ATXN10

ataxin 10
OMIM: 611150, Gene2Phenotype

24 panels

Panel Reviews Mode of inheritance Details
24 panels
Red ATXN10 in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.63
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review Other
    Sources
    • Expert Review Red
    Phenotypes
    • Spinocerebellar ataxia 10, OMIM:603516
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red ATXN10 in Thoracic dystrophies

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.24

    review Other
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • Spinocerebellar ataxia 10, OMIM:603516
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red ATXN10 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.344

    review Other
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spinocerebellar ataxia 10, OMIM:603516
    Tags
    • currently-ngs-unreportable
    • nucleotide-repeat-expansion
    No list ATXN10 in Primary ciliary disorders

    Level 3: Respiratory ciliopathies
    Level 2: Ciliopathies
    Version 1.56

    review Other
    Sources
    • Expert Review Removed
    • Emory Genetics Laboratory
    Phenotypes
    • Spinocerebellar ataxia 10, OMIM:603516
    • Ciliopathies
    Tags
    • nucleotide-repeat-expansion
    • curated_removed
    • currently-ngs-unreportable
    Red ATXN10 in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.34
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review Other
    Sources
    • Emory Genetics Laboratory
    Phenotypes
    • Spinocerebellar ataxia 10, OMIM:603516
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red ATXN10 in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.11
    Latest signed off version: v8.0 (30 Apr 2025)

    review Other
    Sources
    • Yorkshire and North East GLH
    • NHS GMS
    • South West GLH
    • Expert Review Red
    Phenotypes
    • Spinocerebellar ataxia 10, OMIM:603516
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red ATXN10 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review Other
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Spinocerebellar ataxia 10, OMIM:603516
    Tags
    • currently-ngs-unreportable
    • nucleotide-repeat-expansion
    Red ATXN10 in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 8.23
    Latest signed off version: v8.0 (30 Apr 2025)

    review Other
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Red
    • Hereditary ataxia v1.148
    Phenotypes
    • Spinocerebellar ataxia 10, OMIM:603516
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red ATXN10 in Rare multisystem ciliopathy disorders

    Level 3: Congenital malformations caused by ciliopathies
    Level 2: Ciliopathies
    Version 1.180

    review Other
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spinocerebellar ataxia 10, OMIM:603516
    • Ciliopathies
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red ATXN10 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

    review Other
    Sources
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Spinocerebellar ataxia 10, OMIM:603516
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Green ATXN10_ATTCT STR in Early onset dementia (encompassing fronto-temporal dementia and prion disease)

    Level 3: Neurodegenerative disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.84

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Spinocerebellar ataxia 10, OMIM:603516
    Tags
    • STR
    Red ATXN10_ATTCT STR in Early onset dystonia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.152

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    • Expert Review
    Phenotypes
    • Spinocerebellar ataxia 10, OMIM:603516
    Tags
    • STR
    Amber ATXN10_ATTCT STR in Ataxia and cerebellar anomalies - narrow panel


    Level 2: Neurology
    Version 8.63
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 10, OMIM:603516
    • spinocerebellar ataxia type 10, MONDO:0011330
    Tags
    • STR
    • Q2_25_ promote_green
    • Q2_25_expert_review
    Red ATXN10_ATTCT STR in Thoracic dystrophies

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.24

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 10, OMIM:603516
    Tags
    • STR
    Green ATXN10_ATTCT STR in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.344

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 10, OMIM:603516
    Tags
    • STR
    Green ATXN10_ATTCT STR in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.316

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Spinocerebellar ataxia 10, OMIM:603516
    Tags
    • STR
    Amber ATXN10_ATTCT STR in Childhood onset hereditary spastic paraplegia


    Level 2: Neurology
    Version 8.30
    Latest signed off version: v8.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 10, OMIM:603516
    • spinocerebellar ataxia type 10, MONDO:0011330
    Tags
    • STR
    • Q2_25_ promote_green
    • Q2_25_expert_review
    Red ATXN10_ATTCT STR in Skeletal dysplasia


    Level 2: Musculoskeletal
    Version 8.34
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • NHS GMS
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 10, OMIM:603516
    • spinocerebellar ataxia type 10, MONDO:0011330
    Tags
    • STR
    Green ATXN10_ATTCT STR in Adult onset hereditary spastic paraplegia


    Level 2: Neurology
    Version 6.7
    Latest signed off version: v6.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • South West GLH
    • London North GLH
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 10, OMIM:603516
    Tags
    • STR
    Amber ATXN10_ATTCT STR in Adult onset neurodegenerative disorder


    Level 2: Neurology
    Version 8.11
    Latest signed off version: v8.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    • South West GLH
    • London North GLH
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 10, OMIM:603516
    • spinocerebellar ataxia type 10, MONDO:0011330
    Tags
    • STR
    • Q2_25_ promote_green
    Green ATXN10_ATTCT STR in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.506

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Spinocerebellar ataxia 10, OMIM:603516
    Tags
    • STR
    Amber ATXN10_ATTCT STR in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 10, OMIM:603516
    Tags
    • STR
    Green ATXN10_ATTCT STR in Hereditary ataxia with onset in adulthood


    Level 2: Neurology
    Version 8.23
    Latest signed off version: v8.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 10, OMIM:603516
    Tags
    • STR
    Green ATXN10_ATTCT STR in Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Spinocerebellar ataxia 10, OMIM:603516
    Tags
    • STR