Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name AL117258.1 gene AL117258.1 Expert Review Green;Literature Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Heterotaxy, MONDO:0018677;congenital heart defects Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 34903892 False 3 100;0;0 1.36 True - ENSG00000283654 HGNC:53647 ARMC4 gene ARMC4 Expert Review Green;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 23, MIM# 615451 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 31765523;23849778 False 3 100;0;0 1.36 True ENSG00000169126 ENSG00000169126 HGNC:25583 C11orf70 gene C11orf70 Expert Review Green;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 38, MIM# 618063 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 29727693;29727692 False 3 100;0;0 1.36 True ENSG00000137691 ENSG00000137691 HGNC:28188 C1orf127 gene C1orf127 Expert Review Green;Literature Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, MONDO:0018677, CIROZ-related Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 39753129 False 3 100;0;0 1.36 True ENSG00000175262 ENSG00000175262 HGNC:26730 C21orf59 gene C21orf59 Expert Review Green;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 26, MIM# 615500 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 24094744 False 3 100;0;0 1.36 True ENSG00000159079 ENSG00000159079 HGNC:1301 CCDC103 gene CCDC103 Expert Review Green;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 17, MIM# 614679 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 22581229;32447765;31858719;28790179 False 3 100;0;0 1.36 True ENSG00000167131 ENSG00000167131 HGNC:32700 CCDC114 gene CCDC114 Expert Review Green;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 20, MIM# 615067 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 23261303;23261302;32855706;23506398 False 3 100;0;0 1.36 True ENSG00000105479 ENSG00000105479 HGNC:26560 CCDC151 gene CCDC151 Expert Review Green;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 30, MIM# 616037 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 25192045;25224326;32490514;32286033;30504913 False 3 100;0;0 1.36 True ENSG00000198003 ENSG00000198003 HGNC:28303 CCDC39 gene CCDC39 Expert Review Green;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 14, MIM# 613807 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 21131972;23255504 False 3 100;0;0 1.36 True ENSG00000145075 ENSG00000145075 HGNC:25244 CCDC40 gene CCDC40 Expert Review Green;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 15, MIM#613808 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 21131974;23255504;31879361;31765523;31650533 False 3 100;0;0 1.36 True ENSG00000141519 ENSG00000141519 HGNC:26090 CFAP45 gene CFAP45 Expert Review Green;Literature Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 11, autosomal, with male infertility, MIM#619608 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 33139725 False 3 100;0;0 1.36 True ENSG00000213085 ENSG00000213085 HGNC:17229 CFAP52 gene CFAP52 Expert Review Green;Literature Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 10, autosomal, with male infertility, MIM#619607 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 25469542;33139725 False 3 100;0;0 1.36 True ENSG00000166596 ENSG00000166596 HGNC:16053 CFAP53 gene CFAP53 Expert Review Green;Literature Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 6, autosomal recessive 614779 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 PMID:28621423;22577226;26531781 False 3 100;0;0 1.36 True ENSG00000172361 ENSG00000172361 HGNC:26530 CFC1 gene CFC1 Expert list;Expert Review Green Heterotaxy Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heterotaxy, visceral, 2, autosomal 605376 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 31633655;18162845;25423076;11062482 False 3 100;0;0 1.36 True ENSG00000136698 ENSG00000136698 HGNC:18292 DAW1 gene DAW1 Expert Review Green;Literature Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Primary ciliary dyskinesia, with or without heterotaxy, MIM#620570 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 36074124 False 3 100;0;0 1.36 True ENSG00000123977 ENSG00000123977 HGNC:26383 DNAAF1 gene DNAAF1 Expert Review Green;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 13, MIM# 613193 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 19944400;19944405;32502479;29228333;27261005 False 3 100;0;0 1.36 True ENSG00000154099 ENSG00000154099 