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
ACTC1	gene	ACTC1	Expert Review Amber;NHS GMS	Laterality disorders and isomerism		Respiratory								False	2	0;50;50	4.10	False		ENSG00000159251	ENSG00000159251	HGNC:143													
ACTG2	gene	ACTG2	Expert Review Amber;NHS GMS	Laterality disorders and isomerism		Respiratory								False	2	0;50;50	4.10	False		ENSG00000163017	ENSG00000163017	HGNC:145													
CCDC32	gene	CCDC32	Expert Review Amber;Literature	Laterality disorders and isomerism		Respiratory	BIALLELIC, autosomal or pseudoautosomal					32307552		False	2	0;100;0	4.10	False		ENSG00000128891	ENSG00000128891	HGNC:28295													
CCDC65	gene	CCDC65	Expert Review Amber;NHS GMS	Laterality disorders and isomerism		Respiratory	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 27, OMIM:615504				23991085;24094744		False	2	50;50;0	4.10	False		ENSG00000139537	ENSG00000139537	HGNC:29937													
CFC1	gene	CFC1	Expert Review Amber;NHS GMS	Laterality disorders and isomerism		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Heterotaxy, visceral, 2, autosomal, OMIM:605376				11062482;25423076;31633655;18162845		False	2	60;40;0	4.10	False		ENSG00000136698	ENSG00000136698	HGNC:18292													
CRELD1	gene	CRELD1	Expert Review Amber;NHS GMS	Laterality disorders and isomerism		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Atrioventricular septal defect, partial, with heterotaxy syndrome, 606217				12632326		False	2	0;100;0	4.10	False		ENSG00000163703	ENSG00000163703	HGNC:14630													
DNAAF2	gene	DNAAF2	Expert Review Amber;NHS GMS	Laterality disorders and isomerism		Respiratory	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 10, OMIM:612518				19052621;31107948;32638265		False	2	50;50;0	4.10	False		ENSG00000165506	ENSG00000165506	HGNC:20188													
DNAH1	gene	DNAH1	Expert Review Amber;NHS GMS	Laterality disorders and isomerism		Respiratory								False	2	0;100;0	4.10	False		ENSG00000114841	ENSG00000114841	HGNC:2940													
DNAH6	gene	DNAH6	Expert list;Expert Review Amber	Laterality disorders and isomerism		Respiratory	BIALLELIC, autosomal or pseudoautosomal	Heterotaxy;male infertility				26918822		False	2	0;100;0	4.10	False		ENSG00000115423	ENSG00000115423	HGNC:2951													
DNAH8	gene	DNAH8	Expert Review Amber;NHS GMS	Laterality disorders and isomerism		Respiratory								False	2	0;100;0	4.10	False		ENSG00000124721	ENSG00000124721	HGNC:2952													
DNAL1	gene	DNAL1	Expert Review Amber;NHS GMS	Laterality disorders and isomerism		Respiratory	BIALLELIC, autosomal or pseudoautosomal	Ciliary dyskinesia, primary, 16,  614017				21496787		False	2	50;50;0	4.10	False		ENSG00000119661	ENSG00000119661	HGNC:23247													
FANCB	gene	FANCB	Expert Review Amber;NHS GMS	Laterality disorders and isomerism		Respiratory								False	2	0;50;50	4.10	False		ENSG00000181544	ENSG00000181544	HGNC:3583													
LZTFL1	gene	LZTFL1	Expert Review Amber;NHS GMS	Laterality disorders and isomerism		Respiratory								False	2	0;100;0	4.10	False		ENSG00000163818	ENSG00000163818	HGNC:6741													
MNS1	gene	MNS1	Expert Review Amber;Literature	Laterality disorders and isomerism		Respiratory	BIALLELIC, autosomal or pseudoautosomal	Heterotaxy, visceral, 9, autosomal, with male infertility, OMIM: 618948;situs inversus, MONDO:0010029				22396656;30148830;31534215;38920647		False	2	100;0;0	4.10	False		ENSG00000138587	ENSG00000138587	HGNC:29636													
NKX2-5	gene	NKX2-5	Expert Review Amber;NHS GMS	Laterality disorders and isomerism		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	visceral heterotaxy, MONDO:0018677				25742962;26805889;12414819;25118008		False	2	0;67;33	4.10	False		ENSG00000183072	ENSG00000183072	HGNC:2488													
NPHP4	gene	NPHP4	Expert Review Amber;NHS GMS	Laterality disorders and isomerism		Respiratory								False	2	0;100;0	4.10	False		ENSG00000131697	ENSG00000131697	HGNC:19104