Ocular coloboma

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

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

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
Panels with this gene

History Filter Activity

6 Feb 2017, Gel status: 4

panel promoted to version 1

Alice Gardham (Genomics England)

Promoted to version 1 on 6th February 2016 by Alice Gardham

16 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

16 Nov 2016, Gel status: 4

Gene classified by Genomics England curator

Alice Gardham (Genomics England)

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

16 Nov 2016, Gel status: 0

Created

Alice Gardham (Genomics England)

PORCN was created by agardham

16 Nov 2016, Gel status: 2

Added New Source

Alice Gardham (Genomics England)

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