Severe microcephaly
Gene: RAD51CEnsemblGeneIds (GRCh38): ENSG00000108384
EnsemblGeneIds (GRCh37): ENSG00000108384
OMIM: 602774, Gene2Phenotype
RAD51C is in 21 panels
3 reviews
Louise Daugherty (Genomics England Curator)
As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene AmberCreated: 29 Jul 2019, 4:18 p.m. | Last Modified: 29 Jul 2019, 4:18 p.m.
Panel Version: 1.62
Rebecca Foulger (Genomics England curator)
Added 'watchlist' tag after demoting RAD51C from Green to Amber on the basis of a single case report.Created: 31 Jul 2017, 7:51 a.m.
Comment on list classification: Changed rating from Green to Amber based on re-evaluation of supporting evidence for Fanconi anaemia. Only 1 reported (biallelic) case supporting the FA phenotype (PMID:20400963). Helen Lindsay (Leeds Genetic Laboratory) also confirmed that there is only 1 reported case in literature and they have not identified any pathogenic mutations in FA patients to date. Agreed with Arianna Tucci and Helen Brittain that RAD51C should therefore be Amber on the basis of this single case report.Created: 31 Jul 2017, 7:51 a.m.
emma baple (South West GMC)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Amber
- Other
- Phenotypes
-
- Fanconi anemia, complementation group O, 613390
- Tags
- OMIM
- 602774
- Clinvar variants
- Variants in RAD51C
- Penetrance
- Complete
- Panels with this gene
-
- Inherited ovarian cancer (without breast cancer)
- 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
- Fetal anomalies
- 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
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to RAD51C.
Gene classified by Genomics England curator
Rebecca Foulger (Genomics England curator)This gene has been classified as Amber List (Moderate Evidence).
panel promoted to version 1
Rebecca Foulger (Genomics England curator)2nd March 2017: Panel review was assessed and panel was revised according to expert review and additional curation. This panel began with an expert gene list from Professor Andrew Jackson (University of Edinburgh) for primary microcephaly (MCPH) and microcephalic primordial dwarfism (MPD). Other disorders are included where microcephaly is a primary feature. Disorders where microcephaly is not the primary presenting feature are not included (e.g. congenital disorders of glycosylation, Proud syndrome, Norrie disease). The panel does not include disorders with a cortical malformation (e.g. lissencephaly) since the Malformations of cortical development' panel would be applied to these patients.
Added New Source
Rebecca Foulger (Genomics England curator)RAD51C was added to Primary Microcephaly - Microcephalic Dwarfism Spectrumpanel. Sources: Other, Expert Review Green
Created
Rebecca Foulger (Genomics England curator)RAD51C was created by rfoulger