Childhood solid tumours
Gene: FANCBEnsemblGeneIds (GRCh38): ENSG00000181544
EnsemblGeneIds (GRCh37): ENSG00000181544
OMIM: 300515, Gene2Phenotype
FANCB is in 23 panels
3 reviews
Ivone Leong (Genomics England Curator)
As discussed at the Genomics Cancer Panel Workshop, 16th July 2019: the group agreed that there is enough evidence to rate this gene green.Created: 2 Aug 2019, 11:03 a.m. | Last Modified: 2 Aug 2019, 11:03 a.m.
Panel Version: 1.27
Lara Hawkes (Genomics England)
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, complementation group B, 300514
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, 9:36 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
-
- NHS GMS
- Expert List
- Expert Review Green
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Fanconi Anemia, Complementation Group C
- Fanconi Anemia Type B
- Fanconi Anemia, X-Linked
- Fanconi anemia, complementation group B, 300514
- OMIM
- 300515
- Clinvar variants
- Variants in FANCB
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Severe microcephaly
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Intellectual disability
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Laterality disorders and isomerism
- Cytopenias and congenital anaemias
- Limb disorders
- DDG2P
- Haematological malignancies cancer susceptibility
- 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, Set Phenotypes
Ivone Leong (Genomics England Curator)Source NHS GMS was added to FANCB. Added phenotypes Fanconi anemia, complementation group B, 300514 for gene: FANCB
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert List was added to FANCB. Rating Changed from Green List (high evidence) to Green List (high evidence)
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)
Gene classified by Genomics England curator
Ellen Thomas (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set Mode of Inheritance
Ellen Thomas (Genomics England Curator)Mode of inheritance for FANCB was changed to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene FANCB was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene FANCB was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Added New Source
Eik Haraldsdottir (Genomics England)FANCB was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: UKGTN
Added New Source
Eik Haraldsdottir (Genomics England)FANCB was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Emory Genetics Laboratory
Set Mode of Inheritance
Eik Haraldsdottir (Genomics England)Model of inheritance for gene FANCB was changed to X-LINKED: hemizygous mutation in males, may be caused by monoallelic mutations in females
Added New Source
Eik Haraldsdottir (Genomics England)FANCB was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Illumina TruGenome Clinical Sequencing Services
Added New Source
Eik Haraldsdottir (Genomics England)FANCB was added to Paediatric congenital malformation-dysmorphism-tumour syndromes panel. Sources: Radboud University Medical Center, Nijmegen