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| Non-acute porphyrias v1.8 | ALAD | Sarah Leigh Publications for gene: ALAD were set to 27604308 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-acute porphyrias v1.7 | ALAD | Sarah Leigh Phenotypes for gene: ALAD were changed from Porphyria, acute hepatic 612740; {Lead poisoning, susceptibility to} 612740; Acute hepatic porphyria (Acute neuropathic porphyrias) to Porphyria, acute hepatic OMIM:612740; porphyria due to ALA dehydratase deficiency MONDO:0013000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-acute porphyrias v0.11 | ALAD | Ivone Leong Marked gene: ALAD as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-acute porphyrias v0.11 | ALAD | 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 | ALAD | Ivone Leong Gene: alad has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-acute porphyrias v0.7 | ALAD |
Ivone Leong Source Other was added to ALAD. Mode of inheritance for gene ALAD was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Porphyria, acute hepatic 612740; {Lead poisoning, susceptibility to} 612740; Acute hepatic porphyria (Acute neuropathic porphyrias) for gene: ALAD Publications for gene ALAD were changed from to 27604308 |
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| Non-acute porphyrias v0.4 | ALAD |
Ivone Leong Source Expert Review Green was added to ALAD. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Non-acute porphyrias v0.3 | ALAD | Ivone Leong reviewed gene: ALAD: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Non-acute porphyrias v0.2 | ALAD |
Ivone Leong gene: ALAD was added gene: ALAD was added to Non-acute porphyrias. Sources: NHS GMS Mode of inheritance for gene: ALAD was set to |
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