Bilateral congenital or childhood onset cataracts
Gene: COL18A1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Knobloch sydnrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
Indicated by Manchester to be of significance for this cataract panel. Associated with Knobloch syndrome, type 1 in OMIM, which includes cataracts in its characterisationCreated: 5 May 2016, 7:21 a.m.
Indicated by Manchester to be of significance for this cataract panel. Associated with Knobloch syndrome, type 1 in OMIM, which includes cataracts in its characterisationCreated: 4 May 2016, 2:37 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Knobloch syndrome; high myopia; cataracts; vitreoretinal degeneration; retinal detachment
Comment on list classification: Promoted to green due to expert review and evidence provided.Created: 25 May 2016, 9:46 a.m.
Not on the Manchester congenital cataracts gene panel. Associated with Knobloch syndrome 1, which includes congenital cataract (OMIM).Created: 29 Apr 2016, 9:47 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: COL18A1 were changed from Knobloch syndrome; high myopia; cataracts; vitreoretinal degeneration; retinal detachment to Knobloch syndrome, type 1, OMIM:267750
Publications for gene: COL18A1 were set to Aldahmesh et al (2011) J Genet Med 48(9):597-601; Williams et al (2008) Ophthal Genet 29:85-86; Suzuki et al (2002) Am J Hum Genet 71:1320-1329
This gene has been classified as Green List (High Evidence).
Phenotypes for COL18A1 were set to Knobloch syndrome; high myopia; cataracts; vitreoretinal degeneration; retinal detachment
Publications for COL18A1 were set to Aldahmesh et al (2011) J Genet Med 48(9):597-601; Williams et al (2008) Ophthal Genet 29:85-86; Suzuki et al (2002) Am J Hum Genet 71:1320-1329
Mode of inheritance for COL18A1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
COL18A1 was added to Cataractspanel. Sources: UKGTN