Genomics England
GMS Panels
Panels
Genes and Entities

PLEC

plectin
OMIM: 601282
PanelMode of inheritanceDetails
4 panels
Green
in Congenital muscular dystrophy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R79
Signed-off version 3.1
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
Green
in Congenital myaesthenic syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R80
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Congenital myasthenic syndrome, Plectin deficiency, Congenital myasthenic syndrome associatedwith epidermolysis bullosa (EBS)
Green
in Epidermolysis bullosa and congenital skin fragility
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
Green
in Limb girdle muscular dystrophy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy with epidermolysis bullosa simplex, 226670, Limb-girdle muscular dystrophy