Familial cicatricial alopecia
Gene: PLECEnsemblGeneIds (GRCh38): ENSG00000178209
EnsemblGeneIds (GRCh37): ENSG00000178209
OMIM: 601282, Gene2Phenotype
PLEC is in 11 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
-
- 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
- Publications
- Panels with this gene
-
- Ectodermal dysplasia
- Congenital muscular dystrophy
- Intellectual disability
- Congenital myaesthenic syndrome
- Familial cicatricial alopecia
- Epidermolysis bullosa and congenital skin fragility
- DDG2P
- Epidermolysis bullosa
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Fetal anomalies
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PLEC were changed from 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 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 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.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Red List (Low Evidence).
Created
Rebecca Foulger (Genomics England curator)PLEC was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)PLEC was added to Familial cicatricial alopeciapanel. Sources: Emory Genetics Laboratory