NBN

PanelMode of inheritanceDetails
7 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NIJMEGEN BREAKAGE SYNDROME 251260
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
NIJMEGEN BREAKAGE SYNDROME
R-numbers: R147
Signed-off version 1.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nijmegen, Nijmegen breakage syndrome, 251260
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Class: BM failure syndrome (typ AR), NHL (non-Hodgkin lymphoma), glioma, medulloblastoma, rhabdomyosarcoma, Nijmegen breakage syndrome, Non-Hodgkin lymphoma and ALL (primarily T cell), Lymphoma, Rare reports of brain tumors, rhabdomyosarcoma
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nijmegen breakage syndrome 251260, Nijmegen breakage syndrome (NBS1), Aplastic anemia 609135, Microcephaly, dysmorphic facies, lymphomas, solid tumors, increased radiosensitivity, chromosomal instability, Combined immunodeficiencies with associated or syndromic features
R-numbers: R88
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nijmegen breakage syndrome 251260
R-numbers: R359
Signed-off version 2.5
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nijmegen Breakage Syndrome, 251260