NBN

nibrin
OMIM: 602667, Gene2Phenotype

24 panels

Panel Reviews Mode of inheritance Details
24 panels

Red NBN in Familial breast cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.14

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 1.7

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 1.38

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 1.10

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

Green NBN in COVID-19 research


Level 2: Viral research
Version 1.80

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • 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 (NBS1)
  • Nijmegen breakage syndrome 251260
  • Aplastic anemia 609135
  • Microcephaly, dysmorphic facies, lymphomas, solid tumors, increased radiosensitivity, chromosomal instability
  • Combined immunodeficiencies with associated or syndromic features

Red NBN in Primary ovarian insufficiency

Level 3: Gonadal and sex development disorders
Level 2: Endocrine disorders
Version 1.49

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 2.21
Latest signed off version: v2.2 (4 Mar 2020)

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 2.23
Latest signed off version: v2.5 (4 Mar 2020)

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

Green NBN in Primary immunodeficiency


Version 2.477
Latest signed off version: v2.1 (24 Feb 2020)

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 1.88

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 1.20

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 1.15

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 2.21
Latest signed off version: v2.2 (18 Feb 2020)

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 2.264
Latest signed off version: v2.2 (2 Mar 2020)

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 1.43
Latest signed off version: v1.29 (15 Oct 2020)

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 1.728
Latest signed off version: v1.92 (21 Aug 2020)

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 2.37
Latest signed off version: v2.2 (13 Feb 2020)

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

Green NBN in DDG2P


Version 2.49
Latest signed off version: v2.2 (13 Feb 2020)

Component of the following Super Panels:

  • Paediatric disorders
  • 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 2.57
    Latest signed off version: v2.2 (4 Mar 2020)

    Component of the following Super Panels:

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

    Green NBN in Growth failure in early childhood


    Version 1.85
    Latest signed off version: v1.4 (3 Mar 2020)

    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 3.1367
    Latest signed off version: v3.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • 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 1.69
    Latest signed off version: v1.2 (18 Feb 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    • Literature
    • Expert Review Amber
    Phenotypes
    • Nijmegen breakage syndrome, OMIM:251260
    • Rhabdomyosarcoma (disease), MONDO:0005212

    Green NBN in Severe Paediatric Disorders


    Version 1.84

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Nijmegen breakage syndrome, 251260
    • Leukemia, acute lymphoblastic, 613065
    • Aplastic anemia, 609135