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| DDG2P v3.12 | AP3B2 | Achchuthan Shanmugasundram reviewed gene: AP3B2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27889060; Phenotypes: Epileptic Encephalopathy with Optic Atrophy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | AP3B2 |
Achchuthan Shanmugasundram Source Expert Review Green was added to AP3B2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | AP3B2 | Rebecca Foulger reviewed gene: AP3B2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | AP3B2 |
Rebecca Foulger gene: AP3B2 was added gene: AP3B2 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: AP3B2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: AP3B2 were set to 27889060 Phenotypes for gene: AP3B2 were set to Epileptic Encephalopathy with Optic Atrophy |
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