Palmoplantar keratoderma and erythrokeratodermas

Gene: KRT17

Green List (high evidence)

KRT17 (keratin 17)
EnsemblGeneIds (GRCh38): ENSG00000128422
EnsemblGeneIds (GRCh37): ENSG00000128422
OMIM: 148069, Gene2Phenotype
KRT17 is in 5 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: Rated as green by review plus >3 variants in OMIM, and mode of inheritance complete based on literature evidence.
Created: 5 Jan 2017, 3:52 p.m.
Comment on mode of inheritance: Changed the mode-of-inheritance to 'Both monoallelic and biallelic, with biallelic being more severe based on the two homozygous probands in PMID:22336949.
Created: 5 Jan 2017, 3:50 p.m.
Comment on list classification: Updated rating from Amber to green: 1 Green review plus >3 KRT17 variants listed in OMIM for >3 unrelated families presenting with pachyonychia congenita (OMIM:167210).
Created: 5 Jan 2017, 2:40 p.m.
>3 KRT17 variants listed in OMIM for >3 unrelated families presenting with pachyonychia congenita (OMIM:167210).
Created: 5 Jan 2017, 2:40 p.m.
Pachyonychia congenita (PC) is an autosomal dominant genodermatosis with the main clinical features of hypertrophic nail dystrophy, painful and highly debilitating plantar keratoderma, oral leukokeratosis, and a variety of epidermal cysts.
Created: 5 Jan 2017, 2:39 p.m.
Although homozygosity for dominant mutations in keratin genes is rare, PMID:22336949 (Wilson et al., 2012) present two families with a proband containing homozygous mutations in KRT17 (c.275A4G, p.Asn92Ser in Family 1 and c.280C4T, p.ARg94Cyc in Family 2). The features typical of Pachyonychia congenita (PC) were more severe in the homozygous cases than heterozygotes, and the additional feature of hair loss was seen in both cases.
Created: 5 Jan 2017, 2:39 p.m.

Edel O'Toole (Queen Mary University of London)

Green List (high evidence)

Two families reported with homozygous dominant mutations (both parents ? affected). More severe phenotype with alopecia. PMID:
22336949
Created: 16 Nov 2015, 8:16 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
pachyonychia congenita; steatocystoma multiplex

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Eligibility statement prior genetic testing
Phenotypes
  • Pachyonychia Congenita, Type 2
  • Pachyonychia congenita, Jackson-Lawler type, 167210
  • Steatocystoma multiplex, 184500
OMIM
148069
Clinvar variants
Variants in KRT17
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: 4

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for KRT17 was changed to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

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: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for KRT17 were set to Pachyonychia Congenita, Type 2; Pachyonychia congenita, Jackson-Lawler type, 167210; Steatocystoma multiplex, 184500

5 Jan 2017, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for KRT17 were set to 7539673; 9008238; 15102078; 19659471; 22336949

5 Jan 2017, Gel status: 2

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for KRT17 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

KRT17 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: Radboud University Medical Center, Nijmegen

27 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KRT17 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: UKGTN

27 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KRT17 was created by ellenmcdonagh

27 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KRT17 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Eligibility statement prior genetic testing