Fanconi anemia complementation group B
OMIM: 300515, Gene2Phenotype
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FANCB in Radial dysplasia
Level 3: Dysmorphic disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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FANCB in Haematological malignancies for rare disease
Level 3: Tumour syndromes
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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FANCB in Head and neck cancer pertinent cancer susceptibility
Level 3: Pertinent cancer susceptibility gene panel
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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FANCB in IUGR and IGF abnormalities
Level 3: Growth hormone disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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FANCB in Neurofibromatosis Type 1
Level 3: Muscle and nerve
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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FANCB in COVID-19 research
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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FANCB in VACTERL-like phenotypes
Level 3: Limb disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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FANCB in Hydrocephalus
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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FANCB in Childhood solid tumours
Level 3: Childhood Tumours
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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FANCB in Limb disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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FANCB in Pigmentary skin disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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FANCB in Cytopenias and congenital anaemias
Level 3: Anaemias and red cell disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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FANCB in Childhood solid tumours cancer susceptibility
Level 3: Pertinent cancer susceptibility gene panel
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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FANCB in Adult solid tumours cancer susceptibility
Level 3: Pertinent cancer susceptibility gene panel
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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FANCB in Haematological malignancies cancer susceptibility
Level 3: Pertinent cancer susceptibility gene panel
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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FANCB in Severe microcephaly
Level 3: DNA repair disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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FANCB in Laterality disorders and isomerism
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review | Not set |
Sources
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FANCB in Confirmed Fanconi anaemia or Bloom syndrome
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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FANCB in Non-syndromic familial congenital anorectal malformations
Level 3: Gastrointestinal disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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FANCB in Fetal anomalies
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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FANCB in DDG2P
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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FANCB in Growth failure in early childhood
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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FANCB in Intellectual disability - microarray and sequencing
Level 3: Neurodevelopmental disorders
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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FANCB in Groopman et al 2019 - Genes with diagnostic variants
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review | X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) |
Sources
Phenotypes
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FANCB in Severe Paediatric Disorders
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review | X-LINKED: hemizygous mutation in males, biallelic mutations in females |
Sources
Phenotypes
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