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Likely inborn error of metabolism - targeted testing not possible v1.76 | LIPT2 |
Sarah Leigh Source Expert Review Green was added to LIPT2. Added phenotypes Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, 617668 for gene: LIPT2 Publications for gene LIPT2 were changed from to 28803783; 28757203 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Likely inborn error of metabolism - targeted testing not possible v0.4 | LIPT2 |
Ellen McDonagh gene: LIPT2 was added gene: LIPT2 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal |