Figure 3.
Genetic etiology of telomere biology disorders: genes and associated inheritance patterns primarily to consider in adults. Depicted are typical age groups for clinical manifestations of each gene and associated inheritance pattern. Yellow shade indicates AD, green AR, and blue X-linked disease. Genes in bold are more frequently reported. For all genes, de novo occurrence is possible but most frequently reported for TINF2 and DKC1. *De novo TINF2 is associated with a severe phenotype and onset in childhood. †The combination of germline variants in TYMS and ENOSF1 appear to follow an AR inheritance but are the result of digenic inheritance.50 There are some pathogenic gene variations in combination with specific inheritance patterns that are to date solely reported in children and therefore not depicted. These include the following genes with the associated inheritance pattern in brackets: POT1 (AR), STN1 (AR), CTC1 (AR), DCLRE1B (AR).

Genetic etiology of telomere biology disorders: genes and associated inheritance patterns primarily to consider in adults. Depicted are typical age groups for clinical manifestations of each gene and associated inheritance pattern. Yellow shade indicates AD, green AR, and blue X-linked disease. Genes in bold are more frequently reported. For all genes, de novo occurrence is possible but most frequently reported for TINF2 and DKC1. *De novo TINF2 is associated with a severe phenotype and onset in childhood. †The combination of germline variants in TYMS and ENOSF1 appear to follow an AR inheritance but are the result of digenic inheritance.50  There are some pathogenic gene variations in combination with specific inheritance patterns that are to date solely reported in children and therefore not depicted. These include the following genes with the associated inheritance pattern in brackets: POT1 (AR), STN1 (AR), CTC1 (AR), DCLRE1B (AR).

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