Epidermolysis bullosa and congenital skin fragility
Gene: KLHL24Comment 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 DecCreated: 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.
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
Phenotypes for gene: KLHL24 were changed from Epidermolysis bullosa simplex (autosomal dominant) to Epidermolysis bullosa simplex, generalized, with scarring and hair loss, OMIM:617294
Publications for gene: KLHL24 were set to 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
gene: KLHL24 was added gene: KLHL24 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Green Mode of inheritance for gene: KLHL24 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KLHL24 were set to 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 Phenotypes for gene: KLHL24 were set to Epidermolysis bullosa simplex (autosomal dominant) Mode of pathogenicity for gene: KLHL24 was set to Other - please provide details in the comments