Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Intellectual disability syndromic and non-syndromic v0.4634 NUBPL Zornitza Stark Marked gene: NUBPL as ready
Intellectual disability syndromic and non-syndromic v0.4634 NUBPL Zornitza Stark Gene: nubpl has been classified as Green List (High Evidence).
Intellectual disability syndromic and non-syndromic v0.4634 NUBPL Zornitza Stark Phenotypes for gene: NUBPL were changed from to Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242
Intellectual disability syndromic and non-syndromic v0.4633 NUBPL Zornitza Stark Publications for gene: NUBPL were set to
Intellectual disability syndromic and non-syndromic v0.4632 NUBPL Zornitza Stark Mode of inheritance for gene: NUBPL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.4621 NUBPL Krithika Murali reviewed gene: NUBPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 20818383, 32518176, 23553477, 31917109, 32518176, 31787496, 30897263, 22826544; Phenotypes: Mitochondrial complex I deficiency, nuclear type 21 - MIM#618242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Intellectual disability syndromic and non-syndromic v0.0 NUBPL Zornitza Stark gene: NUBPL was added
gene: NUBPL was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland
Mode of inheritance for gene: NUBPL was set to Unknown