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  3. KRT16
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Palmoplantar keratoderma and erythrokeratodermas

Gene: KRT16

Green List (high evidence)
KRT16 (keratin 16)
EnsemblGeneIds (GRCh38): ENSG00000186832
EnsemblGeneIds (GRCh37): ENSG00000186832
OMIM: 148067, Gene2Phenotype
KRT16 is in 2 panels

2 reviews

Rebecca Foulger (Genomics England curator)

Comment when marking as ready: 1 Green review plus 3 KRT16 variants recorded in OMIM for Palmoplantar keratoderma, nonepidermolytic, focal (FNEPPK1, OMIM:613000) including one deletion. >3 KRT16 variants in OMIM for Pachyonychia congenita (PC1; OMIM:167200). Lots of literature linking KRT16 with these skin disorders.
Created: 5 Jan 2017, 2:11 p.m.
Comment on list classification: Updated rating from Amber to green: 1 green review plus >3 KRT16 variants in OMIM associated with palmoplantar keratoderma.
Created: 5 Jan 2017, 2:11 p.m.
Comment on mode of inheritance: Mode of inheritance suggested by reviewer, and confirmed by OMIM.
Created: 5 Jan 2017, 2:03 p.m.
Created: 5 Jan 2017, 2:03 p.m.

Panel version: 0.22

Edel O'Toole (Queen Mary University of London)

Green List (high evidence)

All patients with KRT16 mutation will have plantar pain
Created: 16 Nov 2015, 8:05 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Pachyonychia congenita; focal keratoderma; striate keratoderma (palmar) and focal keratoderma (plantar)

Publications

Created: 16 Nov 2015, 8:05 p.m.

Panel version: 0

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
Phenotypes
  • Focal keratoderma
  • Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200
  • Palmoplantar keratoderma, nonepidermolytic, focal, 613000
  • Pachyonychia Congenita, Type 1
  • focal non-epidermolytic palmoplantar keratoderma (NEPPK)
  • FNEPPK1
  • striate keratoderma (palmar)
  • focal keratoderma (palmar)
  • Pachyonychia congenita (PC)
OMIM
148067
Clinvar variants
Variants in KRT16
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

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 KRT16 were set to Focal keratoderma; Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; Palmoplantar keratoderma, nonepidermolytic, focal, 613000; Pachyonychia Congenita, Type 1; focal non-epidermolytic palmoplantar keratoderma (NEPPK); FNEPPK1; striate keratoderma (palmar); focal keratoderma (palmar); Pachyonychia congenita (PC)

5 Jan 2017, Gel status: 2

Set publications

Rebecca Foulger (Genomics England curator)

Publications for KRT16 were set to 7539673; 8595410; 21790523; 21160496

5 Jan 2017, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for KRT16 were set to Focal keratoderma; Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; Palmoplantar keratoderma, nonepidermolytic, focal, 613000; Pachyonychia Congenita, Type 1; focal non-epidermolytic palmoplantar keratoderma (NEPPK); striate keratoderma (palmar); focal keratoderma (palmar); Pachyonychia congenita (PC)

5 Jan 2017, Gel status: 2

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for KRT16 were set to Focal keratoderma; Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; Palmoplantar keratoderma, nonepidermolytic, focal, 613000; Pachyonychia Congenita, Type 1; focal non-epidermolytic palmoplantar keratoderma (NEPPK); striate keratoderma (palmar); focal keratoderma (palmar)

5 Jan 2017, Gel status: 2

Set Mode of Inheritance

Rebecca Foulger (Genomics England curator)

Mode of inheritance for KRT16 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

27 Oct 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

KRT16 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: UKGTN

27 Oct 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

KRT16 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)

KRT16 was created by ellenmcdonagh

27 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

KRT16 was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Eligibility statement prior genetic testing