Limb disorders
Gene: FANCBEnsemblGeneIds (GRCh38): ENSG00000181544
EnsemblGeneIds (GRCh37): ENSG00000181544
OMIM: 300515, Gene2Phenotype
FANCB is in 23 panels
5 reviews
Eleanor Williams (Genomics England Curator)
MOI in OMIM and Gene2Phenotype is XLR/hemizygous, but keeping XLD here as this should catch all cases.Created: 11 Dec 2018, 10:58 a.m.
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
- Victorian Clinical Genetics Services
- Phenotypes
-
- Fanconi anemia, complementation group B, 300514
- VACTERL Association with Hydrocephalus
- Vacterl Association, X-Linked, With Or Without Hydrocephalus
- Fanconi Anemia, Complementation Group B
- VACTERL-Hydrocephalus Syndrome
- Fanconi Anemia, X-Linked
- Radial Ray abnormality
- Fanconi Anemia Type B
- OMIM
- 300515
- Clinvar variants
- Variants in FANCB
- Penetrance
- None
- Publications
- 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
Panel promoted to version 1.0
Eleanor Williams (Genomics England Curator)Rebecca Foulger: Comment on list classification
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Sarah Leigh (Genomics England Curator)Source Expert Review Green was added to FANCB. Mode of inheritance for gene FANCB was changed from to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Added phenotypes Fanconi anemia, complementation group B, 300514; VACTERL Association with Hydrocephalus; Vacterl Association, X-Linked, With Or Without Hydrocephalus; Fanconi Anemia, Complementation Group B; VACTERL-Hydrocephalus Syndrome; Fanconi Anemia, X-Linked; Fanconi Anemia Type B for gene: FANCB Publications for gene FANCB were changed from to 15502827
Added New Source
Ellen McDonagh (Genomics England Curator)FANCB was added to Limb disorders panel. Sources: Victorian Clinical Genetics Services
Created
Ellen McDonagh (Genomics England Curator)FANCB was created by Ellen McDonagh