| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Liver Failure_Paediatric v1.19 | HADHA | Zornitza Stark Tag treatable tag was added to gene: HADHA. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.90 | HADHA | Zornitza Stark Marked gene: HADHA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.90 | HADHA | Zornitza Stark Gene: hadha has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.90 | HADHA | Zornitza Stark Classified gene: HADHA as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.90 | HADHA | Zornitza Stark Gene: hadha has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.89 | HADHA |
Zornitza Stark gene: HADHA was added gene: HADHA was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: HADHA were set to Mitochondrial trifunctional protein deficiency, MIM# 609015 Review for gene: HADHA was set to GREEN Added comment: Trifunctional protein deficiency can be classified into 3 main clinical phenotypes: neonatal onset of a severe, lethal condition resulting in sudden unexplained infant death, infantile onset of a hepatic Reye-like syndrome, and late-adolescent onset of primarily a skeletal myopathy. Sources: Expert list |
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