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| DDG2P v6.345 | SLC31A1 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC31A1 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SLC31A1 | Achchuthan Shanmugasundram edited their review of gene: SLC31A1: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC31A1-related congenital copper transport disorder are moderate, biallelic_autosomal and undetermined (PMIDs: 21937992, 35913762, 36562171). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P01558.; Changed publications to: 21937992, 36562171, 35913762; Changed phenotypes to: SLC31A1-associated congenital copper transport disorder, OMIM:620306.0, MONDO:0957211, SLC31A1-related congenital copper transport disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC31A1 | Achchuthan Shanmugasundram reviewed gene: SLC31A1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 21937992, 35913762, 36562171; Phenotypes: SLC31A1-associated congenital copper transport disorder; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC31A1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to SLC31A1. Mode of pathogenicity for gene SLC31A1 was changed from Other - please provide details in the comments to Other Publications for gene: SLC31A1 were updated from 21937992 to 21937992; 35913762; 36562171 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v0.2 | SLC31A1 | Rebecca Foulger reviewed gene: SLC31A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SLC31A1 |
Rebecca Foulger gene: SLC31A1 was added gene: SLC31A1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC31A1 were set to 21937992 Phenotypes for gene: SLC31A1 were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION Mode of pathogenicity for gene: SLC31A1 was set to Other - please provide details in the comments |
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