Epidermolysis bullosa
Gene: EXPH5
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Epidermolysis bullosa simplex
Comment on list classification: Changed status from Red to Green based on expert reviewer suggestion and evidence in the literatureCreated: 21 Apr 2017, 12:53 p.m.
Comment on publications: Added publications to support gene is involved in the disorder(s) in 3 or more unrelated cases : Epidermolysis bullosa simplexCreated: 21 Apr 2017, 12:53 p.m.
Comment on phenotypes: reformatted and added suggestions from expert reviewerCreated: 21 Apr 2017, 12:50 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 EXPH5 were set to 23176819;26719633;27730671
Phenotypes for EXPH5 were set to Epidermolysis bullosa, nonspecific, autosomal recessive, 615028;Epidermolysis bullosa simplex
Phenotypes for EXPH5 were set to Epidermolysis bullosa, nonspecific, autosomal recessive, 615028
Mode of inheritance for EXPH5 was changed to BIALLELIC, autosomal or pseudoautosomal
EXPH5 was added to Epidermolysis bullosapanel. Source: Radboud University Medical Center, Nijmegen
EXPH5 was added to Epidermolysis bullosapanel. Sources: Eligibility statement prior genetic testing
EXPH5 was created by ellenmcdonagh