Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria
Gene: FANCFEnsemblGeneIds (GRCh38): ENSG00000183161
EnsemblGeneIds (GRCh37): ENSG00000183161
OMIM: 613897, Gene2Phenotype
FANCF is in 20 panels
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Details
- Sources
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- Expert list
- Phenotypes
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- Fanconi anemia
- OMIM
- 613897
- Clinvar variants
- Variants in FANCF
- Penetrance
- Complete
- Panels with this gene
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- Pigmentary skin disorders
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Haematological malignancies cancer susceptibility
- Severe microcephaly
- Cytopenias and congenital anaemias
- COVID-19 research
- Intellectual disability
- Neurofibromatosis Type 1
- Fetal anomalies
- Childhood solid tumours
- Haematological malignancies for rare disease
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Confirmed Fanconi anaemia or Bloom syndrome
- Head and neck cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- IUGR and IGF abnormalities
- Monogenic short stature
- Limb disorders
- DDG2P
History Filter Activity
Created
Ellen McDonagh (Genomics England Curator)FANCF was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)FANCF was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Sources: Expert list