Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Mitochondrial disorders v1.191 PUS1 Sarah Leigh Classified gene: PUS1 as Green List (high evidence)
Mitochondrial disorders v1.191 PUS1 Sarah Leigh Added comment: Comment on list classification: Associated with relevant phenotype in OMIM, but not associated with phenotype in Gen2Phen. At least 6 variants reported in 5 unrelated cases.
Mitochondrial disorders v1.191 PUS1 Sarah Leigh Gene: pus1 has been classified as Green List (High Evidence).
Mitochondrial disorders v1.190 PUS1 Sarah Leigh Mode of inheritance for gene: PUS1 was changed from to BIALLELIC, autosomal or pseudoautosomal
Mitochondrial disorders v1.189 PUS1 Sarah Leigh Publications for gene: PUS1 were set to
Mitochondrial disorders PUS1 Zornitza Stark reviewed gene: PUS1