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)
Focal dermal hypoplasia, 305600
Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017
This gene has been classified as Green List (High Evidence).
PORCN was added to Cleftingpanel. Sources: Radboud University Medical Center, Nijmegen,Emory Genetics Laboratory
Phenotypes for PORCN were set to Focal dermal hypoplasia, 305600;GOLTZ SYNDROME
Publications for PORCN were set to 12071796;18325042; 20301712;10602117;21484999; 13948891
PORCN was added to Cleftingpanel. Sources: Expert list
PORCN was created by LouiseD