Inherited bleeding disorders
Gene: COL5A1
COL5A1 (collagen type V alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000130635
EnsemblGeneIds (GRCh37): ENSG00000130635
OMIM: 120215, Gene2Phenotype
COL5A1 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000130635
EnsemblGeneIds (GRCh37): ENSG00000130635
OMIM: 120215, Gene2Phenotype
COL5A1 is in 13 panels
2 reviews
Louise Daugherty (Genomics England Curator)
Comment on list classification: Changed rating from Grey to Green based on expert list/supporting information from the NIHRBR-RD BRIDGE projectCreated: 9 Aug 2017, 1:11 p.m.
BRIDGE consortium (NIHRBR-RD)
Current level of evidence and expert review, High level of confidence as disease-causing gene. Proven in 3 unrelated pedigrees via cosegregation analysis or less than 3 or 1 large pedigree supported with functional studies (animal model). Ready for clinical reporting. Previous comments from expert reviewer, observed in the NIHRBR-RD BRIDGE cohort.Created: 9 Aug 2017, 12:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Bleeding disorder; Ehlers-Danlos syndrome, classic type
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- Phenotypes
-
- Bleeding disorder
- Ehlers-Danlos syndrome, classic type
- OMIM
- 120215
- Clinvar variants
- Variants in COL5A1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Rare genetic inflammatory skin disorders
- Thoracic aortic aneurysm or dissection (GMS)
- Paediatric disorders - additional genes
- Bleeding and platelet disorders
- Limb disorders
- Thoracic aortic aneurysm or dissection
- Inherited bleeding disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Skeletal dysplasia
- Osteogenesis imperfecta
- Cerebral vascular malformations
- Pneumothorax - familial
History Filter Activity
9 Aug 2017, Gel status: 4
Set publications
Louise Daugherty (Genomics England Curator)Publications for COL5A1 were set to 8950675; 25845371
9 Aug 2017, Gel status: 4
Gene classified by Genomics England curator
Louise Daugherty (Genomics England Curator)This gene has been classified as Green List (High Evidence).
9 Aug 2017, Gel status: 0
Added New Source
BRIDGE consortium (NIHRBR-RD)COL5A1 was added to Inherited bleeding disorderspanel. Sources: Expert Review Green,BRIDGE Study Tier 1 Gene
9 Aug 2017, Gel status: 0
Created
BRIDGE consortium (NIHRBR-RD)COL5A1 was created by BRIDGE