| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Liver Failure_Paediatric v0.114 | NOTCH2 | Zornitza Stark Marked gene: NOTCH2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.114 | NOTCH2 | Zornitza Stark Gene: notch2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.114 | NOTCH2 | Zornitza Stark Classified gene: NOTCH2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.114 | NOTCH2 | Zornitza Stark Gene: notch2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.113 | NOTCH2 |
Zornitza Stark gene: NOTCH2 was added gene: NOTCH2 was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: NOTCH2 were set to Alagille syndrome 2, MIM# 610205 Review for gene: NOTCH2 was set to GREEN Added comment: Well established gene-disease association. Sources: Expert list |
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| Liver Failure_Paediatric v0.17 | OTC | Zornitza Stark Marked gene: OTC as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.17 | OTC | Zornitza Stark Gene: otc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.17 | OTC | Zornitza Stark Classified gene: OTC as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.17 | OTC | Zornitza Stark Gene: otc has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.16 | OTC |
Zornitza Stark gene: OTC was added gene: OTC was added to Acute Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: OTC were set to 28887792; 25902754 Phenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, MIM# 311250 Review for gene: OTC was set to GREEN Added comment: Well established gene disease association. Reports of presentations with liver failure. Sources: Expert list |
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