Ichthyosis and erythrokeratoderma

Gene: KRT6B

Green List (high evidence)

KRT6B (keratin 6B)
EnsemblGeneIds (GRCh38): ENSG00000185479
EnsemblGeneIds (GRCh37): ENSG00000185479
OMIM: 148042, Gene2Phenotype
KRT6B is in 2 panels

3 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
pachyonychia congenita type 2 (PC-2);Pachyonychia congenita 4, 615728;PC4
Created: 23 Mar 2021, 3:25 p.m. | Last Modified: 23 Mar 2021, 3:25 p.m.
Panel Version: 1.39

Edel O'Toole (Queen Mary University of London)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Pachyonychia congenita


Rebecca Foulger (Genomics England curator)

Comment when marking as ready: 1 Green review plus KRT6B is listed in the 'Eligibility statement, Prior Genetic Testing'. 3 cases (from 2 papers) based on 1 variant linking KRT6B to Pachyonychia congenita.
Created: 10 Jan 2017, 5:10 p.m.
Comment on list classification: Updated rating from Amber to Green: One green review plus KRT6B is included in the Eligibility statement 'Prior Genetic Testing' list. 1 Variant listed in OMIM for 3 families. Not yet a confirmed DD gene.
Created: 9 Jan 2017, 12:12 p.m.
In 2 families (families 29 and 30) segregating pachyonychia congenita, Smith et al. (2005, PMID:16250206) identified heterozygosity for the same E472K mutation in the KRT6B gene that had been identified in a Dutch family in their earlier paper (Smith et al.,1998, PMID:9618173). Haplotype analysis showed that family 29 had an independent occurrence of the mutation; haplotype analysis was not possible in family 30 because of lack of samples, but the family was not of Dutch ancestry.
Created: 5 Jan 2017, 4:44 p.m.
In a family with autosomal dominant pachyonychia congenita (PC4; 615728), Smith et al. (PMID:9618173, 1998) described a heterozygous 1459G-A mutation in KRT6B that predicted a glu472-to-lys (E472K) substitution. The clinical features pictured included focal palmoplantar keratoderma.
Created: 5 Jan 2017, 4:43 p.m.
Comment on publications: PMID:9618173 (Smith et al., 1998) reports that a mutation in KRT6B produces a phenocopy of the K17 disorder pachyonychia congenita type 2 (PC-2).
Created: 5 Jan 2017, 4:35 p.m.
Comment on mode of inheritance: Mode of inheritance confirmed by OMIM.
Created: 5 Jan 2017, 4:30 p.m.


Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
  • Expert Review Green
  • Pachyonychia congenita 4, OMIM:615728
Clinvar variants
Variants in KRT6B
Panels with this gene

History Filter Activity

23 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: KRT6B were changed from pachyonychia congenita type 2 (PC-2); Pachyonychia congenita 4, 615728; PC4 to Pachyonychia congenita 4, OMIM:615728

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: KRT6B was added gene: KRT6B was added to Ichthyosis and erythrokeratoderma. Sources: Expert Review Green Mode of inheritance for gene: KRT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT6B were set to 16250204; 9618173 Phenotypes for gene: KRT6B were set to pachyonychia congenita type 2 (PC-2); Pachyonychia congenita 4, 615728; PC4