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| Cholestasis v0.21 | AKR1D1 | Ivone Leong Marked gene: AKR1D1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.21 | AKR1D1 | 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 | AKR1D1 | Ivone Leong Gene: akr1d1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.10 | AKR1D1 |
Ivone Leong Source Other was added to AKR1D1. Mode of inheritance for gene AKR1D1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Bile acid synthesis defect, congenital, 2 235555; fat soluble vitamin deficiency; liver failure; bile salt synthesis defect; Bile acid synthesis defect, congenital, 2; Neonatal and Adult Cholestasis; cholestasis for gene: AKR1D1 |
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| Cholestasis v0.4 | AKR1D1 |
Ivone Leong Source Expert Review Green was added to AKR1D1. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| Cholestasis v0.3 | AKR1D1 | Ivone Leong reviewed gene: AKR1D1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Cholestasis v0.2 | AKR1D1 |
Ivone Leong gene: AKR1D1 was added gene: AKR1D1 was added to Cholestasis. Sources: NHS GMS Mode of inheritance for gene: AKR1D1 was set to |
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