Ectodermal dysplasia without a known gene mutation

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
  • 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

History Filter Activity

15 Aug 2016, Gel status: 4

Set publications

Sarah Leigh (Genomics England Curator)

Publications for PORCN were set to 17546031; 8325042; 17546030; 19309688

10 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 10th August 2016

10 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Aug 2016, Gel status: 4

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)

10 Aug 2016, Gel status: 4

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for PORCN were set to Focal dermal hypoplasia 305600

10 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

10 Aug 2016, Gel status: 0

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

19 Nov 2015, Gel status: 0

Added New Source

John McGrath (King's College London)

PORCN was added to Ectodermal dysplasia without a known gene mutationpanel. Sources: Expert Review

19 Nov 2015, Gel status: 0

Created

John McGrath (King's College London)

PORCN was created by JAM22HP