phenotype. This is a consensus panel used and maintained by RMH and VCGS.

Panel Activity

37 reviewers

Zornitza Stark (Victorian Clinical Genetics Services)
Sebastian Lunke (Victorian Clinical Genetics Services)
Chirag Patel (Genetic Health Queensland)
Bryony Thompson (Royal Melbourne Hospital)
Sue White (Victorian Clinical Genetics Services)
Alison Yeung (Victorian Clinical Genetics Services)
Andrew Fennell (Monash Genetics)
Dean Phelan (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
Kristin Rigbye (Victorian Clinical Genetics Services)
Anna Ritchie (Victorian Clinical Genetics Services)
Teresa Zhao (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Ee Ming Wong (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Eunice Chan (Royal Children's Hospital)
Hazel Phillimore (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Daniel Flanagan (Victorian Clinical Genetics Services)
Seb Lunke (Victorian Clinical Genetics Services)
Eleanor Williams (Genomics England)
Sarah Leigh (Genomics England)
Arina Puzriakova (Genomics England)
Krithika Murali (Pathology Queensland)
Samantha Ayres (Victorian Clinical Genetics Services)
Danielle Ariti (University of Melbourne)
Lucy Spencer (Victorian Clinical Genetics Services)
Belinda Chong (Victorian Clinical Genetics Services)
Manny Jacobs (Victorian Clinical Genetics Services)
Shekeeb Mohammad (Children's Hospital at Westmead)
Achchuthan Shanmugasundram (Genomics England)
Sangavi Sivagnanasundram (Melbourne Health)
Chris Ciotta (Victorian Clinical Genetics Services)
Boris Keren (L'Hôpital Universitaire Pitié Salpêtrière)
Sarah Milton (Victorian Clinical Genetics Services)

352 Entities

351 reviewed, 273 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 352 Entitiess
Green Green List (high evidence)	AAAS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Achalasia-addisonianism-alacrimia syndrome MIM#231550 Tags
Green Green List (high evidence)	ABCB7	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 Victorian Clinical Genetics Services Phenotypes Anaemia, sideroblastic, with ataxia, MIM# 301310 Tags
Green Green List (high evidence)	ABCD1	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 Royal Melbourne Hospital Phenotypes Adrenoleukodystrophy MIM# 300100, XLR Tags
Green Green List (high evidence)	ABHD12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674 Tags
Green Green List (high evidence)	ACBD6	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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green GeneReviews Royal Melbourne Hospital Phenotypes Infantile cerebellar-retinal degeneration, MIM#614559 Tags
Green Green List (high evidence)	ADGRG1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Polymicrogyria, Frontoparietal, 606854 Polymicrogyria, perisylvian type, 615752 Tags
Green Green List (high evidence)	ADPRHL2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green 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	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic ataxia 5, autosomal recessive MIM#614487 Spinocerebellar ataxia 28 MIM#610246 Tags
Green Green List (high evidence)	AGTPBP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Neurodegeneration, childhood-onset, with cerebellar atrophy, MONDO:0032650 Tags
Green Green List (high evidence)	AHI1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Joubert syndrome 3 Tags
Green Green List (high evidence)	ALDH5A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Royal Melbourne Hospital Phenotypes Succinic semialdehyde dehydrogenase deficiency, MIM# 271980 Tags
Green Green List (high evidence)	ANO10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 10 MIM#613728 Tags
Green Green List (high evidence)	AP1S2	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Pettigrew syndrome, MIM# 304340 Tags
Green Green List (high evidence)	APTX	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	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	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	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	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	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Ataxia-telangiectasia MIM#208900 Tags
Green Green List (high evidence)	ATN1_DRPLA_CAG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green Phenotypes Dentatorubral-pallidoluysian atrophy MIM#125370 Tags
Green Green List (high evidence)	ATP13A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Kufor-Rakeb syndrome MIM#606693 Tags
Green Green List (high evidence)	ATP1A3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes ATP1A3-associated neurological disorder, MONDO:0700002 Tags
Green Green List (high evidence)	ATP2B2	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)	ATP2B3	2 reviews 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 GeneReviews Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, X-linked 1 Tags
Green Green List (high evidence)	ATP6V0A1	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green 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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital 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	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green Phenotypes Spinocerebellar ataxia 10 MIM#603516 Tags
Green Green List (high evidence)	ATXN1_SCA1_CAG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green Phenotypes Spinocerebellar ataxia 1 MIM#164400 Tags
Green Green List (high evidence)	ATXN2_SCA2_CAG STR	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	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green Phenotypes Machado-Joseph disease MIM#109150 Spinocerebellar ataxia type 3 Tags
Green Green List (high evidence)	ATXN7_SCA7_CAG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green Phenotypes Spinocerebellar ataxia 7 MIM#164500 Tags
Green Green List (high evidence)	ATXN8OS_SCA8_CTG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green Phenotypes Spinocerebellar ataxia 8 MIM#608768 Tags
Green Green List (high evidence)	BBS1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 1, 209900 Tags
Green Green List (high evidence)	BCKDHB	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Episodic ataxia during metabolic crises paroxysmal nonkinesigenic dyskinesia Tags treatable
Green Green List (high evidence)	BEAN1_SCA31_TGGAA STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green Phenotypes Spinocerebellar ataxia 31 MIM#117210 Tags
