Heterotaxy (Version 2.0)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 67 Entitiess
Green Green List (high evidence)	CCDC39	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 14, MIM# 613807 Tags
Green Green List (high evidence)	CCDC40	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 15, MIM#613808 Tags
Green Green List (high evidence)	CFAP298	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 26, MIM# 615500 Tags founder new gene name
Green Green List (high evidence)	CFAP300	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 38, MIM# 618063 Tags new gene name
Green Green List (high evidence)	CFAP45	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Heterotaxy, visceral, 11, autosomal, with male infertility, MIM#619608 Tags
Green Green List (high evidence)	CFAP52	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Heterotaxy, visceral, 10, autosomal, with male infertility, MIM#619607 Tags
Green Green List (high evidence)	CFAP53	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Heterotaxy, visceral, 6, autosomal recessive 614779 Tags
Green Green List (high evidence)	CFAP74	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations ciliary dyskinesia, primary, 49, without situs inversus MONDO:0859353 Tags
Green Green List (high evidence)	CFC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Heterotaxy, visceral, 2, autosomal 605376 Tags
Green Green List (high evidence)	CIROP	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Heterotaxy, MONDO:0018677 congenital heart defects Tags
Green Green List (high evidence)	CIROZ	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Heterotaxy, visceral, MONDO:0018677, CIROZ-related Tags new gene name
Green Green List (high evidence)	CLXN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Ciliary dyskinesia, primary, 53, MIM# 620642 Tags new gene name
Green Green List (high evidence)	DAW1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Primary ciliary dyskinesia, with or without heterotaxy, MIM#620570 Tags
Green Green List (high evidence)	DNAAF1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 13, MIM# 613193 Tags
Green Green List (high evidence)	DNAAF11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 19, MIM# 614935 Tags
Green Green List (high evidence)	DNAAF19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 17, MIM# 614679 Tags founder
Green Green List (high evidence)	DNAAF2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 10 612518 Tags
Green Green List (high evidence)	DNAAF3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 2, MIM# 606763 Tags
Green Green List (high evidence)	DNAAF4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 25, MIM# 615482 Tags founder SV/CNV
Green Green List (high evidence)	DNAAF5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 18, MIM# 614874 Tags
Green Green List (high evidence)	DNAAF6	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 36, X-linked (MIM#300991) Tags new gene name
Green Green List (high evidence)	DNAH11	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884 Tags
Green Green List (high evidence)	DNAH5	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644) Tags
Green Green List (high evidence)	DNAH9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Ciliary dyskinesia, primary, 40 618300 Tags
Green Green List (high evidence)	DNAI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400 Tags
Green Green List (high evidence)	DNAI2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444 Tags
Green Green List (high evidence)	FOXJ1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Disease associations Ciliary dyskinesia, primary, 43, MIM#618699 Hydrocephalus chronic destructive airway disease randomization of left/right body asymmetry Tags
Green Green List (high evidence)	GDF1	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Congenital heart defects, multiple types, 6 613854 Right atrial isomerism (Ivemark) 208530 Tags
Green Green List (high evidence)	LRRC56	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Ciliary dyskinesia, primary, 39 618254 Tags
Green Green List (high evidence)	MMP21	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Heterotaxy, visceral, 7, autosomal,MIM# 616749 Tags
Green Green List (high evidence)	MNS1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Heterotaxy male infertility Heterotaxy, visceral, 9, autosomal, with male infertility, MIM# 618948 Tags
Green Green List (high evidence)	ODAD1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 20, MIM# 615067 Tags new gene name
Green Green List (high evidence)	ODAD2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 23, MIM# 615451 Tags new gene name
Green Green List (high evidence)	ODAD3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 30, MIM# 616037 Tags new gene name
Green Green List (high evidence)	ODAD4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 35 (MIM#617092) Tags new gene name
Green Green List (high evidence)	PKD1L1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Heterotaxy, visceral, 8, autosomal (MIM#617205) heterotaxy and congenital heart disease without pulmonary ciliary dyskinesia Tags
Green Green List (high evidence)	SPAG1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 28 (MIM#615505) Tags
Green Green List (high evidence)	ZIC3	1 review 1 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 Expert Review Green Disease associations Heterotaxy, visceral, 1, X-linked (MIM#306955) Tags
Green Green List (high evidence)	ZMYND10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 22, MIM#615444 Tags
Amber Amber List (moderate evidence)	ARL2BP	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Retinitis pigmentosa with or without situs inversus MIM#615434 Tags
Amber Amber List (moderate evidence)	BCL9L	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Literature Other Disease associations Heterotaxy Congenital Heart Disease Tags
Amber Amber List (moderate evidence)	CRELD1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Disease associations Atrioventricular septal defect, partial, with heterotaxy syndrome 606217 Tags
Amber Amber List (moderate evidence)	DAND5	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Heterotaxy, visceral, 13, autosomal, MIM# 621079 Tags
Amber Amber List (moderate evidence)	DNAL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 16, MIM# 614017 Tags founder
Amber Amber List (moderate evidence)	LZTFL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Disease associations Bardet-Biedl syndrome 17 (MIM#615994) Tags
Amber Amber List (moderate evidence)	NODAL	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Amber Disease associations Heterotaxy, visceral, 5 (MIM#270100) Tags disputed
Red Red List (low evidence)	CCDC57	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Visceral heterotaxy, MONDO:0018677, CCDC57-related Tags
Red Red List (low evidence)	CCNO	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 29, MIM# 615872 Tags
Red Red List (low evidence)	DNAH1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red Disease associations Primary ciliary dyskinesia 7, MONDO:0012748 Tags
Red Red List (low evidence)	DNAH2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Hydrops complex congenital heart disease heterotaxy Tags
Red Red List (low evidence)	DNAH6	3 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Heterotaxy, Azoospermia Tags disputed
Red Red List (low evidence)	DNAJB13	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 34, MIM# 617091 Tags
Red Red List (low evidence)	DRC1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 21, MIM# 615294 Tags
Red Red List (low evidence)	DRC2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 27, MIM# 615504 Tags founder
Red Red List (low evidence)	DRC4	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 33, MIM# 616726 Tags
Red Red List (low evidence)	HYDIN	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 5 (MIM#08647) Tags
Red Red List (low evidence)	MCIDAS	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 42 (MIM#618695) Tags
Red Red List (low evidence)	NME8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 6, MIM# 610852 Tags disputed
Red Red List (low evidence)	NPHP4	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Red Disease associations Pleiotropic Heart Malformations (PMID: 22550138) Tags
Red Red List (low evidence)	RPGR	1 review 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Retinitis pigmentosa 3 (MIM#300029) Tags
Red Red List (low evidence)	RSPH1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 24 (MIM#615481) Tags
Red Red List (low evidence)	RSPH3	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 32 (MIM#616481) Tags
Red Red List (low evidence)	RSPH4A	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 11 (MIM#612649) Tags
Red Red List (low evidence)	RSPH9	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 12 (MIM#612650) Tags
Red Red List (low evidence)	STK36	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Disease associations Ciliary dyskinesia, primary, 46, MIM# 619436 Tags
Red Red List (low evidence)	TMBIM4	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Visceral heterotaxy MONDO:0018677, TMBIM4-related Tags
Red Red List (low evidence)	TTC21B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Heterotaxy Tags

Heterotaxy (Version 2.0)

11 reviewers

67 Entities

67 reviewed, 39 green

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