Intellectual disability
Gene: CAMK2D

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)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 26 Sep 2024, 2:57 p.m. | Last Modified: 26 Sep 2024, 2:57 p.m.

Panel Version: 7.41

Comment on list classification: There is sufficient evidence available (seven unrelated cases) for the promotion of this gene to green rating in the next GMS update.
Created: 24 Jun 2024, 9:31 a.m. | Last Modified: 24 Jun 2024, 9:31 a.m.

Panel Version: 6.36

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.

ID was reported in all seven individuals tested for ID, where ID was mild in 2, moderate to severe in 1, severe in 3 and profound in 1 patient.

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, 9:28 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
neurodevelopmental disorder, MONDO:0700092; intellectual disability, MONDO:0001071

Publications

38272033

Created: 24 Jun 2024, 9:28 a.m.

Panel version: 7.41

Details

Mode of Inheritance

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

OMIM

607708

Clinvar variants

Variants in CAMK2D

Penetrance

None

Publications

38272033

Panels with this gene

History Filter Activity

2 Oct 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

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

26 Sep 2024, Gel status: 3