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 ARMC9 gene ARMC9 Expert Review Green;Literature Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 28625504 False 3 0;100;0 0.47 False ENSG00000135931 ENSG00000135931 HGNC:20730 AHI1 gene AHI1 Eligibility statement prior genetic testing;Other Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome-3 False 1 100;0;0 0.47 False ENSG00000135541 ENSG00000135541 HGNC:21575 ARL13B gene ARL13B Expert Review Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 8 PMID: 18674751; 25138100 False 1 100;0;0 0.47 False ENSG00000169379 ENSG00000169379 HGNC:25419 B9D1 gene B9D1 Expert Review Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Meckel-Gruber syndrome; Joubert syndrome PMID: 24886560; 25920555 False 1 0;0;100 0.47 False ENSG00000108641 ENSG00000108641 HGNC:24123 B9D2 gene B9D2 Expert Review Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Meckel syndrome; Joubert syndrome 26092869 False 1 0;0;100 0.47 False ENSG00000123810 ENSG00000123810 HGNC:28636 C2CD3 gene C2CD3 Expert Review Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XIV 24997988 False 1 0;0;100 0.47 False ENSG00000168014 ENSG00000168014 HGNC:24564 C5orf42 gene C5orf42 Expert Review Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome; Oral-facial-digital syndrome type VI 22693042; 22425360; 25920555 False 1 100;0;0 0.47 False ENSG00000197603 ENSG00000197603 HGNC:25801 CC2D2A gene CC2D2A Eligibility statement prior genetic testing;Other Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 9 False 1 100;0;0 0.47 False ENSG00000048342 ENSG00000048342 HGNC:29253 CEP290 gene CEP290 Eligibility statement prior genetic testing;Other Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 5 False 1 100;0;0 0.47 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP41 gene CEP41 Expert Review Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 22246503 False 1 100;0;0 0.47 False ENSG00000106477 ENSG00000106477 HGNC:12370 CSPP1 gene CSPP1 Expert Review Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome, Meckel-Gruber syndrome 24360808; 24360807; 24360803 False 1 100;0;0 0.47 False ENSG00000104218 ENSG00000104218 HGNC:26193 INPP5E gene INPP5E Expert Review Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 23386033; 26748598 False 1 100;0;0 0.47 False ENSG00000148384 ENSG00000148384 HGNC:21474 KIAA0586 gene KIAA0586 Expert Review Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome, Short-rib thoracic dysplasia 14 with polydactyly 26096313 False 1 100;0;0 0.47 False ENSG00000100578 ENSG00000100578 HGNC:19960 KIF7 gene KIF7 Expert Review Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome; Acrocallosal syndrome 21633164 False 1 100;0;0 0.47 False ENSG00000166813 ENSG00000166813 HGNC:30497 MKS1 gene MKS1 Expert Review Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome; Meckel-Gruber syndrome 24886560; 26490104 False 1 100;0;0 0.47 False ENSG00000011143 ENSG00000011143 HGNC:7121 NPHP1 gene NPHP1 Expert Review Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome, Nephronophthisis 15138899; 15689444; 22982934 False 1 100;0;0 0.47 False ENSG00000144061 ENSG00000144061 HGNC:7905 OFD1 gene OFD1 Expert Review Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies Other - please specifiy in evaluation comments X-linked Joubert syndrome; Oral-facial-digital syndrome I 22353940; 19800048 False 1 100;0;0 0.47 False ENSG00000046651 ENSG00000046651 HGNC:2567 PDE6D gene PDE6D Expert Review Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 24166846 False 1 0;50;50 0.47 False ENSG00000156973 ENSG00000156973 HGNC:8788 PIBF1 gene PIBF1 Expert Review;Literature;Research Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome; vermis hypoplasia; thick superior cerebellar peduncles; superior cerebellar dysplasia; ataxia; developmental delay PMID: 26167768 False 1 0;0;0 0.47 False Other - please provide details in the comments ENSG00000083535 ENSG00000083535 HGNC:23352 POC1B gene POC1B Expert Review Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome; cone-rod dystrophy 25044745 False 1 0;0;100 0.47 False ENSG00000139323 ENSG00000139323 HGNC:30836 RPGRIP1L gene RPGRIP1L Expert Review Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome; COACH syndrome; Meckel-Gruber syndrome 17558407; 17558409; 19574260 False 1 100;0;0 0.47 False ENSG00000103494 ENSG00000103494 HGNC:29168 TCTN1 gene TCTN1 Expert Review Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 21725307; 22693042 False 1 100;0;0 0.47 False ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN2 gene TCTN2 Expert Review Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome; Meckel-Gruber syndrome 25118024; 21565611 False 1 100;0;0 0.47 False ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Expert Review Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome; Orofaciodigital syndrome IV 25118024 False 1 100;0;0 0.47 False ENSG00000119977 ENSG00000119977 HGNC:24519 TMEM138 gene TMEM138 Expert Review Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 22282472 False 1 100;0;0 0.47 False ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM216 gene TMEM216 Expert Review Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome; Meckel-Gruber syndrome 22282472; 20036350; 20512146 False 1 100;0;0 0.47 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM231 gene TMEM231 Expert Review Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome; Meckel-Gruber syndrome 23012439; 23349226 False 1 0;0;0 0.47 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert Review Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 22152675 False 1 100;0;0 0.47 False ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM67 gene TMEM67 Eligibility statement prior genetic testing;Other Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 6 False 1 100;0;0 0.47 False ENSG00000164953 ENSG00000164953 HGNC:28396 TTC21B gene TTC21B Expert Review Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal "Nephronophthisis 12; Short-rib thoracic dysplasia 4 with or without polydactyly " 21068128; 21258341 False 1 100;0;0 0.47 False ENSG00000123607 ENSG00000123607 HGNC:25660 ZNF423 gene ZNF423 Expert Review Joubert syndrome Congenital malformations caused by ciliopathies Ciliopathies BIALLELIC, autosomal or pseudoautosomal Joubert syndrome; nephronophthisis 22863007 False 1 0;0;100 0.47 False ENSG00000102935 ENSG00000102935 HGNC:16762