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| Metal Metabolism Disorders v0.47 | SLC31A1 | Zornitza Stark edited their review of gene: SLC31A1: Changed phenotypes: Neurodegeneration and seizures due to copper transport defect, MIM# 620306; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.47 | SLC31A1 | Zornitza Stark Marked gene: SLC31A1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.47 | SLC31A1 | Zornitza Stark Gene: slc31a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.47 | SLC31A1 | Zornitza Stark Phenotypes for gene: SLC31A1 were changed from congenital copper transport defect; seizures; neurodegeneration to Neurodegeneration and seizures due to copper transport defect, MIM# 620306 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.46 | SLC31A1 | Zornitza Stark Classified gene: SLC31A1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.46 | SLC31A1 | Zornitza Stark Gene: slc31a1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.45 | SLC31A1 | Zornitza Stark reviewed gene: SLC31A1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Metal Metabolism Disorders v0.45 | SLC31A1 |
Himanshu Goel gene: SLC31A1 was added gene: SLC31A1 was added to Metal Metabolism Disorders. Sources: Literature Mode of inheritance for gene: SLC31A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SLC31A1 were set to 35913762, 36562171 Phenotypes for gene: SLC31A1 were set to congenital copper transport defect; seizures; neurodegeneration Penetrance for gene: SLC31A1 were set to Complete Review for gene: SLC31A1 was set to GREEN gene: SLC31A1 was marked as current diagnostic Added comment: Sources: Literature |
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