NBN

nibrin
OMIM: 602667, Gene2Phenotype

23 panels

Panel Reviews Mode of inheritance Details
23 panels

Red NBN in Familial breast cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.13

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer

Green NBN in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.1

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Curated sources
  • Expert Review Green
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 NBN in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.29

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Nijmegen breakage syndrome

Red NBN in Familial Tumours Syndromes of the central & peripheral Nervous system

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.9

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Brain, CNS, and PNS Cancer

Red NBN in Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.16

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Nijmegen breakage syndrome 251260

Green NBN in Familial rhabdomyosarcoma

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.4

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Nijmegen breakage syndrome, 251260

Red NBN in Inherited ovarian cancer (without breast cancer)

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 2.0

review Not set
Sources
  • Emory Genetics Laboratory
Phenotypes
  • Breast and Ovarian Cancer

Green NBN in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 1.36

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • Expert list
Phenotypes
  • Nijmegen Breakage Syndrome
  • 251260

Red NBN in Tumour predisposition - adult onset


Version 1.1

review Unknown
Sources
  • Expert Review Red
  • Familial Tumours Syndromes of the central & peripheral Nervous system (Version 1.8)
Phenotypes
  • Brain, CNS, and PNS Cancer

Green NBN in Primary immunodeficiency


Version 2.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Expert Review Green
  • ESID Registry 20171117
  • GRID V2.0
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 NBN in Cytopenias and congenital anaemias

Level 3: Anaemias and red cell disorders
Level 2: Haematological disorders
Version 1.73

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Aplastic anemia, 609135
  • Leukemia, acute lymphoblastic, 613065
  • Nijmegen breakage syndrome, 251260

Amber NBN in Sarcoma cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.15

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Nijmegen breakage syndrome, 251260

Green NBN in Childhood solid tumours cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.6

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Nijmegen Breakage Syndrome

Green NBN in Haematological malignancies cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.20

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Curated sources
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 NBN in Severe microcephaly

Level 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.74

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • Nijmegen breakage syndrome 251260

Amber NBN in Cytopenia - NOT Fanconi anaemia


Version 1.0

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • Aplastic anemia, 609135
  • 251260 Nijmegen breakage syndrome
  • Leukemia, acute lymphoblastic, 613065
  • Nijmegen breakage syndrome, 251260

Green NBN in Fetal anomalies


Version 0.346

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • PAGE DD-Gene2Phenotype
  • Expert Review Green
Phenotypes
  • NIJMEGEN BREAKAGE SYNDROME

No list NBN in Osteogenesis imperfecta

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 2.0

review Not set
Sources
  • Expert Review Removed
  • Emory Genetics Laboratory
Phenotypes
  • Proportionate Short Stature/Small for Gestational Age

Green NBN in DDG2P


Version 1.148

Component of the following Super Panels:

  • Paediatric disorders v4.357
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • NIJMEGEN BREAKAGE SYNDROME 251260

    Red NBN in Clefting

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.59

    Component of the following Super Panels:

  • Paediatric disorders v4.357
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Nijmegen breakage syndrome, 251260
    • NBS

    Green NBN in Growth failure in early childhood


    Version 1.3

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert list
    • Expert Review Green
    Phenotypes
    • Nijmegen
    • Nijmegen breakage syndrome, 251260

    Amber NBN in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1098

    Component of the following Super Panels:

  • Paediatric disorders v4.357
  • White matter disorders - childhood onset v4.205
  • Hypotonic infant with a likely central cause v3.1025
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Amber
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Gene2Phenotype confirmed gene with ID HPO

    Amber NBN in Sarcoma susceptibility


    Version 0.10

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    • Literature
    • Expert Review Amber
    Phenotypes
    • Nijmegen breakage syndrome, 251260