HGNC:30539 DNAAF2 gene DNAAF2 Expert Review Green;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 10 612518 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 19052621;31107948 False 3 100;0;0 1.36 True ENSG00000165506 ENSG00000165506 HGNC:20188 DNAAF3 gene DNAAF3 Expert Review Green;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 2, MIM# 606763 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 22387996;32622824;31186518 False 3 100;0;0 1.36 True ENSG00000167646 ENSG00000167646 HGNC:30492 DNAAF4 gene DNAAF4 Expert Review Green;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 25, MIM# 615482 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 23872636 False 3 100;0;0 1.36 True ENSG00000256061 ENSG00000256061 HGNC:21493 DNAAF5 gene DNAAF5 Expert Review Green;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 18, MIM# 614874 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 23040496;29363216;25232951 False 3 100;0;0 1.36 True ENSG00000164818 ENSG00000164818 HGNC:26013 DNAH11 gene DNAH11 Expert Review Green;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 7, with or without situs inversus, MIM#611884 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 12142464;18022865;22102620;32633470;31879361;31765523;31040315 False 3 100;0;0 1.36 True ENSG00000105877 ENSG00000105877 HGNC:2942 DNAH5 gene DNAH5 Expert Review Green;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 3, with or without situs inversus (MIM #608644) Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 16627867 False 3 100;0;0 1.36 True ENSG00000039139 ENSG00000039139 HGNC:2950 DNAH9 gene DNAH9 Expert list;Expert Review Green Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Ciliary dyskinesia, primary, 40 618300" Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 PMID: 30471717;30471718 False 3 100;0;0 1.36 True ENSG00000007174 ENSG00000007174 HGNC:2953 DNAI1 gene DNAI1 Expert Review Green;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 1, with or without situs inversus, MIM# 244400 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 10577904;11231901;32502479;31765523;30622330 False 3 100;0;0 1.36 True ENSG00000122735 ENSG00000122735 HGNC:2954 DNAI2 gene DNAI2 Expert Review Green;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 9, with or without situs inversus, MIM# 612444 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 18950741;23261302 False 3 100;0;0 1.36 True ENSG00000171595 ENSG00000171595 HGNC:18744 EFCAB1 gene EFCAB1 Expert Review Green;Literature Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 53, MIM# 620642 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 PMID: 36727596 False 3 100;0;0 1.36 True ENSG00000034239 ENSG00000034239 HGNC:25678 FOXJ1 gene FOXJ1 Expert Review Green;Literature Heterotaxy Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Ciliary dyskinesia, primary, 43, MIM#618699;Hydrocephalus;chronic destructive airway disease;randomization of left/right body asymmetry Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 PMID 31630787 False 3 100;0;0 1.36 True ENSG00000129654 ENSG00000129654 HGNC:3816 GDF1 gene GDF1 Expert list;Expert Review Green Heterotaxy Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Congenital heart defects, multiple types, 6 613854;Right atrial isomerism (Ivemark) 208530 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 32144877 False 3 100;0;0 1.36 True ENSG00000130283 ENSG00000130283 HGNC:4214 LRRC56 gene LRRC56 Expert list;Expert Review Green Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Ciliary dyskinesia, primary, 39 618254" Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 PMID: 30388400 False 3 100;0;0 1.36 True ENSG00000161328 ENSG00000161328 HGNC:25430 LRRC6 gene LRRC6 Expert Review Green;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 19, MIM# 614935 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 23122589;23891469;32622824;29511670 False 3 100;0;0 1.36 True ENSG00000129295 ENSG00000129295 HGNC:16725 MMP21 gene MMP21 Expert Review Green;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 7, autosomal,MIM# 616749 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 26429889;26437028;26437029 False 3 100;0;0 1.36 True ENSG00000154485 ENSG00000154485 HGNC:14357 MNS1 gene MNS1 Expert Review Green;Literature Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Heterotaxy;male infertility;Heterotaxy, visceral, 9, autosomal, with