Limb 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
Eleanor Williams (Genomics England Curator)
Have added this gene to the 'Paediatric disorders - additional genes' panel instead as it is a better fit than Limb disorders for the phenotype.Created: 14 Nov 2024, 3:19 p.m. | Last Modified: 14 Nov 2024, 3:19 p.m.
Panel Version: 6.3
Tracy Lester (Genetics laboratory, Oxford UK)
I am not sure if the right panel to add this gene but it should be included in R27 due to severe EDS presenting in childhood - this also applies to COL5A2. We have reported a possible fetal case of EDS with multiple joint flexions on scan and a nonsense variant in COL5A1
Sources: NHS GMSCreated: 23 Oct 2024, 4:52 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
EDS
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Phenotypes
-
- EDS
- Tags
- 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
14 Nov 2024, Gel status: 0
Added Tag
Eleanor Williams (Genomics England Curator)Tag curated_removed tag was added to gene: COL5A1.
23 Oct 2024, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Tracy Lester (Genetics laboratory, Oxford UK)gene: COL5A1 was added gene: COL5A1 was added to Limb disorders. Sources: NHS GMS Mode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL5A1 were set to 21611149; 20847697 Phenotypes for gene: COL5A1 were set to EDS Penetrance for gene: COL5A1 were set to Complete Review for gene: COL5A1 was set to GREEN