PLEC

PanelMode of inheritanceDetails
4 panels
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R79
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy with epidermolysis bullosa simplex, 226670, Muscular dystrophy, limb-girdle autosomal recessive 17, 613723, Epidermolysis bullosa simplex with muscular dystrophy, 226670
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R80
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myasthenic syndrome, Plectin deficiency, myasthenic syndrome, Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS)
R-numbers: R164
Signed-off version 1.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Epidermolysis Bullosa with Muscular Dystrophy, Epidermolysis bullosa simplex, Ogna type (AD), 131950, Epidermolysis Bullosa Simplex, Ogna Type, Muscular dystrophy with epidermolysis bullosa simplex (AR), 226670, Epidermolysis bullosa simplex with pyloric atresia, Epidermolysis bullosa simplex with pyloric atresia (AR), 612138, Epidermolysis bullosa simplex including Ogna variant, Epidermolysis Bullosa Simplex With Muscular Dystrophy, Epidermolysis Bullosa Simplex With Pyloric Atresia
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy with epidermolysis bullosa simplex, 226670, Limb-girdle muscular dystrophy