Cataracts

Gene: COL18A1

Green List (high evidence)

COL18A1 (collagen type XVIII alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000182871
EnsemblGeneIds (GRCh37): ENSG00000182871
OMIM: 120328, Gene2Phenotype
COL18A1 is in 8 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

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Knobloch syndrome
  • high myopia
  • cataracts
  • vitreoretinal degeneration
  • retinal detachment
OMIM
120328
Clinvar variants
Variants in COL18A1
Penetrance
Complete
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
Panels with this gene

History Filter Activity

25 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 May 2016, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for COL18A1 were set to Knobloch syndrome; high myopia; cataracts; vitreoretinal degeneration; retinal detachment

25 May 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

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

25 May 2016, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for COL18A1 was changed to BIALLELIC, autosomal or pseudoautosomal

25 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 May 2016, Gel status: 2

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

COL18A1 was added to Cataractspanel. Sources: UKGTN