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| Proteinuric renal disease v1.100 | COQ6 | Eleanor Williams Phenotypes for gene: COQ6 were changed from to Coenzyme Q10 deficiency, primary, 6 #614650 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.99 | COQ6 | Eleanor Williams Publications for gene: COQ6 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.43 | COQ8B |
Eleanor Williams commented on gene: COQ8B: Associated with Nephrotic syndrome, type 9 615573 in OMIM. Previous symbol: ADCK4. PMID: 24270420 - Ashraf et al 2013 - using a combination of homozygosity mapping and whole human exome resequencing, identified variants in the aarF domain containing kinase 4 (ADCK4) gene in 15 individuals with SRNS from 8 unrelated families. Several different variants. Functional data supports the role of this gene's involvement in nephrotic syndrome-associated phenotypes. In human podocytes, ADCK4 interacted with members of the CoQ10 biosynthesis pathway, including COQ6, which has been linked with SRNS and COQ7. |
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| Proteinuric renal disease v1.16 | COQ6 | Eleanor Williams reviewed gene: COQ6: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID21540551; Phenotypes: Coenzyme Q10 deficiency, primary, 6 #614650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.15 | COQ6 |
Eleanor Williams Source NHS GMS was added to COQ6. Rating Changed from Green List (high evidence) to Green List (high evidence) |
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