Panel | Mode of inheritance | Details |
---|---|---|
2 panels | ||
Green in Amelogenesis imperfectaR-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 |