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;NHS GMS Cystic kidney disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic kidney disease 7, OMIM:620056 35896117 False 3 100;0;0 8.8 False ENSG00000120697 ENSG00000120697 HGNC:20266 ALG8 gene ALG8 Expert Review;Expert Review Green Cystic kidney disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown cystic liver disease;cystic kidney disease;Polycystic liver disease 3 with or without kidney cysts, 617874 30135240;28375157;15235028 False 3 100;0;0 8.8 False ENSG00000159063 ENSG00000159063 HGNC:23161 ALG9 gene ALG9 Expert Review;Expert Review Green Cystic kidney disease Renal BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal cystic liver disease;cystic kidney disease;Gillessen-Kaesbach-Nishimura syndrome, 263210 31395617;28932688 False 3 100;0;0 8.8 False ENSG00000086848 ENSG00000086848 HGNC:15672 ANKS6 gene ANKS6 Expert;Expert Review Green Cystic kidney disease Renal BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Nephronophthisis 16, OMIM:615382 34740236 False 3 100;0;0 8.8 True ENSG00000165138 ENSG00000165138 HGNC:26724 CEP164 gene CEP164 Expert;Expert Review Green Cystic kidney disease Renal BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease False 3 100;0;0 8.8 True ENSG00000110274 ENSG00000110274 HGNC:29182 CEP83 gene CEP83 Expert list;Expert Review Green Cystic kidney disease Renal BIALLELIC, autosomal or pseudoautosomal NEPHRONOPHTHISIS 18 24882706 False 3 100;0;0 8.8 False ENSG00000173588 ENSG00000173588 HGNC:17966 CFAP47 gene CFAP47 Expert Review Green;Literature;NHS GMS Cystic kidney disease Renal X-LINKED: hemizygous mutation in males, biallelic mutations in females polycystic kidney disease, MONDO:0020642 39698362 False 3 100;0;0 8.8 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000165164 ENSG00000165164 HGNC:26708 CLCN5 gene CLCN5 Expert Review Green;Literature;NHS GMS Cystic kidney disease Renal X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Dent disease 1, OMIM:300009;Hypophosphatemic rickets, OMIM:300554;Nephrolithiasis, type I, OMIM:310468;Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, OMIM:308990 7922301;8559248;9259268;9187673;9602200;14569459;16041495;16247550;19673950;37641036 False 3 100;0;0 8.8 False ENSG00000171365 ENSG00000171365 HGNC:2023 COL4A1 gene COL4A1 Expert Review;Expert Review Green Cystic kidney disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Exophytic renal cysts;raised creatinine kinase;tortuous retinal vessels;intracranial anuerysms;haematuria;Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps 611773 18160688;20818663 False 3 100;0;0 8.8 False ENSG00000187498 ENSG00000187498 HGNC:2202 CYP24A1 gene CYP24A1 Expert list;Expert Review Green;NHS GMS Cystic kidney disease Renal BIALLELIC, autosomal or pseudoautosomal Hypercalcemia, infantile, 1, OMIM:143880;hypercalcemia, infantile, 1, MONDO:0020739 27105398;28324001;21675912;22337913;24235083;26214117;2712945;34307984;38504242;33249478 False 3 100;0;0 8.8 False ENSG00000019186 ENSG00000019186 HGNC:2602 DNAJB11 gene DNAJB11 Expert Review Green;Other Cystic kidney disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted cystic kidney disease;end stage renal failure;non-enlarged kidney;Polycystic kidney disease;Tubulointerstitial kidney disease 29706351 False 3 100;0;0 8.8 False ENSG00000090520 ENSG00000090520 HGNC:14889 DZIP1L gene DZIP1L Expert Review;Expert Review Green Cystic kidney disease Renal BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease 5, OMIM:617610;polycystic kidney disease 5, MONDO_0033281 28530676;35211789 False 3 100;0;0 8.8 False Other - please provide details in the comments ENSG00000158163 ENSG00000158163 HGNC:26551 FLCN gene FLCN Expert Review;Expert Review Green;Literature Cystic kidney disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Birt-Hogg-Dube syndrome, OMIM:135150;renal cysts;cutaneous fibrofolliculoma;pneumothorax;pulmonary cysts;renal cell carcinoma;renal oncocytoma 19785621;31266032 False 3 100;0;0 8.8 False ENSG00000154803 ENSG00000154803 HGNC:27310 GANAB gene GANAB Expert Review;Expert Review Green Cystic kidney disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Mild cystic kidney and liver disease;Polycyctic kidney disease 3 Porath B, Gainullin VG, Cornec-Le Gall E, Dillinger EK, Heyer CM, Hopp K, Edwards ME, Madsen CD, Mauritz SR, Banks CJ, Baheti S, Reddy B, Herrero JI, Ba ales JM, Hogan MC, Tasic V, Watnick TJ, Chapman AB, Vigneau C, Lavainne F, Audr zet MP, Ferec C, Le Meur Y, Torres VE, Genkyst Study Group, HALT Progression of Polycystic Kidney Disease Group, Consortium for Radiologic Imaging Studies of Polycystic Kidney Disease, Harris PC. Mutations in GANAB, Encoding the Glucosidase II Subunit, Cause Autosomal-Dominant Polycystic Kidney and Liver Disease. Am J Hum Genet. 