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Mendeliome

Gene: CAMK2G

Amber List (moderate 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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Two unrelated individuals reported with de novo (p.Arg292Pro) variant. Functional data suggests GoF.
Sources: Expert Review
Created: 24 Jan 2022, 9:37 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 59, MIM# 618522

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review
Phenotypes
  • Mental retardation, autosomal dominant 59, MIM# 618522
OMIM
602123
Clinvar variants
Variants in CAMK2G
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: camk2g has been classified as Amber List (Moderate Evidence).

24 Jan 2022, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: camk2g has been classified as Amber List (Moderate Evidence).

24 Jan 2022, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CAMK2G was added gene: CAMK2G was added to Mendeliome. Sources: Expert Review Mode of inheritance for gene: CAMK2G was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CAMK2G were set to 30184290; 23033978 Phenotypes for gene: CAMK2G were set to Mental retardation, autosomal dominant 59, MIM# 618522 Review for gene: CAMK2G was set to AMBER