Epidermolysis bullosa
Gene: PLEC

PLEC (plectin)
EnsemblGeneIds (GRCh38): ENSG00000178209
EnsemblGeneIds (GRCh37): ENSG00000178209
OMIM: 601282, Gene2Phenotype
PLEC is in 11 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on mode of inheritance: amended MOI based on expert review comment and literature reviews/OMIM
Created: 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, 613723
Created: 21 Apr 2017, 11:47 a.m.

Created: 21 Apr 2017, 11:47 a.m.

Panel version: 0.37

John McGrath (King's College London)

Green List (high evidence)

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).

Created: 19 Nov 2015, 3:43 p.m.

Panel version: 0

Details

Mode of Inheritance

BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Sources

UKGTN
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Eligibility statement prior genetic testing

Phenotypes

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

OMIM

601282

Clinvar variants

Variants in PLEC

Penetrance

Complete

Panels with this gene

History Filter Activity

13 Apr 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

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

25 Apr 2017, Gel status: 3

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation.

21 Apr 2017, Gel status: 3

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for PLEC was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

21 Apr 2017, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

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;

28 Oct 2015, Gel status: 3