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
CACNA1S	gene	CACNA1S	Expert list;Expert Review Green	Malignant Hyperthermia Susceptibility		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{Malignant hyperthermia susceptibility 5} MIM#601887			Malignant hyperthermia;HP:0002047; Rhabdomyolysis;HP:0003201	20301325		False	3	100;0;0	1.8	True	Other	ENSG00000081248	ENSG00000081248	HGNC:1397													
RYR1	gene	RYR1	Expert list;Expert Review Green	Malignant Hyperthermia Susceptibility		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	{Malignant hyperthermia susceptibility 1} MIM#145600			Malignant hyperthermia;HP:0002047; Rhabdomyolysis;HP:0003201	20301325		False	3	100;0;0	1.8	True	Other	ENSG00000196218	ENSG00000196218	HGNC:10483													
STAC3	gene	STAC3	Expert list;Expert Review Green	Malignant Hyperthermia Susceptibility		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	"Myopathy, congenital, Baily-Bloch	MIM#255995"			Malignant hyperthermia;HP:0002047; Rhabdomyolysis;HP:0003201	30168660;32898259		False	3	100;0;0	1.8	True		ENSG00000185482	ENSG00000185482	HGNC:28423													
ASPH	gene	ASPH	Expert Review Amber;Literature	Malignant Hyperthermia Susceptibility		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Exertional heat illness;malignant hyperthermia susceptibility, MONDO:0018493, ASPH-related			Malignant hyperthermia;HP:0002047; Rhabdomyolysis;HP:0003201	35697689		False	2	0;100;0	1.8	True		ENSG00000198363	ENSG00000198363	HGNC:757													
ATP2A1	gene	ATP2A1	Expert Review Amber;Literature	Malignant Hyperthermia Susceptibility		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Brody myopathy MIM#601003			Malignant hyperthermia;HP:0002047; Rhabdomyolysis;HP:0003201	32040565		False	2	0;100;0	1.8	True		ENSG00000196296	ENSG00000196296	HGNC:811													
TRPV1	gene	TRPV1	Expert Review Amber;Literature	Malignant Hyperthermia Susceptibility		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Malignant hyperthermia susceptibility			Malignant hyperthermia;HP:0002047; Rhabdomyolysis;HP:0003201	29930394;32471784		False	2	0;50;50	1.8	False		ENSG00000196689	ENSG00000196689	HGNC:12716