Limb disorders

Gene: PORCN

Comment 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 team

Created: 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