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 Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 3;Joubert syndrome;Joubert syndrome-3. False 3 100;0;0 21.70 False ENSG00000135541 ENSG00000135541 HGNC:21575 AHI1 gene AHI1 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 3;Joubert syndrome;Joubert syndrome-3. False 3 100;0;0 21.70 False ENSG00000135541 ENSG00000135541 HGNC:21575 AHI1 gene AHI1 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 3;Joubert syndrome;Joubert syndrome-3. False 3 100;0;0 21.70 False ENSG00000135541 ENSG00000135541 HGNC:21575 ALMS1 gene ALMS1 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Eligibility statement prior genetic testing;UKGTN;Expert list Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl Syndrome;Alstrom syndrome, OMIM:203800 22773737 False 3 0;0;100 21.70 False ENSG00000116127 ENSG00000116127 HGNC:428 ALMS1 gene ALMS1 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Eligibility statement prior genetic testing;UKGTN;Expert list Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Alstrom Syndrome;Bardet-Biedl Syndrome;203800;Alstrom syndrome 22773737 False 3 0;0;100 21.70 False ENSG00000116127 ENSG00000116127 HGNC:428 ANKS6 gene ANKS6 Orphanet;Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel;Nephronophthisis 16, OMIM:615382 23793029;34740236 False 3 100;0;0 21.70 False ENSG00000165138 ENSG00000165138 HGNC:26724 ARL13B gene ARL13B Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 8 18674751;25138100 False 3 100;0;0 21.70 False ENSG00000169379 ENSG00000169379 HGNC:25419 ARL13B gene ARL13B Expert Review Green;Expert list;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 8 18674751;25138100 False 3 100;0;0 21.70 False ENSG00000169379 ENSG00000169379 HGNC:25419 ARL13B gene ARL13B Expert Review Green;Expert list;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 8 18674751;25138100 False 3 100;0;0 21.70 False ENSG00000169379 ENSG00000169379 HGNC:25419 ARL3 gene ARL3 NHS GMS;Expert Review Green;Expert list Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000138175 ENSG00000138175 HGNC:694 ARL6 gene ARL6 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000113966 ENSG00000113966 HGNC:13210 ARL6 gene ARL6 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000113966 ENSG00000113966 HGNC:13210 ARMC9 gene ARMC9 Expert Review Green;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30, 617622 28625504 False 3 100;0;0 21.70 False ENSG00000135931 ENSG00000135931 HGNC:20730 ARMC9 gene ARMC9 Expert Review Green;Literature;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30, 617622 28625504 False 3 100;0;0 21.70 False ENSG00000135931 ENSG00000135931 HGNC:20730 B9D2 gene B9D2 Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 34, OMIM:614175;Meckel syndrome 10, OMIM:614175;Meckel syndrome, type 10, MONDO:0013609 21763481 - two affected fetuses form the same family displayed overlapping phenotypes including cystic kidneys, ductal plate malformation, polydactyly, and occipital encephalocele. Homozygous variant identified in this gene, which was not present in the unaffected son. Homozygous variants were not identified in other known Meckel syndrome genes;26092869 - two further cases with Joubert syndrome reported from two different families False 3 0;0;100 21.70 False ENSG00000123810 ENSG00000123810 HGNC:28636 B9D2 gene B9D2 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000123810 ENSG00000123810 HGNC:28636 B9D2 gene B9D2 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 34, OMIM:614175;Meckel syndrome 10, OMIM:614175;Meckel syndrome, type 10, MONDO:0013609 26092869;21763481;31411728 False 3 0;0;100 21.70 False ENSG00000123810 ENSG00000123810 HGNC:28636 BBS1 gene BBS1 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 13;268000;Bardet Biedl syndrome 1;Bardet Biedl syndrome 11 23143442;12118255 False 3 100;0;0 21.70 False ENSG00000174483 ENSG00000174483 HGNC:966 BBS1 gene BBS1 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 1 OMIM:209900;Bardet-Biedl syndrome 1 MONDO:0008854 23143442;12118255 False 3 100;0;0 21.70 False ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 10 16582908 False 3 100;0;0 21.70 False ENSG00000179941 ENSG00000179941 HGNC:26291 BBS10 gene BBS10 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 10 16582908 False 3 100;0;0 21.70 False ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 12 17160889 False 3 100;0;0 21.70 False ENSG00000181004 ENSG00000181004 HGNC:26648 BBS12 gene BBS12 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 12 17160889 False 3 100;0;0 21.70 False ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 2 11285252 False 3 100;0;0 21.70 False ENSG00000125124 ENSG00000125124 HGNC:967 BBS2 gene BBS2 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 2 11285252 False 3 100;0;0 21.70 False ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 4 11381270;22353939 False 3 100;0;0 21.70 False ENSG00000140463 ENSG00000140463 HGNC:969 BBS4 gene BBS4 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 4 11381270;22353939 False 3 100;0;0 21.70 False ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 5 15137946 False 3 100;0;0 21.70 False ENSG00000163093 ENSG00000163093 HGNC:970 BBS5 gene BBS5 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 5 15137946 False 3 100;0;0 21.70 False ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 7 12567324 False 3 100;0;0 21.70 False ENSG00000138686 ENSG00000138686 HGNC:18758 BBS7 gene BBS7 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 7 12567324 False 3 100;0;0 21.70 False ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 9 16380913 False 3 100;0;0 21.70 False ENSG00000122507 ENSG00000122507 HGNC:30000 BBS9 gene BBS9 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 9 16380913 False 3 100;0;0 21.70 False ENSG00000122507 ENSG00000122507 HGNC:30000 C21orf2 gene C21orf2 Expert Review Green;Expert list;Expert Review Green;Expert list Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000160226 ENSG00000160226 HGNC:1260 C21orf2 gene C21orf2 Expert Review Green;Expert list;Expert Review Green;Expert list Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000160226 ENSG00000160226 HGNC:1260 C2CD3 gene C2CD3 Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal short-rib polydactyly syndromes (SRPS;MIM208500);MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD;?Orofaciodigital syndrome XIV, 615948;Orofaciodigital syndromes (OFDS, MIM 311200) 24997988;26044959;27094867 False 3 0;50;50 21.70 False ENSG00000168014 ENSG00000168014 HGNC:24564 C2CD3 gene C2CD3 Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal short-rib polydactyly syndromes (SRPS;MIM208500);MIM 613091, 263520), Jeune asphyxiating thoracic dystrophy (JATD;?Orofaciodigital syndrome XIV, 615948;Orofaciodigital syndromes (OFDS, MIM 311200) 24997988;26044959;27094867 False 3 0;50;50 21.70 False ENSG00000168014 ENSG00000168014 HGNC:24564 C5orf42 gene C5orf42 Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Oral-facial-digital syndrome type VI;Joubert syndrome 17 22693042;25920555;22425360 False 3 100;0;0 21.70 False ENSG00000197603 ENSG00000197603 HGNC:25801 C5orf42 gene C5orf42 Expert Review Green;Expert list;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Oral-facial-digital