Structural eye disease
Gene: COL9A2EnsemblGeneIds (GRCh38): ENSG00000049089
EnsemblGeneIds (GRCh37): ENSG00000049089
OMIM: 120260, Gene2Phenotype
COL9A2 is in 15 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
STICKLER SYNDROME, TYPE V; 614284
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
STICKLER SYNDROME, TYPE V, 614284
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Red
- Phenotypes
-
- Stickler syndrome, type V, OMIM:614284
- OMIM
- 120260
- Clinvar variants
- Variants in COL9A2
- Penetrance
- None
- Panels with this gene
-
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- Intellectual disability
- Stickler syndrome
- Osteogenesis imperfecta
- Clefting
- Retinal disorders
- Multiple Epiphyseal Dysplasia
- Thoracic aortic aneurysm or dissection
- Structural eye disease
- Monogenic hearing loss
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Glaucoma (developmental)
- Skeletal dysplasia
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: COL9A2 were changed from STICKLER SYNDROME, TYPE V, 614284; Eye Disorders to Stickler syndrome, type V, OMIM:614284
Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to COL9A2. Mode of inheritance for gene COL9A2 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes STICKLER SYNDROME, TYPE V, 614284 for gene: COL9A2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: COL9A2 was added gene: COL9A2 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: COL9A2 was set to Phenotypes for gene: COL9A2 were set to Eye Disorders