Ciliary Dyskinesia (Version 1.40)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 74 Entitiess
Green List (high evidence)	AGR2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Recurrent respiratory infections and failure to thrive with or without diarrhea (RIFTD), MIM#620233 Tags
Green List (high evidence)	ARMC4	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 23, MIM# 615451 Tags new gene name
Green List (high evidence)	C11orf70	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Ciliary dyskinesia, primary, 38 618063 Tags new gene name
Green List (high evidence)	C21orf59	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 26, MIM# 615500 Tags founder new gene name
Green List (high evidence)	CCDC103	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 17, MIM# 614679 Tags founder
Green List (high evidence)	CCDC114	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 20, MIM# 615067 Tags new gene name
Green List (high evidence)	CCDC151	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 30, MIM# 616037 Tags new gene name
Green List (high evidence)	CCDC39	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 14, MIM# 613807 Tags
Green List (high evidence)	CCDC40	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 15, MIM#613808 Tags
Green List (high evidence)	CCDC65	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 27, MIM# 615504 Tags founder
Green List (high evidence)	CCNO	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 29, MIM# 615872 Tags
Green List (high evidence)	CFAP43	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Hydrocephalus, normal pressure, 1 236690 Spermatogenic failure 19 617592 Tags
Green List (high evidence)	CFAP53	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Heterotaxy, visceral, 6, autosomal recessive 614779 Tags
Green List (high evidence)	CFTR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Cystic fibrosis bronchiectasis Tags
Green List (high evidence)	DAW1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Primary ciliary dyskinesia, with or without heterotaxy, MIM#620570 Tags
Green List (high evidence)	DNAAF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 13, MIM# 613193 Tags
Green List (high evidence)	DNAAF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 10, MIM# 612518 Tags
Green List (high evidence)	DNAAF3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 2, MIM# 606763 Tags
Green List (high evidence)	DNAAF4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 25, MIM# 615482 Tags founder SV/CNV
Green List (high evidence)	DNAAF5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 18, MIM# 614874 Tags
Green List (high evidence)	DNAH11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884 Tags
Green List (high evidence)	DNAH17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Phenotypes spermatogenic failure 39 (MONDO:0032845) Tags
Green List (high evidence)	DNAH5	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644) Tags
Green List (high evidence)	DNAH7	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Primary ciliary dyskinesia, MONDO:0016575, DNAH7-related Tags
Green List (high evidence)	DNAH9	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 40, MIM# 618300 Tags
Green List (high evidence)	DNAI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400 Tags
Green List (high evidence)	DNAI2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444 Tags
Green List (high evidence)	DNAJB13	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ciliary dyskinesia, primary, 34 617091 Tags
Green List (high evidence)	DRC1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 21, MIM# 615294 Tags SV/CNV
Green List (high evidence)	EFCAB1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ciliary dyskinesia, primary, 53, MIM# 620642 Tags new gene name
Green List (high evidence)	FOXJ1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Ciliary dyskinesia, primary, 43, MIM# 618699 hydrocephalus chronic destructive airway disease randomization of left/right body asymmetry Tags
Green List (high evidence)	GAS8	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 33, mIM# 616726 Tags
Green List (high evidence)	HYDIN	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 5 (MIM#608647) Tags
Green List (high evidence)	LRRC56	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Ciliary dyskinesia, primary, 39 618254 Tags
Green List (high evidence)	LRRC6	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 19, MIM# 614935 Tags
Green List (high evidence)	MCIDAS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 42 (MIM#618695) Tags
Green List (high evidence)	NEK10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Ciliary dyskinesia, primary, 44, MIM# 618781 Bronchiectasis Tags
Green List (high evidence)	OFD1	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Joubert syndrome 10, MIM 300804 Orofaciodigital syndrome I, MIM 311200 Simpson-Golabi-Behmel syndrome, type 2, MIM 300209 Primary ciliary dyskinesia Tags
Green List (high evidence)	PIH1D3	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 36, X-linked (MIM#300991) Tags
