Activity

Filter

Cancel
Date Panel Item Activity
8 actions
Fetal anomalies v0.3843 NDUFS7 Zornitza Stark Marked gene: NDUFS7 as ready
Fetal anomalies v0.3843 NDUFS7 Zornitza Stark Gene: ndufs7 has been classified as Red List (Low Evidence).
Fetal anomalies v0.3843 NDUFS7 Zornitza Stark Phenotypes for gene: NDUFS7 were changed from MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY to Mitochondrial complex I deficiency, nuclear type 3, MIM#618224
Fetal anomalies v0.3842 NDUFS7 Zornitza Stark Publications for gene: NDUFS7 were set to
Fetal anomalies v0.2948 NDUFS7 Ain Roesley reviewed gene: NDUFS7: Rating: RED; Mode of pathogenicity: None; Publications: 17604671, 17275378, 10360771; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 MIM#618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.2948 NDUFS7 Ain Roesley Deleted their review
Fetal anomalies v0.2948 NDUFS7 Ain Roesley reviewed gene: NDUFS7: Rating: RED; Mode of pathogenicity: None; Publications: 34797029; Phenotypes: Mitochondrial complex I deficiency, nuclear type 3 MIM#618224; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes
Fetal anomalies v0.0 NDUFS7 Zornitza Stark gene: NDUFS7 was added
gene: NDUFS7 was added to Fetal anomalies. Sources: Expert Review Red,Genomics England PanelApp
Mode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: NDUFS7 were set to MITOCHONDRIAL RESPIRATORY CHAIN COMPLEX I DEFICIENCY