| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Liver Failure_Paediatric v1.19 | FAH | Zornitza Stark Tag treatable tag was added to gene: FAH. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.4 | FAH | Zornitza Stark Marked gene: FAH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.4 | FAH | Zornitza Stark Gene: fah has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.4 | FAH | Zornitza Stark Classified gene: FAH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.4 | FAH | Zornitza Stark Gene: fah has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.3 | FAH |
Zornitza Stark gene: FAH was added gene: FAH was added to Acute Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAH were set to 15759101 Phenotypes for gene: FAH were set to Tyrosinemia, type I, MIM#276700 Review for gene: FAH was set to GREEN Added comment: Well established gene-disease association. The disorder is characterized by progressive liver disease and a secondary renal tubular dysfunction leading to hypophosphatemic rickets. Onset varies from infancy to adolescence. In the most acute form patients present with severe liver failure within weeks after birth, whereas rickets may be the major symptom in chronic tyrosinemia. Untreated, death ensues from cirrhosis or hepatocellular carcinoma at a young age. Sources: Expert list |
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