Activity
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| Proteinuric renal disease v1.191 | COQ7 | Eleanor Williams Phenotypes for gene: COQ7 were changed from to ?Coenzyme Q10 deficiency, primary, 8 #616733 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.190 | COQ7 | Eleanor Williams Publications for gene: COQ7 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 | COQ7 | Eleanor Williams reviewed gene: COQ7: Rating: RED; Mode of pathogenicity: ; Publications: PMID: 26084283; Phenotypes: ?Coenzyme Q10 deficiency, primary, 8 #616733; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.15 | COQ7 |
Eleanor Williams gene: COQ7 was added gene: COQ7 was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: COQ7 was set to |
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