Figure 1.

Molecular findings for 1228 individuals with a confirmed molecular diagnosis for inherited ophthalmic disorders. (A) Eye gene2phenotype (EyeG2P) is a plugin for the Ensembl variant effector enabling automated variant filtering and selection of variants in a disease-causing state (vcf, Variant Call Format). The specific requirements of variants to be retained can be set by the user and, through developments in the G2P software for the work described in this manuscript, can now include predefined lists of genomic variants, including pathogenic variants in ClinVar, variants predicted to impact splicing and complex alleles that comprised variants above the defined variant frequency threshold. (B) The predicted molecular consequences of 1267 variants identified as a cause of disease in 1228 individuals demonstrating the wide range of variant consequences that can be prioritised by EyeG2P (UTR, untranslated region). (C) The number of variants identified as a cause of disease in 166 genes by their proven zygosity. Hemizygous variants are included in the Homozygous display.