Entity Name Entity type Gene Symbol Sources(; separated) Level4 Level3 Level2 Model_Of_Inheritance Phenotypes Omim Orphanet HPO Publications Description Flagged GEL_Status UserRatings_Green_amber_red version ready Mode of pathogenicity EnsemblId(GRch37) EnsemblId(GRch38) HGNC Position Chromosome Position GRCh37 Start Position GRCh37 End Position GRCh38 Start Position GRCh38 End STR Repeated Sequence STR Normal Repeats STR Pathogenic Repeats Region Haploinsufficiency Score Region Triplosensitivity Score Region Required Overlap Percentage Region Variant Type Region Verbose Name AHI1 gene AHI1 Expert Review Green;Victorian Clinical Genetics Services Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 3, MIM# 608629 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 15322546;15467982;16155189 False 3 100;0;0 1.28 True ENSG00000135541 ENSG00000135541 HGNC:21575 ARL13B gene ARL13B Expert Review Green;Victorian Clinical Genetics Services Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 8, MIM# 612291 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 18674751;25138100;26092869;27894351;29255182;17488627 False 3 100;0;0 1.28 True ENSG00000169379 ENSG00000169379 HGNC:25419 ARL3 gene ARL3 Expert Review Green;Literature Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 35 MIM#618161 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 30269812;16565502 False 3 100;0;0 1.28 True ENSG00000138175 ENSG00000138175 HGNC:694 ARMC9 gene ARMC9 Expert list;Expert Review Green Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Joubert syndrome 30, MIM# 617622" Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 28625504 False 3 100;0;0 1.28 True ENSG00000135931 ENSG00000135931 HGNC:20730 B9D2 gene B9D2 Expert Review Green;Victorian Clinical Genetics Services Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 34, MIM# 614175;Meckel syndrome 10, MIM# 614175 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 26092869;21763481;32726168 False 3 100;0;0 1.28 True ENSG00000123810 ENSG00000123810 HGNC:28636 C2CD3 gene C2CD3 Expert list;Expert Review Green Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Orofaciodigital syndrome XIV 615948" Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 PMID: 24997988 False 3 100;0;0 1.28 True ENSG00000168014 ENSG00000168014 HGNC:24564 C5orf42 gene C5orf42 Expert Review Green;Victorian Clinical Genetics Services Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Joubert syndrome 17, MIM# 614615;MONDO:0013824;Orofaciodigital syndrome VI, MIM# 277170" Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 22425360;24178751 False 3 100;0;0 1.28 True ENSG00000197603 ENSG00000197603 HGNC:25801 CBY1 gene CBY1 Expert Review Green;Literature Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal intellectual disability;cerebellar ataxia;molar tooth sign;polydactyly;Joubert syndrome Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 33131181;25103236;25220153 False 3 100;0;0 1.28 True ENSG00000100211 ENSG00000100211 HGNC:1307 CC2D2A gene CC2D2A Expert Review Green;Victorian Clinical Genetics Services Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 9, MIM# 612285;Meckel syndrome 6, MIM# 612284;COACH syndrome 2, MIM# 619111 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 18387594;18950740;18513680;18950740;19574260;21725307;33486889 False 3 100;0;0 1.28 True ENSG00000048342 ENSG00000048342 HGNC:29253 CEP104 gene CEP104 Expert list;Expert Review Green Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 25, MIM# 616781;MONDO:0014770 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 26477546 False 3 100;0;0 1.28 True ENSG00000116198 ENSG00000116198 HGNC:24866 CEP120 gene CEP120 Expert list;Expert Review Green Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Joubert syndrome 31, MIM# 617761" Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 27208211;33486889;29847808 False 3 100;0;0 1.28 True ENSG00000168944 ENSG00000168944 HGNC:26690 CEP290 gene CEP290 Expert Review Green;Victorian Clinical Genetics Services Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 5, MIM# 610188;Meckel syndrome 4, MIM# 611134 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 16682973;16682970;17705300;33370260;32600475 False 3 100;0;0 1.28 True ENSG00000198707 ENSG00000198707 HGNC:29021 CEP41 gene CEP41 Expert Review Green;Victorian Clinical Genetics Services Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 15, MIM# 614464 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 22246503 False 3 100;0;0 1.28 True ENSG00000106477 ENSG00000106477 HGNC:12370 CSPP1 gene CSPP1 Expert Review Green;Victorian Clinical Genetics