Genes in panel

Early onset or syndromic epilepsy

Gene: CAMK2D

Amber List (moderate evidence)

CAMK2D (calcium/calmodulin dependent protein kinase II delta)
EnsemblGeneIds (GRCh38): ENSG00000145349
EnsemblGeneIds (GRCh37): ENSG00000145349
OMIM: 607708, Gene2Phenotype
CAMK2D is in 4 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

PMID:38272033 reported eight unrelated individuals with monoallelic CAMK2D variants and presenting with a neurodevelopmental disorder. Clinical phenotypes include intellectual disability (ID), delayed speech, behavioral problems and dilated cardiomyopathy.

The majority of the variants tested lead to a gain of function (GoF), which appears to cause both neurological problems and dilated cardiomyopathy. In contrast, loss-of-function (LoF) variants appear to induce only neurological symptoms.

Epilepsy was reported as one of the clinical manifestations in 3 out of eight reported cases.

This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM.
Sources: Literature
Created: 24 Jun 2024, 9:35 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092; epilepsy, MONDO:0005027

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • neurodevelopmental disorder, MONDO:0700092
  • epilepsy, MONDO:0005027
Tags
gene-checked
OMIM
607708
Clinvar variants
Variants in CAMK2D
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Oct 2024, Gel status: 2

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag gene-checked tag was added to gene: CAMK2D.

24 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: camk2d has been classified as Amber List (Moderate Evidence).

24 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: camk2d has been classified as Amber List (Moderate Evidence).

24 Jun 2024, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: camk2d has been classified as Amber List (Moderate Evidence).

24 Jun 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CAMK2D was added gene: CAMK2D was added to Early onset or syndromic epilepsy. Sources: Literature Mode of inheritance for gene: CAMK2D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CAMK2D were set to 38272033 Phenotypes for gene: CAMK2D were set to neurodevelopmental disorder, MONDO:0700092; epilepsy, MONDO:0005027 Review for gene: CAMK2D was set to AMBER