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Non-acute porphyrias v1.20 | UROS | Sarah Leigh Phenotypes for gene: UROS were changed from Porphyria, congenital erythropoietic 263700; Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis) to Porphyria, congenital erythropoietic OMIM:263700; cutaneous porphyria MONDO:0009902 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-acute porphyrias v1.19 | UROS | Sarah Leigh Publications for gene: UROS were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-acute porphyrias v0.11 | UROS | Ivone Leong Marked gene: UROS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-acute porphyrias v0.11 | UROS | 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 | UROS | Ivone Leong Gene: uros has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-acute porphyrias v0.7 | UROS |
Ivone Leong Source Other was added to UROS. Mode of inheritance for gene UROS was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Porphyria, congenital erythropoietic 263700; Congenital erythropoietic porphyria (Porphyrias with erosive photodermatosis) for gene: UROS Publications for gene UROS were changed from to 27604308 |
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Non-acute porphyrias v0.4 | UROS |
Ivone Leong Source Expert Review Green was added to UROS. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Non-acute porphyrias v0.3 | UROS | Ivone Leong reviewed gene: UROS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Non-acute porphyrias v0.2 | UROS |
Ivone Leong gene: UROS was added gene: UROS was added to Non-acute porphyrias. Sources: NHS GMS Mode of inheritance for gene: UROS was set to |