Ichthyosis and erythrokeratoderma

Gene: KRT9

Green List (high evidence)

KRT9 (keratin 9)
EnsemblGeneIds (GRCh38): ENSG00000171403
EnsemblGeneIds (GRCh37): ENSG00000171403
OMIM: 607606, Gene2Phenotype
KRT9 is in 3 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: 1 Green review plus >3 KRT9 variants listed in OMIM for palmoplantar keratoderma, epidermolytic (EPPK, OMIM:144200). Not yet a confirmed DD gene for OMIM:144200 but plenty of literature linking KRT9 and the EPPK disorder.
Created: 5 Jan 2017, 2:01 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.
Created: 5 Jan 2017, 1:56 p.m.

Edel O'Toole (Queen Mary University of London)

Green List (high evidence)

Digital mutilation or constriction is rare.
Created: 16 Nov 2015, 7:46 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Diffuse keratoderma; Diffuse keratoderma with knuckle pads; diffuse keratoderma with digital mutilation

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Palmoplantar Keratoderma, Epidermolytic
  • Diffuse keratoderma with knuckle pads
  • Diffuse keratoderma with digital mutilation
  • V rner type palmoplantar keratoderma
  • Diffuse keratoderma
  • Palmoplantar keratoderma, epidermolytic, 144200
  • Epidermolytic Palmoplantar Keratoderma (EPPK)
OMIM
607606
Clinvar variants
Variants in KRT9
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: KRT9 was added gene: KRT9 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: KRT9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT9 were set to 7511021; 12838553; 21410681; 7512862; 7532199 Phenotypes for gene: KRT9 were set to Palmoplantar Keratoderma, Epidermolytic; Diffuse keratoderma with knuckle pads; Diffuse keratoderma with digital mutilation; V rner type palmoplantar keratoderma; Diffuse keratoderma; Palmoplantar keratoderma, epidermolytic, 144200; Epidermolytic Palmoplantar Keratoderma (EPPK)