| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Possible mitochondrial disorder - nuclear genes v0.5 | ELAC2 | Ivone Leong reviewed gene: ELAC2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 17, 615440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.2 | ELAC2 |
Ivone Leong gene: ELAC2 was added gene: ELAC2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: ELAC2 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ELAC2 were set to Combined oxidative phosphorylation deficiency 17, 615440 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||