Services Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 21, MIM# 615636;MONDO:0014288 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 24360808;24360803;24360807;25997910 False 3 100;0;0 1.28 True ENSG00000104218 ENSG00000104218 HGNC:26193 DDX59 gene DDX59 Expert Review;Expert Review Green Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome V (MIM#174300) Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 29127725;23972372;28711741 False 3 100;0;0 1.28 True ENSG00000118197 ENSG00000118197 HGNC:25360 FAM149B1 gene FAM149B1 Expert Review Green;Literature Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert;Ciliopathy Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 PMID: 30905400 False 3 100;0;0 1.28 True ENSG00000138286 ENSG00000138286 HGNC:29162 IFT74 gene IFT74 Expert Review Green;Literature Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 40, MIM# 619582 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 PMID: 33531668 False 3 100;0;0 1.28 True ENSG00000096872 ENSG00000096872 HGNC:21424 INPP5E gene INPP5E Expert Review Green;Victorian Clinical Genetics Services Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 1, MIM# 213300;MONDO:0008944 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 19668216;32139166;29230161;29052317;27998989;27401686 False 3 100;0;0 1.28 True ENSG00000148384 ENSG00000148384 HGNC:21474 KIAA0556 gene KIAA0556 Expert Review;Expert Review Green Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 26, MIM# 616784 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 26714646;27245168 False 3 100;0;0 1.28 True ENSG00000047578 ENSG00000047578 HGNC:29068 KIAA0586 gene KIAA0586 Expert Review Green;Literature Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Joubert syndrome 23 616490;Short-rib thoracic dysplasia 14 with polydactyly 616546" Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 PMID: 26096313 False 3 100;0;0 1.28 True ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA0753 gene KIAA0753 Expert list;Expert Review Green Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "?Orofaciodigital syndrome XV 617127;Joubert syndrome 38, MIM# 619476" Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 PMID: 31816441;28220259;29138412;26643951 False 3 100;0;0 1.28 True ENSG00000198920 ENSG00000198920 HGNC:29110 KIF7 gene KIF7 Expert Review Green;Victorian Clinical Genetics Services Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 12, MIM# 200990;Acrocallosal syndrome, MIM# 200990;MONDO:0008708;Hydrolethalus syndrome 2, MIM# 614120 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 21552264;21633164;19666503;30445565;26648833;26349186;26174511;25714560 False 3 100;0;0 1.28 True ENSG00000166813 ENSG00000166813 HGNC:30497 LAMA1 gene LAMA1 Expert Review Green;Literature Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Poretti-Boltshauser syndrome, MIM# 615960" Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 34423300 False 3 100;0;0 1.28 True ENSG00000101680 ENSG00000101680 HGNC:6481 MKS1 gene MKS1 Expert Review Green;Victorian Clinical Genetics Services Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 28, MIM# 617121;MONDO:0014928;Meckel syndrome 1, MIM# 249000;MONDO:0009571 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 17377820;24886560;19776033;33193692;27570071;27377014 False 3 100;0;0 1.28 True ENSG00000011143 ENSG00000011143 HGNC:7121 NPHP1 gene NPHP1 Expert Review Green;Victorian Clinical Genetics Services Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 4, MIM# 609583 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 15138899;32139166;28347285 False 3 100;0;0 1.28 True ENSG00000144061 ENSG00000144061 HGNC:7905 OFD1 gene OFD1 Expert Review Green;Victorian Clinical Genetics Services Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Joubert syndrome 10, MIM# 300804 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 19800048;22353940;32944789;30895720 False 3 100;0;0 1.28 True ENSG00000046651 ENSG00000046651 HGNC:2567 PDE6D gene PDE6D Expert Review Green;Victorian Clinical Genetics Services Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 22, OMIM #615665 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 24166846;30423442 False 3 50;50;0 1.28 True ENSG00000156973 ENSG00000156973 HGNC:8788 PIBF1 gene PIBF1 Expert list;Expert Review Green Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 33, OMIM #617767 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 26167768;30858804;29695797;33004012 False 3 100;0;0 1.28 True ENSG00000083535 ENSG00000083535 HGNC:23352 RPGRIP1L gene RPGRIP1L Expert Review Green;Victorian Clinical Genetics