NBN

24 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 24 panels
Red NBN in Familial breast cancer Level 3: Breast and endocrine Level 2: Tumour syndromes Version 1.28	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 1.19	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 1.70	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 1.15	review	Not set	Sources Emory Genetics Laboratory Phenotypes Brain, CNS, and PNS Cancer
Green NBN in COVID-19 research Level 2: Viral research Version 1.146	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 1.71	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 1.6	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 2: Inherited cancer Version 4.9 Latest signed off version: v4.0 (22 Mar 2023)	review	Not set	Sources Emory Genetics Laboratory Phenotypes Breast and Ovarian Cancer
Green NBN in Childhood solid tumours Level 2: Cancer susceptibility Version 5.9 Latest signed off version: v5.0 (30 Apr 2025)	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 or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	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 1.123	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 1.26	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 1.30	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Nijmegen Breakage Syndrome
Green NBN in Haematological malignancies cancer susceptibility Level 2: Cancer susceptibility Version 4.37 Latest signed off version: v4.0 (22 Mar 2023)	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 2: Neurology Version 8.31 Latest signed off version: v8.0 (30 Apr 2025)	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 Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	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 Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE DD-Gene2Phenotype Expert Review Green Phenotypes NIJMEGEN BREAKAGE SYNDROME
No list NBN in Osteogenesis imperfecta Level 2: Musculoskeletal Version 5.4 Latest signed off version: v5.0 (30 Apr 2025)	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 6.424 Latest signed off version: v6.0 (30 Apr 2025) 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 2: Musculoskeletal Version 6.20 Latest signed off version: v6.5 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Phenotypes Nijmegen breakage syndrome, 251260 NBS
Amber NBN in Intellectual disability Level 2: Developmental disorders Version 9.279 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	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 Level 2: Cancer susceptibility Version 1.82 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 Nijmegen breakage syndrome Level 2: Haematology Version 1.3 Latest signed off version: v1.0 (14 Sep 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Phenotypes Nijmegen breakage syndrome, OMIM:251260 Nijmegen breakage syndrome, MONDO:0009623
Green NBN in Monogenic short stature Level 2: Endocrinology Version 1.31 Latest signed off version: v1.0 (7 Aug 2024)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Nijmegen breakage syndrome, OMIM:251260

NBN

24 panels

Red NBN in Familial breast cancer

Sources

Phenotypes

Green NBN in Haematological malignancies for rare disease

Sources

Phenotypes

Green NBN in IUGR and IGF abnormalities

Sources

Phenotypes

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

Sources

Phenotypes

Green NBN in COVID-19 research

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Phenotypes

Red NBN in Primary ovarian insufficiency

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Phenotypes

Green NBN in Familial rhabdomyosarcoma

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Phenotypes

Red NBN in Inherited ovarian cancer (without breast cancer)

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Phenotypes

Green NBN in Childhood solid tumours

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Phenotypes

Green NBN in Primary immunodeficiency or monogenic inflammatory bowel disease

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Phenotypes

Green NBN in Cytopenias and congenital anaemias

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Phenotypes

Amber NBN in Sarcoma cancer susceptibility

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Phenotypes

Green NBN in Childhood solid tumours cancer susceptibility

Sources

Phenotypes

Green NBN in Haematological malignancies cancer susceptibility

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Phenotypes

Green NBN in Severe microcephaly

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Phenotypes

Amber NBN in Cytopenia - NOT Fanconi anaemia

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Phenotypes

Green NBN in Fetal anomalies

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Phenotypes

No list NBN in Osteogenesis imperfecta

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Phenotypes

Tags

Green NBN in DDG2P

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Phenotypes

Red NBN in Clefting

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Phenotypes

Amber NBN in Intellectual disability

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Phenotypes

Amber NBN in Sarcoma susceptibility

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Phenotypes

Green NBN in Nijmegen breakage syndrome

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Phenotypes

Green NBN in Monogenic short stature

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Phenotypes