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 Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Joubert syndrome-3.;Joubert syndrome 3 False 3 100;0;0 1.180 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 Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Alstrom syndrome;Bardet-Biedl Syndrome;203800;Alstrom Syndrome 22773737 False 3 0;0;100 1.180 False ENSG00000116127 ENSG00000116127 HGNC:428 ANKS6 gene ANKS6 Expert list;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel;Nephronophthisis 16, 615382;Nephronophthisis False 3 100;0;0 1.180 False ENSG00000165138 ENSG00000165138 HGNC:26724 ARL13B gene ARL13B Expert list;Expert Review Green;Other Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 8 18674751;25138100 False 3 100;0;0 1.180 False ENSG00000169379 ENSG00000169379 HGNC:25419 ARL6 gene ARL6 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal {Bardet Biedl syndrome 1, modifier of};Bardet Biedl syndrome 3;Bardet-Biedl Syndrome;268000 15258860;21282186 False 3 100;0;0 1.180 False ENSG00000113966 ENSG00000113966 HGNC:13210 ARMC9 gene ARMC9 Expert Review Green;Literature Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30, 617622 28625504 False 3 100;0;0 1.180 False ENSG00000135931 ENSG00000135931 HGNC:20730 B9D2 gene B9D2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies 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 1.180 False ENSG00000123810 ENSG00000123810 HGNC:28636 BBS1 gene BBS1 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 1;Bardet Biedl syndrome 13;Bardet Biedl syndrome 11;268000 12118255;23143442 False 3 100;0;0 1.180 False ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 10 16582908 False 3 100;0;0 1.180 False ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 12 17160889 False 3 100;0;0 1.180 False ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 2 11285252 False 3 100;0;0 1.180 False ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 4 11381270;22353939 False 3 100;0;0 1.180 False ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 5 15137946 False 3 100;0;0 1.180 False ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 7 12567324 False 3 100;0;0 1.180 False ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 9 16380913 False 3 100;0;0 1.180 False ENSG00000122507 ENSG00000122507 HGNC:30000 C21orf2 gene C21orf2 Expert list;Expert Review Green Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Jeune asphyxiating thoracic dystrophy (JATD);Retinal dystrophy with macular staphyloma, 617547;Spondylometaphyseal dysplasia, axial, 602271;Jeune Syndrome 27548899;26974433;26167768;23105016 False 3 100;0;0 1.180 False ENSG00000160226 ENSG00000160226 HGNC:1260 C2CD3 gene C2CD3 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal ?Orofaciodigital syndrome XIV, 615948;short-rib polydactyly syndromes (SRPS;MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD;MIM208500);Orofaciodigital syndromes (OFDS, MIM 311200) 24997988;27094867;26044959 False 3 0;50;50 1.180 False ENSG00000168014 ENSG00000168014 HGNC:24564 C5orf42 gene C5orf42 Expert list;Expert Review Green;Other Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Oral-facial-digital syndrome type VI;Joubert syndrome 17 22425360;22693042;25920555 False 3 100;0;0 1.180 False ENSG00000197603 ENSG00000197603 HGNC:25801 CC2D2A gene CC2D2A Eligibility statement prior genetic testing;Expert list;Expert Review Green;Orphanet;Other Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 9;Meckel syndrome 6;COACH syndrome;Joubert syndrome with oculorenal defect;Meckel syndrome False 3 100;0;0 1.180 False ENSG00000048342 ENSG00000048342 HGNC:29253 CCDC32 gene CCDC32 Expert Review Green;Literature Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Cardiofacioneurodevelopmental syndrome, OMIM:619123;cardiofacioneurodevelopmental syndrome, MONDO:0030873 32307552;35451546 False 3 100;0;0 1.180 False ENSG00000128891 ENSG00000128891 HGNC:28295 CENPF gene CENPF Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Stromme syndrome, OMIM:243605;Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome 26820108 False 3 100;0;0 1.180 False ENSG00000117724 ENSG00000117724 HGNC:1857 CEP104 gene CEP104 Expert Review Green;Other;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 25, 616781;Joubert syndrome 25 26477546 False 3 100;0;0 1.180 False ENSG00000116198 ENSG00000116198 HGNC:24866 CEP120 gene CEP120 Expert list;Expert Review Green;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 13 with or without polydactyly, 616300;Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel;Jeune syndrome;Short-rib thoracic dysplasia 13 with or without polydactyly 29847808 False 3 100;0;0 1.180 True ENSG00000168944 ENSG00000168944 HGNC:26690 CEP164 gene CEP164 Emory Genetics Laboratory;Expert list;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 15, 614845;ciliopathies;Senior-Loken syndrome;Nephronophthisis 15 False 3 0;0;0 1.180 False ENSG00000110274 ENSG00000110274 HGNC:29182 CEP290 gene CEP290 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Orphanet;Other Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal 610189;611134;611755;610188;Joubert syndrome 5;Meckel syndrome 4;Senior-Loken syndrome 6;Joubert syndrome with oculorenal defect;Meckel syndrome;Senior-Loken syndrome 20690115;18327255 False 3 50;0;50 1.180 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP41 gene