Pigmentary skin disorders
Gene: FANCBEnsemblGeneIds (GRCh38): ENSG00000181544
EnsemblGeneIds (GRCh37): ENSG00000181544
OMIM: 300515, Gene2Phenotype
FANCB is in 23 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
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, COMPLEMENTATION GROUP B; FANCB
Publications
Catherine Snow (Genomics England)
Following discussion with the Genomics England clinical team it was agreed that genes associated with Fanconi anaemia should be included on this panel. Therefore added to panel as a Green gene.Created: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.
Panel Version: 0.22
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, COMPLEMENTATION GROUP B
- FANCB
- 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
- Severe microcephaly
- Non-syndromic familial congenital anorectal malformations
- Laterality disorders and isomerism
- Intellectual disability
- Pigmentary skin disorders
- Cytopenias and congenital anaemias
- COVID-19 research
- Neurofibromatosis Type 1
- Fetal anomalies
- Hydrocephalus
- Childhood solid tumours
- Haematological malignancies for rare disease
- Monogenic short stature
- Confirmed Fanconi anaemia or Bloom syndrome
- Head and neck cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- IUGR and IGF abnormalities
- Limb disorders
- DDG2P
History Filter Activity
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes FANCB; FANCONI ANEMIA, COMPLEMENTATION GROUP B for gene: FANCB Publications for gene FANCB were changed from to 15502827
Added New Source, Status Update
Catherine Snow (Genomics England)Source Expert Review Green was added to FANCB. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Catherine Snow (Genomics England)gene: FANCB was added gene: FANCB was added to Pigmentary skin disorders. Sources: Expert Review 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)