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
CCDC78	gene	CCDC78	Expert;Expert Review Amber;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen	Congenital myopathy		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Myopathy, centronuclear, 4, OMIM:614807				22818856;25635128		False	2	29;43;29	6.45	False		ENSG00000162004	ENSG00000162004	HGNC:14153													
CNTN1	gene	CNTN1	Expert Review Amber;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen	Congenital myopathy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Myopathy, congenital, Compton-North, OMIM:612540				19026398;32779773		False	2	20;60;20	6.45	False		ENSG00000018236	ENSG00000018236	HGNC:2171													
DHX16	gene	DHX16	Expert Review Amber;Literature	Congenital myopathy		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Neuromuscular disease and ocular or auditory anomalies with or without seizures, OMIM:618733				31256877		False	2	0;100;0	6.45	False		ENSG00000204560	ENSG00000204560	HGNC:2739													
DST	gene	DST	Expert Review Amber;Literature	Congenital myopathy		Neurology	BIALLELIC, autosomal or pseudoautosomal	arthrogryposis, MONDO:0859248;cardiomyopathy, MONDO:0004994;congenital myopathy, MONDO:0019952				40497796;35942699		False	2	100;0;0	6.45	False		ENSG00000151914	ENSG00000151914	HGNC:1090													
FLNC	gene	FLNC	Expert Review;Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen	Congenital myopathy		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Myopathy, distal, 4, OMIM:614065;Myopathy, myofibrillar, 5, OMIM:609524				29858533		False	2	0;0;100	6.45	False		ENSG00000128591	ENSG00000128591	HGNC:3756													
LAMP2	gene	LAMP2	Expert Review;Expert Review Amber;London South GLH;NHS GMS	Congenital myopathy		Neurology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Danon disease, OMIM:300257				12084876;21415759		False	2	33;67;0	6.45	True		ENSG00000005893	ENSG00000005893	HGNC:6501													
MTMR14	gene	MTMR14	Expert Review;Expert Review Amber;London South GLH;NHS GMS	Congenital myopathy		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	{Centronuclear myopathy, autosomal, modifier of}, OMIM:160150				19465920		False	2	67;33;0	6.45	True		ENSG00000163719	ENSG00000163719	HGNC:26190													
MT-TA	gene	MT-TA	Expert Review Amber;Literature	Congenital myopathy		Neurology	MITOCHONDRIAL	inborn mitochondrial myopathy, MONDO:0009637				11715067;14569122;17825557		False	2	0;100;0	6.45	False	Other	ENSG00000210127	ENSG00000210127	HGNC:7475													
MT-TG	gene	MT-TG	Expert Review Amber;Literature	Congenital myopathy		Neurology	MITOCHONDRIAL	mitochondrial encephalomyopathy, MONDO:0004675				11971101;16120360		False	2	50;50;0	6.45	False	Other	ENSG00000210164	ENSG00000210164	HGNC:7486													
MT-TP	gene	MT-TP	Expert Review Amber;Literature	Congenital myopathy		Neurology	MITOCHONDRIAL	inborn mitochondrial myopathy, MONDO:0009637				7689388;32305257		False	2	0;100;0	6.45	False	Other	ENSG00000210196	ENSG00000210196	HGNC:7494													
MYBPC3	gene	MYBPC3	Expert Review;Expert Review Amber;London South GLH;NHS GMS	Congenital myopathy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Cardiomyopathy, dilated, 1MM, OMIM:615396;Cardiomyopathy, hypertrophic, 4, OMIM:115197				19858127		False	2	67;33;0	6.45	True		ENSG00000134571	ENSG00000134571	HGNC:7551													
MYF5	gene	MYF5	Expert list;Expert Review Amber;Literature	Congenital myopathy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM:618155				29887215		False	2	0;67;33	6.45	False	Other	ENSG00000111049	ENSG00000111049	HGNC:7565													
NEFL	gene	NEFL	Expert Review Amber;UCL	Congenital myopathy		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Nemaline Myopathy				25264603		False	2	0;0;0	6.45	True		ENSG00000104725	ENSG00000277586	HGNC:7739													
PPA2	gene	PPA2	Expert Review;Expert Review Amber;NHS GMS	Congenital myopathy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Sudden cardiac failure, infantile, OMIM:617222						False	2	0;100;0	6.45	False		ENSG00000138777	ENSG00000138777	HGNC:28883													
SLC25A42	gene	SLC25A42	Expert Review Amber;Literature	Congenital myopathy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Metabolic crises, recurrent, with variable encephalomyopathic features and neurologic regression, OMIM:618416				26541337;29923093;29327420		False	2	0;33;67	6.45	False		ENSG00000181035	ENSG00000181035	HGNC:28380													
SVIL	gene	SVIL	Expert Review Amber;Literature	Congenital myopathy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Myofibrillar myopathy 10, OMIM:619040;myofibrillar myopathy 10, MONDO:0033620				32779703		False	2	0;100;0	6.45	False		ENSG00000197321	ENSG00000197321	HGNC:11480													
VWA1	gene	VWA1	Expert Review Amber;Literature;NHS GMS	Congenital myopathy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Neuronopathy, distal hereditary motor, autosomal recessive 7, OMIM:619216;neuronopathy, distal hereditary motor, autosomal recessive 7, MONDO:0030977				33459760;39502942		False	2	0;100;0	6.45	False		ENSG00000179403	ENSG00000179403	HGNC:30910