Ectodermal dysplasia
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
- 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
- None
- 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, Ogna type, 131950; scarring alopecia; Epidermolysis bullosa simplex with muscular dystrophy, 226670; Epidermolysis bullosa simplex with pyloric atresia, 612138 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
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