Proteinuric renal disease
Gene: COQ6EnsemblGeneIds (GRCh38): ENSG00000119723
EnsemblGeneIds (GRCh37): ENSG00000119723
OMIM: 614647, Gene2Phenotype
COQ6 is in 8 panels
3 reviews
Eleanor Williams (Genomics England Curator)
This gene was part of an initial gene list collated by Elizabeth Watson, North Bristol NHS Trust, February 2019 on behalf of the GMS Renal Specialist Test Group. Gene Symbol submitted: COQ6; Suggested initial gene rating: green; Evidence for inclusion: PMID21540551; Other comments: Mulitple unrelated patients with nephrotic syndrome are rare COQ6 variants (PMID21540551) No cases detected in cohort of >600 SRNS patients.Created: 4 Feb 2019, 10:41 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Coenzyme Q10 deficiency, primary, 6 #614650
Publications
- PMID21540551
Variants in this GENE are reported as part of current diagnostic practice
Ellen Thomas (Genomics England Curator)
Comment on list classification: Can cause syndromic form but nephrotic syndrome presents young.Created: 16 May 2016, 8:29 p.m.
Maggie Williams (North Bristol NHS Trust)
Currently on UK diagnostic panel, but no positive cases over 300 tested
Listed in several reviewsCreated: 19 Oct 2015, 2:20 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- Phenotypes
-
- Coenzyme Q10 deficiency, primary, 6 #614650
- OMIM
- 614647
- Clinvar variants
- Variants in COQ6
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Unexplained kidney failure in young people
- Mitochondrial disorders
- Possible mitochondrial disorder - nuclear genes
- Early onset or syndromic epilepsy
- Proteinuric renal disease
- Undiagnosed metabolic disorders
History Filter Activity
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: COQ6 were changed from to Coenzyme Q10 deficiency, primary, 6 #614650
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: COQ6 were set to
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to COQ6. Rating Changed from Green List (high evidence) to Green List (high evidence)
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for COQ6 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)COQ6 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)COQ6 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing