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  3. KRT9
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Palmoplantar keratoderma and erythrokeratodermas

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.
Created: 5 Jan 2017, 1:56 p.m.

Panel version: 0.19

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

Created: 16 Nov 2015, 7:46 p.m.

Panel version: 0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • 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
OMIM
607606
Clinvar variants
Variants in KRT9
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Apr 2017, Gel status: 4

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.

5 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

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

5 Jan 2017, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

5 Jan 2017, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for KRT9 were set to 7511021; 7512862; 7532199; 12838553; 21410681

5 Jan 2017, Gel status: 3

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for KRT9 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

5 Jan 2017, Gel status: 3

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for KRT9 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

KRT9 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: UKGTN

27 Oct 2015, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

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

27 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KRT9 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: Radboud University Medical Center, Nijmegen

27 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KRT9 was created by ellenmcdonagh

27 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KRT9 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Eligibility statement prior genetic testing