Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria
Gene: RAD51CEnsemblGeneIds (GRCh38): ENSG00000108384
EnsemblGeneIds (GRCh37): ENSG00000108384
OMIM: 602774, Gene2Phenotype
RAD51C is in 21 panels
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Details
- Sources
-
- Expert list
- Phenotypes
-
- Fanconi anemia
- OMIM
- 602774
- Clinvar variants
- Variants in RAD51C
- Penetrance
- Complete
- Panels with this gene
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- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Haematological malignancies cancer susceptibility
- Familial breast cancer
- Severe microcephaly
- Ovarian cancer pertinent cancer susceptibility
- Inherited breast cancer and ovarian cancer
- Intellectual disability
- Pigmentary skin disorders
- Cytopenias and congenital anaemias
- COVID-19 research
- Neurofibromatosis Type 1
- Fetal anomalies
- Childhood solid tumours
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Confirmed Fanconi anaemia or Bloom syndrome
- Adult solid tumours cancer susceptibility
- Limb disorders
- DDG2P
- Inherited ovarian cancer (without breast cancer)
History Filter Activity
Added New Source
Ellen McDonagh (Genomics England Curator)RAD51C was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Sources: Expert list
Created
Ellen McDonagh (Genomics England Curator)RAD51C was created by ellenmcdonagh