Candidate genes and complexes in telomere disorders
| Genes that cause telomere disorders when defective | Process/complex | Diseases | Process/complex including genes that cause telomeropathies | Candidate genes |
| TIN2 | Shelterin, inhibits TRF1 PARsylation | DKC/HHS/Revesz syndrome | Shelterin | TRF1, TRF2, TIN2, RAP1, TPP1, POT1 |
| RTEL1 | T-loop dissociation, target of cytosolic iron–sulfur protein assembly (CIA) complex | DKC/HHS | CST complex | CTC1, STN1, TEN1 |
| CTC1 | CST complex | Coats Plus | Telomerase | TERT, TERC, Dyskerin, NHP2, NOP10, GAR1 |
| Apollo | Overhang processing | HHS | CIA complex | MMS19, MIP18, CIAO1, IOP1, RTEL1 |
| TERT, TERC, Dyskerin, NHP2, NOP10 | Telomerase | IPF, DKC, aplastic anemia | Apollo | TRF2, FANCD2, Apollo |
| TCAB1 | Cajal body, telomerase assembly | DKC | Cajal body | Coilin, HOT1, TCAB1, Telomerase complex |
| TRF1 regulation | TRF1, TNKS1, TIN2, TNKS1BP1 |
| Genes that cause telomere disorders when defective | Process/complex | Diseases | Process/complex including genes that cause telomeropathies | Candidate genes |
| TIN2 | Shelterin, inhibits TRF1 PARsylation | DKC/HHS/Revesz syndrome | Shelterin | TRF1, TRF2, TIN2, RAP1, TPP1, POT1 |
| RTEL1 | T-loop dissociation, target of cytosolic iron–sulfur protein assembly (CIA) complex | DKC/HHS | CST complex | CTC1, STN1, TEN1 |
| CTC1 | CST complex | Coats Plus | Telomerase | TERT, TERC, Dyskerin, NHP2, NOP10, GAR1 |
| Apollo | Overhang processing | HHS | CIA complex | MMS19, MIP18, CIAO1, IOP1, RTEL1 |
| TERT, TERC, Dyskerin, NHP2, NOP10 | Telomerase | IPF, DKC, aplastic anemia | Apollo | TRF2, FANCD2, Apollo |
| TCAB1 | Cajal body, telomerase assembly | DKC | Cajal body | Coilin, HOT1, TCAB1, Telomerase complex |
| TRF1 regulation | TRF1, TNKS1, TIN2, TNKS1BP1 |
All genes known to cause telomeropathies when defective are listed, as well as the telomere/telomerase-relevant complexes they participate in. Bold indicates a gene known to cause telomeropathies; genes listed without bold are putative candidate genes due to their known interactions. References for complexes not already discussed in the text: CIA complex (Seki et al., 2013), Cajal body proteins (Kappei et al., 2013), and TRF1 regulation (Seimiya and Smith, 2002; Ye and de Lange, 2004). PARsylation, poly(ADP-ribosyl)ation.