Genetic epilepsy syndromesGene: DEPDC5
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: Green.
Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.
Panel Version: 1.189
AD familial focal epliepsy with variable foci 1 (FFEVF) - characterised by focal seizures arising from different cortical regions in diff family members - this disorder shows incomplete penetrance. Xiong et al, 1999 - 2 lge French Canadian families - segregating a familial partial epilepsy synd with variable foci. Callenbach et al, 2003 - 4 generation Dutch family - 12 individuals had epilepsy consistent with FFEVF. Berkovic et al, 2004 - 5 gen Spanish family - 14 individuals partial seizures - Dibbens et al, 2013 reported het mutations in the cases described by the first 3 papers. Ishida et al, 2013 - 6 unrelated families with AD focal epilepsy - 6 diff het variants - 5 result in truncated protein. Picard et al, 2014 - 9 patients from 4 unrelated families with FFEVF - 4 diff het mutations identified. Two unaff members also carriers indicating incomplete penetrance. No functional work done. Schaffer et al, 2014 - 6 aff members of an Australian family - het truncating mutation.
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
Epilepsy, familial focal, with variable foci 1,604364
Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 12 variants reported
Created: 9 Apr 2018, 9:41 a.m.
Source Wessex and West Midlands GLH was added to DEPDC5.
Source NHS GMS was added to DEPDC5.
Sarah Leigh: Associated with relevant pheno
NIHRBR-RD Consortium SPEED_v3.0_20170404 was added to DEPDC5. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to DEPDC5. Panel: Genetic Epilepsy Syndromes
Mode of inheritance for DEPDC5 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for DEPDC5 were set to Epilepsy, familial focal, with variable foci 1 604364
This gene has been classified as Green List (High Evidence).
Publications for DEPDC5 were set to 14510823; 15329069; 10825362; 10577924; 9851433; 23542701
DEPDC5 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert
DEPDC5 was created by Sarah Leigh