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STRs in panel
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Inborn errors of metabolism

Gene: COQ8B

Green List (high evidence)

COQ8B (coenzyme Q8B)
EnsemblGeneIds (GRCh38): ENSG00000123815
EnsemblGeneIds (GRCh37): ENSG00000123815
OMIM: 615567, Gene2Phenotype
COQ8B is in 9 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Comment on publications: Report in 8 unrelated families
Created: 10 Jan 2017, 10:18 a.m.

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.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

History Filter Activity

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Checked against super panel made up of the panel constituents. Ready to promote to version 1.

16 Dec 2018, Gel status: 4

Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Added phenotypes Nephrotic syndrome, type 9 for gene: COQ8B Publications for gene COQ8B were changed from PMID: 24270420 (8 unrelated families). to 24270420

16 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 Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COQ8B were set to PMID: 24270420 (8 unrelated families). Phenotypes for gene: COQ8B were set to Nephrotic syndrome, type 9