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Likely inborn error of metabolism - targeted testing not possible v1.76 PNPLA8 Sarah Leigh Source Expert Review Green was added to PNPLA8.
Mode of inheritance for gene PNPLA8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes ?Mitochondrial myopathy with lactic acidosis, 251950 for gene: PNPLA8
Publications for gene PNPLA8 were changed from to 25473036; 25512002; 29681094
Rating Changed from Red List (low evidence) to Green List (high evidence)
Likely inborn error of metabolism - targeted testing not possible v0.4 PNPLA8 Ellen McDonagh gene: PNPLA8 was added
gene: PNPLA8 was added to Inborn errors of metabolism. Sources: Expert Review Red
Mode of inheritance for gene: PNPLA8 was set to Unknown