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 ALG5 gene ALG5 Expert Review Green;Literature Renal Macrocystic Disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 7, MIM# 620056;Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline Renal cyst;HP:0000107 35896117 False 3 100;0;0 1.0 True ENSG00000120697 ENSG00000120697 HGNC:20266 ALG8 gene ALG8 Expert Review;Expert Review Green Renal Macrocystic Disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease 3 with or without kidney cysts, MIM# 617874 Renal cyst;HP:0000107 PMID: 28375157, 32457805 False 3 100;0;0 1.0 True ENSG00000159063 ENSG00000159063 HGNC:23161 ALG9 gene ALG9 Expert Review Green;Literature Renal Macrocystic Disease Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Il, MIM#608776;Gillessen-Kaesbach-Nishimura syndrome, MIM#263210;Polycystic kidney disease;ALG9-associated autosomal dominant polycystic kidney disease MONDO:0700000 Renal cyst;HP:0000107 31395617 False 3 50;50;0 1.0 True ENSG00000086848 ENSG00000086848 HGNC:15672 COL4A1 gene COL4A1 Expert list;Expert Review Green Renal Macrocystic Disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773" Renal cyst;HP:0000107 25719457;15882279 False 3 100;0;0 1.0 True ENSG00000187498 ENSG00000187498 HGNC:2202 CYS1 gene CYS1 Expert Review Green;Literature Renal Macrocystic Disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease MONDO:0020642, CYS1-related Renal cyst;HP:0000107 41720266;34521872 False 3 100;0;0 1.0 True ENSG00000205795 ENSG00000205795 HGNC:18525 DNAJB11 gene DNAJB11 Expert list;Expert Review Green Renal Macrocystic Disease Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061;Ivermark II syndrome. Renal cyst;HP:0000107 29706351, 29777155, 32631624, 35664268, 32775842, 33129895, 34177435 False 3 100;0;0 1.0 True ENSG00000090520 ENSG00000090520 HGNC:14889 DZIP1L gene DZIP1L Expert list;Expert Review Green Renal Macrocystic Disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease 5, MIM#617610 Renal cyst;HP:0000107 28530676 False 3 100;0;0 1.0 True ENSG00000158163 ENSG00000158163 HGNC:26551 FLCN gene FLCN Expert Review;Expert Review Green Renal Macrocystic Disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Birt-Hogg-Dube syndrome, MIM# 135150" Renal cyst;HP:0000107 False 3 100;0;0 1.0 True ENSG00000154803 ENSG00000154803 HGNC:27310 GANAB gene GANAB Expert Review Green;KidGen_Cystic v38.1.0 Renal Macrocystic Disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 3, MIM# 600666 Renal cyst;HP:0000107 27259053 False 3 100;0;0 1.0 True ENSG00000089597 ENSG00000089597 HGNC:4138 HNF1B gene HNF1B Expert Review Green;KidGen_Cystic v38.1.0 Renal Macrocystic Disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cysts and diabetes syndrome, MIM# 137920 Renal cyst;HP:0000107 39114399;38044981;29576871;33305128;25700310;22432796 False 3 100;0;0 1.0 True ENSG00000108753 ENSG00000275410 HGNC:11630 IFT140 gene IFT140 Expert Review Green;Literature Renal Macrocystic Disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Polycystic kidney disease 9, susceptibility to} MIM#621164 Renal cyst;HP:0000107 34890546 False 3 100;0;0 1.0 True ENSG00000187535 ENSG00000187535 HGNC:29077 MUC1 gene MUC1 Expert Review Green;KidGen_Cystic v38.1.0 Renal Macrocystic Disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Medullary cystic kidney disease 1 (MIM#174000) Renal cyst;HP:0000107 23396133;29967284;29156055 False 3 100;0;0 1.0 True ENSG00000185499 ENSG00000185499 HGNC:7508 NEK8 gene NEK8 Expert Review Green;Other Renal Macrocystic Disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 8, MIM# 620903 Renal cyst;HP:0000107 37598857 False 3 67;33;0 1.0 True Other ENSG00000160602 ENSG00000160602 HGNC:13387 PKD1 gene PKD1 Expert Review Green;KidGen_Cystic v38.1.0 Renal Macrocystic Disease Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Polycystic kidney disease 1, MIM# 173900 Renal cyst;HP:0000107 False 3 100;0;0 1.0 True ENSG00000008710 ENSG00000008710 HGNC:9008 PKD2 gene PKD2 Expert Review Green;KidGen_Cystic v38.1.0 Renal Macrocystic Disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 2, MIM#613095 AD Renal cyst;HP:0000107 False 3 100;0;0 1.0 True ENSG00000118762 ENSG00000118762 HGNC:9009 PKHD1 gene PKHD1 Expert Review Green;KidGen_Cystic v38.1.0 Renal Macrocystic Disease Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 Renal cyst;HP:0000107 False 3 50;50;0 1.0 True ENSG00000170927 ENSG00000170927 HGNC:9016 PMM2 gene PMM2 Expert Review Green;Literature Renal Macrocystic Disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease (HIPKD), MONDO:0020642, PMM2-related Renal cyst;HP:0000107 28373276;32595772 False 3 100;0;0 1.0 True ENSG00000140650 ENSG00000140650 HGNC:9115 PRKCSH gene PRKCSH Expert Review Green;KidGen_Cystic v38.1.0 Renal Macrocystic Disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease 1, MIM# 174050, with or without kidney cysts Renal cyst;HP:0000107 12577059 False 3 50;50;0 1.0 True ENSG00000130175 ENSG00000130175 HGNC:9411 SEC63 gene SEC63 Expert list;Expert Review Green Renal Macrocystic Disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease 2, MIM#617004 Renal cyst;HP:0000107 15133510 False 3 50;0;50 1.0 True ENSG00000025796 ENSG00000025796 HGNC:21082 TSC1 gene TSC1 Expert Review Green;KidGen_Cystic v38.1.0 Renal Macrocystic Disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis-1, MIM#191100 Renal cyst;HP:0000107 32917966 False 3 100;0;0 1.0 True ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Australian Genomics Health Alliance Brain Malformations Flagship;Expert Review Green;KidGen_Cystic v38.1.0;Victorian Clinical Genetics Services Renal Macrocystic Disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tuberous sclerosis-2, MIM# 613254 Renal cyst;HP:0000107 False 3 100;0;0 1.0 True ENSG00000103197 ENSG00000103197 HGNC:12363 UMOD gene UMOD Expert Review Green;KidGen_Cystic v38.1.0 Renal Macrocystic Disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Tubulointerstitial kidney disease, autosomal dominant, 1, MIM# 162000 Renal cyst;HP:0000107 40533238;23988501;12471200;32954071;33397327;23396133;32450155 False 3 100;0;0 1.0 True ENSG00000169344 ENSG00000169344 HGNC:12559 VHL gene VHL Expert list;Expert Review Green Renal Macrocystic Disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "von Hippel-Lindau syndrome, MIM# 193300" Renal cyst;HP:0000107 False 3 100;0;0 1.0 True ENSG00000134086 ENSG00000134086 HGNC:12687 BICC1 gene BICC1 Expert Review Amber;Victorian Clinical Genetics Services Renal Macrocystic Disease Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Multicystic dysplastic kidney, MONDO:0015988;polycystic kidney disease, MONDO:0020642 Renal cyst;HP:0000107 21922595, 35005812, 39253489, 39655693, 41278337 False 2 0;50;50 1.0 True ENSG00000122870 ENSG00000122870 HGNC:19351 COL4A3 gene COL4A3 Expert Review Amber;Literature Renal Macrocystic Disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alport syndrome MONDO:0018965 Renal cyst;HP:0000107 39190485;38514012 False 2 50;50;0 1.0 True ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A4 gene COL4A4 Expert Review Amber;Literature Renal Macrocystic Disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alport syndrome MONDO:0018965 Renal cyst;HP:0000107 38514012 False 2 50;50;0 1.0 True ENSG00000081052 ENSG00000081052 HGNC:2206 COL4A5 gene COL4A5 Expert Review Amber;Literature Renal Macrocystic Disease Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Alport syndrome MONDO:0018965 Renal cyst;HP:0000107 38790225;38680391;38514012 False 2 50;50;0 1.0 True ENSG00000188153 ENSG00000188153 HGNC:2207 SEC16B gene SEC16B Expert Review;Expert Review Amber Renal Macrocystic Disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related Renal cyst;HP:0000107 PMID: 28375157, 28862642, 30652979 False 2 0;50;50 1.0 True ENSG00000120341 ENSG00000120341 HGNC:30301 UGGT1 gene UGGT1 Expert Review Amber;Literature Renal Macrocystic Disease Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type IICC, MIM# 621381 Renal cyst;HP:0000107 PMID:40267907 False 2 0;100;0 1.0 True ENSG00000136731 ENSG00000136731 HGNC:15663 CFAP47 gene CFAP47 Expert Review Red;Literature Renal Macrocystic Disease Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Cystic kidney disease MONDO:0002473 Renal cyst;HP:0000107 PMID: 39698362 False 1 0;100;0 1.0 True ENSG00000165164 ENSG00000165164 HGNC:26708 LRP5 gene LRP5 Expert list;Expert Review Red Renal Macrocystic Disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Polycystic liver disease 4 with or without kidney cysts, MIM# 617875" Renal cyst;HP:0000107 25920554;24706814 False 1 0;0;100 1.0 True ENSG00000162337 ENSG00000162337 HGNC:6697 ISCA-37432-Loss region Expert Review Green;Expert list;Expert list Renal Macrocystic Disease Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown "Chromosome 17q12 deletion syndrome MIM#614527;Renal cysts and diabetes (RCAD) syndrome" Renal cyst;HP:0000107 PMID: 19844256 False 3 100;0;0 1.0 True 17 36458167 37854617 3 80 cnv_loss Chromosome 17q12 deletion syndrome