Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria
Gene: FANCCEnsemblGeneIds (GRCh38): ENSG00000158169
EnsemblGeneIds (GRCh37): ENSG00000158169
OMIM: 613899, Gene2Phenotype
FANCC is in 21 panels
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Details
- Sources
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- Expert list
- Phenotypes
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- Fanconi anemia
- OMIM
- 613899
- Clinvar variants
- Variants in FANCC
- Penetrance
- Complete
- Panels with this gene
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- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Cytopenias and congenital anaemias
- Primary ovarian insufficiency
- COVID-19 research
- Fanconi anaemia or Bloom syndrome
- Pigmentary skin disorders
- Neurofibromatosis Type 1
- Severe microcephaly
- Haematological malignancies for rare disease
- Sarcoma susceptibility
- Head and neck cancer pertinent cancer susceptibility
- IUGR and IGF abnormalities
- Fetal anomalies
- Childhood solid tumours
- DDG2P
- Monogenic short stature
- Limb disorders
- Intellectual disability
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
History Filter Activity
Created
Ellen McDonagh (Genomics England Curator)FANCC was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)FANCC was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Sources: Expert list