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 ABCG2 gene ABCG2 NHS GMS Renal superpanel - broad Renal and urinary tract disorders Unknown Serum uric acid concentration and susceptibility to gout, 138900 False 1 0;0;100 29.40 False ENSG00000118777 ENSG00000118777 HGNC:74 ACTA2 gene ACTA2 Expert Review Red;Expert Review Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multi system smooth muscle dysfunction False 1 0;0;0 29.40 False ENSG00000107796 ENSG00000107796 HGNC:130 ACTA2 gene ACTA2 Expert Review Red;Expert Review Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multi system smooth muscle dysfunction False 1 100;0;0 29.40 False ENSG00000107796 ENSG00000107796 HGNC:130 ADCY10 gene ADCY10 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PMID: 24907563 (review) False 1 50;0;50 29.40 True ENSG00000143199 ENSG00000143199 HGNC:21285 AGK gene AGK Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders Hyperoxaluria, primary, type 1, 259900 False 1 0;0;100 29.40 True ENSG00000006530 ENSG00000006530 HGNC:21869 AGT gene AGT Expert Review Red;UKGTN;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders Unknown {Hypertension, essential, susceptibility to}, 145500;{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430 24452034 False 1 0;0;0 29.40 False ENSG00000135744 ENSG00000135744 HGNC:333 AGTR1 gene AGTR1 Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypertension, essential, 145500;Renal tubular dysgenesis, 267430 8021009;16116425;23942655;25603901 False 1 100;0;0 29.40 False ENSG00000144891 ENSG00000144891 HGNC:336 AHI1 gene AHI1 Expert;Expert Review Red Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease; Joubert syndrome-3 608629 False 1 0;0;0 29.40 False ENSG00000135541 ENSG00000135541 HGNC:21575 AHI1 gene AHI1 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 29.40 True ENSG00000135541 ENSG00000135541 HGNC:21575 ALG1 gene ALG1 NHS GMS;Expert Review Red;Eligibility statement prior genetic testing Renal superpanel - broad Renal and urinary tract disorders Congenital disorder of glycosylation, type Ik #608540 27325525 False 1 0;100;0 29.40 True ENSG00000033011 ENSG00000033011 HGNC:18294 ALG1 gene ALG1 Eligibility statement prior genetic testing Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;0 29.40 False ENSG00000033011 ENSG00000033011 HGNC:18294 ALMS1 gene ALMS1 NHS GMS;Expert Review Red;Eligibility statement prior genetic testing Renal superpanel - broad Renal and urinary tract disorders Alstrom Syndrome #203800 25846608 False 1 0;100;0 29.40 True ENSG00000116127 ENSG00000116127 HGNC:428 ALMS1 gene ALMS1 Eligibility statement prior genetic testing Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;0 29.40 False ENSG00000116127 ENSG00000116127 HGNC:428 ANKFY1 gene ANKFY1 NHS GMS Renal superpanel - broad Renal and urinary tract disorders 29959197 False 1 0;0;100 29.40 False ENSG00000185722 ENSG00000185722 HGNC:20763 ANOS1 gene ANOS1 Expert Review Red;Radboud University Medical Center, Nijmegen;Expert Review Renal superpanel - broad Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) 308700" 11531922;9719154 False 1 0;0;100 29.40 False ENSG00000011201 ENSG00000011201 HGNC:6211 AP2S1 gene AP2S1 Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypocalciuric hypercalcemia, familial, type III, 600740;Familial hypocalciuric hypercalcemia type III False 1 0;0;100 29.40 True ENSG00000042753 ENSG00000042753 HGNC:565 APOL1 gene APOL1 Eligibility statement prior genetic testing Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;0 29.40 False ENSG00000100342 ENSG00000100342 HGNC:618 ARHGAP24 gene ARHGAP24 NHS GMS;Expert Review Red;Eligibility statement prior genetic testing Renal superpanel - broad Renal and urinary tract disorders Focal segmental glomerulosclerosis 21911940 False 1 0;50;50 29.40 True ENSG00000138639 ENSG00000138639 HGNC:25361 ARHGAP24 gene ARHGAP24 Eligibility statement prior genetic testing Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;0 29.40 False ENSG00000138639 ENSG00000138639 HGNC:25361 ARL13B gene ARL13B Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;100 29.40 True ENSG00000169379 ENSG00000169379 HGNC:25419 ARL13B gene ARL13B Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000169379 ENSG00000169379 HGNC:25419 ARL6 gene ARL6 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000113966 ENSG00000113966 HGNC:13210 ARL6 gene ARL6 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 29.40 True ENSG00000113966 ENSG00000113966 HGNC:13210 ARMC9 gene ARMC9 Expert Review Red;Literature Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30, OMIM:617622 28625504 False 1 50;0;50 29.40 False ENSG00000135931 ENSG00000135931 HGNC:20730 B9D1 gene B9D1 Illumina TruGenome Clinical Sequencing Services;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Expert Review Red;Emory Genetics Laboratory Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 9, OMIM:614209;Meckel syndrome 9, MONDO:0013630;Joubert syndrome 27, OMIM:617120;Joubert syndrome 27, MONDO:0014927 21493627 (case report, with an additional variant in the CEP290 gene suggesting oligogenetic inheritance);24886560 (2 cases with Joubert);25920555 (report a case with heterozygous mutations in CC2D2A and B9D1) False 1 0;0;100 29.40 False ENSG00000108641 ENSG00000108641 HGNC:24123 BBS1 gene BBS1 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 29.40 True ENSG00000174483 ENSG00000174483 HGNC:966 BBS1 gene BBS1 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000179941 ENSG00000179941 HGNC:26291 BBS10 gene BBS10 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 29.40 True ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 29.40 True ENSG00000181004 ENSG00000181004 HGNC:26648 BBS12 gene BBS12 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 29.40 True ENSG00000125124 ENSG00000125124 HGNC:967 BBS2 gene BBS2 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 29.40 True ENSG00000140463 ENSG00000140463 HGNC:969 BBS4 gene BBS4 Expert;Expert Review Red Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000163093 ENSG00000163093 HGNC:970 BBS5 gene BBS5 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 29.40 True ENSG00000163093 ENSG00000163093 HGNC:970 BBS9 gene BBS9 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000122507 ENSG00000122507 HGNC:30000 BBS9 gene BBS9 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 29.40 True ENSG00000122507 ENSG00000122507 HGNC:30000 BICC1 gene BICC1 Radboud University Medical Center, Nijmegen;Expert Review Red Renal superpanel - broad Renal and urinary tract disorders {Renal dysplasia, cystic, susceptibility to}, 601331 False 1 0;0;0 29.40 False ENSG00000122870 ENSG00000122870 HGNC:19351 BICC1 gene BICC1 Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders {Renal dysplasia, cystic, susceptibility to}, 601331 False 1 0;0;100 29.40 True ENSG00000122870 ENSG00000122870 HGNC:19351 BMP4 gene BMP4 Expert Review Red;Expert list Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;0 29.40 False ENSG00000125378 ENSG00000125378 HGNC:1071 BMP7 gene BMP7 Expert Review Red;Expert list Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT 24429398;7590254 False 1 0;0;100 29.40 False ENSG00000101144 ENSG00000101144 HGNC:1074 BMPR2 gene BMPR2 Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary hypertension, familial primary, 1, with or without HHT, 178600, Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated, 178600, Pulmonary venoocclusive disease 1, 265450 False 1 0;0;100 29.40 False ENSG00000204217 ENSG00000204217 HGNC:1078 BSND gene BSND Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 4a, 602522;Sensorineural deafness with mild renal dysfunction, 602522 False 1 50;0;50 29.40 True ENSG00000162399 ENSG00000162399 HGNC:16512 BSND gene BSND Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 4a, 602522;Sensorineural deafness with mild renal dysfunction, 602522 False 1 0;0;0 29.40 False ENSG00000162399 ENSG00000162399 HGNC:16512 C5orf42 gene C5orf42 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 29.40 True ENSG00000197603 ENSG00000197603 HGNC:25801 C5orf42 gene C5orf42 Expert;Expert Review Red Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000197603 ENSG00000197603 HGNC:25801 C8orf37 gene C8orf37 Expert Review Red;Other Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 21, 617406 26854863;27008867 False 1 0;0;0 29.40 False ENSG00000156172 ENSG00000156172 HGNC:27232 CAV1 gene CAV1 Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lipodystrophy, congenital generalized, type 3, 612526;Pulmonary hypertension, primary, 3, 615343 False 1 0;0;100 29.40 False ENSG00000105974 ENSG00000105974 HGNC:1527 CC2D2A gene CC2D2A Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 29.40 True ENSG00000048342 ENSG00000048342 HGNC:29253 CC2D2A gene CC2D2A Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000048342 ENSG00000048342 HGNC:29253 CCDC28B gene CCDC28B UKGTN;Expert Review Red;Expert list;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal ciliopathies;{Bardet-Biedl syndrome 1, modifier of}, 209900 23015189 False 1 0;100;0 29.40 False ENSG00000160050 ENSG00000160050 HGNC:28163 CCDC28B gene CCDC28B Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000160050 ENSG00000160050 HGNC:28163 CCDC28B gene CCDC28B Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;100;0 29.40 True ENSG00000160050 ENSG00000160050 HGNC:28163 CD2AP gene CD2AP Eligibility statement prior genetic testing Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;0 29.40 False ENSG00000198087 ENSG00000198087 HGNC:14258 CD46 gene CD46 Expert Review Red;Expert list Renal superpanel - broad Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Haemolytic uraemic syndrome; aHUS; Hemolytic uremic syndrome, atypical, susceptibility to, 2, 612922; C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN 24172683;22456601;14615110; 21902819 False 1 50;0;50 29.40 False ENSG00000117335 ENSG00000117335 HGNC:6953 CDK20 gene CDK20 NHS GMS Renal superpanel - broad Renal and urinary tract disorders Chronic kidney disease 29773874 False 1 0;0;100 29.40 False ENSG00000156345 ENSG00000156345 HGNC:21420 CEP290 gene CEP290 Expert;Expert Review Red Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP41 gene CEP41 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 29.40 True ENSG00000106477 ENSG00000106477 HGNC:12370 CEP41 gene CEP41 Expert;Expert Review Red Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000106477 ENSG00000106477 HGNC:12370 CFHR4 gene CFHR4 Other Renal superpanel - broad Renal and urinary tract disorders Unknown Age related macular degeneration;Atypical hemolytic uremic syndrome susceptibility 19861685;23830046;28822440 False 1 0;0;100 29.40 False ENSG00000134365 ENSG00000134365 HGNC:16979 CHD1L gene CHD1L Expert Review Red;Other Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Renal or urinary tract malformation (CAKUT);ORPHA93545 24429398;22146311;32164334 False 1 0;0;100 29.40 False ENSG00000131778 ENSG00000131778 HGNC:1916 CLCNKA gene CLCNKA Expert Review Red;NHS GMS Renal superpanel - broad Renal and urinary tract disorders Other Bartter syndrome, type 4b, digenic, OMIM:613090;Bartter disease type 4B, MONDO:0000909 15044642;18310267;32488762 False 1 0;100;0 29.40 False ENSG00000186510 ENSG00000186510 HGNC:2026 CLCNKA gene CLCNKA Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders Other Bartter syndrome, type 4b, digenic, OMIM:613090;Bartter disease type 4B, MONDO:0000909 15044642;18310267;32488762 False 1 0;0;100 29.40 True ENSG00000186510 ENSG00000186510 HGNC:2026 COL4A1 gene COL4A1 NHS GMS Renal superpanel - broad Renal and urinary tract disorders Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps #611773 27190376 False 1 0;0;100 29.40 False ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A5 gene COL4A5 Expert Review Red;Other Renal superpanel - broad 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) cystic kidney disease MONDO:0002473 31922066;38680391 False 1 50;50;0 29.40 False ENSG00000188153 ENSG00000188153 HGNC:2207 COL4A6 gene COL4A6 NHS GMS;Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5; Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4);diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4); (originally on Alport syndrome gene panel) False 1 0;100;0 29.40 True ENSG00000197565 ENSG00000197565 HGNC:2208 COL4A6 gene COL4A6 Radboud University Medical Center, Nijmegen;Expert Review Red Renal superpanel - broad Renal and urinary tract disorders diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5; Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4);diffuse leiomyomatosis with Alport syndrome = contiguous gene with COL4A5 Leiomyomatosis, diffuse, with Alport syndrome, 308940 (4); (originally on Alport syndrome gene panel) False 1 0;0;0 29.40 False ENSG00000197565 ENSG00000197565 HGNC:2208 COQ7 gene COQ7 NHS GMS Renal superpanel - broad Renal and urinary tract disorders ?Coenzyme Q10 deficiency, primary, 8 #616733 26084283 False 1 0;0;100 29.40 False ENSG00000167186 ENSG00000167186 HGNC:2244 COQ9 gene COQ9 NHS GMS Renal superpanel - broad Renal and urinary tract disorders Coenzyme Q10 deficiency, primary, 5 #614654 19375058 False 1 0;0;100 29.40 False ENSG00000088682 ENSG00000088682 HGNC:25302 COX10 gene COX10 Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046;Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency False 1 0;0;100 29.40 True ENSG00000006695 ENSG00000006695 HGNC:2260 COX10 gene COX10 Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046;Encephalopathy, progressive mitochondrial, with proximal renal tubulopathy due tocytochrome c oxidase deficiency False 1 0;0;0 29.40 False ENSG00000006695 ENSG00000006695 HGNC:2260 CPS1 gene CPS1 Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Carbamoylphosphate synthetase I deficiency, 237300;{Pulmonary hypertension, neonatal, susceptibility to}, 615371;{Venoocclusive disease after bone marrow transplantation} False 1 0;0;0 29.40 False ENSG00000021826 ENSG00000021826 HGNC:2323 CYP11B2 gene CYP11B2 Eligibility statement prior genetic testing Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;0 29.40 False ENSG00000179142 ENSG00000179142 HGNC:2592 CYP11B2 gene CYP11B2 NHS GMS;Expert Review Red;Eligibility statement prior genetic testing Renal superpanel - broad Renal and urinary tract disorders Hypoaldosteronism, congenital, due to CMO I deficiency #203400;Hypoaldosteronism, congenital, due to CMO II deficiency #610600 9814506;24022297 False 1 0;50;50 29.40 True ENSG00000179142 ENSG00000179142 HGNC:2592 CYP21A2 gene CYP21A2 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency 201910;Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency 201910" False 1 0;0;100 29.40 False ENSG00000231852 ENSG00000231852 HGNC:2600 DACT1 gene DACT1 Other;Literature Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Townes-Brocks syndrome 2,617466;TBS2 28054444;22610794;19701191 False 1 0;0;100 29.40 False ENSG00000165617 ENSG00000165617 HGNC:17748 DACT1 gene DACT1 Literature;Other Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown ?Townes-Brocks syndrome 2,617466; TBS2 28054444;22610794;19701191 False 1 0;0;100 29.40 False ENSG00000165617 ENSG00000165617 HGNC:17748 DHFR gene DHFR Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; (originally on the Imerslund-Grasbeck syndrome gene panel) False 1 0;0;0 29.40 False ENSG00000228716 ENSG00000228716 HGNC:2861 DHFR gene DHFR NHS GMS;Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders Megaloblastic anemia due to dihydrofolate reductase deficiency, 613839; (originally on the Imerslund-Grasbeck syndrome gene panel) False 1 0;0;100 29.40 True ENSG00000228716 ENSG00000228716 HGNC:2861 DKC1 gene DKC1 Expert Review Red;Literature Renal superpanel - broad Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females steroid-resistant 6 nephrotic syndrome;cataracts (prior to steroid treatment);sensorineural deafness;enterocolitis 32554502 False 1 0;0;100 29.40 False ENSG00000130826 ENSG00000130826 HGNC:2890 DLG3 gene DLG3 Expert Review Red;Expert list Renal superpanel - broad Renal and urinary tract disorders False 1 0;100;0 29.40 True ENSG00000082458 ENSG00000082458 HGNC:2902 DLG3 gene DLG3 Expert list;Expert Review Red Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;0 29.40 False ENSG00000082458 ENSG00000082458 HGNC:2902 E2F3 gene E2F3 NHS GMS;Expert Review Red;Eligibility statement prior genetic testing Renal superpanel - broad Renal and urinary tract disorders FSGS;mental retardation 21372519 False 1 0;0;100 29.40 True ENSG00000112242 ENSG00000112242 HGNC:3115 E2F3 gene E2F3 Eligibility statement prior genetic testing Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;0 29.40 False ENSG00000112242 ENSG00000112242 HGNC:3115 EGF gene EGF NHS GMS Renal superpanel - broad Renal and urinary tract disorders Hypomagnesemia 4, renal, 611718 17671655 False 1 0;0;100 29.40 False ENSG00000138798 ENSG00000138798 HGNC:3229 EXOC3L2 gene EXOC3L2 Expert Review Red;Expert list;Expert Review Red;Expert list Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Brain malformation renal syndrome, OMIM:620943 28749478;27894351 False 1 0;0;100 29.40 False ENSG00000130201 ENSG00000283632 HGNC:30162 EXOC8 gene EXOC8 Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders No OMIM phenotype;Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78) 22700954 False 1 0;0;100 29.40 False ENSG00000116903 ENSG00000116903 HGNC:24659 FGF23 gene FGF23 Expert list Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 100;0;0 29.40 False ENSG00000118972 ENSG00000118972 HGNC:3680 FOXC1 gene FOXC1 Expert Review Red;Expert list Renal superpanel - broad Renal and urinary tract disorders False 1 0;50;50 29.40 True ENSG00000054598 ENSG00000054598 HGNC:3800 FOXC1 gene FOXC1 Expert Review Red;Expert list Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;0 29.40 