CAPRIN1

cell cycle associated protein 1
OMIM: 601178, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green CAPRIN1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, MIM# 620782
  • Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636

Green CAPRIN1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, MIM# 620782
    • Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636

    Amber CAPRIN1 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert Review
    Phenotypes
    • Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636

    Green CAPRIN1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodevelopmental disorder with language impairment, autism, and attention deficit-hyperactivity disorder, MIM# 620782
    • Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, MIM# 620636