CEP41 Expert list;Expert Review Green;Other Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 15 22246503 False 3 100;0;0 1.180 False ENSG00000106477 ENSG00000106477 HGNC:12370 CEP83 gene CEP83 Expert list;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 18 615862 24882706 False 3 100;0;0 1.180 False ENSG00000173588 ENSG00000173588 HGNC:17966 CRB2 gene CRB2 Expert Review;Expert Review Green Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ventriculomegaly with cystic kidney disease 219730 25557780 False 3 100;0;0 1.180 False ENSG00000148204 ENSG00000148204 HGNC:18688 CSPP1 gene CSPP1 Expert list;Expert Review Green;Orphanet;Other Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Meckel-Gruber syndrome;Joubert syndrome 21;Meckel syndrome 24360808;24360807;24360803 False 3 100;0;0 1.180 False ENSG00000104218 ENSG00000104218 HGNC:26193 DDX59 gene DDX59 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome V, 174300 23972372;28711741;29127725 False 3 50;0;50 1.180 False ENSG00000118197 ENSG00000118197 HGNC:25360 DHCR7 gene DHCR7 Expert Review Green;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome 270400 9634533 False 3 100;0;0 1.180 False ENSG00000172893 ENSG00000172893 HGNC:2860 DYNC2H1 gene DYNC2H1 Emory Genetics Laboratory;Expert list;Expert Review Green;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 False 3 0;0;0 1.180 False ENSG00000187240 ENSG00000187240 HGNC:2962 DYNC2LI1 gene DYNC2LI1 Expert Review Green;Other Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Short-rib throacic dysplasia 15 with polydactyly, 617088 26077881 False 3 100;0;0 1.180 False ENSG00000138036 ENSG00000138036 HGNC:24595 EVC gene EVC Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome, OMIM:225500 False 3 0;0;0 1.180 False ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome, 225500;Weyers acrofacial dysostosis, 193530 False 3 0;0;0 1.180 False ENSG00000173040 ENSG00000173040 HGNC:19747 GLI3 gene GLI3 Expert list;Expert Review Green;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Greig cephalopolysyndactyly syndrome, OMIM:175700;Pallister-Hall syndrome, OMIM:146510 False 3 0;0;0 1.180 False ENSG00000106571 ENSG00000106571 HGNC:4319 HNF1B gene HNF1B Expert list;Expert Review Green;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel False 3 0;0;0 1.180 False ENSG00000108753 ENSG00000275410 HGNC:11630 HYLS1 gene HYLS1 Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Hydrolethalus syndrome, 236680;Joubert syndrome 26830932 - report in two siblings with Joubert syndrome;19656802 - impairment in ciligenesis;18648327 - Hydrolethalus syndrome;15843405 - Hydrolethalus syndrome False 3 0;0;0 1.180 False ENSG00000198331 ENSG00000198331 HGNC:26558 ICK gene ICK Expert Review Green;Literature Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Endocrine-cerebroosteodysplasia, OMIM:612651;Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 19185282;27069622;27466187 False 3 0;0;0 1.180 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 Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 1, 218330;Cranioectodermal dysplasia 26792575;20493458;24689072;24027799;23826986;19000668 False 3 0;0;0 1.180 False ENSG00000163913 ENSG00000163913 HGNC:13556 IFT140 gene IFT140 Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 9 with or without polydactyly, 266920;Jeune syndrome;Saldino-Mainzer syndrome;Short-rib thoracic dysplasia 9 with or without polydactyly;Mainzer-Saldino Syndrome 22503633 False 3 100;0;0 1.180 False ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 Expert list;Expert Review Green;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 71, 616394;Short-rib thoracic dysplasia 10 with or without polydactyly, 615630;Jeune syndrome;Saldino-Mainzer syndrome;Short-rib thoracic dysplasia 10 with or without polydactyly 24140113 False 3 100;0;0 1.180 False ENSG00000138002 ENSG00000138002 HGNC:30391 IFT27 gene IFT27 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 19, OMIM:615996 24488770;29704304;30761183;29588463 False 3 100;0;0 1.180 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 Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 18 with polydactyly, 617866;Cranioectodermal dysplasia 3, 614099;Sensenbrenner syndrome 21378380;22791528;26892345;24027799;28400947;29896747 False 3 67;0;33 1.180 False ENSG00000119650 ENSG00000119650 HGNC:29669 IFT52 gene IFT52 Expert Review Green;Other Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102;Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915 26880018;27466190;30242358 False 3 50;0;50 1.180 False ENSG00000101052 ENSG00000101052 HGNC:15901 IFT74 gene IFT74 Expert Review Green;Other Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 20, 617119 27486776;32144365 False 3 0;0;100 1.180 False ENSG00000096872 ENSG00000096872 HGNC:21424 IFT80 gene IFT80 Emory Genetics Laboratory;Expert list;Expert Review Green;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 2 with or without polydactyly, 611263;Jeune syndrome;Short-rib thoracic dysplasia 2 with or without polydactyly False 3 0;0;0 1.180 False ENSG00000068885 ENSG00000068885 HGNC:29262 INPP5E gene INPP5E Expert list;Expert Review Green;Other Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Joubert syndrome 1 23386033;26748598 False 3 100;0;0 1.180 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 Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 2, infantile, 602088;Nephronophthisis;Senior-Loken syndrome 12872123 False 3 0;0;0 1.180 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 Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 5, 609254;Senior-Loken syndrome False 3 0;0;0 1.180 False ENSG00000173226 ENSG00000173226 HGNC:28949 KIAA0586 gene KIAA0586 Expert list;Expert Review Green;Other Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Short-rib dysplasia 14 with polydactyly;Short-rib thoracic dysplasia 14 with polydactyly;Joubert syndrome 23 26096313 False 3 100;0;0 1.180 False ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA0753 gene KIAA0753 Expert Review Green;Literature Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal ?Orofaciodigital syndrome XV 617127;Short-rib skeletal dysplasia;Joubert syndrome 26643951;29138412;28220259 False 3 50;0;50 1.180 False ENSG00000198920 ENSG00000198920 HGNC:29110 KIF7 gene KIF7 Emory Genetics Laboratory;Expert list;Expert Review Green;Other;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 12 200990;Acrocallosal syndrome 200990 21633164 False 3 100;0;0 1.180 False ENSG00000166813 ENSG00000166813 HGNC:30497 LAMA1 gene LAMA1 Expert Review;Expert Review Green Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Poretti-Boltshauser syndrome OMIM:615960;ataxia - intellectual disability - oculomotor apraxia - cerebellar cysts syndrome MONDO:0014419 25105227;34423300 False 3 100;0;0 1.180 False ENSG00000101680 ENSG00000101680 HGNC:6481 LZTFL1 gene LZTFL1 Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 17, 615994 22510444;23692385;27312011 False 3 0;0;100 1.180 False ENSG00000163818 ENSG00000163818 HGNC:6741 MAPKBP1 gene MAPKBP1 Expert Review Green;Literature Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 20 617271 28089251 False 3 100;0;0 1.180 False ENSG00000137802 ENSG00000137802 HGNC:29536 MKKS gene MKKS Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 6;236700 10973238;10802661;10973251 False 3 100;0;0 1.180 False ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Orphanet;Other Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Meckel-Gruber syndrome;Meckel syndrome;Bardet-Biedl syndrome;occipital encephalocele;polycystic kidneys;renal fibrosis;polydactyly;Joubert syndrome;Meckel-Gruber syndrome;249000;Joubert syndrome 28 16415886;17437276;24886560;26490104;18327255;16415886 False 3 67;0;33 1.180 False Other - please provide details in the comments ENSG00000011143 ENSG00000011143 HGNC:7121 NEK1 gene NEK1 Emory Genetics Laboratory;Expert list;Expert Review Green;Other;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 6 with or without polydactyly, 263520;Short-rib thoracic dysplasia 6 with or without polydactyly False 3 0;0;0 1.180 False ENSG00000137601 ENSG00000137601 HGNC:7744 NEK8 gene NEK8 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal ?Nephronophthisis 9, 613824;?Renal-hepatic-pancreatic dysplasia 2, 615415;Nephronophthisis;Renal-hepatic-pancreatic dysplasia 18199800;23418306;26967905;26697755;26862157 False 3 67;0;33 1.180 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 Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Nephronophthisis;Joubert syndrome 4;609583 Nephronophthisis 1, juvenile;256100 Senior-Loken syndrome-1, 266900;Senior-Loken syndrome 15138899;15689444;22982934 False 3 100;0;0 1.180 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 Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 7, 267010;Nephronophthisis 3, 604387;Renal-hepatic-pancreatic dysplasia 1, 208540;Nephronophthisis;Renal-hepatic-pancreatic dysplasia;Senior-Loken syndrome False 3 0;0;0 1.180 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 Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 4, 606966;Senior-Loken syndrome 4, 606996;Nephronophthisis;Senior-Loken syndrome False 3 0;0;0 1.180 False ENSG00000131697 ENSG00000131697 HGNC:19104 OFD1 gene OFD1 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies 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 22353940;19800048 False 3 100;0;0 1.180 False ENSG00000046651 ENSG00000046651 HGNC:2567 PIBF1 gene PIBF1 Expert Review;Expert Review Green;Literature;Research Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome; vermis hypoplasia; thick superior cerebellar peduncles; superior cerebellar dysplasia; ataxia; developmental delay 26167768;29695797;30858804 False 3 100;0;0 1.180 False ENSG00000083535 ENSG00000083535 HGNC:23352 PKD1 gene PKD1 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies 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) 20558538;23624871 False 3 100;0;0 1.180 False ENSG00000008710 ENSG00000008710 HGNC:9008 PKD2 gene PKD2 Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic kidney disease 2, 613095 False 3 0;0;0 1.180 False ENSG00000118762 ENSG00000118762 HGNC:9009 PKHD1 gene PKHD1 Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200 False 3 0;0;0 1.180 False ENSG00000170927 ENSG00000170927 HGNC:9016 PMM2 gene PMM2 Expert Review Green;Literature Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia 212065 9140401 False 3 100;0;0 1.180 False ENSG00000140650 ENSG00000140650 HGNC:9115 RPGRIP1L gene RPGRIP1L Expert list;Expert Review Green;Orphanet;Other Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Meckel-Gruber syndrome;Joubert syndrome 7;Meckel syndrome 5;Meckel syndrome 17558407;17558409;19574260 False 3 100;0;0 1.180 False