Osteogenesis imperfecta
Gene: COL9A3
COL9A3 (collagen type IX alpha 3 chain)
EnsemblGeneIds (GRCh38): ENSG00000092758
EnsemblGeneIds (GRCh37): ENSG00000092758
OMIM: 120270, Gene2Phenotype
COL9A3 is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000092758
EnsemblGeneIds (GRCh37): ENSG00000092758
OMIM: 120270, Gene2Phenotype
COL9A3 is in 15 panels
2 reviews
Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)
Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)
Remove from panelCreated: 27 Nov 2015, 3:04 p.m.
Details
- Sources
-
- Expert Review Removed
- Emory Genetics Laboratory
- Phenotypes
-
- Disproportionate Short Stature
- Tags
- OMIM
- 120270
- Clinvar variants
- Variants in COL9A3
- Penetrance
- Complete
- Panels with this gene
-
- Stickler syndrome
- Skeletal dysplasia
- Congenital myopathy
- Thoracic aortic aneurysm or dissection (GMS)
- Intellectual disability
- DDG2P
- Monogenic hearing loss
- Ehlers Danlos syndrome with a likely monogenic cause
- Retinal disorders
- Multiple Epiphyseal Dysplasia
- Osteogenesis imperfecta
- Thoracic aortic aneurysm or dissection
- Clefting
- Arthrogryposis
- Fetal anomalies
History Filter Activity
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: COL9A3.
12 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
12 May 2016, Gel status: 0
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been removed from the panel.
20 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)COL9A3 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory