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
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