Genomics England
GMS Panels
Panels
Genes and Entities

LAMC2

laminin subunit gamma 2
OMIM: 150292
PanelMode of inheritanceDetails
1 panel
Green
in Epidermolysis bullosa and congenital skin fragility
R-numbers: R164
Signed-off version 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epidermolysis bullosa, junctional, Herlitz type, 226700, Epidermolysis bullosa, junctional, non-Herlitz type, 226650, Junctional Epidermolysis Bullosa, Severe generalised junctional Epidermolysis bullosa (occasionally intermediate)