This Panel is marked as Internal
Groopman et al 2019 - Genes with diagnostic variants
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
Eleanor Williams (Genomics England Curator)
From Groopman et al 2019 Table S7. Gene symbol: FANCB; Inheritance: X-linked; Clinical diagnosis: Congenital or cystic renal disease; Genetic diagnosis: Fanconi anemia complementation group B; OMIM phenotype MIM No.: 300514; Number of cases: 1Created: 2 Jul 2019, 9:46 p.m. | Last Modified: 2 Jul 2019, 9:46 p.m.
Panel Version: 0.4
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 Red
- Expert review red
- Literature
- Phenotypes
-
- Congenital or cystic renal disease
- Fanconi anemia complementation group B
- MIM 300514
- OMIM
- 300515
- Clinvar variants
- Variants in FANCB
- Penetrance
- None
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Limb disorders
- Haematological malignancies cancer susceptibility
- Fetal anomalies
- DDG2P
- Cytopenias and congenital anaemias
- COVID-19 research
- Neurofibromatosis Type 1
- Hydrocephalus
- Haematological malignancies for rare disease
- Laterality disorders and isomerism
- Monogenic short stature
- Head and neck cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Severe microcephaly
- Pigmentary skin disorders
- IUGR and IGF abnormalities
- Childhood solid tumours
- Intellectual disability
- Confirmed Fanconi anaemia or Bloom syndrome
History Filter Activity
2 Jul 2019, Gel status: 1
Added New Source
Eleanor Williams (Genomics England Curator)Source Expert Review Red was added to FANCB.
2 Jul 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: FANCB was added gene: FANCB was added to Groopman et al 2019 - Genes with diagnostic variants. Sources: Literature,Expert review red Mode 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) Phenotypes for gene: FANCB were set to Congenital or cystic renal disease; Fanconi anemia complementation group B; MIM 300514