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
- Haematological malignancies cancer susceptibility
- Non-syndromic familial congenital anorectal malformations
- Laterality disorders and isomerism
- Cytopenias and congenital anaemias
- Severe microcephaly
- COVID-19 research
- Limb disorders
- Monogenic short stature
- Neurofibromatosis Type 1
- Hydrocephalus
- Childhood solid tumours
- Haematological malignancies for rare disease
- Intellectual disability
- Confirmed Fanconi anaemia or Bloom syndrome
- Pigmentary skin disorders
- Head and neck cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- IUGR and IGF abnormalities
- Fetal anomalies
- 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