TABLE 1.

List of cilia structure, function, and signaling genes (mentioned in the article), in alphabetical order, that cause cardiac defects when mutated.

Gene symbol	Gene name	First/second‐order cilia gene	Mutant phenotype	Reference
ARMC4	Armadillo repeat containing 4	First order	Laterality defects, cardiac looping defects	(Hjeij et al., 2013; Onoufriadis et al., 2014)
CCDC 40	Coiled‐coil domain containing 40	First order	Laterality defects, cardiac looping defects	(Becker‐Heck et al., 2011; Sugrue & Zohn, 2017)
CCDC151	Coiled‐coil domain containing 151	First order	Laterality defects, dextrocardia, ventricular septal defects	(Hjeij et al., 2014)
CCDC39	Coiled‐coil domain containing 39	First order	Laterality defects, cardiac looping defects	(Solomon et al., 2017)
CRELD1	Cysteine Rich With EGF Like Domains 1	Second order	Atrioventricular septal defects (AVSDs), valve defects	(Beckert et al., 2021, Burnicka‐Turek et al., 2016)
DHH	Desert hedgehog	Second order	Mitral valve prolapse (MVP)	(Fulmer et al., 2020)
DNAAF1	Dynein axonemal assembly factor 1	First order	Laterality defects, cardiac looping defects	(Hartill et al., 2018)
DNAAF3	Dynein axonemal assembly factor 3	First order	Laterality defects, cardiac looping defects	(Mitchison et al., 2012)
DNAH5	Dynein axonemal heavy chain 5	First order	Laterality defects, cardiac looping defects	(Nöthe‐Menchen et al., 2019)
DNAH6	Dynein axonemal heavy chain 6	First order	Laterality defects, cardiac looping defects	(Y. Li et al., 2016)
DNAH7	Dynein axonemal heavy chain 7	First order	Laterality defects, cardiac looping defects	(Y. J. Zhang et al., 2002)
DNAH 10	Dynein axonemal heavy chain 10	First order	Laterality defects, cardiac looping defects	(C. Liu et al., 2018)
DNAH11	Dynein axonemal heavy chain 11	First order	Laterality defects, AVSDs	(Bartoloni et al., 2002; Burnicka‐Turek et al., 2016; Dougherty et al., 2016; S. Liu et al., 2019; Xia et al., 2021)
DNAIC1	Dynein Axonemal Intermediate Chain 1	First order	Laterality defects, cardiac looping defects	(Francis et al., 2012)
DYX1C1(DNAAF4)	Dyslexia Susceptibility 1 Candidate 1	First order	Laterality defects, cardiac looping defects	(Tarkar et al., 2013)
DZIP1	DAZ interacting zinc finger protein 1	First order	MVP	(Toomer et al., 2019)
EXOC5	Exocyst complex component 5	First order	Bicuspid aortic valve disease and aortic stenosis	(Fulmer et al., 2019)
FTM (Rpgrip1l)	Fantom	First order	Laterality defects, cardiac looping defects, AVSD	(Gerhardt et al., 2013; Vierkotten et al., 2007)
GPR22	G protein‐coupled receptor (GPCR) 22	First order	Laterality defects, cardiac looping defects, cardiac edema	(Verleyen et al., 2014)
GRK5	GPCR kinase 5	Second order	Laterality defects, cardiac looping defects, valve development defects	(Burkhalter et al., 2013; Casar Tena et al., 2015)
IFT20	Intraflagellar transport 20	First order	Proepicardial organ and myocardial tissue size defects	(Peralta et al., 2020)
IFT46	Intraflagellar transport 46	First order	Laterality defects, cardiac looping defects	(Lee et al., 2015)
IFT54 (TRAF3IP1)	Intraflagellar transport 54(TRAF3 interacting protein 1)	First order	Proepicardial organ and myocardial tissue size defects	(Peralta et al., 2020)
IFT57	Intraflagellar transport 57	First order	Laterality defects, cardiac looping defects	(Houde et al., 2006)
IFT74	Intraflagellar transport 74	First order	Laterality defects, cardiac looping defects, AVSD, hypoplastic left heart	(Bakey et al., 2023)
IFT88	Intraflagellar transport 88	First order	Laterality defects, cardiac looping defects, outflow tract defects, ventricular trabeculation defects, cardiac cushion EMT defects, valves defects, proepicardial organ and myocardial tissue size defects	(Burns et al., 2019; Clement et al., 2009; Murcia et al., 2000; Peralta et al., 2020; Toomer et al., 2019; Willaredt et al., 2012)
IFT172	Intraflagellar transport 172	First order	Laterality defects, cardiac looping defects	(Gorivodsky et al., 2009)
INVS	Inversin	First order	Laterality defects, cardiac looping defects	(Lowe et al., 1996, Okada et al., 1999; Watanabe et al., 2003; Yokoyama et al., 1993)
KIF3A	kinesin family member 3A	First order	Laterality defects, cardiac looping defects	(Takeda et al., 1999)
KIF3B	kinesin family member 3B	First order	Laterality defects, cardiac looping defects	(Nonaka et al., 1998)
MEGF8	Multiple Epidermal Growth Factor‐like Domains 8	Second order	Laterality defects, cardiac looping defects	(Y. Li et al., 2015; Z. Zhang et al., 2009)
MKS1	MKS Transition Zone Complex Subunit 1	First order	AVSDs	(Burnicka‐Turek et al., 2016; Cui et al., 2011)
MNS1	Meiosis specific nuclear structural 1	First order	Laterality defects	(Ta‐Shma et al., 2018)
PDGFR‐α	Platelet‐derived growth factor receptor‐alpha	Second order	MVP	(Moore et al., 2021)
PKD1	Polycystin 1, transient receptor potential channel interacting	First order	AVSDs, myocardial wall thinning, double‐outlet right ventricle, cardiac valves defects	(Boulter et al., 2001; Juan et al., 2023)
PKD1L1	Polycystin 1 like 1, transient receptor potential channel interacting	First order	Laterality defects, cardiac looping defects, cardiac valve defects	(Field et al., 2011; Juan et al., 2023)
PKD2	Polycystin 2, transient receptor potential cation channel	First order	Laterality defects, cardiac looping defects, cardiac septation defects, cardiac valve defects	(Juan et al., 2023; Pennekamp et al., 2002; G. Wu et al., 2000)
TBC1D32	TBC1 domain family member 32	First order	Laterality defects, cardiac looping defects	(Y. Li et al., 2015)
TCTN2	Tectonic family member 2	First order	Ventricular septal defects	(Sang et al., 2011)
TTC25	Tetratricopeptide repeat domain 25	First order	Laterality defects, cardiac looping defects	(Wallmeier et al., 2016)

Note: First‐order genes are those that encode proteins required to form the cilia, cilia motility, or for cilia cargo transport. Second‐order genes are those that participate in signaling at the cilium or have undefined roles in the cilium.