Activity
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8 actions
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| Cholestasis v0.21 | AMACR | Ivone Leong Marked gene: AMACR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.21 | AMACR | 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.21 | AMACR | Ivone Leong Gene: amacr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.21 | AMACR | Ivone Leong commented on gene: AMACR: Miranda Durkie (Sheffield Diagnostic Genetics Service) discussed with Simon Olpin (Sheffield Children's NHS Foundation Trust) about the inclusion of AMARC on this panel. He recommends that the gene remains as a green gene on the panel and that he has diagnosed 3 cases of AMARC deficiency in the clinic. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.10 | AMACR |
Ivone Leong Source Other was added to AMACR. Mode of inheritance for gene AMACR was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Neonatal and Adult Cholestasis; Bile acid synthesis defect, congenital, 4 214950 for gene: AMACR Publications for gene AMACR were changed from to 12512044; 10655068 |
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| Cholestasis v0.4 | AMACR |
Ivone Leong Source Expert Review Green was added to AMACR. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cholestasis v0.3 | AMACR | Ivone Leong reviewed gene: AMACR: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.2 | AMACR |
Ivone Leong gene: AMACR was added gene: AMACR was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: AMACR was set to |
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