Documented SETBP1-HD & SETBP1-related disorders Dashboard

Individuals

sources: publications (Jansen et al., 2021, Morgan et al., 2021, Leonardi et el., 2020, Coe et al., 2014, O’Roak et al., 2012), Simons Searchlight SETBP1 Registry, online archiving systems (clinvar, DECIPHER, and LOVD3 – only those verified as causing a SETBP1-related disorder), & SETBP1 community genetic reports

criteria: loss-of-function SETBP1 variant change or deletion of all/part of the SETBP1 gene, SETBP1 pathogenic variant with unknown molecular impact, SETBP1 community provided SETBP1 variants of uncertain significance
*Only SETBP1 variants are shown on the graphs. Larger SETBP1 deletions and intronic alterations are not shown in the graphs. Variants known to cause Schinzel-Giedion Syndrome (SGS) are not included on this page.

Source: Jay JJ, Brouwer C (2016) Lollipops in the Clinic: Information Dense Mutation Plots for Precision Medicine. PLoS ONE 11(8): e0160519. doi: 10.1371/journal.pone.0160519