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


Version 4.64
Latest signed off version: v4.0 (22 Mar 2023)

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 1.20

    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 1.332

    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 1.42

    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 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.65
    Latest signed off version: v4.0 (22 Mar 2023)

    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


    Version 4.47
    Latest signed off version: v4.34 (31 Jul 2023)

    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 - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.557
    Latest signed off version: v5.0 (22 Mar 2023)

    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


    Version 4.34
    Latest signed off version: v4.0 (22 Mar 2023)

    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 1.172

    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


    Version 3.78
    Latest signed off version: v3.0 (22 Mar 2023)

    review Other
    Sources
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Spinocerebellar ataxia 10, OMIM:603516
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Green ATXN10 in Severe Paediatric Disorders


    Version 1.184

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 10, 603516
    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 1.83

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Spinocerebellar ataxia 10, OMIM:603516
    Tags
    • STR
    No list ATXN10_ATTCT STR in Early onset dystonia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.147

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


    Version 4.64
    Latest signed off version: v4.0 (22 Mar 2023)

    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
    Tags
    • STR
    • watchlist
    No list ATXN10_ATTCT STR in Thoracic dystrophies

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 1.20

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

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.332

    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 1.311

    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


    Version 4.43
    Latest signed off version: v4.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Amber
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 10, OMIM:603516
    Tags
    • STR
    No list ATXN10_ATTCT STR in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.65
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

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


    Version 3.21
    Latest signed off version: v3.14 (31 Jul 2023)

    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


    Version 4.47
    Latest signed off version: v4.34 (31 Jul 2023)

    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
    Tags
    • STR
    • watchlist
    Green ATXN10_ATTCT STR in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.477

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert Review
    Phenotypes
    • Spinocerebellar ataxia 10, OMIM:603516
    Tags
    • STR
    No list ATXN10_ATTCT STR in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.557
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

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


    Version 4.34
    Latest signed off version: v4.0 (22 Mar 2023)

    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