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 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 3, MIM# 608629 15322546;15467982;16155189 False 3 100;0;0 1.62 True ENSG00000135541 ENSG00000135541 HGNC:21575 ALMS1 gene ALMS1 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Alstrom syndrome, MIM# 203800 False 3 100;0;0 1.62 True ENSG00000116127 ENSG00000116127 HGNC:428 ANKS6 gene ANKS6 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 16, MIM# 615382;MONDO:0014158 23793029;31678577;31635528;26039630;24610927 False 3 100;0;0 1.62 True ENSG00000165138 ENSG00000165138 HGNC:26724 ARL13B gene ARL13B Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 8, MIM# 612291 18674751;25138100;26092869;27894351;29255182;17488627 False 3 100;0;0 1.62 True ENSG00000169379 ENSG00000169379 HGNC:25419 ARL3 gene ARL3 Expert Review Green;Literature Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 35 MIM#618161 30269812;16565502 False 3 100;0;0 1.62 True ENSG00000138175 ENSG00000138175 HGNC:694 ARL6 gene ARL6 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 3, MIM# 600151;Retinitis pigmentosa 55, MIM# 613575 15258860;32361989;31888296;25402481;31736247;19858128 False 3 100;0;0 1.62 True ENSG00000113966 ENSG00000113966 HGNC:13210 ARMC9 gene ARMC9 Expert list;Expert Review Green Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Joubert syndrome 30 617622 AR" PMID: 28625504 False 3 100;0;0 1.62 True ENSG00000135931 ENSG00000135931 HGNC:20730 B9D2 gene B9D2 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 34, MIM# 614175;Meckel syndrome 10, MIM# 614175 26092869;21763481;32726168 False 3 100;0;0 1.62 True ENSG00000123810 ENSG00000123810 HGNC:28636 BBS1 gene BBS1 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 1, MIM# 209900 20177705 False 3 100;0;0 1.62 True ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 10, MIM# 615987 16582908;19252258 False 3 100;0;0 1.62 True ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 12, MIM# 615989 19797195;29633607;26082521 False 3 100;0;0 1.62 True ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 2, MIM# 615981;Retinitis pigmentosa 74, MIM# 616562 11567139;16823392;28143435;31960602;25541840 False 3 100;0;0 1.62 True ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 4, MIM#615982;MONDO:0014433 12016587;11381270 False 3 100;0;0 1.62 True ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 5, MIM#615983;MONDO:0014434 19252258;15137946;10053027;15637713 False 3 100;0;0 1.62 True ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 7, MIM# 615984;MONDO:0014435 12567324;21937992;19797195 False 3 100;0;0 1.62 True ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 9, MIM#615986;MONDO:0014437 16380913;22353939;32686083;32037757 False 3 100;0;0 1.62 True ENSG00000122507 ENSG00000122507 HGNC:30000 C21orf2 gene C21orf2 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Spondylometaphyseal dysplasia, axial, MIM# 602271;Retinal dystrophy with macular staphyloma, MIM# 617547 26974433;27548899;28422394;26294103;23105016;27548899 False 3 100;0;0 1.62 True ENSG00000160226 ENSG00000160226 HGNC:1260 C2CD3 gene C2CD3 Expert list;Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XIV, MIM# 615948;MONDO:0014413 24997988;26477546;27094867;30097616;33875766 False 3 100;0;0 1.62 True ENSG00000168014 ENSG00000168014 HGNC:24564 C5orf42 gene C5orf42 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 17, MIM# 614615 22425360 False 3 100;0;0 1.62 True ENSG00000197603 ENSG00000197603 HGNC:25801 C8orf37 gene C8orf37 Expert list;Expert Review Green Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 21, MIM#617406;Retinitis pigmentosa 64, MIM#614500 27008867;26854863;22177090;25113443;26865426;25802487 False 3 100;0;0 1.62 True ENSG00000156172 ENSG00000156172 HGNC:27232 CBY1 gene CBY1 Expert Review Green;Literature Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal intellectual disability;cerebellar ataxia;molar tooth sign;polydactyly;Joubert syndrome 33131181;25103236;25220153 False 3 100;0;0 1.62 True ENSG00000100211 ENSG00000100211 HGNC:1307 CC2D2A gene CC2D2A Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal COACH syndrome 2, MIM# 619111;Joubert syndrome 9, 612285;Meckel syndrome 6, 612284 22241855;27081510 False 3 100;0;0 1.62 True ENSG00000048342 ENSG00000048342 HGNC:29253 CCDC32 gene CCDC32 Expert Review Green;Literature Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123;Craniofacial, cardiac, laterality and neurodevelopmental anomalies 32307552 False 3 100;0;0 1.62 True ENSG00000128891 ENSG00000128891 HGNC:28295 CENPF gene CENPF Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Stromme syndrome (MIM#243605) 25564561;28407396;26820108 False 3 100;0;0 1.62 True ENSG00000117724 ENSG00000117724 HGNC:1857 CEP104 gene CEP104 Expert list;Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 25, MIM# 616781;MONDO:0014770 26477546 False 3 100;0;0 1.62 True ENSG00000116198 ENSG00000116198 HGNC:24866 CEP120 gene CEP120 Expert list;Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 31, MIM# 617761;Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300 27208211;33486889;29847808;25361962;27208211 False 3 100;0;0 1.62 True ENSG00000168944 ENSG00000168944 HGNC:26690 CEP164 gene CEP164 Expert list;Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome;Nephronophthisis 15, MIM# 614845;Oro-facio-digital syndrome 34132027;34013113;32055034;27708425;22863007 False 3 100;0;0 1.62 True ENSG00000110274 ENSG00000110274 HGNC:29182 CEP290 gene CEP290 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 14, MIM# 615991;Joubert syndrome 5 610188;Leber congenital amaurosis 10, MIM# 611755;Meckel syndrome 4, MIM# 611134;Senior-Loken syndrome 6, MIM# 610189 18327255;20690115;16682973;16682970;17564967;16909394;17564974 False 3 100;0;0 1.62 True ENSG00000198707 ENSG00000198707 HGNC:29021 CEP41 gene CEP41 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 15, MIM# 614464 22246503 False 3 100;0;0 1.62 True ENSG00000106477 ENSG00000106477 HGNC:12370 CEP76 gene CEP76 Expert Review Green;Other Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038;Joubert syndrome;Bardet-Biedl syndrome;retinitis pigmentosa False 3 100;0;0 1.62 True ENSG00000101624 ENSG00000101624 HGNC:25727 CEP83 gene CEP83 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 18, MIM# 615862;MONDO:0014374;Retinal dystrophy;ID 24882706;33938610 False 3 100;0;0 1.62 True ENSG00000173588 ENSG00000173588 HGNC:17966 CRB2 gene CRB2 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ventriculomegaly with cystic kidney disease, MIM# 219730 25557780;33687977;32051522;30212996;33575434;31438467;30593785 False 3 100;0;0 1.62 True ENSG00000148204 ENSG00000148204 HGNC:18688 CSPP1 gene CSPP1 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 21, MIM# 615636;MONDO:0014288 24360808;24360803;24360807;25997910 False 3 100;0;0 1.62 True ENSG00000104218 ENSG00000104218 HGNC:26193 DCDC2 gene DCDC2 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 19, MIM# 616217 25557784;31821705 False 3 33;67;0 1.62 True ENSG00000146038 ENSG00000146038 HGNC:18141 DDX59 gene DDX59 Expert Review;Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome V (MIM#174300) 29127725;23972372;28711741 False 3 100;0;0 1.62 True ENSG00000118197 ENSG00000118197 HGNC:25360 DHCR7 gene DHCR7 Expert list;Expert Review;Expert Review Green Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome (MIM#270400) PMID 23059950 False 3 50;50;0 1.62 True ENSG00000172893 ENSG00000172893 HGNC:2860 DLG5 gene DLG5 Expert Review Green;Literature Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Yuksel-Vogel-Bauer syndrome, MIM#620703 32631816 False 3 100;0;0 1.62 True ENSG00000151208 ENSG00000151208 HGNC:2904 DYNC2H1 gene DYNC2H1 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091;MONDO:0013127 19442771;19361615;22499340;23456818;27925158 False 3 100;0;0 1.62 True ENSG00000187240 ENSG00000187240 HGNC:2962 DYNC2LI1 gene DYNC2LI1 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 15 with polydactyly (MIM#617088) 33030252 False 3 100;0;0 1.62 True ENSG00000138036 ENSG00000138036 HGNC:24595 EVC gene EVC Expert Review;Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome, MIM# 225500 23220543 False 3 33;67;0 1.62 True ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome (MIM#225500) 23220543 False 3 100;0;0 1.62 True ENSG00000173040 ENSG00000173040 HGNC:19747 EXOC3L2 gene EXOC3L2 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Brain malformation renal syndrome, MIM# 620943 30327448;27894351;28749478 False 3 100;0;0 1.62 True ENSG00000130201 ENSG00000283632 HGNC:30162 FAM149B1 gene FAM149B1 Expert Review Green;Literature Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert;Ciliopathy PMID: 30905400 False 3 100;0;0 1.62 True ENSG00000138286 ENSG00000138286 HGNC:29162 FUZ gene FUZ Expert Review Green;Literature Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Ciliopathy_MONDO_0005308, FUZ-related;skeletal