COQ8A and autosomal recessive ataxia due to ubiquinone deficiency: For example, the two most frequent and earliest phenotypes associated with CoQ10 deficiency, steroid-resistant nephrotic syndrome (SRNS) and cerebellar ataxia, have been linked to specific molecular defects in CoQ10 biosynthetic enzymes, and specific COQ genes have been added to targeted diagnostic panels [e.g., COQ8A, previously known as ADCK3, is included in ataxia gene panels because pathogenic variants in this gene cause autosomal recessive cerebellar ataxia 2 (ARCA2)][12,13].