PanelApp
  1. Genes and Genomic Entities
  2. NBN

NBN

nibrin
OMIM: 602667, Gene2Phenotype

19 panels

Panel Reviews Mode of inheritance Details
19 panels

Green NBN in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.114

Component of the following Super Panels:

  • Immunological disorders_SuperPanel

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Nijmegen breakage syndrome, MIM#251260
    • Aplastic anemia, MIM#609135
    • Leukemia, acute lymphoblastic, MIM#613065

    Green NBN in Chromosome Breakage Disorders


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.21

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Nijmegen breakage syndrome, MIM# 251260
    • MONDO:0009623

    Green NBN in Mendeliome


    Version 1.2374

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Nijmegen breakage syndrome, MIM# 251260
    • MONDO:0009623

    Green NBN in Microcephaly


    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.301

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Nijmegen breakage syndrome, MIM# 251260
    • MONDO:0009623

    Green NBN in Cancer Predisposition_Paediatric


    Level 2: Cancer
    Version 0.131

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Nijmegen breakage syndrome, MIM# 251260
    • MONDO:0009623

    Green NBN in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.540

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green NBN in Combined Immunodeficiency


    Level 2: Immunological disorders
    Version 1.115

    Component of the following Super Panels:

  • Immunological disorders_SuperPanel

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

    Amber NBN in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.83

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Genetic Health Queensland
    Phenotypes
    • Nijmegen breakage syndrome, MIM# 251260

    Green NBN in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Nijmegen breakage syndrome, 251260 (3)

    Green NBN in Primary Ovarian Insufficiency_Premature Ovarian Failure

    Level 3: Gonadal and sex development disorders
    Level 2: Endocrine disorders
    Version 0.340

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

    Green NBN in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Nijmegen breakage syndrome

    Red NBN in Clefting disorders

    Level 3: Dysmorphic disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 0.260

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

    Green NBN in Incidentalome_PREGEN_DRAFT


    Version 0.43

    		review Unknown
    Sources
    • NSW Health Pathology
    • Expert Review Green

    Green NBN in Growth failure


    Version 1.76

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Victorian Clinical Genetics Services
    Phenotypes
    • Nijmegen breakage syndrome, MIM# 251260
    • MONDO:0009623

    Green NBN in Fetal anomalies


    Version 1.314

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    • Genetic Health Queensland
    Phenotypes
    • Nijmegen breakage syndrome, MIM# 251260

    Green NBN in Prepair 1000+


    Level 2: Screening
    Version 1.1586

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Nijmegen breakage syndrome, MIM#251260

    Red NBN in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.116

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    • BeginNGS
    Phenotypes
    • Nijmegen breakage syndrome, MIM#251260

    Green NBN in Prepair 500+


    Level 2: Screening
    Version 1.5

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Nijmegen breakage syndrome, 251260 (3)

    Green NBN in Sarcoma soft tissue


    Level 2: Cancer Predisposition
    Version 1.0

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    • Expert list
    Phenotypes
    • Soft tissue sarcoma, MONDO:0018078
    • Sarcoma, MONDO:0005089
    • Nijmegen breakage syndrome, MONDO:0009623
    • Nijmegen breakage syndrome, MIM#251260