PanelApp (stage)
  1. Panels
  2. Ataxia_Superpanel
Description
This superpanel is composed of Adult and Paediatric Ataxia panels.

384 Entities

384 reviewed, 290 green

List Entity Reviews Mode of inheritance Details
384 Entitiess
Green Green List (high evidence)
AAAS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Triple A syndrome, 231550
  • Achalasia-addisonianism-alacrimia syndrome, 231550
Tags
Green Green List (high evidence)
AAAS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Achalasia-addisonianism-alacrimia syndrome MIM#231550
Tags
Green Green List (high evidence)
ABCB7
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Anemia, sideroblastic, with ataxia
  • Sideroblastic Anemia and Ataxia
  • Anemia, sideroblast with ataxia, 300135
Tags
Green Green List (high evidence)
ABCD1
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Adrenoleukodystrophy
Tags
Green Green List (high evidence)
ABHD12
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • 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)
ABHD12
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract MIM#612674
Tags
Green Green List (high evidence)
ACBD6
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 Review Green
  • Expert list
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • Infantile cerebellar-retinal degeneration, MIM#614559
Tags
Green Green List (high evidence)
ADGRG1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Polymicrogyria, Frontoparietal, 606854
  • Polymicrogyria, perisylvian type, 615752
Tags
Green Green List (high evidence)
ADPRHL2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Neurodegeneration, childhood-onset, stress-induced with variable ataxia and seizures, 618170
Tags
  • new gene name
Green Green List (high evidence)
AFG3L2
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic ataxia 5, autosomal recessive MIM#614487
  • Spinocerebellar ataxia 28 MIM#610246
Tags
Green Green List (high evidence)
AFG3L2
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • 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)
AGTPBP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
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
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 3
Tags
Green Green List (high evidence)
ALDH5A1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Tags
Green Green List (high evidence)
ANO10
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 10 MIM#613728
Tags
Green Green List (high evidence)
ANO10
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia autosomal recessive type 10, 613728
  • Spinocerebellar ataxia, autosomal recessive 10
Tags
Green Green List (high evidence)
AP1S2
2 reviews
2 green 		X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • 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 Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ataxia-telangiectasia, 607585
  • Ataxia-Telangiectasia
Tags
Green Green List (high evidence)
ATM
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Ataxia-telangiectasia MIM#208900
Tags
Green Green List (high evidence)
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 Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Alternating hemiplegia of childhood 2 MIM#614820
  • CAPOS syndrome MIM#601338
Tags
Green Green List (high evidence)
ATP1A3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • 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)
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
  • 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 Review Green
  • Royal Melbourne Hospital
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4, MIM#615268
Tags
Green Green List (high evidence)
BBS1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 1, 209900
Tags
Green Green List (high evidence)
BCKDHB
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Episodic ataxia during metabolic crises
  • paroxysmal nonkinesigenic dyskinesia
Tags
  • treatable
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 Review Green
  • Royal Melbourne Hospital
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
  • Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3, 613227
Tags
Green Green List (high evidence)
CACNA1A
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Episodic ataxia, type 2 MIM#108500
Tags
  • STR
Green Green List (high evidence)
CACNA1A
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert list
Phenotypes
  • Episodic ataxia, type 2 MIM#108500
Tags
  • STR
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, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits MIM#618087
Tags
Green Green List (high evidence)
CACNA1G
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • early-onset SCA42 with neurodevelopmental deficits, 618087
  • Spinocerebellar ataxia 42, 616795
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 Review Green
  • Literature
  • Expert Review Green
  • Expert list
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)
CANVAS
STR
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
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 Review Green
  • Expert list
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spastic paraplegia 76, autosomal recessive, 616907
  • MONDO:0014827
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
  • Expert Review Green
Phenotypes
  • FG syndrome 4, 300422
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
Tags
Green Green List (high evidence)
CBY1
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
  • Expert Review Green
  • 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
  • Expert Review Green
  • 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
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 15
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
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • {Epilepsy, juvenile absence, susceptibility to, 2}, 607628
  • Leukoencephalopathy with ataxia, 615651
  • {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628
  • {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628
Tags
Green Green List (high evidence)
CLN5
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
  • Expert Review Green
Phenotypes
  • Ceroid neuronal lipofuscinosis 6, 601780
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
  • Ceroid neuronal lipofuscinosis kufs type, 204300
  • Ceroid lipofuscinosis, neuronal, 6, 601780
Tags
Green Green List (high evidence)
CLPP
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 Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3 MIM#618387
Tags
Green Green List (high evidence)
COA7
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia with axonal neuropathy
Tags
Green Green List (high evidence)
COQ4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Spastic ataxia 10, autosomal recessive, MIM# 620666
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
  • Expert Review Green
Phenotypes
  • Primary coenzyme Q10 deficiency 4, 612016
  • Spinocerebellar Ataxia Type
  • Coenzyme Q10 deficiency, primary 4, 612016
Tags
  • treatable
Green Green List (high evidence)
COX20
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
  • Mitochondrial complex IV deficiency
Tags
Green Green List (high evidence)
CP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Aceruloplasminemia, 604290
  • Cerebellar ataxia, 604290
  • Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Tags
Green Green List (high evidence)
CSF1R
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)
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 Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, MIM#617915
Tags
Green Green List (high evidence)
CWF19L1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 17, 616127
  • Autosomal recessive spinocerebellar ataxia type 17, 616127
Tags
Green Green List (high evidence)
CYP27A1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Cerebrotendinous xanthomatosis, 213700
Tags
Green Green List (high evidence)
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
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Tags
Green Green List (high evidence)
DDHD2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Autosomal recessive paraplegia 54 (#615033). Complex form of disease ataxia reported amongst the phenotypic features in Citterio et al. (2014), Journal of Neurology, 261, pp.373-381 and Doi et al. (2014), Scientific Reports, 4, 7132.
  • Spastic paraplegia 54
Tags
Green Green List (high evidence)
DHDDS
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
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria, type V 610198
  • dilated cardiomyopathy with ataxia (DCMA) syndrome
  • 3-methylglutaconic aciduria type V, 610198
Tags
Green Green List (high evidence)
DNAJC5
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
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
  • Royal Melbourne Hospital
  • Expert Review Green
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)
DOCK3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292
Tags
Green Green List (high evidence)
DRPLA
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Dentatorubral-pallidoluysian atrophy MIM#125370
Tags
  • STR
Green Green List (high evidence)
EBF3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Hypotonia, ataxia and delayed development syndrome, 617330
Tags
Green Green List (high evidence)
EIF2B1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy with vanishing white matter MIM#603896
Tags
Green Green List (high evidence)
EIF2B1
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • 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 Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukoencephalopathy with vanishing white matter MIM#603896
Tags
Green Green List (high evidence)
EIF2B2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • 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 Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
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 Review Green
  • Expert list
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 Review Green
  • Expert list
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 Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
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 Review Green
  • Expert list
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 Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
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
  • Expert Review Green
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)
EPM2A
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Progressive myoclonic epilepsy 2A, Lafora, 254780
  • Epilepsy, progressive myoclonic 2A (Lafora) 254780
Tags
Green Green List (high evidence)
ERCC4
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Cerebellar ataxia
  • Xeroderma pigmentosum, group F, MIM# 278760
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 Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 35, autosomal recessive MIM#612319
Tags
Green Green List (high evidence)
FAT2
4 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Expert list
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • Spinocerebellar ataxia 45, MIM#617769
Tags
Green Green List (high evidence)
FBXL4
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 Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 27 MIM#609307
Tags
Green Green List (high evidence)
FGF14
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Episodic Ataxia type 9
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
  • Expert Review Green
