Ichthyosis and erythrokeratoderma

Gene: KRT16

Green List (high evidence)

KRT16 (keratin 16)
EnsemblGeneIds (GRCh38): ENSG00000186832
EnsemblGeneIds (GRCh37): ENSG00000186832
OMIM: 148067, Gene2Phenotype
KRT16 is in 3 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.

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
Phenotypes
  • Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200
  • focal non-epidermolytic palmoplantar keratoderma (NEPPK)
  • striate keratoderma (palmar)
  • Palmoplantar keratoderma, nonepidermolytic, focal, 613000
  • Pachyonychia Congenita, Type 1
  • focal keratoderma (palmar)
  • Focal keratoderma
  • FNEPPK1
  • Pachyonychia congenita (PC)
OMIM
148067
Clinvar variants
Variants in KRT16
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 Jan 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: KRT16 was added gene: KRT16 was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: KRT16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT16 were set to 21160496; 8595410; 21790523; 7539673 Phenotypes for gene: KRT16 were set to Pachyonychia congenita, Jadassohn-Lewandowsky type, 167200; focal non-epidermolytic palmoplantar keratoderma (NEPPK); striate keratoderma (palmar); Palmoplantar keratoderma, nonepidermolytic, focal, 613000; Pachyonychia Congenita, Type 1; focal keratoderma (palmar); Focal keratoderma; FNEPPK1; Pachyonychia congenita (PC)