Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Fetal anomalies v0.3825 MPV17 Zornitza Stark Marked gene: MPV17 as ready
Fetal anomalies v0.3825 MPV17 Zornitza Stark Gene: mpv17 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3825 MPV17 Zornitza Stark Phenotypes for gene: MPV17 were changed from MITOCHONDRIAL DNA DEPLETION SYNDROME 6 to Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM #256810
Fetal anomalies v0.3824 MPV17 Zornitza Stark Publications for gene: MPV17 were set to
Fetal anomalies v0.3823 MPV17 Zornitza Stark reviewed gene: MPV17: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 6 (hepatocerebral type), OMIM #256810; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.0 MPV17 Zornitza Stark gene: MPV17 was added
gene: MPV17 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: MPV17 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: MPV17 were set to MITOCHONDRIAL DNA DEPLETION SYNDROME 6