Familial cicatricial alopecia

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
  • Emory Genetics Laboratory
Phenotypes
  • PLEC-related Epidermolysis Bullosa
  • Epidermolysis bullosa simplex with pyloric atresia, 612138
  • Epidermolysis bullosa simplex with muscular dystrophy, 226670
  • Epidermolysis bullosa simplex, Ogna type, 131950
  • scarring alopecia
OMIM
601282
Clinvar variants
Variants in PLEC
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

20 Jul 2017, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

20 July 2017: Reviews from Prof. John McGrath were assessed, and panel was revised largely to reflect his expert review. Demoted FOXN1 and GJA1 to grey because the congenital alopecia phenotype is too broad for this cicatricial (scarring) alopecia panel. For most of the red genes, there is only very minor (often indirect) evidence to support a link to cicatricial alopecia, but they remain on the panel, for now, for completeness.

13 Jul 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

22 Nov 2016, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

PLEC was created by rfoulger

22 Nov 2016, Gel status: 1

Added New Source

Rebecca Foulger (Genomics England curator)

PLEC was added to Familial cicatricial alopeciapanel. Sources: Emory Genetics Laboratory