| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Epidermolysis bullosa v1.10 | KRT17 | Bryony Thompson Marked gene: KRT17 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.10 | KRT17 | Bryony Thompson Gene: krt17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.10 | KRT17 | Bryony Thompson Classified gene: KRT17 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.10 | KRT17 | Bryony Thompson Gene: krt17 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.9 | KRT17 | Bryony Thompson Mode of pathogenicity for gene: KRT17 was changed from None to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v1.5 | KRT17 |
Sangavi Sivagnanasundram gene: KRT17 was added gene: KRT17 was added to Epidermolysis bullosa. Sources: Other Mode of inheritance for gene: KRT17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KRT17 were set to 11886499; 21326300 Phenotypes for gene: KRT17 were set to Pachyonychia congenita 2 (MIM#167210) Review for gene: KRT17 was set to GREEN Added comment: Also reported as Jackson-Lawler type syndrome PMID: 11886499 4 unrelated individuals with pachyonychia congenita like phenotype PMID: 21326300 Heterozygous pathogenic mutations have a dominant-negative effect on the KRT17 protein Sources: Other |
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