male infertility, MIM# 618948" Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 31534215;30148830 False 3 100;0;0 1.36 True ENSG00000138587 ENSG00000138587 HGNC:29636 PIH1D3 gene PIH1D3 Expert Review Green;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Ciliary dyskinesia, primary, 36, X-linked (MIM#300991) Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 28041644;24421334;28176794 False 3 100;0;0 1.36 True ENSG00000080572 ENSG00000080572 HGNC:28570 PKD1L1 gene PKD1L1 Expert Review Green;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 8, autosomal (MIM#617205);heterotaxy and congenital heart disease without pulmonary ciliary dyskinesia Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 27616478;30664273;20080492;31026592 False 3 50;50;0 1.36 True ENSG00000158683 ENSG00000158683 HGNC:18053 SPAG1 gene SPAG1 Expert Review Green;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 28 (MIM#615505) Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 24055112;32622824;32502479 False 3 100;0;0 1.36 True ENSG00000104450 ENSG00000104450 HGNC:11212 TTC25 gene TTC25 Expert Review Green;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 35 (MIM#617092) Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 27486780;31765523;33715250;33746037;34215651 False 3 100;0;0 1.36 True ENSG00000204815 ENSG00000204815 HGNC:25280 ZIC3 gene ZIC3 Expert Review;Expert Review Green Heterotaxy Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Heterotaxy, visceral, 1, X-linked (MIM#306955) Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 27406248;30120289 False 3 100;0;0 1.36 True ENSG00000156925 ENSG00000156925 HGNC:12874 ZMYND10 gene ZMYND10 Expert Review Green;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 22, MIM#615444 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 23891471;23891469 False 3 100;0;0 1.36 True ENSG00000004838 ENSG00000004838 HGNC:19412 ARL2BP gene ARL2BP Expert Review Amber;Literature Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa with or without situs inversus MIM#615434 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 PMID: 23849777 False 2 50;50;0 1.36 True ENSG00000102931 ENSG00000102931 HGNC:17146 BCL9L gene BCL9L Expert list;Expert Review Amber;Literature;Other Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Heterotaxy;Congenital Heart Disease Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 23035047;8757136;30366904 False 2 0;100;0 1.36 True ENSG00000186174 ENSG00000186174 HGNC:23688 CRELD1 gene CRELD1 Expert list;Expert Review Amber Heterotaxy Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrioventricular septal defect, partial, with heterotaxy syndrome 606217 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 22740159 False 2 0;100;0 1.36 True ENSG00000163703 ENSG00000163703 HGNC:14630 DAND5 gene DAND5 Expert Review Amber;Literature Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Heterotaxy, visceral, 13, autosomal, MIM# 621079" Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 36316122;34215651 False 2 0;100;0 1.36 True ENSG00000179284 ENSG00000179284 HGNC:26780 DNAH6 gene DNAH6 Expert Review Amber;Literature Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Heterotaxy, Azoospermia Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 PMID: 26918822 False 2 0;100;0 1.36 True ENSG00000115423 ENSG00000115423 HGNC:2951 DNAL1 gene DNAL1 Expert Review Amber;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 16, MIM# 614017 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 21496787 False 2 0;100;0 1.36 True ENSG00000119661 ENSG00000119661 HGNC:23247 LZTFL1 gene LZTFL1 Expert Review;Expert Review Amber Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 17 (MIM#615994) Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 22510444;23692385;27312011;22072986 False 2 0;100;0 1.36 True ENSG00000163818 ENSG00000163818 HGNC:6741 NODAL gene NODAL Expert Review;Expert Review Amber Heterotaxy Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heterotaxy, visceral, 5 (MIM#270100) Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 9354794;19064609;29368431;19933292;11311163;30293987 False 2 0;50;50 1.36 True ENSG00000156574 ENSG00000156574 HGNC:7865 NPHP4 gene NPHP4 Expert Review;Expert Review Amber Heterotaxy Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pleiotropic Heart Malformations (PMID: 22550138) Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 22550138 