Proteinuric renal disease
Gene: COQ2EnsemblGeneIds (GRCh38): ENSG00000173085
EnsemblGeneIds (GRCh37): ENSG00000173085
OMIM: 609825, Gene2Phenotype
COQ2 is in 17 panels
2 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: COQ2; Suggested initial gene rating: green; Evidence for inclusion: PMID: 29637272; PMID: 30180404 ; Other comments: Multiple unrelated patients with nephrotic syndrome and rare COQ2 variants (PMID: 29637272). 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, 1 #607426
Publications
Variants in this GENE are reported as part of current diagnostic practice
Ellen Thomas (Genomics England Curator)
Comment on list classification: More than 3 families with variable phenotypes, including early nephrotic syndrome as an isolated condition.Created: 16 May 2016, 8:41 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Eligibility statement prior genetic testing
- Phenotypes
-
- Coenzyme Q10 deficiency, primary, 1, OMIM:607426
- OMIM
- 609825
- Clinvar variants
- Variants in COQ2
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- White matter disorders and cerebral calcification - narrow panel
- Unexplained kidney failure in young people
- Mitochondrial disorders
- Early onset or syndromic epilepsy
- DDG2P
- Intellectual disability
- Inherited white matter disorders
- Adult onset neurodegenerative disorder
- Neonatal diabetes
- Retinal disorders
- Likely inborn error of metabolism
- Familial dysautonomia
- Possible mitochondrial disorder - nuclear genes
- Fetal anomalies
- Proteinuric renal disease
- Undiagnosed metabolic disorders
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: COQ2 were changed from Coenzyme Q10 deficiency, primary, 1 #607426 to Coenzyme Q10 deficiency, primary, 1, OMIM:607426
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: COQ2 were set to 17855635; 29637272; 30180404
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: COQ2 were changed from Coenzyme Q10 deficiency, primary, 1 #607426 to Coenzyme Q10 deficiency, primary, 1 #607426
Set Phenotypes
Eleanor Williams (Genomics England Curator)Phenotypes for gene: COQ2 were changed from to Coenzyme Q10 deficiency, primary, 1 #607426
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: COQ2 were set to PubMed: 17855635
Added New Source, Status Update
Eleanor Williams (Genomics England Curator)Source NHS GMS was added to COQ2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for COQ2 was changed to BIALLELIC, autosomal or pseudoautosomal
Set publications
Ellen Thomas (Genomics England Curator)Publications for COQ2 were set to PubMed: 17855635
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)COQ2 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
Added New Source
Ellen McDonagh (Genomics England Curator)COQ2 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing