New data were added to SFARI Gene in April 2020.

Some of the highlights of this data release include:

• 30 new genes were added to the Human Gene module, bringing the total number of genes to 1171. In depth annotation of 641 rare variants and 1331 common variants was also completed, and 74 new references were added. Noteworthy genes added include AP2S1, CORO1A, GABRB2, GFAP, GNAI1, KIAA0232, LDB1, LRRC4C, MAP1A, MKX, NCOA1, NUP155, PHF12, PPP1R9B, PPP5C, SATB1, SKI, SRPRA, TEK, TM9SF4, TRIM23, VEZF1, ZMYND8 and UBR1. These genes were extracted from Satterstrom F.K. et al.¹

 

• New syndromic forms of autism are associated with the genes SRPRA, SUPT16H, TET3, YWHAG, ZMIZ1.

 

• Criteria for genes in category 1 of the Gene Scoring module have been revised to include both genes on the SPARK gene list and genes that passed the false discovery rate of 0.1 in Satterstrom F.K. et al.¹

 

• A total of eight newly curated references and 292 individual case records were added to the Copy Number Variant (CNV) module, resulting in a total of 619 curated references.

 

• The Mouse Models module was updated with data from a total of 10 references. Mouse models derived from notable autism risk genes included Cntnap2, Pten, Fmr1, Cul3, Pogz, Scn1a, MeCP2 and Shank3.

More information is available here.

1. Satterstrom F.K. et al. Cell 180, 568-584 (2020) PubMed