Genomics England
GMS Panels
Panels
Genes and Entities

COL5A1

collagen type V alpha 1 chain
OMIM: 120215
PanelMode of inheritanceDetails
2 panels
Green
in Ehlers Danlos syndrome with a likely monogenic cause
R-numbers: R101
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ehlers-Danlos syndrome, classic type, 1, OMIM:130000
Green
in Thoracic aortic aneurysm or dissection (GMS)
R-numbers: R125
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ehlers-Danlos syndrome, classic type, OMIM:130000, Fibromuscular dysplasia, multifocal, OMIM:619329