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
MADD	gene	MADD	Expert Review Amber;NHS GMS	Recurrent episodic apnoea		Neurology	BIALLELIC, autosomal or pseudoautosomal	DEEAH syndrome, OMIM:619004;deeah syndrome, MONDO:0033561: Neurodevelopmental disorder with dysmorphic facies, impaired speech and hypotonia, OMIM:619005;neurodevelopmental disorder with dysmorphic facies, impaired speech, and hypotonia, MONDO:0033562				32761064		False	2	100;0;0	1.8	False		ENSG00000110514	ENSG00000110514	HGNC:6766													
SCN9A	gene	SCN9A	Expert list;Expert Review Amber	Recurrent episodic apnoea		Neurology	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Paroxysmal extreme pain disorder, OMIM:167400;paroxysmal extreme pain disorder, MONDO:0008179				17679678;32404070;17145499;16338680		False	2	0;100;0	1.8	False		ENSG00000169432	ENSG00000169432	HGNC:10597													
SLC2A1	gene	SLC2A1	Expert list;Expert Review Amber	Recurrent episodic apnoea		Neurology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Dystonia 9, OMIM:601042;GLUT1 deficiency syndrome 1, infantile onset, severe, OMIM:606777;GLUT1 deficiency syndrome 2, childhood onset, OMIM:612126;Stomatin-deficient cryohydrocytosis with neurologic defects, OMIM:608885;{Epilepsy, idiopathic generalized, susceptibility to, 12}, OMIM:614847				22814174;29306089;31769253		False	2	0;100;0	1.8	False		ENSG00000117394	ENSG00000117394	HGNC:11005