Green Green List (high evidence)	BRAT1	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	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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital 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	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Episodic ataxia, type 2 MIM#108500 Tags STR
Green Green List (high evidence)	CACNA1A_SCA6_CAG STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert List Expert Review Green Phenotypes Spinocerebellar ataxia 6 MIM#183086 Episodic ataxia, type 2 MIM#108500 Tags
Green Green List (high evidence)	CACNA1G	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits MIM#618087 Tags
Green Green List (high evidence)	CACNA2D2	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	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Epileptic encephalopathy, early infantile, 50 OMIM # 616457 Tags
Green Green List (high evidence)	CAMTA1	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	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	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 Phenotypes FG syndrome 4, 300422 Intellectual developmental disorder and microcephaly with pontine and cerebellar hypoplasia MIM#300749 Tags
Green Green List (high evidence)	CBY1	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	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Joubert syndrome 9, MIM#612285 Tags
Green Green List (high evidence)	CD99L2	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 Literature Phenotypes Neurodevelopmental disorder, MONDO:0700092 CD99L2-related Tags
Green Green List (high evidence)	CEP290	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Joubert syndrome 5, MIM# 610188 Tags
Green Green List (high evidence)	CEP41	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Joubert syndrome 15, MIM# 614464 Tags
Green Green List (high evidence)	CLCN2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with ataxia, MIM# 615651 Tags
Green Green List (high evidence)	CLN5	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	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ceroid lipofuscinosis, neuronal, 6, MIM# 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, MIM# 204300 Tags
Green Green List (high evidence)	CLPP	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	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387 Tags
Green Green List (high evidence)	COQ4	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	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 9 MIM#619028 Tags
Green Green List (high evidence)	COQ8A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Coenzyme Q10 deficiency, primary, 4 MIM#612016 Tags treatable
Green Green List (high evidence)	COX20	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mitochondrial complex IV deficiency, 220110 Mitochondrial complex IV deficiency Tags
Green Green List (high evidence)	CP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Aceruloplasminemia, 604290 Cerebellar ataxia, 604290 Hemosiderosis, systemic, due to aceruloplasminemia, 604290 Tags
Green Green List (high evidence)	CSF1R	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Leukoencephalopathy, diffuse hereditary, with spheroids MIM#221820 ataxia Tags
Green Green List (high evidence)	CSNK2B	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	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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) MIM#254800 Tags STR
Green Green List (high evidence)	CTBP1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, MIM#617915 Tags
Green Green List (high evidence)	CWF19L1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital 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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Royal Melbourne Hospital Phenotypes Cerebrotendinous xanthomatosis, 213700 Tags
Green Green List (high evidence)	DAB1_SCA37_ATTTC STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia 37 MIM#615945 Tags STR
Green Green List (high evidence)	DAGLA	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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital 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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital 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	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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital 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)	DNAJC3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome, MONDO:0014523 Tags
Green Green List (high evidence)	DNAJC5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Ceroid lipofuscinosis, neuronal, 4 (Kufs type), MONDO:0008083 Tags
Green Green List (high evidence)	DNMT1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources ClinGen Expert Review Green Literature Phenotypes Hereditary sensory neuropathy-deafness-dementia syndrome, MONDO:0013584 Tags
Green Green List (high evidence)	DOCK3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292 Tags
Green Green List (high evidence)	EBF3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Hypotonia, ataxia and delayed development syndrome, 617330 Tags
Green Green List (high evidence)	EEFSEC	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	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter MIM#603896 Tags
Green Green List (high evidence)	EIF2B2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter MIM#603896 Tags
Green Green List (high evidence)	EIF2B3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter MIM#603896 Tags
Green Green List (high evidence)	EIF2B4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter MIM#603896 Tags
Green Green List (high evidence)	EIF2B5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukoencephalopathy with vanishing white matter MIM#603896 Tags
Green Green List (high evidence)	ELFN1	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	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia 34 133190 Spinocerebellar ataxia 34, 133190 Tags
Green Green List (high evidence)	ELOVL5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia 38, MIM#615957 Tags
Green Green List (high evidence)	EPM2A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Progressive myoclonic epilepsy 2A, Lafora, 254780 Epilepsy, progressive myoclonic 2A (Lafora) 254780 Tags
