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 ARL6 gene ARL6 Expert Review Green;NHS GMS;Other Bardet Biedl syndrome Ophthalmology BIALLELIC, autosomal or pseudoautosomal ?Retinitis pigmentosa 55, 613575;{Bardet Biedl syndrome 1, modifier of}, 209900;Bardet Biedl syndrome 3, 600151 15314642;15258860 False 3 100;0;0 2.13 False ENSG00000113966 ENSG00000113966 HGNC:13210 BBS1 gene BBS1 Expert Review Green;NHS GMS;Other Bardet Biedl syndrome Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 1 OMIM:209900;Bardet-Biedl syndrome 1 MONDO:0008854 12118255;23143442 False 3 100;0;0 2.13 False ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Expert Review Green;NHS GMS;Other Bardet Biedl syndrome Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 10, 615987 16582908 False 3 100;0;0 2.13 False ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Green;NHS GMS;Other Bardet Biedl syndrome Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 12, 615989 17160889 False 3 100;0;0 2.13 False ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Green;NHS GMS;Other Bardet Biedl syndrome Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 2, 615981 11285252 False 3 100;0;0 2.13 False ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Green;NHS GMS;Other Bardet Biedl syndrome Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 4, 615982 11381270 False 3 100;0;0 2.13 False ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Green;NHS GMS;Other Bardet Biedl syndrome Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 5, 615983 15137946 False 3 100;0;0 2.13 False ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Expert Review Green;NHS GMS;Other Bardet Biedl syndrome Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 7, 615984 12567324 False 3 100;0;0 2.13 False ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Expert Review Green;NHS GMS;Other Bardet Biedl syndrome Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 9, 615986 16380913 False 3 100;0;0 2.13 False ENSG00000122507 ENSG00000122507 HGNC:30000 IFT27 gene IFT27 Expert Review Green;NHS GMS Bardet Biedl syndrome Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 19, OMIM:615996 24488770;29704304;30761183;29588463 False 3 33;33;33 2.13 False ENSG00000100360 ENSG00000100360 HGNC:18626 IFT74 gene IFT74 Expert Review Green;NHS GMS Bardet Biedl syndrome Ophthalmology BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 20, 617119 27486776;32144365 False 3 0;0;100 2.13 False ENSG00000096872 ENSG00000096872 HGNC:21424 LZTFL1 gene LZTFL1 Expert Review Green;NHS GMS;Other Bardet Biedl syndrome Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 17, 615994 22510444 False 3 33;33;33 2.13 False ENSG00000163818 ENSG00000163818 HGNC:6741 MKKS gene MKKS Expert Review Green;NHS GMS;Other Bardet Biedl syndrome Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 6, 605231;McKusick-Kaufman syndrome, 236700 10973251;10802661 False 3 100;0;0 2.13 False ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Expert Review Green;NHS GMS;Other Bardet Biedl syndrome Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 13, 615990;Meckel syndrome 1, 249000;Joubert syndrome 28, 617121 16415886;20177705;4886560 False 3 80;0;20 2.13 False ENSG00000011143 ENSG00000011143 HGNC:7121 SDCCAG8 gene SDCCAG8 Expert Review Green;NHS GMS;Other Bardet Biedl syndrome Ophthalmology BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 7, 613615;Bardet-Biedl syndrome 16, 615993 20835237 False 3 100;0;0 2.13 False ENSG00000054282 ENSG00000054282 HGNC:10671 TMEM67 gene TMEM67 Expert Review Green;Other Bardet Biedl syndrome Ophthalmology BIALLELIC, autosomal or pseudoautosomal {Bardet-Biedl syndrome 14, modifier of}, 615991 False 3 67;0;33 2.13 False ENSG00000164953 ENSG00000164953 HGNC:28396 TTC8 gene TTC8 Expert Review Green;NHS GMS;Other Bardet Biedl syndrome Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 8, 615985 14520415 False 3 100;0;0 2.13 False ENSG00000165533 ENSG00000165533 HGNC:20087 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 CCDC28B gene CCDC28B Expert Review Red Bardet Biedl syndrome Ophthalmology BIALLELIC, autosomal or pseudoautosomal {Bardet-Biedl syndrome 1, modifier of}, 209900 23015189 False 1 0;100;0 2.13 False ENSG00000160050 ENSG00000160050 HGNC:28163 CEP290 gene CEP290 NHS GMS Bardet Biedl syndrome Ophthalmology BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 6, 610189;Leber congenital amaurosis 10, 611755;Joubert syndrome 5, 610188;Bardet-Biedl syndrome 14, 615991;Meckel syndrome 4, 611134 20177705;17160906;16682973;16682970;16909394 False 1 0;100;0 2.13 False ENSG00000198707 ENSG00000198707 HGNC:29021 TRIM32 gene TRIM32 Expert Review Red;NHS GMS Bardet Biedl syndrome Ophthalmology BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, autosomal recessive 8, 254110;?Bardet-Biedl syndrome 11, 615988 16606853;11822024 False 1 0;0;100 2.13 False ENSG00000119401 ENSG00000119401 HGNC:16380