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
ANO5	gene	ANO5	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Congenital muscular dystrophy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Miyoshi muscular dystrophy 3, OMIM:613319;Muscular dystrophy, limb-girdle, autosomal recessive 12, OMIM:611307						False	1	0;0;100	6.8	False		ENSG00000171714	ENSG00000171714	HGNC:27337													
COL4A2	gene	COL4A2	Expert Review;Expert Review Red;London South GLH;NHS GMS	Congenital muscular dystrophy		Neurology	Unknown					22037604		False	1	0;33;67	6.8	False		ENSG00000134871	ENSG00000134871	HGNC:2203													
DUX4	gene	DUX4	UKGTN	Congenital muscular dystrophy		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Facioscapulohumeral Muscular Dystrophy 1A				28040729;27922500;27816329;27841748;27672539		False	1	0;0;100	6.8	False	Other - please provide details in the comments	ENSG00000258389	ENSG00000260596	HGNC:50800													
MYMK	gene	MYMK	Expert Review Red;Literature;NHS GMS	Congenital muscular dystrophy		Neurology	BIALLELIC, autosomal or pseudoautosomal	Carey-Fineman-Ziter syndrome, OMIM:254940;Carey-Fineman-Ziter syndrome, MONDO:0009700				28681861		False	1	33;0;67	6.8	False		ENSG00000187616	ENSG00000187616	HGNC:33778													
PABPN1	gene	PABPN1	Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN	Congenital muscular dystrophy		Neurology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Oculopharyngeal muscular dystrophy, OMIM:164300						False	1	0;0;100	6.8	False		ENSG00000100836	ENSG00000100836	HGNC:8565													
RYR1	gene	RYR1	Emory Genetics Laboratory;Expert Review Red	Congenital muscular dystrophy		Neurology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	congenital muscular dystrophies;Central core disease;Minicore myopathy with external ophthalmoplegia;Neuromuscular disease, congenital, with uniform type 1 fiber						False	1	100;0;0	6.8	False		ENSG00000196218	ENSG00000196218	HGNC:10483													
SMCHD1	gene	SMCHD1	Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN	Congenital muscular dystrophy		Neurology	Other	Fascioscapulohumeral muscular dystrophy 2, digenic, OMIM:158901						False	1	0;0;100	6.8	False		ENSG00000101596	ENSG00000101596	HGNC:29090													
SYNE2	gene	SYNE2	Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Congenital muscular dystrophy		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Emery-Dreifuss muscular dystrophy 5, autosomal dominant, OMIM:612999						False	1	0;0;100	6.8	False		ENSG00000054654	ENSG00000054654	HGNC:17084													
TMEM43	gene	TMEM43	Expert Review Red;Radboud University Medical Center, Nijmegen	Congenital muscular dystrophy		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Emery-Dreifuss muscular dystrophy 7, AD, OMIM:614302						False	1	0;0;100	6.8	False		ENSG00000170876	ENSG00000170876	HGNC:28472