Activity
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7 actions
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| Cholestasis v0.21 | BAAT | Ivone Leong Marked gene: BAAT as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.21 | BAAT | 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 | BAAT | Ivone Leong Gene: baat has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.10 | BAAT |
Ivone Leong Source Other was added to BAAT. Mode of inheritance for gene BAAT was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hypercholanemia, Familial; Hypercholanemia, familial, 607748; fat soluble vitamin deficiency; Neonatal and Adult Cholestasis; cholestasis for gene: BAAT Publications for gene BAAT were changed from to 23415802; 12704386 |
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| Cholestasis v0.4 | BAAT |
Ivone Leong Source Expert Review Green was added to BAAT. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cholestasis v0.3 | BAAT | Ivone Leong reviewed gene: BAAT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.2 | BAAT |
Ivone Leong gene: BAAT was added gene: BAAT was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: BAAT was set to |
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