Online Mendelian Inheritance in Man (OMIM)
Phenotypic Series - PS607426
Coenzyme Q10 deficiency, primary - PS607426 - 9 Entries
| Location | Phenotype | Inheritance |
Phenotype mapping key |
Phenotype MIM number |
Gene/Locus |
Gene/Locus MIM number |
|---|---|---|---|---|---|---|
| 1q42.13 | Coenzyme Q10 deficiency, primary, 4 | AR | 3 | 612016 | COQ8 | 606980 |
| 4q21.23 | Coenzyme Q10 deficiency, primary, 1 | AR | 3 | 607426 | COQ2 | 609825 |
| 6q21 | Coenzyme Q10 deficiency, primary, 3 | AR | 3 | 614652 | PDSS2 | 610564 |
| 9q34.11 | Coenzyme Q10 deficiency, primary, 7 | AR | 3 | 616276 | COQ4 | 612898 |
| 10p12.1 | Coenzyme Q10 deficiency, primary, 2 | AR | 3 | 614651 | PDSS1 | 607429 |
| 12q24.31 | ?Coenzyme Q10 deficiency, primary, 9 | AR | 3 | 619028 | COQ5 | 616359 |
| 14q24.3 | Coenzyme Q10 deficiency, primary, 6 | AR | 3 | 614650 | COQ6 | 614647 |
| 16p12.3 | Coenzyme Q10 deficiency, primary, 8 | AR | 3 | 616733 | COQ7 | 601683 |
| 16q21 | Coenzyme Q10 deficiency, primary, 5 | AR | 3 | 614654 | COQ9 | 612837 |
| Phenotype Mapping Key |
|---|
| 1 - The disorder is placed on the map due to its association with a gene, but the underlying defect is not known. |
| 2 - The disorder was placed on the map by statistical methods. |
| 3 - The molecular basis of the disorder is known. |
| 4 - A contiguous gene duplication or deletion syndrome in which multiple genes are involved. |
| Inheritance Abbreviations | |
|---|---|
| ?AD | ?Autosomal dominant |
| ?XLR | ?X-linked recessive |
| AD | Autosomal dominant |
| AR | Autosomal recessive |
| PD | Pseudoautosomal dominant |
| PR | Pseudoautosomal recessive |
| DD | Digenic dominant |
| DR | Digenic recessive |
| ICB | Inherited chromosomal imbalance |
| IC | Isolated cases |
| Mi | Mitochondrial |
| Mu | Multifactorial |
| SMo | Somatic mosaicism |
| SMu | Somatic mutation |
| XL | X-linked |
| XLD | X-linked dominant |
| XLR | X-linked recessive |
| YL | Y-linked |