Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
DDG2P v3.12 | BOLA3 | Achchuthan Shanmugasundram reviewed gene: BOLA3: Rating: GREEN; Mode of pathogenicity: ; Publications: 11156534; Phenotypes: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2, OMIM:614299; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | BOLA3 |
Achchuthan Shanmugasundram Source Expert Review Green was added to BOLA3. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | BOLA3 | Rebecca Foulger reviewed gene: BOLA3: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | BOLA3 |
Rebecca Foulger gene: BOLA3 was added gene: BOLA3 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BOLA3 were set to 11156534 Phenotypes for gene: BOLA3 were set to MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 2 614299 |