Activity
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| DDG2P v6.340 | SLC12A9 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC12A9 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SLC12A9 | Achchuthan Shanmugasundram edited their review of gene: SLC12A9: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects are moderate, biallelic_autosomal and loss of function (PMID:38334070). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03558.; Changed phenotypes to: SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects, MONDO:0100038 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.48 | SLC12A9 | Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: SLC12A9. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.3 | SLC12A9 | Achchuthan Shanmugasundram reviewed gene: SLC12A9: Rating: GREEN; Mode of pathogenicity: Other; Publications: 38334070; Phenotypes: SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v5.2 | SLC12A9 |
Achchuthan Shanmugasundram gene: SLC12A9 was added gene: SLC12A9 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SLC12A9 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC12A9 were set to 38334070 Phenotypes for gene: SLC12A9 were set to SLC12A9-related syndromic neurodevelopmental disorder with lysosome defects Mode of pathogenicity for gene: SLC12A9 was set to Other |
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