ciliopathy PMID: 38702430, 29068549, 34719684 False 3 100;0;0 1.62 True ENSG00000010361 ENSG00000010361 HGNC:26219 GLI3 gene GLI3 Expert list;Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Greig cephalopolysyndactyly syndrome (MIM#175700);Pallister-Hall syndrome (MIM#146510) 24736735 False 3 100;0;0 1.62 True ENSG00000106571 ENSG00000106571 HGNC:4319 GLIS2 gene GLIS2 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 7, OMIM#611498;MONDO:0012680 17618285;23559409;31676329 False 3 100;0;0 1.62 True ENSG00000126603 ENSG00000126603 HGNC:29450 HNF1B gene HNF1B Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cysts and diabetes syndrome, MIM# 137920 False 3 100;0;0 1.62 True ENSG00000108753 ENSG00000275410 HGNC:11630 HYLS1 gene HYLS1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Hydrolethalus syndrome (MIM#236680) 15843405;18648327;19400947;19656802;32509774;26830932 False 3 50;50;0 1.62 True ENSG00000198331 ENSG00000198331 HGNC:26558 ICK gene ICK Expert Review;Expert Review Green Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Endocrine-cerebroosteodysplasia (MIM#612651) 19185282;27069622;27466187;24797473;24853502 False 3 100;0;0 1.62 True ENSG00000112144 ENSG00000112144 HGNC:21219 IFT122 gene IFT122 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 1, MIM# 218330;MONDO:0021093;Beemer-Langer syndrome 20493458;23826986;26792575;29220510;28370949;27681595;27681595 False 3 100;0;0 1.62 True ENSG00000163913 ENSG00000163913 HGNC:13556 IFT140 gene IFT140 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920;MONDO:0009964;Retinitis pigmentosa 80, MIM# 617781;Cystic Kidney Disease, MONDO: 0002473, IFT140-associated, dominant 22503633;23418020;28288023;28724397;26216056;26968735;34890546 False 3 100;0;0 1.62 True ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 20, MIM# 619471;Retinitis pigmentosa 71, MIM# 616394;Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 30761183;26763875;25168386;24140113;25168386 False 3 100;0;0 1.62 True ENSG00000138002 ENSG00000138002 HGNC:30391 IFT27 gene IFT27 Expert list;Expert Review Green Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 19, MIM#615996 24488770;30761183;26763875;25443296 False 3 100;0;0 1.62 True ENSG00000100360 ENSG00000100360 HGNC:18626 IFT43 gene IFT43 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866;Retinitis pigmentosa 81 , MIM#617871;Cranioectodermal dysplasia 3, MIM# 614099 28400947;28973684;21378380 False 3 100;0;0 1.62 True ENSG00000119650 ENSG00000119650 HGNC:29669 IFT52 gene IFT52 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 16 with or without polydactyly, MIM# 617102 26880018;27466190;30242358;31042281 False 3 100;0;0 1.62 True ENSG00000101052 ENSG00000101052 HGNC:15901 IFT74 gene IFT74 Expert list;Expert Review Green Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 20, MIM# 617119;Joubert syndrome 40, MIM# 619582 27486776;32144365;33531668 False 3 100;0;0 1.62 True ENSG00000096872 ENSG00000096872 HGNC:21424 IFT80 gene IFT80 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 2 with or without polydactyly, MIM# 611263;MONDO:0012644 17468754;19648123;30767363 False 3 100;0;0 1.62 True ENSG00000068885 ENSG00000068885 HGNC:29262 IFT81 gene IFT81 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 19 with or without polydactyly, MIM# 617895 27666822;30080953;28460050;26275418 False 3 0;100;0 1.62 True ENSG00000122970 ENSG00000122970 HGNC:14313 INPP5E gene INPP5E Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 1, MIM# 213300;MONDO:0008944;Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156;MONDO:0012423 19668216;32139166;29230161;29052317;27998989;27401686;19668215 False 3 100;0;0 1.62 True ENSG00000148384 ENSG00000148384 HGNC:21474 INTS13 gene INTS13 Expert Review Green;Literature Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Oral-facial-digital syndrome, MONDO:0015375, INTS13-related PMID: 36229431 False 3 100;0;0 1.62 True ENSG00000064102 ENSG00000064102 HGNC:20174 INTU gene INTU Expert Review Green;Literature Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "?Orofaciodigital syndrome XVII MIM#617926;?Short-rib thoracic dysplasia 20 with polydactyly MIM#617925" PMID: 27158779;29451301;20067783 False 3 100;0;0 1.62 True ENSG00000164066 ENSG00000164066 HGNC:29239 INVS gene INVS Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 2, infantile, (MIM#602088) 12872123;19177160 False 3 100;0;0 1.62 True ENSG00000119509 