Fig. 1: Comparison of genes included in the 3 sources. | Eye

Fig. 1: Comparison of genes included in the 3 sources.

From: Comparison of inherited retinal disease genes covered by two comprehensive genetic testing panels and a widely used online resource

Fig. 1

A Total numbers of genes in each list following curation (exclusion of duplicate or alternative non-approved gene symbols, exclusion of mitochondrial genes, exclusion of loci with causative gene not yet identified). For the MVL (Molecular Vision Laboratory) list, the darker blue portion of the bar denotes those genes also designated “retinal dystrophy” genes on the MVL website (although the full panel interrogates all >1000 genes). B Venn diagram showing extent of overlap. MVL refers to Molecular Vision Laboratory (MVL) “Vision Panel”, Version 21.2 (accessed 8 Dec 2024). PanelApp refers to approved (“green”) genes for retinal disorders in the Genomics England PanelApp Version 7.0 (accessed 8 Dec 2024). RetNet refers to the genes listed in the online “Retinal Information Network” resource (https://retnet.org/ accessed 8 Dec 2024), provided by the Foundation Fighting Blindness, developed by Dr Stephen P. Daiger with ongoing curation by Dr Lori S. Sullivan at the University of Texas-Houston Health Science Center. Curated gene lists are given in Supplementary Tables 1 and 2.

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