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Structural eye disease

Gene: PORCN

Green List (high evidence)

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

2 reviews

Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)

Green List (high evidence)

Gisseman et al. 2016 published 14 unrelated cases with Focal Dermal Hypoplasia demonstrating an AMC phenotype
Created: 19 Jun 2019, 3:32 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

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Gisseman et al. 2016 published 14 unrelated cases with Focal Dermal Hypoplasia demonstrating an AMC phenotype
Created: 17 Apr 2019, 3:30 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

Variants in this GENE are reported as part of current diagnostic practice

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
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Focal dermal hypoplasia 305600
OMIM
300651
Clinvar variants
Variants in PORCN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Apr 2019, Gel status: 4

Added New Source, Set Phenotypes, Set publications

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to PORCN. Added phenotypes Focal dermal hypoplasia 305600 for gene: PORCN Publications for gene PORCN were changed from 17546030, 24859618 to 24859618; 17546030

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: PORCN was added gene: PORCN was added to Structural eye disease. Sources: 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 17546030, 24859618 Phenotypes for gene: PORCN were set to Focal dermal hypoplasia 305600