ENSG00000103494 ENSG00000103494 HGNC:29168 SBDS gene SBDS Expert list;Expert Review Green;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Skeletal Ciliopathies 22554078 False 3 0;0;0 1.180 False ENSG00000126524 ENSG00000126524 HGNC:19440 SCLT1 gene SCLT1 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal No OMIM phenotype;Oro-facio-digital syndrome type IX;Senior-L ken Syndrome 28005958;24285566;28486600;23348840;30425282 False 3 50;0;50 1.180 False ENSG00000151466 ENSG00000151466 HGNC:26406 SDCCAG8 gene SDCCAG8 Expert list;Expert Review Green;Orphanet Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal SENIOR-LOKEN SYNDROME;Bardet-Biedl Syndrome;613615;Senior-Loken syndrome 22190896 False 3 100;0;0 1.180 False ENSG00000054282 ENSG00000054282 HGNC:10671 SUFU gene SUFU Expert list;Expert Review Green Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Joubert syndrome 32, OMIM:617757 21289193;28965847;33024317;34675124 False 3 67;33;0 1.180 False ENSG00000107882 ENSG00000107882 HGNC:16466 TBC1D32 gene TBC1D32 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome IX, OMIM:258865;orofaciodigital syndrome IX, MONDO:0009795;Alsahan-Harris syndrome, OMIM:621307;Alsahan-Harris syndrome, MONDO:0979871 32573025;31130284;32060556;24285566;35875813 False 3 100;0;0 1.180 False ENSG00000146350 ENSG00000146350 HGNC:21485 TCTEX1D2 gene TCTEX1D2 Expert list;Expert Review Green Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405;Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565;Jeune asphyxiating thoracic dystrophy;JATD 26044572;25830415;28475963 False 3 100;0;0 1.180 False ENSG00000213123 ENSG00000213123 HGNC:28482 TCTN1 gene TCTN1 Expert list;Expert Review Green Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20301500;21725307;22693042;26477546;26489806;28631893 False 3 100;0;0 1.180 False ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN2 gene TCTN2 Expert list;Expert Review Green;Orphanet;Other Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome, Meckel-Gruber syndrome;Meckel syndrome;Joubert syndrome 24 25118024;21565611 False 3 100;0;0 1.180 False ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Expert list;Expert Review Green;Other Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome IV;Joubert syndrome;Meckel-Gruber;Mohr-Majewski syndrome;Joubert syndrome 18 25118024;22883145 False 3 100;0;0 1.180 False ENSG00000119977 ENSG00000119977 HGNC:24519 TMEM107 gene TMEM107 Expert list;Expert Review Green Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal "?Joubert syndrome 29 617562;Meckel syndrome 13 617562;Orofaciodigital syndrome XVI 617563" 22698544;26595381;26518474;26123494 False 3 0;0;0 1.180 True ENSG00000179029 ENSG00000179029 HGNC:28128 TMEM138 gene TMEM138 Expert list;Expert Review Green;Orphanet;Other Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome with oculorenal defect;Joubert syndrome 16 22282472 False 3 100;0;0 1.180 False ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM216 gene TMEM216 Expert list;Expert Review Green;Orphanet;Other Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies 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 1.180 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM218 gene TMEM218 Expert Review Green;Literature Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 39, OMIM:619562 25161209;33791682 False 3 100;0;0 1.180 False ENSG00000150433 ENSG00000150433 HGNC:27344 TMEM231 gene TMEM231 Emory Genetics Laboratory;Expert list;Expert Review Green;Orphanet;Other;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20, 614970;Meckel syndrome 11, 615397;Joubert syndrome with oculorenal defect;Meckel syndrome;Joubert syndrome 20 False 3 0;0;0 1.180 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert list;Expert Review Green;Orphanet;Other Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Joubert syndrome with oculorenal defect;Joubert syndrome 14 22152675;20301500 False 3 100;0;0 1.180 False ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM67 gene TMEM67 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Orphanet;Other Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Meckel-Gruber syndrome;Joubert syndrome;COACH syndrome;nephronophthisis;?Bardet-Biedl syndrome?;216360;607361;613550;610688;Meckel syndrome;Senior-Boichis syndrome;Nephronophthisis 11;Joubert syndrome 6 PMID: 16415887;PMID: 17160906;PMID: 19058225;PMID: 19508969;PMID: 18327255;PMID: 20607301 False 3 67;0;33 1.180 False ENSG00000164953 ENSG00000164953 HGNC:28396 TRAF3IP1 gene TRAF3IP1 Expert Review Green;Orphanet Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 9 616629 26487268 False 3 100;0;0 1.180 False ENSG00000204104 ENSG00000204104 HGNC:17861 TTC21B gene TTC21B Emory Genetics Laboratory;Expert list;Expert Review Green;Orphanet;Other;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Nephronophthisis;Nephronophthisis 12, 613820;Short-rib thoracic dysplasia 4 with or without polydactyly, 613819;Jeune syndrome;Short-rib thoracic dysplasia 4 with or without polydactyly 27515926 (functional study in C. elegans);21068128;21258341;24876116 (Focal segmental glomerulosclerosis) False 3 100;0;0 1.180 False ENSG00000123607 ENSG00000123607 HGNC:25660 TTC8 gene TTC8 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 8 14520415 False 3 100;0;0 1.180 False ENSG00000165533 ENSG00000165533 HGNC:20087 TXNDC15 gene TXNDC15 Expert list;Expert Review Green Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 14, OMIM:619879 27894351 False 3 0;100;0 1.180 False ENSG00000113621 ENSG00000113621 HGNC:20652 VPS13B gene VPS13B Expert Review;Expert Review Green Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Cohen syndrome, 216550; COHEN SYNDROME False 3 100;0;0 1.180 False ENSG00000132549 ENSG00000132549 HGNC:2183 WDPCP gene WDPCP Emory Genetics Laboratory;Expert list;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 15, 615992;?