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
CHRND	gene	CHRND	Expert Review Red;Literature	Muscular dystrophy and myopathy_Paediatric		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	congenital myopathy MONDO:0019952			Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198	38982518		False	1	0;0;100	1.85	True		ENSG00000135902	ENSG00000135902	HGNC:1965													
COL4A2	gene	COL4A2	Expert list;Expert Review Green;Expert Review Red	Muscular dystrophy and myopathy_Paediatric		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"Brain small vessel disease 2	614483"			Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198	PMID: 25719457;30315939		False	1	50;0;50	1.85	True	Other	ENSG00000134871	ENSG00000134871	HGNC:2203													
EXOSC3	gene	EXOSC3	Expert Review Red;Literature	Muscular dystrophy and myopathy_Paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	congenital myopathy MONDO:0019952			Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198	30025162;38982518		False	1	0;0;100	1.85	True		ENSG00000107371	ENSG00000107371	HGNC:17944													
FOXP3	gene	FOXP3	Expert Review Red;Literature	Muscular dystrophy and myopathy_Paediatric		Neurology and neurodevelopmental disorders	X-LINKED: hemizygous mutation in males, biallelic mutations in females	congenital myopathy MONDO:0019952			Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198	38982518		False	1	0;0;100	1.85	True		ENSG00000049768	ENSG00000049768	HGNC:6106													
IDUA	gene	IDUA	Expert Review Red;Literature	Muscular dystrophy and myopathy_Paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	congenital myopathy MONDO:0019952			Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198	38982518		False	1	0;0;100	1.85	True		ENSG00000127415	ENSG00000127415	HGNC:5391													
MMS19	gene	MMS19	Expert Review Red;Literature	Muscular dystrophy and myopathy_Paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodegenerative disease, MONDO:0005559, MMS19-related			Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198	38411040		False	1	0;0;100	1.85	True		ENSG00000155229	ENSG00000155229	HGNC:13824													
MYBPC3	gene	MYBPC3	Expert list;Expert Review Amber;Expert Review Red	Muscular dystrophy and myopathy_Paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Cardiomyopathy with myopathy			Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198	PMID: 19858127		False	1	0;50;50	1.85	True		ENSG00000134571	ENSG00000134571	HGNC:7551													
OPA1	gene	OPA1	Expert list;Expert Review Red;Literature	Muscular dystrophy and myopathy_Paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	congenital myopathy MONDO:0019952			Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198	38982518		False	1	0;50;50	1.85	True		ENSG00000198836	ENSG00000198836	HGNC:8140													
SOX8	gene	SOX8	Expert Review Red;Literature	Muscular dystrophy and myopathy_Paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Neurodevelopmental disorder (MONDO:0700092), SOX8-related			Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198	https://www.neurology.org/doi/full/10.1212/NXG.0000000000200088		False	1	0;0;100	1.85	True		ENSG00000005513	ENSG00000005513	HGNC:11203													
TCAP	gene	TCAP	Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services	Muscular dystrophy and myopathy_Paediatric		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, limb-girdle, autosomal recessive 7 (MIM#601954)			Muscular dystrophy;HP:0003560; Elevated circulating creatine kinase concentration;HP:0003236; Myopathy;HP:0003198	25055047;22029105;18948002		False	1	50;0;50	1.85	True		ENSG00000173991	ENSG00000173991	HGNC:11610