DATA

New Quarterly Data Reports – October 2024

Feel free to share this resource with medical providers, educators, and family members who might find it helpful.

The Simons Searchlight Team

Our October 2024 Quarterly Reports are packed with fresh information from Simons Searchlight participants on 63 genetic communities (full list at the bottom)!

This includes 7 new groups:

  • 15q13.3 deletion
  • ANK2
  • EHMT1
  • GRIN2A
  • KMT2C
  • NAA15
  • POGZ

Your quarterly report is posted on your Simons Searchlight webpage (find your gene webpage): bit.ly/Genes_We_Study

Feel free to share this resource with medical providers, educators, and family members who might find it helpful.

Please don’t forget to check your dashboard regularly for new surveys to help share your knowledge with Simons Searchlight.

As always, thank you to all the families for your participation – we couldn’t do this without you! A special shoutout to our patient advocacy community partners for their continued support. 

Full list of genetic communities with a new quarterly report:

– 15q11.2 BP1-BP2 deletion
– 16p11.2 deletion
– 16p11.2 duplication
– 16p13.11 deletion
– 1q21.1 deletion
– 1q21.1 duplication
– 2p16.3 deletion
– 5p deletion
– 7q11.23 duplication
– ADNP
– ANKRD11
– ARID1B
– ASXL3
– ATRX
– CHAMP1
– CHD2
– CHD8
– CLCN4
– CSNK2A1
– CSNK2B
– CTNNB1
– CUL3
– DEAF1
– Distal 16p11.2 deletion
– Distal 16p11.2 duplication
– DLG4
– DYNC1H1
– DYRK1A
– FOXP1
– GRIN1
– GRIN2B
– HIVEP2
– HNRNPH2
– IRF2BPL
– KDM6B
– KdVS
– KMT2E
– MED13L
– MEF2C
– PACS1
– PPP2R1A
– PPP2R5D
– PPP3CA
– SCN2A
– SETBP1
– SETD5
– SLC6A1
– STXBP1
– SYNGAP1
– TANC2
– TBR1
– TLK2
– TRIO
– TRIP12
– WDFY3
– ZNF292

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