Epidermolysis bullosa and congenital skin fragility

Gene: KLHL24

Comment on publications: Previous publications:
99(6):1395-1404. J Invest Dermatol. 2017 Jan 19. pii: S0022-202X(17)30032-5;48(12):1508-1516. Am J Hum Genet. 2016 Dec 1;Nat Genet. 2016 Dec

Created: 24 Mar 2021, 11:45 a.m. | Last Modified: 24 Mar 2021, 11:45 a.m.

Panel Version: 1.25

Comment on list classification: Gene added to panel as green after expert review, comments and published cases.

Created: 31 Oct 2017, 3 p.m.

Green List (high evidence)

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

• Nat Genet. 2016 Dec
• 48(12):1508-1516. Am J Hum Genet. 2016 Dec 1
• 99(6):1395-1404. J Invest Dermatol. 2017 Jan 19. pii: S0022-202X(17)30032-5

Mode of pathogenicity
Other

Variants in this GENE are reported as part of current diagnostic practice