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 Red;Literature	Bardet-Biedl Syndrome	Congenital malformations caused by ciliopathies	Ciliopathies	BIALLELIC, autosomal or pseudoautosomal					24026985		False	1	0;0;0	1.55	True		ENSG00000214413	ENSG00000214413	HGNC:28093													
CCDC28B	gene	CCDC28B	Expert Review Red;Radboud University Medical Center, Nijmegen	Bardet-Biedl Syndrome	Congenital malformations caused by ciliopathies	Ciliopathies		{Bardet Biedl syndrome, modifier of}						False	1	0;100;0	1.55	True		ENSG00000160050	ENSG00000160050	HGNC:28163													
CEP290	gene	CEP290	Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Bardet-Biedl Syndrome	Congenital malformations caused by ciliopathies	Ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Bardet Biedl syndrome 14;610189;611134;611755;610188				PMID: 20690115;18327255		False	1	0;0;100	1.55	True		ENSG00000198707	ENSG00000198707	HGNC:29021													
IFT27	gene	IFT27	Expert Review Red;Literature	Bardet-Biedl Syndrome	Congenital malformations caused by ciliopathies	Ciliopathies	BIALLELIC, autosomal or pseudoautosomal					24488770		False	1	0;0;0	1.55	True		ENSG00000100360	ENSG00000100360	HGNC:18626													
LZTFL1	gene	LZTFL1	Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen	Bardet-Biedl Syndrome	Congenital malformations caused by ciliopathies	Ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Bardet Biedl syndrome 17 				PMID: 22510444;23692385		False	1	0;0;100	1.55	True		ENSG00000163818	ENSG00000163818	HGNC:6741													
TMEM67	gene	TMEM67	Expert Review Red;Radboud University Medical Center, Nijmegen	Bardet-Biedl Syndrome	Congenital malformations caused by ciliopathies	Ciliopathies	BIALLELIC, autosomal or pseudoautosomal	{Bardet Biedl syndrome 14, modifier of};216360;607361;613550;610688						False	1	0;0;100	1.55	True		ENSG00000164953	ENSG00000164953	HGNC:28396													
TRIM32	gene	TRIM32	Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen	Bardet-Biedl Syndrome	Congenital malformations caused by ciliopathies	Ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Bardet Biedl syndrome 11;254110				PMID: 16606853;11822024		False	1	0;0;100	1.55	True		ENSG00000119401	ENSG00000119401	HGNC:16380													
WDPCP	gene	WDPCP	Emory Genetics Laboratory;Expert Review Red;Illumina TruGenome Clinical Sequencing Services	Bardet-Biedl Syndrome	Congenital malformations caused by ciliopathies	Ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Bardet-Biedl Syndrome;217085				PMID: 20671153;26518167		False	1	0;0;100	1.55	True		ENSG00000143951	ENSG00000143951	HGNC:28027