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
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													
