Activity
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4 actions
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| DDG2P v6.30 | ADCY5 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: ADCY5 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | ADCY5 | Achchuthan Shanmugasundram edited their review of gene: ADCY5: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for ADCY5-related developmental disorder are strong, monoallelic_autosomal and undetermined. More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02885.; Changed phenotypes to: ADCY5-related developmental disorder, MONDO:0700092, ADCY5-related developmental disorder (monoallelic) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ADCY5 | Achchuthan Shanmugasundram reviewed gene: ADCY5: Rating: GREEN; Mode of pathogenicity: Other; Publications: ; Phenotypes: ADCY5-related developmental disorder (monoallelic); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ADCY5 |
Achchuthan Shanmugasundram gene: ADCY5 was added gene: ADCY5 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ADCY5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ADCY5 were set to ADCY5-related developmental disorder (monoallelic) Mode of pathogenicity for gene: ADCY5 was set to Other |
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