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| Non-acute porphyrias v1.16 | PPOX | Sarah Leigh Phenotypes for gene: PPOX were changed from Variegate porphyria (Acute neuropathic porphyrias); Porphyria variegata 176200 to Porphyria variegata OMIM:176200; variegate porphyria MONDO:0008297 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-acute porphyrias v0.11 | PPOX | Ivone Leong Marked gene: PPOX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-acute porphyrias v0.11 | PPOX | Ivone Leong Added comment: Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-acute porphyrias v0.11 | PPOX | Ivone Leong Gene: ppox has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-acute porphyrias v0.7 | PPOX |
Ivone Leong Source Other was added to PPOX. Mode of inheritance for gene PPOX was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Variegate porphyria (Acute neuropathic porphyrias); Porphyria variegata 176200 for gene: PPOX Publications for gene PPOX were changed from to 27604308; 19460837; 9811936 |
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| Non-acute porphyrias v0.4 | PPOX |
Ivone Leong Source Expert Review Green was added to PPOX. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Non-acute porphyrias v0.3 | PPOX | Ivone Leong reviewed gene: PPOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-acute porphyrias v0.2 | PPOX |
Ivone Leong gene: PPOX was added gene: PPOX was added to Non-acute porphyrias. Sources: NHS GMS Mode of inheritance for gene: PPOX was set to |
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