Anaemias and red cell disorders
Gene: FANCBEnsemblGeneIds (GRCh38): ENSG00000181544
EnsemblGeneIds (GRCh37): ENSG00000181544
OMIM: 300515, Gene2Phenotype
FANCB is in 23 panels
1 review
BRIDGE consortium (NIHRBR-RD)
Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Fanconi anemia
Publications
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
- Sources
-
- Expert list
- Radboud University Medical Center, Nijmegen
- Illumina TruGenome Clinical Sequencing Services
- Emory Genetics Laboratory
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- 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
-
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- VACTERL-like phenotypes
- Pigmentary skin disorders
- Non-syndromic familial congenital anorectal malformations
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Cytopenias and congenital anaemias
- Limb disorders
- Intellectual disability
- COVID-19 research
- Fanconi anaemia or Bloom syndrome
- Neurofibromatosis Type 1
- Hydrocephalus
- Haematological malignancies for rare disease
- Laterality disorders and isomerism
- Monogenic short stature
- Head and neck cancer pertinent cancer susceptibility
- Fetal anomalies
- IUGR and IGF abnormalities
- Severe microcephaly
- Childhood solid tumours
- DDG2P
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)FANCB was added to Anaemias and red cell disorderspanel. Source: Expert list FANCB was added to Anaemias and red cell disorderspanel. Source: UKGTN
Created
Ellen McDonagh (Genomics England Curator)FANCB was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)FANCB was added to Anaemias and red cell disorderspanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN