Palmoplantar keratoderma and erythrokeratodermas
Gene: KRT6BComment 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.
Promoted to Version 1, April 11th 2017: Reviews were assessed, and panel was revised according to expert review and additional curation.
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Publications for KRT6B were set to 9618173; 16250204
Publications for KRT6B were set to 9618173; 16250204
Phenotypes for KRT6B were set to Pachyonychia congenita 4, 615728; PC4; pachyonychia congenita type 2 (PC-2)
Phenotypes for KRT6B were set to Pachyonychia congenita 4, 615728; PC4; pachyonychia congenita type 2
Mode of inheritance for KRT6B was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for KRT6B were set to Pachyonychia congenita 4, 615728; PC4
KRT6B was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: Radboud University Medical Center, Nijmegen
KRT6B was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Source: UKGTN
KRT6B was created by ellenmcdonagh
KRT6B was added to Palmoplantar keratoderma and erythrokeratodermaspanel. Sources: Eligibility statement prior genetic testing