CAMK2A

calcium/calmodulin dependent protein kinase II alpha
OMIM: 114078, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber CAMK2A in Fetal anomalies


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

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY
Green CAMK2A in DDG2P


Version 6.424
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
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • INTELLECTUAL DISABILITY
    Green CAMK2A 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, imprinted status unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Mental retardation, autosomal dominant 53, OMIM:617798
    • ?Mental retardation, autosomal recessive 63, OMIM:618095
    Tags
    • watchlist_moi