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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