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Cytopenias and congenital anaemias

Gene: CUBN

Green List (high evidence)
CUBN (cubilin)
EnsemblGeneIds (GRCh38): ENSG00000107611
EnsemblGeneIds (GRCh37): ENSG00000107611
OMIM: 602997, Gene2Phenotype
CUBN is in 8 panels

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Although confined to certain populations (founder / consanguinity) sufficient evidence and an appropriate phenotype
Created: 28 Feb 2017, 1:21 p.m.
Several families associated with this disease and gene, however in populations with founder effect (Finnish) or high levels of consanguinity (middle east). Less likely to be widely applicable, however phenotype is appropriate for inclusion and is potentially treatable with cobalamin; therefore include.
Created: 28 Feb 2017, 11:03 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MEGALOBLASTIC ANEMIA 1 261100

Publications

Created: 28 Feb 2017, 11:03 a.m.

Panel version: 0.107

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
Tags
treatable
OMIM
602997
Clinvar variants
Variants in CUBN
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

28 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

28 Feb 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for CUBN were set to 15024727

28 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

17 Feb 2017, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

CUBN was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

CUBN was created by LouiseD