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 AIPL1 gene AIPL1 Expert Review Red;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty Ciliopathies False 1 0;0;0 21.70 False ENSG00000129221 ENSG00000129221 HGNC:359 ARMC9 gene ARMC9 Expert Review Red;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30, OMIM:617622 28625504 False 1 50;0;50 21.70 False ENSG00000135931 ENSG00000135931 HGNC:20730 B9D1 gene B9D1 Illumina TruGenome Clinical Sequencing Services;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Expert Review Red;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 9, OMIM:614209;Meckel syndrome 9, MONDO:0013630;Joubert syndrome 27, OMIM:617120;Joubert syndrome 27, MONDO:0014927 21493627;25920555;24886560 False 1 0;0;100 21.70 False ENSG00000108641 ENSG00000108641 HGNC:24123 B9D1 gene B9D1 Illumina TruGenome Clinical Sequencing Services;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Expert Review Red;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 9, OMIM:614209;Meckel syndrome 9, MONDO:0013630;Joubert syndrome 27, OMIM:617120;Joubert syndrome 27, MONDO:0014927 21493627 (case report, with an additional variant in the CEP290 gene suggesting oligogenetic inheritance);24886560 (2 cases with Joubert);25920555 (report a case with heterozygous mutations in CC2D2A and B9D1) False 1 0;0;100 21.70 False ENSG00000108641 ENSG00000108641 HGNC:24123 B9D1 gene B9D1 Illumina TruGenome Clinical Sequencing Services;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Expert Review Red;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 9, OMIM:614209;Meckel syndrome 9, MONDO:0013630;Joubert syndrome 27, OMIM:617120;Joubert syndrome 27, MONDO:0014927 21493627 (case report, with an additional variant in the CEP290 gene suggesting oligogenetic inheritance);24886560 (2 cases with Joubert);25920555 (report a case with heterozygous mutations in CC2D2A and B9D1) False 1 0;0;100 21.70 False ENSG00000108641 ENSG00000108641 HGNC:24123 B9D1 gene B9D1 Expert Review Red Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 9, OMIM:614209;Meckel syndrome 9, MONDO:0013630;Joubert syndrome 27, OMIM:617120;Joubert syndrome 27, MONDO:0014927 21493627 (case report, with an additional variant in the CEP290 gene suggesting oligogenetic inheritance);24886560 (2 cases with Joubert);25920555 (report a case with heterozygous mutations in CC2D2A and B9D1) False 1 0;0;100 21.70 False ENSG00000108641 ENSG00000108641 HGNC:24123 C2orf71 gene C2orf71 Expert Review Red;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty Ciliopathies False 1 0;0;0 21.70 False ENSG00000179270 ENSG00000179270 HGNC:34383 C8orf37 gene C8orf37 Expert Review Red;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 21, 617406 26854863;27008867 False 1 0;0;0 21.70 False ENSG00000156172 ENSG00000156172 HGNC:27232 CCDC28B gene CCDC28B Expert Review Red;Expert list Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome, MONDO:0018772 32139166;23727834 False 1 0;50;50 21.70 False ENSG00000160050 ENSG00000160050 HGNC:28163 CCDC28B gene CCDC28B UKGTN;Expert Review Red;Expert list;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal ciliopathies;{Bardet-Biedl syndrome 1, modifier of}, 209900 23015189 False 1 0;100;0 21.70 False ENSG00000160050 ENSG00000160050 HGNC:28163 CCDC28B gene CCDC28B UKGTN;Expert Review Red;Expert list;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal ciliopathies;{Bardet-Biedl syndrome 1, modifier of}, 209900 23015189 False 1 0;100;0 21.70 False ENSG00000160050 ENSG00000160050 HGNC:28163 CRB1 gene CRB1 Expert Review Red;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty Ciliopathies False 1 0;0;0 21.70 False ENSG00000134376 ENSG00000134376 HGNC:2343 CRX gene CRX Expert Review Red;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty Ciliopathies False 1 0;0;0 21.70 False ENSG00000105392 ENSG00000105392 HGNC:2383 EXOC3L2 gene EXOC3L2 Expert Review Red;Expert list;Expert Review Red;Expert list Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Brain malformation renal syndrome, OMIM:620943 28749478;27894351 False 1 0;0;100 21.70 False ENSG00000130201 ENSG00000283632 HGNC:30162 EXOC8 gene EXOC8 Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy Super panel Multispecialty No OMIM phenotype;Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78) 