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. Author manuscript; available in PMC: 2023 Nov 1.
Published in final edited form as: Genet Med. 2022 Sep 9;24(11):2351–2366. doi: 10.1016/j.gim.2022.08.006

Figure 3.

Figure 3.

Diagnostic pathways of 79 individuals prior to their CTNNB1 genetic diagnosis. (A) Standard diagnostic tests performed during diagnostic process. (B) A list of tests to assess suspected, specific genetic diseases that were performed in two or more individuals. (C) A graphical summary of diagnostic pathways of 79 individuals prior to their CTNNB1 genetic diagnosis. Seventy-four single nucleotide variants (SNVs) in CTNNB1 were identified through exome sequencing, targeted next-generation sequencing panels, or genome sequencing. These variants included 31 frameshift, 29 stop-gain, eight canonical splice site, and four missense variants. Two variants (*) were exceptionally identified by targeted sequencing of five intellectual disability genes including CTNNB1.