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| DDG2P v6.67 | ATP6AP2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ATP6AP2 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ATP6AP2 | Achchuthan Shanmugasundram edited their review of gene: ATP6AP2: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ATP6AP2-related intellectual developmental disorder with epilepsy are limited, monoallelic_X_hemizygous and undetermined (PMIDs: 15746149, 26467484, 30985297, 35779466, 38274877). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01458.; Changed publications to: 35779466, 26467484, 38274877, 30985297, 15746149; Changed phenotypes to: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED WITH EPILEPSY, OMIM:300423, ATP6AP2-related intellectual developmental disorder with epilepsy, MONDO:0010319, OMIM:300423.0 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ATP6AP2 | Achchuthan Shanmugasundram reviewed gene: ATP6AP2: Rating: RED; Mode of pathogenicity: Other; Publications: ; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER X-LINKED WITH EPILEPSY, OMIM:300423; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ATP6AP2 | Achchuthan Shanmugasundram Mode of pathogenicity for gene ATP6AP2 was changed from Other - please provide details in the comments to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ATP6AP2 | Rebecca Foulger reviewed gene: ATP6AP2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ATP6AP2 |
Rebecca Foulger gene: ATP6AP2 was added gene: ATP6AP2 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: ATP6AP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: ATP6AP2 were set to MENTAL RETARDATION X-LINKED WITH EPILEPSY 300423 Mode of pathogenicity for gene: ATP6AP2 was set to Other - please provide details in the comments |
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