SFARI Gene release notes for Q3 2020

October 29, 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 32 new genes were added to the Human Gene module, bringing the total number to
1220, and 91 new references were added. Noteworthy genes added include:

Gene Scoring module

For new genes, a score of 2 was assigned to CNOT1, SORCS3, DCC, GALNT10, SCAF4, DDHD2,
FGFR1, and MAPT-AS1. A score of 3 was assigned to PJA1, MSX2, CLIP2, WWP1, FXN, FGF14,
CACNB1, CDON, MYOCD, NXF1, LDLR, MYLK, KNG1, VWA7, NCAPH2, SYCE1, AGAP5, PEBP4,
TNS2, TMEM134, TRAPPC2L, BRINP3, and UNC5D. A score of 3S was assigned to CSNK2A1.

Copy Number Variant (CNV) module

A total of 9 newly curated references and 29 individual case records were added to the CNV
module, resulting in a total of 643 curated references.

Animal Models module

The mouse module was updated with data from a total of 11 references. Mouse model
annotation highlights include:

Submit New Gene

Report an Error

SFARI Gene Update

We are pleased to announce some changes to the ongoing curation of the data in SFARI Gene. In the context of a continued effort to develop the human gene module and its manually curated list of autism risk genes, we are modifying other aspects of the site to focus on the information that is of greatest interest to the research community. The version of SFARI Gene that has been developed until now will be frozen and will remain available as “SFARI Gene Archive”. Please see the announcement for more details.
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