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  2. Kidneyome_SuperPanel_KidGen_VCGS
  3. COQ8B
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Kidneyome_SuperPanel_KidGen_VCGS

Gene: COQ8B

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

0 reviews

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • 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

24 Dec 2019, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Added phenotypes Nephrotic syndrome, type 9, MIM#615573 for gene: COQ8B

23 Dec 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: COQ8B was added gene: COQ8B was added to Kidneyome_SuperPanel_KidGen_VCGS. Sources: Expert list,Expert Review Green 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