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 AHI1 gene AHI1 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 3;Joubert syndrome;Joubert syndrome-3. False 3 100;0;0 4.14 False ENSG00000135541 ENSG00000135541 HGNC:21575 ALMS1 gene ALMS1 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Orphanet;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl Syndrome;Alstrom syndrome, OMIM:203800 22773737 False 3 0;0;100 4.14 False ENSG00000116127 ENSG00000116127 HGNC:428 ANKS6 gene ANKS6 Expert list;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel;Nephronophthisis 16, OMIM:615382 23793029;34740236 False 3 100;0;0 4.14 False ENSG00000165138 ENSG00000165138 HGNC:26724 ARL13B gene ARL13B Expert list;Expert Review Green;Other Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 8 18674751;25138100 False 3 100;0;0 4.14 False ENSG00000169379 ENSG00000169379 HGNC:25419 ARL6 gene ARL6 Eligibility statement prior genetic testing;Expert list;Expert Review Green Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal {Bardet Biedl syndrome 1, modifier of};Bardet-Biedl Syndrome;268000;Bardet Biedl syndrome 3 15258860;21282186 False 3 100;0;0 4.14 False ENSG00000113966 ENSG00000113966 HGNC:13210 B9D2 gene B9D2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 34, OMIM:614175;Meckel syndrome 10, OMIM:614175;Meckel syndrome, type 10, MONDO:0013609 26092869;21763481;31411728 False 3 0;0;100 4.14 False ENSG00000123810 ENSG00000123810 HGNC:28636 BBS1 gene BBS1 Eligibility statement prior genetic testing;Expert list;Expert Review Green Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 1 OMIM:209900;Bardet-Biedl syndrome 1 MONDO:0008854 23143442;12118255 False 3 100;0;0 4.14 False ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Eligibility statement prior genetic testing;Expert list;Expert Review Green Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 10 16582908 False 3 100;0;0 4.14 False ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Eligibility statement prior genetic testing;Expert list;Expert Review Green Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 12 17160889 False 3 100;0;0 4.14 False ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Eligibility statement prior genetic testing;Expert list;Expert Review Green Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 2 11285252 False 3 100;0;0 4.14 False ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Eligibility statement prior genetic testing;Expert list;Expert Review Green Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 4 11381270;22353939 False 3 100;0;0 4.14 False ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Eligibility statement prior genetic testing;Expert list;Expert Review Green Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 5 15137946 False 3 100;0;0 4.14 False ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Eligibility statement prior genetic testing;Expert list;Expert Review Green Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 7 12567324 False 3 100;0;0 4.14 False ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Eligibility statement prior genetic testing;Expert list;Expert Review Green Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 9 16380913 False 3 100;0;0 4.14 False ENSG00000122507 ENSG00000122507 HGNC:30000 C5orf42 gene C5orf42 Expert list;Expert Review Green;Other Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Oral-facial-digital syndrome type VI;Joubert syndrome 17 22693042;25920555;22425360 False 3 100;0;0 4.14 False ENSG00000197603 ENSG00000197603 HGNC:25801 CC2D2A gene CC2D2A Eligibility statement prior genetic testing;Expert list;Expert Review Green;Orphanet;Other Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 9;COACH syndrome;Joubert syndrome with oculorenal defect;Meckel syndrome 6;Meckel syndrome False 3 100;0;0 4.14 False ENSG00000048342 ENSG00000048342 HGNC:29253 CENPF gene