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 ATXN10 gene ATXN10 Expert Review Red;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 21565611 False 1 0;0;100 1.26 True ENSG00000130638 ENSG00000130638 HGNC:10549 B9D1 gene B9D1 Expert Review Amber;Expert Review Red;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 9, OMIM #614209;Joubert syndrome 27, OMIM #617120 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 False 1 0;50;50 1.26 True ENSG00000108641 ENSG00000108641 HGNC:24123 C2CD3 gene C2CD3 Expert list;Expert Review Red;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome XIV, MIM# 615948 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 False 1 33;33;33 1.26 True ENSG00000168014 ENSG00000168014 HGNC:24564 C5orf42 gene C5orf42 Expert Review Red;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 17, MIM#614615;Orofaciodigital syndrome VI, MIM# 277170 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 False 1 0;0;100 1.26 True ENSG00000197603 ENSG00000197603 HGNC:25801 CCDC28B gene CCDC28B Expert Review Red;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders Other {Bardet-Biedl syndrome 1, modifier of}, MIM#209900 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 False 1 0;0;100 1.26 True ENSG00000160050 ENSG00000160050 HGNC:28163 CEP104 gene CEP104 Expert Review Red;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 25, MIM# 616781;MONDO:0014770 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 False 1 0;0;100 1.26 True ENSG00000116198 ENSG00000116198 HGNC:24866 EVC gene EVC Expert Review;Expert Review Green;Expert Review Red;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ellis-van Creveld syndrome, MIM#225500 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 False 1 0;50;50 1.26 True ENSG00000072840 ENSG00000072840 HGNC:3497 EVC2 gene EVC2 Expert Review Red;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ellis van Creveld syndrome Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 False 1 0;50;50 1.26 True ENSG00000173040 ENSG00000173040 HGNC:19747 FOXC1 gene FOXC1 Expert Review Red;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders Unknown Axenfeld-Rieger syndrome, type 3, MIM#602482 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 False 1 0;0;100 1.26 True ENSG00000054598 ENSG00000054598 HGNC:3800 HYLS1 gene HYLS1 Expert list;Expert Review Red;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hydrolethalus syndrome (MIM#236680);Joubert syndrome Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 15843405;18648327;19400947;19656802;32509774;26830932 False 1 0;50;50 1.26 True ENSG00000198331 ENSG00000198331 HGNC:26558 ICK gene ICK Expert list;Expert Review Red Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Endocrine-cerebroosteodysplasia, MIM# 612651" Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 19185282;27069622 False 1 50;0;50 1.26 True ENSG00000112144 ENSG00000112144 HGNC:21219 IFT57 gene IFT57 Expert Review Red;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders Unknown Orofaciodigital syndrome XVIII, MIM#617927 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 False 1 0;0;100 1.26 True ENSG00000114446 ENSG00000114446 HGNC:17367 IFT81 gene IFT81 Expert Review Red;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 19 with or without polydactyly;OMIM #617895 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 26275418 False 1 0;0;100 1.26 True ENSG00000122970 ENSG00000122970 HGNC:14313 KIAA0556 gene KIAA0556 Expert Review Red;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 26, MIM# 616784 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 26714646;27245168 False 1 0;0;100 1.26 True ENSG00000047578 ENSG00000047578 HGNC:29068 KIAA0586 gene KIAA0586 Expert Review Red;KidGen_CilioNephronop v38.1.0;Literature;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546;Joubert syndrome 23, MIM# 616490 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 26166481;26096313;29146704 False 1 50;0;50 1.26 True ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA0753 gene KIAA0753 Expert list;Expert Review Red;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Short-rib skeletal dysplasia;Orofaciodigital syndrome XV, MIM# 617127;Jeune ATD Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 29138412;26643951;31816441 False 1 50;0;50 1.26 True ENSG00000198920 ENSG00000198920 HGNC:29110 KIF14 gene KIF14 Expert Review Red;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders Unknown Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 False 1 0;0;100 1.26 True ENSG00000118193 ENSG00000118193 HGNC:19181 KIF7 gene KIF7 Expert Review Red;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Acrocallosal syndrome, MIM# 200990;Joubert syndrome 12, MIM# 200990 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 False 1 0;0;100 1.26 True ENSG00000166813 ENSG00000166813 HGNC:30497 PDE6D gene PDE6D Expert Review Amber;Expert Review Red;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 22, OMIM #615665 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 24166846 False 1 0;50;50 1.26 True ENSG00000156973 ENSG00000156973 HGNC:8788 POC1B gene POC1B Expert list;Expert Review Red;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Cone-rod dystrophy 20, MIM#615973 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 False 1 0;0;100 1.26 True ENSG00000139323 ENSG00000139323 HGNC:30836 SLC41A1 gene SLC41A1 Expert Review Red;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 2, MIM# 619468 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 23661805 False 1 0;0;100 1.26 True ENSG00000133065 ENSG00000133065 HGNC:19429 TCTN1 gene TCTN1 Expert Review Red;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 13, MIM# 614173 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 21725307;26477546;31302911;26489806;22693042 False 1 0;0;100 1.26 True ENSG00000204852 ENSG00000204852 HGNC:26113 TRIM32 gene TRIM32 Expert Review Red;KidGen_CilioNephronop v38.1.0 Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 11, MIM# 615988 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 16606853 False 1 0;0;100 1.26 True ENSG00000119401 ENSG00000119401 HGNC:16380 WDR34 gene WDR34 Expert Review Green;Expert Review Red;KidGen_CilioNephronop v38.1.0;Victorian Clinical Genetics Services Renal Ciliopathies and Nephronophthisis Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633 Abnormality of renal medullary morphology;HP:0025361; Renal cyst;HP:0000107 False 1 0;0;100 1.26 True ENSG00000119333 ENSG00000119333 HGNC:28296