These include hereditary motor neuropathy [Slc5a7 (Barwick et al., 2012)], congenital myasthenic syndrome (Slc5a7; Bauche et al., 2016), age-related hearing loss (Gabra6; Sun et al., 2014), Canavan disease (Gabra6; Surendran et al., 2003), gout (Abcg2; Yu et al., 2017), pancreatitis (Cldn2; Giri et al., 2016), as well as numerous genes involved in inflammatory and immune disorders. Here, ABCG2 is linked to Congenital myasthenic syndromes.