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 Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 3;Joubert syndrome;Joubert syndrome-3. False 3 100;0;0 5.22 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 Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Alstrom Syndrome;Bardet-Biedl Syndrome;203800;Alstrom syndrome 22773737 False 3 0;0;100 5.22 False ENSG00000116127 ENSG00000116127 HGNC:428 ARL13B gene ARL13B Expert list;Expert Review Green;Other Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 8 18674751;25138100 False 3 100;0;0 5.22 False ENSG00000169379 ENSG00000169379 HGNC:25419 ARL3 gene ARL3 Expert list;Expert Review Green;NHS GMS Ophthalmological ciliopathies Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 35, OMIM:61816;cone-rod dystrophy, MONDO:0015993;Retinitis pigmentosa 83, OMIM:618173 30269812;16565502;33748123;31743939;26964041;30932721;34485303 False 3 100;0;0 5.22 False ENSG00000138175 ENSG00000138175 HGNC:694 ARL6 gene ARL6 Eligibility statement prior genetic testing;Expert list;Expert Review Green Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal {Bardet Biedl syndrome 1, modifier of};Bardet-Biedl Syndrome;268000;Bardet Biedl syndrome 3 15258860;21282186 False 3 100;0;0 5.22 False ENSG00000113966 ENSG00000113966 HGNC:13210 ARMC9 gene ARMC9 Expert Review Green;Literature Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30, 617622 28625504 False 3 100;0;0 5.22 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 Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 34, OMIM:614175;Meckel syndrome 10, OMIM:614175;Meckel syndrome, type 10, MONDO:0013609 21763481;26092869 False 3 0;0;100 5.22 False ENSG00000123810 ENSG00000123810 HGNC:28636 BBS1 gene BBS1 Eligibility statement prior genetic testing;Expert list;Expert Review Green Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 13;268000;Bardet Biedl syndrome 1;Bardet Biedl syndrome 11 23143442;12118255 False 3 100;0;0 5.22 False ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Eligibility statement prior genetic testing;Expert list;Expert Review Green Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 10 16582908 False 3 100;0;0 5.22 False ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Eligibility statement prior genetic testing;Expert list;Expert Review Green Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 12 17160889 False 3 100;0;0 5.22 False ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Eligibility statement prior genetic testing;Expert list;Expert Review Green Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 2 11285252 False 3 100;0;0 5.22 False ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Eligibility statement prior genetic testing;Expert list;Expert Review Green Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 4 11381270;22353939 False 3 100;0;0 5.22 False ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Eligibility statement prior genetic testing;Expert list;Expert Review Green Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 5 15137946 False 3 100;0;0 5.22 False ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Eligibility statement prior genetic testing;Expert list;Expert Review Green Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 7 12567324 False 3 100;0;0 5.22 False ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Eligibility statement prior genetic testing;Expert list;Expert Review Green Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 9 16380913 False 3 100;0;0 5.22 False ENSG00000122507 ENSG00000122507 HGNC:30000 C21orf2 gene C21orf2 Expert list;Expert Review Green Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Jeune asphyxiating thoracic dystrophy (JATD);Jeune Syndrome;Spondylometaphyseal dysplasia, axial, 602271;Retinal dystrophy with macular staphyloma, 617547 26974433;27548899;23105016;26167768 False 3 100;0;0 5.22 False ENSG00000160226 ENSG00000160226 HGNC:1260 C5orf42 gene C5orf42 Expert list;Expert Review Green;Other Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Oral-facial-digital syndrome type VI;Joubert syndrome 17 22693042;25920555;22425360 False 3 100;0;0 