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 Review Green
  • Expert list
Phenotypes
  • Ataxia, posterior column, with retinitis pigmentosa MIM#609033
Tags
Green Green List (high evidence)
FLVCR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
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)
FOLR1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodegeneration due to cerebral folate transport deficiency, 613068
  • Neurodegeneration due to cerebral folate transport deficiency
Tags
Green Green List (high evidence)
FRDA
STR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Friedreich ataxia MIM#229300
Tags
  • STR
Green Green List (high evidence)
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 Review Green
  • Expert list
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 Review Green
  • Expert list
Phenotypes
  • Fragile X tremor/ataxia syndrome MIM#300623
Tags
  • STR
Green Green List (high evidence)
GBA2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 46, autosomal recessive, MIM# 614409
  • MONDO:0013737
Tags
Green Green List (high evidence)
GDAP2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Autosomal recessive spinocerebellar ataxia
Tags
Green Green List (high evidence)
GEMIN5
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with cerebellar atrophy and motor dysfunction, OMIM # 619333
Tags
Green Green List (high evidence)
GFAP
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Alexander disease, 203450
  • Autosomal Dominant Ataxia
  • Alexander disease
Tags
Green Green List (high evidence)
GJC2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Hypomyelinating leukodystrophy 2, 608804
  • Leukodystrophy, hypomyelinating, 2
  • Autosomal Recessive Ataxia
  • Spastic paraplegia 44, 613206
Tags
Green Green List (high evidence)
GOSR2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Epilepsy, progressive myoclonic 6, 614018
  • Progressive myoclonic epilepsy 6, 614018
Tags
Green Green List (high evidence)
GPAA1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 15, 617810
Tags
Green Green List (high evidence)
GRID2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 18, 616204
Tags
Green Green List (high evidence)
GRM1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 13
  • Spinocerebellar ataxia 44, 617691, autosomal recessive spinocerebellar ataxia type 13, 614831
Tags
Green Green List (high evidence)
GSS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Gluthathione synthetase deficiency, MIM# 266130
Tags
Green Green List (high evidence)
HEXA
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • GM2-gangliosidosis, several forms, 272800
  • Tay-Sachs disease, 272800
Tags
Green Green List (high evidence)
HEXB
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Sandhoff disease, infantile, juvenile, and adult forms, 268800
  • Sandhoff disease, 268800
Tags
Green Green List (high evidence)
INPP5E
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 1
Tags
Green Green List (high evidence)
IRF2BPL
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)
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 Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • 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)
ITPR1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 15 MIM#606658
  • Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360
Tags
Green Green List (high evidence)
KCNA1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • EPISODIC ATAXIA, TYPE 1
  • myokymia with periodic ataxia
  • Episodic ataxia/myokymia syndrome, 160120
  • Episodic ataxia/myokymia syndrome
Tags
Green Green List (high evidence)
KCNA1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Episodic ataxia/myokymia syndrome MIM#160120
  • EA1
Tags
Green Green List (high evidence)
KCNA2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Early infantile encephalopathy 32, 616366
Tags
Green Green List (high evidence)
KCNC3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 13 MIM#605259
Tags
Green Green List (high evidence)
KCNC3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • 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)
KCND3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Spinocerebellar ataxia 19, MIM# 607346
Tags
Green Green List (high evidence)
KCNJ10
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome
  • SESAME syndrome, 612780
Tags
Green Green List (high evidence)
KCNN2
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 Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic ataxia 2,autosomal recessive
  • Autosomal recessive spastic ataxia 2, 611302
Tags
Green Green List (high evidence)
KIF1C
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic ataxia 2, autosomal recessive MIM#611302
Tags
Green Green List (high evidence)
KIF7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Koubert syndrome 12
  • Acrocallosal syndrome, Schinzel type
Tags
Green Green List (high evidence)
LAMA1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • Poretti-Boltshauser syndrome
  • Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts syndrome
Tags
Green Green List (high evidence)
LARS2
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
  • Expert Review Green
  • Literature
Phenotypes
  • Childhood-onset neurodegeneration with multisystem involvement due to mitochondrial dysfunction (CONDMIM), MIM#620089
Tags
Green Green List (high evidence)
LMNB1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy, adult-onset, autosomal dominant MIM#169500
Tags
  • SV/CNV
Green Green List (high evidence)
MAG
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spastic paraplegia 75, autosomal recessive, MIM# 616680
  • Cerebellar ataxia
  • Oculomotor apraxia
Tags
Green Green List (high evidence)
MARS2