Green List (high evidence)	RPGR	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Retinitis pigmentosa, X-linked, and sinorespiratory infections, with or without deafness, MIM# 300455 Tags
Green List (high evidence)	RSPH1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 24 (MIM#615481) Tags
Green List (high evidence)	RSPH3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 32 (MIM#616481) Tags
Green List (high evidence)	RSPH4A	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 11 (MIM#612649) Tags
Green List (high evidence)	RSPH9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 12 (MIM#612650) Tags
Green List (high evidence)	SCNN1G	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Bronchiectasis with or without elevated sweat chloride 3, MIM# 613071 Tags
Green List (high evidence)	SPAG1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 28 (MIM#615505) Tags
Green List (high evidence)	TP73	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ciliary dyskinesia, primary, 47, and lissencephaly, MIM#619466 Tags
Green List (high evidence)	TTC12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Ciliary dyskinesia Tags
Green List (high evidence)	TTC25	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Ciliary dyskinesia, primary, 35 (MIM#617092) Tags new gene name
Green List (high evidence)	TUBB4B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Primary ciliary dyskinesia, MONDO:0016575, TUBB4B-related Tags
Green List (high evidence)	ZMYND10	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 22, MIM#615444 Tags
Amber List (moderate evidence)	CFAP57	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Van der Woude Syndrome Primary ciliary dyskinesia Tags
Amber List (moderate evidence)	CFAP74	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primary ciliary dyskinesia infertility Tags
Amber List (moderate evidence)	DNAH1	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes ?Ciliary dyskinesia, primary, 37 617577 Spermatogenic failure 18 617576 Tags
Amber List (moderate evidence)	DNAH6	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Heterotaxy, Azoospermia Tags
Amber List (moderate evidence)	DNAH8	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Spermatogenic failure 46, MIM#619095 Asthenozoospermia primary ciliary dyskinesia Tags
Amber List (moderate evidence)	DNAL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 16, MIM# 614017 Tags founder
Amber List (moderate evidence)	GAS2L2	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 41 (MIM # 618449) Tags
Amber List (moderate evidence)	NFKB1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Phenotypes Immunodeficiency, common variable, 12 616576 Tags
Amber List (moderate evidence)	NFKB2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Phenotypes Immunodeficiency, common variable, 10 615577 Tags
Amber List (moderate evidence)	NME5	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Primary ciliary dyskinesia Tags
Amber List (moderate evidence)	PIK3CD	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Amber Phenotypes Immunodeficiency 14 615513 Tags
Amber List (moderate evidence)	PIK3R1	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes ?Agammaglobulinemia 7, autosomal recessive 615214 Immunodeficiency 36 616005 SHORT syndrome 269880 Tags
Amber List (moderate evidence)	SCNN1A	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Phenotypes Bronchiectasis with or without elevated sweat chloride 2 (MIM#613021) MONDO:0013087 Tags
Amber List (moderate evidence)	SCNN1B	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Expert Review Amber Phenotypes Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400) Tags
Amber List (moderate evidence)	SPEF2	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spermatogenic failure 43, MIM#618751 Primary ciliary dyskinesia-like phenotype Tags
Red List (low evidence)	AKNA	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Primary ciliary dyskinesia, MONDO:0016575, AKNA-related Tags
Red List (low evidence)	BRWD1	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Ciliary dyskinesia, primary, 51, MIM# 620438 Tags disputed
Red List (low evidence)	CFAP221	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Primary ciliary dyskinesia Tags
Red List (low evidence)	CFAP54	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hydrocephalus, male infertility, mucus accumulation Tags
Red List (low evidence)	GOLGA3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Primary ciliary dyskinesia Tags
Red List (low evidence)	ITCH	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Autoimmune disease, multisystem, with facial dysmorphism 613385 primary ciliary dyskinesia Tags
Red List (low evidence)	NME8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 6, MIM# 610852 Tags
Red List (low evidence)	STK36	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Phenotypes Ciliary dyskinesia, primary, 46, MIM# 619436 Tags

Ciliary Dyskinesia (Version 1.40)

13 reviewers

74 Entities

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