Early onset or syndromic epilepsy
Gene: CAMK2G
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
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
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
Source Wessex and West Midlands GLH was added to CAMK2G.
Source NHS GMS was added to CAMK2G.
Sarah Leigh: Comment when marking as ready:
Gene: camk2g has been classified as Red List (Low Evidence).
CAMK2G was added to Genetic Epilepsy Syndromes panel. Sources: Literature
CAMK2G was created by Sarah Leigh