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Undiagnosed metabolic disorders v1.530 SETX Sarah Leigh Phenotypes for gene: SETX were changed from Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Amyotrophic lateral sclerosis/motor neuron disease; Charcot-Marie-Tooth disease; Hereditary ataxia to Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002; Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
Undiagnosed metabolic disorders v1.529 SETX Sarah Leigh edited their review of gene: SETX: Changed phenotypes to: Spinocerebellar ataxia, autosomal recessive 1, OMIM:606002, Amyotrophic lateral sclerosis 4, juvenile, OMIM:602433
Undiagnosed metabolic disorders v1.411 SETX Catherine Snow Classified gene: SETX as Green List (high evidence)
Undiagnosed metabolic disorders v1.411 SETX Catherine Snow Gene: setx has been classified as Green List (High Evidence).
Undiagnosed metabolic disorders v1.410 SETX Catherine Snow reviewed gene: SETX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Amyotrophic lateral sclerosis 4, juvenile, 602433, Spinocerebellar ataxia, autosomal recessive, with axonal neuropathy 2, 606002; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Undiagnosed metabolic disorders SETX Sarah Leigh edited their review of SETX
Undiagnosed metabolic disorders SETX Sarah Leigh edited their review of SETX
Undiagnosed metabolic disorders SETX Sarah Leigh edited their review of SETX
Undiagnosed metabolic disorders SETX Sarah Leigh edited their review of SETX
Undiagnosed metabolic disorders SETX Sarah Leigh edited their review of SETX
Undiagnosed metabolic disorders SETX Sarah Leigh edited their review of SETX
Undiagnosed metabolic disorders SETX Sarah Leigh reviewed SETX