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| DDG2P v3.12 | LIPT2 | Achchuthan Shanmugasundram reviewed gene: LIPT2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28757203; Phenotypes: Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | LIPT2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to LIPT2. Mode of pathogenicity for gene LIPT2 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | LIPT2 | Rebecca Foulger reviewed gene: LIPT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | LIPT2 |
Rebecca Foulger gene: LIPT2 was added gene: LIPT2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: LIPT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LIPT2 were set to 28757203 Phenotypes for gene: LIPT2 were set to Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy Mode of pathogenicity for gene: LIPT2 was set to Other - please provide details in the comments |
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