CNKSR2

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

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green CNKSR2 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 0.198

review Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green CNKSR2 in Mendeliome


Version 1.1902

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008

Green CNKSR2 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008

    Green CNKSR2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008

    Red CNKSR2 in Fetal anomalies


    Version 1.255

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Intellectual developmental disorder, X-linked, syndromic, Houge type, MIM# 301008