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085;Meckel syndrome 20671153 False 3 0;0;100 1.180 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 Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 13, 614377;Senior-Loken syndrome 8, 616307;?Cranioectodermal dysplasia 4, 614378;?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376;Cranioectodermal dysplasia;Jeune syndrome;Nephronophthisis;Senior-Loken syndrome;?Short-rib thoracic dysplasia 5 with or without polydactyly False 3 0;0;0 1.180 False ENSG00000157796 ENSG00000157796 HGNC:18340 WDR34 gene WDR34 Expert list;Expert Review Green;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 11 with or without polydactyly, 615633;Jeune syndrome;Short-rib thoracic dysplasia 11 with or without polydactyly 24183449 False 3 100;0;0 1.180 False ENSG00000119333 ENSG00000119333 HGNC:28296 WDR35 gene WDR35 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 2, 613610;Short-rib thoracic dysplasia 7 with or without polydactyly, 614091;Cranioectodermal dysplasia;Short-rib thoracic dysplasia 7 with or without polydactyly False 3 0;0;0 1.180 False ENSG00000118965 ENSG00000118965 HGNC:29250 WDR60 gene WDR60 Expert list;Expert Review Green;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 8 with or without polydactyly, 615503;Jeune syndrome;Short-rib thoracic dysplasia 8 with or without polydactyly;SHORT-RIB POLYDACTYLY 23910462;29271569;26874042;25492405 False 3 50;0;50 1.180 False ENSG00000126870 ENSG00000126870 HGNC:21862 XPNPEP3 gene XPNPEP3 Emory Genetics Laboratory;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Orphanet;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1 OMIM:613159;nephronophthisis-like nephropathy 1 MONDO:0013163 20179356;32660933 False 3 50;0;50 1.180 False ENSG00000196236 ENSG00000196236 HGNC:28052 ZSWIM6 gene ZSWIM6 Expert Review Green;Literature Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acromelic frontonasal dysostosis 603671 25105228 False 3 100;0;0 1.180 False Other - please provide details in the comments ENSG00000130449 ENSG00000130449 HGNC:29316 EXOC3L2 gene EXOC3L2 Expert list;Expert Review Amber Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Brain malformation renal syndrome, OMIM:620943 28749478;27894351 False 2 0;0;100 1.180 False ENSG00000130201 ENSG00000283632 HGNC:30162 FAM149B1 gene FAM149B1 Expert Review Amber;Literature Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;oral-facial-digital syndrome;OFD VI 30905400 False 2 0;100;0 1.180 False ENSG00000138286 ENSG00000138286 HGNC:29162 GLIS2 gene GLIS2 Emory Genetics Laboratory;Expert list;Expert Review Amber;Illumina TruGenome Clinical Sequencing Services;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 7, 611498;Nephronophthisis;NPHP 26374130;23559409;18227149;17618285;23559409 False 2 0;0;100 1.180 False ENSG00000126603 ENSG00000126603 HGNC:29450 IFT81 gene IFT81 Expert list;Expert Review Amber Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 26275418;27666822 False 2 100;0;0 1.180 False ENSG00000122970 ENSG00000122970 HGNC:14313 POC1B gene POC1B Expert list;Expert Review Amber;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert Syndrome;Senior-Loken Syndrome 24 gene panel;Cone-rod dystrophy 20 615973;AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY 24945461;25044745;25018096;29220607;29377742 False 2 50;0;50 1.180 False ENSG00000139323 ENSG00000139323 HGNC:30836 ZNF423 gene ZNF423 Emory Genetics Laboratory;Expert list;Expert Review Amber;Orphanet;Other;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 19, OMIM:614844;Nephronophthisis 14, OMIM:614844 22863007 False 2 0;0;100 1.180 False ENSG00000102935 ENSG00000102935 HGNC:16762 ACVR2B gene ACVR2B Emory Genetics Laboratory;Expert list;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ciliopathies False 1 0;0;0 1.180 False ENSG00000114739 ENSG00000114739 HGNC:174 ADGRV1 gene ADGRV1 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000164199 ENSG00000164199 HGNC:17416 AIPL1 gene AIPL1 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000129221 ENSG00000129221 HGNC:359 ARMC4 gene ARMC4 Expert list;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 23, 615451 False 1 0;0;0 1.180 False ENSG00000169126 ENSG00000169126 HGNC:25583 ATXN10 gene ATXN10 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Other Spinocerebellar ataxia 10, OMIM:603516;Ciliopathies False 1 0;0;100 1.180 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000130638 ENSG00000130638 HGNC:10549 B9D1 gene B9D1 Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 9, OMIM:614209;Meckel syndrome 9, MONDO:0013630;Joubert syndrome 27, OMIM:617120;Joubert syndrome 27, MONDO:0014927 24886560 (2 cases with Joubert);25920555 (report a case with heterozygous mutations in CC2D2A and B9D1);21493627 (case report, with an additional variant in the CEP290 gene suggesting oligogenetic inheritance) False 1 0;0;100 1.180 False ENSG00000108641 ENSG00000108641 HGNC:24123 BBIP1 gene BBIP1 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 18, 615995 24026985 False 1 0;0;0 1.180 False ENSG00000214413 ENSG00000214413 HGNC:28093 C21orf59 gene C21orf59 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 26, 615500 False 1 0;0;0 1.180 False ENSG00000159079 ENSG00000159079 HGNC:1301 C2orf71 gene C2orf71 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000179270 ENSG00000179270 HGNC:34383 C8orf37 gene C8orf37 Other Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 21, 617406 27008867; 26854863 False 1 0;0;0 1.180 False ENSG00000156172 ENSG00000156172 HGNC:27232 CCDC103 gene CCDC103 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 17, 614679 False 1 0;0;0 1.180 False ENSG00000167131 ENSG00000167131 HGNC:32700 CCDC114 gene CCDC114 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 20, 615067 False 1 0;0;0 1.180 False ENSG00000105479 ENSG00000105479 HGNC:26560 CCDC151 gene CCDC151 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 30, 616037 False 1 0;0;0 1.180 False ENSG00000198003 ENSG00000198003 HGNC:28303 CCDC28B gene CCDC28B Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal {Bardet-Biedl syndrome 1, modifier of}, 209900;ciliopathies 23015189 False 1 0;100;0 1.180 False ENSG00000160050 ENSG00000160050 HGNC:28163 CCDC39 gene CCDC39 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 14, 613807;ciliopathies False 1 0;0;0 1.180 False ENSG00000145075 ENSG00000145075 HGNC:25244 CCDC40 gene CCDC40 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 14, 613807;ciliopathies False 1 0;0;0 1.180 False ENSG00000141519 ENSG00000141519 HGNC:26090 CCDC65 gene CCDC65 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 27, 615504 False 1 0;0;0 1.180 False ENSG00000139537 ENSG00000139537 HGNC:29937 CCNO gene CCNO Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 29, 615872 False 1 0;0;0 1.180 False ENSG00000152669 ENSG00000152669 HGNC:18576 CDH23 gene CDH23 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000107736 ENSG00000107736 HGNC:13733 CFAP43 gene CFAP43 Expert Review Red;Literature Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 19, 617592 28552195 False 1 100;0;0 1.180 False ENSG00000197748 ENSG00000197748 HGNC:26684 CFAP44 gene CFAP44 Literature Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal "?Spermatogenic failure 20 617593" 28552195 False 1 0;0;100 1.180 False ENSG00000206530 ENSG00000206530 HGNC:25631 CFAP53 gene CFAP53 Expert list;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 1.180 False ENSG00000172361 ENSG00000172361 HGNC:26530 CFC1 gene CFC1 Expert list;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;0;0 1.180 False ENSG00000136698 ENSG00000136698 HGNC:18292 CFTR gene CFTR Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000001626 ENSG00000001626 HGNC:1884 CLRN1 gene CLRN1 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000163646 ENSG00000163646 HGNC:12605 CRB1 gene CRB1 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000134376 ENSG00000134376 HGNC:2343 CRELD1 gene CRELD1 Emory Genetics Laboratory;Expert list;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ciliopathies False 1 0;0;0 1.180 False ENSG00000163703 ENSG00000163703 HGNC:14630 CRX gene CRX Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000105392 ENSG00000105392 HGNC:2383 DCDC2 gene DCDC2 Expert list;Expert Review Red;Orphanet;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 19, 616217;Neonatal sclerosing cholangitis 27319779 - biallelic missense variants reported in four affected children with Neonatal sclerosing cholangitis;27469900 - 7 out of 24 patients with 7 with biallelic protein-truncating variants in DCDC2 (6 of 19 families);25557784 - in vitro/in vivo evidence;22558177 - expression data for the transcriptome of ciliated cells False 1 25;25;50 1.180 False ENSG00000146038 ENSG00000146038 HGNC:18141 DNAAF1 gene DNAAF1 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 13, 613193;ciliopathies False 1 0;0;0 1.180 False ENSG00000154099 ENSG00000154099 HGNC:30539 DNAAF2 gene DNAAF2 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 10, 612518;ciliopathies False 1 0;0;0 1.180 False ENSG00000165506 ENSG00000165506 HGNC:20188 DNAAF3 gene DNAAF3 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 2, 606763;ciliopathies False 1 0;0;0 1.180 False ENSG00000167646 ENSG00000167646 HGNC:30492 DNAAF4 gene DNAAF4 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 25, 615482 {Dyslexia, susceptibility to, 1}, 127700 False 1 0;0;0 1.180 False ENSG00000256061 ENSG00000256061 HGNC:21493 DNAAF5 gene DNAAF5 Expert list;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 1.180 False ENSG00000164818 ENSG00000164818 HGNC:26013 DNAH1 gene DNAH1 Expert Review Red;Literature Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Spermatogenic failure 18, 617576;?Ciliary dyskinesia, primary, 37, 617577 27798045; 24360805; 28552195 False 1 100;0;0 1.180 False ENSG00000114841 ENSG00000114841 HGNC:2940 DNAH11 gene DNAH11 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 7, with or without situs inversus, 611884;ciliopathies False 1 0;0;0 1.180 False ENSG00000105877 ENSG00000105877 HGNC:2942 DNAH5 gene DNAH5 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 3, with or without situs inversus, 608644;ciliopathies False 1 0;0;0 