NBN

Red NBN in Familial breast cancer

Level 3: Breast and endocrine
Level 2: Tumour syndromes
Version 1.20

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 1.18

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 1.69

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 1.14

Sources

• Emory Genetics Laboratory

Phenotypes

• Brain, CNS, and PNS Cancer

Green NBN in COVID-19 research

Level 2: Viral research
Version 1.142

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 1.68

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 1.5

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 4.3
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Emory Genetics Laboratory

Phenotypes

• Breast and Ovarian Cancer

Green NBN in Childhood solid tumours

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 4.18
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• NHS GMS
• Expert List
• Expert Review Green
• Expert list

Phenotypes

• Nijmegen Breakage Syndrome
• 251260

Green NBN in Primary immunodeficiency or monogenic inflammatory bowel disease

Version 5.3
Latest signed off version: v5.0 (1 May 2024)

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 1.118

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 1.25

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 1.27

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 4.5
Latest signed off version: v4.0 (22 Mar 2023)

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 5.7
Latest signed off version: v5.0 (1 May 2024)

Sources

• NHS GMS
• Expert Review Green
• Emory Genetics Laboratory
• Illumina TruGenome Clinical Sequencing Services
• Radboud University Medical Center, Nijmegen

Phenotypes

• Nijmegen breakage syndrome 251260

Amber NBN in Cytopenia - NOT Fanconi anaemia

Version 3.34
Latest signed off version: v3.0 (22 Mar 2023)

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 4.1
Latest signed off version: v4.0 (1 May 2024)

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 4.5
Latest signed off version: v4.0 (22 Mar 2023)

Sources

• Expert Review Removed
• Emory Genetics Laboratory

Phenotypes

• Proportionate Short Stature/Small for Gestational Age

Tags

• curated_removed

Green NBN in DDG2P

Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

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 5.3
Latest signed off version: v5.0 (1 May 2024)

Component of the following Super Panels:

Sources

• Expert Review Red

Phenotypes

• Nijmegen breakage syndrome, 251260
• NBS

Green NBN in Growth failure in early childhood

Version 3.95
Latest signed off version: v3.0 (22 Mar 2023)

Sources

• Expert list
• Expert Review Green

Phenotypes

• Nijmegen breakage syndrome, OMIM:251260

Amber NBN in Intellectual disability

Level 3: Neurodevelopmental disorders
Level 2: Neurology and neurodevelopmental disorders
Version 6.11
Latest signed off version: v6.0 (1 May 2024)

Component of the following Super Panels:

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 1.81
Latest signed off version: v1.2 (18 Feb 2020)

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 1.184

Sources

• Next Generation Children Project
• Expert Review Green
• Expert list

Phenotypes

• Nijmegen breakage syndrome, 251260
• Leukemia, acute lymphoblastic, 613065
• Aplastic anemia, 609135

Green NBN in Nijmegen breakage syndrome

Version 1.1
Latest signed off version: v1.0 (14 Sep 2023)

Sources

• NHS GMS
• Expert Review Green