Ectodermal dysplasia

Gene: PORCN

Green List (high evidence)

PORCN (porcupine O-acyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000102312
EnsemblGeneIds (GRCh37): ENSG00000102312
OMIM: 300651, Gene2Phenotype
PORCN is in 13 panels

2 reviews

John McGrath (King's College London)

Green List (high evidence)

Phenotypes
Focal dermal hypoplasia syndrome

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least five variants reported
Created: 10 Aug 2016, 12:14 p.m.

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
Phenotypes
  • Focal dermal hypoplasia 305600
OMIM
300651
Clinvar variants
Variants in PORCN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: PORCN was added gene: PORCN was added to Ectodermal dysplasia. Sources: Expert Review Green Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PORCN were set to 17546031; 19309688; 8325042; 17546030 Phenotypes for gene: PORCN were set to Focal dermal hypoplasia 305600