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| Proteinuric renal disease v1.47 | COQ8B | Eleanor Williams Phenotypes for gene: COQ8B were changed from to Nephrotic syndrome, type 9 #615573 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.46 | COQ8B | Eleanor Williams Publications for gene: COQ8B were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.45 | COQ8B | Eleanor Williams Mode of inheritance for gene: COQ8B was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.44 | COQ8B | Eleanor Williams Classified gene: COQ8B as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.44 | COQ8B | Eleanor Williams Added comment: Comment on list classification: >3 families with plausible disease causing variants in COQ8B. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.44 | COQ8B | Eleanor Williams Gene: coq8b has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 | COQ8B | Eleanor Williams reviewed gene: COQ8B: Rating: GREEN; Mode of pathogenicity: ; Publications: PMID: 24270420; Phenotypes: Nephrotic syndrome, type 9 #615573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Proteinuric renal disease v1.15 | COQ8B |
Eleanor Williams gene: COQ8B was added gene: COQ8B was added to Proteinuric renal disease. Sources: NHS GMS Mode of inheritance for gene: COQ8B was set to |
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