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  3. COL5A1
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Spontaneous coronary artery dissection

Gene: COL5A1

Green List (high evidence)
COL5A1 (collagen type V alpha 1 chain)
EnsemblGeneIds (GRCh38): ENSG00000130635
EnsemblGeneIds (GRCh37): ENSG00000130635
OMIM: 120215, Gene2Phenotype
COL5A1 is in 7 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

GeneReviews: 75-78% of classical EDS is caused by pathogenic variants in COL5A1. Haploinsufficiency is the more common disease mechanism whoeever, missense variants in the triple helical domain of the α1(V) or α2(V) chains are likely to have dominant-negative activity.
(https://www.ncbi.nlm.nih.gov/books/NBK1244/)

SCAD individuals with variants in COL5A1 have been reported
PMID: 35234813

Sources: Literature
Created: 27 Jun 2024, 11:24 p.m. | Last Modified: 7 Aug 2024, 12:13 a.m.
Panel Version: 0.32

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Ehlers-Danlos syndrome, classic type, 1 MIM#130000; Fibromuscular dysplasia, multifocal MIM#619329

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 27 Jun 2024, 11:24 p.m.
Last Modified: 7 Aug 2024, 12:13 a.m.
Panel version: 0.32

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ehlers-Danlos syndrome, classic type, 1 MIM#130000
  • Fibromuscular dysplasia, multifocal MIM#619329
OMIM
120215
Clinvar variants
Variants in COL5A1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

27 Jun 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: col5a1 has been classified as Green List (High Evidence).

27 Jun 2024, Gel status: 3

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: col5a1 has been classified as Green List (High Evidence).

27 Jun 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ain Roesley (Victorian Clinical Genetics Services)

gene: COL5A1 was added gene: COL5A1 was added to Spontaneous coronary artery dissection. Sources: Literature Mode of inheritance for gene: COL5A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: COL5A1 were set to 32938213 Phenotypes for gene: COL5A1 were set to Ehlers-Danlos syndrome, classic type, 1 MIM#130000; Fibromuscular dysplasia, multifocal MIM#619329 Review for gene: COL5A1 was set to GREEN gene: COL5A1 was marked as current diagnostic