Ectodermal dysplasia

Gene: PLEC

Red List (low evidence)

PLEC (plectin)
EnsemblGeneIds (GRCh38): ENSG00000178209
EnsemblGeneIds (GRCh37): ENSG00000178209
OMIM: 601282, Gene2Phenotype
PLEC is in 12 panels

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept rating as Red. Emory report that the 3 genes known to be associated with Epodermolysis Bullosa with Pyloric Atresia (EB-PA) are ITGB4, ITGA6 and PLEC. Features of EB-PA include scarring (cicatricial) alopecia but there is no direct evidence for the role of PLEC in this condition.
Created: 13 Jul 2017, 1:58 p.m.
Mode of inheritance is taken from OMIM: M.O.I for Ogna type Epidermolysis bullosa simplex (OMIM:131950) is autosomal dominant, whereas autosomal recessive inheritance is recorded for all other listed Epidermolysis bullosa forms.
Created: 22 Nov 2016, 4:52 p.m.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • PLEC-related Epidermolysis Bullosa
  • Epidermolysis bullosa simplex, Ogna type, 131950
  • scarring alopecia
  • Epidermolysis bullosa simplex with muscular dystrophy, 226670
  • Epidermolysis bullosa simplex with pyloric atresia, 612138
OMIM
601282
Clinvar variants
Variants in PLEC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: PLEC was added gene: PLEC was added to Ectodermal dysplasia. Sources: Expert Review Red Mode of inheritance for gene: PLEC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PLEC were set to 20301336 Phenotypes for gene: PLEC were set to PLEC-related Epidermolysis Bullosa; Epidermolysis bullosa simplex, Ogna type, 131950; scarring alopecia; Epidermolysis bullosa simplex with muscular dystrophy, 226670; Epidermolysis bullosa simplex with pyloric atresia, 612138