SFARI Gene: July 2020 data release

New data were added to SFARI Gene in July 2020.

Some of the highlights of this data release include:

  • 17 new genes were added to the Human Gene module, bringing the total number to 1,188. In-depth annotation of 584 rare variants and 1,334 common variants was also completed, and 74 new references were added. Noteworthy new genes include: ACTL6B, NOVA2 and SETD1A.
  • No new genes were added to Categories 1 and 2 (high confidence and strong candidate gene categories, respectively) of the Gene Scoring module. All of the new genes were assigned scores in either the S (syndromic), 3 (suggestive evidence) or 3S categories.
  • A total of 7 newly curated references and 43 individual case records were added to the Copy Number Variant (CNV) module, resulting in a total of 634 curated references.
  • The Mouse Models module was updated with data from a total of 11 references. Mouse models derived from new risk genes include: Actl6b, Nr2f1, Rab39b and Sybu.

More detailed information is available here.

Recent News