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 muscular dystrophy and congenital myopathy		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Myopathy, centronuclear, 4, OMIM:614807				22818856;25635128		False	2	25;50;25	0.239	False		ENSG00000162004	ENSG00000162004	HGNC:14153													
CNTN1	gene	CNTN1	Expert Review Amber;London South GLH;NHS GMS;Radboud University Medical Center, Nijmegen	Congenital muscular dystrophy and congenital myopathy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Myopathy, congenital, Compton-North, OMIM:612540				19026398;32779773		False	2	20;60;20	0.239	False		ENSG00000018236	ENSG00000018236	HGNC:2171													
COL4A1	gene	COL4A1	Expert Review;Expert Review Amber;London South GLH;NHS GMS	Congenital muscular dystrophy and congenital myopathy		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, OMIM:611773;autosomal dominant familial hematuria-retinal arteriolar tortuosity-contractures syndrome, MONDO:0012726				32842921;28056338;22037604;21625620;18160688;20818663		False	2	40;40;20	0.239	False		ENSG00000187498	ENSG00000187498	HGNC:2202													
DHX16	gene	DHX16	Expert Review Amber;Literature	Congenital muscular dystrophy and 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	0.239	False		ENSG00000204560	ENSG00000204560	HGNC:2739													
DPM1	gene	DPM1	Emory Genetics Laboratory;Expert Review Amber;London South GLH;NHS GMS	Congenital muscular dystrophy and congenital myopathy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Congenital disorder of glycosylation, type Ie, OMIM:608799				10642597;10642602;15669674;16641202;23856421;27481510;28139241;30653653		False	2	33;67;0	0.239	False		ENSG00000000419	ENSG00000000419	HGNC:3005													
DYSF	gene	DYSF	Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Congenital muscular dystrophy and congenital myopathy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Miyoshi muscular dystrophy 1, OMIM:254130;Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601;Myopathy, distal, with anterior tibial onset, OMIM:606768				25821721		False	2	0;100;0	0.239	False		ENSG00000135636	ENSG00000135636	HGNC:3097													
FLNC	gene	FLNC	Expert Review;Expert Review Amber;NHS GMS;Radboud University Medical Center, Nijmegen	Congenital muscular dystrophy and 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	0.239	False		ENSG00000128591	ENSG00000128591	HGNC:3756													
LAMP2	gene	LAMP2	Expert Review;Expert Review Amber;London South GLH;NHS GMS	Congenital muscular dystrophy and 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	0.239	False		ENSG00000005893	ENSG00000005893	HGNC:6501													
MTMR14	gene	MTMR14	Expert Review;Expert Review Amber;London South GLH;NHS GMS	Congenital muscular dystrophy and congenital myopathy		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	{Centronuclear myopathy, autosomal, modifier of}, OMIM:160150				19465920		False	2	67;33;0	0.239	False		ENSG00000163719	ENSG00000163719	HGNC:26190													
MYBPC3	gene	MYBPC3	Expert Review;Expert Review Amber;London South GLH;NHS GMS	Congenital muscular dystrophy and congenital myopathy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Cardiomyopathy, dilated, 1MM, OMIM:615396;Cardiomyopathy, hypertrophic, 4, OMIM:115197				19858127		False	2	67;33;0	0.239	False		ENSG00000134571	ENSG00000134571	HGNC:7551													
MYF5	gene	MYF5	Expert list;Expert Review Amber;Literature	Congenital muscular dystrophy and congenital myopathy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Ophthalmoplegia, external, with rib and vertebral anomalies, OMIM:618155				29887215		False	2	0;67;33	0.239	False	Other	ENSG00000111049	ENSG00000111049	HGNC:7565													
NEFL	gene	NEFL	Expert Review Amber;UCL	Congenital muscular dystrophy and congenital myopathy		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Nemaline myopathy, MONDO:0018958				25264603		False	2	0;0;0	0.239	False		ENSG00000104725	ENSG00000277586	HGNC:7739													
PPA2	gene	PPA2	Expert Review;Expert Review Amber;NHS GMS	Congenital muscular dystrophy and congenital myopathy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Sudden cardiac failure, infantile, OMIM:617222						False	2	0;100;0	0.239	False		ENSG00000138777	ENSG00000138777	HGNC:28883													
SLC25A42	gene	SLC25A42	Expert Review Amber;Literature	Congenital muscular dystrophy and 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	0.239	False		ENSG00000181035	ENSG00000181035	HGNC:28380													
SVIL	gene	SVIL	Expert Review Amber;Literature	Congenital muscular dystrophy and congenital myopathy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Myofibrillar myopathy 10, OMIM:619040				32779703		False	2	0;100;0	0.239	False		ENSG00000197321	ENSG00000197321	HGNC:11480													
TCAP	gene	TCAP	Emory Genetics Laboratory;Expert Review Amber	Congenital muscular dystrophy and congenital myopathy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, limb-girdle, autosomal recessive 7, OMIM:601954				23479141;21530252		False	2	0;50;50	0.239	False		ENSG00000173991	ENSG00000173991	HGNC:11610													
VWA1	gene	VWA1	Expert Review Amber;Literature	Congenital muscular dystrophy and 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		False	2	0;100;0	0.239	False		ENSG00000179403	ENSG00000179403	HGNC:30910