Submitted 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.

Please follow this link to the submissions portal.

Prof. Bearnard Keavney (Manchester; Cardiovascular GECIP)

Prof. Andrew Wilkie (Oxford; Musculoskeletal GECIP)

Prof. Diana Baralle (Southampton; Quantitative methods, machine learning and functional

genomics GECIP)

Prof. Daniel Gale (UCL; Renal GECIP)

Prof. Damian Smedley (Queen Mary London; IMPC)

Prof. Fowzan Alkuraya (Saudi Arabia; Saudi Human Genome Program)

Prof. Azeez Butali (Iowa; African Craniofacial Anomalies Network)

Prof. Stephen Robertson (Otago NZ; Pediatric genetics; Genomics Aotearoa)