| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Epidermolysis bullosa v0.42 | SERPINB8 | Zornitza Stark Marked gene: SERPINB8 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.42 | SERPINB8 | Zornitza Stark Gene: serpinb8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.42 | SERPINB8 | Zornitza Stark Classified gene: SERPINB8 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.42 | SERPINB8 | Zornitza Stark Gene: serpinb8 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.41 | SERPINB8 |
Zornitza Stark gene: SERPINB8 was added gene: SERPINB8 was added to Epidermolysis bullosa. Sources: Expert list Mode of inheritance for gene: SERPINB8 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERPINB8 were set to 27476651 Phenotypes for gene: SERPINB8 were set to Peeling skin syndrome 5 (MIM#617115) Review for gene: SERPINB8 was set to AMBER Added comment: PMID:27476651 describes 3 families with what they refer to as exfoliative ichthyosis. Histological analysis of a skin biopsy showed disadhesion of keratinocytes in the lower epidermal layers. In vitro studies showed that in the absence of the protein, there is a cell-cell adhesion defect, supportive of this being a skin fragility disorder. Phenotype sits between ichthyosis and skin fragility, hence rated Amber on this panel. Sources: Expert list |
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