Glaucoma (developmental)
Gene: COL2A1EnsemblGeneIds (GRCh38): ENSG00000139219
EnsemblGeneIds (GRCh37): ENSG00000139219
OMIM: 120140, Gene2Phenotype
COL2A1 is in 19 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Zechi-Ceide: 1 case with coloboma. Meredith: one case with lens colobomaCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Vitreoretinopathy with phalangeal epiphyseal dysplasia; Stickler syndrome, type I; Epiphyseal dysplasia, multiple, with myopia and deafness; Kniest dysplasia; SED congenita; Stickler sydrome, type I, nonsyndromic ocular; ; ; 108300; 156550; 609508
Publications
Ivone Leong (Genomics England Curator)
Promoted from red to amber based on the expert review provided.Created: 25 Apr 2019, 10:04 a.m.
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Zechi-Ceide: 1 case with coloboma. Meredith: one case with lens colobomaCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Vitreoretinopathy with phalangeal epiphyseal dysplasia; Stickler syndrome, type I, 108300; Epiphyseal dysplasia, multiple, with myopia and deafness; Kniest dysplasia, 156550; SED congenita; Stickler sydrome, type I, nonsyndromic ocular, 609508
Publications
Details
- Sources
-
- Expert Review Amber
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- OMIM
- 120140
- Clinvar variants
- Variants in COL2A1
- Penetrance
- Complete
- 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
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
Added New Source
Eik Haraldsdottir (Genomics England)COL2A1 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory