CHEK2: CanVIG-UK Gene-Specific Guidance
Year: 2024
Type: other
Abstract: CanVIG-UK review of CHEK2 10/05/2024: Consensus to use relevant recommendations from the ClinGen ATM VCEP guidance, v1.3.0 (attached and also available at: https://clinicalgenome.org/affiliation/50039/) for CHEK2 variants reported under indication R208 of the UK Genomic Test Directory. This scope of this test indication currently includes truncating variants (defined as: nonsense, frameshift and canonical splice site (+/- 1/2) variants) and CHEK2 c.349A>G p.(Arg117Gly).For use in conjunction with the ClinGen ATM VCEP Guidance. Evidence lines for which there are no gene specific recommendations should be reviewed in context of the ClinGen ATM VCEP Guidance.
Authors: Garrett, Alice, Allen, Sophie, Loong, Lucy, Durkie, Miranda, Burghel, George J, Robinson, Rachel, Callaway, Alison, Field, Joanne, Frugtniet, Bethan, Palmer-Smith, Sheila, Grant, Jonathan, Pagan, Judith, McDevitt, Trudi, Hughes, Lowri, Snape, Katie, McVeigh, Terri, Hanson, Helen, Turnbull, Clare, CanVIG-UK
Institutions: Institute of Cancer Research, St George’s University Hospitals NHS Foundation Trust, Sheffield Children's NHS Foundation Trust, Sheffield Children's Hospital, University of Manchester, Manchester University NHS Foundation Trust, Leeds Teaching Hospitals NHS Trust, University Hospital Southampton NHS Foundation Trust, Nottingham University Hospitals NHS Trust, Cardiff and Vale University Health Board, NHS Greater Glasgow and Clyde, Queen Elizabeth University Hospital, Western General Hospital, Children's Health Ireland at Crumlin, Birmingham Women’s and Children’s NHS Foundation Trust, Royal Marsden NHS Foundation Trust, University of Exeter, Royal Devon University Healthcare NHS Foundation Trust
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W6911935133
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