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Genetic Epilepsy

Gene: CAMK2B

Green List (high evidence)

CAMK2B (calcium/calmodulin dependent protein kinase II beta)
EnsemblGeneIds (GRCh38): ENSG00000058404
EnsemblGeneIds (GRCh37): ENSG00000058404
OMIM: 607707, Gene2Phenotype
CAMK2B is in 7 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

More than 10 unrelated individuals reported, at least 5 had seizures.
Sources: Expert Review
Created: 4 Jan 2021, 7:27 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Mental retardation, autosomal dominant 54, MIM# 617799

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
Phenotypes
  • Mental retardation, autosomal dominant 54, MIM# 617799
OMIM
607707
Clinvar variants
Variants in CAMK2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: camk2b has been classified as Green List (High Evidence).

4 Jan 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: camk2b has been classified as Green List (High Evidence).

4 Jan 2021, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CAMK2B was added gene: CAMK2B was added to Genetic Epilepsy. Sources: Expert Review Mode of inheritance for gene: CAMK2B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CAMK2B were set to 29100089; 29560374; 32875707 Phenotypes for gene: CAMK2B were set to Mental retardation, autosomal dominant 54, MIM# 617799 Review for gene: CAMK2B was set to GREEN