Bilateral congenital or childhood onset cataracts
Gene: COL4A1
Phenotypes
Brain small vessel disease with or without ocular anomalies
Publications
Variants in this GENE are reported as part of current diagnostic practice
Comment on mode of inheritance: Confirmed in publications.Created: 31 May 2016, 8:37 a.m.
Comment on list classification: Promoted to green due to expert review and evidence provided.Created: 31 May 2016, 8:36 a.m.
Comment on mode of inheritance: Source: G2P and PMID: 24628545.Created: 25 May 2016, 10:38 a.m.
Is on the Manchester congenital cataracts gene panel for the association Brain small vessel disease with Axenfeld-Rieger anomaly. Is a "Both DD and IF" gene in G2P for porencephaly 1.
Created: 29 Apr 2016, 10:33 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
Phenotypes for COL4A1 were set to Brain small vessel disease with or without ocular anomalies; complex ocular phenotypes involving microphthalmia; Congenital cataracts
Mode of inheritance for COL4A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
Publications for COL4A1 were set to Shah et al (2012) Dev Med Child Neurol 54:569-574; Deml et al (2014) Clin Genet 86:475-481
Phenotypes for COL4A1 were set to Brain small vessel disease with or without ocular anomalies
Mode of inheritance for COL4A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Amber List (Moderate Evidence).
COL4A1 was added to Cataractspanel. Sources: UKGTN