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