Radial dysplasia
Gene: FANCBEnsemblGeneIds (GRCh38): ENSG00000181544
EnsemblGeneIds (GRCh37): ENSG00000181544
OMIM: 300515, Gene2Phenotype
FANCB is in 23 panels
4 reviews
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Sufficient cases for causation from reviews. Causes FA and therefore radial dysplasia is an associated phenotypeCreated: 11 May 2017, 9:41 a.m.
Rebecca Foulger (Genomics England curator)
Comment when marking as ready: Relevant phenotype and sufficient cases to support causation.Created: 9 Mar 2017, 11:36 a.m.
Comment on list classification: Kept rating as Green: Confirmed DD-G2P FA gene. >3 unrelated cases.Created: 9 Mar 2017, 11:35 a.m.
Louise Daugherty (Genomics England Curator)
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
Falcon anemia; Fanconi anemia, complementation group B, 300514; Fanconi Anemia, X-Linked; Fanconi Anemia Type B; Fanconi Anaemia
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 Review Green
- Expert list
- Radboud University Medical Center, Nijmegen
- Eligibility statement prior genetic testing
- UKGTN
- Emory Genetics Laboratory
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- VACTERL Association with Hydrocephalus
- VACTERL-Hydrocephalus Syndrome
- Vacterl Association, X-Linked, With Or Without Hydrocephalus
- Fanconi Anemia, Complementation Group B
- Fanconi anemia, complementation group B, 300514
- Fanconi Anemia, X-Linked
- Fanconi Anemia Type B
- OMIM
- 300515
- Clinvar variants
- Variants in FANCB
- Penetrance
- Complete
- Publications
- 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
panel promoted to version 1
Rebecca Foulger (Genomics England curator)23.05.2017: Panel revised and approved to Version 1.0 after expert review.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for FANCB were set to 15502827
Upload gene information
Rebecca Foulger (Genomics England curator)FANCB was added to Radial dysplasiapanel. Sources: Expert list
Set Mode of Inheritance
Rebecca Foulger (Genomics England curator)Model of inheritance for gene FANCB was set 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
Rebecca Foulger (Genomics England curator)FANCB was added to Radial dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Rebecca Foulger (Genomics England curator)FANCB was added to Radial dysplasiapanel. Source: Eligibility statement prior genetic testing
Added New Source
Rebecca Foulger (Genomics England curator)FANCB was added to Radial dysplasiapanel. Source: UKGTN
Added New Source
Rebecca Foulger (Genomics England curator)FANCB was added to Radial dysplasiapanel. Source: Emory Genetics Laboratory
Created
Rebecca Foulger (Genomics England curator)FANCB was created by rfoulger
Added New Source
Rebecca Foulger (Genomics England curator)FANCB was added to Radial dysplasiapanel. Sources: Illumina TruGenome Clinical Sequencing Services