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
ALMS1	gene	ALMS1	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;UKGTN	Bardet-Biedl Syndrome	Congenital malformations caused by ciliopathies	Ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Alstrom syndrome;Bardet-Biedl Syndrome;203800				PMID: 22773737		False	3	0;0;100	1.55	True		ENSG00000116127	ENSG00000116127	HGNC:428													
ARL6	gene	ARL6	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Bardet-Biedl Syndrome	Congenital malformations caused by ciliopathies	Ciliopathies	BIALLELIC, autosomal or pseudoautosomal	{Bardet Biedl syndrome 1, modifier of};Bardet Biedl syndrome 3;Bardet-Biedl Syndrome;268000				PMID: 15258860;21282186		False	3	100;0;0	1.55	True		ENSG00000113966	ENSG00000113966	HGNC:13210													
BBS1	gene	BBS1	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Bardet-Biedl Syndrome	Congenital malformations caused by ciliopathies	Ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Bardet Biedl syndrome 1;Bardet Biedl syndrome 13;Bardet Biedl syndrome 11;268000				PMID: 12118255;23143442		False	3	100;0;0	1.55	True		ENSG00000174483	ENSG00000174483	HGNC:966													
BBS10	gene	BBS10	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Bardet-Biedl Syndrome	Congenital malformations caused by ciliopathies	Ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Bardet Biedl syndrome 10				PMID: 16582908		False	3	100;0;0	1.55	True		ENSG00000179941	ENSG00000179941	HGNC:26291													
BBS12	gene	BBS12	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Bardet-Biedl Syndrome	Congenital malformations caused by ciliopathies	Ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Bardet Biedl syndrome 12 				PMID: 17160889		False	3	100;0;0	1.55	True		ENSG00000181004	ENSG00000181004	HGNC:26648													
BBS2	gene	BBS2	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Bardet-Biedl Syndrome	Congenital malformations caused by ciliopathies	Ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Bardet Biedl syndrome 2 				PMID: 11285252		False	3	100;0;0	1.55	True		ENSG00000125124	ENSG00000125124	HGNC:967													
BBS4	gene	BBS4	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Bardet-Biedl Syndrome	Congenital malformations caused by ciliopathies	Ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Bardet Biedl syndrome 4				PMID: 11381270		False	3	100;0;0	1.55	True		ENSG00000140463	ENSG00000140463	HGNC:969													
BBS5	gene	BBS5	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN	Bardet-Biedl Syndrome	Congenital malformations caused by ciliopathies	Ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Bardet Biedl syndrome 5				PMID: 15137946		False	3	100;0;0	1.55	True		ENSG00000163093	ENSG00000163093	HGNC:970													
BBS7	gene	BBS7	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Bardet-Biedl Syndrome	Congenital malformations caused by ciliopathies	Ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Bardet Biedl syndrome 7				PMID: 12567324		False	3	100;0;0	1.55	True		ENSG00000138686	ENSG00000138686	HGNC:18758													
BBS9	gene	BBS9	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Bardet-Biedl Syndrome	Congenital malformations caused by ciliopathies	Ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Bardet Biedl syndrome 9 				PMID: 16380913		False	3	100;0;0	1.55	True		ENSG00000122507	ENSG00000122507	HGNC:30000													
MKKS	gene	MKKS	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Bardet-Biedl Syndrome	Congenital malformations caused by ciliopathies	Ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Bardet Biedl syndrome 6;236700				PMID: 10973238;10802661;10973251		False	3	100;0;0	1.55	True		ENSG00000125863	ENSG00000125863	HGNC:7108													
MKS1	gene	MKS1	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Bardet-Biedl Syndrome	Congenital malformations caused by ciliopathies	Ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Meckel syndrome;Bardet Biedl syndrome 13;249000				PMID:18327255;16415886		False	3	0;0;100	1.55	True		ENSG00000011143	ENSG00000011143	HGNC:7121													
SDCCAG8	gene	SDCCAG8	Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services	Bardet-Biedl Syndrome	Congenital malformations caused by ciliopathies	Ciliopathies	BIALLELIC, autosomal or pseudoautosomal	SENIOR-LOKEN SYNDROME;Bardet-Biedl Syndrome;613615				PMID: 22190896		False	3	100;0;0	1.55	True		ENSG00000054282	ENSG00000054282	HGNC:10671													
TTC8	gene	TTC8	Eligibility statement prior genetic testing;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN	Bardet-Biedl Syndrome	Congenital malformations caused by ciliopathies	Ciliopathies	BIALLELIC, autosomal or pseudoautosomal	Bardet Biedl syndrome 8 				PMID: 14520415		False	3	100;0;0	1.55	False		ENSG00000165533	ENSG00000165533	HGNC:20087