1.180 False ENSG00000039139 ENSG00000039139 HGNC:2950 DNAI1 gene DNAI1 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 1, with or without situs inversus, 244400 False 1 0;0;0 1.180 False ENSG00000122735 ENSG00000122735 HGNC:2954 DNAI2 gene DNAI2 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 9, with or without situs inversus, 612444 False 1 0;0;0 1.180 False ENSG00000171595 ENSG00000171595 HGNC:18744 DNAJB13 gene DNAJB13 Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies No OMIM phenotype False 1 0;0;0 1.180 False ENSG00000187726 ENSG00000187726 HGNC:30718 DNAL1 gene DNAL1 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 16, 614017 False 1 0;0;0 1.180 False ENSG00000119661 ENSG00000119661 HGNC:23247 DNHD1 gene DNHD1 Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies No OMIM phenotype False 1 0;0;0 1.180 False ENSG00000179532 ENSG00000179532 HGNC:26532 DRC1 gene DRC1 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 21, 615294 False 1 0;0;0 1.180 False ENSG00000157856 ENSG00000157856 HGNC:24245 EXOC8 gene EXOC8 Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies No OMIM phenotype;Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78) 22700954 False 1 0;0;100 1.180 False ENSG00000116903 ENSG00000116903 HGNC:24659 FOXH1 gene FOXH1 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000160973 ENSG00000160973 HGNC:3814 GAS8 gene GAS8 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 33, 616726 False 1 0;0;0 1.180 False ENSG00000141013 ENSG00000141013 HGNC:4166 GDF1 gene GDF1 Emory Genetics Laboratory;Expert list;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;0;0 1.180 False ENSG00000130283 ENSG00000130283 HGNC:4214 GUCY2D gene GUCY2D Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000132518 ENSG00000132518 HGNC:4689 HYDIN gene HYDIN Expert list;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 1.180 False ENSG00000157423 ENSG00000157423 HGNC:19368 IMPDH1 gene IMPDH1 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000106348 ENSG00000106348 HGNC:6052 KCNJ13 gene KCNJ13 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000115474 ENSG00000115474 HGNC:6259 KIAA0556 gene KIAA0556 Expert Review Red;Other Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 26, OMIM:616784;Joubert syndrome 26, MONDO:0014771 False 1 0;0;0 1.180 False ENSG00000047578 ENSG00000047578 HGNC:29068 KIF14 gene KIF14 Expert list;Expert Review Red;Orphanet;Other;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 12, OMIM:616258;Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 24128419 False 1 0;100;0 1.180 False ENSG00000118193 ENSG00000118193 HGNC:19181 LBR gene LBR Expert list;Expert Review Red;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Skeletal Ciliopathies False 1 100;0;0 1.180 False ENSG00000143815 ENSG00000143815 HGNC:6518 LCA5 gene LCA5 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Leber congenital amaurosis 5, 604537;Ciliopathies False 1 0;0;0 1.180 False ENSG00000135338 ENSG00000135338 HGNC:31923 LEFTY2 gene LEFTY2 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000143768 ENSG00000143768 HGNC:3122 LRAT gene LRAT Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000121207 ENSG00000121207 HGNC:6685 LRRC6 gene LRRC6 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 19, 614935 False 1 0;0;0 1.180 False ENSG00000129295 ENSG00000129295 HGNC:16725 MCIDAS gene MCIDAS Expert list;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 1.180 False ENSG00000234602 ENSG00000234602 HGNC:40050 MUC1 gene MUC1 Expert list;Expert Review Red;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel False 1 0;0;0 1.180 False ENSG00000185499 ENSG00000185499 HGNC:7508 MYO7A gene MYO7A Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000137474 ENSG00000137474 HGNC:7606 NKX2-5 gene NKX2-5 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000183072 ENSG00000183072 HGNC:2488 NME8 gene NME8 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 6, 610852 False 1 0;0;0 1.180 False ENSG00000086288 ENSG00000086288 HGNC:16473 NODAL gene NODAL Emory Genetics Laboratory;Expert list;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;0;0 1.180 False ENSG00000156574 ENSG00000156574 HGNC:7865 OCRL gene OCRL Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Dent disease 2, 300555;Lowe syndrome, 309000 False 1 0;0;0 1.180 False ENSG00000122126 ENSG00000122126 HGNC:8108 PCDH15 gene PCDH15 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000150275 ENSG00000150275 HGNC:14674 PDE6D gene PDE6D Expert list;Expert Review Red;Other;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal ?Joubert syndrome 22, 615665;Joubert Syndrome and Senior-Loken Syndrome 24 gene panel;?Joubert syndrome 22 24166846 False 1 0;67;33 1.180 False ENSG00000156973 ENSG00000156973 HGNC:8788 POC1A gene POC1A Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Short stature, onychodysplasia, facial dysmorphism, and hypotrichosis, 614813 False 1 0;0;0 1.180 False ENSG00000164087 ENSG00000164087 HGNC:24488 PRKCSH gene PRKCSH Expert list;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;0;0 1.180 False ENSG00000130175 ENSG00000130175 HGNC:9411 RD3 gene RD3 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000198570 ENSG00000198570 HGNC:19689 RDH12 gene RDH12 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000139988 ENSG00000139988 HGNC:19977 RPE65 gene RPE65 