syndrome type VI;Joubert syndrome 17 22693042;25920555;22425360 False 3 100;0;0 21.70 False ENSG00000197603 ENSG00000197603 HGNC:25801 C5orf42 gene C5orf42 Expert Review Green;Expert list;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Oral-facial-digital syndrome type VI;Joubert syndrome 17 22693042;25920555;22425360 False 3 100;0;0 21.70 False ENSG00000197603 ENSG00000197603 HGNC:25801 C8orf37 gene C8orf37 Expert Review Green;Other Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000156172 ENSG00000156172 HGNC:27232 CBY1 gene CBY1 NHS GMS;Expert Review Green;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal intellectual disability;cerebellar ataxia;molar tooth sign;polydactyly;Joubert syndrome 33131181;25103236;25220153 False 3 100;0;0 21.70 False ENSG00000100211 ENSG00000100211 HGNC:1307 CC2D2A gene CC2D2A Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 9;COACH syndrome;Joubert syndrome with oculorenal defect;Meckel syndrome 6;Meckel syndrome False 3 100;0;0 21.70 False ENSG00000048342 ENSG00000048342 HGNC:29253 CC2D2A gene CC2D2A Orphanet;Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 9;COACH syndrome;Joubert syndrome with oculorenal defect;Meckel syndrome 6;Meckel syndrome False 3 100;0;0 21.70 False ENSG00000048342 ENSG00000048342 HGNC:29253 CC2D2A gene CC2D2A Orphanet;Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 9;COACH syndrome;Joubert syndrome with oculorenal defect;Meckel syndrome 6;Meckel syndrome False 3 100;0;0 21.70 False ENSG00000048342 ENSG00000048342 HGNC:29253 CENPF gene CENPF Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Stromme syndrome, OMIM:243605;Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome 26820108 False 3 100;0;0 21.70 False ENSG00000117724 ENSG00000117724 HGNC:1857 CENPF gene CENPF Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Stromme syndrome, OMIM:243605;Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome 26820108 False 3 100;0;0 21.70 False ENSG00000117724 ENSG00000117724 HGNC:1857 CENPF gene CENPF Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Stromme syndrome, OMIM:243605;Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome 26820108 False 3 33;0;67 21.70 False ENSG00000117724 ENSG00000117724 HGNC:1857 CEP104 gene CEP104 Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 25, 616781;Joubert syndrome 25 26477546 False 3 100;0;0 21.70 False ENSG00000116198 ENSG00000116198 HGNC:24866 CEP104 gene CEP104 Expert Review Green;Radboud University Medical Center, Nijmegen;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 25, 616781;Joubert syndrome 25 26477546 False 3 100;0;0 21.70 False ENSG00000116198 ENSG00000116198 HGNC:24866 CEP104 gene CEP104 Expert Review Green;Radboud University Medical Center, Nijmegen;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 25, 616781;Joubert syndrome 25 26477546 False 3 100;0;0 21.70 False ENSG00000116198 ENSG00000116198 HGNC:24866 CEP120 gene CEP120 Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 13 with or without polydactyly;Jeune syndrome;Thoracic and Cranioectodermal Dysplasia (Skeletal Ciliopathy) 15 Gene Panel;Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 29847808 False 3 100;0;0 21.70 False ENSG00000168944 ENSG00000168944 HGNC:26690 CEP164 gene CEP164 Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal ciliopathies;Nephronophthisis 15;Senior-Loken syndrome;Nephronophthisis 15, 614845 False 3 0;0;0 21.70 False ENSG00000110274 ENSG00000110274 HGNC:29182 CEP164 gene CEP164 Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal ciliopathies;Nephronophthisis 15;Senior-Loken syndrome;Nephronophthisis 15, 614845 False 3 0;0;0 21.70 False ENSG00000110274 ENSG00000110274 HGNC:29182 CEP290 gene CEP290 Orphanet;Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP290 gene CEP290 Orphanet;Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP290 gene CEP290 Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP41 gene CEP41 Expert Review Green;Expert list;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 15 22246503 False 3 100;0;0 21.70 False ENSG00000106477 ENSG00000106477 HGNC:12370 CEP41 gene CEP41 Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 15 22246503 False 3 100;0;0 21.70 False ENSG00000106477 ENSG00000106477 HGNC:12370 CEP41 gene CEP41 Expert Review Green;Expert list;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 15 22246503 False 3 100;0;0 21.70 False ENSG00000106477 ENSG00000106477 HGNC:12370 CEP83 gene CEP83 Orphanet;Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 18 615862 24882706 False 3 100;0;0 21.70 False ENSG00000173588 ENSG00000173588 HGNC:17966 CRB2 gene CRB2 Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Ventriculomegaly with cystic kidney disease 219730 25557780 False 3 100;0;0 21.70 False ENSG00000148204 ENSG00000148204 HGNC:18688 CRB2 gene CRB2 Expert Review;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Ventriculomegaly with cystic kidney disease 219730 25557780 False 3 100;0;0 21.70 False ENSG00000148204 ENSG00000148204 HGNC:18688 CSPP1 gene CSPP1 Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Meckel syndrome;Joubert syndrome 21;Meckel-Gruber syndrome 24360807;24360803;24360808 False 3 100;0;0 21.70 False ENSG00000104218 ENSG00000104218 HGNC:26193 CSPP1 gene CSPP1 NHS GMS;Expert Review Green;Expert list Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 21, OMIM:615636;Joubert syndrome with Jeune asphyxiating thoracic dystrophy, MONDO:0018342 24360808;24360803 False 3 100;0;0 21.70 False ENSG00000104218 ENSG00000104218 HGNC:26193 CSPP1 gene CSPP1 Orphanet;Expert Review Green;Expert list;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Meckel syndrome;Joubert syndrome 21;Meckel-Gruber syndrome 24360807;24360803;24360808 False 3 100;0;0 21.70 False ENSG00000104218 ENSG00000104218 HGNC:26193 CSPP1 gene CSPP1 Orphanet;Expert Review Green;Expert list;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Meckel syndrome;Joubert syndrome 21;Meckel-Gruber syndrome 24360807;24360803;24360808 False 3 100;0;0 21.70 False ENSG00000104218 ENSG00000104218 HGNC:26193 DDX59 gene DDX59 Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen;UKGTN;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome V, 174300 29127725;23972372;28711741 False 3 50;0;50 21.70 False ENSG00000118197 ENSG00000118197 HGNC:25360 DDX59 gene DDX59 Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen;UKGTN;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome V, 174300 29127725;23972372;28711741 False 3 50;0;50 21.70 False ENSG00000118197 ENSG00000118197 HGNC:25360 DDX59 gene DDX59 Expert Review Green;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome V, 174300 29127725;23972372;28711741 False 3 50;0;50 21.70 False ENSG00000118197 ENSG00000118197 HGNC:25360 DHCR7 gene DHCR7 Expert Review Green;UKGTN Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome, OMIM:270400 9634533 False 3 33;0;67 21.70 False ENSG00000172893 ENSG00000172893 HGNC:2860 DHCR7 gene DHCR7 Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome 270400 9634533 False 3 100;0;0 21.70 False ENSG00000172893 ENSG00000172893 HGNC:2860 DHCR7 gene DHCR7 Expert Review Green;UKGTN Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome 270400 9634533 False 3 100;0;0 21.70 False