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Fetal anomalies v0.9 LIPT1 Rebecca Foulger commented on gene: LIPT1: DDG2P rating in original PAGE list: Probable for Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.
Fetal anomalies v0.3 LIPT1 Rebecca Foulger reviewed gene: LIPT1: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 LIPT1 Rebecca Foulger gene: LIPT1 was added
gene: LIPT1 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LIPT1 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPT1 were set to Leigh syndrome with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase.