C4B and Singleton-Merten dysplasia: For example, IFIH1, for which a potentially pathogenic CH variant was identified in a single neuroblastoma patient, has been associated with lupus erythematosus (GDA score: 0.7), Aicardi-Goutieres syndrome (GDA score: 0.7), and Singleton-Merten syndrome (GDA score: 0.69) (Piñero et al., 2020).