CENPF Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Stromme syndrome, OMIM:243605;Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome 26820108 False 3 33;0;67 4.14 False ENSG00000117724 ENSG00000117724 HGNC:1857 CEP104 gene CEP104 Expert Review Green;Other;Radboud University Medical Center, Nijmegen Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 25, 616781;Joubert syndrome 25 26477546 False 3 100;0;0 4.14 False ENSG00000116198 ENSG00000116198 HGNC:24866 CEP164 gene CEP164 Emory Genetics Laboratory;Expert list;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal ciliopathies;Nephronophthisis 15;Senior-Loken syndrome;Nephronophthisis 15, 614845 False 3 0;0;0 4.14 False ENSG00000110274 ENSG00000110274 HGNC:29182 CEP290 gene CEP290 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Orphanet;Other Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal 610189;Meckel syndrome 4;Senior-Loken syndrome;611755;Joubert syndrome 5;Joubert syndrome with oculorenal defect;610188;Senior-Loken syndrome 6;611134;Meckel syndrome 20690115;18327255 False 3 50;0;50 4.14 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP41 gene CEP41 Expert list;Expert Review Green;Other Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 15 22246503 False 3 100;0;0 4.14 False ENSG00000106477 ENSG00000106477 HGNC:12370 CEP83 gene CEP83 Expert list;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 18 615862 24882706 False 3 100;0;0 4.14 False ENSG00000173588 ENSG00000173588 HGNC:17966 CRB2 gene CRB2 Expert Review;Expert Review Green Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Ventriculomegaly with cystic kidney disease 219730 25557780 False 3 100;0;0 4.14 False ENSG00000148204 ENSG00000148204 HGNC:18688 CSPP1 gene CSPP1 Expert list;Expert Review Green;Orphanet;Other Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Meckel syndrome;Joubert syndrome 21;Meckel-Gruber syndrome 24360807;24360803;24360808 False 3 100;0;0 4.14 False ENSG00000104218 ENSG00000104218 HGNC:26193 DDX59 gene DDX59 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome V, 174300 29127725;23972372;28711741 False 3 50;0;50 4.14 False ENSG00000118197 ENSG00000118197 HGNC:25360 DHCR7 gene DHCR7 Expert Review Green;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome, OMIM:270400 9634533 False 3 33;0;67 4.14 False ENSG00000172893 ENSG00000172893 HGNC:2860 DLG5 gene DLG5 Expert Review Green;Literature;NHS GMS Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Yuksel-Vogel-Bauser syndrome, OMIM:620703 32631816;30791088;17765678;35361250 False 3 80;20;0 4.14 False ENSG00000151208 ENSG00000151208 HGNC:2904 DYNC2H1 gene DYNC2H1 Emory Genetics Laboratory;Expert list;Expert Review Green;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 False 3 0;0;0 4.14 False ENSG00000187240 ENSG00000187240 HGNC:2962 GLIS2 gene GLIS2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 7, OMIM:611498 17618285;18227149;23559409;26374130;31676329 False 3 33;0;67 4.14 False ENSG00000126603 ENSG00000126603 HGNC:29450 HNF1B gene HNF1B Expert list;Expert Review Green;UKGTN Renal ciliopathies Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel False 3 0;0;100 4.14 False ENSG00000108753 ENSG00000275410 HGNC:11630 HYLS1 gene HYLS1 Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Hydrolethalus syndrome, 236680 26830932 - report in two siblings with Joubert syndrome;19656802 - impairment in ciligenesis;18648327 - Hydrolethalus syndrome;15843405 - Hydrolethalus syndrome False 3 0;0;0 4.14 False ENSG00000198331 ENSG00000198331 HGNC:26558 ICK gene ICK Expert Review Green;Literature Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Endocrine-cerebroosteodysplasia, OMIM:612651;Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 19185282;27069622;27466187 False 3 0;100;0 4.14 False ENSG00000112144 ENSG00000112144 HGNC:21219 IFT122 gene IFT122 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia;Cranioectodermal