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Clefting

Gene: PORCN

Green List (high evidence)

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

1 review

Louise Daugherty (Genomics England Curator)

Comment on publications: Three cases reported for clefting
Created: 31 May 2017, 2:18 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Focal dermal hypoplasia, 305600

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
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Expert list
Phenotypes
  • Focal dermal hypoplasia, 305600
  • GOLTZ SYNDROME
OMIM
300651
Clinvar variants
Variants in PORCN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

31 May 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

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

31 May 2017, Gel status: 2

Upload gene information

Louise Daugherty (Genomics England Curator)

PORCN was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory

31 May 2017, Gel status: 0

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for PORCN were set to Focal dermal hypoplasia, 305600;GOLTZ SYNDROME

31 May 2017, Gel status: 0

Set publications

Louise Daugherty (Genomics England Curator)

Publications for PORCN were set to 12071796;18325042; 20301712;10602117;21484999; 13948891

31 May 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

PORCN was added to Cleftingpanel. Sources: Expert list

31 May 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

PORCN was created by LouiseD