Green Green List (high evidence)	ERCC4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebellar ataxia Xeroderma pigmentosum, group F, MIM# 278760 Tags
Green Green List (high evidence)	ESRRG	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Movement disorder, MONDO:0005395, ESRRG-related Tags
Green Green List (high evidence)	EXOSC5	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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spastic paraplegia 35, autosomal recessive MIM#612319 Tags
Green Green List (high evidence)	FAT2	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green GeneReviews Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia 45, MIM#617769 Tags
Green Green List (high evidence)	FBXL4	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	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	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 27 MIM#609307 Tags
Green Green List (high evidence)	FGF14_SCA27B_GAA STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources 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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Ataxia, posterior column, with retinitis pigmentosa MIM#609033 Tags
Green Green List (high evidence)	FMR1_FXTAS_CGG STR	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 Phenotypes Fragile X tremor/ataxia syndrome MIM#300623 Tags STR
Green Green List (high evidence)	FOLR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital 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	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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Friedreich ataxia MIM#229300 Tags STR
Green Green List (high evidence)	FXN_FRDA_GAA STR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Friedreich ataxia MIM#229300 Tags STR
Green Green List (high evidence)	GBA2	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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Autosomal recessive spinocerebellar ataxia Tags
Green Green List (high evidence)	GEMIN5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM # 619333 Tags
Green Green List (high evidence)	GFAP	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	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital 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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Epilepsy, progressive myoclonic 6, 614018 Progressive myoclonic epilepsy 6, 614018 Tags
Green Green List (high evidence)	GPAA1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Glycosylphosphatidylinositol biosynthesis defect 15, 617810 Tags
Green Green List (high evidence)	GRID2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive 18, 616204 Tags
Green Green List (high evidence)	GRM1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive 13 Spinocerebellar ataxia 44, 617691, autosomal recessive spinocerebellar ataxia type 13, 614831 Tags
Green Green List (high evidence)	GSS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Royal Melbourne Hospital Phenotypes Gluthathione synthetase deficiency, MIM# 266130 Tags
Green Green List (high evidence)	HEXA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes GM2-gangliosidosis, several forms, 272800 Tay-Sachs disease, 272800 Tags
Green Green List (high evidence)	HEXB	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Sandhoff disease, infantile, juvenile, and adult forms, 268800 Sandhoff disease, 268800 Tags
Green Green List (high evidence)	INPP5E	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Joubert syndrome 1 Tags
Green Green List (high evidence)	IRF2BPL	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	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Angelman syndrome, MIM# 105830 Prader-Willi syndrome, MIM# 176270 Tags SV/CNV
Green Green List (high evidence)	NPHP1 deletion ISCA-37405-Loss Region	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green 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	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources 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	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 15 MIM#606658 Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360 Tags
Green Green List (high evidence)	KCNA1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources 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	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Early infantile encephalopathy 32, 616366 Tags
Green Green List (high evidence)	KCNC3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 13 MIM#605259 Tags
Green Green List (high evidence)	KCND3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Spinocerebellar ataxia 19, MIM# 607346 Tags
Green Green List (high evidence)	KCNJ10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital 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	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	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spastic ataxia 2, autosomal recessive MIM#611302 Tags
Green Green List (high evidence)	KIF7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Koubert syndrome 12 Acrocallosal syndrome, Schinzel type Tags
Green Green List (high evidence)	LAMA1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green GeneReviews Royal Melbourne Hospital Phenotypes Poretti-Boltshauser syndrome Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome Tags
Green Green List (high evidence)	LARS2	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	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources 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	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukodystrophy, adult-onset, autosomal dominant MIM#169500 Tags SV/CNV
Green Green List (high evidence)	MAG	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	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Australian Genomics Health Alliance Mitochondrial Flagship Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic ataxia 3, autosomal recessive MIM#611390 Tags SV/CNV
Green Green List (high evidence)	MKS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Joubert syndrome 28 Tags
Green Green List (high evidence)	MMACHC	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Royal Melbourne Hospital 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	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Axonal type CMT disease type 2Z, 616688 Cerebellar ataxia Tags
