Activity
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5 actions
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| Liver Failure_Paediatric v0.25 | TRMU | Zornitza Stark Marked gene: TRMU as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.25 | TRMU | Zornitza Stark Gene: trmu has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.25 | TRMU | Zornitza Stark Classified gene: TRMU as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.25 | TRMU | Zornitza Stark Gene: trmu has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.24 | TRMU |
Zornitza Stark gene: TRMU was added gene: TRMU was added to Acute Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRMU were set to 19732863 Phenotypes for gene: TRMU were set to Liver failure, transient infantile, MIM# 613070 Review for gene: TRMU was set to GREEN Added comment: Acute infantile liver failure resulting from variants in TRMU is a transient disorder of hepatic function. In addition to elevated liver enzymes, jaundice, vomiting, coagulopathy, and hyperbilirubinemia, the presence of increased serum lactate is consistent with a defect in mitochondrial respiratory function. With supportive care, patients who survive the initial acute episode can recover and show normal development. Thirteen individuals reported, including 7 of Yemenite Jewish origin with same recurrent founder variant, p.Tyr77His. Sources: Expert list |
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