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| DDG2P v3.12 | PDE6H | Achchuthan Shanmugasundram reviewed gene: PDE6H: Rating: GREEN; Mode of pathogenicity: ; Publications: 27472364, 22901948, 15629837; Phenotypes: ACHROMATOPSIA, RETINAL CONE DYSTROPHY 3 PDE6H, OMIM:610024; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PDE6H |
Achchuthan Shanmugasundram Source Expert Review Green was added to PDE6H. Publications for gene: PDE6H were updated from 15629837; 22901948 to 27472364; 22901948; 15629837 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | PDE6H | Rebecca Foulger reviewed gene: PDE6H: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PDE6H |
Rebecca Foulger Added phenotypes RETINAL CONE DYSTROPHY 3 PDE6H 610024 for gene: PDE6H Publications for gene PDE6H were changed from to 15629837; 22901948 |
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| DDG2P v0.1 | PDE6H |
Rebecca Foulger gene: PDE6H was added gene: PDE6H was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: PDE6H was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: PDE6H were set to ACHROMATOPSIA |
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