New Quarterly Data Reports – January 2025

Our latest January 2025 Quarterly Reports feature updated insights from Simons Searchlight participants across 66 genetic communities (full list below).

About This Report

These reports highlight the latest information contributed by families and key findings from the 2024 research surveys. They demonstrate how participation helps researchers gain a deeper understanding of each genetic community and supports progress in scientific discovery.

Find Your Report

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

Share This Resource

Families are encouraged to share these reports with medical providers, educators, and others who may find them helpful.

Keep Contributing

We are grateful to all the families and patient advocacy partners who make this work possible. Your contributions help drive research forward and expand understanding of these genetic conditions. Please don’t forget to check your dashboard regularly for new surveys to help share your knowledge with Simons Searchlight.

Genetic Communities With Reports:

– 15q11.2 BP1-BP2 deletion
– 15q13.3 deletion
– 16p11.2 deletion
– 16p11.2 duplication
– 16p13.11 deletion
– 1q21.1 deletion
– 1q21.1 duplication
– 2p16.3 deletion_NRXN1
– 5p deletion
– 7q11.23 duplication
– ADNP
– ANK2
– ANKRD11
– ARID1B
– ASXL3
– ATRX
– CHAMP1
– CHD2
– CHD8
– CLCN4
– CSNK2A1
– CSNK2B
– CTNNB1
– CUL3
– DEAF1 (Vulto-van Silfout-de Vries syndrome)
– Distal 16p11.2 deletion
– Distal 16p11.2 duplication
– DLG4
– DYNC1H1
– DYRK1A
– EHMT1
– FOXP1
– GRIN1
– GRIN2A
– GRIN2B
– HIVEP2
– HNRNPH2
– IRF2BPL
– KDM6B
– KdVS (17q21.31 del & KANSL1)
– KMT2C
– KMT2E
– MED13L
– MEF2C
– NAA15
– PACS1
– POGZ
– PPP2R1A
– PPP2R5D
– PPP3CA
– SCN2A
– SETBP1
– SETD5
– SLC6A1
– STXBP1
– SYNGAP1
– TANC2
– TBR1
– TLK2
– TRIO
– TRIP12
– WDFY3
– ZNF292

3 new groups:

– AUTS2
– EIF3F
– MED13