Ectodermal dysplasia
Gene: PORCN
PORCN (porcupine O-acyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000102312
EnsemblGeneIds (GRCh37): ENSG00000102312
OMIM: 300651, Gene2Phenotype
PORCN is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000102312
EnsemblGeneIds (GRCh37): ENSG00000102312
OMIM: 300651, Gene2Phenotype
PORCN is in 13 panels
2 reviews
John McGrath (King's College London)
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 reportedCreated: 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
-
- Deafness and congenital structural abnormalities
- Multiple monogenic benign skin tumours
- Limb disorders
- DDG2P
- Ectodermal dysplasia without a known gene mutation
- Structural eye disease
- Ocular coloboma
- Mosaic skin disorders - deep sequencing
- Intellectual disability
- Fetal anomalies
- Pigmentary skin disorders
- Ectodermal dysplasia
- Clefting
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