Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
Liver Failure_Paediatric v0.94 | AMACR |
Zornitza Stark changed review comment from: Intrahepatic cholestasis and liver failure in infancy. Sources: Expert list; to: Intrahepatic cholestasis and liver failure in infancy, at least three families and mouse model. Sources: Expert list |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Liver Failure_Paediatric v0.94 | AMACR | Zornitza Stark Marked gene: AMACR as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Liver Failure_Paediatric v0.94 | AMACR | Zornitza Stark Gene: amacr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Liver Failure_Paediatric v0.94 | AMACR | Zornitza Stark Classified gene: AMACR as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Liver Failure_Paediatric v0.94 | AMACR | Zornitza Stark Gene: amacr has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Liver Failure_Paediatric v0.93 | AMACR |
Zornitza Stark gene: AMACR was added gene: AMACR was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: AMACR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AMACR were set to 31951345; 24735479; 12512044; 10655068 Phenotypes for gene: AMACR were set to Bile acid synthesis defect, congenital, 4, MIM# 214950 Review for gene: AMACR was set to GREEN Added comment: Intrahepatic cholestasis and liver failure in infancy. Sources: Expert list |