Description
This panel is a component of super panels 'Hereditary ataxia and cerebellar anomalies - childhood onset', 'Cerebral malformations' & 'Movement disorders - childhood onset'; it is not directly used for analysis in the NHS Genomic Medicine Service outside that context. Changes made to this panel will automatically be updated in the relevant super panel(s).

The content of this panel (version 2.2: https://panelapp.genomicsengland.co.uk/api/v1/panels/477/?version=2.2) was signed off under NHS Genomic Medicine Service governance on (02/03/2020).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process.  The content that is agreed for the GMS panels will be reflected in an updated version number.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

This panel was originally created from the following gene panels: 
- Hereditary ataxia (v1.148, code 20)
- Cerebellar hypoplasia (v1.25, code 286)
 
For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K 

Changes made to this panel will automatically be updated in the relevant super panel(s).  
This panel will continue to be curated. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process for the GMS panels.

7 reviewers

  • Ellen Thomas (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Rebecca Foulger (Genomics England curator)

    Group: Other
    Workplace: Other

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Zornitza Stark (Australian Genomics)

    Group: Other
    Workplace: Other clinical service

  • Arina Puzriakova (Genomics England Curator)

    Group: Other
    Workplace: Other

258 Entities

79 reviewed, 156 green

List Entity Reviews Mode of inheritance Details
258 Entitiess
Green Green List (high evidence)
AAAS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Achalasia-addisonianism-alacrimia syndrome, 231550
Tags
Green Green List (high evidence)
ABCB7
0 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 Green
Phenotypes
  • Anemia, sideroblastic, with ataxia,
  • Sideroblastic Anemia and Ataxia
Tags
Green Green List (high evidence)
ABHD12
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Polyneuropathy, Hearing Loss, Ataxia, Retinitis Pigmentosa and Cataract (PHARC)
  • Polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract
Tags
Green Green List (high evidence)
ADGRG1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Polymicrogyria, bilateral frontoparietal 606854
Tags
Green Green List (high evidence)
AFG3L2
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 28
  • Spinocerebellar Ataxia, Dominant
  • Ataxia, spastic, 5, autosomal recessive
Tags
Green Green List (high evidence)
AMPD2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spastic paraplegia homozygous frameshift reported in single family (Novarino et al, 2014).
  • pontocerebellar hypoplasia type 9, 615809
  • Pontocerebellar hypoplasia 9 (#615809)
Tags
Green Green List (high evidence)
ANO10
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 10,
Tags
Green Green List (high evidence)
AP1S2
0 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 Green
Phenotypes
  • Mental retardation, X-linked syndromic 5, 304340
Tags
Green Green List (high evidence)
APTX
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ataxia with Oculomotor Apraxia
  • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
Tags
Green Green List (high evidence)
ARSA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Metachromatic leukodystrophy (#250100)
Tags
Green Green List (high evidence)
ATCAY
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ataxia, cerebellar, Cayman type
  • Cerebellar Ataxia, Cayman type
Tags
Green Green List (high evidence)
ATM
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ataxia-telangiectasia,
  • Ataxia-Telangiectasia
Tags
Green Green List (high evidence)
ATN1_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Dentatorubro-pallidoluysian atrophy 125370
Tags
  • STR
Green Green List (high evidence)
ATP1A3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Cerebellar ataxia, areflexia, pes cavus, optic atrophy and sensorineural hearing loss (CAPOS, #601338)
  • Alternating hemiplegia of childhood 2 (#614820) and Dystonia 12 (#128235)
Tags
Green Green List (high evidence)
ATXN10_ATTCT
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 10 603516
Tags
  • STR
Green Green List (high evidence)
ATXN1_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 1 164400
Tags
  • STR
Green Green List (high evidence)
ATXN2_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 2 183090
Tags
  • STR
Green Green List (high evidence)
ATXN3_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Machado-Joseph disease 109150
Tags
  • STR
Green Green List (high evidence)
ATXN7_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 7 164500
Tags
  • STR
Green Green List (high evidence)
B3GALNT2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies typeA 11
  • congenital muscular dystrophies
Tags
Green Green List (high evidence)
CA8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3 613227
  • Cerebellar ataxia and mental retardation with or without quadrupedal locomotion 3
Tags
Green Green List (high evidence)
CACNA1A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Migraine, familial hemiplegic, 1, with progressive cerebellar ataxia
  • Spinocerebellar ataxia 6
  • Episodic ataxia, type 2
Tags
