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  3. PORCN
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Clefting disorders

Gene: PORCN

Green List (high evidence)
PORCN (porcupine O-acyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000102312
EnsemblGeneIds (GRCh37): ENSG00000102312
OMIM: 300651, Gene2Phenotype
PORCN is in 12 panels

0 reviews

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
  • Expert list
  • Emory Genetics Laboratory
Phenotypes
  • GOLTZ SYNDROME
  • Focal dermal hypoplasia, 305600
OMIM
300651
Clinvar variants
Variants in PORCN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Sep 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PORCN was added gene: PORCN was added to Clefting_GEL. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,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 12071796; 21484999; 20301712; 10602117; 13948891; 18325042 Phenotypes for gene: PORCN were set to GOLTZ SYNDROME; Focal dermal hypoplasia, 305600