SIK1

salt inducible kinase 1
OMIM: 605705, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red SIK1 in Familial Meniere Disease

Level 3: Other hearing and ear disorders
Level 2: Hearing and ear disorders
Version 1.4

review Not set
Sources
  • Literature
Red SIK1 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.178
Latest signed off version: v6.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • PAGE DD-Gene2Phenotype
Phenotypes
  • NEONATAL EPILEPSY SPECTRUM
Green SIK1 in DDG2P


Version 6.441
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NEONATAL EPILEPSY SPECTRUM
    Green SIK1 in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 8.162
    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
    • Wessex and West Midlands GLH
    • NHS GMS
    • Victorian Clinical Genetics Services
    • Expert Review
    • Expert Review Green
    Phenotypes
    • NEONATAL EPILEPSY SPECTRUM
    • Epileptic encephalopathy, early infantile, 30
    Green SIK1 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.336
    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 Green
    Phenotypes
    • NEONATAL EPILEPSY SPECTRUM