Green Green List (high evidence)
CACNA1A_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 6 183086
Tags
  • STR
Green Green List (high evidence)
CACNA1G
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 42 616795
Tags
Green Green List (high evidence)
CAMTA1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Cerebellarataxia, nonprogressive, with mental retardation, 614756
Tags
Green Green List (high evidence)
CASK
0 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 Green
Phenotypes
  • FG syndrome 4, 300422
  • Mental retardation, with or without nystagmus
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia
  • Pontocerebellar Hypoplasia
  • FG syndrome 4
  • Mental retardation and microcephaly with pontine and cerebellar hypoplasia, 300749
  • Mental retardation, with or without nystagmus, 300422
Tags
Green Green List (high evidence)
CHMP1A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia, type 8, 614961
Tags
Green Green List (high evidence)
CLCN2
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • {Epilepsy, juvenile absence, susceptibility to, 2}, 607628
  • {Epilepsy, idiopathic generalized, susceptibility to, 11}, 607628
  • {Epilepsy, juvenile myoclonic, susceptibility to, 8}, 607628
  • Leukoencephalopathy with ataxia, 615651
Tags
Green Green List (high evidence)
CLN6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 6, 601780
  • Ceroid lipofuscinosis, neuronal, Kufs type, adult onset, 204300
Tags
Green Green List (high evidence)
COQ8A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Coenzyme Q10 deficiency, primary 4, 612016
  • Spinocerebellar Ataxia Type
Tags
Green Green List (high evidence)
COX20
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex IV deficiency, 220110
Tags
Green Green List (high evidence)
CP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cerebellar ataxia, 604290
  • Hemosiderosis, systemic, due to aceruloplasminemia, 604290
Tags
Green Green List (high evidence)
CSTB_CCCCGCCCCGCG
STR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg) 254800
Tags
  • STR
Green Green List (high evidence)
CTBP1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Hypotonia, ataxia, developmental delay, and tooth enamel defect syndrome, 617915
Tags
  • missense
Green Green List (high evidence)
CWF19L1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 17, 616127
Tags
Green Green List (high evidence)
CYP27A1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cerebrotendinous xanthomatosis, 213700
Tags
Green Green List (high evidence)
CYP2U1
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Autosomal recessive spastic paraplegia 56 (#615030) complex form of disorder, ataxia not yet identified in affected patients.
Tags
Green Green List (high evidence)
DARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, 611105
Tags
Green Green List (high evidence)
DDHD2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
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.
Tags
Green Green List (high evidence)
DKC1
1 review
1 red
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
Phenotypes
  • X-linked dyskeratosis congenita
Tags
Green Green List (high evidence)
DNAJC19
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • 3-methylglutaconic aciduria, type V
Tags
Green Green List (high evidence)
DNAJC5
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 4, Parry type
Tags
Green Green List (high evidence)
DNMT1
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant,
Tags
Green Green List (high evidence)
EIF2B1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
  • Childhood Ataxia with Central Nervous System Hypomyelination/Vanishing White Matter
Tags
Green Green List (high evidence)
EIF2B2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
  • Leukoencephalopathy with vanishing white matter, 603896
Tags
Green Green List (high evidence)
EIF2B3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Tags
Green Green List (high evidence)
EIF2B4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Tags
Green Green List (high evidence)
EIF2B5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Childhood ataxia with central nervous system hypomyelination/vanishing white matter disease
Tags
Green Green List (high evidence)
ELOVL4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 34
Tags
Green Green List (high evidence)
EPM2A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epilepsy, progressive myoclonic 2A (Lafora)
Tags
Green Green List (high evidence)
EXOSC3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar Hypoplasia
  • Pontocerebellar hypoplasia, type 1B, 614678
  • Pontocerebellar Hypoplasia type 1B
Tags
Green Green List (high evidence)
FGF14
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 27
Tags
Green Green List (high evidence)
FKRP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
Green Green List (high evidence)
FKTN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Fukuyama Congenital Muscular Dystrophy
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
  • Fukuyama congenital muscular dystrophy
Tags
Green Green List (high evidence)
FLVCR1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Posterior Column Ataxia with Retinitis Pigmentosa
  • Ataxia, posterior column, with retinitis pigmentosa,
Tags
Green Green List (high evidence)
FMR1
0 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 Green
