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Genetic epilepsy syndromes

Gene: CAMK2G

Red List (low evidence)

CAMK2G (calcium/calmodulin dependent protein kinase II gamma)
EnsemblGeneIds (GRCh38): ENSG00000148660
EnsemblGeneIds (GRCh37): ENSG00000148660
OMIM: 602123, Gene2Phenotype
CAMK2G is in 2 panels

3 reviews

Rebecca Foulger (Genomics England curator)

I don't know

Review and rating collated by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust, 2019_02_06) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group, for Clinical Indication R59 'Early onset or syndromic epilepsy'. Review contributors: John Taylor and Helen Lord. Suggested gene rating: Amber.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189

Tracy Lester (Genetics laboratory, Oxford UK)

I don't know

Not associated with an epilepsy phenotype on OMIM. Ostrander et al, 2018 - 14 EIEE subjects - Subject 10 had a de novo missense variant in CAMK2G - classed as likely pathogenic. It has also been predicted to be a drug target for refractory epilepsies - Chu et al, 2017.
Created: 6 Aug 2019, 8:31 p.m. | Last Modified: 6 Aug 2019, 8:31 p.m.
Panel Version: 1.188

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
intellectual disability

Publications

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Comment when marking as ready: Not associated with epilepsy phenotype in OMIM or in Gen2Phen. Single variant reported in case with early infantile epileptic encephalopathy (PMID 30109124), also identified as a potential drug target for epilepsy treatment (PMID 28388656).
Created: 4 Sep 2018, 10:07 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Early infantile epileptic encephalopathy

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Wessex and West Midlands GLH
  • NHS GMS
  • Expert Review Red
  • Literature
Phenotypes
  • Early infantile epileptic encephalopathy
OMIM
602123
Clinvar variants
Variants in CAMK2G
Penetrance
None
Publications
Panels with this gene

History Filter Activity

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to CAMK2G.

6 Aug 2019, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to CAMK2G.

11 Dec 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Comment when marking as ready:

4 Sep 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: camk2g has been classified as Red List (Low Evidence).

4 Sep 2018, Gel status: 1

Added New Source

Sarah Leigh (Genomics England Curator)

CAMK2G was added to Genetic Epilepsy Syndromes panel. Sources: Literature

4 Sep 2018, Gel status: 1

Created

Sarah Leigh (Genomics England Curator)

CAMK2G was created by Sarah Leigh