We suggest that extreme caution should be exercised in assigning pathogenicity to ALMS1 missense variants, and, given the overlap in clinical features among different ciliopathies, that wider analysis of a ciliopathy gene panel is warranted in any patient with features thought to denote Alström syndrome but without two convincing loss‐of‐function ALMS1 mutations, especially where the phenotype is atypical or mild. This evidence concerns the gene ALMS1 and Alstrom syndrome.