Table 2.

Genes associated with primary ciliary dyskinesia

Gene	Inheritance	OMIM gene	OMIM phenotype	OMIM or HGMD phenotype ID	Frequency of biallelic variants in affected unrelated subjects (22)
DNAI1	AR	604366	CILD1	244400	2%-10%
DNAAF3	AR	614566	CILD2	606763	<1%
DNAH5	AR	603335	CILD3	608644	15%-29%
HYDIN	AR	610812	CILD5	608647	<1%
NME8	AR	607421	CILD6	610852	<1%
DNAH11	AR	603339	CILD7	611884	6%-9%
DNAI2	AR	605483	CILD9	612444	2%
DNAAF2	AR	612517	CILD10	612518	<1%-2%
RSPH4A	AR	612647	CILD11	612649	1%-2%
RSPH9	AR	612648	CILD12	612650	<1%
DNAAF1	AR	613190	CILD13	613193	1%-2%
CCDC39	AR	613798	CILD14	613807	4%-9%
CCDC40	AR	613799	CILD15	613808	3%-4%
DNAL1	AR	610062	CILD16	614017	<1%
CCDC103	AR	614677	CILD17	614679	<4%
DNAAF5	AR	614864	CILD18	614874	<1%
LRRC6	AR	614930	CILD19	614935	1%
CCDC114	AR	615038	CILD20	615067	<2%
DRC1	AR	615288	CILD21	615294	<1%
ZMYND10	AR	607070	CILD22	615444	2%-4%
ARMC4	AR	615408	CILD23	615451	<3%
RSPH1	AR	609314	CILD24	615481	2%
C21ORF59	AR	615494	CILD26	615500	<1%
CCDC65	AR	611088	CILD27	615504	<1%
SPAG1	AR	603395	CILD28	615505	<4%
CCNO	AR	607752	CILD29	615872	<1%
CCDC151	AR	615956	CILD30	616037	<3%
CENPF	AR	600236	STROMS	243605	<1%
RSPH3	AR	615876	CILD32	616481	<1%
GAS8	AR	605178	CILD33	616726	/
DNAJB13	AR	610263	CILD34	617091	/
TTC25	AR	617095	CILD35	617092	/
PIH1D3	XLR	300933	CILD36	300991	9.5%
DNAH1	AR	603332	CILD37	617577	<1%
STK36	AR	607652	CILD	1147369503	/

CILD = ciliary dyskinesia, primary; STROMS = Stromme syndrome; AR = autosomal recessive; XLR = X-linked recessive; HGMD = Human Gene Mutation Database (https://portal.biobase-international.com/hgmd/pro/)