Epidermolysis bullosa

Gene: PLEC

Green List (high evidence)

PLEC (plectin)
EnsemblGeneIds (GRCh38): ENSG00000178209
EnsemblGeneIds (GRCh37): ENSG00000178209
OMIM: 601282, Gene2Phenotype
PLEC is in 10 panels

2 reviews

Louise Daugherty (Genomics England Curator)

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

John McGrath (King's College London)

Green List (high evidence)

Mostly Autosomal recessive. Some AD EB simplex including Ogna variant.
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).

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, 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
OMIM
601282
Clinvar variants
Variants in PLEC
Penetrance
Complete
Panels with this gene

History Filter Activity

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

Added New Source

Ellen McDonagh (Genomics England Curator)

PLEC was added to Epidermolysis bullosapanel. Source: UKGTN

28 Oct 2015, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

PLEC was added to Epidermolysis bullosapanel. Source: Emory Genetics Laboratory Model of inheritance for gene PLEC was set to BIALLELIC, autosomal or pseudoautosomal

28 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PLEC was added to Epidermolysis bullosapanel. Source: Radboud University Medical Center, Nijmegen

28 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

PLEC was created by ellenmcdonagh

28 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

PLEC was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing