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| Epidermolysis bullosa and congenital skin fragility v1.5 | ATP2C1 | Ivone Leong Phenotypes for gene: ATP2C1 were changed from to Hailey-Hailey disease, OMIM:169600 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.24 | ATP2C1 | Catherine Snow edited their review of gene: ATP2C1: Added comment: Following discussion with the Genomics England clinical team ATP2C1 can be classified as Green.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.22 | ATP2C1 | Catherine Snow Classified gene: ATP2C1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.22 | ATP2C1 | Catherine Snow Gene: atp2c1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.15 | ATP2C1 | Catherine Snow reviewed gene: ATP2C1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Epidermolysis bullosa and congenital skin fragility v0.14 | ATP2C1 |
Catherine Snow gene: ATP2C1 was added gene: ATP2C1 was added to Epidermolysis bullosa and congenital skin fragility. Sources: Expert Review Amber Mode of inheritance for gene: ATP2C1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
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