Genomics England
GMS Panels
Panels
Genes and Entities

PLEC

plectin
OMIM: 601282
PanelMode of inheritanceDetails
5 panels
Green
in Congenital muscular dystrophy and congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R432
Signed-off version 1.0
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 syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R80
Signed-off version 4.6
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 4.3
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 4.33
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 17, OMIM:613723, Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670