| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| DDG2P v3.12 | NDUFA6 | Achchuthan Shanmugasundram reviewed gene: NDUFA6: Rating: GREEN; Mode of pathogenicity: ; Publications: 30245030; Phenotypes: Early Onset Isolated Mitochondrial Complex I Deficiency; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | NDUFA6 |
Achchuthan Shanmugasundram Source Expert Review Green was added to NDUFA6. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.38 | NDUFA6 | Rebecca Foulger reviewed gene: NDUFA6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.37 | NDUFA6 |
Rebecca Foulger gene: NDUFA6 was added gene: NDUFA6 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: NDUFA6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NDUFA6 were set to 30245030 Phenotypes for gene: NDUFA6 were set to Early Onset Isolated Mitochondrial Complex I Deficiency |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||