This Panel is marked as Internal
Early onset pancytopenia and red cell disorders
Gene: RAD51C
RAD51C (RAD51 paralog C)
EnsemblGeneIds (GRCh38): ENSG00000108384
EnsemblGeneIds (GRCh37): ENSG00000108384
OMIM: 602774, Gene2Phenotype
RAD51C is in 21 panels
EnsemblGeneIds (GRCh38): ENSG00000108384
EnsemblGeneIds (GRCh37): ENSG00000108384
OMIM: 602774, Gene2Phenotype
RAD51C is in 21 panels
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Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Fanconi anemia
- Fanconi anemia, complementation group O, 613390
- {Breast-ovarian cancer, familial, susceptibility to, 3}, 613399
- Fanconi Anemia
- Fanconi Anaemia
- OMIM
- 602774
- Clinvar variants
- Variants in RAD51C
- Penetrance
- Complete
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Inherited breast cancer and ovarian cancer
- Limb disorders
- Inherited ovarian cancer (without breast cancer)
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Severe microcephaly
- Cytopenias and congenital anaemias
- COVID-19 research
- Confirmed Fanconi anaemia or Bloom syndrome
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Intellectual disability
- DDG2P
- Childhood solid tumours
- Pigmentary skin disorders
- Fetal anomalies
History Filter Activity
30 Sep 2015, Gel status: 3
Added New Source
Ellen McDonagh (Genomics England Curator)RAD51C was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
30 Sep 2015, Gel status: 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene RAD51C was set to BIALLELIC, autosomal or pseudoautosomal
30 Sep 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)RAD51C was added to Early onset pancytopenia and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)RAD51C was added to Early onset pancytopenia and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen
30 Sep 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)RAD51C was added to Early onset pancytopenia and red cell disorderspanel. Sources: Expert list