2016 Jun 2;98(6):1193-207. doi: 10.1016/j.ajhg.2016.05.004. PubMed PMID: 27259053, PubMed Central PMCID: PMC4908191. False 3 100;0;0 8.8 False ENSG00000089597 ENSG00000089597 HGNC:4138 GLA gene GLA Expert;Expert Review Green;NHS GMS Cystic kidney disease Renal X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Fabry disease, OMIM:301500;Fabry disease, MONDO:0010526;Renal cyst, HP:0000107;renal parapelvic cysts 29770213;28371803;27061865;21290670;15327390;15091117 False 3 67;33;0 8.8 True ENSG00000102393 ENSG00000102393 HGNC:4296 HNF1B gene HNF1B Expert Review Green;Literature;UKGTN Cystic kidney disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Renal cysts and diabetes syndrome PMID: 11562418; 12012276; 15085338 False 3 100;0;0 8.8 True ENSG00000108753 ENSG00000275410 HGNC:11630 IFT140 gene IFT140 Expert Review Green;Literature;NHS GMS;Research Cystic kidney disease Renal BOTH monoallelic and biallelic, autosomal or pseudoautosomal Short-rib thoracic dysplasia 9 with or without polydactyly, OMIM:266920;short-rib thoracic dysplasia 9 with or without polydactyly, MONDO:0009964;cystic kidney disease, MONDO:0002473;{Polycystic kidney disease 9, susceptibility to}, OMIM:621164 22503633;23418020;34890546 False 3 100;0;0 8.8 False ENSG00000187535 ENSG00000187535 HGNC:29077 INVS gene INVS Expert;Expert Review Green Cystic kidney disease Renal BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease False 3 100;0;0 8.8 True ENSG00000119509 ENSG00000119509 HGNC:17870 MAPKBP1 gene MAPKBP1 Expert list;Expert Review Green Cystic kidney disease Renal BIALLELIC, autosomal or pseudoautosomal NEPHRONOPHTHISIS 20 28089251 False 3 100;0;0 8.8 False ENSG00000137802 ENSG00000137802 HGNC:29536 NEK8 gene NEK8 Expert;Expert Review Green;NHS GMS Cystic kidney disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 8, OMIM:620903;polycystic kidney disease, MONDO:0020642;?Nephronophthisis 9, OMIM:613824 18199800;37598857 False 3 100;0;0 8.8 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000160602 ENSG00000160602 HGNC:13387 NPHP1 gene NPHP1 Expert;Expert Review Green Cystic kidney disease Renal BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease 34415307 False 3 100;0;0 8.8 True ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Expert;Expert Review Green Cystic kidney disease Renal BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease False 3 100;0;0 8.8 True ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 Expert;Expert Review Green Cystic kidney disease Renal BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease False 3 100;0;0 8.8 True ENSG00000131697 ENSG00000131697 HGNC:19104 PAX2 gene PAX2 Expert Review Green;NHS GMS Cystic kidney disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Papillorenal syndrome, OMIM:120330;renal coloboma syndrome, MONDO:0007352 33746522;16049068;22213154;31060108 False 3 100;0;0 8.8 False ENSG00000075891 ENSG00000075891 HGNC:8616 PKD1 gene PKD1 Eligibility statement prior genetic testing;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Cystic kidney disease Renal BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Polycystic kidney disease, adult type I, 173900;Autosomal recessive polycystic kidney disease (ARPKD);Autosomal dominant polycystic kidney disease (ADPKD) 19165178;20558538;22034641;28378423;23624871 False 3 100;0;0 8.8 True ENSG00000008710 ENSG00000008710 HGNC:9008 PKD2 gene PKD2 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Cystic kidney disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic Kidney Disease, Autosomal Dominant;Polycystic kidney disease 2, 613095;Autosomal