Heterotaxy (Version 1.32)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 62 Entitiess
Green Green List (high evidence)	AL117258.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Heterotaxy, MONDO:0018677 congenital heart defects Tags
Green Green List (high evidence)	ARMC4	1 review 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 Green List (high evidence)	C11orf70	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 38, MIM# 618063 Tags new gene name
Green Green List (high evidence)	C21orf59	1 review 1 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 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 Green List (high evidence)	CCDC114	1 review 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 Green List (high evidence)	CCDC151	1 review 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 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 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 Green List (high evidence)	CFAP45	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Phenotypes 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 Phenotypes Heterotaxy, visceral, 6, autosomal recessive 614779 Tags
Green Green List (high evidence)	CFC1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Heterotaxy, visceral, 2, autosomal 605376 Tags
Green Green List (high evidence)	DAW1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Phenotypes Ciliary dyskinesia, primary, 13, MIM# 613193 Tags
Green 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 612518 Tags
Green 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 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 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 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 Green List (high evidence)	DNAH5	1 review 1 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 Green List (high evidence)	DNAH9	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes 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 Phenotypes 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 Phenotypes Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444 Tags
Green 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 Green List (high evidence)	FOXJ1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	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 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 Phenotypes 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 Phenotypes Ciliary dyskinesia, primary, 39 618254 Tags
Green Green List (high evidence)	LRRC6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 19, MIM# 614935 Tags
Green Green List (high evidence)	MMP21	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Phenotypes Heterotaxy male infertility Heterotaxy, visceral, 9, autosomal, with male infertility, MIM# 618948 Tags
Green 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 Green List (high evidence)	PKD1L1	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes 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 Phenotypes Ciliary dyskinesia, primary, 28 (MIM#615505) Tags
Green Green List (high evidence)	TTC25	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 35 (MIM#617092) Tags new gene name
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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Atrioventricular septal defect, partial, with heterotaxy syndrome 606217 Tags
Amber Amber List (moderate evidence)	DNAH6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Heterotaxy, Azoospermia Tags
Amber 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 Amber List (moderate evidence)	LZTFL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes 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 Phenotypes Heterotaxy, visceral, 5 (MIM#270100) Tags disputed
Amber Amber List (moderate evidence)	NPHP4	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Amber Phenotypes Pleiotropic Heart Malformations (PMID: 22550138) Tags
Red Red List (low evidence)	CCDC65	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Ciliary dyskinesia, primary, 27, MIM# 615504 Tags founder
Red Red List (low evidence)	CCNO	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes 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 Phenotypes ?Ciliary dyskinesia, primary, 37 617577 Tags
Red Red List (low evidence)	DNAH2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Hydrops complex congenital heart disease heterotaxy Tags
Red Red List (low evidence)	DNAJB13	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes 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 Phenotypes Ciliary dyskinesia, primary, 21, MIM# 615294 Tags
Red Red List (low evidence)	GAS8	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Ciliary dyskinesia, primary, 6, MIM# 610852 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Ciliary dyskinesia, primary, 46, MIM# 619436 Tags
Red Red List (low evidence)	TTC21B	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Heterotaxy Tags

Heterotaxy (Version 1.32)

9 reviewers

62 Entities

62 reviewed, 37 green

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