Unexplained kidney failure in young people
Gene: CD46
CD46 (CD46 molecule)
EnsemblGeneIds (GRCh38): ENSG00000117335
EnsemblGeneIds (GRCh37): ENSG00000117335
OMIM: 120920, Gene2Phenotype
CD46 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000117335
EnsemblGeneIds (GRCh37): ENSG00000117335
OMIM: 120920, Gene2Phenotype
CD46 is in 5 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least six variants reportedCreated: 4 Aug 2016, 10:29 a.m.
Comment on list classification: Tier 1 gene for Primary Membranoproliferative Glomeruloneprhistis in BRIDGE StudyCreated: 5 Jul 2016, 10:35 a.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- UKGTN
- Expert Review
- Phenotypes
-
- Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922
- OMIM
- 120920
- Clinvar variants
- Variants in CD46
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
17 Aug 2016, Gel status: 4
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
4 Aug 2016, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
5 Jul 2016, Gel status: 4
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
5 Jul 2016, Gel status: 2
Added New Source
Sarah Leigh (Genomics England Curator)CD46 was added to Unexplained kidney failure in young peoplepanel. Sources: Expert list,Expert Review,Illumina TruGenome Clinical Sequencing Services,UKGTN
5 Jul 2016, Gel status: 0
Created
Sarah Leigh (Genomics England Curator)CD46 was created by sleigh