Activity

Filter

Cancel
Date Panel Item Activity
3 actions
Fetal anomalies v0.9 LIPT2 Rebecca Foulger commented on gene: LIPT2: DDG2P rating in original PAGE list: Probable for Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy
Fetal anomalies v0.3 LIPT2 Rebecca Foulger reviewed gene: LIPT2: Rating: AMBER; Mode of pathogenicity: Other - please provide details in the comments; Publications: ; Phenotypes: ; Mode of inheritance:
Fetal anomalies v0.1 LIPT2 Rebecca Foulger gene: LIPT2 was added
gene: LIPT2 was added to Fetal anomalies. Sources: PAGE DD-Gene2Phenotype,Expert Review Amber
Mode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LIPT2 were set to Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy