SFARI Gene release notes for Q2 2020

July 30, 2020

*Notes prepared by Eric Larsen, Senanu Spring-Pearson, Anjali Sarkar, Girish Nagendara, and Sharmila Banerjee-Basu of MindSpec, Inc., and edited by Alan Packer of SFARI.

Human Gene module

A total of 17 new genes were added to the Human Gene module, bringing the total number to 1188. In depth annotation of 584 rare variants and 1334 common variants was also completed, and 74 new references were added. Noteworthy genes added include:

Gene Scoring module

For new genes, a score of S was assigned to NOVA2, RSRC1, GALNT2, FBRSL1, and SOX6. A score of 3 was assigned to SYBU, TFB2M, TBX22, IGF1, ENPP1, SYP, LAS1L, CHM, and XRCC6. A score of 3S was assigned to SETD1A, RIMS2, and POLR3A.

Copy Number Variant (CNV) module

A total of 7 newly curated references and 43 individual case records were added to the CNV module, resulting in a total of 634 curated references.

Animal Models module

The mouse module was updated with data from a total of 11 references. Mouse models derived from new risk genes include: Nr2f1, Actl6b, Sybu, and Rab39b.

Mouse model annotation highlights include:

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