Undiagnosed neurocutaneous disorders
Gene: FANCBEnsemblGeneIds (GRCh38): ENSG00000181544
EnsemblGeneIds (GRCh37): ENSG00000181544
OMIM: 300515, Gene2Phenotype
FANCB is in 23 panels
1 review
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, 9:37 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
-
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- 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
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)
Added New Source
Ellen McDonagh (Genomics England Curator)FANCB was added to Undiagnosed neurocutaneous disorderspanel. Source: UKGTN
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)FANCB was added to Undiagnosed neurocutaneous disorderspanel. Source: Emory Genetics Laboratory Model of inheritance for gene FANCB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females
Added New Source
Ellen McDonagh (Genomics England Curator)FANCB was added to Undiagnosed neurocutaneous disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)FANCB was added to Undiagnosed neurocutaneous disorderspanel. Sources: Radboud University Medical Center, Nijmegen
Created
Ellen McDonagh (Genomics England Curator)FANCB was created by ellenmcdonagh