Phenotypes
  • FMR1-related disorders include fragile X syndrome, fragile X-associated tremor/ataxia syndrome (FXTAS), and FMR1-related premature ovarian insufficiency (POI)
  • males with a tremor phenotype
  • FragileXtremor/ataxiasyndrome,300623
Tags
Green Green List (high evidence)
FOLR1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Neurodegeneration due to cerebral folate transport deficiency, 613068
Tags
Green Green List (high evidence)
FXN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Friedreichataxia,229300Friedreichataxiawithretainedreflexes,229300
Tags
Green Green List (high evidence)
FXN_GAA
STR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Friedreich ataxia 229300
Tags
  • STR
Green Green List (high evidence)
GBA2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spastic paraplegia 46, autosomal recessive, 614409
Tags
Green Green List (high evidence)
GFAP
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Autosomal Dominant Ataxia
  • Alexander disease
Tags
Green Green List (high evidence)
GJC2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 2
  • Autosomal Recessive Ataxia
Tags
Green Green List (high evidence)
GMPPB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
Green Green List (high evidence)
GOSR2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epilepsy, progressive myoclonic 6, 614018
Tags
Green Green List (high evidence)
GPAA1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Glycosylphosphatidylinositol biosynthesis defect 15, 617810
Tags
Green Green List (high evidence)
GRID2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 18, 616204
Tags
Green Green List (high evidence)
GRM1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 13
Tags
Green Green List (high evidence)
HEXA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • GM2-gangliosidosis, several forms, 272800
  • Tay-Sachs disease, 272800
Tags
Green Green List (high evidence)
HEXB
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Sandhoff disease, infantile, juvenile, and adult forms, 268800
Tags
Green Green List (high evidence)
HTT_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Huntington disease 143100
Tags
  • STR
Green Green List (high evidence)
15q11q13 recurrent (PWS/AS) region (BP1-BP3, Class 1) Loss
ISCA-37404-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • microcephaly
  • Developmental delay, muscle weakness
  • 176270
  • 105831
  • Angelman syndrome
  • Prader-Willi syndrome
  • Mental retardation
Tags
Green Green List (high evidence)
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Gain
ISCA-37478-Gain
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • autism, mental retardation, ataxia, seizures, developmental delays, and behavioral problems
  • hypotonia and motor delays, intellectual disability, autism spectrum disorder (ASD), and epilepsy including infantile spasms, 608636
  • chromosome 15q11-q13 duplication syndrome
Tags
Green Green List (high evidence)
15q11q13 recurrent (PWS/AS) region (BP2-BP3, Class 2) Loss
ISCA-37478-Loss
Region
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • microcephaly
  • Developmental delay, muscle weakness
  • 176270
  • Angelman syndrome
  • Prader-Willi syndrome
  • 105830
  • Mental retardation
Tags
Green Green List (high evidence)
ISPD
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital Muscular Dystrophy, alpha-dystroglycan related
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
  • new-gene-name
Green Green List (high evidence)
ITPR1
0 reviews
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 29
  • Gillespie syndrome 206700
  • Spinocerebellar ataxia 15
  • Spinocerebellar ataxia 29, congenital nonprogressive
Tags
Green Green List (high evidence)
KCNA1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Episodic ataxia/myokymia syndrome,
Tags
Green Green List (high evidence)
KCNC3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 13
Tags
Green Green List (high evidence)
KCND3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellarataxia19,607346
Tags
Green Green List (high evidence)
KCNJ10
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Seizures, Sensorineural Deafness, Ataxia, Mental Retardation, and Electrolyte Imbalance Syndrome
Tags
Green Green List (high evidence)
KIF1C
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spastic ataxia 2,autosomal recessive
Tags
Green Green List (high evidence)
LARGE1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital Muscular Dystrophy, alpha-dystroglycan related
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
Green Green List (high evidence)
MARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spastic ataxia 3, autosomal recessive
Tags
Green Green List (high evidence)
MMACHC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ataxia and hypogonadism
  • Methylmalonic aciduria and homocystinuria, cblC type, 277400
Tags
Green Green List (high evidence)
MORC2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Axonal type CMT disease type 2Z, 616688
Tags
Green Green List (high evidence)
MRE11
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ataxia-telangiectasia-like disorder
  • Ataxia-Telangiectasia-Like Disorder
Tags
Green Green List (high evidence)
MT-ATP6
0 reviews
MITOCHONDRIAL
Sources
  • Expert Review Green
Phenotypes
  • Neuropathy, Ataxia, and Retinitis Pigmentosa
Tags
