Ataxia - adult onset (Version 1.16)

Description

This panel is maintained by the Royal Melbourne Hospital for use in the Royal Melbourne Hospital "adult" neurogenetics clinic. It contains genes that are associated with adolescent or adult onset ataxia as a prominent feature of the condition.

It is a consensus panel used by VCGS.

Panel Activity

22 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Sebastian Lunke (Victorian Clinical Genetics Services)
Sue White (Victorian Clinical Genetics Services)
Eleanor Williams (Genomics England)
Paul De Fazio (Victorian Clinical Genetics Services)
Arina Puzriakova (Genomics England)
Manny Jacobs (Victorian Clinical Genetics Services)
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)
Hazel Phillimore (Victorian Clinical Genetics Services)
Dean Phelan (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Seb Lunke (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Chris Ciotta (Victorian Clinical Genetics Services)
Michelle Torres (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)

126 Entities

126 reviewed, 86 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 126 Entitiess
Green Green List (high evidence)	AAAS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Triple A syndrome, 231550 Achalasia-addisonianism-alacrimia syndrome, 231550 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 Tags
Green Green List (high evidence)	ABHD12	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC) Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa and cataract, 612674 Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract Tags
Green Green List (high evidence)	AFG3L2	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 Ataxia, spastic, 5, autosomal recessive spastic ataxia 5, 614487 Spinocerebellar ataxia 28 Spinocerebellar ataxia 28, 610246 Spinocerebellar Ataxia, Dominant Tags
Green Green List (high evidence)	ANO10	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia autosomal recessive type 10, 613728 Spinocerebellar ataxia, autosomal recessive 10 Tags
Green Green List (high evidence)	ATM	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Ataxia-telangiectasia, 607585 Ataxia-Telangiectasia 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 Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes CAPOS syndrome, 601338 Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338) Dystonia-12, 128235 Alternating hemiplegia of childhood 2, 614820 DYSTONIA 12, 128235 ALTERNATING HEMIPLEGIA OF CHILDHOOD 2, 614820 Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235) Tags
Green Green List (high evidence)	CACNA1A	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia 6 familial hemiplegic migraine type 1, 141500 Familial hemiplegic migraine 1, 141500 SCA6, 183086 episodic ataxia type 2 (EA2),108500 Episodic ataxia type 2, 108500 Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia Episodic ataxia, type 2 Tags STR
Green Green List (high evidence)	CACNA1G	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes early-onset SCA42 with neurodevelopmental deficits, 618087 Spinocerebellar ataxia 42, 616795 Tags
Green Green List (high evidence)	CANVAS 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)	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
Green Green List (high evidence)	CLCN2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes {Epilepsy, juvenile absence, susceptibility to, 2}, 607628 Leukoencephalopathy with ataxia, 615651 {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628 {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628 Tags
Green Green List (high evidence)	COA7	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia with axonal neuropathy Tags
Green Green List (high evidence)	COQ4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Spastic ataxia 10, autosomal recessive, MIM# 620666 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	2 reviews 2 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)	DNAJC5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Ceroid lipofuscinosis, neuronal, 4, Parry type 162350 Ceroid neuronal lipofuscinosis 4, Parry type, 162350 Tags
Green Green List (high evidence)	DNMT1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Cerebellar ataxia, deafness and narcolepsy, 604121 Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, Hereditary sensory neuropathy type IE, 614116 Tags
Green Green List (high evidence)	DRPLA STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Dentatorubral-pallidoluysian atrophy MIM#125370 Tags STR
Green Green List (high evidence)	EIF2B1	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Tags
Green Green List (high evidence)	EIF2B2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Tags
Green Green List (high evidence)	EIF2B3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Tags
Green Green List (high evidence)	EIF2B4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease Tags
Green Green List (high evidence)	EIF2B5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Leukoencephalopathy with vanishing white matter, 603896 Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease 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)	EPM1 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)	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)	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)	FGF14	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia type 27, 609307 Spinocerebellar ataxia 27 Tags
Green Green List (high evidence)	FLVCR1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Posterior column ataxia with retinitis pigmentosa, 609033 Ataxia, posterior column, with retinitis pigmentosa, Posterior Column Ataxia with Retinitis Pigmentosa Tags
