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
ARHGEF9	gene	ARHGEF9	Expert list	Recurrent episodic apnoea		Neurology	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Developmental and epileptic encephalopathy 8, OMIM:300607						False	1	0;0;100	1.8	False		ENSG00000131089	ENSG00000131089	HGNC:14561													
CHRNE	gene	CHRNE	Expert list	Recurrent episodic apnoea		Neurology	BIALLELIC, autosomal or pseudoautosomal	Myasthenic syndrome, congenital, 4B, fast-channel, OMIM:616324;congenital myasthenic syndrome 4B, MONDO:0014586				24295813;29189923		False	1	0;0;100	1.8	False		ENSG00000108556	ENSG00000108556	HGNC:1966													
GPHN	gene	GPHN	Expert list	Recurrent episodic apnoea		Neurology	BIALLELIC, autosomal or pseudoautosomal	Molybdenum cofactor deficiency C, OMIM:615501						False	1	0;0;100	1.8	False		ENSG00000171723	ENSG00000171723	HGNC:15465													
KCNQ3	gene	KCNQ3	Expert list	Recurrent episodic apnoea		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown					27888506		False	1	0;0;100	1.8	False		ENSG00000184156	ENSG00000184156	HGNC:6297