Haematological malignancies for rare disease
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
2 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Demoted from Green to Amber as there is only one case reported to date. Confirmed with Clare Turnbull regarding this change.Created: 22 Aug 2018, 8:02 a.m.
Clare Turnbull (Queen Mary University London)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Curated sources
- Phenotypes
-
- Class: BM failure FA, (typ AR)
- Fanconi anemia
- MDS
- AML
- Bone marrow failure
- Head and neck and anogenital squamous cell cancers, liver cancer, esophageal cancer, Squamous cell carcinoma: oral, GI, vulvar
- OMIM
- 602774
- Clinvar variants
- Variants in RAD51C
- Penetrance
- None
- Publications
- Panels with this gene
-
- Inherited ovarian cancer (without breast cancer)
- Fetal anomalies
- Severe microcephaly
- Childhood solid tumours cancer susceptibility
- Radial dysplasia
- Intellectual disability
- Familial breast cancer
- Ovarian cancer pertinent cancer susceptibility
- Inherited breast cancer and ovarian cancer
- Cytopenias and congenital anaemias
- Limb disorders
- DDG2P
- Haematological malignancies cancer susceptibility
- Pigmentary skin disorders
- COVID-19 research
- Neurofibromatosis Type 1
- Haematological malignancies for rare disease
- Adult solid tumours for rare disease
- Confirmed Fanconi anaemia or Bloom syndrome
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
History Filter Activity
22 Aug 2018, Gel status: 2
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)22nd August 2018: Reviewed by Helen Brittain, and suggested changes approved by Clare Turnbull. Changes made prior to promoting to version 1.
22 Aug 2018, Gel status: 2
Entity classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)Gene: rad51c has been classified as Amber List (Moderate Evidence).
10 Apr 2018, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)RAD51C was added to Haematological malignancies for rare disease panel. Sources: Curated sources,Expert Review Green
10 Apr 2018, Gel status: 4
Created
Ellen McDonagh (Genomics England Curator)RAD51C was created by Ellen McDonagh