Table 1. Genes known to cause telomeropathies when defective, as well as the telomere-related processes and protein complexes in which they are involved
Process/protein complexGenesTelomeropathies
Telomerase core componentsTERC            DC, IPF, aplastic anemia, liver disease
TERT            DC, HHS, IPF, aplastic anemia, liver disease
Telomerase biogenesisDKC1            DC, HHS, IPF, aplastic anemia
NOP10            DC, IPF, aplastic anemia
NHP2            DC, IPF, aplastic anemia
Telomerase traffickingTCBA1            DC
Shelterin componentsTIN2            DC, HHS
TPP1            DC, HHS, aplastic anemia
Telomeric DNA synthesisRTEL1            HHS, IPF
CTC1            DC
TERC RNA processingPARN            DC, IPF
NAF1            IPF

The diseases found associated with the mutated genes are indicated (Calado et al., 2009a; Holohan et al., 2014; Glousker et al., 2015; Stanley and Armanios, 2015; Stanley et al., 2016).