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
DNMT1	gene	DNMT1	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Kleine-Levin syndrome	Sleep disorders	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Neuropathy, hereditary sensory, type IE, 614116; Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121;CEREBELLAR ATAXIA, DEAFNESS, AND NARCOLEPSY, AUTOSOMAL DOMINANT; ADCADN				22328086;24709307;23904686;31984424		False	3	0;0;0	1.8	False		ENSG00000130816	ENSG00000130816	HGNC:2976													
CSNK1D	gene	CSNK1D	Expert Review Amber;Radboud University Medical Center, Nijmegen	Kleine-Levin syndrome	Sleep disorders	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Advanced sleep-phase syndrome, familial, 2, 615224				23636092;25660813		False	2	0;0;0	1.8	False		ENSG00000141551	ENSG00000141551	HGNC:2452													
MOG	gene	MOG	Expert Review Amber	Kleine-Levin syndrome	Sleep disorders	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Narcolepsy 7, 614250				21907016		False	2	100;0;0	1.8	False		ENSG00000204655	ENSG00000204655	HGNC:7197													
AKR1C2	gene	AKR1C2	Expert Review Red;Radboud University Medical Center, Nijmegen	Kleine-Levin syndrome	Sleep disorders	Neurology and neurodevelopmental disorders	Unknown	Obesity, hyperphagia, and developmental delay						False	1	0;0;0	1.8	False		ENSG00000151632	ENSG00000151632	HGNC:385													
CRY1	gene	CRY1	Expert Review Red;Literature	Kleine-Levin syndrome	Sleep disorders	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Attention deficit/hyperactivity disorder (ADHD);Delayed sleep phase disorder (DSPD)				32538895;28388406		False	1	0;0;100	1.8	False		ENSG00000008405	ENSG00000008405	HGNC:2384													
EIF3G	gene	EIF3G	Literature	Kleine-Levin syndrome	Sleep disorders	Neurology and neurodevelopmental disorders	Unknown	Narcolepsy				25669430		False	1	0;0;100	1.8	False		ENSG00000130811	ENSG00000130811	HGNC:3274													
EXT1	gene	EXT1	Expert Review;Expert Review Red	Kleine-Levin syndrome	Sleep disorders	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Familial case of narcolepsy with cataplexy NT1 associated with multiple exostoses (one family)				Journal Sleep Research (2012),  21(Suppl 1), P891;2788404		False	1	0;100;0	1.8	False	Other - please provide details in the comments	ENSG00000182197	ENSG00000182197	HGNC:3512													
HCRT	gene	HCRT	Expert Review Red	Kleine-Levin syndrome	Sleep disorders	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	?Narcolepsy 1, 161400				10973318		False	1	0;0;0	1.8	False		ENSG00000161610	ENSG00000161610	HGNC:4847													
HLA-DQB1	gene	HLA-DQB1	Other	Kleine-Levin syndrome	Sleep disorders	Neurology and neurodevelopmental disorders	Unknown	Kleine-Levin hibernation syndrome 148840;narcolepsy				12473762;27305985;27253765;26126836;26283305;27081540		False	1	0;100;0	1.8	False		ENSG00000179344	ENSG00000179344	HGNC:4944													
NTRK2	gene	NTRK2	Emory Genetics Laboratory;Expert Review Red	Kleine-Levin syndrome	Sleep disorders	Neurology and neurodevelopmental disorders	Unknown	Obesity, hyperphagia, and developmental delay, 613886				15494731;16702999		False	1	0;0;0	1.8	False		ENSG00000148053	ENSG00000148053	HGNC:8032													
PER2	gene	PER2	Expert Review Red;Radboud University Medical Center, Nijmegen	Kleine-Levin syndrome	Sleep disorders	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Advanced sleep phase syndrome, familial, 1, 604348				11232563		False	1	0;0;0	1.8	False		ENSG00000132326	ENSG00000132326	HGNC:8846													
SLC6A4	gene	SLC6A4	Expert Review Red;Illumina TruGenome Clinical Sequencing Services	Kleine-Levin syndrome	Sleep disorders	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	"SLC6A4-Related Behavior Disorders;{Anxiety-related personality traits}	607834;{Obsessive-compulsive disorder}	164230"				16642437;15642926;17101915		False	1	0;0;0	1.8	False	Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments	ENSG00000108576	ENSG00000108576	HGNC:11050													
TRPV4	gene	TRPV4	Expert Review;Expert Review Red	Kleine-Levin syndrome	Sleep disorders	Neurology and neurodevelopmental disorders	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Monozygotic twins concordant for Kleine-Levin Syndrome;recurrent hypersomnia;behavioral disturbances;compulsive eating and drinking (or decreased eating);sexual disinhibition;irritability;confusion;feeling of unreality;altered tactile, gustative, and olphatory perceptions;apathi;impaired speech;impaired memory;depression and anxiety;transient symptoms at the end, amnesia, moderate elation and insomnia;normality between episodes				22547884		False	1	0;0;100	1.8	False		ENSG00000111199	ENSG00000111199	HGNC:18083													
