Pneumothorax
Gene: COL3A1
COL3A1 (collagen type III alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000168542
EnsemblGeneIds (GRCh37): ENSG00000168542
OMIM: 120180, Gene2Phenotype
COL3A1 is in 17 panels
EnsemblGeneIds (GRCh38): ENSG00000168542
EnsemblGeneIds (GRCh37): ENSG00000168542
OMIM: 120180, Gene2Phenotype
COL3A1 is in 17 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
PMID: 20301667 (Gene Reviews)
Pneumothorax is a minor criteria for vEDS. It can be the first presenting feature of vEDS.
Multiple unrelated individuals reported with pneumothorax/pneumothoraces and a rare variant in COL3A1.
The mechanism of disease is gain of function in this gene and most pathogenic missense variants are glycine altering variants in the Gly-X-Y region.
Classified as Definitive by ClinGen General Gene Curation panel on 27/02/2019 - https://search.clinicalgenome.org/CCID:004527Created: 28 Nov 2024, 1:08 a.m. | Last Modified: 28 Nov 2024, 1:08 a.m.
Panel Version: 0.11
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ehlers-Danlos syndrome, vascular type MONDO:0017314
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- Expert list
- Phenotypes
-
- Ehlers-Danlos syndrome, vascular type, OMIM:130050
- OMIM
- 120180
- Clinvar variants
- Variants in COL3A1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Stroke
- Cobblestone Malformations
- Incidentalome_PREGEN_DRAFT
- BabyScreen+ newborn screening
- Vasculitis
- Bleeding and Platelet Disorders
- Transplant Co-Morbidity Superpanel
- Genetic Epilepsy
- Pneumothorax
- Incidentalome
- Fetal anomalies
- Additional findings_Paediatric
- Additional findings_Adult
- Aortopathy_Connective Tissue Disorders
- Polymicrogyria and Schizencephaly
- Cerebral vascular malformations
- Spontaneous coronary artery dissection
History Filter Activity
27 Oct 2022, Gel status: 3
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: COL3A1 was added gene: COL3A1 was added to Pneumothorax. Sources: Expert list,Expert Review Green,NHS GMS Mode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL3A1 were set to 25940258; 9147885; 7369469; 26666608 Phenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, vascular type, OMIM:130050