Green Green List (high evidence)	FRDA 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)	FXN	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Friedreich ataxia with retained reflexes,229300 Friedreich ataxia, 229300 Friedreichataxia, 229300 Tags STR
Green Green List (high evidence)	FXTAS 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)	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)	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)	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, imprinted status unknown	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Gillespie syndrome, 206700 Spinocerebellar ataxia 29 Spinocerebellar ataxia 29, 117360 Spinocerebellar ataxia 15 Spinocerebellar ataxia 15, 606658 Tags
Green Green List (high evidence)	KCNC3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 13 Spinocerebellar ataxia 13, 605259 Tags
Green Green List (high evidence)	KCND3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia 19, MIM# 607346 Tags
Green Green List (high evidence)	KIF1C	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Spastic ataxia 2,autosomal recessive Autosomal recessive spastic ataxia 2, 611302 Tags
Green Green List (high evidence)	LMNB1	2 reviews 2 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)	MARS2	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Spastic ataxia 3, autosomal recessive, 611390 Tags SV/CNV
Green Green List (high evidence)	MSTO1	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Mitochondrial myopathy and ataxia, 617675 Tags
Green Green List (high evidence)	NPC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Niemann-Pick disease, type C1 MONDO:0009757 ataxia 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)	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)	PEX7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Peroxisome biogenesis disorder 9B, MIM# 614879 Tags
Green Green List (high evidence)	PNPLA6	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients Boucher-Neuhauser syndrome, 215470 Sapstic paraplegia 39, 612020 Oliver-McFarlane syndrome (#603197) Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470) Oliver-McFarlane syndrome, 275400 Tags
Green Green List (high evidence)	POLG	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 Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) Mitochondrial recessive ataxia syndrome, 607459 Mitochondrial DNA depletion types 4A, 203700 and 4B, 613662 autosomal recessive progressive external opthalmoplegia, 258450 autosomal dominant progressive external ophthalmoplegia, 157640 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)	PRKCG	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 14 MIM#605361 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)	PRRT2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Familial infantile convulsions with paroxysmal dyskinesia 1, 602066 CONVULSIONS, FAMILIAL INFANTILE, WITH PAROXYSMAL CHOREOATHETOSIS episodic kinesigenic dyskinesia dystonia and occasionally hemiplegic migraine and epilepsy episodic kinesigenic dyskinesia, 128200 EPISODIC KINESIGENIC DYSKINESIA 1 SEIZURES, BENIGN FAMILIAL INFANTILE, 2 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)	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 Royal Melbourne Hospital Phenotypes Cerebellar ataxia and hypogonadotrophic hypogonadism Cerebellar ataxia and hypogonadotropic hypogonadism, 212840 Tags
Green Green List (high evidence)	SACS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Phenotypes Spastic ataxia, Charlevoix-Saguenay type Charlevoix-Saguenay spastic ataxia, 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)	SCA1 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 1 MIM#164400 Tags STR
Green Green List (high evidence)	SCA10 STR	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 10 MIM#603516 Tags STR
Green Green List (high evidence)	SCA12 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)	SCA17 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)	SCA2 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 2 MIM#183090 Tags STR
Green Green List (high evidence)	SCA27B 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)	SCA3 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 STR
Green Green List (high evidence)	SCA31 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Spinocerebellar ataxia 31 MIM#117210 Tags STR
Green Green List (high evidence)	SCA36 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)	SCA37 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)	SCA4_ZFHX3_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
Green Green List (high evidence)	SCA6 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 STR
Green Green List (high evidence)	SCA7 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 7 MIM#164500 Tags STR
Green Green List (high evidence)	SCA8 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Spinocerebellar ataxia 8 MIM#608768 Tags STR
Green Green List (high evidence)	SETX	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Autosomal recessive spinocerebellar ataxia type 1, 606002 ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia Ataxia-ocular apraxia-2 Tags
Green Green List (high evidence)	SLC1A3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Episodic ataxia, type 6 MIM#612656 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)	SPTBN2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 5, 600224 Spinocerebellar ataxia, autosomal recessive 14, 615386 Tags
Green Green List (high evidence)	STUB1	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 Spinocerebellar ataxia 48, MIM#618093 Tags
Green Green List (high evidence)	SYNE1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia, autosomal recessive 8 Cerebellar Ataxia Autosomal recessive spinocerebellar ataxia type 8 Tags
Green Green List (high evidence)	TMEM240	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 21, 607454 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)	TTPA	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Royal Melbourne Hospital Victorian Clinical Genetics Services Phenotypes Ataxia with isolated vitamin E deficiency Ataxia with Vitamin E Deficiency Ataxia with isolated vitamin E deficiency, 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)	VPS13D	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia, autosomal recessive 4, 607317 Tags
Green Green List (high evidence)	XRCC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia Autosomal recessive spinocerebellar ataxia 26, 617633 Tags
Amber Amber List (moderate evidence)	CANVAS_ACAGG STR	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome fasciculations elevated serum creatine kinase levels denervation 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)	FDXR	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Victorian Clinical Genetics Services Phenotypes Auditory neuropathy and optic atrophy, 617717 Neurodevelopmental disorder with mitochondrial abnormalities, optic atrophy, and developmental regression, MIM# 620887 Tags
Amber Amber List (moderate evidence)	MTCL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes spinocerebellar ataxia 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)	PNPT1	4 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Spinocerebellar ataxia 25, MIM# 608703 Tags
Amber Amber List (moderate evidence)	PRPS1	3 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 Review Amber Literature Phenotypes Adult-onset progressive ataxia, congenital strabismus, infantile-onset hearing loss, retinal dystrophy Tags
Amber Amber List (moderate evidence)	RFC1	4 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Literature Phenotypes Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575 Tags STR
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)	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)	TRPC3	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber GeneReviews Royal Melbourne Hospital 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)	ZFYVE26	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Royal Melbourne Hospital Phenotypes Autosomal recessive spastic paraplegia 15, 270700 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)	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)	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)	EEF2	2 reviews 1 green	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)	IFRD1	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Red Literature Phenotypes Spinocerebellar ataxia 18 MIM#607458 Tags
Red Red List (low evidence)	MME	2 reviews 1 green 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)	SEPSECS	2 reviews 1 green 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)	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)	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)	VWA3B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red GeneReviews Royal Melbourne Hospital Phenotypes ?Spinocerebellar ataxia, autosomal recessive 22 Tags
No list No list	ATN1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Removed Victorian Clinical Genetics Services Phenotypes Dentatorubral-pallidoluysian atrophy MIM#125370 Tags STR
No list No list	ATXN1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Removed Phenotypes Spinocerebellar ataxia 1 MIM#164400 Tags STR
No list No list	ATXN10	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Removed Phenotypes Spinocerebellar ataxia 10 MIM#603516 Tags STR
No list No list	ATXN2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Removed Phenotypes Spinocerebellar ataxia 2 MIM#183090 Tags STR
No list No list	ATXN3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Removed Phenotypes Machado-Joseph disease MIM#109150 spindocerebellar ataxia 3 Tags STR
No list No list	ATXN7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Removed Phenotypes Spinocerebellar ataxia 7 MIM#164500 Tags STR
No list No list	ATXN8	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Removed Phenotypes Spinocerebellar ataxia 8 MIM#608768 Tags STR
No list No list	BEAN1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Removed Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 31, 117210 autosomal dominant cerebellar ataxia type III Tags STR
No list No list	DAB1	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Red Expert Review Removed Victorian Clinical Genetics Services Phenotypes Spinocerebellar ataxia 37 MIM#615945 Tags STR
No list No list	FMR1	1 review	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Removed Royal Melbourne Hospital Phenotypes FragileXtremor/ataxiasyndrome,300623 males with a tremor phenotype Fragile X tremor/ataxia syndrome FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI) Tags STR
No list No list	NOP56	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Removed Royal Melbourne Hospital Phenotypes Spinocerebellar ataxia 36, 614153 Tags STR
No list No list	PPP2R2B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Removed Phenotypes Spinocerebellar ataxia 12 MIM#604326 Tags STR
No list No list	TBP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Removed Phenotypes Spinocerebellar ataxia 17 MIM#607136 Tags STR

Major version comments

2022-10-13 02:47 Bryony Thompson (Royal Melbourne Hospital) promoted panel to 1.0
All genes on the panel have been reviewed against adult-onset ataxia.

Ataxia - adult onset (Version 1.16)

22 reviewers

126 Entities

126 reviewed, 86 green

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