5.22 False ENSG00000197603 ENSG00000197603 HGNC:25801 C8orf37 gene C8orf37 Expert Review Green;Other Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 21, OMIM:617406, MONDO:0044308;Cone-rod dystrophy 16, OMIM:614500, MONDO:0013786;Retinitis pigmentosa 64, OMIM:614500, MONDO:0019200 26854863;27008867;22177090;25113443;26865426;25802487 False 3 100;0;0 5.22 False ENSG00000156172 ENSG00000156172 HGNC:27232 CC2D2A gene CC2D2A Eligibility statement prior genetic testing;Expert list;Expert Review Green;Orphanet;Other Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 9;COACH syndrome;Joubert syndrome with oculorenal defect;Meckel syndrome 6;Meckel syndrome False 3 100;0;0 5.22 False ENSG00000048342 ENSG00000048342 HGNC:29253 CENPF gene CENPF Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Stromme syndrome, OMIM:243605;Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome 26820108 False 3 100;0;0 5.22 False ENSG00000117724 ENSG00000117724 HGNC:1857 CEP104 gene CEP104 Expert Review Green;Other;Radboud University Medical Center, Nijmegen Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 25, 616781;Joubert syndrome 25 26477546 False 3 100;0;0 5.22 False ENSG00000116198 ENSG00000116198 HGNC:24866 CEP164 gene CEP164 Emory Genetics Laboratory;Expert list;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal ciliopathies;Nephronophthisis 15;Senior-Loken syndrome;Nephronophthisis 15, 614845 False 3 0;0;0 5.22 False ENSG00000110274 ENSG00000110274 HGNC:29182 CEP290 gene CEP290 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Orphanet;Other Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal 610189;Meckel syndrome 4;Senior-Loken syndrome;611755;Joubert syndrome 5;Joubert syndrome with oculorenal defect;610188;Senior-Loken syndrome 6;611134;Meckel syndrome 20690115;18327255 False 3 50;0;50 5.22 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP41 gene CEP41 Expert list;Expert Review Green;Other Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 15 22246503 False 3 100;0;0 5.22 False ENSG00000106477 ENSG00000106477 HGNC:12370 CSPP1 gene CSPP1 Expert list;Expert Review Green;Orphanet;Other Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Meckel syndrome;Joubert syndrome 21;Meckel-Gruber syndrome 24360807;24360803;24360808 False 3 100;0;0 5.22 False ENSG00000104218 ENSG00000104218 HGNC:26193 DDX59 gene DDX59 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome V, 174300 29127725;23972372;28711741 False 3 50;0;50 5.22 False ENSG00000118197 ENSG00000118197 HGNC:25360 FAM149B1 gene FAM149B1 Expert Review Green;Literature;NHS GMS Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 36, OMIM:618763 30905400;34828254 False 3 67;33;0 5.22 False ENSG00000138286 ENSG00000138286 HGNC:29162 GLI3 gene GLI3 Expert list;Expert Review Green;UKGTN Ophthalmological ciliopathies Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Greig cephalopolysyndactyly syndrome, OMIM:175700;Pallister-Hall syndrome, OMIM:146510 False 3 0;0;0 5.22 False ENSG00000106571 ENSG00000106571 HGNC:4319 HYLS1 gene HYLS1 Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Hydrolethalus syndrome, 236680 18648327;26830932;19656802;15843405 False 3 0;0;0 5.22 False ENSG00000198331 ENSG00000198331 HGNC:26558 IFT172 gene IFT172 Expert list;Expert Review Green;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinitis pigmentosa 71, 616394;Short-rib thoracic dysplasia 10 with or without polydactyly;Saldino-Mainzer syndrome;Jeune syndrome;Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 24140113 False 3 100;0;0 5.22 False ENSG00000138002 ENSG00000138002 HGNC:30391 IFT27 gene IFT27 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 19, OMIM:615996 24488770;29704304;30761183;29588463 False 3 100;0;0 5.22 False ENSG00000100360 ENSG00000100360 HGNC:18626 IFT74 gene IFT74 Expert Review Green;Other Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 20, 617119 27486776;32144365 False 3 0;0;100 5.22 False ENSG00000096872 ENSG00000096872 HGNC:21424 INPP5E gene INPP5E Expert list;Expert Review Green;Other Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Joubert syndrome 1 23386033;26748598 