CAPRIN1

cell cycle associated protein 1
OMIM: 601178, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

No list CAPRIN1 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.29

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    Phenotypes
    • Childhood Dementia
    • Myoclonus-Ataxia
    • Sensorimotor Neuropathy
    • cerebellar atrophy
    • cortical atrophy

    Green CAPRIN1 in Mendeliome


    Version 1.2302

    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 1.108

    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 0.572

    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 1.63

    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

    No list CAPRIN1 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.30

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    Phenotypes
    • Childhood Dementia
    • Myoclonus-Ataxia
    • Sensorimotor Neuropathy
    • cerebellar atrophy
    • cortical atrophy

    No list CAPRIN1 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.19

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    Phenotypes
    • Childhood Dementia
    • Myoclonus-Ataxia
    • Sensorimotor Neuropathy
    • cerebellar atrophy
    • cortical atrophy