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BabyScreen+ newborn screening

Gene: PORCN

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Well established gene-disease association.

Congenital onset.

No specific treatment.
Created: 23 Dec 2022, 2:39 a.m. | Last Modified: 23 Dec 2022, 2:39 a.m.
Panel Version: 0.1607

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, MIM#305600

Created: 23 Dec 2022, 2:39 a.m.
Last Modified: 23 Dec 2022, 2:39 a.m.
Panel version: 0.1607

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 Red
  • BabySeq Category A gene
Phenotypes
  • Focal dermal hypoplasia, MIM#305600
OMIM
300651
Clinvar variants
Variants in PORCN
Penetrance
None
Panels with this gene

History Filter Activity

23 Dec 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: porcn has been classified as Red List (Low Evidence).

23 Dec 2022, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: PORCN were changed from Focal dermal hypoplasia to Focal dermal hypoplasia, MIM#305600

23 Dec 2022, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: PORCN was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

23 Dec 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: porcn has been classified as Red List (Low Evidence).

18 Sep 2022, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: PORCN was added gene: PORCN was added to gNBS. Sources: BabySeq Category A gene,Expert Review Green Mode of inheritance for gene: PORCN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PORCN were set to Focal dermal hypoplasia