ENSG00000172893 ENSG00000172893 HGNC:2860 DLG5 gene DLG5 NHS GMS;Expert Review Green;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Yuksel-Vogel-Bauser syndrome, OMIM:620703 32631816;30791088;17765678;35361250 False 3 80;20;0 21.70 False ENSG00000151208 ENSG00000151208 HGNC:2904 DYNC2H1 gene DYNC2H1 Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 False 3 0;0;0 21.70 False ENSG00000187240 ENSG00000187240 HGNC:2962 DYNC2H1 gene DYNC2H1 Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 False 3 0;0;0 21.70 False ENSG00000187240 ENSG00000187240 HGNC:2962 DYNC2LI1 gene DYNC2LI1 Expert Review Green;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Short-rib throacic dysplasia 15 with polydactyly, 617088 26077881 False 3 100;0;0 21.70 False ENSG00000138036 ENSG00000138036 HGNC:24595 EVC gene EVC Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome, OMIM:225500 False 3 0;0;0 21.70 False ENSG00000072840 ENSG00000072840 HGNC:3497 EVC gene EVC Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome, OMIM:225500 False 3 0;0;0 21.70 False ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 NHS GMS;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ellis-van Creveld syndrome, OMIM:225500;Weyers acrofacial dysostosis, OMIM:193530 38531627;23220543;19810119;16404586 False 3 100;0;0 21.70 False ENSG00000173040 ENSG00000173040 HGNC:19747 EVC2 gene EVC2 NHS GMS;Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty BOTH monoallelic and biallelic, autosomal or pseudoautosomal Ellis-van Creveld syndrome, OMIM:225500;Weyers acrofacial dysostosis, OMIM:193530 38531627;23220543;19810119;16404586 False 3 100;0;0 21.70 False ENSG00000173040 ENSG00000173040 HGNC:19747 EXOC3L2 gene EXOC3L2 Expert Review Green;NHS GMS;Expert list Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Brain malformation renal syndrome, OMIM:620943 28749478;27894351;30327448;34974531 False 3 50;25;25 21.70 False ENSG00000130201 ENSG00000283632 HGNC:30162 FAM149B1 gene FAM149B1 NHS GMS;Expert Review Green;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 36, OMIM:618763 30905400;34828254 False 3 67;33;0 21.70 False ENSG00000138286 ENSG00000138286 HGNC:29162 FAM149B1 gene FAM149B1 NHS GMS;Expert Review Green;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 36, OMIM:618763 30905400;34828254 False 3 67;33;0 21.70 False ENSG00000138286 ENSG00000138286 HGNC:29162 FAM149B1 gene FAM149B1 Expert Review Green;NHS GMS;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 36, OMIM:618763 30905400;34828254 False 3 50;50;0 21.70 False ENSG00000138286 ENSG00000138286 HGNC:29162 GLI3 gene GLI3 Expert Review Green;Expert list;UKGTN Rare multisystem ciliopathy Super panel Multispecialty MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Greig cephalopolysyndactyly syndrome, OMIM:175700;Pallister-Hall syndrome, OMIM:146510 False 3 0;0;0 21.70 False ENSG00000106571 ENSG00000106571 HGNC:4319 GLI3 gene GLI3 Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Greig cephalopolysyndactyly syndrome, OMIM:175700;Pallister-Hall syndrome, OMIM:146510 False 3 0;0;0 21.70 False ENSG00000106571 ENSG00000106571 HGNC:4319 GLI3 gene GLI3 Expert Review Green;Expert list;UKGTN Rare multisystem ciliopathy Super panel Multispecialty MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Greig cephalopolysyndactyly syndrome, OMIM:175700;Pallister-Hall syndrome, OMIM:146510 False 3 0;0;0 21.70 False ENSG00000106571 ENSG00000106571 HGNC:4319 GLIS2 gene GLIS2 Expert Review Green;NHS GMS;Illumina TruGenome Clinical Sequencing Services;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 7, OMIM:611498 17618285;18227149;23559409;26374130;31676329 False 3 33;0;67 21.70 False ENSG00000126603 ENSG00000126603 HGNC:29450 HNF1B gene HNF1B Expert Review Green;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 3 0;0;100 21.70 False ENSG00000108753 ENSG00000275410 HGNC:11630 HYLS1 gene HYLS1 Expert Review Green;Radboud University Medical Center, Nijmegen;Expert list;Emory Genetics Laboratory;UKGTN Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Hydrolethalus syndrome, 236680 26830932 - report in two siblings with Joubert syndrome;19656802 - impairment in ciligenesis;18648327 - Hydrolethalus syndrome;15843405 - Hydrolethalus syndrome False 3 0;0;0 21.70 False ENSG00000198331 ENSG00000198331 HGNC:26558 HYLS1 gene HYLS1 Expert Review Green;Radboud University Medical Center, Nijmegen;Expert list;Emory Genetics Laboratory;UKGTN Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Hydrolethalus syndrome, 236680 18648327;26830932;19656802;15843405 False 3 0;0;0 21.70 False ENSG00000198331 ENSG00000198331 HGNC:26558 HYLS1 gene HYLS1 Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Hydrolethalus syndrome, 236680 26830932 - report in two siblings with Joubert syndrome;19656802 - impairment in ciligenesis;18648327 - Hydrolethalus syndrome;15843405 - Hydrolethalus syndrome False 3 0;0;0 21.70 False ENSG00000198331 ENSG00000198331 HGNC:26558 ICK gene ICK Expert Review Green;Literature;Expert Review Green;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Endocrine-cerebroosteodysplasia, OMIM:612651;Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 19185282;27069622;27466187 False 3 0;0;0 21.70 False ENSG00000112144 ENSG00000112144 HGNC:21219 ICK gene ICK Expert Review Green;Literature;Expert Review Green;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Endocrine-cerebroosteodysplasia, OMIM:612651;Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 19185282;27069622;27466187 False 3 0;100;0 21.70 False ENSG00000112144 ENSG00000112144 HGNC:21219 ICK gene ICK Expert Review Green;Expert Review Green;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Endocrine-cerebroosteodysplasia, OMIM:612651;Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 19185282;27069622;27466187 False 3 0;0;0 21.70 False ENSG00000112144 ENSG00000112144 HGNC:21219 IFT122 gene IFT122 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia;Cranioectodermal dysplasia 1, 218330 19000668;24027799;23826986;26792575;24689072;20493458 False 3 0;0;0 21.70 False ENSG00000163913 ENSG00000163913 HGNC:13556 IFT122 gene IFT122 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia;Cranioectodermal dysplasia 1, 218330 19000668;24027799;23826986;26792575;24689072;20493458 False 3 0;0;0 21.70 False ENSG00000163913 ENSG00000163913 HGNC:13556 IFT140 gene IFT140 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Saldino-Mainzer syndrome;Jeune syndrome;Short-rib thoracic dysplasia 9 with or without polydactyly, 266920;Mainzer-Saldino Syndrome;Short-rib thoracic dysplasia 9 with or without polydactyly 22503633 False 3 100;0;0 21.70 False ENSG00000187535 ENSG00000187535 HGNC:29077 IFT140 gene IFT140 Expert Review Green;Expert Review Rare multisystem ciliopathy Super panel Multispecialty BOTH monoallelic and biallelic, autosomal or pseudoautosomal Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920;short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964;cystic kidney disease, MONDO:0002473;{Polycystic kidney disease 9, susceptibility to}, OMIM:621164 22503633;23418020;29706353;34890546 False 3 100;0;0 21.70 False ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000138002 ENSG00000138002 HGNC:30391 IFT172 gene IFT172 Expert Review Green;Expert list Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 10 with or without polydactyly, OMIM:615630 25168386;30761183;24488770;24140113 False 3 100;0;0 21.70 False ENSG00000138002 ENSG00000138002 HGNC:30391 IFT172 gene IFT172 Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000138002 ENSG00000138002 HGNC:30391 IFT27 gene IFT27 Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 19, OMIM:615996 24488770;29704304;30761183;29588463 False 3 100;0;0 21.70 False ENSG00000100360 ENSG00000100360 HGNC:18626 IFT27 gene IFT27 Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 19, OMIM:615996 24488770;29704304;30761183 False 3 100;0;0 21.70 False ENSG00000100360 ENSG00000100360 HGNC:18626 IFT43 gene IFT43 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 3, 614099;Sensenbrenner syndrome;Short-rib thoracic dysplasia 18 with polydactyly, 617866 29896747;28400947;26892345;24027799;21378380;22791528 False 3 67;0;33 21.70 False ENSG00000119650 ENSG00000119650 HGNC:29669 IFT43 gene IFT43 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 3, 614099;Sensenbrenner syndrome;Short-rib thoracic dysplasia 18 with polydactyly, 617866 29896747;28400947;26892345;24027799;21378380;22791528 False 3 67;0;33 21.70 False ENSG00000119650 ENSG00000119650 HGNC:29669 IFT52 gene IFT52 Expert Review Green;Other;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 16 with or without polydactyly, OMIM:617102;Short-rib thoracic dysplasia 16 with or without polydactyly, MONDO:0014915 27466190;26880018;30242358 False 3 50;0;50 21.70 False ENSG00000101052 ENSG00000101052 HGNC:15901 IFT74 gene IFT74 Expert Review Green;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 20, 617119 27486776;32144365 False 3 0;0;100 21.70 False ENSG00000096872 ENSG00000096872 HGNC:21424 IFT74 gene IFT74 NHS GMS;Expert Review Green;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 40, OMIM:619582;Joubert syndrome 40, MONDO:0030462 33531668 False 3 100;0;0 21.70 False ENSG00000096872 ENSG00000096872 HGNC:21424 IFT80 gene IFT80 Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 2 with or without polydactyly;Jeune syndrome;Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 False 3 0;0;0 21.70 False ENSG00000068885 ENSG00000068885 HGNC:29262 IFT81 gene IFT81 Expert Review Green;Expert list Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 19 with or without polydactyly, 617895 27666822;26275418;30080953 False 3 100;0;0 21.70 False ENSG00000122970 ENSG00000122970 HGNC:14313 INPP5E gene INPP5E Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Joubert syndrome 1 23386033;26748598 False 3 100;0;0 21.70 False ENSG00000148384 ENSG00000148384 HGNC:21474 INPP5E gene INPP5E Expert Review Green;Expert list;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Joubert syndrome 1 23386033;26748598 False 3 100;0;0 21.70 False ENSG00000148384 ENSG00000148384 HGNC:21474 INPP5E gene INPP5E Expert Review Green;Expert list;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Joubert syndrome 1 23386033;26748598 False 3 100;0;0 21.70 False ENSG00000148384 ENSG00000148384 HGNC:21474 INTU gene INTU NHS GMS;Expert Review Green;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal ?Short-rib thoracic dysplasia 20 with polydactyly, OMIM:617925;?Orofaciodigital syndrome XVII, OMIM:617926 20067783;27158779;29451301 False 3 100;0;0 21.70 False ENSG00000164066 ENSG00000164066 HGNC:29239 INVS gene INVS Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome;Nephronophthisis 2, infantile, 602088;Nephronophthisis 12872123 False 3 0;0;0 21.70 False ENSG00000119509 ENSG00000119509 HGNC:17870 IQCB1 gene IQCB1 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 5, 609254;Senior-Loken syndrome False 3 0;0;0 21.70 False ENSG00000173226 ENSG00000173226 HGNC:28949 IQCB1 gene IQCB1 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 5, 609254;Senior-Loken syndrome False 3 0;0;0 21.70 False ENSG00000173226 ENSG00000173226 HGNC:28949 IQCE gene IQCE Expert Review Green;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Polydactyly, postaxial, type A7 OMIM:617642;polydactyly, postaxial, type a7 MONDO:0060550 28488682;31549751 False 3 100;0;0 21.70 False ENSG00000106012 ENSG00000106012 HGNC:29171 KIAA0556 gene KIAA0556 NHS GMS;Expert Review Green;Other Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000047578 ENSG00000047578 HGNC:29068 KIAA0556 gene KIAA0556 Expert Review Green;NHS GMS Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000047578 ENSG00000047578 HGNC:29068 KIAA0586 gene KIAA0586 Expert Review Green;Expert list;Other Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA0586 gene KIAA0586 Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA0586 gene KIAA0586 Expert Review Green;Expert list;Other Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA0586 gene KIAA0586 NHS GMS;Expert Review Green;Expert list Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 14 with polydactyly, OMIM:616546;short-rib thoracic dysplasia 14 with polydactyly, MONDO:0014688 26166481;32080096;36538006 False 3 67;33;0 21.70 False ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA0753 gene KIAA0753 Expert Review Green;Literature;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal ?Orofaciodigital syndrome XV 617127;Joubert syndrome;Short-rib skeletal dysplasia 29138412;28220259;26643951 False 3 50;0;50 21.70 False ENSG00000198920 ENSG00000198920 HGNC:29110 KIAA0753 gene KIAA0753 Expert Review Green;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XV 617127 26643951 False 3 50;0;50 21.70 False ENSG00000198920 ENSG00000198920 HGNC:29110 KIAA0753 gene KIAA0753 Expert Review Green;Literature;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal ?Orofaciodigital syndrome XV 617127;Joubert syndrome;Short-rib skeletal dysplasia 29138412;28220259;26643951 False 3 50;0;50 21.70 False ENSG00000198920 ENSG00000198920 HGNC:29110 KIF7 gene KIF7 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 12 200990;Acrocallosal syndrome 200990 21633164 False 3 100;0;0 21.70 False ENSG00000166813 ENSG00000166813 HGNC:30497 KIF7 gene KIF7 Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 12 200990;Acrocallosal syndrome 200990 21633164 False 3 100;0;0 21.70 False ENSG00000166813 ENSG00000166813 HGNC:30497 KIF7 gene KIF7 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 12 200990;Acrocallosal syndrome 200990 21633164 False 3 100;0;0 21.70 False ENSG00000166813 ENSG00000166813 HGNC:30497 LAMA1 gene LAMA1 NHS GMS;Expert Review Green;Expert Review Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000101680 ENSG00000101680 HGNC:6481 LAMA1 gene LAMA1 NHS GMS;Expert Review Green;Expert Review Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000101680 ENSG00000101680 HGNC:6481 LBR gene LBR Expert Review Green;Expert list;UKGTN Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Skeletal Ciliopathies;Greenberg skeletal dysplasia, 215140 21327084;12618959;29068549 False 3 100;0;0 21.70 False ENSG00000143815 ENSG00000143815 HGNC:6518 LZTFL1 gene LZTFL1 Expert Review Green;Radboud University Medical Center, Nijmegen;Expert list;Emory Genetics Laboratory;UKGTN;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 17, 615994 22510444;27312011;23692385 False 3 0;0;100 21.70 False ENSG00000163818 ENSG00000163818 HGNC:6741 LZTFL1 gene