False ENSG00000054598 ENSG00000054598 HGNC:3800 FOXC2 gene FOXC2 Expert Review Red;Expert list Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;0 29.40 False ENSG00000176692 ENSG00000176692 HGNC:3801 FOXC2 gene FOXC2 Expert Review Red;Expert list Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;100 29.40 True ENSG00000176692 ENSG00000176692 HGNC:3801 FOXD2 gene FOXD2 Other Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 29.40 False ENSG00000186564 ENSG00000186564 HGNC:3803 GAPVD1 gene GAPVD1 NHS GMS Renal superpanel - broad Renal and urinary tract disorders 29959197 False 1 0;100;0 29.40 False ENSG00000165219 ENSG00000165219 HGNC:23375 GDNF gene GDNF Expert Review Red;Expert list Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;100 29.40 True ENSG00000168621 ENSG00000168621 HGNC:4232 GDNF gene GDNF Expert Review Red;Expert list Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;0 29.40 False ENSG00000168621 ENSG00000168621 HGNC:4232 GIF gene GIF Imerslund-Grasbeck syndrome eligibility statement prior genetic testing Renal superpanel - broad Renal and urinary tract disorders GIF mutations may phenocopy this disorder; (originally on the Imerslund-Grasbeck syndrome gene panel) False 1 0;0;0 29.40 False ENSG00000134812 ENSG00000134812 HGNC:4268 GIF gene GIF NHS GMS;Expert Review Red;Imerslund-Grasbeck syndrome eligibility statement prior genetic testing Renal superpanel - broad Renal and urinary tract disorders GIF mutations may phenocopy this disorder; (originally on the Imerslund-Grasbeck syndrome gene panel) False 1 0;0;100 29.40 True ENSG00000134812 ENSG00000134812 HGNC:4268 GLIS2 gene GLIS2 Expert;Expert Review Red Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000126603 ENSG00000126603 HGNC:29450 GLIS2 gene GLIS2 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 29.40 True ENSG00000126603 ENSG00000126603 HGNC:29450 GNA11 gene GNA11 Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders Hypocalciuric hypercalcemia, type II, 145981 False 1 0;0;100 29.40 False ENSG00000088256 ENSG00000088256 HGNC:4379 GREM1 gene GREM1 Expert Review Red;Expert list Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;100 29.40 True ENSG00000166923 ENSG00000166923 HGNC:2001 GREM1 gene GREM1 Expert Review Red;Expert list Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;0 29.40 False ENSG00000166923 ENSG00000166923 HGNC:2001 HCN3 gene HCN3 Expert Review Red;Expert list Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;0 29.40 False ENSG00000143630 ENSG00000143630 HGNC:19183 HCN3 gene HCN3 Expert Review Red;Expert list Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;100 29.40 True ENSG00000143630 ENSG00000143630 HGNC:19183 IFT74 gene IFT74 Expert Review Red;Other Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 20, 617119 27486776 False 1 0;0;100 29.40 False ENSG00000096872 ENSG00000096872 HGNC:21424 IL1RAP gene IL1RAP Expert Review Red;Literature Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Steroid-sensitive nephrotic syndrome 31954058 False 1 0;0;100 29.40 False ENSG00000196083 ENSG00000196083 HGNC:5995 INF2 gene INF2 NHS GMS Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, dominant intermediate E, 614455;Glomerulosclerosis, focal segmental, 5, 613237 27974406 False 1 0;50;50 29.40 False ENSG00000203485 ENSG00000203485 HGNC:23791 INPP5E gene INPP5E Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000148384 ENSG00000148384 HGNC:21474 INPP5E gene INPP5E Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 29.40 True ENSG00000148384 ENSG00000148384 HGNC:21474 IQCB1 gene IQCB1 Expert;Expert Review Red Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000173226 ENSG00000173226 HGNC:28949 IQCB1 gene IQCB1 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 29.40 True ENSG00000173226 ENSG00000173226 HGNC:28949 ISL1 gene ISL1 Literature Renal superpanel - broad Renal and urinary tract disorders Unknown CAKUT 23641053 False 1 0;0;100 29.40 False ENSG00000016082 ENSG00000016082 HGNC:6132 ITGB4 gene ITGB4 Eligibility statement prior genetic testing Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;0 29.40 False ENSG00000132470 ENSG00000132470 HGNC:6158 ITGB4 gene ITGB4 NHS GMS;Expert Review Red;Eligibility statement prior genetic testing Renal superpanel - broad Renal and urinary tract disorders Epidermolysis bullosa, junctional, with pyloric stenosis #226730 11328943 False 1 0;100;0 29.40 True ENSG00000132470 ENSG00000132470 HGNC:6158 ITSN2 gene ITSN2 NHS GMS Renal superpanel - broad Renal and urinary tract disorders Early childhood SSNS 29773874 False 1 0;100;0 29.40 False ENSG00000198399 ENSG00000198399 HGNC:6184 KANK1 gene KANK1 NHS GMS Renal superpanel - broad Renal and urinary tract disorders Steroid sensitive resistant nephrotic syndrome 25961457 False 1 0;0;100 29.40 False ENSG00000107104 ENSG00000107104 HGNC:19309 KANK2 gene KANK2 Literature;Expert Review Red Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome J Clin Invest. 2015;125(6):2375 2384 False 1 0;0;0 29.40 False ENSG00000197256 ENSG00000197256 HGNC:29300 KANK4 gene KANK4 NHS GMS Renal superpanel - broad Renal and urinary tract disorders 25961457 False 1 0;0;100 29.40 False ENSG00000132854 ENSG00000132854 HGNC:27263 KCNA1 gene KCNA1 NHS GMS Renal superpanel - broad Renal and urinary tract disorders Autosomal dominant hypomagnesemia;Episodic ataxia/myokymia syndrome,160120 19307729 False 1 0;0;100 29.40 False ENSG00000111262 ENSG00000111262 HGNC:6218 KCNK3 gene KCNK3 Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pulmonary hypertension, primary, 4, 615344 False 1 0;0;100 29.40 False ENSG00000171303 ENSG00000171303 HGNC:6278 KIAA0556 gene KIAA0556 Expert Review Red;Other Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 26, OMIM:616784;Joubert syndrome 26, MONDO:0014771 29765138;27245168;26714646 False 1 0;0;0 29.40 False ENSG00000047578 ENSG00000047578 HGNC:29068 KIF7 gene KIF7 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;100 29.40 True ENSG00000166813 ENSG00000166813 HGNC:30497 KIF7 gene KIF7 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000166813 ENSG00000166813 HGNC:30497 KIT gene KIT Expert Review Red;Expert list Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;0 29.40 False ENSG00000157404 ENSG00000157404 HGNC:6342 KIT gene KIT Expert Review Red;Expert list Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;100 29.40 True ENSG00000157404 ENSG00000157404 HGNC:6342 LMNA gene LMNA NHS GMS Renal superpanel - broad Renal and urinary tract disorders Partial lipodystrophy and FSGS 24080738;28620495 False 1 0;100;0 29.40 False ENSG00000160789 ENSG00000160789 HGNC:6636 MAFB gene MAFB NHS GMS Renal superpanel - broad Renal and urinary tract disorders FSGS with Duane retraction syndrome 29779709;22387013 False 1 0;100;0 29.40 False ENSG00000204103 ENSG00000204103 HGNC:6408 MED28 gene MED28 NHS GMS Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;100 29.40 False ENSG00000118579 ENSG00000118579 HGNC:24628 MEFV gene MEFV NHS GMS Renal superpanel - broad Renal and urinary tract disorders Familial Mediterranean fever, AD, OMIM:134610;Familial Mediterranean fever, AR, OMIM:249100 False 1 0;100;0 29.40 False ENSG00000103313 ENSG00000103313 HGNC:6998 MKS1 gene MKS1 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 29.40 True ENSG00000011143 ENSG00000011143 HGNC:7121 MKS1 gene MKS1 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000011143 ENSG00000011143 HGNC:7121 MTR gene MTR NHS GMS;Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders Homocystinuria-megaloblastic anemia, cblG complementation type, 250940;{Neural tube defects, folate-sensitive, susceptibility to}, 601634;(originally on the Imerslund-Grasbeck syndrome gene panel) False 1 0;50;50 29.40 True ENSG00000116984 ENSG00000116984 HGNC:7468 MTR gene MTR Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders Homocystinuria-megaloblastic anemia, cblG complementation type, 250940;{Neural tube defects, folate-sensitive, susceptibility to}, 601634;(originally on the Imerslund-Grasbeck syndrome gene panel) False 1 0;0;0 29.40 False ENSG00000116984 ENSG00000116984 HGNC:7468 MTRR gene MTRR Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders Homocystinuria-megaloblastic anemia, cbl E type, 236270; (originally on the Imerslund-Grasbeck syndrome gene panel) False 1 0;0;0 29.40 False ENSG00000124275 ENSG00000124275 HGNC:7473 MTRR gene MTRR NHS GMS;Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders Homocystinuria-megaloblastic anemia, cbl E type, 236270; (originally on the Imerslund-Grasbeck syndrome gene panel) False 1 0;50;50 29.40 True ENSG00000124275 ENSG00000124275 HGNC:7473 MUC1 gene MUC1 Expert Review Red;Expert;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Medullary cystic kidney disease 1, 174000 False 1 100;0;0 29.40 True ENSG00000185499 ENSG00000185499 HGNC:7508 MUC1 gene MUC1 Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders Medullary cystic kidney disease 1, 174000 False 1 100;0;0 29.40 False ENSG00000185499 ENSG00000185499 HGNC:7508 MUC1 gene MUC1 Expert Review Red;Expert list;UKGTN Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel False 1 0;0;0 29.40 False ENSG00000185499 ENSG00000185499 HGNC:7508 MYH11 gene MYH11 Expert Review;Expert Review Red Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Megacystis-microcolon-intestinal hypoperistalsis syndrome False 1 0;0;0 29.40 False ENSG00000133392 ENSG00000133392 HGNC:7569 MYH11 gene MYH11 Expert Review Red;Expert Review Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Megacystis-microcolon-intestinal hypoperistalsis syndrome False 1 0;0;100 29.40 True ENSG00000133392 ENSG00000133392 HGNC:7569 NEIL1 gene NEIL1 NHS GMS Renal superpanel - broad Renal and urinary tract disorders SRNS 21697813 False 1 0;0;100 29.40 False ENSG00000140398 ENSG00000140398 HGNC:18448 NEK8 gene NEK8 Expert Review Red;NHS GMS Renal superpanel - broad Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Nephronophthisis 9 MIM 613824 False 1 0;0;100 29.40 False ENSG00000160602 ENSG00000160602 HGNC:13387 NEK8 gene NEK8 Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal ?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415 False 1 0;0;100 29.40 True ENSG00000160602 ENSG00000160602 HGNC:13387 NEK8 gene NEK8 Radboud University Medical Center, Nijmegen;Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415 False 1 0;0;0 29.40 False ENSG00000160602 ENSG00000160602 HGNC:13387 NEU1 gene NEU1 NHS GMS Renal superpanel - broad Renal and urinary tract disorders SRNS 30450471 False 1 0;0;100 29.40 False ENSG00000204386 ENSG00000204386 HGNC:7758 NLRP3 gene NLRP3 NHS GMS Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Muckle-Wells syndrome, OMIM:191900;Renal amyloidosis 30431487 False 1 0;0;100 29.40 False ENSG00000162711 ENSG00000162711 HGNC:16400 NOP10 gene NOP10 Expert Review Red;Literature Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal steroid-resistant 6 nephrotic syndrome;cataracts (prior to steroid treatment);sensorineural deafness;enterocolitis 32554502 False 1 0;0;100 29.40 False ENSG00000182117 ENSG00000182117 HGNC:14378 NPHP4 gene NPHP4 NHS GMS Renal superpanel - broad Renal and urinary tract disorders Nephronophthisis 4 #606966 17954299;26346198 False 1 0;100;0 29.40 False ENSG00000131697 ENSG00000131697 HGNC:19104 NPHS2 gene NPHS2 NHS GMS;Expert Review Red;UKGTN Renal superpanel - broad Renal and urinary tract disorders Hematuria, Benign Familial;Alport Syndrome, X-Linked;Alport Syndrome, Autosomal Recessive;Alport Syndrome, Autosomal Dominant;Nephrotic Syndrome, Type 2;?Modifier of COL4A variants 26138234 False 1 0;33;67 29.40 True ENSG00000116218 ENSG00000116218 HGNC:13394 NUP160 gene NUP160 NHS GMS Renal superpanel - broad Renal and urinary tract disorders ?Nephrotic syndrome, type 19 #618178 30179222 False 1 0;100;0 29.40 False ENSG00000030066 ENSG00000030066 HGNC:18017 NXF5 gene NXF5 NHS GMS Renal superpanel - broad Renal and urinary tract disorders FSGS;heart-block disorder 23686279 False 1 0;0;100 29.40 False ENSG00000126952 ENSG00000126952 HGNC:8075 OCRL gene OCRL Expert Review Red;UKGTN Renal superpanel - broad Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females False 1 50;0;50 29.40 False ENSG00000122126 ENSG00000122126 HGNC:8108 OCRL gene OCRL UKGTN;Expert Review Red Renal superpanel - broad Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females False 1 0;0;0 29.40 False ENSG00000122126 ENSG00000122126 HGNC:8108 PDE6D gene PDE6D Expert Review Red;Expert list;Radboud University Medical Center, Nijmegen;Other;UKGTN Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal ?Joubert syndrome 22;Joubert Syndrome and Senior-Loken Syndrome 24 gene panel;?Joubert syndrome 22, 615665 24166846 False 1 0;25;75 29.40 False ENSG00000156973 ENSG00000156973 HGNC:8788 PDSS2 gene PDSS2 Eligibility statement prior genetic testing Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;0 29.40 False ENSG00000164494 ENSG00000164494 HGNC:23041 PIBF1 gene PIBF1 Expert Review Red;Expert Review;Literature;Research Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;ataxia;vermis hypoplasia;developmental delay;thick superior cerebellar peduncles;superior cerebellar dysplasia 26167768;29695797;30858804 False 1 0;0;0 29.40 False ENSG00000083535 ENSG00000083535 HGNC:23352 PMM2 gene PMM2 Eligibility statement prior genetic testing Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;0 29.40 False ENSG00000140650 ENSG00000140650 HGNC:9115 PMM2 gene PMM2 NHS GMS;Expert Review Red;Eligibility statement prior genetic testing Renal superpanel - broad Renal and urinary tract disorders Congenital disorder of glycosylation, type Ia #212065 19474279;29229467 False 1 0;100;0 29.40 True ENSG00000140650 ENSG00000140650 HGNC:9115 PNMT gene PNMT Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders Unknown False 1 0;0;0 29.40 False ENSG00000141744 ENSG00000141744 HGNC:9160 PRKCSH gene PRKCSH Expert;Expert Review Red Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 29.40 False ENSG00000130175 ENSG00000130175 HGNC:9411 PTGIS gene PTGIS Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders Other - please specifiy in evaluation comments Hypertension, essential, 145500 False 1 0;0;0 29.40 False ENSG00000124212 ENSG00000124212 HGNC:9603 PTPRO gene PTPRO Eligibility statement prior genetic testing Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;0 29.40 False ENSG00000151490 ENSG00000151490 HGNC:9678 RET gene RET Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Expert list Renal superpanel - broad Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Renal Adysplasia;Multiple endocrine neoplasia IIA, 171400;Medullary thyroid carcinoma, 155240;Multiple endocrine neoplasia IIB, 162300;Central hypoventilation syndrome, congenital, 209880;Pheochromocytoma, 171300;Renal agenesis, 191830;{Hirschsprung disease, susceptibility to, 1}, 142623 False 1 0;0;0 29.40 False ENSG00000165731 ENSG00000165731 HGNC:9967 ROBO2 gene ROBO2 Illumina TruGenome Clinical Sequencing Services;Expert Review Red;Radboud University Medical Center, Nijmegen;Expert list Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Vesicoureteral reflux 2, 610878;Vesicoureteral Reflux False 1 0;0;0 29.40 False ENSG00000185008 ENSG00000185008 HGNC:10250 RPGRIP1L gene RPGRIP1L Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 29.40 True ENSG00000103494 ENSG00000103494 HGNC:29168 RPGRIP1L gene RPGRIP1L Expert Review Red;UKGTN Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal False 1 50;0;50 29.40 False ENSG00000103494 ENSG00000103494 HGNC:29168 RRM2B gene RRM2B Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 8A (encephalomyopathic,renal tubulopathy), 612075;Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) False 1 67;0;33 29.40 True ENSG00000048392 ENSG00000048392 HGNC:17296 SARS2 gene SARS2 Expert Review Red;UKGTN;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, 613845 21255763 False 1 0;0;0 29.40 False ENSG00000104835 ENSG00000104835 HGNC:17697 SDCCAG8 gene SDCCAG8 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000054282 ENSG00000054282 HGNC:10671 SDCCAG8 gene SDCCAG8 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 29.40 True ENSG00000054282 ENSG00000054282 HGNC:10671 SEC63 gene SEC63 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 29.40 False ENSG00000025796 ENSG00000025796 HGNC:21082 SEC63 gene SEC63 Expert Review Red;Expert list;UKGTN Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel False 1 0;0;0 29.40 False ENSG00000025796 ENSG00000025796 HGNC:21082 SHH gene SHH Expert Review Red;Expert list Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;0 29.40 False ENSG00000164690 ENSG00000164690 HGNC:10848 SHH gene SHH Expert Review Red;Expert list Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;100 29.40 True ENSG00000164690 ENSG00000164690 HGNC:10848 SIX1 gene SIX1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Branchiootorenal Spectrum Disorders False 1 0;0;0 29.40 False ENSG00000126778 ENSG00000126778 HGNC:10887 SIX1 gene SIX1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Branchiootorenal Spectrum Disorders False 1 100;0;0 29.40 False ENSG00000126778 ENSG00000126778 HGNC:10887 SIX5 gene SIX5 Expert Review Red;UKGTN;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootorenal syndrome 2, OMIM:610896 False 1 0;0;0 29.40 False ENSG00000177045 ENSG00000177045 HGNC:10891 SIX5 gene SIX5 Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootorenal syndrome 2, OMIM:610896 False 1 100;0;0 29.40 True ENSG00000177045 ENSG00000177045 HGNC:10891 SLC19A2 gene SLC19A2 NHS GMS;Expert Review Red;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270 False 1 0;0;100 29.40 True ENSG00000117479 ENSG00000117479 HGNC:10938 SLC19A2 gene SLC19A2 Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;Expert Review Red;UKGTN Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Thiamine-responsive