Incidentalome_PREGEN_DRAFT
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
Tony Roscioli (New South Wales Health Pathology)
A cause of a Mendelian disorder that could present in fetal lifeCreated: 4 Dec 2020, 4:16 a.m. | Last Modified: 4 Dec 2020, 4:16 a.m.
Panel Version: 0.3
Details
- Mode of Inheritance
- Unknown
- Sources
-
- NSW Health Pathology
- Expert Review Green
- OMIM
- 120180
- Clinvar variants
- Variants in COL3A1
- Penetrance
- None
- Panels with this gene
-
- Stroke
- Additional findings_Adult
- 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
- Aortopathy_Connective Tissue Disorders
- Polymicrogyria and Schizencephaly
- Cerebral vascular malformations
- Spontaneous coronary artery dissection
History Filter Activity
9 Nov 2020, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: COL3A1 was added gene: COL3A1 was added to Incidentalome_NSW. Sources: Expert Review Green,NSW Health Pathology Mode of inheritance for gene: COL3A1 was set to Unknown