Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Early-onset Parkinson disease v0.176 POLR3A Zornitza Stark Marked gene: POLR3A as ready
Early-onset Parkinson disease v0.176 POLR3A Zornitza Stark Gene: polr3a has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.176 POLR3A Zornitza Stark Phenotypes for gene: POLR3A were changed from POLR3A Leukoencephalopathy; Parkinsonism; Ocular and dental abnormality; Hypogonadism, OMIM 607694 to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694; POLR3A Leukoencephalopathy; Parkinsonism; Ocular and dental abnormality; Hypogonadism
Early-onset Parkinson disease v0.175 POLR3A Zornitza Stark Classified gene: POLR3A as Green List (high evidence)
Early-onset Parkinson disease v0.175 POLR3A Zornitza Stark Gene: polr3a has been classified as Green List (High Evidence).
Early-onset Parkinson disease v0.174 POLR3A Zornitza Stark reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Early-onset Parkinson disease v0.134 POLR3A SHEKEEB MOHAMMAD gene: POLR3A was added
gene: POLR3A was added to Early-onset Parkinson disease. Sources: Literature
Mode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: POLR3A were set to PMID: 33652360
Phenotypes for gene: POLR3A were set to POLR3A Leukoencephalopathy; Parkinsonism; Ocular and dental abnormality; Hypogonadism, OMIM 607694
Review for gene: POLR3A was set to GREEN
Added comment: Sources: Literature