False 2 0;100;0 1.36 True ENSG00000131697 ENSG00000131697 HGNC:19104 CCDC65 gene CCDC65 Expert Review Red;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 27, MIM# 615504 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 23991085;24094744 False 1 0;0;100 1.36 True ENSG00000139537 ENSG00000139537 HGNC:29937 CCNO gene CCNO Expert Review Red;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 29, MIM# 615872 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 24747639;24824133;31765523 False 1 0;0;100 1.36 True ENSG00000152669 ENSG00000152669 HGNC:18576 DNAH1 gene DNAH1 Expert list;Expert Review Red Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal ?Ciliary dyskinesia, primary, 37 617577 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 PMID: 25927852;24360805 False 1 0;0;100 1.36 True ENSG00000114841 ENSG00000114841 HGNC:2940 DNAH2 gene DNAH2 Expert Review Red;Literature Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Hydrops;complex congenital heart disease;heterotaxy Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 32732226 False 1 0;0;100 1.36 True ENSG00000183914 ENSG00000183914 HGNC:2948 DNAJB13 gene DNAJB13 Expert Review Red;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 34, MIM# 617091 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 27486783 False 1 0;0;100 1.36 True ENSG00000187726 ENSG00000187726 HGNC:30718 DRC1 gene DRC1 Expert Review Red;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 21, MIM# 615294 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 31960620;32108610 False 1 0;0;100 1.36 True ENSG00000157856 ENSG00000157856 HGNC:24245 GAS8 gene GAS8 Expert Review Red;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 33, MIM# 616726 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 False 1 0;0;100 1.36 True ENSG00000141013 ENSG00000141013 HGNC:4166 HYDIN gene HYDIN Expert Review Red;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 5 (MIM#08647) Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 23022101;23849777 False 1 0;0;100 1.36 True ENSG00000157423 ENSG00000157423 HGNC:19368 MCIDAS gene MCIDAS Expert Review Red;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 42 (MIM#618695) Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 25048963 False 1 0;0;100 1.36 True ENSG00000234602 ENSG00000234602 HGNC:40050 NME8 gene NME8 Expert Review Red;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 6, MIM# 610852 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 17360648;31966386 False 1 0;0;100 1.36 True ENSG00000086288 ENSG00000086288 HGNC:16473 RPGR gene RPGR Expert Review Red;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Retinitis pigmentosa 3 (MIM#300029) Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 26093275;31775781 False 1 0;0;100 1.36 True ENSG00000156313 ENSG00000156313 HGNC:10295 RSPH1 gene RSPH1 Expert Review Red;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 24 (MIM#615481) Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 23993197 False 1 0;0;100 1.36 True ENSG00000160188 ENSG00000160188 HGNC:12371 RSPH3 gene RSPH3 Expert Review Red;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 32 (MIM#616481) Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 26073779 False 1 0;0;100 1.36 True ENSG00000130363 ENSG00000130363 HGNC:21054 RSPH4A gene RSPH4A Expert Review Red;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 11 (MIM#612649) Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 25789548 False 1 0;0;100 1.36 True ENSG00000111834 ENSG00000111834 HGNC:21558 RSPH9 gene RSPH9 Expert Review Red;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 12 (MIM#612650) Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 19200523 False 1 0;0;100 1.36 True ENSG00000172426 ENSG00000172426 HGNC:21057 STK36 gene STK36 Expert Review Red;Victorian Clinical Genetics Services Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 46, MIM# 619436 Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 28543983 False 1 0;0;100 1.36 True ENSG00000163482 ENSG00000163482 HGNC:17209 TTC21B gene TTC21B Expert Review Red;Literature Heterotaxy Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Heterotaxy Heterotaxy;HP:0030853; Dextrocardia;HP:0001651; Asplenia;HP:0001746; Abnormal spatial orientation of cardiac segments;HP:0011534; Polysplenia;HP:0001748;Midline liver;HP:0034188 33547761 False 1 0;0;100 1.36 True ENSG00000123607 ENSG00000123607 HGNC:25660