This Panel is marked as Retired
Multiple Tumours
Gene: FANCB
FANCB (Fanconi anemia complementation group B)
EnsemblGeneIds (GRCh38): ENSG00000181544
EnsemblGeneIds (GRCh37): ENSG00000181544
OMIM: 300515, Gene2Phenotype
FANCB is in 23 panels
EnsemblGeneIds (GRCh38): ENSG00000181544
EnsemblGeneIds (GRCh37): ENSG00000181544
OMIM: 300515, Gene2Phenotype
FANCB is in 23 panels
2 reviews
Rebecca Foulger (Genomics England curator)
Comment on mode of inheritance: Updated MOI from hemizygous, biallelic to hemizygous monoallelic, after discussion with Helen Brittain. This will ensure a female proband with incomplete X skewing and manifestations can be picked up, in addition to a biallelic case.Created: 29 May 2017, 9:34 a.m.
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:46 a.m.
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 Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Fanconi Anemia (B)
- Myeloid hematological malignancy (leukemia, myelodysplastic syndrome)
- Squamous cell carcinoma (head and neck, esophagus, genital tract)
- Paediatric congenital malformation-dysmorphism-tumour syndromes
- OMIM
- 300515
- Clinvar variants
- Variants in FANCB
- Penetrance
- Complete
- Panels with this gene
-
- DDG2P
- Fetal anomalies
- 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
- Intellectual disability
- Severe microcephaly
- COVID-19 research
- Limb disorders
- Monogenic short stature
- Neurofibromatosis Type 1
- Hydrocephalus
- Childhood solid tumours
- Haematological malignancies for rare disease
- 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
History Filter Activity
29 May 2017, Gel status: 4
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Mode of inheritance for FANCB was changed to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
9 Mar 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)FANCB was added to Multiple Tumourspanel. Source: Expert Review Green
5 Feb 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)FANCB was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)
5 Feb 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)FANCB was created by ellenmcdonagh