1. Genes and Genomic Entities
  2. CNKSR2

CNKSR2

connector enhancer of kinase suppressor of Ras 2
OMIM: 300724, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber CNKSR2 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY WITH EPILEPSY
Green CNKSR2 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • INTELLECTUAL DISABILITY WITH EPILEPSY
    Green CNKSR2 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.120
    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 X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Intellectual developmental disorder, X-linked, syndromic, Houge type, OMIM:301008
    • intellectual disability, X-linked, syndromic, Houge type, MONDO:0030909
    Green CNKSR2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • Intellectual developmental disorder, X-linked, syndromic, Houge type, OMIM:301008
    • intellectual disability, X-linked, syndromic, Houge type, MONDO:0030909