Early onset or syndromic epilepsy
Gene: COL4A2
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 Porencephaly 2 affecteds present with hemiplegia, seizures and ID although severity is variable. Yoneda et al, 2012 - Japanese family - seizures in proband and also mother, mat uncle and granduncle had a history of congenital hemiplegia. Reported on a second unrelated Japanese patient - severe phenotype - no mention of seizures . het variants identifed in both families de novo in second. Reported as non-penetrance as an unaff carrier reported in paper. Cavallin et al, 2018 - screen COL4A1 and COL4A2 in 9 patients with schizophrenia and/or polymicrogyria suspected to be caused by a vascular dysruption - 1 COL4A1 de novo varoant found and 2 COL4A2 variants found - 1 familial (missense) and 1 sporadic (splice site) - all individuals with COL4A1 and 2 mutations had epilepsy.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
Porencephaly, 614483
Publications
Comment when marking as ready: Associated with relevant phenotype in OMIM and as both DD and IF Gen2Phen gene. At least 3 variants reported in unrelated cases in which seizures are a phenotypic feature.Created: 13 Nov 2018, 11:58 a.m.
Seizures are part of the phenotype.Created: 10 Aug 2018, 5:27 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Porencephaly 2, MIM#614483
Variants in this GENE are reported as part of current diagnostic practice
Source Wessex and West Midlands GLH was added to COL4A2.
Source NHS GMS was added to COL4A2.
Zornitza Stark: Seizures are part of the pheno
Gene: col4a2 has been classified as Green List (High Evidence).
Gene: col4a2 has been classified as Green List (High Evidence).
Publications for gene: COL4A2 were set to
Phenotypes for gene: COL4A2 were changed from to Porencephaly 2 614483
Mode of inheritance for gene: COL4A2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Expert Review Amber was added to COL4A2. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to COL4A2. Panel: Genetic Epilepsy Syndromes
COL4A2 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert
COL4A2 was created by Sarah Leigh