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
CCDC28B	gene	CCDC28B	Expert Review Red	Bardet Biedl syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	{Bardet-Biedl syndrome 1, modifier of}, 209900				23015189		False	1	0;100;0	2.16	False		ENSG00000160050	ENSG00000160050	HGNC:28163													
CEP290	gene	CEP290	NHS GMS	Bardet Biedl syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Senior-Loken syndrome 6, 610189;Leber congenital amaurosis 10, 611755;Joubert syndrome 5, 610188;Bardet-Biedl syndrome 14, 615991;Meckel syndrome 4, 611134				20177705;17160906;16682973;16682970;16909394		False	1	0;100;0	2.16	False		ENSG00000198707	ENSG00000198707	HGNC:29021													
TRIM32	gene	TRIM32	Expert Review Red;NHS GMS	Bardet Biedl syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110;?Bardet-Biedl syndrome 11, 615988				16606853;11822024		False	1	0;0;100	2.16	False		ENSG00000119401	ENSG00000119401	HGNC:16380