Epidermolysis bullosa and congenital skin fragility
Gene: PLECComment on phenotypes: Previous 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 AtresiaCreated: 24 Mar 2021, 1:27 p.m. | Last Modified: 24 Mar 2021, 1:27 p.m.
Panel Version: 1.35
Comment on mode of inheritance: amended MOI based on expert review comment and literature reviews/OMIMCreated: 21 Apr 2017, 11:47 a.m.
Comment on phenotypes: updated to reflect MOI specific to disorder type, reordered list and removed non relevant disorder for this panel Muscular dystrophy, limb-girdle, type 2Q, 613723Created: 21 Apr 2017, 11:47 a.m.
Mostly Autosomal recessive. Some AD EB simplex including Ogna variant.Created: 19 Nov 2015, 3:43 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Epidermolysis bullosa with muscular dystrophy (Autosomal recessive); Epidermolysis bullosa with pyloric atresia (Autosomal recessive); Epidermolysis bullosa simplex including Ogna variant (Autosomal dominant).
Phenotypes for gene: PLEC were changed from 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 to 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
gene: PLEC was added gene: PLEC was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: PLEC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: PLEC were set to 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