LZTFL1 Expert Review Green;Radboud University Medical Center, Nijmegen;Expert list;Emory Genetics Laboratory;UKGTN;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 17, 615994 22510444;27312011;23692385 False 3 0;0;100 21.70 False ENSG00000163818 ENSG00000163818 HGNC:6741 MAPKBP1 gene MAPKBP1 Expert Review Green;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 20 617271 28089251 False 3 100;0;0 21.70 False ENSG00000137802 ENSG00000137802 HGNC:29536 MKKS gene MKKS Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 6;236700 10802661;10973251;10973238 False 3 100;0;0 21.70 False ENSG00000125863 ENSG00000125863 HGNC:7108 MKKS gene MKKS Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 6;236700 10802661;10973251;10973238 False 3 100;0;0 21.70 False ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False Other - please provide details in the comments ENSG00000011143 ENSG00000011143 HGNC:7121 MKS1 gene MKS1 Orphanet;Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False Other - please provide details in the comments ENSG00000011143 ENSG00000011143 HGNC:7121 MKS1 gene MKS1 Orphanet;Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000011143 ENSG00000011143 HGNC:7121 NEK1 gene NEK1 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 6 with or without polydactyly;Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 False 3 0;0;0 21.70 False ENSG00000137601 ENSG00000137601 HGNC:7744 NEK8 gene NEK8 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Renal-hepatic-pancreatic dysplasia;?Renal-hepatic-pancreatic dysplasia 2, 615415;Nephronophthisis;?Nephronophthisis 9, 613824 18199800;26967905;26862157;26697755;23418306 False 3 67;0;33 21.70 False ENSG00000160602 ENSG00000160602 HGNC:13387 NPHP1 gene NPHP1 Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP1 gene NPHP1 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 4;Senior-Loken syndrome;256100 Senior-Loken syndrome-1, 266900;609583 Nephronophthisis 1, juvenile;Nephronophthisis 15138899;22982934;15689444;34415307 False 3 100;0;0 21.70 False ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP1 gene NPHP1 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP3 gene NPHP3 Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP3 gene NPHP3 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome;Nephronophthisis;Senior-Loken syndrome 4, 606996;Nephronophthisis 4, 606966 False 3 0;0;0 21.70 False ENSG00000131697 ENSG00000131697 HGNC:19104 NPHP4 gene NPHP4 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome;Nephronophthisis;Senior-Loken syndrome 4, 606996;Nephronophthisis 4, 606966 False 3 0;0;0 21.70 False ENSG00000131697 ENSG00000131697 HGNC:19104 OFD1 gene OFD1 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other 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) Joubert syndrome 10;X-linked Joubert syndrome;Orofaciodigital syndrome I 19800048;22353940 False 3 100;0;0 21.70 False ENSG00000046651 ENSG00000046651 HGNC:2567 OFD1 gene OFD1 Expert Review Green 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) Joubert syndrome 10;X-linked Joubert syndrome;Orofaciodigital syndrome I 19800048;22353940 False 3 100;0;0 21.70 False ENSG00000046651 ENSG00000046651 HGNC:2567 OFD1 gene OFD1 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other 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) Joubert syndrome 10;X-linked Joubert syndrome;Orofaciodigital syndrome I 19800048;22353940 False 3 100;0;0 21.70 False ENSG00000046651 ENSG00000046651 HGNC:2567 PIBF1 gene PIBF1 Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 33, OMIM:617767;ataxia;vermis hypoplasia;developmental delay;thick superior cerebellar peduncles;superior cerebellar dysplasia 26167768;29695797;30858804 False 3 100;0;0 21.70 False ENSG00000083535 ENSG00000083535 HGNC:23352 PIK3C2A gene PIK3C2A Expert Review Green;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Oculoskeletodental syndrome 618440 31034465 False 3 0;0;0 21.70 False ENSG00000011405 ENSG00000011405 HGNC:8971 PKD1 gene PKD1 Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy Super panel Multispecialty BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Polycystic kidney disease, adult type I, 173900;Autosomal recessive polycystic kidney disease (ARPKD);Autosomal dominant polycystic kidney disease (ADPKD) 23624871;20558538 False 3 100;0;0 21.70 False ENSG00000008710 ENSG00000008710 HGNC:9008 PKD2 gene PKD2 Expert Review Green;Radboud University Medical Center, Nijmegen;Expert list;Emory Genetics Laboratory;UKGTN Rare multisystem ciliopathy Super panel Multispecialty MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic kidney disease 2, 613095 False 3 0;0;0 21.70 False ENSG00000118762 ENSG00000118762 HGNC:9009 PKHD1 gene PKHD1 Expert Review Green;Radboud University Medical Center, Nijmegen;Expert list;Emory Genetics Laboratory;UKGTN Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200 False 3 0;0;0 21.70 False ENSG00000170927 ENSG00000170927 HGNC:9016 PMM2 gene PMM2 Expert Review Green;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia 212065 9140401 False 3 100;0;0 21.70 False ENSG00000140650 ENSG00000140650 HGNC:9115 PMM2 gene PMM2 Expert Review Green;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia 212065 9140401 False 3 100;0;0 21.70 False ENSG00000140650 ENSG00000140650 HGNC:9115 PMM2 gene PMM2 Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia 212065 9140401 False 3 100;0;0 21.70 False ENSG00000140650 ENSG00000140650 HGNC:9115 POC5 gene POC5 NHS GMS;Expert Review Green;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy;diabetes mellitus;lipodystrophy;renal failure;abnormal muscle physiology 29272404;40590205 False 3 100;0;0 21.70 False ENSG00000152359 ENSG00000152359 HGNC:26658 PRKACA gene PRKACA NHS GMS;Expert Review Green;Literature Rare multisystem ciliopathy Super panel Multispecialty MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cardioacrofacial dysplasia 1, OMIM:619142 33058759;31130284 False 3 100;0;0 21.70 False ENSG00000072062 ENSG00000072062 HGNC:9380 PRKACB gene PRKACB NHS GMS;Expert Review Green;Literature Rare multisystem ciliopathy Super panel Multispecialty MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cardioacrofacial dysplasia 2, OMIM:619143 33058759 False 3 50;50;0 21.70 False 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;NHS GMS;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Cholestasis, progressive familial intrahepatic, 13, OMIM:620962 39132680 False 3 100;0;0 21.70 False ENSG00000159792 ENSG00000159792 HGNC:9529 RPGRIP1L gene RPGRIP1L Orphanet;Expert Review Green;Expert list;Other Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000103494 ENSG00000103494 HGNC:29168 RPGRIP1L gene RPGRIP1L Orphanet;Expert Review Green;Expert list;Other Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000103494 ENSG00000103494 HGNC:29168 RPGRIP1L gene RPGRIP1L Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000103494 ENSG00000103494 HGNC:29168 SBDS gene SBDS Expert Review Green;Expert list;UKGTN Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Skeletal Ciliopathies 22554078 False 3 0;0;0 21.70 False ENSG00000126524 ENSG00000126524 HGNC:19440 SCLT1 gene SCLT1 Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000151466 ENSG00000151466 HGNC:26406 SCLT1 