| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Epidermolysis bullosa v1.11 | KRT6A | Bryony Thompson Marked gene: KRT6A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.11 | KRT6A | Bryony Thompson Gene: krt6a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.11 | KRT6A | Bryony Thompson Classified gene: KRT6A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.11 | KRT6A | Bryony Thompson Gene: krt6a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.5 | KRT6A |
Sangavi Sivagnanasundram gene: KRT6A was added gene: KRT6A was added to Epidermolysis bullosa. Sources: Other Mode of inheritance for gene: KRT6A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT6A were set to 32017015; 21326300 Phenotypes for gene: KRT6A were set to Pachyonychia congenita 3 MIM#615726 Mode of pathogenicity for gene: KRT6A was set to Other Review for gene: KRT6A was set to GREEN Added comment: Well established gene-disease association. Multiple families reported with hyperkeratotic disorders with skin fragility like symptoms. p.Asn172del is the most common mutation identified in families with Pachyonychia congenita Sources: Other |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||