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Australian Genomics Health Alliance Mitochondrial Flagship
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic ataxia 3, autosomal recessive MIM#611390
Tags
  • SV/CNV
Green Green List (high evidence)
MARS2
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic ataxia 3, autosomal recessive, 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
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 28
Tags
Green Green List (high evidence)
MMACHC
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Methylmalonic aciduria and homocystinuria cblC type, 277400
  • Methylmalonic aciduria and homocystinuria, cblC type, 277400
  • Ataxia and hypogonadism
Tags
  • treatable
Green Green List (high evidence)
MORC2
2 reviews
1 green 1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Axonal type CMT disease type 2Z, 616688
  • Cerebellar ataxia
Tags
Green Green List (high evidence)
MRE11
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Ataxia-Telangiectasia-Like Disorder
  • Ataxia-telangiectasia-like disorder 1, 604391
Tags
Green Green List (high evidence)
MSTO1
3 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Myopathy, mitochondrial, and ataxia MIM#617675
Tags
Green Green List (high evidence)
MSTO1
3 reviews
3 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial myopathy and ataxia, 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 Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Combined oxidative phosphorylation deficiency 15 MIM#614947
  • Mitochondrial complex I deficiency, nuclear type 27 MIM#618248
Tags
Green Green List (high evidence)
MTTP
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Abetalipoproteinemia, 200100
  • Abetalipoproteinemia
Tags
  • treatable
Green Green List (high evidence)
MVK
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Mevalonic aciduria 610377
Tags
Green Green List (high evidence)
NHLRC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Progressive myoclonic epilepsy 2B, Lafora, 254780
  • Epilepsy, progressive myoclonic 2B (Lafora) 254780
Tags
Green Green List (high evidence)
NKX2-1
2 reviews
2 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress 610978
  • Choreoathetosis, hypothyroidism and neonatal respiratory distress, 610978
  • Chorea, hereditary benign 118700
  • Hereditary bening chorea, 118700
Tags
Green Green List (high evidence)
NKX6-2
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Autosomal recessive spastic ataxia 8 with hypomyelinating leukodystrophy, 617560
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy 617560
Tags
Green Green List (high evidence)
NOVA2
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with or without autistic features and/or structural brain abnormalities, OMIM #618859
Tags
Green Green List (high evidence)
NPC1
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)
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 Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Niemann-Pick disease type C2, 607625
  • Niemann-Pick disease type C2 (#607625)
Tags
Green Green List (high evidence)
NPHP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 4
Tags
Green Green List (high evidence)
NPTX1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • cerebellar ataxia MONDO#0000437, NPTX1-related
Tags
Green Green List (high evidence)
NUBPL
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Mitochondrial complex I deficiency, nuclear type 21, OMIM # 618242
Tags
Green Green List (high evidence)
NUS1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Epilepsy, myoclonus, ataxia and scoliosis
  • Mental retardation, autosomal dominant 55, with seizures, 617831
Tags
Green Green List (high evidence)
OFD1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Joubert syndrome 10
Tags
Green Green List (high evidence)
OPA1
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
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • 3-methylglutaconic aciduria, type III, 258501
  • Optic atrophy 3 with cataract, 165300
  • 3-methylglutaconic aciduria type III, 258501
  • Costeff syndrome
Tags
Green Green List (high evidence)
OPHN1
1 review
1 green 		X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • X-linked mental retardation with cerebellar hypoplasia and distinctive facial appearance, 300486
  • Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
Tags
Green Green List (high evidence)
PAX6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Aniridia, 106210
  • Aniridia, Cerebellar Ataxia, And Mental Retardation
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
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 23
  • Spinocerebellar ataxia 23, 610245
Tags
Green Green List (high evidence)
PEX16
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Zellweger syndrome (614876)
  • Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis
  • Peroxisome biogenesis disorder 8A, 614876
  • Peroxisome biogenesis disorder 8B, 614877
Tags
Green Green List (high evidence)
PEX7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Peroxisome biogenesis disorder 9B, MIM# 614879
Tags
Green Green List (high evidence)
PEX7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • Refsum disease
  • Peroxisome biogenesis disorder 9B, MIM#614879
Tags
Green Green List (high evidence)
PHYH
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • Refsum disease, MIM# 266500
Tags
Green Green List (high evidence)
PIGS
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Expert Review
Phenotypes
  • Developmental and epileptic encephalopathy 95, OMIM # 618143
Tags
Green Green List (high evidence)
PITRM1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia-30 (SCAR30), MIM#619405
  • intellectual disability
  • cognitive decline
  • psychosis
Tags
Green Green List (high evidence)
PLA2G6
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Autosomal recessive Parkinson disease 14, 612953
  • Parkinson disease 14 (#612953)
  • Infantile neuroaxonal dystrophy 1 (#256600)
  • Infantile neuroaxonal dystrophy 1, 256600
  • Neurodegeneration with brain iron accumulation 2B (#610217)
  • Neurodegeneration with brain iron accumulation 2B, 610217
Tags
Green Green List (high evidence)
PMPCA
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 Review Green
  • Expert Review Green
  • Expert list
  • 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 Review Green
  • Expert list
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
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)
PNPLA6
3 reviews
3 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert list
Phenotypes
  • Boucher-Neuhauser syndrome MIM#215470
  • Laurence-Moon syndrome MIM#245800
  • Oliver-McFarlane syndrome MIM#275400
  • Spastic paraplegia 39, autosomal recessive MIM#612020
Tags
Green Green List (high evidence)
POLG
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • 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)
POLG
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Mitochondrial DNA depletion syndrome 4A (Alpers type) MIM#203700
  • Mitochondrial DNA depletion syndrome 4B (MNGIE type) MIM#613662
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) MIM#607459
  • Progressive external ophthalmoplegia, autosomal recessive 1 MIM#258450
Tags
Green Green List (high evidence)
POLR3A
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
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM#614381
Tags
Green Green List (high evidence)
POU4F1
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
  • Literature
Phenotypes
  • Cerebellar ataxia (early onset, mild to moderate, progressive)
Tags
Green Green List (high evidence)
PRDX3
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • 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
  • 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
  • Expert Review Green
  • 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)
PRRT2
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • 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)
PUM1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • 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 Review Green
  • Expert list
Phenotypes
  • Cerebellar ataxia and hypogonadotropic hypogonadism MIM#212840
Tags
Green Green List (high evidence)
RNF216
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Cerebellar ataxia and hypogonadotrophic hypogonadism
  • Cerebellar ataxia and hypogonadotropic hypogonadism, 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
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Royal Melbourne Hospital Clinical Genetics Department
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 15, MIM#615705
Tags
Green Green List (high evidence)
SACS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic ataxia, Charlevoix-Saguenay type MIM#270550
Tags
Green Green List (high evidence)
SACS
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
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 Review Green
  • Expert list
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 Review Green
  • Expert list
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 Review Green
  • Expert list
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 Review Green
  • Expert list
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 Review Green
  • Expert list
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 Review Green
  • Expert list
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 Review Green
  • Expert list
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 Review Green
  • Expert list
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 Review Green
  • Expert list
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 Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 8 MIM#608768
Tags
  • STR
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 Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2 MIM#606002
Tags
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)
SIL1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Marinesco-Sjogren syndrome, 248800
Tags
Green Green List (high evidence)
SLC13A3
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate (MIM# 618384)
Tags
Green Green List (high evidence)
SLC17A5
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
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Episodic ataxia, type 6 MIM#612656
Tags
Green Green List (high evidence)
SLC1A3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Episodic ataxia, type 6 MIM#612656
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
  • Expert Review Green
  • 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 Review Green
  • Expert list
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • dystonia 9
  • GLUT1 deficiency syndrome 2, 612126
  • GLUT1 DEFICIENCY SYNDROME 1
  • paroxysmal exertion-induced dyskinesia with or without epilepsy and/or hemolytic anemia
  • GLUT1 deficiency syndrome 1, 606777
  • Dystonia 9, 601042
  • EPILEPSY, IDIOPATHIC GENERALIZED
Tags
Green Green List (high evidence)
SLC44A1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
  • Literature
Phenotypes
  • Childhood-onset neurodegeneration
  • progressive ataxia tremor cognitive decline dysphagia optic atrophy dysarthria
Tags
Green Green List (high evidence)
SLC52A2
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
  • Expert Review Green
  • 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 Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Myasthenic syndrome, congenital, 18, 616330
  • cerebellar ataxia and seizures
Tags
Green Green List (high evidence)
SNX14
