Multiple monogenic benign skin tumours
Gene: PORCN
PORCN (porcupine O-acyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000102312
EnsemblGeneIds (GRCh37): ENSG00000102312
OMIM: 300651, Gene2Phenotype
PORCN is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000102312
EnsemblGeneIds (GRCh37): ENSG00000102312
OMIM: 300651, Gene2Phenotype
PORCN is in 13 panels
1 review
Rebecca Foulger (Genomics England curator)
This gene was demoted from Green to Grey as the gene is not present on the shorter revised list subsequently submitted by Thomas Cullup and Veronica Kinsler (London North GLH) on 18.Feb.2019 to more accurately match Clinical Indication R230.Created: 19 Feb 2019, 7:43 p.m.
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: 29 Jan 2019, 10:38 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
-
- Expert Review Removed
- London North GLH
- NHS GMS
- Phenotypes
-
- Focal dermal hypoplasia,305600
- Tags
- OMIM
- 300651
- Clinvar variants
- Variants in PORCN
- Penetrance
- None
- 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
26 Feb 2021, Gel status: 0
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: PORCN.
19 Feb 2019, Gel status: 0
Added New Source, Status Update
Rebecca Foulger (Genomics England curator)Source Expert Review Removed was added to PORCN. Rating Changed from Green List (high evidence) to No List (delete)
18 Feb 2019, Gel status: 4
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to PORCN.
29 Jan 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: PORCN was added gene: PORCN was added to Multiple monogenic benign skin tumours. 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,305600