The analysis of commercially available ECS layouts on our couple dataset revealed that some conditions were consistently missing across all the gene-panels (S4 Table), including very frequent moderate (e.g. Stargardt disease, ABCA4; MIM:601691) as well as severe conditions (e.g Hemophilia A, F8; MIM: 300841 and Aicardi-Goutieres syndrome, RNASEH2B; MIM: 610326). The gene discussed is RNASEH2B; the disease is Aicardi-Goutieres syndrome.