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| Non-acute porphyrias v1.15 | HMBS | Sarah Leigh Publications for gene: HMBS were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-acute porphyrias v1.14 | HMBS | Sarah Leigh Phenotypes for gene: HMBS were changed from Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, nonerythroid variant, 176000; Porphyria, acute intermittent, 176000 to Porphyria, acute intermittent, nonerythroid variant OMIM:176000; Porphyria, acute intermittent OMIM:176000; acute intermittent porphyria MONDO:0008294 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-acute porphyrias v0.11 | HMBS | Ivone Leong Marked gene: HMBS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-acute porphyrias v0.11 | HMBS | 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 | HMBS | Ivone Leong Gene: hmbs has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-acute porphyrias v0.7 | HMBS |
Ivone Leong Source Other was added to HMBS. Mode of inheritance for gene HMBS was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Porphyria, acute intermittent, nonerythroid variant, 176000; Acute intermittent porphyria (Acute neuropathic porphyrias); Porphyria, acute intermittent, 176000 for gene: HMBS Publications for gene HMBS were changed from to 27604308 |
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| Non-acute porphyrias v0.4 | HMBS |
Ivone Leong Source Expert Review Green was added to HMBS. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Non-acute porphyrias v0.3 | HMBS | Ivone Leong reviewed gene: HMBS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-acute porphyrias v0.2 | HMBS |
Ivone Leong gene: HMBS was added gene: HMBS was added to Non-acute porphyrias. Sources: NHS GMS Mode of inheritance for gene: HMBS was set to |
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