ENSG00000119509 HGNC:17870 IQCB1 gene IQCB1 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 5, MIM# 609254;MONDO:0012225 15723066;21220633;20881296;21901789;33512896;33535056;29219953 False 3 100;0;0 1.62 True ENSG00000173226 ENSG00000173226 HGNC:28949 IQCE gene IQCE Expert Review Green;Literature Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Postaxial polydactyly 31549751;28488682 False 3 100;0;0 1.62 True ENSG00000106012 ENSG00000106012 HGNC:29171 KIAA0586 gene KIAA0586 Expert Review Green;Literature;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 23 616490;Short-rib thoracic dysplasia 14 with polydactyly 616546 26096313;26166481 False 3 100;0;0 1.62 True ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA0753 gene KIAA0753 Expert list;Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Orofaciodigital syndrome XV 617127;Joubert syndrome 38, MIM# 619476;Short-rib thoracic dysplasia 21 without polydactyly, MIM# 619479" 31816441;28220259;29138412;26643951;31816441;33875766;34016807 False 3 100;0;0 1.62 True ENSG00000198920 ENSG00000198920 HGNC:29110 KIF7 gene KIF7 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 12, MIM# 200990;Acrocallosal syndrome, MIM# 200990;MONDO:0008708;Hydrolethalus syndrome 2, MIM# 614120 21552264;21633164;19666503;30445565;26648833;26349186;26174511;25714560 False 3 100;0;0 1.62 True ENSG00000166813 ENSG00000166813 HGNC:30497 LBR gene LBR Expert list;Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Greenberg skeletal dysplasia, MIM#215140 29068549 False 3 100;0;0 1.62 True ENSG00000143815 ENSG00000143815 HGNC:6518 LZTFL1 gene LZTFL1 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 17 (MIM#615994) 22510444;23692385;27312011;22072986 False 3 100;0;0 1.62 True ENSG00000163818 ENSG00000163818 HGNC:6741 MAPKBP1 gene MAPKBP1 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 20, MIM# 617271;MONDO:0014997 28089251;33623699;32505465;32055034 False 3 100;0;0 1.62 True ENSG00000137802 ENSG00000137802 HGNC:29536 MKKS gene MKKS Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 6 (MIM#605231);McKusick-Kaufman syndrome, MIM# 236700;Retinitis pigmentosa 10973251;10802661;26900326 False 3 100;0;0 1.62 True ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 28, MIM# 617121;MONDO:0014928;Meckel syndrome 1, MIM# 249000;MONDO:0009571;Bardet-Biedl syndrome 13, MIM# 615990;MONDO:0014441 17377820;24886560;19776033;33193692;27570071;27377014;18327255;24608809 False 3 100;0;0 1.62 True ENSG00000011143 ENSG00000011143 HGNC:7121 NEK1 gene NEK1 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520;Orofaciodigital syndrome II , MIM# 252100 21211617;22499340;25492405;28123176;27530628 False 3 100;0;0 1.62 True ENSG00000137601 ENSG00000137601 HGNC:7744 NEK8 gene NEK8 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Renal-hepatic-pancreatic dysplasia 2, MIM# 615415;MONDO:0014174;Polycystic kidney disease 8, MIM# 620903 33131162;23418306;26862157;26697755;26967905;23274954;31633649 False 3 100;0;0 1.62 True ENSG00000160602 ENSG00000160602 HGNC:13387 NPHP1 gene NPHP1 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 4, MIM# 609583;Nephronophthisis 1, juvenile, MIM# 256100;Senior-Loken syndrome-1, MIM# 266900 15138899;32139166;28347285;8852662;9856524 False 3 100;0;0 1.62 True ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 3, MIM# 604387;Renal-hepatic-pancreatic dysplasia 1, MIM# 208540;Meckel syndrome 7, MIM# 267010 19177160;34013113;33323469;32341812;28921755;18371931 False 3 100;0;0 1.62 True ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 4, MIM# 606966;Senior-Loken syndrome 4, MIM# 606996 12244321;12205563;34013113 False 3 100;0;0 1.62 True ENSG00000131697 ENSG00000131697 HGNC:19104 OFD1 gene OFD1 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Retinitis pigmentosa 23, MIM# 300424;Joubert syndrome 10, MIM# 300804;Orofaciodigital syndrome I, MIM# 311200 32276433;31373179 False 3 100;0;0 1.62 True ENSG00000046651 ENSG00000046651 HGNC:2567 PDE6D gene PDE6D Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 22, OMIM #615665 24166846;30423442 False 3 100;0;0 1.62 True ENSG00000156973 ENSG00000156973 HGNC:8788 PIBF1 gene PIBF1 Expert Review;Expert Review Green Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 33, OMIM #617767 PMID:26167768;30858804;29695797;33004012 False 3 100;0;0 1.62 True ENSG00000083535 ENSG00000083535 HGNC:23352 PIK3C2A gene PIK3C2A Expert list;Expert Review