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| DDG2P v3.12 | NACC1 | Achchuthan Shanmugasundram reviewed gene: NACC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 28132692; Phenotypes: Infantile Epilepsy, Cataracts, and Profound Developmental Delay; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NACC1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene NACC1 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | NACC1 | Rebecca Foulger reviewed gene: NACC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | NACC1 |
Rebecca Foulger gene: NACC1 was added gene: NACC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: NACC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: NACC1 were set to 28132692 Phenotypes for gene: NACC1 were set to Infantile Epilepsy, Cataracts, and Profound Developmental Delay Mode of pathogenicity for gene: NACC1 was set to Other - please provide details in the comments |
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