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 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