| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Photosensitivity Syndromes v0.7 | CPOX | Zornitza Stark Marked gene: CPOX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.7 | CPOX | Zornitza Stark Gene: cpox has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.7 | CPOX | Zornitza Stark Classified gene: CPOX as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.7 | CPOX | Zornitza Stark Gene: cpox has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Photosensitivity Syndromes v0.6 | CPOX |
Zornitza Stark gene: CPOX was added gene: CPOX was added to Photosensitivity Syndromes. Sources: Expert list Mode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CPOX were set to 30828546; 28349448; 23582006; 24156084 Phenotypes for gene: CPOX were set to Coproporphyria 121300; Harderoporphyria 618892 Review for gene: CPOX was set to GREEN Added comment: PMID: 30828546 - 1 chet patient (missense/inframe deletion) with harderoporphyria and chronic cutaneous photosensitivity. PMID: 28349448 - 1 het (PTC) neonatal patient with coproporphyria and skin photosensitivity PMID: 23582006 - 1 het (missense) adult patient with photosensitivity and skin fragility. Incomplete penetrance reported. PMID: 24156084 - 1 het (PTC) adult patient with coproporphyria Sources: Expert list |
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