SFARI Gene release notes for Q4 2020

January 13, 2021

*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 11 new genes were added to the Human Gene module, bringing the total number to 1231, and 54 new references were added. Noteworthy genes added include:

Gene Scoring module

For new genes, a score of 2 was assigned to AGO2, AHNAK, PHF7, MYH9, and BICRA. A score of 2S was assigned to ZMYM2 and NSD2. A score of 3 was assigned to KAT6B, FABP4, and CSNK1G1. For previously scored genes, the following genes have a newly assigned score of 1: PAH, SMARCA4, and SYN1, or 1S: CSNK2A1, MEF2C, MSL3, and SETD1A.

Copy Number Variant (CNV) module

A total of 11 newly curated references and 82 individual case records were added to the CNV module, resulting in a total of 654 curated references.

Animal Models module

The mouse module was updated with data from a total of 10 references. Mouse model annotation highlights include:

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