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  2. Renal and urinary tract disorders
  3. COQ8B
STRs in panel
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Renal and urinary tract disorders

Gene: COQ8B

Green List (high evidence)
COQ8B (coenzyme Q8B)
EnsemblGeneIds (GRCh38): ENSG00000123815
EnsemblGeneIds (GRCh37): ENSG00000123815
OMIM: 615567, Gene2Phenotype
COQ8B is in 8 panels

1 review

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

This gene was previously named ADCK4.
Created: 1 Mar 2018, 10:25 a.m.
This gene was suggested by an expert reviewer to add to this panel. More than 3 unrelated families were reported in PMID: 24270420, for different homozygous or compound heterozygous variants in 8 families from different ethnicities.
Created: 1 Mar 2018, 10:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 9 615573

Publications

Created: 1 Mar 2018, 10:24 a.m.

Panel version: Imported from End-stage renal disease - childhood onset panel version 1.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
  • Expert Review
Phenotypes
  • Nephrotic syndrome, type 9 615573
OMIM
615567
Clinvar variants
Variants in COQ8B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Ellen McDonagh: This gene was suggested by an

20 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ellen McDonagh (Genomics England Curator)

gene: COQ8B was added gene: COQ8B was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ8B were set to 24270420 Phenotypes for gene: COQ8B were set to Nephrotic syndrome, type 9 615573