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Cytopenias and congenital anaemias

Gene: NBN

Green List (high evidence)

NBN (nibrin)
EnsemblGeneIds (GRCh38): ENSG00000104320
EnsemblGeneIds (GRCh37): ENSG00000104320
OMIM: 602667, Gene2Phenotype
NBN is in 24 panels

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Associated with phenotypes in OMIM, and as a confirmed G2P gene for Nijmegen breakage syndrome, 251260. One variant reported in 3 unrelated cases of Leukemia, acute lymphoblastic 613065 and in one case of Aplastic anemia 609135
Created: 9 Mar 2017, 4:32 p.m.

Phenotypes
Aplastic anemia, 609135; Leukemia, acute lymphoblastic, 613065; Nijmegen breakage syndrome, 251260

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.

10 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

9 Mar 2017, Gel status: 4

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for NBN was changed to BIALLELIC, autosomal or pseudoautosomal

9 Mar 2017, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

NBN was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Green

7 Mar 2017, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for NBN were set to 11325820; 15338273

7 Mar 2017, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for NBN were set to 11325820; 15338273

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

NBN was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

NBN was created by LouiseD