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/