Table 1.

Genetic features of DNA repair and telomere biology disorders

Disorder	Biologic Pathway	Inheritance: Gene(s)
Ataxia telangiectasia	DNA repair checkpoints	AR: ATM
Bloom’s syndrome	Homologous recombination	AR: BLM
Dyskeratosis congenita	Telomere biology	XLR: DKC1 AD: TERC, TERT, TINF2, RTEL1, PARN, NAF1 AR: NOP10, NHP2, TERT, RTEL1, PARN, CTC1, STN1, POT1, WRAP53, ACD,
Fanconi anemia	DNA damage response, especially inter-strand crosslink repair	AR: FANCA, FANCC, FANCD1/BRCA2, FANCD2, FANCE, FANCF, FANCG, FANCI, FANCJ/BRIP1/BACH1, FANCL, FANCM, FANCN/PALB2, FANCO/RAD51C, FANCP/SLX4, FANCQ/XPF/ERCC4, FANCR/RAD51, FANCES/BRCA1, FANCT/UBE2T, FANCU/XRCC2 REV7/MAD2L2 XLR: FANCB
Nijmegen Breakage Syndrome	DNA double strand break repair	AR: NBN
Rothmund-Thomson syndrome	DNA replication/repair helicase	AR: RECQL4
Xeroderma pigmentosum	Nucleotide excision repair	AR: DDB2, ERCC1, ERCC2, ERCC3, ERCC4, ERCC5, POLH, XPA, or XPC

Abbreviations: AD, autosomal dominant; AR autosomal recessive; XLR, X-linked recessive