Green Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Oculoskeletodental syndrome 618440" PMID: 31034465 False 3 100;0;0 1.62 True ENSG00000011405 ENSG00000011405 HGNC:8971 PKHD1 gene PKHD1 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 False 3 100;0;0 1.62 True ENSG00000170927 ENSG00000170927 HGNC:9016 POC1B gene POC1B Expert list;Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 20 (MIM#615973) 25018096;24945461;25044745;29220607;29377742 False 3 50;0;50 1.62 True ENSG00000139323 ENSG00000139323 HGNC:30836 PRKACA gene PRKACA Expert Review Green;Literature Ciliopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardioacrofacial dysplasia 1, MIM# 619142;Postaxial hand polydactyly;Postaxial foot polydactyly;Common atrium;Atrioventricular canal defect;Narrow chest;Abnormality of the teeth;Intellectual disability 33058759;31130284 False 3 100;0;0 1.62 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000072062 ENSG00000072062 HGNC:9380 PRKACB gene PRKACB Expert Review Green;Literature Ciliopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardioacrofacial dysplasia 2, MIM# 619143;Postaxial hand polydactyly;Postaxial foot polydactyly;Common atrium;Atrioventricular canal defect;Narrow chest;Abnormality of the teeth;Intellectual disability 33058759 False 3 100;0;0 1.62 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000142875 ENSG00000142875 HGNC:9381 PSKH1 gene PSKH1 Expert Review Green;Literature Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic, 13, MIM# 620962 PMID: 39132680 False 3 100;0;0 1.62 True ENSG00000159792 ENSG00000159792 HGNC:9529 RAB34 gene RAB34 Expert Review Green;Literature Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome 20, MIM#620718 PMID: 37619988;PMID: 37384395 False 3 100;0;0 1.62 True ENSG00000109113 ENSG00000109113 HGNC:16519 RPGR gene RPGR Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Retinitis pigmentosa 3 (MIM#300029) 19815619;31775781;26093275;30105367 False 3 100;0;0 1.62 True ENSG00000156313 ENSG00000156313 HGNC:10295 RPGRIP1 gene RPGRIP1 Expert Review;Expert Review Green Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Leber congenital amaurosis 6 (MIM#613826)" 25414380;28456785;24997176;28559085 False 3 100;0;0 1.62 True ENSG00000092200 ENSG00000092200 HGNC:13436 RPGRIP1L gene RPGRIP1L Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 7, MIM# 611560;Meckel syndrome 5, MIM# 611561;COACH syndrome 3, MIM# 619113;Nephronophthisis 17558409;17558407;17960139;26071364;19574260;29991045 False 3 100;0;0 1.62 True ENSG00000103494 ENSG00000103494 HGNC:29168 SCAPER gene SCAPER Expert Review;Expert Review Green;Literature Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Intellectual developmental disorder and retinitis pigmentosa, OMIM #618195;Bardet-Biedl syndrome PMID:30723319;28794130;31069901;31192531;30723319 False 3 100;0;0 1.62 True ENSG00000140386 ENSG00000140386 HGNC:13081 SCLT1 gene SCLT1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome type IX;Senior-Loken syndrome 28486600;30425282;30237576;28005958;24285566 False 3 50;50;0 1.62 True ENSG00000151466 ENSG00000151466 HGNC:26406 SCNM1 gene SCNM1 Expert Review Green;Literature Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XIX, MIM# 620107 PMID: 36084634 False 3 100;0;0 1.62 True ENSG00000163156 ENSG00000163156 HGNC:23136 SDCCAG8 gene SDCCAG8 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 16, MIM# 615993;MONDO:0014444;Senior-Loken syndrome 7, MIM# 613615;MONDO:0013326;Nephronophthisis 20835237;22626039;22626039;32432520;31534065;26968886 False 3 100;0;0 1.62 True ENSG00000054282 ENSG00000054282 HGNC:10671 SUFU gene SUFU Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 32, MIM#617757;SUFU-related neurodevelopmental disorder, Joubert-like 28965847;33024317;34675124 False 3 100;0;0 1.62 True ENSG00000107882 ENSG00000107882 HGNC:16466 TBC1D32 gene TBC1D32 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome type IX 24285566;32573025;32060556;31130284 False 3 50;50;0 1.62 True ENSG00000146350 ENSG00000146350 HGNC:21485 TCTEX1D2 gene TCTEX1D2 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 17 with or without polydactyly, MIM# 617405 26044572;25830415 False 3 100;0;0 1.62 True ENSG00000213123 ENSG00000213123 HGNC:28482 TCTN1 gene TCTN1 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 13, MIM# 614173;MONDO:0013608 21725307;26477546;31302911;26489806;22693042 False 3 100;0;0 1.62 True ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN2 