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Newborns main panel

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

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
https://pubmed.ncbi.nlm.nih.gov/32957916/ - 50 families
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.134
Created: 1 Jun 2023, 12:22 p.m.
Last Modified: 1 Jun 2023, 12:22 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • COQ8B related primary coenzyme Q10 deficiency with nephrotic syndrome
OMIM
615567
Clinvar variants
Variants in COQ8B
Penetrance
None
Panels with this gene

History Filter Activity

7 Feb 2024, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: COQ8B were changed from Nephrotic syndrome, type 9 to COQ8B related primary coenzyme Q10 deficiency with nephrotic syndrome

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Nephrotic syndrome, type 9 for gene: COQ8B

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to COQ8B. Added phenotypes Nephrotic syndrome, type 9 for gene: COQ8B Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to COQ8B. Added phenotypes Nephrotic syndrome, type 9 for gene: COQ8B Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to COQ8B. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Nephrotic syndrome, type 9 for gene: COQ8B

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: COQ8B was added gene: COQ8B was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: COQ8B was set to BIALLELIC, autosomal or pseudoautosomal