Epidermolysis bullosa
Gene: FERMT1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Kindler syndrome (a separate category of Epidermolysis bullosa)
Comment on list classification: changed status from grey to green based on expert reviewer suggestion and evidence in the literatureCreated: 24 Apr 2017, 3:31 p.m.
Comment on publications: Added publications to support gene is involved in the disorder(s) in 3 or more unrelated cases : Kindler syndrome
Created: 24 Apr 2017, 3:31 p.m.
Comment on phenotypes: reformatted and added suggestions from expert reviewer and added MIMidCreated: 24 Apr 2017, 3:28 p.m.
Panel reviews were assessed, and panel was revised according to reviews and further curation.
FERMT1 was added to Epidermolysis bullosapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
This gene has been classified as Green List (High Evidence).
Publications for FERMT1 were set to 12668616; 12789646;27862150;27489438
Phenotypes for FERMT1 were set to Kindler syndrome,173650; Kindler syndrome (a separate category of Epidermolysis bullosa)
FERMT1 was created by JAM22HP
FERMT1 was added to Epidermolysis bullosapanel. Sources: Expert Review