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
ACTA1	gene	ACTA1	Expert Review;Expert Review Amber	Congenital muscular dystrophy		Neurology	BIALLELIC, autosomal or pseudoautosomal	CMD with rigid spine;Nemaline myopathy 3, autosomal dominant or recessive 161800;Myopathy, congenital, with fiber-type disproportion 1 255310				24642510;25182138 - report of two brothers with congenital muscular dystrophy with rigid spine homozygous for a missense variant (parents were heterozygous, unaffected siblings were either heterozygous or homozygous for the wildtype allele);25913210;26436962;20179953		False	2	0;50;50	6.8	False		ENSG00000143632	ENSG00000143632	HGNC:129													
COL4A1	gene	COL4A1	Expert Review;Expert Review Amber;London South GLH;NHS GMS	Congenital muscular dystrophy		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	6.8	False		ENSG00000187498	ENSG00000187498	HGNC:2202													
DPM1	gene	DPM1	Emory Genetics Laboratory;Expert Review Amber;London South GLH;NHS GMS	Congenital muscular dystrophy		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	6.8	False		ENSG00000000419	ENSG00000000419	HGNC:3005													
DYSF	gene	DYSF	Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Congenital muscular dystrophy		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	6.8	False		ENSG00000135636	ENSG00000135636	HGNC:3097													
TCAP	gene	TCAP	Emory Genetics Laboratory;Expert Review Amber	Congenital muscular dystrophy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, limb-girdle, autosomal recessive 7, OMIM:601954				23479141;21530252		False	2	0;50;50	6.8	False		ENSG00000173991	ENSG00000173991	HGNC:11610													
TK2	gene	TK2	Expert Review Amber;NHS GMS	Congenital muscular dystrophy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Mitochondrial DNA depletion syndrome 2 (myopathic type), OMIM:609560;mitochondrial DNA depletion syndrome, myopathic form, MONDO:0012301				11687801;18021809;18819985;19736010;38544965;40098049		False	2	100;0;0	6.8	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000166548	ENSG00000166548	HGNC:11831