Ectodermal dysplasia without a known gene mutation
Gene: PORCNEnsemblGeneIds (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
- Emory Genetics Laboratory
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Focal dermal hypoplasia 305600
- OMIM
- 300651
- Clinvar variants
- Variants in PORCN
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Intellectual disability
- Limb disorders
- Deafness and congenital structural abnormalities
- Multiple monogenic benign skin tumours
- DDG2P
- Fetal anomalies
- Ectodermal dysplasia without a known gene mutation
- Structural eye disease
- Ocular coloboma
- Mosaic skin disorders - deep sequencing
- Clefting
- Pigmentary skin disorders
- Ectodermal dysplasia
History Filter Activity
Set publications
Sarah Leigh (Genomics England Curator)Publications for PORCN were set to 17546031; 8325042; 17546030; 19309688
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 10th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for PORCN was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for PORCN were set to Focal dermal hypoplasia 305600
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)PORCN was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Added New Source
John McGrath (King's College London)PORCN was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Expert Review
Created
John McGrath (King's College London)PORCN was created by JAM22HP