New Quarterly Data Reports – August 2024

Our August 2024 quarterly data reports are now available, showcasing updated information on 56 genetic communities, including 5 new groups: DEAF1 (Vulto-van Silfout-de Vries syndrome), TANC2, TLK2, TRIP12 and ZNF292.

These comprehensive reports are made richer by insights from all the families participating in our research program, and we deeply appreciate each contribution. Additionally, this release includes a special spotlight on “Puberty and Development” which highlights key aspects of puberty and development, including how many individuals in the community have started or completed puberty, age at which puberty begins, and related physical changes.

Why is completing research surveys important?

By consistently contributing data, our participants actively contribute to new discoveries about their condition. Together, we can turn limited knowledge into meaningful insights that benefit participants, their families, and future generations.

Check out the genetic communities that received quarterly reports below:

Please note: These reports are generated for communities with at least 10 completed medical history surveys and the special spotlight data is generated when we have enough information from that genetic community to populate that section.

– 15q11.2 BP1-BP2 microdeletion syndrome (Burnside-Butler syndrome)
– 16p11.2 deletion syndrome
– 16p11.2 duplication syndrome
– 16p13.11 deletion syndrome
– 1q21.1 deletion syndrome
– 1q21.1 duplication syndrome
– 2p16.3 deletion syndrome AND NRXN1
– 5p Deletion (Cri-du-chat syndrome)
– 7q11.23 duplication syndrome
– ADNP (Helsmoortel-van der Aa syndrome)
– ANKRD11 (KBG syndrome)
– ARID1B (Coffin-Siris syndrome 1)
– ASXL3 (Bainbridge-Ropers syndrome)
– ATRX (Alpha-thalassemia X-linked intellectual disability syndrome)
– CHAMP1
– CHD2
– CHD8
– CLCN4 (Raynaud-Claes syndrome)
– CSNK2A1 (Okur-Chung Neurodevelopmental Syndrome, OCNDS)
– CSNK2B (CSNK2B Neurodevelopmental Syndrome)
– CTNNB1
– CUL3
– DEAF1 (Vulto-van Silfout-de Vries syndrome)
– 16p11.2 deletion syndrome DISTAL
– 16p11.2 duplication syndrome DISTAL
– DLG4 (DLG4-related Synaptopathy, SHINE syndrome)
– DYNC1H1
– DYRK1A
– FOXP1
– GRIN1
– GRIN2B
– HIVEP2
– HNRNPH2 (Bain Type of X-linked Syndromic Intellectual Disability)
– IRF2BPL
– KDM6B
– KANSL1 (Koolen-De Vries syndrome) AND 17q21.31 deletion syndrome (Koolen-De Vries syndrome)
– KMT2E (O’Donnell-Luria-Rodan syndrome)
– MED13L
– MEF2C
– PACS1 (Schuurs-Hoeijmakers syndrome)
– PPP2R1A
– PPP2R5D (Jordan’s syndrome)
– PPP3CA
– SCN2A-Related Disorders (SRD)
– SETBP1 (Schinzel-Giedion syndrome, SETBP1 Haploinsufficiency Disorder)
– SETD5
– SLC6A1
– STXBP1 (STXBP1 Encephalopathy)
– SYNGAP1
– TANC2
– TBR1
– TLK2
– TRIO
– TRIP12
– WDFY3
– ZNF292

Ready to explore? Find your genetic community and dive into these insightful data reports now.

Are you a researcher who wants access to this data for your own research project or publication? Apply to become an approved SFARI Base user today.

Want to be included in the next quarterly report? Don’t forget to visit your Simons Searchlight dashboard to complete your medical history survey and other research surveys!