SIK1

salt inducible kinase 1
OMIM: 605705, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Red SIK1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.356

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Developmental and epileptic encephalopathy 30, MIM#616341

Green SIK1 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Developmental and epileptic encephalopathy 30, MIM#616341
  • developmental and epileptic encephalopathy, MONDO#0100062

Green SIK1 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    • Australian Genomics Health Alliance Epilepsy Flagship
    Phenotypes
    • Developmental and epileptic encephalopathy 30, MIM#616341
    • developmental and epileptic encephalopathy, MONDO#0100062

    Green SIK1 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Developmental and epileptic encephalopathy 30, MIM#616341
    • developmental and epileptic encephalopathy, MONDO#0100062

    Red SIK1 in Fetal anomalies


    Version 1.255

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Red
    • Genomics England PanelApp
    Phenotypes
    • Developmental and epileptic encephalopathy 30 (MIM#616341)