LAMB3

laminin subunit beta 3
OMIM: 150310
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, type IA, 104530, Amelogenesis Imperfecta, Type IA, 104530, Epidermolysis bullosa, junctional, Herlitz type, 26700, Epidermolysis bullosa, junctional, non-Herlitz type, 226650
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)