Palmoplantar keratoderma and erythrokeratodermas
Gene: KRT9Comment 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.
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
Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
Phenotypes for KRT9 were set to Palmoplantar keratoderma, epidermolytic, 144200; Epidermolytic Palmoplantar Keratoderma (EPPK); Palmoplantar Keratoderma, Epidermolytic; Diffuse keratoderma; Diffuse keratoderma with knuckle pads; Diffuse keratoderma with digital mutilation; Vörner type palmoplantar keratoderma
Publications for KRT9 were set to 7511021; 7512862; 7532199; 12838553; 21410681
Mode of inheritance for KRT9 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for KRT9 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
KRT9 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: UKGTN
KRT9 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene KRT9 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
KRT9 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: Radboud University Medical Center, Nijmegen
KRT9 was created by ellenmcdonagh
KRT9 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Eligibility statement prior genetic testing