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
-
- 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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- Monogenic short stature
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Intellectual disability
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Pigmentary skin disorders
- Cytopenias and congenital anaemias
- COVID-19 research
- Limb disorders
- Severe microcephaly
- Fanconi anaemia or Bloom syndrome
- Fetal anomalies
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Head and neck cancer pertinent cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- IUGR and IGF abnormalities
- Childhood solid tumours
- 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