Bone Marrow Failure

Gene: NBN

Green List (high evidence)

NBN (nibrin)
EnsemblGeneIds (GRCh38): ENSG00000104320
EnsemblGeneIds (GRCh37): ENSG00000104320
OMIM: 602667, Gene2Phenotype
NBN is in 19 panels

1 review

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

The Nijmegen breakage syndrome and the phenotypically indistinguishable Berlin breakage syndrome are autosomal recessive chromosomal instability syndromes characterized by microcephaly, growth retardation, immunodeficiency, and predisposition to cancer. >100 patients reported.
Sources: Expert list
Created: 12 Dec 2023, 10:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Variants in this GENE are reported as part of current diagnostic practice

History Filter Activity

15 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: nbn has been classified as Green List (High Evidence).

12 Dec 2023, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

Gene: nbn has been classified as Green List (High Evidence).

12 Dec 2023, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: NBN was added gene: NBN was added to Bone Marrow Failure. Sources: Expert list Mode of inheritance for gene: NBN was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NBN were set to PMID: 11325820, 15338273, 33488600, 33082212 Phenotypes for gene: NBN were set to Nijmegen breakage syndrome, MIM#251260; Aplastic anemia, MIM#609135; Leukemia, acute lymphoblastic, MIM#613065 Review for gene: NBN was set to GREEN gene: NBN was marked as current diagnostic