IUGR and IGF abnormalities
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
1 review
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Green gene on the Non-Fanconi anaemia gene panel that should also be included on this panel.Created: 7 Jun 2016, 12:27 p.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
- Expert review
- Phenotypes
-
- Fanconi anemia
- Fanconi anemia, complementation group B, 300514
- Fanconi Anemia, X-Linked
- VACTERL Association with Hydrocephalus
- OMIM
- 300515
- Clinvar variants
- Variants in FANCB
- Penetrance
- Complete
- Panels with this gene
-
- Laterality disorders and isomerism
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- VACTERL-like phenotypes
- Limb disorders
- Non-syndromic familial congenital anorectal malformations
- Adult solid tumours cancer susceptibility
- Monogenic short stature
- Haematological malignancies cancer susceptibility
- Severe microcephaly
- Cytopenias and congenital anaemias
- COVID-19 research
- Confirmed Fanconi anaemia or Bloom syndrome
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Intellectual disability
- Hydrocephalus
- Head and neck cancer pertinent cancer susceptibility
- DDG2P
- IUGR and IGF abnormalities
- Childhood solid tumours
- Pigmentary skin disorders
- Fetal anomalies
History Filter Activity
28 Mar 2017, Gel status: 4
Set Mode of Inheritance
Sarah Leigh (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)
7 Jun 2016, Gel status: 4
Set publications
Ellen McDonagh (Genomics England Curator)Publications for FANCB were set to
7 Jun 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
14 May 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)FANCB was added to IUGR and IGF abnormalitiespanel. Sources: Expert review
14 May 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)FANCB was created by ellenmcdonagh