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Non-acute porphyrias v1.12 | CPOX | Sarah Leigh Deleted their comment | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-acute porphyrias v1.12 | CPOX | Sarah Leigh Phenotypes for gene: CPOX were changed from Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias) to Harderoporphyria OMIM:618892; harderoporphyria MONDO:0030048; Coproporphyria OMIM:121300; hereditary coproporphyria MONDO:0007369 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-acute porphyrias v1.11 | CPOX | Sarah Leigh Added comment: Comment on phenotypes: Harderoporphyria OMIM:618892;harderoporphyria MONDO:0030048;Coproporphyria OMIM:121300;hereditary coproporphyria MONDO:0007369 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-acute porphyrias v1.11 | CPOX | Sarah Leigh Phenotypes for gene: CPOX were changed from Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias) to Harderoporphyria 121300; Coproporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-acute porphyrias v1.10 | CPOX | Sarah Leigh Publications for gene: CPOX were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-acute porphyrias v0.11 | CPOX | Ivone Leong Marked gene: CPOX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-acute porphyrias v0.11 | CPOX | 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 | CPOX | Ivone Leong Gene: cpox has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-acute porphyrias v0.7 | CPOX |
Ivone Leong Source Other was added to CPOX. Mode of inheritance for gene CPOX was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Added phenotypes Harderoporphyria 121300; Hereditary coproporphyria (Acute neuropathic porphyrias); Coproporphyria 121300 for gene: CPOX Publications for gene CPOX were changed from to 27604308 |
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Non-acute porphyrias v0.4 | CPOX |
Ivone Leong Source Expert Review Green was added to CPOX. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Non-acute porphyrias v0.3 | CPOX | Ivone Leong reviewed gene: CPOX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-acute porphyrias v0.2 | CPOX |
Ivone Leong gene: CPOX was added gene: CPOX was added to Non-acute porphyrias. Sources: NHS GMS Mode of inheritance for gene: CPOX was set to |