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  3. COQ8B
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Proteinuria

Gene: COQ8B

Green List (high evidence)
COQ8B (coenzyme Q8B)
EnsemblGeneIds (GRCh38): ENSG00000123815
EnsemblGeneIds (GRCh37): ENSG00000123815
OMIM: 615567, Gene2Phenotype
COQ8B is in 7 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

Well-established
Created: 4 May 2022, 2:59 a.m. | Last Modified: 4 May 2022, 2:59 a.m.
Panel Version: 0.13680

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 9 MIM#615573

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 4 May 2022, 2:59 a.m.
Last Modified: 4 May 2022, 2:59 a.m.
Panel version: Imported from Mendeliome panel version 0.13680

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Sources: Expert list
Created: 20 Dec 2019, 2 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nephrotic syndrome, type 9, MIM#615573

Publications

Created: 20 Dec 2019, 2 a.m.

Panel version: 0.20

Details

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

History Filter Activity

20 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: coq8b has been classified as Green List (High Evidence).

20 Dec 2019, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: coq8b has been classified as Green List (High Evidence).

20 Dec 2019, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: COQ8B was added gene: COQ8B was added to Proteinuria_VCGS_KidGen. Sources: Expert list 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, MIM#615573 Review for gene: COQ8B was set to GREEN