Epidermolysis bullosa
Gene: PLECComment 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 simplex, Ogna type (AD), 131950; Epidermolysis bullosa simplex including Ogna variant; Epidermolysis Bullosa Simplex, Ogna Type; Epidermolysis bullosa simplex with pyloric atresia (AR), 612138; Epidermolysis bullosa simplex with pyloric atresia; Epidermolysis Bullosa Simplex With Pyloric Atresia; Muscular dystrophy with epidermolysis bullosa simplex (AR), 226670; Epidermolysis Bullosa with Muscular Dystrophy; Epidermolysis Bullosa Simplex With Muscular Dystrophy to Epidermolysis bullosa simplex 5D, generalized intermediate, autosomal recessive , OMIM:616487; Epidermolysis bullosa simplex 5A, Ogna type, OMIM:131950; Epidermolysis bullosa simplex 5B, with muscular dystrophy, OMIM:226670; Epidermolysis bullosa simplex 5C, with pyloric atresia, OMIM:612138
Panel reviews were assessed, and panel was revised according to reviews and further curation.
Mode of inheritance for PLEC was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for PLEC were set to Epidermolysis bullosa simplex, Ogna type (AD), 131950; Epidermolysis bullosa simplex including Ogna variant; Epidermolysis Bullosa Simplex, Ogna Type; Epidermolysis bullosa simplex with pyloric atresia (AR), 612138; Epidermolysis bullosa simplex with pyloric atresia; Epidermolysis Bullosa Simplex With Pyloric Atresia; Muscular dystrophy with epidermolysis bullosa simplex (AR), 226670; Epidermolysis Bullosa with Muscular Dystrophy; Epidermolysis Bullosa Simplex With Muscular Dystrophy;
PLEC was added to Epidermolysis bullosapanel. Source: UKGTN
PLEC was added to Epidermolysis bullosapanel. Source: Emory Genetics Laboratory Model of inheritance for gene PLEC was set to BIALLELIC, autosomal or pseudoautosomal
PLEC was added to Epidermolysis bullosapanel. Source: Radboud University Medical Center, Nijmegen
PLEC was created by ellenmcdonagh
PLEC was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing