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 ANKS6 gene ANKS6 Expert Review Green;NHS GMS Tubulointerstitial kidney disease Renal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 16, OMIM:615382;nephronophthisis 16, MONDO:0014158 2379302 False 3 100;0;0 3.32 False ENSG00000165138 ENSG00000165138 HGNC:26724 CEP164 gene CEP164 Expert Review Green;NHS GMS Tubulointerstitial kidney disease Renal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 15, OMIM:614845;nephronophthisis 15, MONDO:0013917 False 3 100;0;0 3.32 False ENSG00000110274 ENSG00000110274 HGNC:29182 CEP83 gene CEP83 Expert Review Green;NHS GMS Tubulointerstitial kidney disease Renal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 18, OMIM:615862;nephronophthisis 18, MONDO:0014374 False 3 100;0;0 3.32 False ENSG00000173588 ENSG00000173588 HGNC:17966 DNAJB11 gene DNAJB11 Expert Review Green;NHS GMS Tubulointerstitial kidney disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic kidney disease 6 with or without polycystic liver disease, OMIM:618061;Tubulointerstitial disease 29706351;29777155 False 3 50;50;0 3.32 False ENSG00000090520 ENSG00000090520 HGNC:14889 GATM gene GATM Expert Review Green;NHS GMS Tubulointerstitial kidney disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fanconi renotubular syndrome 1, OMIM:134600;Fanconi renotubular syndrome 1, MONDO:0024525 29654216 False 3 100;0;0 3.32 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype -please provide details in the comments ENSG00000171766 ENSG00000171766 HGNC:4175 HNF1B gene HNF1B Expert Review Green;NHS GMS Tubulointerstitial kidney disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cysts and diabetes syndrome MIM 137920;NIDDM MIM 125853 15930087 False 3 100;0;0 3.32 False ENSG00000108753 ENSG00000275410 HGNC:11630 INVS gene INVS Expert Review Green;NHS GMS Tubulointerstitial kidney disease Renal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 2, infantile, OMIM:602088;nephronophthisis 2, MONDO:0011190 False 3 100;0;0 3.32 False ENSG00000119509 ENSG00000119509 HGNC:17870 MAPKBP1 gene MAPKBP1 Expert Review Green;NHS GMS Tubulointerstitial kidney disease Renal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 20, OMIM:617271;nephronophthisis 20, MONDO:0014997 28089251 False 3 100;0;0 3.32 False ENSG00000137802 ENSG00000137802 HGNC:29536 MT-TF gene MT-TF Expert Review Green;Literature Tubulointerstitial kidney disease Renal MITOCHONDRIAL Tubulointerstitial kidney disease;tubulointerstitial nephritis;renal insufficiency;renal failure 28267784;11231339;20142618;23135609 False 3 100;0;0 3.32 False ENSG00000210049 ENSG00000210049 HGNC:7481 MUC1 gene MUC1 Expert Review Green;NHS GMS Tubulointerstitial kidney disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Medullary cystic kidney disease 1 MIM 174000 23396133;29967284;29156055;29520014;23946964 False 3 100;0;0 3.32 False Other - please provide details in the comments ENSG00000185499 ENSG00000185499 HGNC:7508 NPHP1 gene NPHP1 Expert Review Green;NHS GMS Tubulointerstitial kidney disease Renal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 1, juvenile, OMIM:256100;nephronophthisis 1, MONDO:0009728;Senior-Loken syndrome-1, OMIM:266900;Senior-Loken syndrome 1, MONDO:0009962;Joubert syndrome 4, OMIM:609583;Joubert syndrome with renal defect, MONDO:0012308 34415307 False 3 100;0;0 3.32 False ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Expert Review Green;NHS GMS Tubulointerstitial kidney disease Renal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 3, OMIM:604387;nephronophthisis 3, MONDO:0011456;Renal-hepatic-pancreatic dysplasia 1, OMIM:208540;renal-hepatic-pancreatic dysplasia 1, MONDO:0008833;Meckel syndrome 7, OMIM:267010;NPHP3-related Meckel-like syndrome, MONDO:0009966 False 3 100;0;0 3.32 False ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 Expert Review Green;NHS GMS Tubulointerstitial kidney disease Renal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 4, OMIM:606966;nephronophthisis 4, MONDO:0011752;Senior-Loken syndrome 4, OMIM:606996;Senior-Loken syndrome 4, MONDO:0011756 12244321;12205563 False 3 100;0;0 3.32 False ENSG00000131697 ENSG00000131697 HGNC:19104 REN gene REN Expert Review Green;NHS GMS Tubulointerstitial kidney disease Renal BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Renal tubular dysgenesis MIM 267430;Familial juvenile Hyperuricemic nephropathy-2 MIM 613092 16116425;19664745 False 3 100;0;0 3.32 False ENSG00000143839 ENSG00000143839 HGNC:9958 SEC61A1 gene SEC61A1 Expert Review Green;NHS GMS Tubulointerstitial kidney disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial juvenile Hyperuricemic nephropathy-4 , OMIM:617056 27392076;30586318 False 3 100;0;0 3.32 False ENSG00000058262 ENSG00000058262 HGNC:18276 TMEM67 gene TMEM67 Expert Review Green;NHS GMS Tubulointerstitial kidney disease Renal BIALLELIC, autosomal or pseudoautosomal ?RHYNS syndrome MIM 602152;COACH syndrome 216360 AR 3;{Bardet-Biedl syndrome 14, modifier of} MIM 615991;?RHYNS syndrome 602152 AR 3;COACH syndrome, MIM 216306;Joubert syndrome 6, MIM 610688;Nephronophthisis 11 MIM 613550;Meckel syndrome 3, MIM 607361 False 3 100;0;0 3.32 False ENSG00000164953 ENSG00000164953 HGNC:28396 TTC21B gene TTC21B Expert Review Green;NHS GMS Tubulointerstitial kidney disease Renal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 12, OMIM:613820 21258341;26940125;34957165;34805047;35289079 False 3 100;0;0 3.32 False ENSG00000123607 ENSG00000123607 HGNC:25660 UMOD gene UMOD Expert Review Green;NHS GMS Tubulointerstitial kidney disease Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Medullary cystic kidney disease 2 MIM 603860;Familial juvenile hyperuricemic nephropathy 1 MIM 162000 12471200;14569098 False 3 100;0;0 3.32 False Other - please provide details in the comments ENSG00000169344 ENSG00000169344 HGNC:12559 WDR19 gene WDR19 Expert Review Green;NHS GMS Tubulointerstitial kidney disease Renal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 13 MIM 614377;?Cranioectodermal dysplasia 4, MIM 614378;?Short-rib thoracic dysplasia 5 with or without polydactyly, MIM 614376;Senior-Loken syndrome 8, MIM 616307 False 3 100;0;0 3.32 False ENSG00000157796 ENSG00000157796 HGNC:18340 XPNPEP3 gene XPNPEP3 Expert Review Green;NHS GMS Tubulointerstitial kidney disease Renal BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1 OMIM:613159;nephronophthisis-like nephropathy 1 MONDO:0013163 20179356;32660933 False 3 50;50;0 3.32 False ENSG00000196236 ENSG00000196236 HGNC:28052