LAMA3

laminin subunit alpha 3
OMIM: 600805
PanelMode of inheritanceDetails
2 panels
R-numbers: R340
Signed-off version 3.0
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Phenotypes
Amelogenesis imperfecta, hypoplastic type, Epidermolysis bullosa, generalized atrophic benign 226650, Epidermolysis bullosa, junctional, Herlitz type 226700, Laryngoonychocutaneous syndrome 245660
R-numbers: R164
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700, Epidermolysis bullosa, generalized atrophic benign, OMIM:226650, Laryngoonychocutaneous syndrome, OMIM:245660