LAMB3

laminin subunit beta 3
OMIM: 150310
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, 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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epidermolysis bullosa, junctional, Herlitz type, OMIM:226700, Epidermolysis bullosa, junctional, non-Herlitz type, OMIM:226650