Palmoplantar Keratoderma and Erythrokeratoderma
Gene: KRT6B

KRT6B (keratin 6B)
EnsemblGeneIds (GRCh38): ENSG00000185479
EnsemblGeneIds (GRCh37): ENSG00000185479
OMIM: 148042, Gene2Phenotype
KRT6B is in 5 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Also known as Jackson–Lawler type

PMID: 31823354;
- cohort of 815 individuals, 74 patients had variants in KRT6B
- approx 50% presented with palmar keratoderma and approx 98.6% with plantar keratoderma
Created: 17 Aug 2020, 2:23 a.m. | Last Modified: 17 Aug 2020, 2:23 a.m.

Panel Version: 0.45

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)

Phenotypes
Pachyonychia congenita 4 (MIM#615728)

Publications

31823354

Created: 17 Aug 2020, 2:23 a.m.
Last Modified: 17 Aug 2020, 2:23 a.m.
Panel version: 0.45

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Pachyonychia congenita 4 (MIM#615728)

OMIM

148042

Clinvar variants

Variants in KRT6B

Penetrance

None

Publications

31823354

Panels with this gene