Genomics England
GMS Panels
Panels
Genes and Entities

LAMA3

laminin subunit alpha 3
OMIM: 600805
PanelMode of inheritanceDetails
2 panels
Green
in Amelogenesis imperfecta
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
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, 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