Activity
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6 actions
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| DDG2P v5.3 | PLA2G16 | Achchuthan Shanmugasundram reviewed gene: PLA2G16: Rating: RED; Mode of pathogenicity: ; Publications: 37919452; Phenotypes: PLAAT3-related lipodystrophy syndrome with neurological features, OMIM:620683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.2 | PLA2G16 |
Achchuthan Shanmugasundram gene: PLA2G16 was added gene: PLA2G16 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: PLA2G16 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLA2G16 were set to 37919452 Phenotypes for gene: PLA2G16 were set to PLAAT3-related lipodystrophy syndrome with neurological features, OMIM:620683 |
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| DDG2P v3.12 | PLAA | Achchuthan Shanmugasundram reviewed gene: PLAA: Rating: GREEN; Mode of pathogenicity: ; Publications: 28413018; Phenotypes: Lethal Infantile Epileptic Encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PLAA |
Achchuthan Shanmugasundram Source Expert Review Green was added to PLAA. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | PLAA | Rebecca Foulger reviewed gene: PLAA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PLAA |
Rebecca Foulger gene: PLAA was added gene: PLAA was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PLAA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PLAA were set to 28413018 Phenotypes for gene: PLAA were set to Lethal Infantile Epileptic Encephalopathy |
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