Green Green List (high evidence)
MTTP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Abetalipoproteinemia, 200100
Tags
Green Green List (high evidence)
NHLRC1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Epilepsy, progressive myoclonic 2B (Lafora)
Tags
Green Green List (high evidence)
NKX6-2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy
Tags
Green Green List (high evidence)
NOP56_GGCCTG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 36 614153
Tags
  • STR
Green Green List (high evidence)
NPC1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Niemann-Pick disease types C1 and D (#257220)
Tags
Green Green List (high evidence)
NPC2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Niemann-Pick disease type C2, 607625
Tags
Green Green List (high evidence)
OPA3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Costeff syndrome
  • 3-methylglutaconic aciduria, type III, 258501
Tags
Green Green List (high evidence)
OPHN1
0 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 Green
Phenotypes
  • XLMR with Cerebellar Hypoplasia and Distinctive Facial Appearance
  • Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486
  • Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance
Tags
Green Green List (high evidence)
PAX6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Aniridia, Cerebellar Ataxia, And Mental Retardation
Tags
Green Green List (high evidence)
PDYN
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 23
Tags
Green Green List (high evidence)
PEX16
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Zellweger syndrome (614876)
  • Peroxisome biogenesis disorder 8B (#614877) infantile progressive ataxia and spastic paresis
Tags
Green Green List (high evidence)
PLA2G6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Infantile neuroaxonal dystrophy 1 (#256600)
  • Parkinson disease 14 (#612953)
  • Neurodegeneration with brain iron accumulation 2B (#610217)
Tags
Green Green List (high evidence)
PMPCA
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 2 213200 AR
  • Non-progressive cerebellar ataxia recessive variants identified in 17 patients from four different families.
Tags
Green Green List (high evidence)
PNKP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ataxia with oculomotor apraxia 4 (#616267)
Tags
Green Green List (high evidence)
PNPLA6
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, hypogonadotropic hypogonadism and chorioretinal dystrophy (Boucher-Neuhauser syndrome, #215470)
  • Oliver-McFarlane syndrome (#603197)
  • Autosomal recessive spastic paraplegia 39 (#612020), ataxia seen in some patients
Tags
Green Green List (high evidence)
POLG
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE)
Tags
Green Green List (high evidence)
POLR3A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism
  • Autosomal Recessive Ataxia
Tags
Green Green List (high evidence)
POMGNT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital Muscular Dystrophy, alpha-dystroglycan related
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
Green Green List (high evidence)
POMGNT2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies type
Tags
Green Green List (high evidence)
POMT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670
Tags
Green Green List (high evidence)
POMT2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
Green Green List (high evidence)
PPP2R2B_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 12 604326
Tags
  • STR
Green Green List (high evidence)
PRKCG
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 14
Tags
Green Green List (high evidence)
PRNP
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Creutzfeldt-Jakob disease
  • Autosomal Dominant Ataxia
  • Gerstmann-Straussler disease
  • Huntington disease-like 1
  • Insomnia, fatal familial
Tags
Green Green List (high evidence)
PRRT2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Convulsions, familial infantile, with paroxysmal choreoathetosis, 602066
  • Episodic kinesigenic dyskinesia 1, 128200
  • Seizures, benign familial infantile, 2, 605751
Tags
Green Green List (high evidence)
PTF1A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pancreatic and cerebellar agenesis, 609069
Tags
Green Green List (high evidence)
RARS2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • epilepsy
  • Pontocerebellar hypoplasia, type 6, 611523
  • Pontocerebellar Hypoplasia type 6
  • Pontocerebellar hypoplasia
  • Pontocerebellar Hypoplasia
Tags
Green Green List (high evidence)
RELN
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Lissencephaly 2, 257320
Tags
Green Green List (high evidence)
RNF170
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Ataxia, sensory, 1, autosomal dominant
Tags
Green Green List (high evidence)
RNF216
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cerebellar ataxia and hypogonadotropic hypogonadism, 212840
Tags
Green Green List (high evidence)
ROBO3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Gaze palsy, familial horizontal, with progressive scoliosis, 1
Tags
Green Green List (high evidence)
SACS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spastic ataxia, Charlevoix-Saguenay type
Tags
Green Green List (high evidence)
SAR1B
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Chylomicron retention disease
Tags
Green Green List (high evidence)
SEPSECS
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar Hypoplasia
  • Pontocerebellar hypoplasia type 2D (613811)
  • Pontocerebellar hypoplasia type 2D, 613811
  • Pontocerebellar Hypoplasia type 2D
Tags
Green Green List (high evidence)
SETX
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ataxia-ocular apraxia-2
  • ataxia with oculomotor apraxia type 2 (AOA2), juvenile amyotrophic lateral sclerosis (ALS4) and autosomal dominant ataxia
Tags
Green Green List (high evidence)
SIL1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Marinesco-Sjogren syndrome, 248800
Tags
Green Green List (high evidence)
SLC1A3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Episodic ataxia, type 6,
Tags
Green Green List (high evidence)
SLC2A1
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Dystonia 9, 601042
  • GLUT1 deficiency syndrome 1, infantile onset, severe, 606777
  • GLUT1 deficiency syndrome 2, childhood onset, 612126
  • Stomatin-deficient cryohydrocytosis with neurologic defects, 608885
Tags
Green Green List (high evidence)
SLC9A6
0 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 Green
Phenotypes
  • Mental retardation, X-linked syndromic, Christianson type, 300243
Tags
Green Green List (high evidence)
SNX14
0 reviews
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Autosomal recessive spinocerebellar ataxia (#616354)
  • Spinocerebellar ataxia, autosomal recessive 20, 616354
Tags
Green Green List (high evidence)
SPG7
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spastic paraplegia 7 (#607259) complex forms of the disease. Actually associated with a range of phenotypes including adult-onset ataxia
Tags
Green Green List (high evidence)
SPTBN2
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 5 (AD)
  • Spinocerebellar ataxia, autosomal recessive 14
  • SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
  • Spinocerebellar Ataxia, Dominant
  • Spinocerebellar ataxia, autosomal recessive 14 (AR)
  • Spinocerebellar ataxia 5
  • SPINOCEREBELLAR ATAXIA 5 (autosomal dominant)
Tags
Green Green List (high evidence)
SRD5A3
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Congenital disorder of glycosylation, type Iq, 612379
  • Kahrizi syndrome, 612713
Tags
Green Green List (high evidence)
STUB1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 16
  • Spinocerebellar ataxia, autosomal recessive 16 615768
Tags
Green Green List (high evidence)
SYNE1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cerebellar Ataxia
  • Spinocerebellar ataxia, autosomal recessive 8
Tags
Green Green List (high evidence)
TBP_CAG
STR
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 17 607136
Tags
  • STR
Green Green List (high evidence)
TGM6
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 35, 613908
Tags
Green Green List (high evidence)
TINF2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Dyskeratosis congenita, autosomal dominant 3 613990
Tags
Green Green List (high evidence)
TMEM240
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 21, 607454
Tags
Green Green List (high evidence)
TMEM5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type
Tags
  • new-gene-name
Green Green List (high evidence)
TOE1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia, type 7 614969
Tags
Green Green List (high evidence)
TPP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Autosomal recessive spinocerebellar ataxia 7 (#607998)
  • Neuronal ceroid lipfuscinosis 7 (204500)
Tags
Green Green List (high evidence)
TSEN2
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar Hypoplasia
  • Pontocerebellar hypoplasia type 2B,612389
  • Pontocerebellar Hypoplasia type 2B
  • Pontocerebellar hypoplasia 2B (612389)
Tags
Green Green List (high evidence)
TSEN34
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar hypoplasia type 2C,612390
  • Pontocerebellar Hypoplasia type 2C
  • Pontocerebellar hypoplasia 2C (612390)
  • Pontocerebellar Hypoplasia
Tags
Green Green List (high evidence)
TSEN54
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar Hypoplasia type 2A
  • Pontocerebellar hypoplasia 2A (#277470) and 4 (#225753)
  • Pontocerebellar hypoplasia type 2A, 277470
  • Pontocerebellar Hypoplasia type 4
  • Pontocerebellar hypoplasia type 4, 225753
  • Pontocerebellar Hypoplasia
  • Pontocerebellar Hypoplasia type 5
Tags
Green Green List (high evidence)
TTBK2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 11
Tags
Green Green List (high evidence)
TTC19
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Mitochondrial complex III deficiency, nuclear type 2, 615157
Tags
Green Green List (high evidence)
TTPA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Ataxia with isolated vitamin E deficiency
  • Ataxia with Vitamin E Deficiency
Tags
Green Green List (high evidence)
TUBA1A
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Lissencephaly 3 6,1603
Tags
Green Green List (high evidence)
TUBB2B
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • complex cortical dysplasia with other brain malformations-7 , 610031
Tags
Green Green List (high evidence)
TUBB3
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 1 614039
Tags
Green Green List (high evidence)
TUBB4A
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
Phenotypes
  • Leukodystrophy, hypomyelinating, 6, 612438
  • Dystonia 4, torsion, autosomal dominant, 128101
Tags
Green Green List (high evidence)
TWNK
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar Ataxia, Recessive
  • Ataxia Neuropathy Spectrum Disorders, Dominant
  • Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286
  • Perrault syndrome 5, 616138
  • Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245
Tags
Green Green List (high evidence)
VLDLR
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050
  • Cerebellar Hypoplasia
Tags
Green Green List (high evidence)
VPS13D
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 4, 607317
Tags
Green Green List (high evidence)
VRK1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pontocerebellar Hypoplasia type 1A
  • Pontocerebellar Hypoplasia with infantile SMA
  • Pontocerebellar Hypoplasia with anterior horn cell disease
  • Pontocerebellar Hypoplasia
  • Pontocerebellar hypoplasia 1A (#607596)
  • Pontocerebellar hypoplasia type 1A,607596
Tags
Green Green List (high evidence)
WDR73
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Galloway Mowat syndrome, when patients are ambulant ataxia is a recognised feature
  • Galloway-Mowat syndrome 1, 251300
Tags
Green Green List (high evidence)
WDR81
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2
Tags
Green Green List (high evidence)
WFS1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Wolfram syndrome 1, 222300
Tags
Green Green List (high evidence)
WWOX
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Autosomal recessive spinocerebellar ataxia 12, 614322
Tags
Amber Amber List (moderate evidence)
ATP8A2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4 615268
Tags
Amber Amber List (moderate evidence)
B4GAT1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 13, 615287
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), typeA, 13, 615287
Tags
Amber Amber List (moderate evidence)
COASY
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Severe prenatal onset pontocerebellar hypoplasia, microcephaly, arthrogryposis
Tags
Amber Amber List (moderate evidence)
COG5
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Congenital disorder of glycosylation, type IIi
Tags
Amber Amber List (moderate evidence)
DAG1
0 reviews
Unknown
Sources
  • Expert Review Amber
Phenotypes
  • congenital muscular dystrophies
Tags
Amber Amber List (moderate evidence)
DCC
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Gaze palsy, familial horizontal, with progressive scoliosis 2, 617542
Tags
Amber Amber List (moderate evidence)
DMXL2
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
Phenotypes
  • Sensorineural Hearing Loss
  • ORPHA90636
  • OMIM:612186
Tags
Amber Amber List (moderate evidence)
EXOSC5
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Short stature
  • Motor developmental delays
  • Cerebellar hypoplasia
  • Ataxia
Tags
Amber Amber List (moderate evidence)
HARS
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Multisystem ataxic syndrome
  • Intellectual disability
Tags
  • new-gene-name
Amber Amber List (moderate evidence)
LARS2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Perrault syndrome 4, MIM# 615300
  • Hydrops, lactic acidosis, and sideroblastic anemia, MIM# 617021
  • Leukodystrophy
Tags
  • for-review
Amber Amber List (moderate evidence)
MVK
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Mevalonic aciduria 610377
Tags
Amber Amber List (moderate evidence)
PHGDH
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Neu-Laxova syndrome 1, 256520
Tags
Amber Amber List (moderate evidence)
SMPD4
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • cerebellar hypoplasia, hypomyelination, microcephaly, arthrogryposis, diabetes
Tags
Amber Amber List (moderate evidence)
TERT
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • dyskeratosis congenita-2
Tags
Amber Amber List (moderate evidence)
TUBA8
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Polymicrogyria with optic nerve hypoplasia, 613180
Tags
Amber Amber List (moderate evidence)
VAMP1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
Phenotypes
  • Spastic ataxia 1, autosomal dominant, 108600
Tags
Amber Amber List (moderate evidence)
VPS53
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
Phenotypes
  • Pontocerebellar Hypoplasia
  • Pontocerebellar Hypoplasia type 2E
  • Pontocerebellar hypoplasia 2E (#615851)
Tags
Red Red List (low evidence)
AARS
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Tags
  • new-gene-name
Red Red List (low evidence)
ALAS2
0 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 Red
Tags
Red Red List (low evidence)
ATN1
0 reviews
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
ATP2B3
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia, X-linked 1
Tags
Red Red List (low evidence)
ATXN1
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellarataxia1,164400
Tags
Red Red List (low evidence)
ATXN10
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellarataxia10,603516
Tags
Red Red List (low evidence)
ATXN2
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellarataxia2,183090{Amyotrophiclateralsclerosis,susceptibilityto,13},183090
Tags
Red Red List (low evidence)
ATXN3
0 reviews
Unknown
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
ATXN7
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellarataxia7,164500
Tags
Red Red List (low evidence)
ATXN8
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 8
Tags
  • ensembl_ids_known_missing
Red Red List (low evidence)
BEAN1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 31 117210
Tags
Red Red List (low evidence)
BRF1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Cerebellofaciodental syndrome 616202
Tags
Red Red List (low evidence)
CACNB4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Episodic ataxia, type 5
  • Episodic Ataxia
Tags
Red Red List (low evidence)
CCDC88C
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • autosomal dominant spinocerebellar ataxia
Tags
Red Red List (low evidence)
CDK5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Lissencephaly 7 with cerebellar hypoplasia 616342
Tags
Red Red List (low evidence)
CLP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Pontocerebellar Hypoplasia
  • Pontocerebellar hypoplasia 10 (#615803)
  • Pontocerebellar Hypoplasia type 10
Tags
Red Red List (low evidence)
CSTB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800
Tags
Red Red List (low evidence)
DAB1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 37
Tags
Red Red List (low evidence)
DYNC1H1
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Charcot Marie Tooth, SMA, Intellectual disability
Tags
Red Red List (low evidence)
ELOVL5
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia 36 (#615957)
Tags
Red Red List (low evidence)
EXOSC8
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Pontocerebellar hypoplasia,type 1C, 616081
Tags
Red Red List (low evidence)
FRMD4A
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia, 616819
Tags
Red Red List (low evidence)
MTPAP
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Ataxia, spastic, 4,
Tags
Red Red List (low evidence)
NAGLU
0 reviews
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Sensory neuropathy turning into a mild sensory ataxia (AD). Also Sanfilippo syndrome B (AR) (OMIM #252920)
Tags
Red Red List (low evidence)
NMNAT2
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • hydrops fetalis
  • cystic hygroma
  • bilateral hypoplastic lungs
  • hydrocephalus
  • hypoplastic cerebellum
  • severely reduced skeletal muscle mass or absence
  • flexion contractures of all extremities
  • micrognathia
  • cleft palate
  • hydropic placenta
Tags
Red Red List (low evidence)
NOP56
0 reviews
Other - please specifiy in evaluation comments
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellarataxia36,614153
Tags
Red Red List (low evidence)
PAX2
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Ataxia,spastic2,autosomalrecessive(2)
Tags
Red Red List (low evidence)
PCLO
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Pontocerebellar Hypoplasia type 3
  • Pontocerebellar hypoplasia 3 homozygous non-sense variant identified in the affected individuals of a single pedigree.
Tags
Red Red List (low evidence)
PI4KA
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis , 616531
Tags
Red Red List (low evidence)
PIK3R5
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Ataxia-oculomotor apraxia 3
Tags
Red Red List (low evidence)
POMK
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 615249
Tags
Red Red List (low evidence)
PPP2R2B
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellarataxia12,604326
Tags
Red Red List (low evidence)
PRICKLE1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Progressive Myoclonus Epilepsy with Ataxia
Tags
Red Red List (low evidence)
RUBCN
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Tags
Red Red List (low evidence)
SCN8A
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Cognitive impairment with or without cerebellar ataxia, 614306
Tags
Red Red List (low evidence)
SYT14
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellarataxia,autosomalrecessive11,614229
Tags
Red Red List (low evidence)
TBP
0 reviews
Unknown
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellarataxia17,607136{Parkinsondisease,susceptibilityto},168600
Tags
Red Red List (low evidence)
TDP1
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive with axonal neuropathy
Tags
Red Red List (low evidence)
TSEN15
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Pontocerebellar hypoplasia, type 2F 617026
Tags
Red Red List (low evidence)
TUBB
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Cortical dysplasia, complex, with other brain malformations 6, 615771
Tags
Red Red List (low evidence)
UBR4
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • Episodic ataxia
Tags
Red Red List (low evidence)
UCHL1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Early onset ataxia and optic neuropathy
Tags
Red Red List (low evidence)
XRCC1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • ocular motor apraxia, axonal neuropathy, and progressive cerebellar ataxia
Tags
Red Red List (low evidence)
ZFYVE26
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Autosomal recessive spastic paraplegia 15 (#270700) complex form of the disease including ataxia. Pyle et al. (2015), Brain, 138, pp.276-283. Implicated in undiagnosed ataxia.
Tags
Red Red List (low evidence)
ZNF592
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 5
Tags
No list No list
ACO2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Infantile cerebellar-retinal degeneration, MIM#614559
Tags
No list No list
ADPRHL2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Neurodegeneration, childhood-onset, stress-induced, with variable ataxia and seizures, MIM#618170
Tags
No list No list
ALDH5A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Succinic semialdehyde dehydrogenase deficiency, MIM# 271980
Tags
No list No list
BBS1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Bardet-Biedl syndrome 1, MIM#209900
Tags
No list No list
CLN5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Ceroid lipofuscinosis, neuronal, 5, MIM# 256731
Tags
No list No list
CLPP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Perrault syndrome 3, MIM# 614129
Tags
No list No list
COA7
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 3, MIM#618387
Tags
No list No list
DOCK3
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with impaired intellectual development, hypotonia, and ataxia, MIM#618292
Tags
No list No list
EBF3
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Hypotonia, ataxia, and delayed development syndrome, MIM# 617330
Tags
No list No list
FA2H
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Spastic paraplegia 35, autosomal recessive MIM#612319
Tags
No list No list
FBXL4
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Mitochondrial DNA depletion syndrome 13 (encephalomyopathic type), MIM# 615471
Tags
No list No list
IRF2BPL
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with regression, abnormal movements, loss of speech, and seizures, MIM# 618088
Tags
No list No list
KCNA2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Early infantile encephalopathy 32, MIM#616366
Tags
No list No list
LAMA1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Cerebellar ataxia, intellectual disability, oculomotor apraxia, cerebellar cysts
  • Poretti Boltshauser syndrome MIM#615960
Tags
No list No list
MSTO1
1 review
1 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Myopathy, mitochondrial, and ataxia, MIM# 617675
Tags
No list No list
MTFMT
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Combined oxidative phosphorylation deficiency 15 MIM#614947
  • Mitochondrial complex I deficiency, nuclear type 27 MIM#618248
Tags
No list No list
NKX2-1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Choreoathetosis, hypothyroidism, and neonatal respiratory distress MIM#610978
  • Chorea, hereditary benign MIM#118700
Tags
No list No list
OPA1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Optic atrophy plus syndrome, MIM# 125250
Tags
No list No list
PITRM1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Ataxia
  • Intellectual disability
Tags
No list No list
PMPCB
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Multiple mitochondrial dysfunctions syndrome 6, MIM# 617954
Tags
No list No list
POLR3B
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 8, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 614381
Tags
No list No list
PTRH2
2 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Other
Phenotypes
  • Infantile-onset multisystem neurologic, endocrine, and pancreatic disease
Tags
No list No list
RORA
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Intellectual developmental disorder with or without epilepsy or cerebellar ataxia, MIM# 618060
Tags
No list No list
SCN1A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208
Tags
No list No list
SCN2A
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Epileptic encephalopathy, early infantile, 11, MIM# 613721
Tags
No list No list
SCYL1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 21, MIM# 616719
Tags
No list No list
SLC17A5
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Sialic acid storage disorder, infantile, MIM# 269920
Tags
No list No list
SLC25A46
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Neuropathy, hereditary motor and sensory, type VIB, MIM# 616505
Tags
No list No list
SLC44A1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • progressive ataxia
  • tremor
  • cognitive decline
  • dysphagia
  • optic atrophy
  • dysarthria
Tags
No list No list
SLC52A2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Brown-Vialetto-Van Laere syndrome 2, MIM# 614707
Tags
No list No list
SLC9A1
1 review
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Lichtenstein-Knorr syndrome, MIM# 616291
Tags
No list No list
SNAP25
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Myasthenic syndrome, congenital, 18, 616330
  • cerebellar ataxia and seizures
Tags
No list No list
SPR
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716
Tags
No list No list
SQSTM1
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Neurodegeneration with ataxia, dystonia, and gaze palsy, childhood-onset, MIM# 617145
Tags
No list No list
SVBP
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Neurodevelopmental disorder with ataxia, hypotonia, and microcephaly, OMIM #618569
Tags
No list No list
TBC1D23
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Pontocerebellar hypoplasia, type 11, MIM# 617695
Tags
No list No list
TDP2
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 23, 616949
Tags
No list No list
THG1L
1 review
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • Cerebellar ataxia
Tags
No list No list
TMEM106B
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Leukodystrophy, hypomyelinating, 16, MIM# 617964
Tags
No list No list
UBTF
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
Phenotypes
  • Neurodegeneration, childhood-onset, with brain atrophy MIM#617672
Tags

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