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Autosomal recessive spinocerebellar ataxia 20, 616354
  • Autosomal recessive spinocerebellar ataxia (#616354)
Tags
Green Green List (high evidence)
SPG7
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia
  • Autosomal recessive spastic paraplegia 7, 607259
Tags
Green Green List (high evidence)
SPR
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 Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 14, MIM# 615386
  • Spinocerebellar ataxia 5, MIM# 600224
Tags
Green Green List (high evidence)
SPTBN2
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • 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)
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 Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Kahrizi syndrome, 612713
  • Congenital disorder of glycosylation, type Iq, 612379
  • Congenital disorder of glycosylation type Iq, 612379
Tags
Green Green List (high evidence)
STUB1
2 reviews
2 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 48, MIM#618093
Tags
Green Green List (high evidence)
STUB1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 16, MIM# 615768
Tags
Green Green List (high evidence)
SUFU
3 reviews
3 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • 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 Review Green
  • Expert list
  • 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 Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 8
  • Cerebellar Ataxia
  • Autosomal recessive spinocerebellar ataxia type 8
Tags
Green Green List (high evidence)
SYNE1
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 8, MIM# 610743
Tags
Green Green List (high evidence)
TBC1D23
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 Review Green
  • Expert list
  • Royal Melbourne Hospital
  • GeneReviews
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 Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 21, MIM# 607454
Tags
Green Green List (high evidence)
TMEM240
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 21, 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
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Autosomal recessive spinocerebellar ataxia 7, 609270
  • Neuronal ceroid lipofuscinosis, 204500
  • Spinocerebellar ataxia, autosomal recessive 7, 609270
  • Ceroid lipofuscinosis, neuronal, 2, 204500
Tags
Green Green List (high evidence)
TSFM
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • Combined oxidative phosphorylation deficiency 3
Tags
Green Green List (high evidence)
TTBK2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 11, 604432
  • Spinocerebellar ataxia 11
Tags
Green Green List (high evidence)
TTC19
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Mitochondrial complex III deficiency nuclear type II, 615157
  • Mitochondrial complex III deficiency, nuclear type 2, 615157
Tags
Green Green List (high evidence)
TTI1
4 reviews
2 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with microcephaly and movement abnormalities, MIM# 620445
Tags
Green Green List (high evidence)
TTPA
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Ataxia with isolated vitamin E deficiency, MIM# 277460
Tags
Green Green List (high evidence)
TTPA
2 reviews
2 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Expert list
  • Royal Melbourne Hospital
  • Expert Review Green
  • 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)
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
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy, hypomyelinating, 6, 612438
  • Dystonia 4, 128101, Hypomyelinating leukodystrophy 6, 612438
  • Dystonia 4, torsion, autosomal dominant, 128101
Tags
Green Green List (high evidence)
TWNK
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Mitochondrial DNA depletion syndrome 7, 271245
  • Ataxia Neuropathy Spectrum Disorders, Dominant
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, 609286
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286
  • Perrault syndrome 5, 616138
  • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245
  • Spinocerebellar Ataxia, Recessive
Tags
Green Green List (high evidence)
UBTF
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Neurodegeneration, childhood-onset, with brain atrophy, MIM# 617672
  • MONDO:0044701
Tags
Green Green List (high evidence)
UCHL1
1 review
1 green 		BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Royal Melbourne Hospital
Phenotypes
  • Spastic paraplegia 79, autosomal recessive, MIM#615491
  • Neurodegenerative disease, MONDO:0005559, UCHL1-related
Tags
Green Green List (high evidence)
VLDLR
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Cerebellar ataxia, mental retardation and dysequilibirum syndrome 1, 224050
  • Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050
Tags
Green Green List (high evidence)
VPS13D
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)
VPS13D
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317
Tags
Green Green List (high evidence)
VPS41
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 Green
  • Expert Review
Phenotypes
  • Parkinsonism-dystonia 3, childhood-onset, MIM# 619738
  • Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710
Tags
Green Green List (high evidence)
WDR73
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Galloway Mowat syndrome, when patients are ambulant ataxia is a recognisednfeature
  • Galloway-Mowat Syndrome 1, 251300
Tags
Green Green List (high evidence)
WDR81
3 reviews
1 green 2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review Red
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital hydrocephalus 3 with brain anomalies, 617967
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185
  • Cerebellar ataxia, mental retardation and dysequilibrium syndrome 2, 610185
Tags
Green Green List (high evidence)
WFS1
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
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Autosomal recessive spinocerebellar ataxia 12, 6143232
  • Early infantile epileptic encephalopathy 28, 616211
  • Autosomal recessive spinocerebellar ataxia 12, 614322
Tags
Green Green List (high evidence)
XRCC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia
  • Autosomal recessive spinocerebellar ataxia 26, 617633
Tags
Green Green List (high evidence)
XRCC1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
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 Review Green
  • Expert Review Amber
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Leukodystrophy
  • syndromic cleft palate
  • ataxia
  • retinal dystrophy
Tags
Amber Amber List (moderate evidence)
ATG5
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 Review Amber
  • Expert list
  • Expert Review Amber
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • Spinocerebellar ataxia, X-linked 1
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
  • Royal Melbourne Hospital
  • GeneReviews
  • 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)
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 Review Amber
  • Expert list
  • 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)
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 Review Amber
  • Expert list
  • 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 Review Green
  • Expert Review Amber
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 6, 605231
Tags
Amber Amber List (moderate evidence)
MTCL1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • spinocerebellar ataxia
Tags
Amber Amber List (moderate evidence)
MTPAP
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Amber
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Ataxia, spastic, 4,
  • Autosomal recessive spastic ataxia 4, 613672
Tags
Amber Amber List (moderate evidence)
PLD3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
  • GeneReviews
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)
PRKCG
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Spinocerebellar ataxia 14, MIM# 605361
Tags
Amber Amber List (moderate evidence)
PRPS1
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 Review Amber
  • Expert list
  • Literature
Phenotypes
  • Cerebellar ataxia, neuropathy, and vestibular areflexia syndrome MIM#614575
Tags
  • STR
Amber Amber List (moderate evidence)
RFXANK
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Progressive Ataxia and Neurologic Regression
  • MHC class II deficiency, complementation group B MIM#209920
Tags
Amber Amber List (moderate evidence)
SDHA
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Neurodegeneration with ataxia and late-onset optic atrophy, MIM# 619259
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)
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)
TMEM138
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Joubert syndrome 16, MIM# 614465
Tags
Amber Amber List (moderate evidence)
TMEM231
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Joubert syndrome 20, MIM# 614970
  • Meckel syndrome 11 615397
Tags
Amber Amber List (moderate evidence)
TRPC3
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
  • GeneReviews
Tags
Amber Amber List (moderate evidence)
UBA5
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • ?Autosomal recessive spinocerebellar ataxia 24, 617133
  • Early infantile epileptic encephalopathy 44, 617132
Tags
Amber Amber List (moderate evidence)
UBR4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Episodic ataxia type 8
Tags
Amber Amber List (moderate evidence)
UBR4
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Episodic ataxia
  • Episodic ataxia type 8, 616055
Tags
Amber Amber List (moderate evidence)
VAMP1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Royal Melbourne Hospital
Phenotypes
  • Autosomal dominant spastic ataxia 1, 108600
  • Spastic ataxia 1, autosomal dominant, 108600
Tags
  • founder
Amber Amber List (moderate evidence)
VRK1
1 review
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Pontocerebellar hypoplasia type 1A, 607596
Tags
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)
AMPD2
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Other
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 9, 615809
Tags
Red Red List (low evidence)
ARL6
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 3, 600151
Tags
Red Red List (low evidence)
ARMC9
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Joubert syndrome 30, MIM#617622
Tags
Red Red List (low evidence)
ATP1A2
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Alternating hemiplegia of childhood 1, 104290
  • Familial hemiplegic migraine 2, 602481
Tags
Red Red List (low evidence)
ATP7B
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Wilson disease 277900
  • Wilson disease, 277900
Tags
Red Red List (low evidence)
BBS10
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 10, 615987
Tags
Red Red List (low evidence)
BBS12
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 12, 615989
Tags
Red Red List (low evidence)
BBS2
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 2, 615981
Tags
Red Red List (low evidence)
BBS4
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 4, 615982
Tags
Red Red List (low evidence)
BBS5
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 5, 615983
Tags
Red Red List (low evidence)
BBS7
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 7, 615984
Tags
Red Red List (low evidence)
BBS9
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 9, 615986
Tags
Red Red List (low evidence)
CACNB4
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Episodic ataxia type 5, 613855
Tags
Red Red List (low evidence)
CACNB4
