Unexplained kidney failure in young people
Gene: CUBNEnsemblGeneIds (GRCh38): ENSG00000107611
EnsemblGeneIds (GRCh37): ENSG00000107611
OMIM: 602997, Gene2Phenotype
CUBN is in 8 panels
1 review
Sarah Leigh (Genomics England Curator)
Comment when marking as ready: Associated with phenotype in OMIM, not in G2P. At least three variants reportedCreated: 4 Aug 2016, 12:20 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Emory Genetics Laboratory
- UKGTN
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Expert
- Phenotypes
-
- Megaloblastic anemia-1, Finnish type, (originally on the Imerslund-Grasbeck syndrome gene panel) 261100
- OMIM
- 602997
- Clinvar variants
- Variants in CUBN
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 17th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)CUBN was added to Unexplained kidney failure in young peoplepanel. Sources: Emory Genetics Laboratory,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for CUBN were set to Megaloblastic anemia-1, Finnish type, (originally on the Imerslund-Grasbeck syndrome gene panel) 261100
Set publications
Sarah Leigh (Genomics England Curator)Publications for CUBN were set to 10080186; 21903995; 21208123
Added New Source
Sarah Leigh (Genomics England Curator)CUBN was added to Unexplained kidney failure in young peoplepanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,Expert,Expert Review Green
Created
Sarah Leigh (Genomics England Curator)CUBN was created by sleigh