| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Epidermolysis bullosa v0.26 | ATP2C1 | Zornitza Stark Marked gene: ATP2C1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.26 | ATP2C1 | Zornitza Stark Gene: atp2c1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.26 | ATP2C1 | Zornitza Stark Classified gene: ATP2C1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.26 | ATP2C1 | Zornitza Stark Gene: atp2c1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa v0.24 | ATP2C1 |
Ain Roesley gene: ATP2C1 was added gene: ATP2C1 was added to Epidermolysis bullosa. Sources: Literature Mode of inheritance for gene: ATP2C1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: ATP2C1 were set to 28551824 Phenotypes for gene: ATP2C1 were set to Hailey-Hailey disease (MIM# 169600) Penetrance for gene: ATP2C1 were set to unknown Review for gene: ATP2C1 was set to GREEN Added comment: Skin blistering is a feature of Hailey-Hailey disease. PMID: 28551824; At least 177 variants reported in this gene for Hailey-Hailey disease Sources: Literature |
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