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| DDG2P v3.12 | C1QBP | Achchuthan Shanmugasundram reviewed gene: C1QBP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28942965; Phenotypes: Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | C1QBP |
Achchuthan Shanmugasundram Source Expert Review Green was added to C1QBP. Mode of pathogenicity for gene C1QBP 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 | C1QBP | Rebecca Foulger reviewed gene: C1QBP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | C1QBP |
Rebecca Foulger gene: C1QBP was added gene: C1QBP was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: C1QBP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: C1QBP were set to 28942965 Phenotypes for gene: C1QBP were set to Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain Deficiencies Mode of pathogenicity for gene: C1QBP was set to Other - please provide details in the comments |
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