Familial hidradenitis suppurativa

Gene: KRT17

Red List (low evidence)

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

2 reviews

John McGrath (KCL)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

Comment on list classification: Kept rating as red based on expert review, and insufficient evidence for disease causation.
Created: 6 Jul 2017, 2:13 p.m.
PMID:2248894 (1990) describe a family with PC-2 and HS phenotypes; paper pre-dates gene information. PMID:10571744 (1999) report a heterozygous KRT17 mutation in a family (proband plus proband's son) with PC-2 and hidradenitis suppurativa.
Created: 19 Jun 2017, 10:23 a.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Other
Phenotypes
  • Pachyonychia congenita 2, 167210
  • pachyonychia congenita with hidradenitis suppurativa
OMIM
148069
Clinvar variants
Variants in KRT17
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

6 Jul 2017, Gel status: 1

panel promoted to version 1

Rebecca Foulger (Genomics England curator)

6th July 2017: Revised panel and promoted to Version 1.0 based on expert review. Although PSENEN, NCSTN and PSEN1 (all green genes on this panel) collectively only account for approximately 7% of all hidradenitis suppurativa (HS), there is insufficient evidence to promote any further genes to green at this time.

6 Jul 2017, Gel status: 1

Gene classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

This gene has been classified as Red List (Low Evidence).

19 Jun 2017, Gel status: 0

Created

Rebecca Foulger (Genomics England curator)

KRT17 was created by rfoulger

19 Jun 2017, Gel status: 0

Added New Source

Rebecca Foulger (Genomics England curator)

KRT17 was added to Familial hidradenitis suppurativapanel. Sources: Other