Epidermolysis bullosa

Gene: KLHL24

Green List (high evidence)

KLHL24 (kelch like family member 24)
EnsemblGeneIds (GRCh38): ENSG00000114796
EnsemblGeneIds (GRCh37): ENSG00000114796
OMIM: 611295, Gene2Phenotype
KLHL24 is in 1 panel

2 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: Gene added to panel as green after expert review, comments and published cases.
31 Oct 2017, 3 p.m.

John McGrath (KCL)

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.
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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Epidermolysis bullosa simplex (autosomal dominant)
OMIM
611295
Clinvar variants
Variants in KLHL24
Penetrance
Complete
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 - please provide details in the comments
Panels with this gene

History Filter Activity

31 Oct 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

31 Oct 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

25 Apr 2017, Gel status: 0

Created

John McGrath (KCL)

KLHL24 was created by John McGrath

25 Apr 2017, Gel status: 0

Added New Source

John McGrath (KCL)

KLHL24 was added to Epidermolysis bullosapanel. Sources: Literature