22700954 False 1 0;0;100 21.70 False ENSG00000116903 ENSG00000116903 HGNC:24659 EXOC8 gene EXOC8 Expert Review Red;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy Super panel Multispecialty No OMIM phenotype;Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78) 22700954 False 1 0;0;100 21.70 False ENSG00000116903 ENSG00000116903 HGNC:24659 EXOC8 gene EXOC8 Expert Review Red Rare multisystem ciliopathy Super panel Multispecialty Unknown No OMIM phenotype;Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78) 22700954 False 1 0;0;100 21.70 False ENSG00000116903 ENSG00000116903 HGNC:24659 GUCY2D gene GUCY2D Expert Review Red;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty Ciliopathies False 1 0;0;0 21.70 False ENSG00000132518 ENSG00000132518 HGNC:4689 IFT74 gene IFT74 Expert Review Red;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 20, 617119 27486776 False 1 0;0;100 21.70 False ENSG00000096872 ENSG00000096872 HGNC:21424 IMPDH1 gene IMPDH1 Expert Review Red;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty Ciliopathies False 1 0;0;0 21.70 False ENSG00000106348 ENSG00000106348 HGNC:6052 KCNJ13 gene KCNJ13 Expert Review Red;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty Ciliopathies False 1 0;0;0 21.70 False ENSG00000115474 ENSG00000115474 HGNC:6259 KIAA0556 gene KIAA0556 Expert Review Red;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 26, OMIM:616784;Joubert syndrome 26, MONDO:0014771 29765138;27245168;26714646 False 1 0;0;0 21.70 False ENSG00000047578 ENSG00000047578 HGNC:29068 KIF14 gene KIF14 Expert Review Red Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 12, OMIM:616258;Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 24128419 False 1 0;100;0 21.70 False ENSG00000118193 ENSG00000118193 HGNC:19181 LCA5 gene LCA5 Expert Review Red;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy Super panel Multispecialty Leber congenital amaurosis 5, 604537;Ciliopathies False 1 0;0;0 21.70 False ENSG00000135338 ENSG00000135338 HGNC:31923 LRAT gene LRAT Expert Review Red;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty Ciliopathies False 1 0;0;0 21.70 False ENSG00000121207 ENSG00000121207 HGNC:6685 MUC1 gene MUC1 Expert Review Red;Expert list;UKGTN Rare multisystem ciliopathy Super panel Multispecialty MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel False 1 0;0;0 21.70 False ENSG00000185499 ENSG00000185499 HGNC:7508 PDE6D gene PDE6D Expert Review Red Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal ?Joubert syndrome 22;Joubert Syndrome and Senior-Loken Syndrome 24 gene panel;?Joubert syndrome 22, 615665 24166846 False 1 0;50;50 21.70 False ENSG00000156973 ENSG00000156973 HGNC:8788 PDE6D gene PDE6D Expert Review Red;Expert list;Radboud University Medical Center, Nijmegen;Other;UKGTN Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal ?Joubert syndrome 22;Joubert Syndrome and Senior-Loken Syndrome 24 gene panel;?Joubert syndrome 22, 615665 24166846 False 1 0;50;50 21.70 False ENSG00000156973 ENSG00000156973 HGNC:8788 PDE6D gene PDE6D Expert Review Red;Expert list;Radboud University Medical Center, Nijmegen;Other;UKGTN Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal ?Joubert syndrome 22;Joubert Syndrome and Senior-Loken Syndrome 24 gene panel;?Joubert syndrome 22, 615665 24166846 False 1 0;25;75 21.70 False ENSG00000156973 ENSG00000156973 HGNC:8788 PIBF1 gene PIBF1 Expert Review Red;Expert Review;Literature;Research Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;ataxia;vermis hypoplasia;developmental delay;thick superior cerebellar peduncles;superior cerebellar dysplasia 26167768;29695797;30858804 False 1 0;0;0 21.70 False ENSG00000083535 ENSG00000083535 HGNC:23352 PIBF1 gene PIBF1 Expert Review Red;Expert Review;Literature;Research Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;ataxia;vermis hypoplasia;developmental delay;thick superior cerebellar peduncles;superior cerebellar dysplasia 26167768;29695797;30858804 False 1 0;0;0 21.70 False ENSG00000083535 ENSG00000083535 HGNC:23352 PMM2 gene PMM2 NHS GMS;Expert Review Red;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia 212065 9140401 False 1 33;0;67 21.70 False ENSG00000140650 ENSG00000140650 HGNC:9115 RABL2A gene RABL2A Literature Rare multisystem ciliopathy Super panel Multispecialty Unknown polydactyly;growth retardation 33075816 False 1 0;0;100 21.70 False ENSG00000144134 ENSG00000144134 HGNC:9799 RABL2A gene RABL2A Literature Rare multisystem ciliopathy Super panel Multispecialty Unknown neural tube defects 33075816 False 1 0;0;100 21.70 False ENSG00000144134 ENSG00000144134 HGNC:9799 RD3 gene RD3 Expert Review Red;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty Ciliopathies False 1 0;0;0 21.70 False ENSG00000198570 ENSG00000198570 HGNC:19689 RDH12 gene RDH12 Expert Review Red;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty Ciliopathies False 1 0;0;0 21.70 False ENSG00000139988 ENSG00000139988 HGNC:19977 RPE65 gene RPE65 Expert Review Red;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty Ciliopathies False 1 0;0;0 21.70 False ENSG00000116745 ENSG00000116745 HGNC:10294 RPGR gene RPGR Expert Review Red;Expert list;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000156313 ENSG00000156313 HGNC:10295 RPGRIP1 gene RPGRIP1 Expert Review Red;Orphanet;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty Meckel syndrome;Ciliopathies False 1 0;0;0 21.70 False ENSG00000092200 ENSG00000092200 HGNC:13436 SEC63 gene SEC63 Expert Review Red;Expert list;UKGTN Rare multisystem ciliopathy Super panel Multispecialty MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel False 1 0;0;0 21.70 False ENSG00000025796 ENSG00000025796 HGNC:21082 SLC41A1 gene SLC41A1 Expert Review Red;Expert list Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 23661805 False 1 0;0;100 21.70 False ENSG00000133065 ENSG00000133065 HGNC:19429 SPATA7 gene SPATA7 Expert Review Red;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy Super panel Multispecialty Leber congenital amaurosis 3, 604232;Ciliopathies;Retinitis pigmentosa, juvenile, autosomal recessive, 604232 False 1 0;0;0 21.70 False ENSG00000042317 ENSG00000042317 HGNC:20423 TAPT1 gene TAPT1 Expert Review Red;Expert list Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897 26365339 False 1 0;0;100 21.70 False ENSG00000169762 ENSG00000169762 HGNC:26887 TAPT1 gene TAPT1 Expert Review Red Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Osteochondrodysplasia, complex lethal, Symoens-Barnes-Gistelinck type 616897 26365339 False 1 0;0;100 21.70 False ENSG00000169762 ENSG00000169762 HGNC:26887 TBC1D32 gene TBC1D32 Expert Review Red;Expert list;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy Super panel Multispecialty 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 1 0;0;0 21.70 False ENSG00000146350 ENSG00000146350 HGNC:21485 TBC1D32 gene TBC1D32 Expert Review Red Rare multisystem ciliopathy Super panel Multispecialty 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 1 0;0;0 21.70 False ENSG00000146350 ENSG00000146350 HGNC:21485 TOPORS gene TOPORS Expert Review Red;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty Ciliopathies False 1 0;0;0 21.70 False ENSG00000197579 ENSG00000197579 HGNC:21653 TRIM32 gene TRIM32 UKGTN;Expert Review Red;Expert list;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 11, 615988;Muscular dystrophy, limb-girdle, type 2H, 254110 11822024;16606853 False 1 0;0;100 21.70 False ENSG00000119401 ENSG00000119401 HGNC:16380 TRIM32 gene TRIM32 UKGTN;Expert Review Red;Expert list;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 11, 615988;Muscular dystrophy, limb-girdle, type 2H, 254110 11822024;16606853 False 1 0;0;100 21.70 False ENSG00000119401 ENSG00000119401 HGNC:16380 TULP1 gene TULP1 Expert Review Red;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy Super panel Multispecialty Retinitis pigmentosa 14, 600132;Leber congenital amaurosis 15, 613843;Ciliopathies False 1 0;0;0 21.70 False ENSG00000112041 ENSG00000112041 HGNC:12423 UMOD gene UMOD Expert Review Red;Expert list;Emory Genetics Laboratory;UKGTN Rare multisystem ciliopathy Super panel Multispecialty MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel False 1 0;0;0 21.70 False ENSG00000169344 ENSG00000169344 HGNC:12559 WDR63 gene WDR63 Expert Review Red Rare multisystem ciliopathy Super panel Multispecialty MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown occipital encephalocele and inconsistent brain lobulation;ciliopathy-like disorder False 1 0;0;0 21.70 False ENSG00000162643 ENSG00000162643 HGNC:30711