Epidermolysis bullosa and congenital skin fragility
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.
Phenotypes for gene: FERMT1 were changed from Kindler syndrome (a separate category of Epidermolysis bullosa); Kindler syndrome,173650 to Kindler syndrome, OMIM:173650
gene: FERMT1 was added gene: FERMT1 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: FERMT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FERMT1 were set to 12789646; 27489438; 27862150; 12668616 Phenotypes for gene: FERMT1 were set to Kindler syndrome (a separate category of Epidermolysis bullosa); Kindler syndrome,173650