CAMK2D

calcium/calmodulin dependent protein kinase II delta
OMIM: 607708, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green CAMK2D in DDG2P


Version 8.1
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • CAMK2D-related neurodevelopmental disorder and dilated cardiomyopathy
    Tags
    • de novo
    • gene-checked
    Amber CAMK2D in Early onset or syndromic epilepsy


    Level 2: Neurology
    Version 9.72
    Latest signed off version: v9.56 (12 Aug 2026)

    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
    • Expert Review Amber
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • epilepsy, MONDO:0005027
    Tags
    • gene-checked
    Green CAMK2D in Intellectual disability


    Level 2: Developmental disorders
    Version 11.17
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • intellectual disability, MONDO:0001071
    Tags
    • gene-checked
    Green CAMK2D in Paediatric or syndromic cardiomyopathy


    Level 2: Cardiology
    Version 8.5
    Latest signed off version: v8.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • neurodevelopmental disorder, MONDO:0700092
    • dilated cardiomyopathy, MONDO:0005021
    Tags
    • gene-checked