| Panel | Mode of inheritance | Details |
|---|---|---|
6 panels | ||
Green in Congenital muscular dystrophyComponent of the following Super Panels:
R-numbers: R79 Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723, Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670 |
Green in Congenital myaesthenic syndromeComponent of the following Super Panels:
R-numbers: R80 Signed-off version 4.8 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670 |
Green in DDG2PComponent of the following Super Panels:
Signed-off version 5.0 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 613723, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA 612138 |
R-numbers: R164 Signed-off version 2.2 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Epidermolysis bullosa simplex, Ogna type (AD), OMIM:131950, Epidermolysis bullosa simplex with muscular dystrophy, OMIM:226670, Epidermolysis bullosa simplex with pyloric atresia (AR), OMIM:612138 |
Green in Fetal anomaliesR-numbers: R21, R412 Signed-off version 5.0 | BOTH monoallelic and biallelic, autosomal or pseudoautosomal | Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723, Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950, Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138, Epidermolysis bullosa simplex with muscular dystrophy, OMIM:226670 |
Component of the following Super Panels:
R-numbers: R82 Signed-off version 4.37 | BIALLELIC, autosomal or pseudoautosomal | Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723, Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670 |