dysplasia 1, 218330 19000668;24027799;23826986;26792575;24689072;20493458 False 3 0;0;0 4.14 False ENSG00000163913 ENSG00000163913 HGNC:13556 IFT140 gene IFT140 Expert Review;Expert Review Green Renal ciliopathies Renal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920;short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964;cystic kidney disease, MONDO:0002473;{Polycystic kidney disease 9, susceptibility to}, OMIM:621164 22503633;23418020;29706353;34890546 False 3 100;0;0 4.14 False ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 Expert list;Expert Review Green Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 10 with or without polydactyly, OMIM:615630 25168386;30761183;24488770;24140113 False 3 100;0;0 4.14 False ENSG00000138002 ENSG00000138002 HGNC:30391 IFT27 gene IFT27 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 19, OMIM:615996 24488770;29704304;30761183 False 3 100;0;0 4.14 False ENSG00000100360 ENSG00000100360 HGNC:18626 IFT43 gene IFT43 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 3, 614099;Sensenbrenner syndrome;Short-rib thoracic dysplasia 18 with polydactyly, 617866 29896747;28400947;26892345;24027799;21378380;22791528 False 3 67;0;33 4.14 False ENSG00000119650 ENSG00000119650 HGNC:29669 INPP5E gene INPP5E Expert list;Expert Review Green;Other Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Joubert syndrome 1 23386033;26748598 False 3 100;0;0 4.14 False ENSG00000148384 ENSG00000148384 HGNC:21474 INVS gene INVS Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome;Nephronophthisis 2, infantile, 602088;Nephronophthisis 12872123 False 3 0;0;0 4.14 False ENSG00000119509 ENSG00000119509 HGNC:17870 IQCB1 gene IQCB1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 5, 609254;Senior-Loken syndrome False 3 0;0;0 4.14 False ENSG00000173226 ENSG00000173226 HGNC:28949 KIAA0586 gene KIAA0586 Expert list;Expert Review Green;Other Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 23;Joubert syndrome;Short-rib thoracic dysplasia 14 with polydactyly;Short-rib dysplasia 14 with polydactyly 26096313 False 3 100;0;0 4.14 False ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA0753 gene KIAA0753 Expert Review Green;Literature Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal ?Orofaciodigital syndrome XV 617127;Joubert syndrome;Short-rib skeletal dysplasia 29138412;28220259;26643951 False 3 50;0;50 4.14 False ENSG00000198920 ENSG00000198920 HGNC:29110 KIF7 gene KIF7 Emory Genetics Laboratory;Expert list;Expert Review Green;Other;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 12 200990;Acrocallosal syndrome 200990 21633164 False 3 100;0;0 4.14 False ENSG00000166813 ENSG00000166813 HGNC:30497 LZTFL1 gene LZTFL1 Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 17, 615994 22510444;27312011;23692385 False 3 0;0;100 4.14 False ENSG00000163818 ENSG00000163818 HGNC:6741 MAPKBP1 gene MAPKBP1 Expert Review Green;Literature Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 20 617271 28089251 False 3 100;0;0 4.14 False ENSG00000137802 ENSG00000137802 HGNC:29536 MKKS gene MKKS Eligibility statement prior genetic testing;Expert list;Expert Review Green Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 6;236700 10802661;10973251;10973238 False 3 100;0;0 4.14 False ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Orphanet;Other Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal occipital encephalocele;Joubert syndrome;Bardet-Biedl syndrome;Joubert syndrome 28;249000;polydactyly;polycystic kidneys;Meckel-Gruber syndrome;Meckel syndrome;renal fibrosis 26490104;17437276;18327255;24886560;16415886 False 3 67;0;33 4.14 False Other - please provide details in the comments ENSG00000011143 ENSG00000011143 HGNC:7121 NEK8 gene NEK8 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Renal-hepatic-pancreatic dysplasia;?Renal-hepatic-pancreatic