Genomics England

PLEC

plectin

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Congenital muscular dystrophy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R79 Signed-off version 4.15	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 syndrome Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R80 Signed-off version 4.5	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.79	BIALLELIC, autosomal or pseudoautosomal	Phenotypes MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2Q 613723, EPIDERMOLYSIS BULLOSA SIMPLEX WITH PYLORIC ATRESIA 612138
Green in Epidermolysis bullosa and congenital skin fragility 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 Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R82 Signed-off version 4.24	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723, Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670