gene TCTN2 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 24, MIM# 616654;MONDO:0014724;Meckel syndrome 8, MIM# 613885;MONDO:0013482 21462283;21565611;25118024;21725307;32139166;25118024;32655147;33590725 False 3 100;0;0 1.62 True ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 18, MIM# 614815;MONDO:0013896;Orofaciodigital syndrome IV, MIM# 258860;Mohr-Majewski syndrome;Meckel-Gruber syndrome 22883145;32139166;25118024;34096792 False 3 100;0;0 1.62 True ENSG00000119977 ENSG00000119977 HGNC:24519 TMEM107 gene TMEM107 Expert Review;Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 13 (MIM#617562);Orofaciodigital syndrome XVI (MIM#617563);Joubert syndrome 29 617562 26518474;26595381;26123494 False 3 50;50;0 1.62 True ENSG00000179029 ENSG00000179029 HGNC:28128 TMEM138 gene TMEM138 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 16, MIM# 614465;MONDO:0013764 22282472;28102635;27434533 False 3 100;0;0 1.62 True ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM216 gene TMEM216 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 2, MIM# 608091;MONDO:0011963;Meckel syndrome 2, MIM# 603194;MONDO:0011296 20036350;20512146;39191256 False 3 100;0;0 1.62 True ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM218 gene TMEM218 Expert Review;Expert Review Green Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 39, MIM#619562;retinal dystrophy;polycystic kidneys;occipital encephalocele 35137054;33791682 False 3 100;0;0 1.62 True ENSG00000150433 ENSG00000150433 HGNC:27344 TMEM231 gene TMEM231 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20, MIM# 614970;MONDO:0013994;Meckel syndrome 11, MIM# 615397;MONDO:0014164 23012439;23349226;22179047;30617574;27449316;31663672;25869670 False 3 100;0;0 1.62 True ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 14, MIM# 614424 22152675 False 3 100;0;0 1.62 True ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM67 gene TMEM67 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 6, MIM# 610688;Meckel syndrome 3, MIM# 607361;Nephronophthisis 11, MIM# 613550;COACH syndrome 1, MIM# 216360 16415887;17377820;17160906;19508969 False 3 100;0;0 1.62 True ENSG00000164953 ENSG00000164953 HGNC:28396 TOGARAM1 gene TOGARAM1 Expert Review Green;Literature Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Joubert syndrome 37, MIM# 619185" 32747439;32453716 False 3 100;0;0 1.62 True ENSG00000198718 ENSG00000198718 HGNC:19959 TRAF3IP1 gene TRAF3IP1 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 9, MIM# 616629;MONDO:0014712 26487268;18364699;21945076 False 3 100;0;0 1.62 True ENSG00000204104 ENSG00000204104 HGNC:17861 TTC21B gene TTC21B Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 12, MIM# 613820;Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819;Joubert syndrome 21258341;25492405;18327258;33875766 False 3 50;0;50 1.62 True ENSG00000123607 ENSG00000123607 HGNC:25660 TTC26 gene TTC26 Expert Review Green;Literature Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Biliary, renal, neurologic, and skeletal syndrome, MIM# 619534;Ciliopathy Syndrome with Biliary, Renal, Neurological, and Skeletal Manifestations 34177428;32617964;31595528;24596149;22718903 False 3 100;0;0 1.62 True ENSG00000105948 ENSG00000105948 HGNC:21882 TTC8 gene TTC8 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 8, MIM# 615985 14520415;19797195 False 3 100;0;0 1.62 True ENSG00000165533 ENSG00000165533 HGNC:20087 TULP1 gene TULP1 Expert Review;Expert Review Green Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 14 M(MIM#600132) 17620573;27440997;21987678;15557452 False 3 100;0;0 1.62 True ENSG00000112041 ENSG00000112041 HGNC:12423 TXNDC15 gene TXNDC15 Expert Review;Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 14, MIM# 619879 30851085;27894351 False 3 100;0;0 1.62 True ENSG00000113621 ENSG00000113621 HGNC:20652 UMOD gene UMOD Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomerulocystic kidney disease with hyperuricemia and isosthenuria (MIM#609886);Hyperuricemic nephropathy, familial juvenile 1 (MIM#162000);Medullary cystic kidney disease 2 (MIM#603860) 20172860;31068150 False 3 100;0;0 1.62 True ENSG00000169344 ENSG00000169344 HGNC:12559 WDPCP gene WDPCP Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 15, MIM# 615992;OFD;Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 20671153;25427950;32055034;29588463;28289185 False 3 100;0;0 1.62 True ENSG00000143951 ENSG00000143951 HGNC:28027 WDR19 gene WDR19 