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Fetal anomalies

Gene: CAMK2A

Amber List (moderate evidence)

CAMK2A (calcium/calmodulin dependent protein kinase II alpha)
EnsemblGeneIds (GRCh38): ENSG00000070808
EnsemblGeneIds (GRCh37): ENSG00000070808
OMIM: 114078, Gene2Phenotype
CAMK2A is in 5 panels

1 review

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Probable for INTELLECTUAL DISABILITY
Created: 11 Dec 2018, 9:04 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • INTELLECTUAL DISABILITY
OMIM
114078
Clinvar variants
Variants in CAMK2A
Penetrance
None
Panels with this gene

History Filter Activity

8 Nov 2018, Gel status: 2

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

Rebecca Foulger (Genomics England curator)

gene: CAMK2A was added gene: CAMK2A was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: CAMK2A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CAMK2A were set to INTELLECTUAL DISABILITY