Genomics England
GMS Panels
Panels
Genes and Entities

COL5A2

collagen type V alpha 2 chain
OMIM: 120190
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, 2, OMIM:130010
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, 130000, multisystemic smooth muscle dysfunction syndrome