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Liver Failure_Paediatric v1.19 | AKR1D1 | Zornitza Stark Tag treatable tag was added to gene: AKR1D1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Liver Failure_Paediatric v0.45 | AKR1D1 | Zornitza Stark Publications for gene: AKR1D1 were set to 12970144 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Liver Failure_Paediatric v0.44 | AKR1D1 | Zornitza Stark edited their review of gene: AKR1D1: Changed publications: 12970144, 20522910; Changed phenotypes: Bile acid synthesis defect, congenital, 2, MIM# 235555 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Liver Failure_Paediatric v0.44 | AKR1D1 | Zornitza Stark Marked gene: AKR1D1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Liver Failure_Paediatric v0.44 | AKR1D1 | Zornitza Stark Gene: akr1d1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Liver Failure_Paediatric v0.44 | AKR1D1 | Zornitza Stark Classified gene: AKR1D1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Liver Failure_Paediatric v0.44 | AKR1D1 | Zornitza Stark Gene: akr1d1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Liver Failure_Paediatric v0.43 | AKR1D1 |
Zornitza Stark gene: AKR1D1 was added gene: AKR1D1 was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AKR1D1 were set to 12970144 Phenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2, MIM# 235555 Review for gene: AKR1D1 was set to GREEN Added comment: Severe intrahepatic cholestasis progressing to liver failure. More than 3 unrelated families reported. Sources: Expert list |