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Limb 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

2 reviews

Eleanor Williams (Genomics England Curator)

Comment on list classification: Changing rating to Green. More than 3 cases where syndactyly is reported in patients with point mutations resulting in stop mutations in publication PMID:17546031 alone.
Created: 6 Nov 2018, 5:26 p.m.
Genomics England clinical team notes - Not primarily limb (focal dermal hypoplasia/Goltz Gorlin)
Created: 9 Sep 2018, 5:52 p.m.
Comment on list classification: Rated Amber after review by Genomics England clinical team
Created: 9 Sep 2018, 5:52 p.m.

Ellen McDonagh (Genomics England Curator)

Comment on publications: More than 3 unrelated female cases reported.
Created: 9 Apr 2018, 4:29 p.m.
Comment on list classification: This is a confirmed DD gene for focal dermal hypoplasia (Gene2Phenotype), with HPO terms included; Foot oligodactyly, Foot polydactyly, Hand oligodactyly, postaxial hand polydactyly, split foot, split hand, toe syndactyly,
Created: 9 Apr 2018, 4:24 p.m.
Sourced from the Genetics Home Reference - "Many individuals with focal dermal hypoplasia have hand and foot abnormalities".
Created: 9 Apr 2018, 4:22 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

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
  • Victorian Clinical Genetics Services
  • Other
Phenotypes
  • focal dermal hypoplasia 305600
  • Polydactyly
OMIM
300651
Clinvar variants
Variants in PORCN
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Dec 2018, Gel status: 3

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: Sourced from the Genetics Home

6 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: porcn has been classified as Green List (High Evidence).

6 Nov 2018, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: porcn has been classified as Green List (High Evidence).

9 Sep 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: porcn has been classified as Amber List (Moderate Evidence).

13 Aug 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Victorian Clinical Genetics Services was added to PORCN. Panel: Limb disorders Phenotypes for gene PORCN were set to focal dermal hypoplasia 305600, Polydactyly

9 Apr 2018, Gel status: 3

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

9 Apr 2018, Gel status: 1

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for PORCN were set to 17546030; 17546031; 18325042; 19309688; 19863546

9 Apr 2018, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

9 Apr 2018, Gel status: 1

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for PORCN were set to focal dermal hypoplasia 305600

9 Apr 2018, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

PORCN was added to Limb disorders panel. Sources: Other

9 Apr 2018, Gel status: 1

Created

Ellen McDonagh (Genomics England Curator)

PORCN was created by Ellen McDonagh