Cataracts

Gene: COL2A1

Green List (high evidence)

COL2A1 (collagen type II alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000139219
EnsemblGeneIds (GRCh37): ENSG00000139219
OMIM: 120140, Gene2Phenotype
COL2A1 is in 19 panels

2 reviews

Sarah Waller (Manchester Centre for Genomic Medicine)

Green List (high evidence)

Phenotypes
Stickler syndrome

Publications

  • Richards et al (2006) Hm Mutat 27:694-704
  • McAlinden et al (2008) Hum Mutat 29:83-90

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

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Comment on mode of inheritance: Source: G2P.
Created: 25 May 2016, 10:25 a.m.
Comment on list classification: Promoted to green due to expert review and evidence provided.
Created: 25 May 2016, 9:53 a.m.
Is on the Manchester congenital cataracts gene panel.
Created: 29 Apr 2016, 10:25 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
Phenotypes
  • Confirmed DD gene for Stickler syndrome type I non-syndromic ocular
  • Stickler syndrome
OMIM
120140
Clinvar variants
Variants in COL2A1
Penetrance
Complete
Publications
  • Richards et al (2006) Hm Mutat 27:694-704
  • McAlinden et al (2008) Hum Mutat 29:83-90
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 Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for COL2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

25 May 2016, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for COL2A1 were set to Richards et al (2006) Hm Mutat 27:694-704; McAlinden et al (2008) Hum Mutat 29:83-90

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: 2

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for COL2A1 were set to Confirmed DD gene for Stickler syndrome type I non-syndromic ocular; Stickler syndrome

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 ()

COL2A1 was added to Cataractspanel. Sources: UKGTN