Table 8.7.1.

Genetic and non-genetic diseases that overlap with the FA phenotype.

		Gene Name	MIM #	References
VATER/VACTERL Association			192350	Weaver et al., 1986
VACTREL-H syndrome			276950	Porteous et al., 1992
Dubowitz syndrome			223370	Tsukahara and Opitz, 1996
Velocardiofacial syndrome (VFCS)			192430	Taddei et al., 2001
Holt-Oram syndrome (HOS)		TBX5	142900	Basson et al., 1999
Thrombocytopenia absent radius syndrome (TAR)		RBM8A	274000	Albers et al., 2012
Baller Gerold syndrome (BGS)		RECQL4	218600	Van Maldergem et al., 2006
Saethre-Chotzen syndrome (SCS)		TWIST1	101400	El Ghouzzi et al., 1997
Diamond-Blackfan anemia (DBA) a		RPS19a	105650	Draptchinskaia, 1999; Gerrard et al., 2013
Shwachman-Diamond syndrome (SDS)		SBDS	260400	Boocock et al., 2003
Nijmengen breakage syndrome (NBS1)		NBN	251260	Varone et al., 1998
Seckel syndrome (SCKL1)		ATR	210600	O’Driscoll et al., 2003
Dyskeratosis congenita (DKC)	DKCXb	DKC1	305000	Heiss et al., 1998, Alder et al., 2013.
	DKCA1c	TERC	127550	Vulliamy et al., 2004, Jongmans et al., 2012
	DKCA2c	TERT	613989	Armanios et al., 2005
	DKCA3c	TINF2	613990	Savage et al., 2008
	DKCB1d	NOLA3/NOP102	224230	Walne et al., 2007
	DKCB5d	RTEL1	615190	Walne et al., 2013

^aDBA is genetically heterogeneous. Genes include RPS19 and other ribosomal protein genes

^bDKC genes participate in regulation of telomere length, and have X-linked, autosomal dominant and autosomal recessive modes of inheritance (reviewed in Bessler et al., 2010).

^cX-linked inheritance

^dAutosomal recessive inheritance

^eAutosomal dominant inheritance