Proteinuric renal disease
Gene: COQ2
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
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.
Phenotypes for gene: COQ2 were changed from Coenzyme Q10 deficiency, primary, 1 #607426 to Coenzyme Q10 deficiency, primary, 1, OMIM:607426
Publications for gene: COQ2 were set to 17855635; 29637272; 30180404
Phenotypes for gene: COQ2 were changed from Coenzyme Q10 deficiency, primary, 1 #607426 to Coenzyme Q10 deficiency, primary, 1 #607426
Phenotypes for gene: COQ2 were changed from to Coenzyme Q10 deficiency, primary, 1 #607426
Publications for gene: COQ2 were set to PubMed: 17855635
Source NHS GMS was added to COQ2. Rating Changed from Green List (high evidence) to Green List (high evidence)
Mode of inheritance for COQ2 was changed to BIALLELIC, autosomal or pseudoautosomal
Publications for COQ2 were set to PubMed: 17855635
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
COQ2 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
COQ2 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing