CRNKL1:Ensemblv90

crooked neck pre-mRNA splicing factor 1
OMIM: 610952, ClinGen, DECIPHER

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green CRNKL1 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.202

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Complex neurodevelopmental disorder, CRNKL1-related - MONDO:0100038

    Green CRNKL1 in Cerebellar and Pontocerebellar Hypoplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.92

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • complex neurodevelopmental disorder MONDO:0100038

    Green CRNKL1 in Mendeliome


    Version 1.3802

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • complex neurodevelopmental disorder MONDO:0100038

    Green CRNKL1 in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.376

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • complex neurodevelopmental disorder MONDO:0100038 CRNKL1-related

    Green CRNKL1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.508

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • complex neurodevelopmental disorder MONDO:0100038

    Green CRNKL1 in Polymicrogyria and Schizencephaly


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Literature
    • Expert Review Green
    Phenotypes
    • Complex neurodevelopmental disorder, CRNKL1-related - MONDO:0100038

    Green CRNKL1 in Cerebellar and Pontocerebellar Hypoplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Other
    • Expert Review Green
    Phenotypes
    • complex neurodevelopmental disorder MONDO:0100038