Possible mitochondrial disorder - nuclear genes
Gene: COQ8B

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

3 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 9, 615573

Created: 4 Feb 2019, 1:36 p.m.

Panel version: 0.5

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed on OMIM.
Created: 15 Mar 2016, 8:39 a.m.

Comment on list classification: Two reviewers suggesting that this gene should be green: Carl Fratter also suggests this should be green. Gene therefore promoted to green.
Created: 15 Mar 2016, 8:39 a.m.

Created: 15 Mar 2016, 8:39 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.528

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

Created: 8 Feb 2016, 10:33 a.m.

Panel version: Imported from Mitochondrial disorders panel version 0.37

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green

Phenotypes

Nephrotic syndrome, type 9, 615573

OMIM

615567

Clinvar variants

Variants in COQ8B

Penetrance

None

Panels with this gene

History Filter Activity

4 Feb 2019, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: COQ8B was added gene: COQ8B was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: COQ8B were set to Nephrotic syndrome, type 9, 615573

Possible mitochondrial disorder - nuclear genes Gene: COQ8B