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
MACF1	gene	MACF1	Expert Review Amber;Literature	Congenital Myasthenia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital myasthenic syndrome, MONDO:0018940, MACF1-related				37721175;30842214		False	2	0;100;0	1.20	True		ENSG00000127603	ENSG00000127603	HGNC:13664													
MYO9A	gene	MYO9A	Expert Review Amber;Royal Melbourne Hospital	Congenital Myasthenia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital myasthenic syndrome 24, presynaptic 618198				26752647;27259756		False	2	50;50;0	1.20	True		ENSG00000066933	ENSG00000066933	HGNC:7608													
PREPL	gene	PREPL	Expert Review Amber;Royal Melbourne Hospital	Congenital Myasthenia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	congenital myasthenic syndrome with pre- and postsynaptic features and growth hormone deficiency;?Myasthenic syndrome, congenital, 22, 616224				29483676;28726805;24610330;27472506		False	2	0;100;0	1.20	True		ENSG00000138078	ENSG00000138078	HGNC:30228													
TOR1AIP1	gene	TOR1AIP1	Expert Review;Expert Review Amber	Congenital Myasthenia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Congenital myasthenic syndrome				PMID: 34164833		False	2	0;100;0	1.20	True		ENSG00000143337	ENSG00000143337	HGNC:29456													
UNC50	gene	UNC50	Expert Review Amber;Literature	Congenital Myasthenia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	arthrogryposis multiplex congenita MONDO:0015168;congenital myasthenic syndrome MONDO:0018940				33820833;29016857;40219868		False	2	0;100;0	1.20	True		ENSG00000115446	ENSG00000115446	HGNC:16046