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  1. Genes and Genomic Entities
  2. NBN

NBN

nibrin
OMIM: 602667, Gene2Phenotype

22 panels

Panel Reviews Mode of inheritance Details
22 panels

Green NBN in Bone Marrow Failure


Level 2: Haematological disorders
Version 1.93

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 1.19

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 1.1902

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 1.269

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 0.522

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

Green NBN in Combined Immunodeficiency


Level 2: Immunological disorders
Version 1.66

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

    Green NBN in Homologous_recombination_deficiency_WTS_UMCCR


    Level 2: Cancer
    Version 0.43

    		review Unknown
    Sources
    • Literature
    • Expert Review Green
    Tags
    • umccr

    Amber NBN in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

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

    Red NBN in CGC_86


    Version 0.2

    		review Other
    Sources
    • CGC_86
    Phenotypes
    • Microcephaly, normal intelligence and immunodeficiency

    Red NBN in NCGC


    Version 0.2

    		review Other
    Sources
    • NCGC
    Phenotypes
    • Microcephaly, normal intelligence and immunodeficiency

    Red NBN in TCGA_PANCAN_2018


    Version 0.2

    		review Other
    Sources
    • TCGA_PANCAN_2018
    Phenotypes
    • Microcephaly, normal intelligence and immunodeficiency

    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 0.328

    		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 0.252

    		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 1.255

    		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 1.9

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

    Red NBN in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.114

    		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 1.1

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