| 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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