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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- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Limb disorders
- Adult solid tumours cancer susceptibility
- Monogenic short stature
- Haematological malignancies cancer susceptibility
- Severe microcephaly
- Cytopenias and congenital anaemias
- COVID-19 research
- Confirmed Fanconi anaemia or Bloom syndrome
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Intellectual disability
- Head and neck cancer pertinent cancer susceptibility
- DDG2P
- IUGR and IGF abnormalities
- Childhood solid tumours
- Pigmentary skin disorders
- Fetal anomalies
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