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SFARI Gene: New data release

28 April 2017

Thomas Ried, NCI/Science Source

New data were added to SFARI Gene in March 2017.

Some of the highlights of this data release include:

  • Four genes (KATNAL2, NAA15, RELN and TRIP12) were added to Category 1 of the Gene Scoring Module. Two genes (SCN9A and TNRC6B) were added to Category 2. This brings the total number of autism-risk genes with strong evidence to 65 (i.e., Categories 1 and 2 ranked genes).
  • Seven genes (CNKSR2, HIVEP3, PARD3B, PLXNB1, SLC7A5, SRCAP, and ZC3H4) were added to Category 3, bringing the total number of genes with suggestive evidence for a role in autism to 144.
  • 1 novel copy number variant (CNV) loci was added to the CNV Module, bringing the total number of CNV loci to 2,173.
  • The mouse model dataset has been updated with 62 new models.
  • The rat model dataset has been updated with 35 new models.