gene SCLT1 Expert Review Green;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000151466 ENSG00000151466 HGNC:26406 SDCCAG8 gene SDCCAG8 Orphanet;Expert Review Green;Expert list Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal SENIOR-LOKEN SYNDROME;Bardet-Biedl Syndrome;613615;Senior-Loken syndrome 22190896 False 3 100;0;0 21.70 False ENSG00000054282 ENSG00000054282 HGNC:10671 SDCCAG8 gene SDCCAG8 Orphanet;Expert Review Green;Expert list Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal SENIOR-LOKEN SYNDROME;Bardet-Biedl Syndrome;613615;Senior-Loken syndrome 22190896 False 3 100;0;0 21.70 False ENSG00000054282 ENSG00000054282 HGNC:10671 SUFU gene SUFU NHS GMS;Expert Review Green;Expert list Rare multisystem ciliopathy Super panel Multispecialty BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 32, OMIM:617757 21289193;28965847;33024317;34675124 False 3 75;25;0 21.70 False ENSG00000107882 ENSG00000107882 HGNC:16466 SUFU gene SUFU NHS GMS;Expert Review Green;Expert list;Expert list Rare multisystem ciliopathy Super panel Multispecialty BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 32, OMIM:617757 21289193;28965847;33024317;34675124 False 3 75;25;0 21.70 False ENSG00000107882 ENSG00000107882 HGNC:16466 TBC1D32 gene TBC1D32 NHS GMS;Expert Review Green;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 3 100;0;0 21.70 False ENSG00000146350 ENSG00000146350 HGNC:21485 TCTEX1D2 gene TCTEX1D2 Expert Review Green;Expert list;Expert Review Green;Expert list Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405;Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565;Jeune asphyxiating thoracic dystrophy;JATD 28475963;25830415;26044572 False 3 100;0;0 21.70 False ENSG00000213123 ENSG00000213123 HGNC:28482 TCTN1 gene TCTN1 Expert Review Green;Expert list Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20301500;22693042;26489806;21725307;26477546;28631893 False 3 100;0;0 21.70 False ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN1 gene TCTN1 Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20301500;22693042;26489806;21725307;26477546;28631893 False 3 100;0;0 21.70 False ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN1 gene TCTN1 Expert Review Green;Expert list Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20301500;22693042;26489806;21725307;26477546;28631893 False 3 100;0;0 21.70 False ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN2 gene TCTN2 Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Meckel syndrome;Joubert syndrome 24;Joubert syndrome, Meckel-Gruber syndrome 25118024;21565611 False 3 100;0;0 21.70 False ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN2 gene TCTN2 Orphanet;Expert Review Green;Expert list;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Meckel syndrome;Joubert syndrome 24;Joubert syndrome, Meckel-Gruber syndrome 25118024;21565611 False 3 100;0;0 21.70 False ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN2 gene TCTN2 Orphanet;Expert Review Green;Expert list;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Meckel syndrome;Joubert syndrome 24;Joubert syndrome, Meckel-Gruber syndrome 25118024;21565611 False 3 100;0;0 21.70 False ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Orofaciodigital syndrome IV;Joubert syndrome 18;Meckel-Gruber;Mohr-Majewski syndrome 25118024;22883145 False 3 100;0;0 21.70 False ENSG00000119977 ENSG00000119977 HGNC:24519 TCTN3 gene TCTN3 Expert Review Green;Expert list;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Orofaciodigital syndrome IV;Joubert syndrome 18;Meckel-Gruber;Mohr-Majewski syndrome 25118024;22883145 False 3 100;0;0 21.70 False ENSG00000119977 ENSG00000119977 HGNC:24519 TCTN3 gene TCTN3 Expert Review Green;Expert list;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Orofaciodigital syndrome IV;Joubert syndrome 18;Meckel-Gruber;Mohr-Majewski syndrome 25118024;22883145 False 3 100;0;0 21.70 False ENSG00000119977 ENSG00000119977 HGNC:24519 TMEM107 gene TMEM107 Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000179029 ENSG00000179029 HGNC:28128 TMEM107 gene TMEM107 Expert Review Green;Expert list Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000179029 ENSG00000179029 HGNC:28128 TMEM107 gene TMEM107 Expert Review Green;Expert list Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000179029 ENSG00000179029 HGNC:28128 TMEM138 gene TMEM138 Orphanet;Expert Review Green;Expert list;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome with oculorenal defect;Joubert syndrome 16 22282472 False 3 100;0;0 21.70 False ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM138 gene TMEM138 Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome with oculorenal defect;Joubert syndrome 16 22282472 False 3 100;0;0 21.70 False ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM138 gene TMEM138 Orphanet;Expert Review Green;Expert list;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome with oculorenal defect;Joubert syndrome 16 22282472 False 3 100;0;0 21.70 False ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM216 gene TMEM216 Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM216 gene TMEM216 Orphanet;Expert Review Green;Expert list;Other Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM216 gene TMEM216 Orphanet;Expert Review Green;Expert list;Other Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM218 gene TMEM218 Expert Review Green;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 39, OMIM:619562 25161209;33791682;35137054 False 3 100;0;0 21.70 False ENSG00000150433 ENSG00000150433 HGNC:27344 TMEM218 gene TMEM218 Expert Review Green;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 39, OMIM:619562 25161209;33791682;35137054 False 3 100;0;0 21.70 False ENSG00000150433 ENSG00000150433 HGNC:27344 TMEM231 gene TMEM231 Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM231 gene TMEM231 Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;Expert list;Other;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM231 gene TMEM231 Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;Expert list;Other;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Orphanet;Expert Review Green;Expert list;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Joubert syndrome with oculorenal defect;Joubert syndrome 14 22152675;20301500 False 3 100;0;0 21.70 False ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM237 gene TMEM237 Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Joubert syndrome with oculorenal defect;Joubert syndrome 14 22152675;20301500 False 3 100;0;0 21.70 False ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM237 gene TMEM237 Orphanet;Expert Review Green;Expert list;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Joubert syndrome with oculorenal defect;Joubert syndrome 14 22152675;20301500 False 3 100;0;0 21.70 False ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM67 gene TMEM67 Orphanet;Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000164953 ENSG00000164953 HGNC:28396 TMEM67 gene TMEM67 Orphanet;Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;nephronophthisis;COACH syndrome;Joubert syndrome 6;?Bardet-Biedl syndrome?;Senior-Boichis syndrome;613550;607361;Meckel-Gruber syndrome;Meckel syndrome;610688;Nephronophthisis 11;216360 PMID: 16415887;PMID: 17160906;PMID: 19058225;PMID: 19508969;PMID: 20607301;PMID: 18327255 False 3 67;0;33 21.70 False ENSG00000164953 ENSG00000164953 HGNC:28396 TMEM67 gene TMEM67 Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;nephronophthisis;COACH syndrome;Joubert syndrome 6;?Bardet-Biedl syndrome?;Senior-Boichis syndrome;613550;607361;Meckel-Gruber syndrome;Meckel syndrome;610688;Nephronophthisis 11;216360 PMID: 16415887;PMID: 17160906;PMID: 19058225;PMID: 19508969;PMID: 20607301;PMID: 18327255 False 3 67;0;33 21.70 False ENSG00000164953 ENSG00000164953 HGNC:28396 TOGARAM1 gene TOGARAM1 NHS GMS;Expert Review Green;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 37, OMIM:619185;Joubert syndrome 37, MONDO:0030933 32747439;32453716 False 3 100;0;0 21.70 False ENSG00000198718 ENSG00000198718 HGNC:19959 TRAF3IP1 gene TRAF3IP1 Expert Review Green;Orphanet Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 9 616629 26487268 False 3 100;0;0 21.70 False ENSG00000204104 ENSG00000204104 HGNC:17861 TRAF3IP1 gene TRAF3IP1 Expert Review Green;Orphanet Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 9 616629 26487268 False 3 100;0;0 21.70 False ENSG00000204104 ENSG00000204104 HGNC:17861 TTC21B gene TTC21B Expert Review Green;Orphanet;UKGTN;Expert list;Other;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 12, 613820;Short-rib thoracic dysplasia 4 with or without polydactyly;Jeune syndrome;Short-rib thoracic dysplasia 4 with or without polydactyly, 613819;Nephronophthisis 21258341;27515926 (functional study in C. elegans);21068128;24876116 (Focal segmental glomerulosclerosis) False 3 100;0;0 21.70 False ENSG00000123607 ENSG00000123607 HGNC:25660 TTC21B gene TTC21B Expert Review Green;Orphanet;UKGTN;Expert list;Other;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 12, 613820;Short-rib thoracic dysplasia 4 with or without polydactyly;Jeune syndrome;Short-rib thoracic dysplasia 4 with or without polydactyly, 613819;Nephronophthisis 21258341;27515926 (functional study in C. elegans);21068128;24876116 (Focal segmental glomerulosclerosis) False 3 100;0;0 21.70 False ENSG00000123607 ENSG00000123607 HGNC:25660 TTC8 gene TTC8 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 8 14520415 False 3 100;0;0 21.70 False ENSG00000165533 ENSG00000165533 HGNC:20087 TTC8 gene TTC8 Eligibility statement prior genetic testing;Expert list;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 8 14520415 False 3 100;0;0 21.70 False ENSG00000165533 ENSG00000165533 HGNC:20087 TXNDC15 gene TXNDC15 Expert Review Green;Expert list;Expert Review Green;Expert list Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 14, OMIM:619879 27894351 False 3 0;100;0 21.70 False ENSG00000113621 ENSG00000113621 HGNC:20652 TXNDC15 gene TXNDC15 Expert Review Green;Expert Review Green;Expert list Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 14, OMIM:619879 27894351 False 3 0;100;0 21.70 False ENSG00000113621 ENSG00000113621 HGNC:20652 VPS13B gene VPS13B Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Cohen syndrome, 216550;COHEN SYNDROME False 3 100;0;0 21.70 False ENSG00000132549 ENSG00000132549 HGNC:2183 VPS13B gene VPS13B Expert Review;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Cohen syndrome, 216550;COHEN SYNDROME False 3 100;0;0 21.70 False ENSG00000132549 ENSG00000132549 HGNC:2183 WDPCP gene WDPCP Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000143951 ENSG00000143951 HGNC:28027 WDPCP gene WDPCP Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000143951 ENSG00000143951 HGNC:28027 WDR19 gene WDR19 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000157796 ENSG00000157796 HGNC:18340 WDR19 gene WDR19 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000157796 ENSG00000157796 HGNC:18340 WDR19 gene WDR19 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000157796 ENSG00000157796 HGNC:18340 WDR34 gene WDR34 Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 11 with or without polydactyly;Jeune syndrome;Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 24183449 False 3 100;0;0 21.70 False ENSG00000119333 ENSG00000119333 HGNC:28296 WDR35 gene WDR35 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 2, 613610;Cranioectodermal dysplasia;Short-rib thoracic dysplasia 7 with or without polydactyly;Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 False 3 0;0;0 21.70 False ENSG00000118965 ENSG00000118965 HGNC:29250 WDR35 gene WDR35 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 2, 613610;Cranioectodermal dysplasia;Short-rib thoracic dysplasia 7 with or without polydactyly;Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 False 3 0;0;0 21.70 False ENSG00000118965 ENSG00000118965 HGNC:29250 WDR60 gene WDR60 Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 8 with or without polydactyly, 615503;Short-rib thoracic dysplasia 8 with or without polydactyly;Jeune syndrome;SHORT-RIB POLYDACTYLY 25492405;23910462;29271569;26874042 False 3 50;0;50 21.70 False ENSG00000126870 ENSG00000126870 HGNC:21862 WDR60 gene WDR60 Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 8 with or without polydactyly, 615503;Short-rib thoracic dysplasia 8 with or without polydactyly;Jeune syndrome;SHORT-RIB POLYDACTYLY 25492405;23910462;29271569;26874042 False 3 50;0;50 21.70 False ENSG00000126870 ENSG00000126870 HGNC:21862 XPNPEP3 gene XPNPEP3 NHS GMS;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Orphanet;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1 OMIM:613159;nephronophthisis-like nephropathy 1 MONDO:0013163 20179356;32660933 False 3 67;0;33 21.70 False ENSG00000196236 ENSG00000196236 HGNC:28052 ZSWIM6 gene ZSWIM6 Expert Review Green;Literature Rare multisystem ciliopathy Super panel Multispecialty MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acromelic frontonasal dysostosis 603671 25105228 False 3 100;0;0 21.70 False Other - please provide details in the comments ENSG00000130449 ENSG00000130449 HGNC:29316 ZSWIM6 gene ZSWIM6 Expert Review Green Rare multisystem ciliopathy Super panel Multispecialty MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Acromelic frontonasal dysostosis 603671 25105228 False 3 100;0;0 21.70 False Other - please provide details in the comments ENSG00000130449 ENSG00000130449 HGNC:29316 ADAMTS9 gene ADAMTS9 Expert Review Amber;Expert list Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-Related Ciliopathy 30609407 False 2 100;0;0 21.70 False ENSG00000163638 ENSG00000163638 HGNC:13202 ARL3 gene ARL3 Expert Review Amber;Expert list Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 35, OMIM:61816 30269812;16565502;33748123;31743939;26964041;30932721;34485303 False 2 100;0;0 21.70 False ENSG00000138175 ENSG00000138175 HGNC:694 BBIP1 gene BBIP1 Expert Review Amber;Expert list;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 18, OMIM:615995 24026985;32055034;37239474 False 2 100;0;0 21.70 False ENSG00000214413 ENSG00000214413 HGNC:28093 BBIP1 gene BBIP1 Expert Review Amber;Expert list;Radboud University Medical Center, Nijmegen;UKGTN Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 18, OMIM:615995 24026985;32055034;37239474 False 2 50;50;0 21.70 False ENSG00000214413 ENSG00000214413 HGNC:28093 CEP55 gene CEP55 Expert Review Amber;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Meckel-like