Epidermolysis bullosaGene: TGM5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
acral peeling skin sydrome (classified as a form of Epidermolysis bullosa)
Comment on list classification: Changed status from amber to green based on expert reviewer suggestion and evidence in the literature
Created: 24 Apr 2017, 3:27 p.m.
Comment on publications: Added publications to support gene is involved in the disorder(s) in 3 or more unrelated cases: Peeling skin syndrome
Created: 24 Apr 2017, 3:26 p.m.
Comment on phenotypes: added MIMid and synonym
Created: 24 Apr 2017, 3:24 p.m.
Comment on mode of inheritance: updated MOI due to reviewer comment and evidence in publications
Created: 24 Apr 2017, 3:21 p.m.
Panel reviews were assessed, and panel was revised according to reviews and further curation.
This gene has been classified as Green List (High Evidence).
Publications for TGM5 were set to 16380904;20164844;22036214;22622422
Phenotypes for TGM5 were set to Peeling skin syndrome 2, 609796; Acral peeling skin sydrome
Mode of inheritance for TGM5 was changed to BIALLELIC, autosomal or pseudoautosomal
TGM5 was added to Epidermolysis bullosapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
TGM5 was created by ellenmcdonagh
TGM5 was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing