Paediatric or syndromic cardiomyopathy
Gene: CAMK2DEnsemblGeneIds (GRCh38): ENSG00000145349
EnsemblGeneIds (GRCh37): ENSG00000145349
OMIM: 607708, Gene2Phenotype
CAMK2D is in 4 panels
2 reviews
Eleanor Williams (Genomics England Curator)
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, 3:01 p.m. | Last Modified: 26 Sep 2024, 3:01 p.m.
Panel Version: 5.12
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: There is sufficient evidence available (six with DCM, four of six with age below 12 years, and functional evidence) for the promotion of this gene to green rating in the next GMS update.Created: 24 Jun 2024, 9:50 a.m. | Last Modified: 24 Jun 2024, 9:50 a.m.
Panel Version: 4.10
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.
Dilated cardiomyopathy was reported in six of eight reported cases and their age ranged from five weeks to 20 years (four of six DCM patients with age below 12 years).
This gene has been associated with relevant phenotype in Gene2Phenotype ('moderate' rating on the DD panel), but not yet in OMIM.
Sources: LiteratureCreated: 24 Jun 2024, 9:48 a.m. | Last Modified: 24 Jun 2024, 9:48 a.m.
Panel Version: 4.8
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
neurodevelopmental disorder, MONDO:0700092; dilated cardiomyopathy, MONDO:0005021
Publications
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Literature
- Phenotypes
-
- neurodevelopmental disorder, MONDO:0700092
- dilated cardiomyopathy, MONDO:0005021
- Tags
- OMIM
- 607708
- Clinvar variants
- Variants in CAMK2D
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag gene-checked tag was added to gene: CAMK2D.
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_24_promote_green was removed from gene: CAMK2D.
Added New Source, Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to CAMK2D. Source Expert Review Green was added to CAMK2D. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: camk2d has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: camk2d has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: camk2d has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Achchuthan Shanmugasundram (Genomics England Curator)gene: CAMK2D was added gene: CAMK2D was added to Paediatric or syndromic cardiomyopathy. Sources: Literature Q2_24_promote_green tags were added to gene: CAMK2D. 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; dilated cardiomyopathy, MONDO:0005021 Mode of pathogenicity for gene: CAMK2D was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: CAMK2D was set to GREEN