Ocular coloboma
Gene: PORCN

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

1 review

Alice Gardham (Genomics England)

Green List (high evidence)

Comment when marking as ready: Recognised as causing coloboma on G2P
Created: 16 Nov 2016, 1:30 p.m.

Lethal in males
Created: 16 Nov 2016, 1:29 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

Publications

17546030, 24859618

Created: 16 Nov 2016, 1:29 p.m.

Panel version: 0.25

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

Phenotypes

Focal dermal hypoplasia 305600

OMIM

300651

Clinvar variants

Variants in PORCN

Penetrance

Complete

Publications

17546030, 24859618

Panels with this gene