| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Epidermolysis bullosa v1.8 | KRT16 | Bryony Thompson Marked gene: KRT16 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.8 | KRT16 | Bryony Thompson Gene: krt16 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.8 | KRT16 | Bryony Thompson Classified gene: KRT16 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.8 | KRT16 | Bryony Thompson Gene: krt16 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.5 | KRT16 |
Sangavi Sivagnanasundram gene: KRT16 was added gene: KRT16 was added to Epidermolysis bullosa. Sources: Other Mode of inheritance for gene: KRT16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT16 were set to 16250206 Phenotypes for gene: KRT16 were set to Pachyonychia congenita 1 (MIM#167200) Mode of pathogenicity for gene: KRT16 was set to Other Review for gene: KRT16 was set to GREEN Added comment: PMID: 16250206 Typically identified by nail bed, palmoplantar epidermis (widespread), epidermal appendages, oral mucosa and wound healing. >5 unrelated families with a consistent phenotype of PC and a heterozygous missense variant in KRT16. Sources: Other |
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