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| Liver Failure_Paediatric v1.19 | CPT2 | Zornitza Stark Tag treatable tag was added to gene: CPT2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.106 | CPT2 | Zornitza Stark Marked gene: CPT2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.106 | CPT2 | Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.106 | CPT2 | Zornitza Stark Classified gene: CPT2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.106 | CPT2 | Zornitza Stark Gene: cpt2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.105 | CPT2 |
Zornitza Stark gene: CPT2 was added gene: CPT2 was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CPT2 were set to 8651281; 1528846; 12410208 Phenotypes for gene: CPT2 were set to CPT II deficiency, infantile, MIM# 600649 Review for gene: CPT2 was set to GREEN Added comment: The infantile form usually presents between 6 and 24 months of age with recurrent attacks of hypoketotic hypoglycemia causing loss of consciousness and seizures, liver failure, and transient hepatomegaly. Some children also have heart involvement with cardiomyopathy and arrhythmia. Episodes are triggered by infections, fever, or fasting. Sources: Expert list |
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