1. Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, Faculty of Biology, Medicines and Health, The University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Manchester, United Kingdom
2. Medical Research Council (MRC) Human Genetics Unit, Institute of Genetic and Molecular Medicine, University of Edinburgh, Edinburgh, United Kingdom
3. Manchester Centre for Genomic Medicine, Central Manchester University Hospitals National Health Service (NHS) Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, United Kingdom
4. Northern Ireland Regional Genetics Service (NIRGS), Belfast City Hospital, Belfast, United Kingdom
5. Adult Inherited Metabolic Disorders, The Mark Holland Metabolic Unit, Salford Royal Foundation NHS Trust, Salford, United Kingdom
6. Paediatric Ophthalmology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom 7Manchester Royal Eye Hospital, Manchester Academic Health Science Centre, The University of Manchester, Central Manchester Foundation Trust, Manchester, United Kingdom
7. Centre for Inherited Metabolic Disease, Evelina London Children's Healthcare, London, United Kingdom
8. Department of Genetics, Guy's Hospital, Guy's and St. Thomas' NHS Foundation Trust, London, United Kingdom
9. Manchester Centre for Genomic Medicine, Division of Evolution and Genomic Sciences, Faculty of Biology, Medicines and Health, The University of Manchester, Manchester Academic Health Science Centre (MAHSC), Saint Mary's Hospital, Manchester, United Kingdom 3Manchester Centre for Genomic Medicine, Central Manchester University Hospitals National Health Service (NHS) Foundation Trust, MAHSC, Saint Mary's Hospital, Manchester, United Kingdom