Bone Marrow Failure
Gene: NBN
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 listCreated: 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
Gene: nbn has been classified as Green List (High Evidence).
Gene: nbn has been classified as Green List (High Evidence).
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