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
CIAO1	gene	CIAO1	Expert Review Amber;Literature	Congenital myaesthenic syndrome		Neurology	BIALLELIC, autosomal or pseudoautosomal	Multiple mitochondrial dysfunctions syndrome 10, OMIM:620960				38950322		False	2	100;0;0	5.8	False		ENSG00000144021	ENSG00000144021	HGNC:14280													
UNC13A	gene	UNC13A	Expert Review Amber;NHS GMS;Wessex and West Midlands GLH	Congenital myaesthenic syndrome		Neurology	BIALLELIC, autosomal or pseudoautosomal	congenital myasthenic syndrome, MONDO:0018940;Neurodevelopmental disorder with hypotonia, epilepsy, and absent speech, OMIM:621455				27648472;28192369;39634123		False	2	25;25;50	5.8	False		ENSG00000130477	ENSG00000130477	HGNC:23150