Early onset pancytopenia and red cell disorders
Gene: FANCBEnsemblGeneIds (GRCh38): ENSG00000181544
EnsemblGeneIds (GRCh37): ENSG00000181544
OMIM: 300515, Gene2Phenotype
FANCB is in 23 panels
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Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
- Sources
-
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Fanconi anemia
- Fanconi anemia, complementation group B, 300514
- Fanconi Anemia, X-Linked
- Fanconi Anemia Type B
- Fanconi Anaemia
- OMIM
- 300515
- Clinvar variants
- Variants in FANCB
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Severe microcephaly
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Laterality disorders and isomerism
- Cytopenias and congenital anaemias
- Limb disorders
- DDG2P
- Haematological malignancies cancer susceptibility
- Intellectual disability
- Pigmentary skin disorders
- Monogenic short stature
- COVID-19 research
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Hydrocephalus
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours
- Head and neck cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- IUGR and IGF abnormalities
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)FANCB was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)FANCB was added to Early onset pancytopenia and red cell disorderspanel. Source: Emory Genetics Laboratory
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene FANCB was set to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)FANCB was added to Early onset pancytopenia and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)FANCB was added to Early onset pancytopenia and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)FANCB was added to Early onset pancytopenia and red cell disorderspanel. Sources: Expert list