megaloblastic anemia syndrome, OMIM:249270 False 1 0;0;0 29.40 False ENSG00000117479 ENSG00000117479 HGNC:10938 SLC19A3 gene SLC19A3 NHS GMS;Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) #607483;(originally on the Imerslund-Grasbeck syndrome gene panel) False 1 0;0;100 29.40 True ENSG00000135917 ENSG00000135917 HGNC:16266 SLC19A3 gene SLC19A3 Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive; (originally on the Imerslund-Grasbeck syndrome gene panel) False 1 0;0;0 29.40 False ENSG00000135917 ENSG00000135917 HGNC:16266 SLC26A1 gene SLC26A1 Expert Review Red;Expert list Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrolithiasis, calcium oxalate, MIM#167030 27210743;20160351;30383413;27125215;24250268;36719378 False 1 33;0;67 29.40 False ENSG00000145217 ENSG00000145217 HGNC:10993 SLC26A6 gene SLC26A6 Literature Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Enteric hyperoxaluria and nephrolithiasis 35115415 False 1 0;0;0 29.40 False ENSG00000225697 ENSG00000225697 HGNC:14472 SLC34A1 gene SLC34A1 Expert Review Red;NHS GMS Renal superpanel - broad Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypercalcemia, infantile, 2, MIM 616963;Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286;?Fanconi renotubular syndrome 2 613388 12324554;20335586 False 1 100;0;0 29.40 False ENSG00000131183 ENSG00000131183 HGNC:11019 SLC34A3 gene SLC34A3 Expert Review Red;NHS GMS Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypophosphatemic rickets with hypercalciuria, 241530 16358214;16358215;16849419 False 1 100;0;0 29.40 False ENSG00000198569 ENSG00000198569 HGNC:20305 SLC36A2 gene SLC36A2 Expert Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 29.40 False ENSG00000186335 ENSG00000186335 HGNC:18762 SLC41A1 gene SLC41A1 Expert Review Red;Expert list Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 23661805 False 1 0;0;100 29.40 False ENSG00000133065 ENSG00000133065 HGNC:19429 SLC6A19 gene SLC6A19 Expert Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal 19033659 False 1 0;0;100 29.40 False ENSG00000174358 ENSG00000174358 HGNC:27960 SLC6A20 gene SLC6A20 Expert Renal superpanel - broad Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;0;100 29.40 False ENSG00000163817 ENSG00000163817 HGNC:30927 SLC9A3 gene SLC9A3 Expert Renal superpanel - broad Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;0;100 29.40 False ENSG00000066230 ENSG00000066230 HGNC:11073 SLC9A3R1 gene SLC9A3R1 Expert Review Red;NHS GMS Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 18784102;25296721;19073985 False 1 100;0;0 29.40 False ENSG00000109062 ENSG00000109062 HGNC:11075 SLIT2 gene SLIT2 Expert list;Expert Review Red Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;0 29.40 False ENSG00000145147 ENSG00000145147 HGNC:11086 SMAD9 gene SMAD9 Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Pulmonary hypertension, primary, 2 615342" False 1 0;0;100 29.40 False ENSG00000120693 ENSG00000120693 HGNC:6774 SMARCA4 gene SMARCA4 Expert Review Red;Expert list Renal superpanel - broad Renal and urinary tract disorders Unknown False 1 0;0;100 29.40 True ENSG00000127616 ENSG00000127616 HGNC:11100 SMARCA4 gene SMARCA4 Expert list;Expert Review Red Renal superpanel - broad Renal and urinary tract disorders Unknown False 1 0;0;0 29.40 False ENSG00000127616 ENSG00000127616 HGNC:11100 SOX17 gene SOX17 Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders Vesicoureteral reflux 3, 613674 False 1 0;0;0 29.40 False ENSG00000164736 ENSG00000164736 HGNC:18122 SOX17 gene SOX17 Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders Vesicoureteral reflux 3, 613674 False 1 0;0;100 29.40 True ENSG00000164736 ENSG00000164736 HGNC:18122 SPRY1 gene SPRY1 Expert Review Red;Expert list Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;0 29.40 False ENSG00000164056 ENSG00000164056 HGNC:11269 SPRY1 gene SPRY1 Expert Review Red;Expert list Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;100 29.40 True ENSG00000164056 ENSG00000164056 HGNC:11269 SYNPO gene SYNPO NHS GMS Renal superpanel - broad Renal and urinary tract disorders Focal segmental glomerulosclerosis;FSGS 19666657 False 1 0;100;0 29.40 False ENSG00000171992 ENSG00000171992 HGNC:30672 TCTN1 gene TCTN1 Expert;Expert Review Red Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN1 gene TCTN1 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;100;0 29.40 True ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN3 gene TCTN3 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 29.40 True ENSG00000119977 ENSG00000119977 HGNC:24519 TCTN3 gene TCTN3 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000119977 ENSG00000119977 HGNC:24519 THBD gene THBD NHS GMS;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hemolytic uremic syndrome, atypical, susceptibility to, 6, 612926;Thrombophilia due to thrombomodulin defect 614486 19625716;25135378;20513133;23307876 False 1 0;20;80 29.40 False ENSG00000178726 ENSG00000178726 HGNC:11784 TMEM138 gene TMEM138 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 29.40 True ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM138 gene TMEM138 Expert;Expert Review Red Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM216 gene TMEM216 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM216 gene TMEM216 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 29.40 True ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM231 gene TMEM231 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 29.40 True ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM231 gene TMEM231 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 29.40 True ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM237 gene TMEM237 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000155755 ENSG00000155755 HGNC:14432 TNXB gene TNXB Expert list Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;100 29.40 False ENSG00000168477 ENSG00000168477 HGNC:11976 TNXB gene TNXB