1. Genes and Genomic Entities
  2. ATXN7

ATXN7

ataxin 7
OMIM: 607640, Gene2Phenotype

21 panels

Panel Reviews Mode of inheritance Details
21 panels
Red ATXN7 in Ataxia and cerebellar anomalies - narrow panel


Version 4.63
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 7, OMIM:164500
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red ATXN7 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
    • Eligibility statement prior genetic testing
    • Radboud University Medical Center, Nijmegen
    • UKGTN
    Phenotypes
    • Spinocerebellar ataxia 7, OMIM:164500
    Tags
    • currently-ngs-unreportable
    • nucleotide-repeat-expansion
    Red ATXN7 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
    • Expert Review Red
    • London North GLH
    • NHS GMS
    • South West GLH
    Phenotypes
    • Spinocerebellar ataxia 7, OMIM:164500
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red ATXN7 in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    		review Other
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Spinocerebellar ataxia 7, OMIM:164500
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red ATXN7 in Likely inborn error of metabolism - targeted testing not possible


    Version 4.137
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review Other
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Spinocerebellar ataxia 7, OMIM:164500
    • Mitochondrial respiratory chain disorders (caused by nuclear variants only)
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red ATXN7 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    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
    • Other
    Phenotypes
    • Spinocerebellar ataxia 7, OMIM:164500
    Tags
    • currently-ngs-unreportable
    • nucleotide-repeat-expansion
    Red ATXN7 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 7, OMIM:164500
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red ATXN7 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.89
    Latest signed off version: v4.0 (22 Mar 2023)

    		review Other
    Sources
    • Expert Review Red
    • NHS GMS
    • RetNet
    Phenotypes
    • Spinocerebellar ataxia 7, OMIM:164500
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Red ATXN7 in Childhood onset dystonia, chorea or related movement disorder


    Version 3.75
    Latest signed off version: v3.0 (22 Mar 2023)

    		review Other
    Sources
    • Expert Review Red
    • London North GLH
    Phenotypes
    • Spinocerebellar ataxia 7, OMIM:164500
    Tags
    • nucleotide-repeat-expansion
    • currently-ngs-unreportable
    Green ATXN7 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 7, 164500
    Green ATXN7_CAG STR in Ataxia and cerebellar anomalies - narrow panel


    Version 4.63
    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 Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 7, OMIM:164500
    Tags
    • STR
    Green ATXN7_CAG 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 7, OMIM:164500
    Tags
    • STR
    Green ATXN7_CAG 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 7, OMIM:164500
    Tags
    • STR
    Amber ATXN7_CAG STR in Childhood onset hereditary spastic paraplegia


    Version 4.42
    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 7, OMIM:164500
    Tags
    • STR
    Green ATXN7_CAG 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
    • NHS GMS
    • South West GLH
    • London North GLH
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 7, OMIM:164500
    Tags
    • STR
    Amber ATXN7_CAG 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
    • Yorkshire and North East GLH
    • NHS GMS
    • South West GLH
    • London North GLH
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 7, OMIM:164500
    Tags
    • STR
    • watchlist
    No list ATXN7_CAG STR in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.617

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Removed
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia 7, OMIM:164500
    Tags
    • STR
    • curated_removed
    Amber ATXN7_CAG 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
    • NHS GMS
    • Expert Review
    • Expert Review Amber
    Phenotypes
    • Spinocerebellar ataxia 7, OMIM:164500
    Tags
    • STR
    No list ATXN7_CAG STR in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.532
    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 7, OMIM:164500
    Tags
    • STR
    • curated_removed
    Green ATXN7_CAG 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 7, OMIM:164500
    Tags
    • STR
    No list ATXN7_CAG STR in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.89
    Latest signed off version: v4.0 (22 Mar 2023)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    Phenotypes
    • Maculopaty
    • Cone-Rod Dystrophy