Unexplained kidney failure in young people
Gene: COQ8B
COQ8B (coenzyme Q8B)
EnsemblGeneIds (GRCh38): ENSG00000123815
EnsemblGeneIds (GRCh37): ENSG00000123815
OMIM: 615567, Gene2Phenotype
COQ8B is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000123815
EnsemblGeneIds (GRCh37): ENSG00000123815
OMIM: 615567, Gene2Phenotype
COQ8B is in 8 panels
1 review
Ellen McDonagh (Genomics England Curator)
This gene was previously named ADCK4.Created: 1 Mar 2018, 10:25 a.m.
This gene was suggested by an expert reviewer to add to this panel. More than 3 unrelated families were reported in PMID: 24270420, for different homozygous or compound heterozygous variants in 8 families from different ethnicities.Created: 1 Mar 2018, 10:24 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nephrotic syndrome, type 9 615573
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert Review
- Phenotypes
-
- Nephrotic syndrome, type 9 615573
- OMIM
- 615567
- Clinvar variants
- Variants in COQ8B
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
1 Mar 2018, Gel status: 3
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
1 Mar 2018, Gel status: 3
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
1 Mar 2018, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)COQ8B was added to Unexplained kidney failure in young people panel. Sources: Expert Review
1 Mar 2018, Gel status: 1
Created
Ellen McDonagh (Genomics England Curator)COQ8B was created by Ellen McDonagh