dysplasia 2, 615415;Nephronophthisis;?Nephronophthisis 9, 613824 18199800;26967905;26862157;26697755;23418306 False 3 67;0;33 4.14 False ENSG00000160602 ENSG00000160602 HGNC:13387 NPHP1 gene NPHP1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 4;Senior-Loken syndrome;256100 Senior-Loken syndrome-1, 266900;609583 Nephronophthisis 1, juvenile;Nephronophthisis 15138899;22982934;15689444;34415307 False 3 100;0;0 4.14 False ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Renal-hepatic-pancreatic dysplasia;Senior-Loken syndrome;Nephronophthisis 3, 604387;Meckel syndrome 7, 267010;Renal-hepatic-pancreatic dysplasia 1, 208540;Nephronophthisis False 3 0;0;0 4.14 False ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome;Nephronophthisis;Senior-Loken syndrome 4, 606996;Nephronophthisis 4, 606966 False 3 0;0;0 4.14 False ENSG00000131697 ENSG00000131697 HGNC:19104 OFD1 gene OFD1 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other Renal ciliopathies Renal X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Joubert syndrome 10;X-linked Joubert syndrome;Orofaciodigital syndrome I 19800048;22353940 False 3 100;0;0 4.14 False ENSG00000046651 ENSG00000046651 HGNC:2567 PKD1 gene PKD1 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Polycystic kidney disease, adult type I, 173900;Autosomal recessive polycystic kidney disease (ARPKD);Autosomal dominant polycystic kidney disease (ADPKD) 23624871;20558538 False 3 100;0;0 4.14 False ENSG00000008710 ENSG00000008710 HGNC:9008 PKD2 gene PKD2 Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic kidney disease 2, 613095 False 3 0;0;0 4.14 False ENSG00000118762 ENSG00000118762 HGNC:9009 PKHD1 gene PKHD1 Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200 False 3 0;0;0 4.14 False ENSG00000170927 ENSG00000170927 HGNC:9016 PMM2 gene PMM2 Expert Review Green;Literature Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia 212065 9140401 False 3 100;0;0 4.14 False ENSG00000140650 ENSG00000140650 HGNC:9115 PSKH1 gene PSKH1 Expert Review Green;Literature;NHS GMS Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic, 13, OMIM:620962 39132680 False 3 100;0;0 4.14 False ENSG00000159792 ENSG00000159792 HGNC:9529 RPGRIP1L gene RPGRIP1L Expert list;Expert Review Green;Orphanet;Other Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 7;Meckel syndrome 5;Joubert syndrome;Meckel syndrome;Meckel-Gruber syndrome 17558409;17558407;19574260 False 3 100;0;0 4.14 False ENSG00000103494 ENSG00000103494 HGNC:29168 SDCCAG8 gene SDCCAG8 Expert list;Expert Review Green;Orphanet Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal SENIOR-LOKEN SYNDROME;Bardet-Biedl Syndrome;613615;Senior-Loken syndrome 22190896 False 3 100;0;0 4.14 False ENSG00000054282 ENSG00000054282 HGNC:10671 TCTN1 gene TCTN1 Expert list;Expert Review Green Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20301500;22693042;26489806;21725307;26477546;28631893 False 3 100;0;0 4.14 False ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN2 gene TCTN2 Expert list;Expert Review Green;Orphanet;Other Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Meckel syndrome;Joubert syndrome 24;Joubert syndrome, Meckel-Gruber syndrome 25118024;21565611 False 3 100;0;0 4.14 False ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Expert list;Expert Review Green;Other Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Orofaciodigital syndrome IV;Joubert syndrome 18;Meckel-Gruber;Mohr-Majewski syndrome 25118024;22883145 False 3 100;0;0 4.14 False ENSG00000119977 ENSG00000119977 HGNC:24519 TMEM107 gene TMEM107 Expert list;Expert Review Green Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 13 617562;?Joubert syndrome 29 617562;Orofaciodigital syndrome XVI 617563 26518474;26123494;22698544;26595381 False 3 0;0;0 4.14 False ENSG00000179029 ENSG00000179029 HGNC:28128 TMEM138 gene TMEM138 Expert list;Expert Review Green;Orphanet;Other Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome with oculorenal defect;Joubert syndrome 16 22282472 False 3 100;0;0 4.14 False ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM216 gene TMEM216 Expert list;Expert Review Green;Orphanet;Other Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome: Meckel-Gruber syndrome;Joubert syndrome with oculorenal defect;Meckel syndrome;Joubert syndrome 2 22282472;20036350;20512146 False 3 100;0;0 4.14 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM231 gene TMEM231 Emory Genetics Laboratory;Expert list;Expert Review Green;Orphanet;Other;Radboud University Medical Center, Nijmegen Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Meckel syndrome;Joubert syndrome 20;Joubert syndrome with oculorenal defect;Joubert syndrome 20, 614970;Meckel syndrome 11, 615397 False 3 0;0;0 4.14 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert list;Expert Review Green;Orphanet;Other Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Joubert syndrome with oculorenal defect;Joubert syndrome 14 22152675;20301500 False 3 100;0;0 4.14 False ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM67 gene TMEM67 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Orphanet;Other Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;nephronophthisis;COACH syndrome;Joubert syndrome 6;?Bardet-Biedl syndrome?;Senior-Boichis syndrome;613550;607361;Meckel-Gruber syndrome;Meckel syndrome;610688;Nephronophthisis 11;216360 PMID: 16415887;PMID: 17160906;PMID: 19058225;PMID: 19508969;PMID: 20607301;PMID: 18327255 False 3 67;0;33 4.14 False ENSG00000164953 ENSG00000164953 HGNC:28396 TRAF3IP1 gene TRAF3IP1 Expert Review Green;Orphanet Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 9 616629 26487268 False 3 100;0;0 4.14 False ENSG00000204104 ENSG00000204104 HGNC:17861 TTC21B gene TTC21B Emory Genetics Laboratory;Expert list;Expert Review Green;Orphanet;Other;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 12, 613820;Short-rib thoracic dysplasia 4 with or without polydactyly;Jeune syndrome;Short-rib thoracic dysplasia 4 with or without polydactyly, 613819;Nephronophthisis 21258341;27515926 (functional study in C. elegans);21068128;24876116 (Focal segmental glomerulosclerosis) False 3 100;0;0 4.14 False ENSG00000123607 ENSG00000123607 HGNC:25660 TTC8 gene TTC8 Eligibility statement prior genetic testing;Expert list;Expert Review Green Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 8 14520415 False 3 100;0;0 4.14 False ENSG00000165533 ENSG00000165533 HGNC:20087 TXNDC15 gene TXNDC15 Expert list;Expert Review Green Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 14, OMIM:619879 27894351 False 3 0;100;0 4.14 False ENSG00000113621 ENSG00000113621 HGNC:20652 WDPCP gene WDPCP Emory Genetics Laboratory;Expert list;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 15, 615992;Meckel syndrome;?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 20671153 False 3 0;0;100 4.14 False ENSG00000143951 ENSG00000143951 HGNC:28027 WDR19 gene WDR19 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 13, 614377;?Short-rib thoracic dysplasia 5 with or without polydactyly;Senior-Loken syndrome 8, 616307;Cranioectodermal dysplasia;?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376;Jeune syndrome;Senior-Loken syndrome;?Cranioectodermal dysplasia 4, 614378;Nephronophthisis False 3 0;0;0 4.14 False ENSG00000157796 ENSG00000157796 HGNC:18340 WDR35 gene WDR35 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 2, 613610;Cranioectodermal dysplasia;Short-rib thoracic dysplasia 7 with or without polydactyly;Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 False 3 0;0;0 4.14 False ENSG00000118965 ENSG00000118965 HGNC:29250 WDR60 gene WDR60 Expert list;Expert Review Green;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 8 with or without polydactyly, 615503;Short-rib thoracic dysplasia 8 with or