Proteinuric renal disease
Gene: COQ6
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
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: Can cause syndromic form but nephrotic syndrome presents young.Created: 16 May 2016, 8:29 p.m.
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
Phenotypes for gene: COQ6 were changed from to Coenzyme Q10 deficiency, primary, 6 #614650
Publications for gene: COQ6 were set to
Source NHS GMS was added to COQ6. Rating Changed from Green List (high evidence) to Green List (high evidence)
This gene has been classified as Green List (High Evidence).
Mode of inheritance for COQ6 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
COQ6 was added to Proteinuric renal diseasepanel. Source: Eligibility statement prior genetic testing
COQ6 was added to Proteinuric renal diseasepanel. Sources: Eligibility statement prior genetic testing