Activity

Filter

Cancel
Date Panel Item Activity
10 actions
Primary ovarian insufficiency v1.47 HARS2 Ivone Leong Classified gene: HARS2 as Green List (high evidence)
Primary ovarian insufficiency v1.47 HARS2 Ivone Leong Added comment: Comment on list classification: Promoted from Amber to Green. This gene is associated with a relevant phenotype in OMIM but not Gene2Phenotype. There is now enough evidence to support a gene-disease association. Therefore this gene has been promoted to Green.
Primary ovarian insufficiency v1.47 HARS2 Ivone Leong Gene: hars2 has been classified as Green List (High Evidence).
Primary ovarian insufficiency v1.46 HARS2 Ivone Leong Phenotypes for gene: HARS2 were changed from Perrault syndrome 2, 614926 to Perrault syndrome 2, OMIM:614926
Primary ovarian insufficiency v1.45 HARS2 Ivone Leong Publications for gene: HARS2 were set to 21464306
Primary ovarian insufficiency v1.44 HARS2 Bill Newman reviewed gene: HARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: (PMID:34406847, 34338890); Phenotypes: sensorineural hearing loss, primary ovarian insufficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Primary ovarian insufficiency HARS2 Arianna Tucci marked HARS2 as ready
Primary ovarian insufficiency HARS2 Arianna Tucci classified HARS2 as amber
Primary ovarian insufficiency HARS2 Arianna Tucci added HARS2 to panel
Primary ovarian insufficiency HARS2 Arianna Tucci reviewed HARS2