without polydactyly;Jeune syndrome;SHORT-RIB POLYDACTYLY 25492405;23910462;29271569;26874042 False 3 50;0;50 4.14 False ENSG00000126870 ENSG00000126870 HGNC:21862 XPNPEP3 gene XPNPEP3 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Orphanet;Radboud University Medical Center, Nijmegen Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1 OMIM:613159;nephronophthisis-like nephropathy 1 MONDO:0013163 20179356;32660933 False 3 67;0;33 4.14 False ENSG00000196236 ENSG00000196236 HGNC:28052 ADAMTS9 gene ADAMTS9 Expert list;Expert Review Amber Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-Related Ciliopathy 30609407 False 2 100;0;0 4.14 False ENSG00000163638 ENSG00000163638 HGNC:13202 BBIP1 gene BBIP1 Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 18, OMIM:615995 24026985;32055034;37239474 False 2 50;50;0 4.14 False ENSG00000214413 ENSG00000214413 HGNC:28093 CEP55 gene CEP55 Expert Review Amber;Literature Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Meckel-like syndrome;autosomal recessive lethal ciliopathy;renal dysplasia 28295209;30622327;28264986 False 2 0;100;0 4.14 False ENSG00000138180 ENSG00000138180 HGNC:1161 CYS1 gene CYS1 Expert Review Amber;Literature Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease, MONDO:0020642 34521872 False 2 0;100;0 4.14 False ENSG00000205795 ENSG00000205795 HGNC:18525 DCDC2 gene DCDC2 Expert list;Expert Review Amber;Orphanet;Radboud University Medical Center, Nijmegen Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Neonatal sclerosing cholangitis;Nephronophthisis 19, 616217 25557784;22558177;27319779;27469900;31821705 False 2 0;60;40 4.14 False ENSG00000146038 ENSG00000146038 HGNC:18141 KIF14 gene KIF14 Expert list;Expert Review Amber;Orphanet;Other;Radboud University Medical Center, Nijmegen Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 12, OMIM:616258;Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 24128419 False 2 33;67;0 4.14 False ENSG00000118193 ENSG00000118193 HGNC:19181 NEK1 gene NEK1 Expert list;Expert Review Amber Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal "Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520" 21211617;22499340;25492405;28123176 False 2 50;50;0 4.14 False ENSG00000137601 ENSG00000137601 HGNC:7744 PDIA6 gene PDIA6 Expert Review Amber;Literature Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Asphyxiating thoracic dystrophy (ATD) syndrome and infantile onset diabetes 33495992 False 2 0;100;0 4.14 False ENSG00000143870 ENSG00000143870 HGNC:30168 SCLT1 gene SCLT1 Expert list;Expert Review Amber Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome type IX;Senior-Loken syndrome 28486600;30425282;30237576;28005958;24285566 False 2 0;100;0 4.14 False ENSG00000151466 ENSG00000151466 HGNC:26406 TMEM72 gene TMEM72 Expert Review Amber;Literature Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal nephronophthisis, MONDO:0019005 41308066 False 2 100;0;0 4.14 False ENSG00000187783 ENSG00000187783 HGNC:31658 ZNF423 gene ZNF423 Emory Genetics Laboratory;Expert list;Expert Review Amber;Orphanet;Other;Radboud University Medical Center, Nijmegen Renal ciliopathies Renal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 19, OMIM:614844;Nephronophthisis 14, OMIM:614844 22863007;32925911;33323469 False 2 0;50;50 4.14 False ENSG00000102935 ENSG00000102935 HGNC:16762 ARMC9 gene ARMC9 Expert Review Red;Literature Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30, OMIM:617622 28625504 False 1 50;0;50 4.14 False ENSG00000135931 ENSG00000135931 HGNC:20730 B9D1 gene B9D1 Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 9, OMIM:614209;Meckel syndrome 9, MONDO:0013630;Joubert syndrome 27, OMIM:617120;Joubert syndrome 27, MONDO:0014927 21493627 (case report, with an additional variant in the CEP290 gene suggesting oligogenetic inheritance);24886560 (2 cases with Joubert);25920555 (report a case with heterozygous mutations