Early onset or syndromic epilepsy
Gene: COL4A1
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 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
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.
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
Source Wessex and West Midlands GLH was added to COL4A1.
Source NHS GMS was added to COL4A1.
Zornitza Stark: Seizures are a reported featur
Gene: col4a1 has been classified as Green List (High Evidence).
Gene: col4a1 has been classified as Green List (High Evidence).
Publications for gene: COL4A1 were set to
Phenotypes for gene: COL4A1 were changed from to Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773; Brain small vessel disease with or without ocular anomalies 607595; Porencephaly 1 175780; Schizencephaly 269160
Mode of inheritance for gene: COL4A1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Expert Review Amber was added to COL4A1. Panel: Genetic Epilepsy Syndromes
Victorian Clinical Genetics Services was added to COL4A1. Panel: Genetic Epilepsy Syndromes
COL4A1 was added to Genetic Epilepsy Syndromes panel. Sources: Expert Review Red,Expert
COL4A1 was created by Sarah Leigh