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| DDG2P v6.348 | SLC6A17 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC6A17 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SLC6A17 | Achchuthan Shanmugasundram edited their review of gene: SLC6A17: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC6A17-related intellectual developmental disorder are strong, biallelic_autosomal and undetermined (PMID:25704603). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P00656.; Changed phenotypes to: OMIM:616269.0, INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 48, OMIM:616269, SLC6A17-related intellectual developmental disorder, MONDO:0014559 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC6A17 | Achchuthan Shanmugasundram reviewed gene: SLC6A17: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25704603; Phenotypes: INTELLECTUAL DEVELOPMENTAL DISORDER, AUTOSOMAL RECESSIVE 48, OMIM:616269; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC6A17 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC6A17. Mode of pathogenicity for gene SLC6A17 was changed from Other - please provide details in the comments to Other Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | SLC6A17 | Rebecca Foulger reviewed gene: SLC6A17: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SLC6A17 |
Rebecca Foulger gene: SLC6A17 was added gene: SLC6A17 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: SLC6A17 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC6A17 were set to 25704603 Phenotypes for gene: SLC6A17 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48 616269 Mode of pathogenicity for gene: SLC6A17 was set to Other - please provide details in the comments |
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