Green Green List (high evidence)	MRE11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Ataxia-Telangiectasia-Like Disorder Ataxia-telangiectasia-like disorder 1, 604391 Tags
Green Green List (high evidence)	MSTO1	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, mitochondrial, and ataxia MIM#617675 Tags
Green Green List (high evidence)	MT-ATP6	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial complex V (ATP synthase) deficiency, MONDO:0014471, MT-ATP6-related Tags mtDNA
Green Green List (high evidence)	MT-CO1	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO1-related Tags mtDNA
Green Green List (high evidence)	MT-CO2	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CO2-related Tags mtDNA
Green Green List (high evidence)	MT-CYB	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes mitochondrial respiratory chain complex deficiency, MONDO:0000066, MT-CYB-related Tags mtDNA
Green Green List (high evidence)	MT-ND4	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial disease (MONDO:0044970), MT-ND4-related Tags mtDNA
Green Green List (high evidence)	MT-TE	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial disease (MONDO:0044970), MT-TE-related Tags mtDNA
Green Green List (high evidence)	MT-TG	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial disease (MONDO:0044970), MT-TG-related Tags mtDNA
Green Green List (high evidence)	MT-TH	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial disease (MONDO:0044970), MT-TH-related Tags mtDNA
Green Green List (high evidence)	MT-TS2	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial disease (MONDO:0044970), MT-TS2-related Tags mtDNA
Green Green List (high evidence)	MT-TV	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial disease (MONDO:0044970), MT-TV-related Tags mtDNA
Green Green List (high evidence)	MT-TW	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial disease (MONDO:0044970), MT-TW-related Tags mtDNA
Green Green List (high evidence)	MT-TY	1 review 1 green	MITOCHONDRIAL	Sources Expert list Expert Review Green Phenotypes Mitochondrial disease (MONDO:0044970), MT-TY-related Tags mtDNA
Green Green List (high evidence)	MTCL1	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	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green 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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Abetalipoproteinemia, 200100 Abetalipoproteinemia Tags treatable
Green Green List (high evidence)	MVK	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mevalonic aciduria 610377 Tags
Green Green List (high evidence)	NHLRC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital 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	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources 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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital 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	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 36 MIM#614153 Tags STR
Green Green List (high evidence)	NOVA2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources 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	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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Niemann-Pick disease type C2, 607625 Niemann-Pick disease type C2 (#607625) Tags
Green Green List (high evidence)	NPHP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Joubert syndrome 4 Tags
Green Green List (high evidence)	NPTX1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes cerebellar ataxia MONDO#0000437, NPTX1-related Tags
Green Green List (high evidence)	NUBPL	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	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	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Joubert syndrome 10 Tags
Green Green List (high evidence)	OPA1	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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital 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	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 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	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	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 23 Spinocerebellar ataxia 23, 610245 Tags
Green Green List (high evidence)	PEX16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital 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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green GeneReviews Royal Melbourne Hospital Phenotypes Refsum disease Peroxisome biogenesis disorder 9B, MIM#614879 Tags
Green Green List (high evidence)	PHYH	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green GeneReviews Royal Melbourne Hospital Phenotypes Refsum disease, MIM# 266500 Tags
Green Green List (high evidence)	PIGS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 95, OMIM # 618143 Tags
Green Green List (high evidence)	PITRM1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Spinocerebellar ataxia-30 (SCAR30), MIM#619405 intellectual disability cognitive decline psychosis Tags
Green Green List (high evidence)	PLA2G6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green 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	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	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	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Paroxysmal nonkinesigenic dyskinesia 1, 118800 Tags
Green Green List (high evidence)	PNKP	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	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green 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	5 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia 25, MIM# 608703 Tags
Green Green List (high evidence)	POLG	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green 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	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	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green GeneReviews Royal Melbourne Hospital Phenotypes Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM#614381 Tags
Green Green List (high evidence)	POU4F1	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	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 12 MIM#604326 Tags