False 3 100;0;0 5.22 False ENSG00000148384 ENSG00000148384 HGNC:21474 IQCB1 gene IQCB1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 5, 609254;Senior-Loken syndrome False 3 0;0;0 5.22 False ENSG00000173226 ENSG00000173226 HGNC:28949 KIAA0556 gene KIAA0556 Expert Review Green;NHS GMS;Other Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 26, OMIM:616784;Joubert syndrome 26, MONDO:0014771 26714646;27245168;31197031;31197031;36580738;40725402;40428346;32164589;30982090 False 3 100;0;0 5.22 False ENSG00000047578 ENSG00000047578 HGNC:29068 KIAA0586 gene KIAA0586 Expert list;Expert Review Green;Other Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 23;Joubert syndrome;Short-rib thoracic dysplasia 14 with polydactyly;Short-rib dysplasia 14 with polydactyly 26096313 False 3 100;0;0 5.22 False ENSG00000100578 ENSG00000100578 HGNC:19960 KIF7 gene KIF7 Emory Genetics Laboratory;Expert list;Expert Review Green;Other;Radboud University Medical Center, Nijmegen;UKGTN Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 12 200990;Acrocallosal syndrome 200990 21633164 False 3 100;0;0 5.22 False ENSG00000166813 ENSG00000166813 HGNC:30497 LAMA1 gene LAMA1 Expert Review;Expert Review Green;NHS GMS Ophthalmological ciliopathies Ophthalmology 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 5.22 False ENSG00000101680 ENSG00000101680 HGNC:6481 LZTFL1 gene LZTFL1 Emory Genetics Laboratory;Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 17, 615994 22510444;27312011;23692385 False 3 0;0;100 5.22 False ENSG00000163818 ENSG00000163818 HGNC:6741 MKKS gene MKKS Eligibility statement prior genetic testing;Expert list;Expert Review Green Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 6;236700 10802661;10973251;10973238 False 3 100;0;0 5.22 False ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Orphanet;Other Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal occipital encephalocele;Joubert syndrome;Bardet-Biedl syndrome;Joubert syndrome 28;249000;polydactyly;polycystic kidneys;Meckel-Gruber syndrome;Meckel syndrome;renal fibrosis 26490104;17437276;18327255;24886560;16415886 False 3 67;0;33 5.22 False ENSG00000011143 ENSG00000011143 HGNC:7121 NPHP1 gene NPHP1 Emory Genetics Laboratory;Expert list;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 4;Senior-Loken syndrome;256100 Senior-Loken syndrome-1, 266900;609583 Nephronophthisis 1, juvenile;Nephronophthisis 15138899;22982934;15689444 False 3 100;0;0 5.22 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 Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Renal-hepatic-pancreatic dysplasia;Senior-Loken syndrome;Nephronophthisis 3, 604387;Meckel syndrome 7, 267010;Renal-hepatic-pancreatic dysplasia 1, 208540;Nephronophthisis False 3 0;0;0 5.22 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 Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome;Nephronophthisis;Senior-Loken syndrome 4, 606996;Nephronophthisis 4, 606966 False 3 0;0;0 5.22 False ENSG00000131697 ENSG00000131697 HGNC:19104 OFD1 gene OFD1 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other Ophthalmological ciliopathies Ophthalmology X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Joubert syndrome 10;X-linked Joubert syndrome;Orofaciodigital syndrome I 19800048;22353940 False 3 100;0;0 5.22 False ENSG00000046651 ENSG00000046651 HGNC:2567 PMM2 gene PMM2 Expert Review Green;Literature Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia 212065 9140401 False 3 100;0;0 5.22 False ENSG00000140650 ENSG00000140650 HGNC:9115 POC5 gene POC5 Expert Review Green;Literature;NHS GMS Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy;diabetes mellitus;lipodystrophy;renal failure;abnormal muscle physiology 29272404;40590205 False 3 100;0;0 5.22 False ENSG00000152359 ENSG00000152359 HGNC:26658 RPGRIP1L gene RPGRIP1L Expert list;Expert Review Green;Orphanet;Other Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 7;Meckel syndrome 5;Joubert syndrome;Meckel syndrome;Meckel-Gruber syndrome 17558409;17558407;19574260 False 3 100;0;0 5.22 False ENSG00000103494 ENSG00000103494 HGNC:29168 SCLT1 gene SCLT1 Expert list;Expert Review