Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Prepair 1000+ v1.531 BOLA3 Zornitza Stark Marked gene: BOLA3 as ready
Prepair 1000+ v1.531 BOLA3 Zornitza Stark Gene: bola3 has been classified as Green List (High Evidence).
Prepair 1000+ v1.531 BOLA3 Zornitza Stark Phenotypes for gene: BOLA3 were changed from Multiple mitochondrial dysfunctions syndrome 2, 614299 (3) to Multiple mitochondrial dysfunctions syndrome 2 with hyperglycinemia MIM#614299
Prepair 1000+ v1.530 BOLA3 Zornitza Stark Publications for gene: BOLA3 were set to
Prepair 1000+ v1.486 BOLA3 Michelle Torres reviewed gene: BOLA3: Rating: GREEN; 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
Prepair 1000+ v0.0 BOLA3 Zornitza Stark gene: BOLA3 was added
gene: BOLA3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
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, 614299 (3)