CRNKL1

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CRNKL1 in Polymicrogyria and Schizencephaly


Level 2: Neurology and neurodevelopmental disorders
Version 0.204

Component of the following Super Panels:

  • Malformations of cortical development_Superpanel
  • 2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MIM# 621436

    Green CRNKL1 in Cerebellar and Pontocerebellar Hypoplasia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.98

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MIM# 621436

    Green CRNKL1 in Mendeliome


    Version 1.4215

    2 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MIM# 621436

    Green CRNKL1 in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.405

    3 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Other
    Phenotypes
    • Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, MIM# 621436

    Green CRNKL1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.638

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