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Cardiomyopathy_Paediatric v1.63 POPDC2 Rylee Peters Marked gene: POPDC2 as ready
Cardiomyopathy_Paediatric v1.63 POPDC2 Rylee Peters Gene: popdc2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.63 POPDC2 Rylee Peters Classified gene: POPDC2 as Amber List (moderate evidence)
Cardiomyopathy_Paediatric v1.63 POPDC2 Rylee Peters Gene: popdc2 has been classified as Amber List (Moderate Evidence).
Cardiomyopathy_Paediatric v1.62 POPDC2 Rylee Peters gene: POPDC2 was added
gene: POPDC2 was added to Cardiomyopathy_Paediatric. Sources: Literature
Mode of inheritance for gene: POPDC2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POPDC2 were set to 41456958; 40409267
Phenotypes for gene: POPDC2 were set to Cardiac conduction disease with or without cardiomyopathy 2, MIM# 621367
Review for gene: POPDC2 was set to AMBER
Added comment: Multiple families reported with cardiac conduction and hypertrophic cardiomyopathy (rated GREEN).
AMBER rating given to this panel as there are only 2 reports of paediatric onset of HCM and cardiac conduction disorder (PMIDs: 41456958, 40409267).
Sources: Literature