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| DDG2P v3.12 | CCDC78 | Achchuthan Shanmugasundram reviewed gene: CCDC78: Rating: GREEN; Mode of pathogenicity: ; Publications: 22818856; Phenotypes: CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES, OMIM:614807; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CCDC78 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CCDC78. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | CCDC78 | Rebecca Foulger reviewed gene: CCDC78: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CCDC78 |
Rebecca Foulger gene: CCDC78 was added gene: CCDC78 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: CCDC78 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CCDC78 were set to 22818856 Phenotypes for gene: CCDC78 were set to CONGENITAL MYOPATHY WITH PROMINENT INTERNAL NUCLEI AND ATYPICAL CORES 614807 |
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