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
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.
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.
Sarah Leigh Added comment: Comment on list classification: Not associated with phenotype in OMIM or in Gen2Phen. At least 2 biallelic variants reported in two unrelated cases, together with supportive functional evidence.