| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Liver Failure_Paediatric v0.55 | NR1H4 | Zornitza Stark Marked gene: NR1H4 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.55 | NR1H4 | Zornitza Stark Gene: nr1h4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.55 | NR1H4 | Zornitza Stark Classified gene: NR1H4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.55 | NR1H4 | Zornitza Stark Gene: nr1h4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.54 | NR1H4 |
Zornitza Stark gene: NR1H4 was added gene: NR1H4 was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: NR1H4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NR1H4 were set to 26888176; 32443034 Phenotypes for gene: NR1H4 were set to Cholestasis, progressive familial intrahepatic, 5, MIM# 617049 Review for gene: NR1H4 was set to GREEN Added comment: Autosomal recessive severe liver disorder characterized by onset of intralobular cholestasis in the neonatal period. The disease is rapidly progressive, leading to liver failure and death if liver transplant is not performed. Other features include abnormal liver enzymes, low to normal gamma-glutamyl transferase (GGT) activity, increased alpha-fetoprotein, and a vitamin K-independent coagulopathy. At least 5 unrelated families reported. Sources: Expert list |
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