This Panel is marked as Internal
Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria
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
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Details
- Sources
-
- Expert list
- Phenotypes
-
- Fanconi anemia
- OMIM
- 300515
- Clinvar variants
- Variants in FANCB
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- VACTERL-like phenotypes
- Non-syndromic familial congenital anorectal malformations
- Limb disorders
- Haematological malignancies cancer susceptibility
- Intellectual disability
- DDG2P
- Cytopenias and congenital anaemias
- COVID-19 research
- Pigmentary skin disorders
- 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
- IUGR and IGF abnormalities
- Childhood solid tumours
History Filter Activity
19 Nov 2015, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)FANCB was created by ellenmcdonagh
19 Nov 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)FANCB was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Sources: Expert list