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 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