Green;Radboud University Medical Center, Nijmegen Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Oro-facio-digital syndrome type IX (Adly (2014) Hum Mutat 35,36);No OMIM phenotype 15797711 False 3 50;0;50 5.22 False ENSG00000151466 ENSG00000151466 HGNC:26406 SDCCAG8 gene SDCCAG8 Expert list;Expert Review Green;Orphanet Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal SENIOR-LOKEN SYNDROME;Bardet-Biedl Syndrome;613615;Senior-Loken syndrome 22190896 False 3 100;0;0 5.22 False ENSG00000054282 ENSG00000054282 HGNC:10671 SUFU gene SUFU Expert list;Expert Review Green;NHS GMS Ophthalmological ciliopathies Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 32, OMIM:617757 21289193;28965847;33024317;34675124 False 3 75;25;0 5.22 False ENSG00000107882 ENSG00000107882 HGNC:16466 TBC1D32 gene TBC1D32 Expert list;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Ophthalmological ciliopathies Ophthalmology 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 5.22 False ENSG00000146350 ENSG00000146350 HGNC:21485 TCTN1 gene TCTN1 Expert list;Expert Review Green Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20301500;22693042;26489806;21725307;26477546;28631893 False 3 100;0;0 5.22 False ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN2 gene TCTN2 Expert list;Expert Review Green;Orphanet;Other Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Meckel syndrome;Joubert syndrome 24;Joubert syndrome, Meckel-Gruber syndrome 25118024;21565611 False 3 100;0;0 5.22 False ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Expert list;Expert Review Green;Other Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Orofaciodigital syndrome IV;Joubert syndrome 18;Meckel-Gruber;Mohr-Majewski syndrome 25118024;22883145 False 3 100;0;0 5.22 False ENSG00000119977 ENSG00000119977 HGNC:24519 TMEM107 gene TMEM107 Expert list;Expert Review Green Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 13, 617562;?Joubert syndrome 29, 617562;Orofaciodigital syndrome XVI, 617563 26518474;26123494;22698544;26595381 False 3 0;0;0 5.22 False ENSG00000179029 ENSG00000179029 HGNC:28128 TMEM138 gene TMEM138 Expert list;Expert Review Green;Orphanet;Other Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome with oculorenal defect;Joubert syndrome 16 22282472 False 3 100;0;0 5.22 False ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM216 gene TMEM216 Expert list;Expert Review Green;Orphanet;Other Ophthalmological ciliopathies Ophthalmology 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 5.22 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM218 gene TMEM218 Expert Review Green;Literature Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 39, OMIM:619562 25161209;33791682;35137054 False 3 100;0;0 5.22 False ENSG00000150433 ENSG00000150433 HGNC:27344 TMEM231 gene TMEM231 Emory Genetics Laboratory;Expert list;Expert Review Green;Orphanet;Other;Radboud University Medical Center, Nijmegen Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Meckel syndrome;Joubert syndrome 20;Joubert syndrome with oculorenal defect;Joubert syndrome 20, 614970;Meckel syndrome 11, 615397 False 3 0;0;0 5.22 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert list;Expert Review Green;Orphanet;Other Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Joubert syndrome with oculorenal defect;Joubert syndrome 14 22152675;20301500 False 3 100;0;0 5.22 False ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM67 gene TMEM67 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Orphanet;Other Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;nephronophthisis;COACH syndrome;Joubert syndrome 6;?Bardet-Biedl syndrome?;Senior-Boichis syndrome;613550;607361;Meckel-Gruber syndrome;Meckel syndrome;610688;Nephronophthisis 11;216360 20607301;17160906;18327255;19058225;19508969;16415887 False 3 67;0;33 5.22 False ENSG00000164953 ENSG00000164953 HGNC:28396 TRAF3IP1 gene TRAF3IP1 Expert Review Green;Orphanet Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 9 616629 26487268 False 3 100;0;0 5.22 False ENSG00000204104 ENSG00000204104 HGNC:17861 TTC8 gene TTC8 Eligibility statement prior genetic testing;Expert list;Expert Review Green Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 8 14520415 False 3 100;0;0 5.22 False ENSG00000165533 ENSG00000165533 HGNC:20087 VPS13B gene VPS13B Expert Review;Expert Review Green Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Cohen syndrome, 216550;COHEN SYNDROME False 3 100;0;0 5.22 False ENSG00000132549 ENSG00000132549 HGNC:2183 WDPCP gene WDPCP Emory Genetics Laboratory;Expert list;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 15, 615992;Meckel syndrome;?