| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Haem degradation and bilirubin metabolism defects v0.11 | CPOX | Zornitza Stark Marked gene: CPOX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haem degradation and bilirubin metabolism defects v0.11 | CPOX | Zornitza Stark Gene: cpox has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haem degradation and bilirubin metabolism defects v0.11 | CPOX | Zornitza Stark reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Coproporphyria, MIM# 121300, Harderoporphyria, MIM# 618892; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Haem degradation and bilirubin metabolism defects v0.0 | CPOX |
Bryony Thompson gene: CPOX was added gene: CPOX was added to Porphyria_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: CPOX was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: CPOX were set to Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias); Harderoporphyria 121300 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||