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:

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.