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| 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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