Expert list Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;0 29.40 False ENSG00000168477 ENSG00000168477 HGNC:11976 TRIM32 gene TRIM32 UKGTN;Expert Review Red;Expert list;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 11, 615988;Muscular dystrophy, limb-girdle, type 2H, 254110 11822024;16606853 False 1 0;0;100 29.40 False ENSG00000119401 ENSG00000119401 HGNC:16380 TRIM32 gene TRIM32 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;100 29.40 True ENSG00000119401 ENSG00000119401 HGNC:16380 TRIM32 gene TRIM32 Expert;Expert Review Red Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000119401 ENSG00000119401 HGNC:16380 TRPM6 gene TRPM6 Expert Review Red;Illumina TruGenome Clinical Sequencing Services Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia with Secondary Hypocalcemia False 1 0;0;100 29.40 False ENSG00000119121 ENSG00000119121 HGNC:17995 TSHZ3 gene TSHZ3 Expert Review Red;Expert list Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 33;0;67 29.40 True ENSG00000121297 ENSG00000121297 HGNC:30700 TSHZ3 gene TSHZ3 Expert list;Expert Review Red Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;0;0 29.40 False ENSG00000121297 ENSG00000121297 HGNC:30700 TTC21B gene TTC21B NHS GMS Renal superpanel - broad Renal and urinary tract disorders Nephronophthisis 12 # 613820 26940125;24876116 False 1 0;100;0 29.40 False ENSG00000123607 ENSG00000123607 HGNC:25660 TTC8 gene TTC8 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;100 29.40 True ENSG00000165533 ENSG00000165533 HGNC:20087 TTC8 gene TTC8 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000165533 ENSG00000165533 HGNC:20087 UMOD gene UMOD Expert Review Red;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Uromodulin-associated kidney disease;Medullary Cystic Kidney Disease 2;Hyperuricemic nephropathy, familial juvenile 1, 162000 False 1 50;0;50 29.40 False ENSG00000169344 ENSG00000169344 HGNC:12559 UMOD gene UMOD Expert Review Red;Expert list;Emory Genetics Laboratory;UKGTN Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel False 1 0;0;0 29.40 False ENSG00000169344 ENSG00000169344 HGNC:12559 UPK2 gene UPK2 Expert Review Red;Expert list Renal superpanel - broad Renal and urinary tract disorders Other - please specifiy in evaluation comments False 1 0;0;100 29.40 True ENSG00000110375 ENSG00000110375 HGNC:12579 UPK2 gene UPK2 Expert Review Red;Expert list Renal superpanel - broad Renal and urinary tract disorders Other - please specifiy in evaluation comments False 1 0;0;0 29.40 False ENSG00000110375 ENSG00000110375 HGNC:12579 UPK3A gene UPK3A Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Expert list Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Renal Adysplasia False 1 0;0;0 29.40 False ENSG00000100373 ENSG00000100373 HGNC:12580 UPK3A gene UPK3A Expert Review Red;Expert list;Illumina TruGenome Clinical Sequencing Services Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Renal Adysplasia False 1 0;0;100 29.40 True ENSG00000100373 ENSG00000100373 HGNC:12580 VDR gene VDR Expert Renal superpanel - broad Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;0;100 29.40 False ENSG00000111424 ENSG00000111424 HGNC:12679 VIPAS39 gene VIPAS39 Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 False 1 100;0;0 29.40 False ENSG00000151445 ENSG00000151445 HGNC:20347 VPS33B gene VPS33B Expert Review Red;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN Renal superpanel - broad Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, Renal Dysfunction, and Cholestasis Syndrome;Arthrogryposis, renal dysfunction, and cholestasis 1, 208085;Arthrogryposis, renal dysfunction, and cholestasis False 1 67;0;33 29.40 True ENSG00000184056 ENSG00000184056 HGNC:12712 VPS33B gene VPS33B NHS GMS Renal superpanel - broad Renal and urinary tract disorders Arthrogryposis, renal dysfunction, and cholestasis 1 #208085 18853461 False 1 0;100;0 29.40 False ENSG00000184056 ENSG00000184056 HGNC:12712 VTN gene VTN NHS GMS Renal superpanel - broad Renal and urinary tract disorders Unknown Atypical haemolytic uraemic syndrome;aHUS 30377230 False 1 0;50;50 29.40 False ENSG00000109072 ENSG00000109072 HGNC:12724 WDPCP gene WDPCP Expert;Expert Review Red Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000143951 ENSG00000143951 HGNC:28027 WDPCP gene WDPCP Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;100;0 29.40 True ENSG00000143951 ENSG00000143951 HGNC:28027 WDR19 gene WDR19 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;0 29.40 False ENSG00000157796 ENSG00000157796 HGNC:18340 XPO5 gene XPO5 NHS GMS Renal superpanel - broad Renal and urinary tract disorders Nephrotic syndrome 26878725 False 1 0;0;100 29.40 False ENSG00000124571 ENSG00000124571 HGNC:17675 XPR1 gene XPR1 Expert Review Red;Expert Review;Literature Renal superpanel - broad Renal and urinary tract disorders Unknown Fanconi syndrome;hypophosphatamia 27799484 False 1 0;0;100 29.40 False Other ENSG00000143324 ENSG00000143324 HGNC:12827 ZMPSTE24 gene ZMPSTE24 Eligibility statement prior genetic testing Renal superpanel - broad Renal and urinary tract disorders False 1 0;0;0 29.40 False ENSG00000084073 ENSG00000084073 HGNC:12877 ZMPSTE24 gene ZMPSTE24 NHS GMS;Expert Review Red;Eligibility statement prior genetic testing Renal superpanel - broad Renal and urinary tract disorders Mandibuloacral dysplasia with type B lipodystrophy #608612 17152860 False 1 0;100;0 29.40 True ENSG00000084073 ENSG00000084073 HGNC:12877 ZNF365 gene ZNF365 Expert Review Red;Expert Renal superpanel - broad Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Possible cause of uric acid stones;{Nephrolithiasis, uric acid, susceptibility to} False 1 50;0;50 29.40 True ENSG00000138311 ENSG00000138311 HGNC:18194 ZNF423 gene ZNF423 Expert;Expert Review Red Renal superpanel - broad Renal and urinary tract disorders Joubert syndrome 19, OMIM:614844;Nephronophthisis 14, OMIM:614844 False 1 0;0;0 29.40 False ENSG00000102935 ENSG00000102935 HGNC:16762