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
LAMA5	gene	LAMA5	Expert Review Red;Royal Melbourne Hospital	Congenital Myasthenia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Presynaptic congenital myasthenic syndrome				28544784;29377152		False	1	0;0;100	1.10	True		ENSG00000130702	ENSG00000130702	HGNC:6485													
LAMB2	gene	LAMB2	Expert Review Red;Royal Melbourne Hospital	Congenital Myasthenia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Pierson syndrome, MIM# 609049;congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations				19251977		False	1	0;0;100	1.10	True		ENSG00000172037	ENSG00000172037	HGNC:6487													
RPH3A	gene	RPH3A	Expert Review Red;Royal Melbourne Hospital	Congenital Myasthenia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	Presynaptic congenital myasthenic syndrome with altered synaptic vesicle homeostasis				29441694		False	1	0;0;100	1.10	True		ENSG00000089169	ENSG00000089169	HGNC:17056													
SNAP25	gene	SNAP25	Expert Review Red;Royal Melbourne Hospital	Congenital Myasthenia		Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	?Myasthenic syndrome, congenital, 18,  616330				25381298		False	1	0;0;100	1.10	True		ENSG00000132639	ENSG00000132639	HGNC:11132													
UNC13A	gene	UNC13A	Expert Review Red;Royal Melbourne Hospital	Congenital Myasthenia		Neurology and neurodevelopmental disorders	BIALLELIC, autosomal or pseudoautosomal	microcephaly, cortical hyperexcitability, and fatal myasthenia;dyskinesia;autism;developmental delay				19558619;27648472		False	1	0;0;100	1.10	True		ENSG00000130477	ENSG00000130477	HGNC:23150