| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Liver Failure_Paediatric v0.73 | POLG2 | Zornitza Stark Marked gene: POLG2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.73 | POLG2 | Zornitza Stark Gene: polg2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.73 | POLG2 | Zornitza Stark Classified gene: POLG2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.73 | POLG2 | Zornitza Stark Gene: polg2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.72 | POLG2 |
Zornitza Stark gene: POLG2 was added gene: POLG2 was added to Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: POLG2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: POLG2 were set to 27592148; 30157269; 21555342 Phenotypes for gene: POLG2 were set to Mitochondrial DNA depletion syndrome 16 (hepatic type), MIM# 618528; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant, MIM# 4 610131 Review for gene: POLG2 was set to AMBER Added comment: Single family reported with bi-allelic variants in POLG2 and severe neonatal hepatic failure, some functional data to support variant pathogenicity. Note mono-allelic variants in this gene are associated with PEO phenotype, but onset and severity are highly variable including reports of childhood manifestations with liver dysfunction. Sources: Expert list |
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| Liver Failure_Paediatric v0.10 | POLG | Zornitza Stark Marked gene: POLG as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.10 | POLG | Zornitza Stark Gene: polg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.10 | POLG | Zornitza Stark Classified gene: POLG as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.10 | POLG | Zornitza Stark Gene: polg has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Liver Failure_Paediatric v0.9 | POLG |
Zornitza Stark gene: POLG was added gene: POLG was added to Acute Liver Failure_Paediatric. Sources: Expert list Mode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLG were set to 20220442 Phenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700 Review for gene: POLG was set to GREEN Added comment: Well established gene-disease association. Alpers syndrome is an autosomal recessive disorder characterized by a clinical triad of psychomotor retardation, intractable epilepsy, and liver failure in infants and young children. Pathologic findings include neuronal loss in the cerebral gray matter with reactive astrocytosis and liver cirrhosis. The disorder is progressive and often leads to death from hepatic failure or status epilepticus before age 3 years. Sources: Expert list |
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