Toward robust clinical genome interpretation: Developing a consistent terminology to characterize Mendelian disease-gene relationships—allelic requirement, inheritance modes, and disease mechanisms

. Author manuscript; available in PMC: 2024 Apr 23.

Published in final edited form as: Genet Med. 2023 Nov 17;26(2):101029. doi: 10.1016/j.gim.2023.101029

Figure 2. Matrix of 6 new high-level predicted functional consequences mapped to SO structural consequence terms via a semi-quantitative scale indicating likelihood of each high-level consequence. The semi-quantitative scale is characterized from first principles by expert evaluation.