| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Likely inborn error of metabolism - targeted testing not possible v2.303 | QRSL1 | Arina Puzriakova Phenotypes for gene: QRSL1 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 40, 618835 to Combined oxidative phosphorylation deficiency 40, OMIM:618835 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.302 | QRSL1 | Arina Puzriakova Publications for gene: QRSL1 were set to 29440775; 26741492 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v2.8 | QRSL1 | Eleanor Williams Phenotypes for gene: QRSL1 were changed from Multiple respiratory chain complex deficiencies (disorders of protein synthesis) to Multiple respiratory chain complex deficiencies (disorders of protein synthesis); Combined oxidative phosphorylation deficiency 40, 618835 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.246 | GATC | Sarah Leigh Added comment: Comment on list classification: This rating is based on the evidence that GATB, GATC & QRSL1 are functioning together in the development of this condition. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.245 | GATC | Sarah Leigh Added comment: Comment on list classification: This rating is based on the evidence that GATB, GATC & QRSL1 are functioning together in the development of this condition. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.245 | GATC | Sarah Leigh Added comment: Comment on list classification: This rating is based on the evidence that GATB, GATC & QRSL1 are functioning together in the development of this condition. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v1.76 | QRSL1 |
Sarah Leigh Source Expert Review Green was added to QRSL1. Mode of inheritance for gene QRSL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Multiple respiratory chain complex deficiencies (disorders of protein synthesis) for gene: QRSL1 Publications for gene QRSL1 were changed from to 29440775; 26741492 Rating Changed from Red List (low evidence) to Green List (high evidence) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Likely inborn error of metabolism - targeted testing not possible v0.4 | QRSL1 |
Ellen McDonagh gene: QRSL1 was added gene: QRSL1 was added to Inborn errors of metabolism. Sources: Expert Review Red Mode of inheritance for gene: QRSL1 was set to Unknown Phenotypes for gene: QRSL1 were set to Multiple respiratory chain complex deficiencies (disorders of protein synthesis) |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||