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
ACVR2B	gene	ACVR2B	Expert Review Red;NHS GMS	Laterality disorders and isomerism		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Heterotaxy syndrome Heterotaxy, visceral, 4, autosomal, 613751				9916847		False	1	50;0;50	4.10	False		ENSG00000114739	ENSG00000114739	HGNC:174													
BRWD1	gene	BRWD1	Expert Review Red;Literature	Laterality disorders and isomerism		Respiratory	BIALLELIC, autosomal or pseudoautosomal	Primary ciliary dyskinesia, asthenoteratozoospermia				33389130		False	1	100;0;0	4.10	False		ENSG00000185658	ENSG00000185658	HGNC:12760													
CCNO	gene	CCNO	Expert Review Red;NHS GMS	Laterality disorders and isomerism		Respiratory								False	1	0;0;100	4.10	False		ENSG00000152669	ENSG00000152669	HGNC:18576													
DAND5	gene	DAND5	Literature	Laterality disorders and isomerism		Respiratory	BIALLELIC, autosomal or pseudoautosomal	Heterotaxy syndrome				34215651		False	1	0;0;0	4.10	False		ENSG00000179284	ENSG00000179284	HGNC:26780													
DNAJB13	gene	DNAJB13	Expert Review Red;NHS GMS	Laterality disorders and isomerism		Respiratory								False	1	0;0;100	4.10	False		ENSG00000187726	ENSG00000187726	HGNC:30718													
DRC1	gene	DRC1	Expert Review Red;NHS GMS	Laterality disorders and isomerism		Respiratory								False	1	0;0;100	4.10	False		ENSG00000157856	ENSG00000157856	HGNC:24245													
GAS8	gene	GAS8	Expert Review Red;NHS GMS	Laterality disorders and isomerism		Respiratory								False	1	0;0;100	4.10	False		ENSG00000141013	ENSG00000141013	HGNC:4166													
HYDIN	gene	HYDIN	Expert Review Red;NHS GMS	Laterality disorders and isomerism		Respiratory								False	1	0;0;100	4.10	False		ENSG00000157423	ENSG00000157423	HGNC:19368													
LETM1	gene	LETM1	Expert Review Red;NHS GMS	Laterality disorders and isomerism		Respiratory	BIALLELIC, autosomal or pseudoautosomal	Neurodegeneration, childhood-onset, with multisystem involvement due to mitochondrial dysfunction, OMIM:620089				36055214;33815143		False	1	0;0;100	4.10	False		ENSG00000168924	ENSG00000168924	HGNC:6556													
MYH6	gene	MYH6	Expert Review Red;NHS GMS	Laterality disorders and isomerism		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	visceral heterotaxy, MONDO:0018677				20656787;29969989;15735645		False	1	0;50;50	4.10	False		ENSG00000197616	ENSG00000197616	HGNC:7576													
NME8	gene	NME8	Expert Review Red;NHS GMS	Laterality disorders and isomerism		Respiratory	BIALLELIC, autosomal or pseudoautosomal					17360648		False	1	50;0;50	4.10	False		ENSG00000086288	ENSG00000086288	HGNC:16473													
NODAL	gene	NODAL	Expert Review Red;NHS GMS	Laterality disorders and isomerism		Respiratory	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Heterotaxy, visceral, 5, 270100				19064609;9354794		False	1	50;0;50	4.10	False		ENSG00000156574	ENSG00000156574	HGNC:7865													
NSD2	gene	NSD2	Expert Review Red;NHS GMS	Laterality disorders and isomerism		Respiratory		Rauch-Steindl syndrome, OMIM:619695;Rauch-Steindl syndrome, MONDO:0859219						False	1	0;0;100	4.10	False		ENSG00000109685	ENSG00000109685	HGNC:12766													
RSPH1	gene	RSPH1	Expert Review Red;NHS GMS	Laterality disorders and isomerism		Respiratory								False	1	0;0;100	4.10	False		ENSG00000160188	ENSG00000160188	HGNC:12371													
RSPH3	gene	RSPH3	Expert Review Red;NHS GMS	Laterality disorders and isomerism		Respiratory								False	1	0;0;100	4.10	False		ENSG00000130363	ENSG00000130363	HGNC:21054													
RSPH4A	gene	RSPH4A	Expert Review Red;NHS GMS	Laterality disorders and isomerism		Respiratory								False	1	0;0;100	4.10	False		ENSG00000111834	ENSG00000111834	HGNC:21558													
RSPH9	gene	RSPH9	Expert Review Red;NHS GMS	Laterality disorders and isomerism		Respiratory								False	1	0;0;100	4.10	False		ENSG00000172426	ENSG00000172426	HGNC:21057