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 13, MIM# 614377;Senior-Loken syndrome 8, MIM# 616307;Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376;Cranioectodermal dysplasia 4, MIM# 614378 33946315;33875766;33606107;22019273;23559409;23683095;32055034 False 3 100;0;0 1.62 True ENSG00000157796 ENSG00000157796 HGNC:18340 WDR34 gene WDR34 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 11 with or without polydactyly, MIM# 615633;Retinitis pigmentosa 24183449;24183451;33124039;30649997;29241935;28379358 False 3 100;0;0 1.62 True ENSG00000119333 ENSG00000119333 HGNC:28296 WDR35 gene WDR35 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 2, MIM#613610;MONDO:0013323;Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091;MONDO:0013569 33421337;29134781;28870638;26691894;24027799;21473986 False 3 100;0;0 1.62 True ENSG00000118965 ENSG00000118965 HGNC:29250 WDR44 gene WDR44 Expert Review Green;Literature Ciliopathies Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Ciliopathy, MONDO:0005308, WDR44-related PMID: 38191484 False 3 100;0;0 1.62 True ENSG00000131725 ENSG00000131725 HGNC:30512 WDR60 gene WDR60 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503;Retinitis pigmentosa 23910462;29271569;26874042 False 3 100;0;0 1.62 True ENSG00000126870 ENSG00000126870 HGNC:21862 XPNPEP3 gene XPNPEP3 Expert Review Green;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1, OMIM #613159 20179356;32660933 False 3 100;0;0 1.62 True ENSG00000196236 ENSG00000196236 HGNC:28052 ADAMTS9 gene ADAMTS9 Expert list;Expert Review Amber Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related 30609407 False 2 50;50;0 1.62 True ENSG00000163638 ENSG00000163638 HGNC:13202 B9D1 gene B9D1 Expert Review Amber;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 9, MIM# 614209;Joubert syndrome 27, MIM# 617120 24886560;21493627;25920555 False 2 0;100;0 1.62 True ENSG00000108641 ENSG00000108641 HGNC:24123 BBIP1 gene BBIP1 Expert list;Expert Review Amber Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 18, MIM#615995 24026985;32055034 False 2 0;100;0 1.62 True ENSG00000214413 ENSG00000214413 HGNC:28093 CCDC28B gene CCDC28B Expert Review Amber;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes Other {Bardet-Biedl syndrome 1, modifier of}, MIM#209900;Joubert syndrome 32139166 False 2 0;50;50 1.62 True ENSG00000160050 ENSG00000160050 HGNC:28163 CEP55 gene CEP55 Expert Review Amber;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM# 236500 28264986;28295209;32100459 False 2 0;100;0 1.62 True ENSG00000138180 ENSG00000138180 HGNC:1161 GRK2 gene GRK2 Expert Review Amber;Literature Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Jeune asphyxiating thoracic dystrophy (ATD), MONDO:0018770 33200460 False 2 0;100;0 1.62 True ENSG00000173020 ENSG00000173020 HGNC:289 KIF3B gene KIF3B Expert Review Amber;Literature Ciliopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hepatic fibrosis;retinitis pigmentosa;postaxial polydactyly;Retinitis pigmentosa 89, MIM#618955 32386558 False 2 0;100;0 1.62 True ENSG00000101350 ENSG00000101350 HGNC:6320 PDIA6 gene PDIA6 Expert Review;Expert Review Amber Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Asphyxiating thoracic dystrophy (ATD) syndrome and infantile onset diabetes 33495992 False 2 0;100;0 1.62 True ENSG00000143870 ENSG00000143870 HGNC:30168 PRKCSH gene PRKCSH Expert Review Amber;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease 1 (MIM#174050) 19876928 False 2 0;100;0 1.62 True Other ENSG00000130175 ENSG00000130175 HGNC:9411 SBDS gene SBDS Expert Review Amber;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Shwachman-Diamond syndrome, MIM# 260400 22554078 False 2 0;100;0 1.62 True ENSG00000126524 ENSG00000126524 HGNC:19440 SEC63 gene SEC63 Expert Review Amber;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease 2 (MIM#617004) 15133510;19876928 False 2 0;100;0 1.62 True ENSG00000025796 ENSG00000025796 HGNC:21082 SLC30A7 gene SLC30A7 Expert Review Amber;Literature Ciliopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Joubert syndrome (MONDO:0018772), SLC30A7-related PMID: 35751429 False 2 0;100;0 1.62 True ENSG00000162695 ENSG00000162695 HGNC:19306 TAPT1 gene TAPT1 Expert Review Amber;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type (MIM#616897) 26365339 False 2 0;100;0 1.62 True ENSG00000169762 ENSG00000169762 HGNC:26887 TOPORS gene TOPORS Expert Review;Expert Review