Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Fetal anomalies v0.1123 BOLA3 Zornitza Stark Marked gene: BOLA3 as ready
Fetal anomalies v0.1123 BOLA3 Zornitza Stark Gene: bola3 has been classified as Amber List (Moderate Evidence).
Fetal anomalies v0.1123 BOLA3 Zornitza Stark Phenotypes for gene: BOLA3 were changed from MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299
Fetal anomalies v0.1122 BOLA3 Zornitza Stark Publications for gene: BOLA3 were set to
Fetal anomalies v0.1121 BOLA3 Zornitza Stark reviewed gene: BOLA3: Rating: AMBER; Mode of pathogenicity: None; Publications: 30302924, 29654549, 30302924; Phenotypes: Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia, MIM# 614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Fetal anomalies v0.0 BOLA3 Zornitza Stark gene: BOLA3 was added
gene: BOLA3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp
Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: BOLA3 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2