COL5A2

collagen type V alpha 2 chain
OMIM: 120190
PanelMode of inheritanceDetails
2 panels
R-numbers: R101
Signed-off version 2.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ehlers-Danlos syndrome, classic type, 130000, Classical EDS, cEDS, Ehlers-Danlos syndrome vascular type I, Ehlers-Danlos syndrome type II, Ehlers-Danlos syndrome, Gravis type, Ehlers-Danlos syndrome, Mitis type
R-numbers: R125
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ehlers-Danlos syndrome, classic type, 130000, multisystemic smooth muscle dysfunction syndrome