Mitochondrial disorders
Gene: COQ8B

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

2 reviews

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: 0.528

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

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

Panel version: 0.37

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Victorian Clinical Genetics Services
Expert Review Green
Expert

Phenotypes

Nephrotic syndrome, type 9

OMIM

615567

Clinvar variants

Variants in COQ8B

Penetrance

Complete

Publications

PMID: 24270420 (8 unrelated families).

Panels with this gene

History Filter Activity

28 Aug 2018, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

Victorian Clinical Genetics Services was added to COQ8B. Panel: Mitochondrial disorders

5 Nov 2017, Gel status: 3

Changed Gene Name

GEL ()

ADCK4 was changed to COQ8B

15 Mar 2016, Gel status: 4