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Autism

Gene: CAMK2A

Red List (low evidence)

CAMK2A (calcium/calmodulin dependent protein kinase II alpha)
EnsemblGeneIds (GRCh38): ENSG00000070808
EnsemblGeneIds (GRCh37): ENSG00000070808
OMIM: 114078, Gene2Phenotype
CAMK2A is in 4 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Each gene in the SFARI Human Gene module has a dedicated entry summary page, see here for more info on this gene: https://gene.sfari.org/database/human-gene/CAMK2A Gene indicated by SFARI as predisposition to autism in the context of a syndromic disorder.
Created: 1 Apr 2019, 11:26 a.m.

Details

Sources
  • Expert Review Red
  • SFARI
OMIM
114078
Clinvar variants
Variants in CAMK2A
Penetrance
None
Panels with this gene

History Filter Activity

29 Mar 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to CAMK2A.

29 Mar 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: CAMK2A was added gene: CAMK2A was added to Autism. Sources: SFARI Mode of inheritance for gene: CAMK2A was set to