DATA

New List of Genetic Variants in Simons Searchlight

We’ve published a new list of genetic variants in #SimonsSearchlight. This list includes 2,069 individuals with a genetic condition. Additionally, there are new genetic communities on the list with enough people to be released to the research community.

This includes 28 genetic conditions involving the genes:

  • ANK2
  • ASH1L
  • AUTS2
  • CHD3
  • CSNK2B
  • CUL3
  • DDX3X
  • DEAF1
  • DNMT3A
  • EHMT1
  • FOXP1
  • HNRNPU
  • IRF2BPL
  • KDM5B
  • KDM6B
  • KMT2C
  • KMT2E
  • MED13
  • MYT1L
  • NR4A2
  • NRXN1
  • PPP3CA
  • SCN1B
  • SIN3A
  • TANC2
  • TOK1
  • TLK2
  • WDFY3

This is your accomplishment. Kudos to our patient advocacy communities for helping to expand participation in Simons Searchlight.

Keep reading: https://www.sfari.org/resource/simons-searchlight/

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