Green Green List (high evidence)	PRDX3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar ataxia MONDO:0000437, PRDX3-related Tags
Green Green List (high evidence)	PRNP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources 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	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Creutzfeldt-Jakob disease MIM#123400 Gerstmann-Straussler disease MIM#137440 Tags
Green Green List (high evidence)	PRRT2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes PRRT2-associated paroxysmal movement disorder MONDO:0100556 Tags
Green Green List (high evidence)	PTRH2	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	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 47, 617931 Tags
Green Green List (high evidence)	RAB3A	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia 52, MIM# 621535 Tags
Green Green List (high evidence)	RFC1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575 Tags STR
Green Green List (high evidence)	RFC1_CANVAS_ANNGN STR	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575 Tags STR
Green Green List (high evidence)	RNF170	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ataxia, sensory, 1, autosomal dominant, MIM# 608984 Tags
Green Green List (high evidence)	RNF216	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840 Tags
Green Green List (high evidence)	RNF220	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	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	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	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Royal Melbourne Hospital Clinical Genetics Department Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 15, MIM#615705 Tags
Green Green List (high evidence)	SACS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spastic ataxia, Charlevoix-Saguenay type MIM#270550 Tags
Green Green List (high evidence)	SAMD9L	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia 49, MIM# 619806 Ataxia-pancytopaenia syndrome, MIM# 159550 Tags
Green Green List (high evidence)	SCN1A	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	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	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	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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM#606002 Tags
Green Green List (high evidence)	SIL1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Marinesco-Sjogren syndrome, 248800 Tags
Green Green List (high evidence)	SKOR2	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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384) Tags
Green Green List (high evidence)	SLC17A5	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	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Episodic ataxia, type 6 Episodic ataxia type 6, 612656 Tags
Green Green List (high evidence)	SLC25A46	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	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital 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	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Childhood-onset neurodegeneration progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria Tags
Green Green List (high evidence)	SLC52A2	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	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	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 Victorian Clinical Genetics Services Phenotypes Mental retardation, X-linked syndromic, Christianson type, 300243 Tags
Green Green List (high evidence)	SNAP25	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes ?Myasthenic syndrome, congenital, 18, 616330 cerebellar ataxia and seizures Tags
Green Green List (high evidence)	SNX14	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Autosomal recessive spinocerebellar ataxia 20, 616354 Autosomal recessive spinocerebellar ataxia (#616354) Tags
Green Green List (high evidence)	SPG7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital 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	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	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	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386 Spinocerebellar ataxia 5, MIM# 600224 Tags
Green Green List (high evidence)	SQSTM1	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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green 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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768 Tags
Green Green List (high evidence)	SUFU	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Joubert syndrome 32, MIM#617757 Neurodevelopmental disorder, MONDO:0700092, SUFU-related Tags
Green Green List (high evidence)	SVBP	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Phenotypes Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, 618569 Tags founder
Green Green List (high evidence)	SYNE1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743 Tags
Green Green List (high evidence)	TBC1D23	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	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	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 17 MIM#607136 Tags STR
Green Green List (high evidence)	TCTN1	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	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	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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green GeneReviews Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive 23 Tags
Green Green List (high evidence)	TINF2	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	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	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	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	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 21, MIM# 607454 Tags
Green Green List (high evidence)	TMEM67	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	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital 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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green GeneReviews Royal Melbourne Hospital Phenotypes Combined oxidative phosphorylation deficiency 3 Tags
Green Green List (high evidence)	TTBK2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 11, 604432 Spinocerebellar ataxia 11 Tags
