| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Epidermolysis bullosa v1.13 | KRT6C | Bryony Thompson Marked gene: KRT6C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.13 | KRT6C | Bryony Thompson Gene: krt6c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.13 | KRT6C | Bryony Thompson Classified gene: KRT6C as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.13 | KRT6C | Bryony Thompson Gene: krt6c has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.5 | KRT6C |
Sangavi Sivagnanasundram 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 Added comment: 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: Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||