|
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
|