in CC2D2A and B9D1) False 1 0;0;100 4.14 False ENSG00000108641 ENSG00000108641 HGNC:24123 C8orf37 gene C8orf37 Expert Review Red;Other Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 21, 617406 26854863;27008867 False 1 0;0;0 4.14 False ENSG00000156172 ENSG00000156172 HGNC:27232 CCDC28B gene CCDC28B Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal ciliopathies;{Bardet-Biedl syndrome 1, modifier of}, 209900 23015189 False 1 0;100;0 4.14 False ENSG00000160050 ENSG00000160050 HGNC:28163 EXOC3L2 gene EXOC3L2 Expert list;Expert Review Red Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Brain malformation renal syndrome, OMIM:620943 28749478;27894351 False 1 0;0;100 4.14 False ENSG00000130201 ENSG00000283632 HGNC:30162 EXOC8 gene EXOC8 Expert Review Red;Radboud University Medical Center, Nijmegen Renal ciliopathies Renal No OMIM phenotype;Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78) 22700954 False 1 0;0;100 4.14 False ENSG00000116903 ENSG00000116903 HGNC:24659 IFT74 gene IFT74 Expert Review Red;Other Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 20, 617119 27486776 False 1 0;0;100 4.14 False ENSG00000096872 ENSG00000096872 HGNC:21424 KIAA0556 gene KIAA0556 Expert Review Red;Other Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 26, OMIM:616784;Joubert syndrome 26, MONDO:0014771 29765138;27245168;26714646 False 1 0;0;0 4.14 False ENSG00000047578 ENSG00000047578 HGNC:29068 MUC1 gene MUC1 Expert list;Expert Review Red;UKGTN Renal ciliopathies Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel False 1 0;0;0 4.14 False ENSG00000185499 ENSG00000185499 HGNC:7508 PDE6D gene PDE6D Expert list;Expert Review Red;Other;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal ?Joubert syndrome 22;Joubert Syndrome and Senior-Loken Syndrome 24 gene panel;?Joubert syndrome 22, 615665 24166846 False 1 0;25;75 4.14 False ENSG00000156973 ENSG00000156973 HGNC:8788 PIBF1 gene PIBF1 Expert Review;Expert Review Red;Literature;Research Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;ataxia;vermis hypoplasia;developmental delay;thick superior cerebellar peduncles;superior cerebellar dysplasia 26167768;29695797;30858804 False 1 0;0;0 4.14 False ENSG00000083535 ENSG00000083535 HGNC:23352 SEC63 gene SEC63 Expert list;Expert Review Red;UKGTN Renal ciliopathies Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel False 1 0;0;0 4.14 False ENSG00000025796 ENSG00000025796 HGNC:21082 SLC41A1 gene SLC41A1 Expert list;Expert Review Red Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 23661805 False 1 0;0;100 4.14 False ENSG00000133065 ENSG00000133065 HGNC:19429 TRIM32 gene TRIM32 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 11, 615988;Muscular dystrophy, limb-girdle, type 2H, 254110 11822024;16606853 False 1 0;0;100 4.14 False ENSG00000119401 ENSG00000119401 HGNC:16380 UMOD gene UMOD Emory Genetics Laboratory;Expert list;Expert Review Red;UKGTN Renal ciliopathies Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel False 1 0;0;0 4.14 False ENSG00000169344 ENSG00000169344 HGNC:12559 ISCA-37405-Loss region Expert Review Green;ClinGen Renal ciliopathies Renal BIALLELIC, autosomal or pseudoautosomal 609583;juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities;266900 8852662;9856524;15138899 False 3 0;0;0 4.14 False 2 110104531 110228181 30 60 cnv_loss 2q13 recurrent region (includes NPHP1) Loss ISCA-37432-Loss region Expert Review Green;ClinGen Renal ciliopathies Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Schizophrenia;Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females;delayed development, intellectual disability;614527;RCAD syndrome;utero-vaginal atresia;Chromosome 17q12 deletion syndrome;Autism Spectrum Disorder;global developmental delay;Renal cysts and diabetes syndrome False 3 0;0;0 4.14 False 17 36458167 37854616 3 60 cnv_loss 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss