CAPRIN1

cell cycle associated protein 1
OMIM: 601178, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Amber CAPRIN1 in Ataxia and cerebellar anomalies - childhood onset


Level 2: Neurology
Version 9.23
Latest signed off version: v9.22 (12 Aug 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies, childhood onset
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636
    Tags
    • watchlist
    Amber CAPRIN1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • NHS GMS
    Phenotypes
    • Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, OMIM:620782
    Green CAPRIN1 in DDG2P


    Version 8.1
    Latest signed off version: v8.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636
    Green CAPRIN1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.61
    Latest signed off version: v9.56 (12 Aug 2026)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, OMIM:620782
    Green CAPRIN1 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.7
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, OMIM:620782
    • Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636