Mutated gene | Clinical features | Inheritance |
ACD | Classic DC; Hoyeraal-Hreidarsson syndrome | AD or AR |
CTC1 | Classic DC; Coats plus syndrome | AR |
DKC1 | Classic DC; Hoyeraal-Hreidarsson syndrome | X-linked |
NAF1 | Classic DC | AD |
NHP2 | Classic DC | AR |
NOP10 | Classic DC | AR |
PARN | Classic DC, pulmonary fibrosis, Hoyeraal-Hreidarsson syndrome | AR |
RTEL1 | Classic DC, pulmonary fibrosis, Hoyeraal-Hreidarsson syndrome | AD or AR |
STN1 | Coats plus syndrome | AR |
TERC | Classic DC, pulmonary fibrosis | AD or AR |
TERT | Classic DC, familial melanoma, pulmonary fibrosis | AD or AR |
TINF2 | Classic DC, Hoyeraal-Hreidarsson syndrome, Revesz syndrome | AD |
WRAP53 | Classic DC | AR |
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