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000116745 ENSG00000116745 HGNC:10294 RPGR gene RPGR Emory Genetics Laboratory;Expert list;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;0 1.180 False ENSG00000156313 ENSG00000156313 HGNC:10295 RPGRIP1 gene RPGRIP1 Emory Genetics Laboratory;Expert Review Red;Orphanet Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies;Meckel syndrome False 1 0;0;0 1.180 False ENSG00000092200 ENSG00000092200 HGNC:13436 RSPH1 gene RSPH1 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 24, 615481 False 1 0;0;0 1.180 False ENSG00000160188 ENSG00000160188 HGNC:12371 RSPH4A gene RSPH4A Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 11, 612649 False 1 0;0;0 1.180 False ENSG00000111834 ENSG00000111834 HGNC:21558 RSPH9 gene RSPH9 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 12, 612650 False 1 0;0;0 1.180 False ENSG00000172426 ENSG00000172426 HGNC:21057 SCNN1A gene SCNN1A Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000111319 ENSG00000111319 HGNC:10599 SCNN1B gene SCNN1B Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000168447 ENSG00000168447 HGNC:10600 SCNN1G gene SCNN1G Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000166828 ENSG00000166828 HGNC:10602 SEC63 gene SEC63 Expert list;Expert Review Red;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel False 1 0;0;0 1.180 False ENSG00000025796 ENSG00000025796 HGNC:21082 SPAG1 gene SPAG1 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 28, 615505 False 1 0;0;0 1.180 False ENSG00000104450 ENSG00000104450 HGNC:11212 SPATA7 gene SPATA7 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Leber congenital amaurosis 3, 604232;Retinitis pigmentosa, juvenile, autosomal recessive, 604232;Ciliopathies False 1 0;0;0 1.180 False ENSG00000042317 ENSG00000042317 HGNC:20423 TAPT1 gene TAPT1 Expert list;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897 26365339 False 1 0;0;100 1.180 False ENSG00000169762 ENSG00000169762 HGNC:26887 TOPORS gene TOPORS Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;100;0 1.180 False ENSG00000197579 ENSG00000197579 HGNC:21653 TRIM32 gene TRIM32 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Muscular dystrophy, limb-girdle, type 2H, 254110;?Bardet-Biedl syndrome 11, 615988 16606853;11822024 False 1 0;0;100 1.180 False ENSG00000119401 ENSG00000119401 HGNC:16380 TSC1 gene TSC1 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000103197 ENSG00000103197 HGNC:12363 TTBK2 gene TTBK2 Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Spinocerebellar ataxia 11, 604432 False 1 0;0;0 1.180 False ENSG00000128881 ENSG00000128881 HGNC:19141 TULP1 gene TULP1 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Leber congenital amaurosis 15, 613843;Retinitis pigmentosa 14, 600132;Ciliopathies False 1 0;0;0 1.180 False ENSG00000112041 ENSG00000112041 HGNC:12423 UMOD gene UMOD Emory Genetics Laboratory;Expert list;Expert Review Red;UKGTN Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel False 1 0;0;0 1.180 False ENSG00000169344 ENSG00000169344 HGNC:12559 USH1C gene USH1C Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000006611 ENSG00000006611 HGNC:12597 USH1G gene USH1G Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000182040 ENSG00000182040 HGNC:16356 USH2A gene USH2A Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000042781 ENSG00000042781 HGNC:12601 VHL gene VHL Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Erythrocytosis, familial, 2, 263400;Hemangioblastoma, cerebellar, somatic;Pheochromocytoma, 171300;Renal cell carcinoma, somatic, 144700;von Hippel-Lindau syndrome, 193300;Ciliopathies False 1 0;0;0 1.180 False ENSG00000134086 ENSG00000134086 HGNC:12687 WDR63 gene WDR63 Other Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown occipital encephalocele and inconsistent brain lobulation; ciliopathy-like disorder False 1 0;0;0 1.180 False ENSG00000162643 ENSG00000162643 HGNC:30711 WHRN gene WHRN Emory Genetics Laboratory;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies Ciliopathies False 1 0;0;0 1.180 False ENSG00000095397 ENSG00000095397 HGNC:16361 ZIC3 gene ZIC3 Emory Genetics Laboratory;Expert list;Expert Review Red Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) False 1 0;0;0 1.180 False ENSG00000156925 ENSG00000156925 HGNC:12874 ZMYND10 gene ZMYND10 Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Ciliary dyskinesia, primary, 22, 615444 False 1 0;0;0 1.180 False ENSG00000004838 ENSG00000004838 HGNC:19412 ISCA-37405-Loss region Expert Review Green;ClinGen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal 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;609583 9856524;15138899;8852662 False 3 0;0;0 1.180 False 2 110104531 110228181 30 60 cnv_loss 2q13 recurrent region (includes NPHP1) Loss ISCA-37432-Loss region Expert Review Green;ClinGen Rare multisystem ciliopathy disorders Congenital malformations caused by ciliopathies Ciliopathies MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RCAD syndrome;utero-vaginal atresia;Schizophrenia;614527;delayed development, intellectual disability;Renal cysts and diabetes syndrome;Autism Spectrum Disorder;Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females;Chromosome 17q12 deletion syndrome;global developmental delay False 3 0;0;0 1.180 False 17 36458167 37854616 3 60 cnv_loss 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss