| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Likely inborn error of metabolism - targeted testing not possible v1.47 | COQ6 |
Ivone Leong Source NHS GMS was added to COQ6. Source London North GLH was added to COQ6. |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ6 |
Ellen McDonagh Added phenotypes Coenzyme Q10 deficiency, primary, 6, 614650; Steroid-resistant nephrotic syndrome; Disorders of CoQ10 biosynthesis (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); Disorders of ubiquinone metabolism and biosynthesis for gene: COQ6 Publications for gene COQ6 were changed from PMID: 21540551 to 27604308 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | COQ6 |
Ellen McDonagh gene: COQ6 was added gene: COQ6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COQ6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ6 were set to PMID: 21540551 Phenotypes for gene: COQ6 were set to Coenzyme Q10 deficiency, primary, 6, 614650; Steroid-resistant nephrotic syndrome; Disorders of ubiquinone metabolism and biosynthesis |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||