Services Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 7, MIM# 611560;Meckel syndrome 5, MIM# 611561 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 17558409;17558407;17960139;26071364 False 3 100;0;0 1.28 True ENSG00000103494 ENSG00000103494 HGNC:29168 SUFU gene SUFU Expert Review Green;Victorian Clinical Genetics Services Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 32, MIM#617757;SUFU-related neurodevelopmental disorder, Joubert-like Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 28965847;34675124;33024317 False 3 100;0;0 1.28 True ENSG00000107882 ENSG00000107882 HGNC:16466 TCTN1 gene TCTN1 Expert Review Green;Victorian Clinical Genetics Services Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 13, MIM# 614173;MONDO:0013608 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 21725307;26477546;31302911;26489806;22693042 False 3 100;0;0 1.28 True ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN2 gene TCTN2 Expert Review Green;Victorian Clinical Genetics Services Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 24, MIM# 616654;MONDO:0014724;Meckel syndrome 8, MIM# 613885;MONDO:0013482 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 21462283;21565611;25118024;21725307;32139166;25118024;32655147;33590725 False 3 100;0;0 1.28 True ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Expert Review Green;Victorian Clinical Genetics Services Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 18, MIM# 614815;MONDO:0013896 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 22883145;32139166;25118024 False 3 100;0;0 1.28 True ENSG00000119977 ENSG00000119977 HGNC:24519 TMEM138 gene TMEM138 Expert Review Green;Victorian Clinical Genetics Services Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 16, MIM# 614465;MONDO:0013764 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 22282472;28102635;27434533 False 3 100;0;0 1.28 True ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM216 gene TMEM216 Expert Review Green;Victorian Clinical Genetics Services Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 2, MIM# 608091;MONDO:0011963;Meckel syndrome 2, MIM# 603194;MONDO:0011296 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 20036350;20512146 False 3 100;0;0 1.28 True ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM218 gene TMEM218 Expert Review Green;Literature Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 39, MIM#619562;retinal dystrophy;polycystic kidneys;occipital encephalocele Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 33791682;25161209 False 3 100;0;0 1.28 True ENSG00000150433 ENSG00000150433 HGNC:27344 TMEM231 gene TMEM231 Expert Review Green;Victorian Clinical Genetics Services Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20, MIM# 614970;MONDO:0013994;Meckel syndrome 11, MIM# 615397;MONDO:0014164 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 23012439;23349226;22179047;30617574;27449316;31663672;25869670 False 3 100;0;0 1.28 True ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert Review Green;Victorian Clinical Genetics Services Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 14, MIM# 614424 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 22152675 False 3 100;0;0 1.28 True ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM67 gene TMEM67 Expert Review Green;Victorian Clinical Genetics Services Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 6, MIM# 610688;Meckel syndrome 3, MIM# 607361 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 16415887;17377820;17160906;19508969 False 3 100;0;0 1.28 True ENSG00000164953 ENSG00000164953 HGNC:28396 TOGARAM1 gene TOGARAM1 Expert Review Green;Literature Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 37, MIM# 619185 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 32747439;32453716 False 3 100;0;0 1.28 True ENSG00000198718 ENSG00000198718 HGNC:19959 TXNDC15 gene TXNDC15 Expert Review;Expert Review Green Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 14, MIM# 619879 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 30851085;27894351 False 3 100;0;0 1.28 True ENSG00000113621 ENSG00000113621 HGNC:20652 B9D1 gene B9D1 Expert Review Amber;Victorian Clinical Genetics Services Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 9, MIM# 614209;Joubert syndrome 27, MIM# 617120 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 24886560;21493627;25920555 False 2 0;100;0 1.28 True ENSG00000108641 ENSG00000108641 HGNC:24123 CCDC28B gene CCDC28B Expert list;Expert Review Amber Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 32139166 False 2 0;100;0 1.28 True ENSG00000160050 