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  3. KRT16
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Palmoplantar Keratoderma and Erythrokeratoderma

Gene: KRT16

Green List (high evidence)
KRT16 (keratin 16)
EnsemblGeneIds (GRCh38): ENSG00000186832
EnsemblGeneIds (GRCh37): ENSG00000186832
OMIM: 148067, Gene2Phenotype
KRT16 is in 5 panels

1 review

Naomi Baker (Victorian Clinical Genetics Services)

Green List (high evidence)

Multiple individuals reported with monoallelic KRT16 mutations. Patients present with focal non epidermolytic palmoplantar keratoderma, have oral mucosal and follicular lesions in addition to the palmoplantar hyperkeratosis, while patients with pachyonychia congenita 1 also have nail dystrophy.
Created: 12 Aug 2020, 7:30 a.m. | Last Modified: 12 Aug 2020, 7:30 a.m.
Panel Version: 0.8

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000); Pachyonychia congenita 1 (MIM#167200)

Publications

Created: 12 Aug 2020, 7:30 a.m.
Last Modified: 12 Aug 2020, 7:30 a.m.
Panel version: 0.8

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000)
  • Pachyonychia congenita 1 (MIM#167200)
OMIM
148067
Clinvar variants
Variants in KRT16
Penetrance
None
Publications
Panels with this gene

History Filter Activity

12 Aug 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: krt16 has been classified as Green List (High Evidence).

12 Aug 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KRT16 were changed from to Palmoplantar keratoderma, nonepidermolytic, focal (MIM#613000); Pachyonychia congenita 1 (MIM#167200)

12 Aug 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KRT16 were set to

12 Aug 2020, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KRT16 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KRT16 was added gene: KRT16 was added to Palmoplantar keratoderma and erythrokeratoderma_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KRT16 was set to Unknown