Congenital Anomalies Cluster Variant of Uncertain Significance Submission

Submitted Variants of Uncertain Significance (VUS) will be assessed by our Clinical Advisory Board (CAB; see below) who will meet at least twice a year.

They will consider and rank the submitted VUS based on the following Congenital Anomalies Cluster priorities (in order of importance):

  1. New disease gene
  2. Known disease gene, but new phenotype association or novel allelic disorder
  3. Known disease gene with difficult to interpret VUS, eg nearby SV, deep intronic SNV
  4. Known disease gene where deep phenotypic investigation of the mouse model could lead to new insights into pathogenic mechanisms
  • Contributing teams are ideally clinically led or with strong clinical engagement, in order to efficiently return diagnostic information and enable further assessment of patient phenotypes.
  • The clinical features of your patient should be present at birth and overlap with the specialities of our developmental biology team: craniofacial, skeletal, heart, neural tube, kidney, ciliopathies.
  • More weight will be given to syndromic conditions to simultaneously study multiple systems in the mouse.

To submit a VUS, please visit the submissions portal.

Prof. Fowzan Alkuraya (Saudi Arabia; Saudi Human Genome Program)
Prof. Diana Baralle (Southampton; Quantitative methods, machine learning and functional genomics GECIP)
Prof. Azeez Butali (Iowa; African Craniofacial Anomalies Network)
Prof. Bearnard Keavney (Manchester; Cardiovascular GECIP)
Prof. Damian Smedley (Queen Mary London; IMPC)
Prof. Stephen Robertson (Otago NZ; Pediatric genetics; Genomics Aotearoa)
Prof. Daniel Gale (UCL; Renal GECIP)
Prof. Andrew Wilkie (Oxford; Musculoskeletal GECIP)