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 20671153 False 3 0;0;100 5.22 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 Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 13, 614377;?Short-rib thoracic dysplasia 5 with or without polydactyly;Senior-Loken syndrome 8, 616307;Cranioectodermal dysplasia;?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376;Jeune syndrome;Senior-Loken syndrome;?Cranioectodermal dysplasia 4, 614378;Nephronophthisis False 3 0;0;0 5.22 False ENSG00000157796 ENSG00000157796 HGNC:18340 BBIP1 gene BBIP1 Expert list;Expert Review Amber;Radboud University Medical Center, Nijmegen;UKGTN Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 18, OMIM:615995 24026985;32055034;37239474 False 2 100;0;0 5.22 False ENSG00000214413 ENSG00000214413 HGNC:28093 CEP76 gene CEP76 Expert Review Amber;Literature Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal ciliopathy, MONDO:0005308;Joubert syndrome, MONDO:0018772;Bardet-Biedl syndrome, MONDO:0015229 41105778 False 2 100;0;0 5.22 False ENSG00000101624 ENSG00000101624 HGNC:25727 KIF3B gene KIF3B Expert Review Amber;Literature Ophthalmological ciliopathies Ophthalmology MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hepatic fibrosis;Retinitis pigmentosa 89, OMIM:618955, MONDO:0030071;postaxial polydactyly 32386558 False 2 0;100;0 5.22 False ENSG00000101350 ENSG00000101350 HGNC:6320 LRRC45 gene LRRC45 Expert Review Amber;Literature Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal ciliopathy, MONDO:0005308;Abnormal brain morphology, HP:0012443;neurodevelopmental disorder, MONDO:0700092 30131441;34716235;39638757 False 2 0;100;0 5.22 False ENSG00000169683 ENSG00000169683 HGNC:28302 MDM1 gene MDM1 Expert Review Amber;Literature Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy, HP:0000556 41742423 False 2 100;0;0 5.22 False Other ENSG00000111554 ENSG00000111554 HGNC:29917 POC1B gene POC1B Expert list;Expert Review Amber;UKGTN Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal Senior-Loken Syndrome 24 gene panel;Cone-rod dystrophy 20 615973;Joubert Syndrome;AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY 29377742;25044745;29220607;25018096;24945461 False 2 50;0;50 5.22 False ENSG00000139323 ENSG00000139323 HGNC:30836 ZNF423 gene ZNF423 Emory Genetics Laboratory;Expert list;Expert Review Amber;Orphanet;Other;Radboud University Medical Center, Nijmegen Ophthalmological ciliopathies Ophthalmology BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 19, OMIM:614844;Nephronophthisis 14, OMIM:614844 22863007 False 2 0;0;100 5.22 False ENSG00000102935 ENSG00000102935 HGNC:16762 AIPL1 gene AIPL1 Emory Genetics Laboratory;Expert Review Red Ophthalmological ciliopathies Ophthalmology Ciliopathies False 1 0;0;0 5.22 False ENSG00000129221 ENSG00000129221 HGNC:359 B9D1 gene B9D1 Emory Genetics Laboratory;Expert list;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Orphanet;Other;Radboud University Medical Center, Nijmegen;UKGTN Ophthalmological ciliopathies Ophthalmology 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 5.22 False ENSG00000108641 ENSG00000108641 HGNC:24123 C2orf71 gene C2orf71 Emory Genetics Laboratory;Expert Review Red Ophthalmological ciliopathies Ophthalmology Ciliopathies False 1 0;0;0 5.22 False ENSG00000179270 ENSG00000179270 HGNC:34383 CCDC28B gene CCDC28B Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal ciliopathies;{Bardet-Biedl syndrome 1, modifier of}, 209900 23015189 False 1 0;100;0 5.22 False ENSG00000160050 ENSG00000160050 HGNC:28163 CRB1 gene CRB1 Emory Genetics Laboratory;Expert Review Red Ophthalmological