Paediatric disorders - additional genes
Gene: COL5A1EnsemblGeneIds (GRCh38): ENSG00000130635
EnsemblGeneIds (GRCh37): ENSG00000130635
OMIM: 120215, Gene2Phenotype
COL5A1 is in 13 panels
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains amber. The reviewers note that EDS phenotype not felt to be within scope of R27 as there is separate targeted test for EDS.Created: 24 Feb 2025, 11:46 a.m. | Last Modified: 24 Feb 2025, 11:46 a.m.
Panel Version: 6.12
Eleanor Williams (Genomics England Curator)
Comment on list classification: Promoting to amber with a provisional recommendation to green if it is decided this phenotype is appropriate for the panel.Created: 14 Nov 2024, 3:18 p.m. | Last Modified: 14 Nov 2024, 3:18 p.m.
Panel Version: 6.3
Comment on list classification: Promoting to amber with a provisional recommendation to green if it is decided this phenotype is appropriate for the panel.Created: 14 Nov 2024, 3:18 p.m. | Last Modified: 14 Nov 2024, 3:18 p.m.
Panel Version: 6.3
Adding this gene for consideration for this panel following review of the gene by Tracy Lester (Genetics laboratory, Oxford UK) on the Limb disorders panel. The 'Paediatric disorders - additional genes' panel appears a better fit than Limb disorders if the condition is to be included in the Paediatric disorders R27 superpanel test analyses.
However, consideration of whether the EDS phenotype is the within the scope of the Paediatric disorders panel needs to be reviewed before promoting this gene to green.
Sources: Expert ReviewCreated: 14 Nov 2024, 3:08 p.m. | Last Modified: 14 Nov 2024, 3:16 p.m.
Panel Version: 6.2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Ehlers-Danlos syndrome, classic type, 1, OMIM:130000; Ehlers-Danlos syndrome, classic type, 1, MONDO:0019567
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Expert Review
- Phenotypes
-
- Ehlers-Danlos syndrome, classic type, 1, OMIM:130000
- Ehlers-Danlos syndrome, classic type, 1, MONDO:0019567
- OMIM
- 120215
- Clinvar variants
- Variants in COL5A1
- Penetrance
- None
- Publications
- Panels with this gene
-
- Pneumothorax - familial
- Rare genetic inflammatory skin disorders
- Limb disorders
- Thoracic aortic aneurysm or dissection (GMS)
- Paediatric disorders - additional genes
- Bleeding and platelet disorders
- Thoracic aortic aneurysm or dissection
- Inherited bleeding disorders
- Ehlers Danlos syndrome with a likely monogenic cause
- Skeletal dysplasia
- Fetal anomalies
- Osteogenesis imperfecta
- Cerebral vascular malformations
History Filter Activity
Removed Tag, Removed Tag, Removed Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag Q3_24_promote_green was removed from gene: COL5A1. Tag Q3_24_NHS_review was removed from gene: COL5A1. Tag Q3_24_expert_review was removed from gene: COL5A1.
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: col5a1 has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Eleanor Williams (Genomics England Curator)Gene: col5a1 has been classified as Amber List (Moderate Evidence).
Added Tag, Added Tag, Added Tag
Eleanor Williams (Genomics England Curator)Tag Q3_24_promote_green tag was added to gene: COL5A1. Tag Q3_24_NHS_review tag was added to gene: COL5A1. Tag Q3_24_expert_review tag was added to gene: COL5A1.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: COL5A1 was added gene: COL5A1 was added to Paediatric disorders - additional genes. Sources: Expert Review Mode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: COL5A1 were set to 21611149; 20847697 Phenotypes for gene: COL5A1 were set to Ehlers-Danlos syndrome, classic type, 1, OMIM:130000; Ehlers-Danlos syndrome, classic type, 1, MONDO:0019567 Review for gene: COL5A1 was set to AMBER