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):
- New disease gene
- Known disease gene, but new phenotype association or novel allelic disorder
- Known disease gene with difficult to interpret VUS, eg nearby SV, deep intronic SNV
- 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
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)