Ataxia - paediatric (Version 1.26)

Description

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

Panel Activity

27 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Andrew Fennell (Monash Genetics)
Sebastian Lunke (Victorian Clinical Genetics Services)
Alison Yeung (Victorian Clinical Genetics Services)
Eleanor Williams (Genomics England)
Arina Puzriakova (Genomics England)
Samantha Ayres (Victorian Clinical Genetics Services)
Danielle Ariti (University of Melbourne)
Belinda Chong (Victorian Clinical Genetics Services)
Sarah Leigh (Genomics England)
Teresa Zhao (Victorian Clinical Genetics Services)
Chirag Patel (Genetic Health Queensland)
Anna Ritchie (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Krithika Murali (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Lucy Spencer (Victorian Clinical Genetics Services)
Hazel Phillimore (Victorian Clinical Genetics Services)
Dean Phelan (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Seb Lunke (Victorian Clinical Genetics Services)
Ee Ming Wong (Victorian Clinical Genetics Services)
Daniel Flanagan (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

251 Entities

251 reviewed, 199 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 251 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 Anemia, sideroblastic, with ataxia Sideroblastic Anemia and Ataxia Anemia, sideroblast with ataxia, 300135 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 Early onset cerebellar atrophy, developmental delay, and feeding and respiratory difficulties, severe motor neuronopathy Neurodegeneration, childhood-onset, with cerebellar atrophy, 618276 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 Mental retardation, X-linked syndromic 5, 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)	ATP1A3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Alternating hemiplegia of childhood 2 MIM#614820 CAPOS syndrome MIM#601338 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)	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)	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)	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)	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)	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 Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 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 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 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 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	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ceroid neuronal lipofuscinosis 6, 601780 Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300 Ceroid neuronal lipofuscinosis kufs type, 204300 Ceroid lipofuscinosis, neuronal, 6, 601780 Tags
Green Green List (high evidence)	CLPP	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)	COQ8A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Primary coenzyme Q10 deficiency 4, 612016 Spinocerebellar Ataxia Type Coenzyme Q10 deficiency, primary 4, 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)	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)	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)	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)	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)	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)	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)	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)	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)	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)	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)	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)	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)	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)	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)	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)	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	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	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)	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)	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 Behr syndrome, 210000 Optic atrophy plus syndrome, 125250 Optic atrophy 1, 165500 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)	PAX6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Aniridia, 106210 Aniridia, Cerebellar Ataxia, And Mental Retardation 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)	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 Autosomal Recessive Ataxia Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism Hypomyelinating leukodystrophy 7 with or without oligodontia and/or hypogonadotrophic hypogonadism, 607694 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)	PRDX3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cerebellar ataxia (early onset, mild to moderate, progressive) 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 Episodic kinesigenic dyskinesia 1 MIM#128200 Convulsions, familial infantile, with paroxysmal choreoathetosis MIM#602066 Seizures, benign familial infantile, 2 MIM#605751 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)	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)	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)	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)	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)	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)	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 congenital ocular motor apraxia (forme fruste of Joubert syndrome) 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)	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)	THG1L	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cerebellar ataxia with developmental delay 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)	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	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Hereditary ataxia MONDO:0100309, TUBA4A-related 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)	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)	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
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)	ATP2B3	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 list Expert Review Amber GeneReviews Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, X-linked 1 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)	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)	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)	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)	SLC9A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Lichtenstein-Knorr Syndrome, MIM# 616291 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)	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)	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)	VRK1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Pontocerebellar hypoplasia type 1A, 607596 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)	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)	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)	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)	COQ5	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary 9, MIM#619028 Cerebellar ataxia encephalopathy generalized tonic-clonic seizures intellectual disability 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 Literature Phenotypes epilepsy developmental delay cerebellar ataxia structural brain abnormalities oral motor difficulty 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)	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
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
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)	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)	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 - paediatric (Version 1.26)

27 reviewers

251 Entities

251 reviewed, 199 green

2 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

2 reviews

Sources

Phenotypes

Tags

1 review

Sources

Phenotypes

Tags

3 reviews

Sources

Phenotypes

Tags