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
CEP290	gene	CEP290	Emory Genetics Laboratory;Expert list;Expert Review Amber	Severe early-onset obesity		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Congenital Obesity;?Bardet-Biedl syndrome 14, OMIM:615991				23943788;18327255		False	2	50;50;0	5.21	False		ENSG00000198707	ENSG00000198707	HGNC:29021													
GNB1	gene	GNB1	Expert Review Amber;Literature	Severe early-onset obesity		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Obesity, HP:0001513				38596856		False	2	50;50;0	5.21	False		ENSG00000078369	ENSG00000078369	HGNC:4396													
INPP5E	gene	INPP5E	Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen	Severe early-onset obesity		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	Mental retardation, truncal obesity, retinal dystrophy, and micropenis, OMIM:610156				19668215;31173343		False	2	50;50;0	5.21	False		ENSG00000148384	ENSG00000148384	HGNC:21474													
KSR2	gene	KSR2	Expert list;Expert Review;Expert Review Amber	Severe early-onset obesity		Endocrinology	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	obesity				29273807		False	2	50;50;0	5.21	False		ENSG00000171435	ENSG00000171435	HGNC:18610													
SH2B1	gene	SH2B1	Expert list;Expert Review Amber	Severe early-onset obesity		Endocrinology	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	obesity;Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency, MONDO:0017994				20808231;24971614;28663568;23160192		False	2	50;50;0	5.21	False		ENSG00000178188	ENSG00000178188	HGNC:30417													
TRPC5	gene	TRPC5	Expert Review Amber;Literature	Severe early-onset obesity		Endocrinology	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Obesity, HP:0001513				38959890		False	2	50;50;0	5.21	False		ENSG00000072315	ENSG00000072315	HGNC:12337													
TUB	gene	TUB	Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen	Severe early-onset obesity		Endocrinology	BIALLELIC, autosomal or pseudoautosomal	?Retinal dystrophy and obesity, OMIM:616188				24375934;22618246;22492381;19885003;18619628;18183286;17955208 (candidate for late-onset obesity);16643894;16443771;12076089;10629044;10196693;8612280		False	2	67;33;0	5.21	False		ENSG00000166402	ENSG00000166402	HGNC:12406