Structural eye disease
Gene: PORCNEnsemblGeneIds (GRCh38): ENSG00000102312
EnsemblGeneIds (GRCh37): ENSG00000102312
OMIM: 300651, Gene2Phenotype
PORCN is in 13 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Gisseman et al. 2016 published 14 unrelated cases with Focal Dermal Hypoplasia demonstrating an AMC phenotypeCreated: 19 Jun 2019, 3:32 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 305600
Publications
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). Gisseman et al. 2016 published 14 unrelated cases with Focal Dermal Hypoplasia demonstrating an AMC phenotypeCreated: 17 Apr 2019, 3:30 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 305600
Publications
Variants in this GENE are reported as part of current diagnostic practice
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
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Focal dermal hypoplasia 305600
- 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
Added New Source, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to PORCN. Added phenotypes Focal dermal hypoplasia 305600 for gene: PORCN Publications for gene PORCN were changed from 17546030, 24859618 to 24859618; 17546030
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ellen McDonagh (Genomics England Curator)gene: PORCN was added gene: PORCN was added to Structural eye disease. Sources: Expert Review Green 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) Publications for gene: PORCN were set to 17546030, 24859618 Phenotypes for gene: PORCN were set to Focal dermal hypoplasia 305600