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:

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