1. Genes and Genomic Entities
  2. CAPRIN1

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 - narrow panel


Version 5.3
Latest signed off version: v5.0 (1 May 2024)

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
    Red CAPRIN1 in Autism


    Version 0.36

    		review Not set
    Sources
    • Expert Review Red
    • SFARI
    Green CAPRIN1 in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    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 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.6
    Latest signed off version: v5.0 (1 May 2024)

    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
    • Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636
    Green CAPRIN1 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.9
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636