Early onset or syndromic epilepsy

Gene: COL4A2

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: Green.

Created: 6 Aug 2019, 8:38 p.m. | Last Modified: 6 Aug 2019, 8:38 p.m.

Panel Version: 1.189

Green List (high evidence)

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

• 22209246

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.

Green List (high evidence)

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

Red List (low evidence)

Red List (low evidence)

Red List (low evidence)

Red List (low evidence)