Green Green List (high evidence)	TTC19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green 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	4 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445 Tags
Green Green List (high evidence)	TTPA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Ataxia with isolated vitamin E deficiency, MIM# 277460 Tags
Green Green List (high evidence)	TUBA4A	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	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital 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	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital 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	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672 MONDO:0044701 Tags
Green Green List (high evidence)	UCHL1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Spastic paraplegia 79, autosomal recessive, MIM#615491 Neurodegenerative disease, MONDO:0005559, UCHL1-related Tags
Green Green List (high evidence)	UNC13A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurodevelopmental disorder with speech delay, movement abnormalities, and seizures, MIM# 621456 Tags
Green Green List (high evidence)	VLDLR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital 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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317 Tags
Green Green List (high evidence)	VPS41	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)	VWA3B	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green GeneReviews Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive 22 MIM#616948 Tags
Green Green List (high evidence)	WARS2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green 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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital 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	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Red Royal Melbourne Hospital 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	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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital 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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia, autosomal recessive 26 MIM#617633 Tags founder
Green Green List (high evidence)	ZFHX3_SCA4_GGC STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes spinocerebellar ataxia type 4 MONDO:0010847 Tags
Amber Amber List (moderate evidence)	ACBD5	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert Review Green Victorian Clinical Genetics Services Phenotypes Leukodystrophy syndromic cleft palate ataxia retinal dystrophy Tags
Amber Amber List (moderate evidence)	ATG5	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)	C17orf80	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Mitochondrial disease, MONDO:0044970 Tags new gene name
Amber Amber List (moderate evidence)	CAPN1	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert Review Green Phenotypes Spastic paraplegia 76, autosomal recessive, 616907 MONDO:0014827 Tags
Amber Amber List (moderate evidence)	CCDC88C	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber GeneReviews Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes autosomal dominant spinocerebellar ataxia ?Spinocerebellar ataxia 40, 616053 Tags
Amber Amber List (moderate evidence)	CHP1	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	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes multisystem ataxic syndrome Tags
Amber Amber List (moderate evidence)	KCNQ2	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Royal Melbourne Hospital Phenotypes Early infantile encephalopathy 7, 613720 Myokymia, 121200 Tags
Amber Amber List (moderate evidence)	MAPK8IP3	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	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert Review Green Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 6, 605231 Tags
Amber Amber List (moderate evidence)	MT-TC	1 review	MITOCHONDRIAL	Sources Expert list Expert Review Amber Phenotypes Mitochondrial disease (MONDO:0044970), MT-TC-related Tags mtDNA
Amber Amber List (moderate evidence)	MTPAP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes ?Ataxia, spastic, 4, Autosomal recessive spastic ataxia 4, 613672 Tags
Amber Amber List (moderate evidence)	PCNA	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources ClinGen Expert Review Amber Phenotypes hereditary ataxia MONDO:0100309 Tags
Amber Amber List (moderate evidence)	PLD3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber GeneReviews Royal Melbourne Hospital Phenotypes ?Spinocerebellar ataxia 46 Tags
Amber Amber List (moderate evidence)	PRKCG	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Spinocerebellar ataxia 14, MIM# 605361 Tags
Amber Amber List (moderate evidence)	PRPS1	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 Literature Phenotypes Adult-onset progressive ataxia, congenital strabismus, infantile-onset hearing loss, retinal dystrophy Tags
Amber Amber List (moderate evidence)	RFXANK	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	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259 Tags
Amber Amber List (moderate evidence)	SIDT2	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	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	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 1 , MIM# 607250 Tags founder
Amber Amber List (moderate evidence)	THAP11_SCA51_CAG STR	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Spinocerebellar ataxia 51 MONDO:0975800 Tags
Amber Amber List (moderate evidence)	THG1L	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	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	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	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber GeneReviews Royal Melbourne Hospital Tags
Amber Amber List (moderate evidence)	UBA5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber GeneReviews Royal Melbourne Hospital Phenotypes ?Autosomal recessive spinocerebellar ataxia 24, 617133 Early infantile epileptic encephalopathy 44, 617132 Tags
Amber Amber List (moderate evidence)	UBR4	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	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Autosomal dominant spastic ataxia 1, 108600 Spastic ataxia 1, autosomal dominant, 108600 Tags founder
Amber Amber List (moderate evidence)	VRK1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Pontocerebellar hypoplasia type 1A, 607596 Tags
