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| DDG2P v5.43 | CCT8 | Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease CCT8-related neurodevelopmental disorder with brain abnormalities is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level (PMID: ).; to: The DDG2P confidence category for the disease CCT8-related neurodevelopmental disorder with brain abnormalities is limited. The allelic requirement and mutation consequence are monoallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | CCT8 | Achchuthan Shanmugasundram reviewed gene: CCT8: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: CCT8-related neurodevelopmental disorder with brain abnormalities; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.2 | CCT8 |
Achchuthan Shanmugasundram gene: CCT8 was added gene: CCT8 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CCT8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CCT8 were set to CCT8-related neurodevelopmental disorder with brain abnormalities |
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