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DDG2P

Gene: CAMK2G

Green List (high evidence)

CAMK2G (calcium/calmodulin dependent protein kinase II gamma)
EnsemblGeneIds (GRCh38): ENSG00000148660
EnsemblGeneIds (GRCh37): ENSG00000148660
OMIM: 602123, Gene2Phenotype
CAMK2G is in 3 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for CAMK2G-related intellectual developmental disorder are strong, monoallelic_autosomal and undetermined (PMIDs: 23033978, 30184290). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02985.
Created: 13 Feb 2026, 9:25 p.m. | Last Modified: 13 Feb 2026, 9:25 p.m.
Panel Version: 6.17
The DDG2P confidence category for the disease INTELLECTUAL DEVELOPMENTAL DISORDER 59, OMIM:618522 is strong. The allelic requirement and mutation consequence are monoallelic_autosomal and altered gene product structure (PMIDs: 23033978;30184290).
Created: 4 Oct 2023, 5:08 p.m. | Last Modified: 4 Oct 2023, 5:08 p.m.
Panel Version: 3.12

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
OMIM:618522.0; MONDO:0032795; INTELLECTUAL DEVELOPMENTAL DISORDER 59, OMIM:618522; CAMK2G-related intellectual developmental disorder

Publications

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • INTELLECTUAL DEVELOPMENTAL DISORDER 59, OMIM:618522
OMIM
602123
Clinvar variants
Variants in CAMK2G
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Set mode of pathogenicity

Achchuthan Shanmugasundram (Genomics England Curator)

Mode of pathogenicity for gene: CAMK2G was changed from Other to None

4 Oct 2023, Gel status: 3

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: CAMK2G was added gene: CAMK2G was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CAMK2G was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAMK2G were set to 23033978; 30184290 Phenotypes for gene: CAMK2G were set to INTELLECTUAL DEVELOPMENTAL DISORDER 59, OMIM:618522 Mode of pathogenicity for gene: CAMK2G was set to Other