Amber Amber List (moderate evidence)	ZFYVE26	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Autosomal recessive spastic paraplegia 15, 270700 Tags
Red Red List (low evidence)	AMPD2	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red Other Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 9, 615809 Tags
Red Red List (low evidence)	ARL6	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 3, 600151 Tags
Red Red List (low evidence)	ARMC9	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	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources 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	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Wilson disease 277900 Wilson disease, 277900 Tags
Red Red List (low evidence)	BBS10	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 10, 615987 Tags
Red Red List (low evidence)	BBS12	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 12, 615989 Tags
Red Red List (low evidence)	BBS2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 2, 615981 Tags
Red Red List (low evidence)	BBS4	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 4, 615982 Tags
Red Red List (low evidence)	BBS5	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 5, 615983 Tags
Red Red List (low evidence)	BBS7	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 7, 615984 Tags
Red Red List (low evidence)	BBS9	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 9, 615986 Tags
Red Red List (low evidence)	CACNB4	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Episodic ataxia type 5, 613855 Tags
Red Red List (low evidence)	CCDC28B	3 reviews 2 red	Other	Sources Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes {Bardet-Biedl syndrome 1, modifier of}, 209900 Tags
Red Red List (low evidence)	CHCHD10	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532 Tags
Red Red List (low evidence)	CHMP1A	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 8, 614961 Tags
Red Red List (low evidence)	CYP2U1	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes Spastic paraplegia 56, autosomal recessive, 615030 Tags
Red Red List (low evidence)	DAB1	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Neurodevelopmental disorder, MONDO:0700092, DAB1-related Tags
Red Red List (low evidence)	EEF2	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red GeneReviews Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes ?Spinocerebellar ataxia 26 Tags
Red Red List (low evidence)	ELOVL1	3 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, 618527 Tags
Red Red List (low evidence)	EXOSC3	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia, type 1B, 614678 Tags
Red Red List (low evidence)	HARS2	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	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Red Literature Phenotypes Hereditary spastic paraplegia MONDO:0019064, IFRD1-related Tags
Red Red List (low evidence)	LMNB1 upstream region LMNB1 upstream region Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Adult-onset autosomal dominant demyelinating leukodystrophy, MONDO:0008215 Tags regulatory region
Red Red List (low evidence)	MME	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red GeneReviews Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes ?Spinocerebellar ataxia type 43, 617018 Tags
Red Red List (low evidence)	NOL3	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Royal Melbourne Hospital Phenotypes Myoclonus, familial cortical Tags
Red Red List (low evidence)	PAX6	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	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red GeneReviews Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes cerebellar ataxia, dystonia, retinopathy, and dysmorphism Tags
Red Red List (low evidence)	PCYT2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Red 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	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Victorian Clinical Genetics Services Phenotypes Ataxia-oculomotor apraxia 3, OMIM #615217 Tags disputed
Red Red List (low evidence)	PRICKLE1	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	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Pontocerebellar hypoplasia, type 6, 611523 early onset cerebellar ataxia Tags
Red Red List (low evidence)	SAR1B	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes Chylomicron retention disease, 246700 Tags
Red Red List (low evidence)	SEPSECS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 2D, 613811 cerebellar ataxia and cognitive impairment Tags
Red Red List (low evidence)	SLC27A3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Inherited neurodegenerative disorder, MONDO:0024237, SLC27A3-related Tags
Red Red List (low evidence)	SYT14	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red GeneReviews Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes ?Spinocerebellarataxia,autosomalrecessive11,614229 Tags
Red Red List (low evidence)	TGM6	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources 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	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	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Red 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	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes Pontocerebellar hypoplasia type 2B, 612389 Tags
Red Red List (low evidence)	TSEN34	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes ?Pontocerebellar hypoplasia type 2C, 612390 Tags
Red Red List (low evidence)	TSEN54	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Phenotypes adult-onset cerebellar ataxia Tags
Red Red List (low evidence)	TTC8	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 8, 615985 Tags
Red Red List (low evidence)	TUBA1A	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	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)	WDPCP	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Red 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	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Nephronophthisis 14 Tags
Red Red List (low evidence)	ZNF592	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

Major version comments

2022-10-13 02:26 Bryony Thompson (Royal Melbourne Hospital) promoted panel to 1.0
All genes on panel have now been reviewed against paediatric-onset ataxia.

Ataxia (Version 1.203)

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