1. Panels
  2. Renal and urinary tract disorders
  3. CD46
STRs in panel
Prev Next

Renal and urinary tract disorders

Gene: CD46

Green List (high evidence)
CD46 (CD46 molecule)
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 reported
Created: 4 Aug 2016, 10:29 a.m.
Comment on list classification: Tier 1 gene for Primary Membranoproliferative Glomeruloneprhistis in BRIDGE Study
Created: 5 Jul 2016, 10:35 a.m.
Created: 5 Jul 2016, 10:35 a.m.

Panel version: Imported from End-stage renal disease - childhood onset panel version 0.138

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922
OMIM
120920
Clinvar variants
Variants in CD46
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Eleanor Williams (Genomics England Curator)

Sarah Leigh: Comment on list classification

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: CD46 was added gene: CD46 was added to Renal and urinary tract disorders. Sources: Expert Review Green Mode of inheritance for gene: CD46 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: CD46 were set to 16621965; 14566051; 14615110 Phenotypes for gene: CD46 were set to Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922