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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