ENSG00000160050 HGNC:28163 CENPF gene CENPF Expert Review;Expert Review Amber Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Stromme syndrome (MIM#243605) Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 25564561;28407396;26820108 False 2 0;100;0 1.28 True ENSG00000117724 ENSG00000117724 HGNC:1857 CEP76 gene CEP76 Expert Review Amber;Other Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal complex neurodevelopmental disorder MONDO:0100038;Joubert syndrome;Bardet-Biedl syndrome;retinitis pigmentosa Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 False 2 100;0;0 1.28 True ENSG00000101624 ENSG00000101624 HGNC:25727 DHCR7 gene DHCR7 Expert Review;Expert Review Amber Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome (MIM#270400) Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 23059950 False 2 0;100;0 1.28 True ENSG00000172893 ENSG00000172893 HGNC:2860 EVC gene EVC Expert Review;Expert Review Amber Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome (MIM#225500) Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 23220543 False 2 0;100;0 1.28 True ENSG00000072840 ENSG00000072840 HGNC:3497 GLI3 gene GLI3 Expert Review;Expert Review Amber Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Greig cephalopolysyndactyly syndrome (MIM#175700);Pallister-Hall syndrome (MIM#146510) Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 False 2 0;100;0 1.28 True ENSG00000106571 ENSG00000106571 HGNC:4319 HYLS1 gene HYLS1 Expert list;Expert Review Amber Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal "Hydrolethalus syndrome 236680" Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 PMID: 26830932 False 2 0;100;0 1.28 True ENSG00000198331 ENSG00000198331 HGNC:26558 ICK gene ICK Expert Review;Expert Review Amber Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Endocrine-cerebroosteodysplasia (MIM#612651) Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 19185282;27069622;27466187;24797473;24853502 False 2 0;100;0 1.28 True ENSG00000112144 ENSG00000112144 HGNC:21219 NID1 gene NID1 Expert Review Amber;Victorian Clinical Genetics Services Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Dandy-Walker malformation and occipital cephalocele;Hydrocephalus with or without seizures Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 23674478;25558065;12480912;30773799 False 2 0;100;0 1.28 True ENSG00000116962 ENSG00000116962 HGNC:7821 NPHP3 gene NPHP3 Expert Review Amber;Victorian Clinical Genetics Services Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 7, MIM# 267010 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 18371931 False 2 0;100;0 1.28 True ENSG00000113971 ENSG00000113971 HGNC:7907 SLC30A7 gene SLC30A7 Expert Review Amber;Literature Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Joubert syndrome (MONDO:0018772), SLC30A7-related Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 PMID: 35751429 False 2 0;100;0 1.28 True ENSG00000162695 ENSG00000162695 HGNC:19306 TMEM107 gene TMEM107 Expert Review;Expert Review Amber Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 13 (MIM#617562);Orofaciodigital syndrome XVI (MIM#617563);Joubert syndrome 29, MIM# 617562 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 26595381;26123494 False 2 0;100;0 1.28 True ENSG00000179029 ENSG00000179029 HGNC:28128 TOPORS gene TOPORS Expert Review Amber;Literature Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome, MONDO:0018772, TOPORS-related Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 PMID: 37227088;34132027 False 2 0;100;0 1.28 True ENSG00000197579 ENSG00000197579 HGNC:21653 VPS13B gene VPS13B Expert Review;Expert Review Amber Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BIALLELIC, autosomal or pseudoautosomal Cohen syndrome (MIM# 216550) Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 False 2 0;100;0 1.28 True ENSG00000132549 ENSG00000132549 HGNC:2183 ZNF423 gene ZNF423 Expert Review;Expert Review Amber Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Joubert syndrome 19 (MIM#614844) Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 22863007 False 2 0;100;0 1.28 True Other ENSG00000102935 ENSG00000102935 HGNC:16762 ZSWIM6 gene ZSWIM6 Expert Review;Expert Review Amber Joubert syndrome and other neurological ciliopathies Neurology and neurodevelopmental disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Acromelic frontonasal dysostosis (MIM#603671);Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features, MIM#617865 Molar tooth sign on MRI;HP:0002419; Joubert syndrome;MONDO:0018772 25105228;28213462;29198722 False 2 0;100;0 1.28 True ENSG00000130449 ENSG00000130449 HGNC:29316