ciliopathies Ophthalmology Ciliopathies False 1 0;0;0 5.22 False ENSG00000134376 ENSG00000134376 HGNC:2343 CRX gene CRX Emory Genetics Laboratory;Expert Review Red Ophthalmological ciliopathies Ophthalmology Ciliopathies False 1 0;0;0 5.22 False ENSG00000105392 ENSG00000105392 HGNC:2383 EXOC8 gene EXOC8 Expert Review Red;Radboud University Medical Center, Nijmegen Ophthalmological ciliopathies Ophthalmology No OMIM phenotype;Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78) 22700954 False 1 0;0;100 5.22 False ENSG00000116903 ENSG00000116903 HGNC:24659 GUCY2D gene GUCY2D Emory Genetics Laboratory;Expert Review Red Ophthalmological ciliopathies Ophthalmology Ciliopathies False 1 0;0;0 5.22 False ENSG00000132518 ENSG00000132518 HGNC:4689 IMPDH1 gene IMPDH1 Emory Genetics Laboratory;Expert Review Red Ophthalmological ciliopathies Ophthalmology Ciliopathies False 1 0;0;0 5.22 False ENSG00000106348 ENSG00000106348 HGNC:6052 KCNJ13 gene KCNJ13 Emory Genetics Laboratory;Expert Review Red Ophthalmological ciliopathies Ophthalmology Ciliopathies False 1 0;0;0 5.22 False ENSG00000115474 ENSG00000115474 HGNC:6259 LCA5 gene LCA5 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Ophthalmological ciliopathies Ophthalmology Leber congenital amaurosis 5, 604537;Ciliopathies False 1 0;0;0 5.22 False ENSG00000135338 ENSG00000135338 HGNC:31923 LRAT gene LRAT Emory Genetics Laboratory;Expert Review Red Ophthalmological ciliopathies Ophthalmology Ciliopathies False 1 0;0;0 5.22 False ENSG00000121207 ENSG00000121207 HGNC:6685 PDE6D gene PDE6D Expert list;Expert Review Red;Other;Radboud University Medical Center, Nijmegen;UKGTN Ophthalmological ciliopathies Ophthalmology 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 5.22 False ENSG00000156973 ENSG00000156973 HGNC:8788 PIBF1 gene PIBF1 Expert Review;Expert Review Red;Literature;Research Ophthalmological ciliopathies Ophthalmology 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 5.22 False ENSG00000083535 ENSG00000083535 HGNC:23352 RD3 gene RD3 Emory Genetics Laboratory;Expert Review Red Ophthalmological ciliopathies Ophthalmology Ciliopathies False 1 0;0;0 5.22 False ENSG00000198570 ENSG00000198570 HGNC:19689 RDH12 gene RDH12 Emory Genetics Laboratory;Expert Review Red Ophthalmological ciliopathies Ophthalmology Ciliopathies False 1 0;0;0 5.22 False ENSG00000139988 ENSG00000139988 HGNC:19977 RPE65 gene RPE65 Emory Genetics Laboratory;Expert Review Red Ophthalmological ciliopathies Ophthalmology Ciliopathies False 1 0;0;0 5.22 False ENSG00000116745 ENSG00000116745 HGNC:10294 RPGR gene RPGR Emory Genetics Laboratory;Expert list;Expert Review Red Ophthalmological ciliopathies Ophthalmology 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 5.22 False ENSG00000156313 ENSG00000156313 HGNC:10295 RPGRIP1 gene RPGRIP1 Emory Genetics Laboratory;Expert Review Red;Orphanet Ophthalmological ciliopathies Ophthalmology Meckel syndrome;Ciliopathies False 1 0;0;0 5.22 False ENSG00000092200 ENSG00000092200 HGNC:13436 SPATA7 gene SPATA7 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Ophthalmological ciliopathies Ophthalmology Leber congenital amaurosis 3, 604232;Ciliopathies;Retinitis pigmentosa, juvenile, autosomal recessive, 604232 False 1 0;0;0 5.22 False ENSG00000042317 ENSG00000042317 HGNC:20423 TOPORS gene TOPORS Emory Genetics Laboratory;Expert Review Red Ophthalmological ciliopathies Ophthalmology Ciliopathies False 1 0;0;0 5.22 False ENSG00000197579 ENSG00000197579 HGNC:21653 TRIM32 gene TRIM32 Emory Genetics Laboratory;Expert list;Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Ophthalmological ciliopathies Ophthalmology BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 11, 615988;Muscular dystrophy, limb-girdle, type 2H, 254110 11822024;16606853 False 1 0;0;100 5.22 False ENSG00000119401 ENSG00000119401 HGNC:16380 TULP1 gene TULP1 Emory Genetics Laboratory;Expert Review Red;Radboud University Medical Center, Nijmegen Ophthalmological ciliopathies Ophthalmology Retinitis pigmentosa 14, 600132;Leber congenital amaurosis 15, 613843;Ciliopathies False 1 0;0;0 5.22 False ENSG00000112041 ENSG00000112041 HGNC:12423