CAMSAP1

calmodulin regulated spectrin associated protein 1
OMIM: 613774, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Green CAMSAP1 in Lissencephaly and Band Heterotopia


Level 2: Neurology and neurodevelopmental disorders
Version 1.21

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316

    Green CAMSAP1 in Mendeliome


    Version 1.2374

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316

    Green CAMSAP1 in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.301

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316

    Green CAMSAP1 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.119

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316

    Green CAMSAP1 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316

    Green CAMSAP1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Cortical dysplasia, complex, with other brain malformations 12, MIM# 620316