Non-Fanconi anaemia
Gene: CUBNEnsemblGeneIds (GRCh38): ENSG00000107611
EnsemblGeneIds (GRCh37): ENSG00000107611
OMIM: 602997, Gene2Phenotype
CUBN is in 8 panels
3 reviews
Mark Greenslade (Bristol Genetics Laboratory)
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: Marked as Ready: 4th May 2017.Created: 4 May 2017, 1:21 p.m.
Comment on list classification: Updated rating from Amber to Green: Green expert review plus >3 unrelated cases of CUBN variants in Megaloblastic anemia patients.Created: 4 May 2017, 1:21 p.m.
Comment on mode of inheritance: Biallelic mode of inheritance supported by OMIM.Created: 4 May 2017, 1:20 p.m.
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Megaloblastic anemia-1, Finnish type, 261100
- Megaloblastic Anemia
- OMIM
- 602997
- Clinvar variants
- Variants in CUBN
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for CUBN was changed to BIALLELIC, autosomal or pseudoautosomal
Set publications
Rebecca Foulger (Genomics England curator)Publications for CUBN were set to 12590260; 15024727; 17285242
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CUBN was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)CUBN was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CUBN was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)CUBN was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CUBN was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)CUBN was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CUBN was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)CUBN was added to Non-Fanconi anaemiapanel. Source: Radboud University Medical Center, Nijmegen
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CUBN was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CUBN was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CUBN was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CUBN was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene CUBN was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)CUBN was added to Non-Fanconi anaemiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)CUBN was added to Non-Fanconi anaemiapanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services