Deafness and congenital structural abnormalities
Gene: PORCNEnsemblGeneIds (GRCh38): ENSG00000102312
EnsemblGeneIds (GRCh37): ENSG00000102312
OMIM: 300651, Gene2Phenotype
PORCN is in 13 panels
2 reviews
Muriel Holder (Clinical Genetics, Guy's Hospital)
PORCN is Goltz syndrome gene, different to this phenotypeCreated: 17 Oct 2016, 12:34 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)
Mode of pathogenicity
Other
Sarah Leigh (Genomics England Curator)
Comment on list classification: Ear malformation is not always a feature of Fraser syndromeCreated: 20 Sep 2016, 6:38 a.m.
Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least five variants reported.Created: 19 Sep 2016, 2:53 p.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 Red
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- Phenotypes
-
- Focal Dermal Hypoplasia, 305600
- OMIM
- 300651
- Clinvar variants
- Variants in PORCN
- Penetrance
- Complete
- Panels with this gene
-
- Deafness and congenital structural abnormalities
- Multiple monogenic benign skin tumours
- Limb disorders
- DDG2P
- Intellectual disability
- Ectodermal dysplasia without a known gene mutation
- Structural eye disease
- Ocular coloboma
- Mosaic skin disorders - deep sequencing
- Fetal anomalies
- Pigmentary skin disorders
- Ectodermal dysplasia
- Clefting
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)26th Oct 2016: the panels Bilateral microtia version 1.10, Ear malformations with hearing impairment version 0.105, and familial hemifacial microsomia version 0.149 gene panels were combined to create this panel. The panel was revised due to expert review, further curation of evidence and internal clinical evaluation. Ready for promotion to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Sarah Leigh (Genomics England Curator)PORCN was added to Deafness and congenital structural abnormalitiespanel. Source: Expert Review Red
Created
Sarah Leigh (Genomics England Curator)PORCN was created by sleigh
Added New Source
Sarah Leigh (Genomics England Curator)PORCN was added to Deafness and congenital structural abnormalitiespanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen