For example, in a proband with a clinical diagnosis of autosomal recessive Alstrom syndrome (ALMS; OMIM: #203800) and only a single paternally inherited stop-gain variant, targeted LRS identified an Alu insertion in exon 20 of ALMS1 as a second missing pathogenic variant [15] (Table 1). The gene discussed is ALMS1; the disease is Alstrom syndrome.