| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Epidermolysis bullosa v1.12 | KRT6B | Bryony Thompson Marked gene: KRT6B as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.12 | KRT6B | Bryony Thompson Gene: krt6b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.12 | KRT6B | Bryony Thompson Classified gene: KRT6B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.12 | KRT6B | Bryony Thompson Gene: krt6b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.5 | KRT6B |
Sangavi Sivagnanasundram gene: KRT6B was added gene: KRT6B was added to Epidermolysis bullosa. Sources: Other Mode of inheritance for gene: KRT6B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT6B were set to 24611874; 21326300 Phenotypes for gene: KRT6B were set to Pachyonychia congenita 4 MIM#615728 Mode of pathogenicity for gene: KRT6B was set to Other Review for gene: KRT6B was set to GREEN Added comment: Previously known as Jadassohn-Lewandowsky PC type 1 and Jackson-Lawler PC type 2 Mutants are found to have a dominant-negative most of pathogenicity. PMID: 24611874 Multiple families with either plantar keratoderma or palmopantar keratoderma phenotypes with a mutation in KRT6B PMID: 21326300 The most common reported mutation K6b p.Glu472Lys in families with KRT6B-related Pachyonychia congenita Sources: Other |
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