LAMA3

laminin subunit alpha 3
OMIM: 600805
PanelMode of inheritanceDetails
2 panels
R-numbers: R340
Signed-off version 2.2
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 1.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epidermolysis bullosa, junctional, Herlitz type, 226700, Shabbir syndrome, Epidermolysis bullosa, junctional, non-Herlitz type, Laryngo-onhycho-cutaneous syndrome associated with LAMA3A isoform, Severe generalised junctional Epidermolysis bullosa (occasionally intermediate), Junctional Epidermolysis Bullosa, Epidermolysis bullosa, generalized atrophic benign, 226650, Laryngoonychocutaneous syndrome, 245660