syndrome;autosomal recessive lethal ciliopathy;renal dysplasia 28295209;30622327;28264986 False 2 0;100;0 21.70 False ENSG00000138180 ENSG00000138180 HGNC:1161 CEP76 gene CEP76 Expert Review Amber;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal ciliopathy, MONDO:0005308;Joubert syndrome, MONDO:0018772;Bardet-Biedl syndrome, MONDO:0015229 41105778 False 2 100;0;0 21.70 False ENSG00000101624 ENSG00000101624 HGNC:25727 CEP76 gene CEP76 Expert Review Amber;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal retinitis pigmentosa, MONDO:0019200;Joubert syndrome, MONDO:0018772;Bardet-Biedl syndrome, MONDO:0015229 41105778 False 2 100;0;0 21.70 False ENSG00000101624 ENSG00000101624 HGNC:25727 CYS1 gene CYS1 Expert Review Amber;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease, MONDO:0020642 34521872 False 2 0;100;0 21.70 False ENSG00000205795 ENSG00000205795 HGNC:18525 DCDC2 gene DCDC2 Expert Review Amber;Orphanet;Expert list;Radboud University Medical Center, Nijmegen Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Neonatal sclerosing cholangitis;Nephronophthisis 19, 616217 25557784;22558177;27319779;27469900;31821705 False 2 0;60;40 21.70 False ENSG00000146038 ENSG00000146038 HGNC:18141 GRK2 gene GRK2 Expert Review Amber;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Jeune syndrome, MONDO:0018770 33200460 False 2 0;100;0 21.70 False ENSG00000173020 ENSG00000173020 HGNC:289 KIF14 gene KIF14 Expert Review Amber;Orphanet;Expert list;Radboud University Medical Center, Nijmegen;Other 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 2 33;67;0 21.70 False ENSG00000118193 ENSG00000118193 HGNC:19181 KIF3B gene KIF3B Expert Review Amber;Literature Rare multisystem ciliopathy Super panel Multispecialty MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hepatic fibrosis;Retinitis pigmentosa 89, OMIM:618955, MONDO:0030071;postaxial polydactyly 32386558 False 2 0;100;0 21.70 False ENSG00000101350 ENSG00000101350 HGNC:6320 LRRC45 gene LRRC45 Expert Review Amber;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal ciliopathy, MONDO:0005308;Abnormal brain morphology, HP:0012443;neurodevelopmental disorder, MONDO:0700092 30131441;34716235;39638757 False 2 0;100;0 21.70 False ENSG00000169683 ENSG00000169683 HGNC:28302 LRRC45 gene LRRC45 Expert Review Amber;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal ciliopathy, MONDO:0005308;Abnormal brain morphology, HP:0012443;neurodevelopmental disorder, MONDO:0700092 34716235;39638757 False 2 100;0;0 21.70 False ENSG00000169683 ENSG00000169683 HGNC:28302 MDM1 gene MDM1 Expert Review Amber;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Retinal dystrophy, HP:0000556 41742423 False 2 100;0;0 21.70 False Other ENSG00000111554 ENSG00000111554 HGNC:29917 NEK1 gene NEK1 Expert Review Amber;Expert list Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal "Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520" 21211617;22499340;25492405;28123176 False 2 50;50;0 21.70 False ENSG00000137601 ENSG00000137601 HGNC:7744 PDIA6 gene PDIA6 Expert Review Amber;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Asphyxiating thoracic dystrophy (ATD) syndrome and infantile onset diabetes;Polycystic kidney dysplasia, HP:0000113;Diabetes mellitus, HP:0000819;Microcephaly, HP:0000252 33495992;34487921;35856135;39044457;40974269 False 2 50;50;0 21.70 False ENSG00000143870 ENSG00000143870 HGNC:30168 PDIA6 gene PDIA6 Expert Review Amber;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Asphyxiating thoracic dystrophy (ATD) syndrome and infantile onset diabetes 33495992 False 2 0;100;0 21.70 False ENSG00000143870 ENSG00000143870 HGNC:30168 POC1B gene POC1B Expert Review Amber;Expert list;UKGTN;Expert Review Amber Rare multisystem ciliopathy Super panel Multispecialty 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 21.70 False ENSG00000139323 ENSG00000139323 HGNC:30836 POC1B gene POC1B Expert Review Amber;Expert Review Amber Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 20 615973, AUTOSOMAL-RECESSIVE CONE-ROD DYSTROPHY;Joubert Syndrome;Senior-Loken Syndrome False 2 50;0;50 21.70 False ENSG00000139323 ENSG00000139323 HGNC:30836 RSG1 gene RSG1 Expert Review Amber;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal ciliopathy, MONDO:0005308;polydactyly, MONDO:0021003 29038301;40593758 False 2 100;0;0 21.70 False ENSG00000132881 ENSG00000132881 HGNC:28127 SCLT1 gene SCLT1 Expert Review Amber;Expert list Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome type IX;Senior-Loken syndrome 28486600;30425282;30237576;28005958;24285566 False 2 0;100;0 21.70 False ENSG00000151466 ENSG00000151466 HGNC:26406 SCNM1 gene SCNM1 Expert Review Amber;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XIX, OMIM:620107;orofaciodigital syndrome 19, MONDO:0859310 36084634;41291844 False 2 100;0;0 21.70 False ENSG00000163156 ENSG00000163156 HGNC:23136 SUFU gene SUFU Expert Review Amber;Expert list;Expert list Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 32, OMIM:617757 28965847 False 2 33;67;0 21.70 False ENSG00000107882 ENSG00000107882 HGNC:16466 TMEM72 gene TMEM72 Expert Review Amber;Literature Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal nephronophthisis, MONDO:0019005 41308066 False 2 100;0;0 21.70 False ENSG00000187783 ENSG00000187783 HGNC:31658 ZNF423 gene ZNF423 Orphanet;Radboud University Medical Center, Nijmegen;Expert Review Amber;Expert list;Other;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 19, OMIM:614844;Nephronophthisis 14, OMIM:614844 22863007 False 2 0;0;100 21.70 False ENSG00000102935 ENSG00000102935 HGNC:16762 ZNF423 gene ZNF423 Expert Review Amber Rare multisystem ciliopathy Super panel Multispecialty BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 19, OMIM:614844;Nephronophthisis 14, OMIM:614844 22863007;32925911;33323469 False 2 0;50;50 21.70 False ENSG00000102935 ENSG00000102935 HGNC:16762 ZNF423 gene ZNF423 Orphanet;Radboud University Medical Center, Nijmegen;Expert Review Amber;Expert list;Other;Emory Genetics Laboratory Rare multisystem ciliopathy Super panel Multispecialty BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 19, OMIM:614844;Nephronophthisis 14, OMIM:614844 22863007;32925911;33323469 False 2 0;50;50 21.70 False ENSG00000102935 ENSG00000102935 HGNC:16762 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 ISCA-37405-Loss region Expert Review Green;ClinGen Rare multisystem ciliopathy Super panel Multispecialty BIALLELIC, autosomal or pseudoautosomal 609583;juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities;266900 8852662;9856524;15138899 False 3 0;0;0 21.70 False 2 110104531 110228181 30 60 cnv_loss 2q13 recurrent region (includes NPHP1) Loss ISCA-37432-Loss region Expert Review Green;ClinGen Rare multisystem ciliopathy Super panel Multispecialty MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Schizophrenia;Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females;delayed development, intellectual disability;614527;RCAD syndrome;utero-vaginal atresia;Chromosome 17q12 deletion syndrome;Autism Spectrum Disorder;global developmental delay;Renal cysts and diabetes syndrome False 3 0;0;0 21.70 False 17 36458167 37854616 3 60 cnv_loss 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss