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 Expert Review Green;Victorian Clinical Genetics Services Bardet Biedl syndrome Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Alstrom syndrome, MIM# 203800 False 3 100;0;0 1.10 True ENSG00000116127 ENSG00000116127 HGNC:428 ARL6 gene ARL6 Expert Review Green;Victorian Clinical Genetics Services Bardet Biedl syndrome Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 3, MIM# 600151 15258860;32361989;31888296;25402481 False 3 100;0;0 1.10 True ENSG00000113966 ENSG00000113966 HGNC:13210 BBS1 gene BBS1 Expert Review Green;Victorian Clinical Genetics Services Bardet Biedl syndrome Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 1, MIM# 209900 20177705 False 3 100;0;0 1.10 True ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Expert Review Green;Victorian Clinical Genetics Services Bardet Biedl syndrome Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 10, MIM# 615987 16582908;19252258 False 3 100;0;0 1.10 True ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Green;Victorian Clinical Genetics Services Bardet Biedl syndrome Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 12, MIM# 615989 19797195;29633607;26082521 False 3 100;0;0 1.10 True ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Green;Victorian Clinical Genetics Services Bardet Biedl syndrome Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 2, MIM# 615981 11567139;16823392;28143435 False 3 100;0;0 1.10 True ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Green;Victorian Clinical Genetics Services Bardet Biedl syndrome Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 4, MIM#615982;MONDO:0014433 12016587;11381270 False 3 100;0;0 1.10 True ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Green;Victorian Clinical Genetics Services Bardet Biedl syndrome Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 5, MIM#615983;MONDO:0014434 19252258;15137946;10053027;15637713 False 3 100;0;0 1.10 True ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Expert Review Green;Victorian Clinical Genetics Services Bardet Biedl syndrome Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 7, MIM# 615984;MONDO:0014435 12567324;21937992;19797195 False 3 100;0;0 1.10 True ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Expert Review Green;Victorian Clinical Genetics Services Bardet Biedl syndrome Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 9, MIM#615986;MONDO:0014437 16380913;22353939;32686083;32037757 False 3 100;0;0 1.10 True ENSG00000122507 ENSG00000122507 HGNC:30000 CEP164 gene CEP164 Expert list;Expert Review Green Bardet Biedl syndrome Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 34132027;34013113;32055034;27708425;22863007 False 3 100;0;0 1.10 True ENSG00000110274 ENSG00000110274 HGNC:29182 CEP290 gene CEP290 Expert Review Green;Victorian Clinical Genetics Services Bardet Biedl syndrome Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 14, MIM# 615991 18327255;20690115 False 3 100;0;0 1.10 True ENSG00000198707 ENSG00000198707 HGNC:29021 IFT172 gene IFT172 Expert Review Green;Victorian Clinical Genetics Services Bardet Biedl syndrome Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 20, MIM# 619471 30761183;26763875;25168386 False 3 100;0;0 1.10 True ENSG00000138002 ENSG00000138002 HGNC:30391 IFT27 gene IFT27 Expert list;Expert Review Green Bardet Biedl syndrome Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 19, MIM#615996 24488770;30761183;26763875;25443296 False 3 100;0;0 1.10 True ENSG00000100360 ENSG00000100360 HGNC:18626 IFT74 gene IFT74 Expert list;Expert Review Green Bardet Biedl syndrome Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 20, MIM# 617119 27486776;32144365 False 3 100;0;0 1.10 True ENSG00000096872 ENSG00000096872 HGNC:21424 LZTFL1 gene LZTFL1 Expert Review Green;Victorian Clinical Genetics Services Bardet Biedl syndrome Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 17 (MIM#615994) 22510444;23692385;27312011;22072986 False 3 100;0;0 1.10 True ENSG00000163818 ENSG00000163818 HGNC:6741 MKKS gene MKKS Expert Review Green;Victorian Clinical Genetics Services Bardet Biedl syndrome Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 6 (MIM#605231) 10973251 False 3 100;0;0 1.10 True ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Expert Review Green;Victorian Clinical Genetics Services Bardet Biedl syndrome Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 13, MIM# 615990;MONDO:0014441 18327255;24608809 False 3 100;0;0 1.10 True ENSG00000011143 ENSG00000011143 HGNC:7121 SCAPER gene SCAPER Expert Review Green;Literature Bardet Biedl syndrome Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder and retinitis pigmentosa, OMIM #618195;Bardet-Biedl syndrome 30723319;28794130;31069901;31192531;30723319 False 3 100;0;0 1.10 True ENSG00000140386 ENSG00000140386 HGNC:13081 SDCCAG8 gene SDCCAG8 Expert Review Green;Victorian Clinical Genetics Services Bardet Biedl syndrome Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 16, MIM# 615993;MONDO:0014444 20835237;22626039;22626039 False 3 100;0;0 1.10 True ENSG00000054282 ENSG00000054282 HGNC:10671 TTC8 gene TTC8 Expert Review Green;Victorian Clinical Genetics Services Bardet Biedl syndrome Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 8, MIM# 615985 14520415;19797195 False 3 100;0;0 1.10 True ENSG00000165533 ENSG00000165533 HGNC:20087 BBIP1 gene BBIP1 Expert list;Expert Review Amber Bardet Biedl syndrome Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 18, MIM#615995 24026985;32055034 False 2 0;100;0 1.10 True ENSG00000214413 ENSG00000214413 HGNC:28093 C8orf37 gene C8orf37 Expert list;Expert Review Amber Bardet Biedl syndrome Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 21, MIM#617406 27008867;26854863 False 2 0;100;0 1.10 True ENSG00000156172 ENSG00000156172 HGNC:27232 CEP19 gene CEP19 Expert list;Expert Review Red Bardet Biedl syndrome Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 29127258;24268657 False 1 0;0;100 1.10 True ENSG00000174007 ENSG00000174007 HGNC:28209 TRIM32 gene TRIM32 Expert Review Red;Victorian Clinical Genetics Services Bardet Biedl syndrome Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 11, MIM# 615988 16606853 False 1 0;0;100 1.10 True ENSG00000119401 ENSG00000119401 HGNC:16380 WDPCP gene WDPCP Expert Review Red;Victorian Clinical Genetics Services Bardet Biedl syndrome Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 15, MIM# 615992 20671153;25427950 False 1 0;0;100 1.10 True ENSG00000143951 ENSG00000143951 HGNC:28027