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
CACNA1A	gene	CACNA1A	NHS GMS;Wessex and West Midlands GLH	Congenital myaesthenic syndrome		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Lambert-Eaton myasthenic syndrome, MONDO:0018556				11723274		False	1	0;0;100	5.8	False		ENSG00000141837	ENSG00000141837	HGNC:1388													
LAMA5	gene	LAMA5	NHS GMS;Wessex and West Midlands GLH	Congenital myaesthenic syndrome		Neurology	BIALLELIC, autosomal or pseudoautosomal	myopia, facial tics, and failure of neuromuscular transmission				28544784		False	1	0;0;100	5.8	False		ENSG00000130702	ENSG00000130702	HGNC:6485													
LAMB2	gene	LAMB2	Literature;NHS GMS;Wessex and West Midlands GLH	Congenital myaesthenic syndrome		Neurology	BIALLELIC, autosomal or pseudoautosomal	Congenital myasthenic syndrome; congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations; synaptic congenital myasthenic syndrome				19251977;27472506 (Review)		False	1	0;50;50	5.8	False		ENSG00000172037	ENSG00000172037	HGNC:6487													
PREPL	gene	PREPL	Literature;NHS GMS;Wessex and West Midlands GLH	Congenital myaesthenic syndrome		Neurology	BIALLELIC, autosomal or pseudoautosomal	myasthenic syndrome;congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency;?Myasthenic syndrome, congenital, 22, 616224				29483676;28726805;24610330;27472506		False	1	0;50;50	5.8	False		ENSG00000138078	ENSG00000138078	HGNC:30228													
RYR1	gene	RYR1	NHS GMS;Wessex and West Midlands GLH	Congenital myaesthenic syndrome		Neurology	BIALLELIC, autosomal or pseudoautosomal	RYR1-related congenital myopathy				24951453;30808424;30406384;17483490		False	1	0;50;50	5.8	False		ENSG00000196218	ENSG00000196218	HGNC:10483													
SNAP25	gene	SNAP25	Literature;NHS GMS;Other;Wessex and West Midlands GLH	Congenital myaesthenic syndrome		Neurology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	?Myasthenic syndrome, congenital, 18,  616330				25381298; 27472506 (Review)		False	1	0;0;100	5.8	False		ENSG00000132639	ENSG00000132639	HGNC:11132													
SYT15	gene	SYT15	Expert Review Red;NHS GMS;Wessex and West Midlands GLH	Congenital myaesthenic syndrome		Neurology								False	1	0;50;50	5.8	False		ENSG00000204176	ENSG00000204176	HGNC:17167