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
BBIP1	gene	BBIP1	Expert Review Amber;NHS GMS	Bardet Biedl syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 18, OMIM:615995;Bardet-Biedl syndrome 18, MONDO:0014446				24026985;32055034;37239474		False	2	50;0;50	2.13	False		ENSG00000214413	ENSG00000214413	HGNC:28093													
C8orf37	gene	C8orf37	Expert Review Amber;NHS GMS	Bardet Biedl syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome 21, OMIM:617406, MONDO:0044308;Cone-rod dystrophy 16, OMIM:614500, MONDO:0013786;Retinitis pigmentosa 64, OMIM:614500, MONDO:0019200				22177090;27008867		False	2	0;100;0	2.13	False		ENSG00000156172	ENSG00000156172	HGNC:27232													
IFT57	gene	IFT57	Expert Review Amber;Literature	Bardet Biedl syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl syndrome, MONDO:0015229				40273360		False	2	0;100;0	2.13	False		ENSG00000114446	ENSG00000114446	HGNC:17367													
WDPCP	gene	WDPCP	Expert Review Amber;NHS GMS;Other	Bardet Biedl syndrome		Ophthalmology	BIALLELIC, autosomal or pseudoautosomal	?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085;?Bardet-Biedl syndrome 15, 615992				20671153;28289185;25427950;27158779		False	2	0;50;50	2.13	False		ENSG00000143951	ENSG00000143951	HGNC:28027