Dominant Polycystic Kidney Disease 28356211;23431072 False 3 100;0;0 8.8 True ENSG00000118762 ENSG00000118762 HGNC:9009 PKHD1 gene PKHD1 Eligibility statement prior genetic testing;Emory Genetics Laboratory;Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Cystic kidney disease Renal BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease 4 with or without hepatic disease, OMIM:263200 False 3 100;0;0 8.8 True ENSG00000170927 ENSG00000170927 HGNC:9016 PRKCSH gene PRKCSH Expert;Expert Review Green;NHS GMS Cystic kidney disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease 1 with or without kidney cysts, OMIM:174050 12529853;12577059;24886261 False 3 100;0;0 8.8 True ENSG00000130175 ENSG00000130175 HGNC:9411 SEC63 gene SEC63 Expert;Expert Review Green;NHS GMS Cystic kidney disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease 2 with or without kidney cysts, OMIM:617004 15133510;24886261 False 3 100;0;0 8.8 True ENSG00000025796 ENSG00000025796 HGNC:21082 TMEM67 gene TMEM67 Expert;Expert Review Green Cystic kidney disease Renal BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease False 3 100;0;0 8.8 True ENSG00000164953 ENSG00000164953 HGNC:28396 TSC1 gene TSC1 Expert;Expert Review Green Cystic kidney disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 9242607 False 3 100;0;0 8.8 True ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert;Expert Review Green Cystic kidney disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 3 100;0;0 8.8 True ENSG00000103197 ENSG00000103197 HGNC:12363 TTC21B gene TTC21B Expert;Expert Review Green Cystic kidney disease Renal BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease False 3 100;0;0 8.8 True ENSG00000123607 ENSG00000123607 HGNC:25660 TULP3 gene TULP3 Expert list;Expert Review Green;NHS GMS Cystic kidney disease Renal BIALLELIC, autosomal or pseudoautosomal Hepatorenocardiac degenerative fibrosis, OMIM:619902 30799239;30799240;35397207;36276950;36460032 False 3 100;0;0 8.8 False ENSG00000078246 ENSG00000078246 HGNC:12425 UMOD gene UMOD Emory Genetics Laboratory;Expert;Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Cystic kidney disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Medullary Cystic Kidney Disease 2;Hyperuricemic nephropathy, familial juvenile 1, 162000 False 3 100;0;0 8.8 True ENSG00000169344 ENSG00000169344 HGNC:12559 VHL gene VHL Expert;Expert Review Green Cystic kidney disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 3 100;0;0 8.8 True ENSG00000134086 ENSG00000134086 HGNC:12687 WDR19 gene WDR19 Expert;Expert Review Green Cystic kidney disease Renal BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Nephronophthisis 13, Senior-Loken 24504730, 25726036, 23683095, 22019273 False 3 100;0;0 8.8 True ENSG00000157796 ENSG00000157796 HGNC:18340 XPNPEP3 gene XPNPEP3 Expert;Expert Review Green;NHS GMS Cystic kidney disease Renal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1 OMIM:613159;nephronophthisis-like nephropathy 1 MONDO:0013163 20179356;32660933 False 3 67;0;33 8.8 True ENSG00000196236 ENSG00000196236 HGNC:28052 ISCA-37405-Loss region Expert Review Green;ClinGen Cystic kidney disease Renal BIALLELIC, autosomal or pseudoautosomal juvenile nephronophthisis 1: including growth retardation. Joubert syndrome: multisystem disease characterized by cerebellar vermis hypoplasia with prominent superior cerebellar peduncles (resulting in the 'molar tooth sign,' or MTS, on axial MRI), mental retardation, hypotonia, irregular breathing pattern, and eye movement abnormalities;266900;609583 9856524;15138899;8852662 False 3 0;0;0 8.8 False 2 110104531 110228181 30 60 cnv_loss 2q13 recurrent region (includes NPHP1) Loss ISCA-37432-Loss region Expert Review Green;ClinGen Cystic kidney disease Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown RCAD syndrome;utero-vaginal atresia;Schizophrenia;614527;delayed development, intellectual disability;Renal cysts and diabetes syndrome;Autism Spectrum Disorder;Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females;Chromosome 17q12 deletion syndrome;global developmental delay False 3 0;0;0 8.8 False 17 36458167 37854616 3 60 cnv_loss 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss