Bilateral congenital or childhood onset cataracts
Gene: COL2A1EnsemblGeneIds (GRCh38): ENSG00000139219
EnsemblGeneIds (GRCh37): ENSG00000139219
OMIM: 120140, Gene2Phenotype
COL2A1 is in 19 panels
2 reviews
Sarah Waller (Manchester Centre for Genomic Medicine)
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)
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
-
- Thoracic aortic aneurysm or dissection (GMS)
- Limb disorders
- DDG2P
- Intellectual disability
- Stickler syndrome
- Osteogenesis imperfecta
- Fetal hydrops
- Clefting
- Bilateral congenital or childhood onset cataracts
- Retinal disorders
- Multiple Epiphyseal Dysplasia
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Monogenic hearing loss
- Inherited bleeding disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Glaucoma (developmental)
- Skeletal dysplasia
History Filter Activity
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for COL2A1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
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
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
GEL ()COL2A1 was added to Cataractspanel. Sources: UKGTN