RNU7-1: RNU7-1 is a non-coding RNA gene that regulates de novo histone transcription and has been found to have mutations in patients with Aicardi-Goutières syndrome (AGS) [PMC8029610]. Homozygous variants in RNU7-1 have been calculated using gnomAD data, which contains whole-genome sequencing (WGS) data of presumably healthy individuals [PMC9402729]. In RNU7-1 patients, there is a significant increase in the IFN-I-inducible cytokines MCP-1 and CXCL10 in the cerebrospinal fluid (CSF) compartment [PMC9402729]. Mutations in RNU7-1, along with other genes such as LSM11, have been identified as causative agents of AGS [PMC9085217]. Unlike other AGS genes, RNU7-1 and LSM11 do not encode for proteins involved in nucleoside sensing or metabolism [PMC9402729]. Mutations in the 3' stem-loop of RNU7-1 result in a reduced stability of the secondary U7 snRNA structure [PMC9402729]. Biallelic loss-of-function variants in LSM11 and RNU7-1 have been identified as novel genetic causes of AGS interferonopathy [PMC8753955]. Therefore, it is suggested that targeted sequencing or WGS should be included in the diagnostic workup for genetically unexplained AGS cases to identify mutations in RNU7-1 [PMC9402729]. RNU7-1 is located within the first intron or just upstream of C12orf57 gene and can be detected using Sanger sequencing [PMC10160959]