| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hyperinsulinism v1.48 | FAH | Zornitza Stark Marked gene: FAH as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v1.48 | FAH | Zornitza Stark Gene: fah has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v1.38 | FAH | Chirag Patel Classified gene: FAH as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v1.38 | FAH | Chirag Patel Gene: fah has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hyperinsulinism v1.37 | FAH |
Chirag Patel gene: FAH was added gene: FAH was added to Hyperinsulinism. Sources: Literature Mode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAH were set to PMID: 15877201 Phenotypes for gene: FAH were set to Tyrosinemia type I MONDO:0010161 Review for gene: FAH was set to GREEN Added comment: Well established gene-disease association. PMID: 15877201 reported 3 individuals with Tyrosinaemia type I and acute liver dysfunction. Hyperinsulinemic hypoglycemia was seen in early infancy and all were successfully treated with diazoxide and chlorthiazide, with treatment gradually withdrawn. The mechanism of pancreatic dysfunction is unknown but may be related to accumulation of toxic metabolites. Sources: Literature |
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