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Episodic ataxia, type 5 MIM#613855
Tags
Red Red List (low evidence)
CCDC28B
3 reviews
2 red 		Other
Sources
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • {Bardet-Biedl syndrome 1, modifier of}, 209900
Tags
Red Red List (low evidence)
CHCHD10
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • autosomal dominant mitochondrial myopathy with exercise intolerance MONDO:0014532
Tags
Red Red List (low evidence)
CHMP1A
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • 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 Review Red
  • Expert list
  • 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 Review Red
  • Expert list
  • 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 Review Red
  • Literature
  • Expert list
Phenotypes
  • epilepsy
  • developmental delay
  • cerebellar ataxia
  • structural brain abnormalities
  • oral motor difficulty
Tags
Red Red List (low evidence)
EEF2
2 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • GeneReviews
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Spinocerebellar ataxia 26
Tags
Red Red List (low evidence)
ELOVL1
3 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, 618527
Tags
Red Red List (low evidence)
EXOSC3
2 reviews
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia, type 1B, 614678
Tags
Red Red List (low evidence)
HARS2
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Perrault syndrome 2, MIM# 614926
Tags
Red Red List (low evidence)
IFRD1
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • 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
  • Royal Melbourne Hospital
  • GeneReviews
  • Expert Review Red
  • 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)
PCDH12
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Royal Melbourne Hospital
  • GeneReviews
  • Victorian Clinical Genetics Services
Phenotypes
  • cerebellar ataxia, dystonia, retinopathy, and dysmorphism
Tags
Red Red List (low evidence)
PCYT2
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • global developmental delay
  • regression
  • spastic parapesis or tetraparesis
  • epilepsy
  • progressive cerebral and cerebellar atrophy
Tags
Red Red List (low evidence)
PIK3R5
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review Red
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Ataxia-oculomotor apraxia 3, OMIM #615217
Tags
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 Review Red
  • Expert list
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 Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Chylomicron retention disease, 246700
Tags
Red Red List (low evidence)
SEPSECS
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • 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
  • Royal Melbourne Hospital
  • GeneReviews
  • Expert Review Red
  • 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
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia 35, 613908
  • Spinocerebellar ataxia 35
Tags
  • refuted
Red Red List (low evidence)
TPR
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Intellectual developmental disorder, autosomal recessive 79, MIM# 620393
Tags
Red Red List (low evidence)
TRIM32
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110
  • ?Bardet-Biedl syndrome 11, 615988
Tags
Red Red List (low evidence)
TSEN2
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Pontocerebellar hypoplasia type 2B, 612389
Tags
Red Red List (low evidence)
TSEN34
2 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Pontocerebellar hypoplasia type 2C, 612390
Tags
Red Red List (low evidence)
TSEN54
2 reviews
2 red 		MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Red
  • Expert list
Phenotypes
  • adult-onset cerebellar ataxia
Tags
Red Red List (low evidence)
TTC8
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Bardet-Biedl syndrome 8, 615985
Tags
Red Red List (low evidence)
TUBA1A
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)
VWA3B
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
  • GeneReviews
Phenotypes
  • ?Spinocerebellar ataxia, autosomal recessive 22
Tags
Red Red List (low evidence)
WDPCP
2 reviews
1 green 1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Red
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • ?Bardet-Biedl syndrome 15, 615992
  • ?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085
Tags
Red Red List (low evidence)
ZNF423
3 reviews
2 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert Review Red
  • Royal Melbourne Hospital
  • Victorian Clinical Genetics Services
Phenotypes
  • Nephronophthisis 14
Tags
Red Red List (low evidence)
ZNF592
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
No list No list
ATN1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Removed
  • Expert list
  • Expert Review Green
  • 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 Review Removed
  • Expert list
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 Review Removed
  • Expert list
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 Review Removed
  • Expert list
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 Review Removed
  • Expert list
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 Review Removed
  • Expert list
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 Review Removed
  • Expert list
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 Review Removed
  • Expert list
  • 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 Review Red
  • Expert Review Removed
  • Expert list
  • 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 Review Removed
  • Expert list
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 Review Removed
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 17 MIM#607136
Tags
  • STR

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