Genomics England

NBN

nibrin

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Childhood solid tumours R-numbers: R359 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nijmegen Breakage Syndrome, 251260
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes NIJMEGEN BREAKAGE SYNDROME 251260
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes NIJMEGEN BREAKAGE SYNDROME
Green in Haematological malignancies cancer susceptibility Signed-off version 4.0	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
Green in Monogenic short stature R-numbers: R453 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nijmegen breakage syndrome, OMIM:251260
Green in Nijmegen breakage syndrome R-numbers: R259.2 Signed-off version 1.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes
Green in Primary immunodeficiency or monogenic inflammatory bowel disease R-numbers: R15 Signed-off version 7.0	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
Green in Severe microcephaly R-numbers: R88 Signed-off version 7.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Nijmegen breakage syndrome 251260