Bilateral congenital or childhood onset cataracts
Gene: COL18A1

COL18A1 (collagen type XVIII alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000182871
EnsemblGeneIds (GRCh37): ENSG00000182871
OMIM: 120328, Gene2Phenotype
COL18A1 is in 7 panels

3 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Knobloch sydnrome

Publications

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

Variants in this GENE are reported as part of current diagnostic practice

Created: 25 May 2016, 8:10 a.m.

Panel version: 0.124

Kirsty McCaffrey (Manchester Centre for Genomic Medicine)

I don't know

Indicated by Manchester to be of significance for this cataract panel. Associated with Knobloch syndrome, type 1 in OMIM, which includes cataracts in its characterisation
Created: 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 characterisation
Created: 4 May 2016, 2:37 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Knobloch syndrome; high myopia; cataracts; vitreoretinal degeneration; retinal detachment

Created: 4 May 2016, 2:37 p.m.

Panel version: 0.22

Ellen McDonagh (Genomics England Curator)

I don't know

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

Created: 29 Apr 2016, 9:47 a.m.

Panel version: 0.0

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
UKGTN

Phenotypes

Knobloch syndrome, type 1, OMIM:267750

OMIM

120328

Clinvar variants

Variants in COL18A1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

12 Apr 2022, Gel status: 3

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: COL18A1 were changed from Knobloch syndrome; high myopia; cataracts; vitreoretinal degeneration; retinal detachment to Knobloch syndrome, type 1, OMIM:267750

12 Apr 2022, Gel status: 3

Set publications

Sarah Leigh (Genomics England Curator)

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

25 May 2016, Gel status: 4