Limb disorders
Gene: PORCNComment on list classification: Changing rating to Green. More than 3 cases where syndactyly is reported in patients with point mutations resulting in stop mutations in publication PMID:17546031 alone.Created: 6 Nov 2018, 5:26 p.m.
Genomics England clinical team notes - Not primarily limb (focal dermal hypoplasia/Goltz Gorlin)Created: 9 Sep 2018, 5:52 p.m.
Comment on list classification: Rated Amber after review by Genomics England clinical teamCreated: 9 Sep 2018, 5:52 p.m.
Comment on publications: More than 3 unrelated female cases reported.Created: 9 Apr 2018, 4:29 p.m.
Comment on list classification: This is a confirmed DD gene for focal dermal hypoplasia (Gene2Phenotype), with HPO terms included; Foot oligodactyly, Foot polydactyly, Hand oligodactyly, postaxial hand polydactyly, split foot, split hand, toe syndactyly,Created: 9 Apr 2018, 4:24 p.m.
Sourced from the Genetics Home Reference - "Many individuals with focal dermal hypoplasia have hand and foot abnormalities".Created: 9 Apr 2018, 4:22 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
Ellen McDonagh: Sourced from the Genetics Home
Gene: porcn has been classified as Green List (High Evidence).
Gene: porcn has been classified as Green List (High Evidence).
Gene: porcn has been classified as Amber List (Moderate Evidence).
Victorian Clinical Genetics Services was added to PORCN. Panel: Limb disorders Phenotypes for gene PORCN were set to focal dermal hypoplasia 305600, Polydactyly
This gene has been classified as Green List (High Evidence).
Publications for PORCN were set to 17546030; 17546031; 18325042; 19309688; 19863546
This gene has been classified as Red List (Low Evidence).
Phenotypes for PORCN were set to focal dermal hypoplasia 305600
PORCN was added to Limb disorders panel. Sources: Other
PORCN was created by Ellen McDonagh