I'm trying to make a list of such genes, because they must be tightly regulated. MeCP2 is one - it causes Rett Syndrome with a disabling mutation, but causes MeCP2 duplication syndrome if its copy number has been increased. Anyone know of any others?

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    $\begingroup$ Must this list include only genes where both deletion and duplication have been shown to have disease phenotypes? Can this list also include transcripts with dose-dependent pathologies? i.e. genes for which deviations (both up- and down-regulation) from median expression are deleterious? $\endgroup$ – Dirigible Dec 17 '19 at 16:03
  • $\begingroup$ @Dirigible yes I think that would be interesting to know as well. $\endgroup$ – Mike Flynn Dec 21 '19 at 18:55

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