1. Genes and Genomic Entities
  2. CRNKL1

CRNKL1

crooked neck pre-mRNA splicing factor 1
OMIM: 610952, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber CRNKL1 in Ataxia and cerebellar anomalies - narrow panel


Level 2: Neurology
Version 8.63
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, OMIM:621436
    • complex neurodevelopmental disorder, MONDO:0100038
    Tags
    • dd_review
    • Q3_25_promote_green
    Amber CRNKL1 in Severe microcephaly


    Level 2: Neurology
    Version 8.31
    Latest signed off version: v8.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, OMIM:621436
    • complex neurodevelopmental disorder, MONDO:0100038
    Tags
    • dd_review
    • Q3_25_promote_green
    Amber CRNKL1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.125
    Latest signed off version: v8.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, OMIM:621436
    • complex neurodevelopmental disorder, MONDO:0100038
    Tags
    • dd_review
    • Q3_25_promote_green
    Amber CRNKL1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.285
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Microcephaly, progressive, with simplified gyral pattern and cerebellar hypoplasia, OMIM:621436
    • complex neurodevelopmental disorder, MONDO:0100038
    Tags
    • dd_review
    • Q3_25_promote_green