Amber Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal ciliopathy, MONDO:0005308, TOPORS-associated;postaxial polydactyly, MONDO:0020927, TOPORS-related;multiple lingual hamartomas 34132027 False 2 50;50;0 1.62 True ENSG00000197579 ENSG00000197579 HGNC:21653 VPS13B gene VPS13B Expert Review;Expert Review Amber Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Cohen syndrome (MIM# 216550)" False 2 0;100;0 1.62 True ENSG00000132549 ENSG00000132549 HGNC:2183 ZNF423 gene ZNF423 Expert Review Amber;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 19, OMIM# 614844;Nephronophthisis 14, OMIM:614844 22863007 False 2 0;50;50 1.62 True ENSG00000102935 ENSG00000102935 HGNC:16762 ZSWIM6 gene ZSWIM6 Expert Review;Expert Review Amber Ciliopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Acromelic frontonasal dysostosis (MIM#603671);Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM# 617865" 25105228;28213462;29198722 False 2 0;100;0 1.62 True Other ENSG00000130449 ENSG00000130449 HGNC:29316 ACVR2B gene ACVR2B Expert Review Red;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heterotaxy, visceral, 4, autosomal 613751 9916847;30622330;21864452 False 1 0;0;100 1.62 True ENSG00000114739 ENSG00000114739 HGNC:174 ARMC8 gene ARMC8 Expert Review Red;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes Unknown False 1 0;0;100 1.62 True ENSG00000114098 ENSG00000114098 HGNC:24999 CEP19 gene CEP19 Expert list;Expert Review Red;Literature Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndorme 29127258;24268657 False 1 0;0;100 1.62 True ENSG00000174007 ENSG00000174007 HGNC:28209 CFAP53 gene CFAP53 Expert Review Red;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Heterotaxy, visceral, 6, autosomal recessive 614779 28621423;22577226;26531781 False 1 0;0;100 1.62 True ENSG00000172361 ENSG00000172361 HGNC:26530 CFC1 gene CFC1 Expert Review Red;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heterotaxy, visceral, 2, autosomal 605376 31633655;18162845;25423076;11062482 False 1 0;0;100 1.62 True ENSG00000136698 ENSG00000136698 HGNC:18292 CRELD1 gene CRELD1 Expert Review Red;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Atrioventricular septal defect, partial, with heterotaxy syndrome 606217 22740159 False 1 0;0;100 1.62 True ENSG00000163703 ENSG00000163703 HGNC:14630 GDF1 gene GDF1 Expert Review Red;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Congenital heart defects, multiple types, 6 613854;Right atrial isomerism (Ivemark) 208530 32144877 False 1 0;0;100 1.62 True ENSG00000130283 ENSG00000130283 HGNC:4214 MUC1 gene MUC1 Expert Review Red;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Medullary cystic kidney disease 1 (MIM#174000) 29186029;29156055;29520014 False 1 0;0;100 1.62 True ENSG00000185499 ENSG00000185499 HGNC:7508 NODAL gene NODAL Expert Review Red;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Heterotaxy, visceral, 5 (MIM#270100) False 1 0;0;100 1.62 True ENSG00000156574 ENSG00000156574 HGNC:7865 PMM2 gene PMM2 Expert Review;Expert Review Red Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia (MIM#212065) 28108845 False 1 0;50;50 1.62 True ENSG00000140650 ENSG00000140650 HGNC:9115 SCNN1G gene SCNN1G Expert Review;Expert Review Red Ciliopathies Dysmorphic and congenital abnormality syndromes BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bronchiectasis with or without elevated sweat chloride 3 (MIM#613071);Liddle syndrome 2 (MIM#618114);Pseudohypoaldosteronism, type I (MIM#264350) 22207244;31655555;30801930;28484659 False 1 0;50;50 1.62 True ENSG00000166828 ENSG00000166828 HGNC:10602 TRIM32 gene TRIM32 Expert Review Red;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 11, MIM# 615988 16606853 False 1 0;0;100 1.62 True ENSG00000119401 ENSG00000119401 HGNC:16380 WDR81 gene WDR81 Expert list;Expert Review Red;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes BIALLELIC, autosomal or pseudoautosomal "Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2 610185;Hydrocephalus, congenital, 3, with brain anomalies 617967" PMID: 28556411;21885617 False 1 0;0;100 1.62 True ENSG00000167716 ENSG00000167716 HGNC:26600 ZIC3 gene ZIC3 Expert Review Red;Victorian Clinical Genetics Services Ciliopathies Dysmorphic and congenital abnormality syndromes X-LINKED: hemizygous mutation in males, biallelic mutations in females Heterotaxy, visceral, 1, X-linked (MIM#306955) 27406248;20452998 False 1 50;0;50 1.62 True ENSG00000156925 ENSG00000156925 HGNC:12874