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Proteinuria

Gene: COQ2

Green List (high evidence)
COQ2 (coenzyme Q2, polyprenyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000173085
EnsemblGeneIds (GRCh37): ENSG00000173085
OMIM: 609825, Gene2Phenotype
COQ2 is in 13 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Bi-allelic variants in this gene have clinically been associated with: encephalomyopathic form with seizures and ataxia multisystem infantile form with encephalopathy, cardiomyopathy and renal failure predominantly cerebellar form with ataxia and cerebellar atrophy Leigh syndrome with growth retardation an isolated myopathic form. However, note molecular basis has not been determined in most patients reported. More than 5 families reported with confirmed variants in this gene.
Created: 30 Apr 2021, 10:28 a.m. | Last Modified: 30 Apr 2021, 10:28 a.m.
Panel Version: 0.7444

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Coenzyme Q10 deficiency, primary, 1, MIM# 607426; MONDO:0011829

Publications

Created: 30 Apr 2021, 10:28 a.m.
Last Modified: 30 Apr 2021, 10:28 a.m.
Panel version: Imported from Mendeliome panel version 0.7444

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COQ2 was added gene: COQ2 was added to Nephrotic Syndrome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: COQ2 was set to Unknown