FANCB

Fanconi anemia complementation group B
OMIM: 300515, Gene2Phenotype

22 panels

Panel Reviews Mode of inheritance Details
22 panels

Green FANCB in Radial dysplasia

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.6

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • Eligibility statement prior genetic testing
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • VACTERL Association with Hydrocephalus
  • VACTERL-Hydrocephalus Syndrome
  • Vacterl Association, X-Linked, With Or Without Hydrocephalus
  • Fanconi Anemia, Complementation Group B
  • Fanconi anemia, complementation group B, 300514
  • Fanconi Anemia, X-Linked
  • Fanconi Anemia Type B

Green FANCB in Haematological malignancies for rare disease

Level 3: Tumour syndromes
Level 2: Tumour syndromes
Version 1.1

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Curated sources
Phenotypes
  • Class: BM failure FA, (typ AR)
  • Fanconi anemia
  • MDS
  • AML
  • Bone marrow failure
  • Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar

Green FANCB in Head and neck cancer pertinent cancer susceptibility

Level 3: Pertinent cancer susceptibility gene panel
Level 2: Cancer Programme
Version 1.0

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert list
Phenotypes
  • Head and neck cancer

Green FANCB in IUGR and IGF abnormalities

Level 3: Growth hormone disorders
Level 2: Endocrine disorders
Version 1.29

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Expert review
Phenotypes
  • Fanconi anemia
  • Fanconi anemia, complementation group B, 300514
  • Fanconi Anemia, X-Linked
  • VACTERL Association with Hydrocephalus

Green FANCB in Neurofibromatosis Type 1

Level 3: Muscle and nerve
Level 2: Tumour syndromes
Version 1.26

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Emory Genetics Laboratory
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fanconi anemia, complementation group B, 300514
  • Fanconi Anemia, X-Linked
  • Fanconi Anemia Type B
  • Fanconi Anaemia

Green FANCB in VACTERL-like phenotypes

Level 3: Limb disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.25

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • VACTERL Association with Hydrocephalus

Green FANCB in Hydrocephalus


Version 2.1

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • Expert Review Green
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
Phenotypes
  • VACTERL Association with Hydrocephalus
  • Vacterl Association, X-Linked, With Or Without Hydrocephalus
  • VACTERLX
  • Fanconi anemia, complementation group B 300514

Green FANCB in Tumour predisposition - childhood onset

Level 3: Childhood Tumours
Level 2: Tumour syndromes
Version 1.36

review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • Expert List
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Fanconi Anemia, Complementation Group C
  • Fanconi Anemia Type B
  • Fanconi Anemia, X-Linked
  • Fanconi anemia, complementation group B, 300514

Green FANCB in Limb disorders


Version 1.61

Component of the following Super Panels:

  • Paediatric disorders v4.401
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Fanconi anemia, complementation group B, 300514
    • VACTERL Association with Hydrocephalus
    • Vacterl Association, X-Linked, With Or Without Hydrocephalus
    • Fanconi Anemia, Complementation Group B
    • VACTERL-Hydrocephalus Syndrome
    • Fanconi Anemia, X-Linked
    • Radial Ray abnormality
    • Fanconi Anemia Type B

    Green FANCB in Cytopenias and congenital anaemias

    Level 3: Anaemias and red cell disorders
    Level 2: Haematological disorders
    Version 1.73

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Emory Genetics Laboratory
    • UKGTN
    • Expert list
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Falcon anemia
    • Fanconi anemia, complementation group B, 300514
    • Fanconi Anemia, X-Linked
    • Fanconi Anemia Type B
    • Fanconi Anaemia

    Amber FANCB in Childhood solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.6

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Amber
    Phenotypes
    • Fanconi anemia, complementation group B, 300514

    Green FANCB in Adult solid tumours cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.7

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Fanconi anemia, complementation group B, 300514

    Green FANCB in Haematological malignancies cancer susceptibility

    Level 3: Pertinent cancer susceptibility gene panel
    Level 2: Cancer Programme
    Version 1.20

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    • Curated sources
    Phenotypes
    • Class: BM failure FA, (typ AR)
    • Fanconi anemia
    • MDS
    • AML
    • Bone marrow failure
    • Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar

    Green FANCB in Severe microcephaly

    Level 3: DNA repair disorders
    Level 2: Dysmorphic and congenital abnormality syndromes
    Version 1.74

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • NHS GMS
    • Other
    • Expert Review Green
    Phenotypes
    • Fanconi anemia, complementation group B, 300514

    Amber FANCB in Laterality disorders and isomerism


    Version 0.51

    review Not set
    Sources
    • Expert Review Amber
    • NHS GMS

    Green FANCB in Confirmed Fanconi anaemia or Bloom syndrome


    Version 1.0

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • North West GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • Expert Review Green
    • Wessex and West Midlands GLH
    Phenotypes
    • Falcon anemia
    • Fanconi Anemia Type B
    • 300514 Fanconi anemia, complementation group B
    • Fanconi Anemia, X-Linked
    • Fanconi Anaemia
    • Fanconi anemia, complementation group B, 300514

    Green FANCB in Non-syndromic familial congenital anorectal malformations

    Level 3: Gastrointestinal disorders
    Level 2: Gastroenterological disorders
    Version 1.6

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • Expert Review Green
    • Expert list
    • UKGTN
    • Literature
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Vacterl Association, X-Linked, With Or Without Hydrocephalus
    • anorectal malformation
    • VACTERL Association with Hydrocephalus
    • Fanconi anemia, complementation group B 300514
    • FANCB-RELATED FANCONI ANEMIA

    Green FANCB in Fetal anomalies


    Version 0.348

    review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • PAGE DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • FANCB-RELATED FANCONI ANEMIA

    Green FANCB in DDG2P


    Version 1.148

    Component of the following Super Panels:

  • Paediatric disorders v4.401
  • review X-LINKED: hemizygous mutation in males, biallelic mutations in females
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • FANCB-RELATED FANCONI ANEMIA 229139

    Green FANCB in Growth failure in early childhood


    Version 1.3

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Green
    Phenotypes
    • Fanconi Anemia Type B
    • VACTERL Association with Hydrocephalus
    • 300514 Fanconi anemia, complementation group B
    • Fanconi Anemia, X-Linked
    • Fanconi Anaemia
    • Fanconi anemia
    • Falcon anemia
    • Fanconi anemia, complementation group B, 300514

    Red FANCB in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 2.1102

    Component of the following Super Panels:

  • Paediatric disorders v4.401
  • White matter disorders - childhood onset v4.233
  • Hypotonic infant with a likely central cause v3.1053
  • review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Red
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Fanconi anaemia complementation group B presenting as X linked VACTERL with hydrocephalus syndrome

    Red FANCB in Groopman et al 2019 - Genes with diagnostic variants


    Version 0.8

    review X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
    Sources
    • Expert Review Red
    • Expert review red
    • Literature
    Phenotypes
    • Congenital or cystic renal disease
    • Fanconi anemia complementation group B
    • MIM 300514