Primary lymphoedemaGene: ZNHIT3
Added 'founder-effect' tag based on PMID:28335020, and S31L variant found in patients in the Finnish population.
Created: 15 Aug 2017, 10:55 a.m.
Comment on list classification: Kept rating as red: only 1 reported variant to-date in a single population (PMID:28335020) and not yet classified in DD-G2P.
Created: 15 Aug 2017, 10:54 a.m.
In 24 patients of Finnish descent with PEHO syndrome (MIM:260565), Anttonen et al. (2017, PMID:28335020) identified a homozygous missense mutation in the ZNHIT3 gene (S31L).
Created: 15 Aug 2017, 10:51 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
PEHO syndrome, 260565
This gene has been classified as Red List (Low Evidence).
ZNHIT3 was created by rfoulger
ZNHIT3 was added to Lymphatic Disorderspanel. Sources: Other