Epidermolysis bullosa
Gene: KLHL24Comment on list classification: Gene added to panel as green after expert review, comments and published cases.Created: 31 Oct 2017, 3 p.m.
Experts in EB have been including this gene as the 19th EB gene since December 2016 following publications in Nat Genet and AJHG. Now there are 26 individuals from 21 families reported. All mutations affect p.Met1 leading to generation of truncated more stable protein which affects ubiquinitination of keratin 14, compromising keratin filament integrity and leading to fragility of basal keratinocytes in the epidermis. This gene will definitely be included in the next international consensus for the classification of EB. I would be very appropriate to add this to the Genomics England panel for epidermolysis bullosa right now.Created: 25 Apr 2017, 9:11 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Epidermolysis bullosa simplex (autosomal dominant)
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
KLHL24 was created by John McGrath
KLHL24 was added to Epidermolysis bullosapanel. Sources: Literature