Pigmentary skin disorders
Gene: RAD51CEnsemblGeneIds (GRCh38): ENSG00000108384
EnsemblGeneIds (GRCh37): ENSG00000108384
OMIM: 602774, Gene2Phenotype
RAD51C is in 21 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
?Single case in literature. Amber on FA/Bloom syndrome GMS panelCreated: 12 Dec 2019, 12:23 p.m. | Last Modified: 12 Dec 2019, 12:23 p.m.
Panel Version: 0.25
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO
Publications
Catherine Snow (Genomics England)
Following discussion with the Genomics England clinical team it was agreed that genes associated with Fanconi anaemia should be included on this panel. Therefore added to panel as a Green gene.Created: 2 Dec 2019, 3:48 p.m. | Last Modified: 2 Dec 2019, 3:48 p.m.
Panel Version: 0.22
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert Review
- Phenotypes
-
- FANCONI ANEMIA, COMPLEMENTATION GROUP O
- FANCO
- 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
Added New Source, Set Phenotypes, Set publications, Status Update
Catherine Snow (Genomics England)Source Expert Review Amber was added to RAD51C. Added phenotypes FANCONI ANEMIA, COMPLEMENTATION GROUP O; FANCO for gene: RAD51C Publications for gene RAD51C were changed from to 20400963 Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Added New Source, Status Update
Catherine Snow (Genomics England)Source Expert Review Green was added to RAD51C. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Catherine Snow (Genomics England)gene: RAD51C was added gene: RAD51C was added to Pigmentary skin disorders. Sources: Expert Review Mode of inheritance for gene: RAD51C was set to BIALLELIC, autosomal or pseudoautosomal