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DDG2P

Gene: CAMK2B

Amber List (moderate evidence)

CAMK2B (calcium/calmodulin dependent protein kinase II beta)
EnsemblGeneIds (GRCh38): ENSG00000058404
EnsemblGeneIds (GRCh37): ENSG00000058404
OMIM: 607707, Gene2Phenotype
CAMK2B is in 4 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

Original DDG2P rating: probable.
Created: 19 Nov 2018, 11:29 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • DD-Gene2Phenotype
  • Expert Review Amber
Phenotypes
  • INTELLECTUAL DISABILITY
OMIM
607707
Clinvar variants
Variants in CAMK2B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Rebecca Foulger (Genomics England curator)

Rebecca Foulger: Original DDG2P rating: probabl

19 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: CAMK2B was added gene: CAMK2B was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CAMK2B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAMK2B were set to 29100089; 29560374 Phenotypes for gene: CAMK2B were set to INTELLECTUAL DISABILITY