Pigmentary skin disorders
Gene: PORCNEnsemblGeneIds (GRCh38): ENSG00000102312
EnsemblGeneIds (GRCh37): ENSG00000102312
OMIM: 300651, Gene2Phenotype
PORCN is in 13 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
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; FDH
Publications
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: PORCN; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 11:31 a.m.
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
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Angioma serpiginosa
- FOCAL DERMAL HYPOPLASIA
- Focal dermal hypoplasia
- FDH
- OMIM
- 300651
- Clinvar variants
- Variants in PORCN
- Penetrance
- None
- Publications
- Panels with this gene
-
- Deafness and congenital structural abnormalities
- Multiple monogenic benign skin tumours
- Limb disorders
- DDG2P
- Ectodermal dysplasia without a known gene mutation
- Structural eye disease
- Ocular coloboma
- Mosaic skin disorders - deep sequencing
- Intellectual disability
- Fetal anomalies
- Pigmentary skin disorders
- Ectodermal dysplasia
- Clefting
History Filter Activity
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes FOCAL DERMAL HYPOPLASIA; FDH for gene: PORCN Publications for gene PORCN were changed from to 17546030
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to PORCN.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: PORCN was added gene: PORCN was added to Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS 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) Phenotypes for gene: PORCN were set to Focal dermal hypoplasia; Angioma serpiginosa