Epidermolysis bullosa
Gene: KRT6CEnsemblGeneIds (GRCh38): ENSG00000170465
EnsemblGeneIds (GRCh37): ENSG00000170465
OMIM: 612315, Gene2Phenotype
KRT6C is in 3 panels
1 review
Sangavi Sivagnanasundram (Melbourne Health)
Phenotype overlap with Pachyonychia congenita (PC)
PMID: 31823354
Approx 23 unrelated families with mutation in KRT6C with phenotypes consistent with pachyonchia congenita
PMID: 23662636
In vitro assay in HaCaT cells showed the overexpression of mutant keratin 6c showed a collapse of the keratin filament network suggestive of dominant negative effect pathogenicity.
Sources: OtherCreated: 23 Jun 2023, 6:35 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735)
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Phenotypes
-
- Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735)
- OMIM
- 612315
- Clinvar variants
- Variants in KRT6C
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: krt6c has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: krt6c has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Sangavi Sivagnanasundram (Melbourne Health)gene: KRT6C was added gene: KRT6C was added to Epidermolysis bullosa. Sources: Other Mode of inheritance for gene: KRT6C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT6C were set to 31823354; 23662636 Phenotypes for gene: KRT6C were set to Palmoplantar keratoderma, nonepidermolytic, focal or diffuse (MIM#615735) Mode of pathogenicity for gene: KRT6C was set to Other Review for gene: KRT6C was set to GREEN