| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Photosensitivity Syndromes v0.3 | UROS | Zornitza Stark Marked gene: UROS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.3 | UROS | Zornitza Stark Gene: uros has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.3 | UROS | Zornitza Stark Classified gene: UROS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.3 | UROS | Zornitza Stark Gene: uros has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.2 | UROS |
Crystle Lee gene: UROS was added gene: UROS was added to Photosensitivity Syndromes. Sources: Expert Review Mode of inheritance for gene: UROS was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UROS were set to 28334762; 27512208 Phenotypes for gene: UROS were set to Porphyria, congenital erythropoietic (MIM#263700) Review for gene: UROS was set to GREEN Added comment: >10 missense variants reported in CEP patients. Photosensitivity is a significant feature of this phenotype. PMID: 28334762: Performed in silico and in vitro studies on 29 missense variants previously reported in patients. Sources: Expert Review |
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