Early onset or syndromic epilepsy

Gene: COL4A1

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 1 features include porencephaly, hemiplegia and seizures. Gould et al,2005 - two unrelated families both dfound to have het missense variants. Both mutations changed conserved Gly residues within the conserved Gly-X-Y repeats in the triple helical domain. Yoneda et al, 2013 - identified mutations in 10/61 patients with porencephaly who didn't have mutations in COLA2 and in 5/10 additional patients with schizenphaly (Japanese). 9 mutations occures at highly conserved Gly residues as before.

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
Retinal arteries tortuosity of 180000; Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, 611773; Brain small vessel disease with or without ocular anomalies, 607595; Porencephaly, 175780; Schizencephaly 269160

Publications

• 23225343

Comment when marking as ready: Associated with relevant phenotype in OMIM and as confirmed Gen2Phen gene. At least 4 variants reported in unrelated cases in which seizures are a phenotypic feature.

Created: 13 Nov 2018, 11:39 a.m.

Green List (high evidence)

Seizures are a reported feature.

Created: 10 Aug 2018, 5:24 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Brain small vessel disease with or without ocular anomalies, MIM#607595

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)