Epidermolysis bullosaGene: MMP1
Currently there is not enough evidence to support this gene is involved in EB. PMID:24899116
Created: 24 Apr 2017, 3:02 p.m.
This is not an EB gene - there is a functional polymorphism in the promoter than may modify phenotypic severity in dystrophic EB but the data are limited.
Created: 19 Nov 2015, 3:43 p.m.
Panel reviews were assessed, and panel was revised according to reviews and further curation.
MMP1 was added to Epidermolysis bullosapanel. Sources: Radboud University Medical Center, Nijmegen
MMP1 was created by ellenmcdonagh