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 ACE gene ACE Expert Review Green;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal Tubular Dysgenesis;{Myocardial infarction, susceptibility to}{Alzheimer disease, susceptibility to}, 104300{Microvascular complications of diabetes 3}, 612624[Angiotensin I-converting enzyme, benign serum increase]{SARS, progression of}Renal tubular 30058238;16116425 False 3 100;0;0 16.74 True ENSG00000159640 ENSG00000159640 HGNC:2707 ACTG2 gene ACTG2 Expert Review Green;Expert Review Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megacystis-microcolon intestinal hypoperistalsis syndrome; visceral myopathy; Berdon syndrome PMID: 25998219 False 3 100;0;0 16.74 False ENSG00000163017 ENSG00000163017 HGNC:145 ACTN4 gene ACTN4 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomerulosclerosis, focal segmental, 1 603278 10700177;26301083;16251236;29043128 False 3 100;0;0 16.74 True Other - please provide details in the comments ENSG00000130402 ENSG00000130402 HGNC:166 AGT gene AGT Expert Review Green;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal Tubular Dysgenesis;{Hypertension, essential, susceptibility to}, 145500{Preeclampsia, susceptibility to}Renal tubular dysgenesis, 267430 False 3 100;0;0 16.74 True ENSG00000135744 ENSG00000135744 HGNC:333 AGTR1 gene AGTR1 Expert Review Green;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal Tubular Dysgenesis;Hypertension, essential, 145500;Renal tubular dysgenesis, 267430 False 3 100;0;0 16.74 True ENSG00000144891 ENSG00000144891 HGNC:336 AGXT gene AGXT Expert Review Green;Eligibility statement prior genetic testing;Expert;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN;Emory Genetics Laboratory Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Primary Hyperoxaluria Type 1;Primary Hyperoxaluria;Hyperoxaluria, primary, type 1, 259900;Hyperoxaluria;primary hyperoxaluria False 3 100;0;0 16.74 True ENSG00000172482 ENSG00000172482 HGNC:341 AHI1 gene AHI1 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 3;Joubert syndrome;Joubert syndrome-3. False 3 100;0;0 16.74 False ENSG00000135541 ENSG00000135541 HGNC:21575 ALG5 gene ALG5 NHS GMS;Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic kidney disease 7, OMIM:620056 35896117 False 3 100;0;0 16.74 False ENSG00000120697 ENSG00000120697 HGNC:20266 ALG8 gene ALG8 Expert Review Green;Expert Review Renal superpanel - narrow Renal and urinary tract disorders 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 16.74 False ENSG00000159063 ENSG00000159063 HGNC:23161 ALG9 gene ALG9 Expert Review Green;Expert Review Renal superpanel - narrow Renal and urinary tract disorders 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 16.74 False ENSG00000086848 ENSG00000086848 HGNC:15672 ALMS1 gene ALMS1 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Eligibility statement prior genetic testing;UKGTN;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl Syndrome;Alstrom syndrome, OMIM:203800 22773737 False 3 0;0;100 16.74 False ENSG00000116127 ENSG00000116127 HGNC:428 AMN gene AMN Expert Review Green;NHS GMS;Expert;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia-1, Norwegian type, OMIM:261100 12590260;26040326 False 3 33;33;33 16.74 True ENSG00000166126 ENSG00000166126 HGNC:14604 ANKS6 gene ANKS6 Orphanet;Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen;UKGTN Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel;Nephronophthisis 16, OMIM:615382 23793029;34740236 False 3 100;0;0 16.74 False ENSG00000165138 ENSG00000165138 HGNC:26724 ANKS6 gene ANKS6 NHS GMS;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronopthisis 16 MIM 615382 2379302 False 3 100;0;0 16.74 False ENSG00000165138 ENSG00000165138 HGNC:26724 ANKS6 gene ANKS6 Expert Review Green;Expert Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Nephronophthisis 16, OMIM:615382 34740236 False 3 100;0;0 16.74 True ENSG00000165138 ENSG00000165138 HGNC:26724 ANOS1 gene ANOS1 Expert Review Green;Expert Review Renal superpanel - narrow Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Kallman syndrome;Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) False 3 100;0;0 16.74 False ENSG00000011201 ENSG00000011201 HGNC:6211 AP2S1 gene AP2S1 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial hypocalciuric hypercalcemia type III 600740 23222959 False 3 100;0;0 16.74 False ENSG00000042753 ENSG00000042753 HGNC:565 APOE gene APOE Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lipoprotein glomerulopathy, OMIM:611771 10432380;9176854;18077821;31092271 False 3 100;0;0 16.74 False ENSG00000130203 ENSG00000130203 HGNC:613 APRT gene APRT Expert Review Green;Expert Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Adenine phosphoribosyltransferase deficiency 614723" False 3 0;0;0 16.74 False ENSG00000198931 ENSG00000198931 HGNC:626 AQP2 gene AQP2 NHS GMS;Expert Review Green;Other Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Diabetes insipidus, nephrogenic, 125800;Nephrogenic diabetes insipidus 8140421;7524315;9048343;9649557;9302264;9745427;11929850;12050236;15509592 False 3 100;0;0 16.74 False ENSG00000167580 ENSG00000167580 HGNC:634 ARHGDIA gene ARHGDIA NHS GMS;Expert Review Green;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 8 #615224 23434736;23867502;30295827 False 3 0;100;0 16.74 True ENSG00000141522 ENSG00000141522 HGNC:678 ARL13B gene ARL13B Expert Review Green;Expert list;Other Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 8 18674751;25138100 False 3 100;0;0 16.74 False ENSG00000169379 ENSG00000169379 HGNC:25419 ARL6 gene ARL6 Eligibility statement prior genetic testing;Expert list;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal {Bardet Biedl syndrome 1, modifier of};Bardet-Biedl Syndrome;268000;Bardet Biedl syndrome 3 15258860;21282186 False 3 100;0;0 16.74 False ENSG00000113966 ENSG00000113966 HGNC:13210 ATP1A1 gene ATP1A1 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypomagnesemia, seizures, and mental retardation 2 618314;Charcot-Marie-Tooth disease, axonal, type 2DD, 618036 30388404 False 3 100;0;0 16.74 False ENSG00000163399 ENSG00000163399 HGNC:799 ATP6V0A4 gene ATP6V0A4 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing;Expert Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722 27274828;32123165;23729491;25572248;26208211;26571219;27247958;28233610;29202719;29725771;30230413;30256676;31348261;31929293;32613277;33881640;34159584 False 3 100;0;0 16.74 True ENSG00000105929 ENSG00000105929 HGNC:866 ATP6V0A4 gene ATP6V0A4 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing;Expert;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Distal renal tubular acidosis 3, with or without sensorineural hearing loss, OMIM:602722 27274828;32123165;23729491;25572248;26208211;26571219;27247958;28233610;29202719;29725771;30230413;30256676;31348261;31929293;32613277;33881640;34159584 False 3 100;0;0 16.74 True ENSG00000105929 ENSG00000105929 HGNC:866 ATP6V1B1 gene ATP6V1B1 Expert Review Green;Eligibility statement prior genetic testing;Expert Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal distal renal tubular acidosis;Renal tubular acidosis with deafness 267300 False 3 0;0;0 16.74 True ENSG00000116039 ENSG00000116039 HGNC:853 ATP6V1B1 gene ATP6V1B1 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing;Expert;UKGTN;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular acidosis with deafness, 267300;Distal Renal Tubular Acidosis with Progressive Nerve Deafness;Distal renal tubular acidosis False 3 100;0;0 16.74 True ENSG00000116039 ENSG00000116039 HGNC:853 AVPR2 gene AVPR2 NHS GMS;Expert Review Green;Other Renal superpanel - narrow 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) Diabetes insipidus, nephrogenic, OMIM:304800;Nephrogenic syndrome of inappropriate antidiuresis, OMIM:300539 18726898;27565746;27117808;26974133;26828532 False 3 100;0;0 16.74 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000126895 ENSG00000126895 HGNC:897 B9D2 gene B9D2 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 34, OMIM:614175;Meckel syndrome 10, OMIM:614175;Meckel syndrome, type 10, MONDO:0013609 26092869;21763481;31411728 False 3 0;0;100 16.74 False ENSG00000123810 ENSG00000123810 HGNC:28636 BBS1 gene BBS1 Eligibility statement prior genetic testing;Expert list;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 1 OMIM:209900;Bardet-Biedl syndrome 1 MONDO:0008854 23143442;12118255 False 3 100;0;0 16.74 False ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Eligibility statement prior genetic testing;Expert list;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 10 16582908 False 3 100;0;0 16.74 False ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Eligibility statement prior genetic testing;Expert list;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 12 17160889 False 3 100;0;0 16.74 False ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Eligibility statement prior genetic testing;Expert list;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 2 11285252 False 3 100;0;0 16.74 False ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Eligibility statement prior genetic testing;Expert list;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 4 11381270;22353939 False 3 100;0;0 16.74 False ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Eligibility statement prior genetic testing;Expert list;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 5 15137946 False 3 100;0;0 16.74 False ENSG00000163093 ENSG00000163093 HGNC:970 BBS7 gene BBS7 Eligibility statement prior genetic testing;Expert list;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 7 12567324 False 3 100;0;0 16.74 False ENSG00000138686 ENSG00000138686 HGNC:18758 BBS9 gene BBS9 Eligibility statement prior genetic testing;Expert list;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 9 16380913 False 3 100;0;0 16.74 False ENSG00000122507 ENSG00000122507 HGNC:30000 BNC2 gene BNC2 Expert Review Green;Other Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Posterior urethral valves;PUV;Congenital lower urinary-tract obstruction;Lower urinary tract obstruction, congenital, 618612 31051115 False 3 50;0;50 16.74 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000173068 ENSG00000173068 HGNC:30988 BSND gene BSND Expert Review Green;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bartter Syndrome;Bartter syndrome, type 4a, 602522;Sensorineural deafness with mild renal dysfunction, 602522 False 3 100;0;0 16.74 True ENSG00000162399 ENSG00000162399 HGNC:16512 BSND gene BSND NHS GMS;Expert Review Green;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypokalaemic alkalosis with hypercalciuria;Bartter syndrome type 4a;Sensorineural deafness with mild renal dysfunction MIM 602522 11687798 False 3 100;0;0 16.74 True ENSG00000162399 ENSG00000162399 HGNC:16512 C3 gene C3 Expert Review Green;NHS GMS;Expert list Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hemolytic uremic syndrome, atypical, susceptibility to, 5, OMIM:612925;C3 glomerulopathy;C3G 24172683;20852386;18796626;21902819;26471127 False 3 50;25;25 16.74 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000125730 ENSG00000125730 HGNC:1318 C3 gene C3 NHS GMS;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hemolytic uremic syndrome, atypical, susceptibility to, 5, OMIM:612925 18796626 False 3 67;33;0 16.74 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000125730 ENSG00000125730 HGNC:1318 C5orf42 gene C5orf42 Expert Review Green;Expert list;Other Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Oral-facial-digital syndrome type VI;Joubert syndrome 17 22693042;25920555;22425360 False 3 100;0;0 16.74 False ENSG00000197603 ENSG00000197603 HGNC:25801 CA2 gene CA2 NHS GMS;Expert Review Green;Expert;UKGTN;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730;Osteopetrosis with Renal Tubular Acidosis 1301935 False 3 100;0;0 16.74 True ENSG00000104267 ENSG00000104267 HGNC:1373 CA2 gene CA2 Expert Review Green;Expert Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 3, with renal tubular acidosis False 3 100;0;0 16.74 True ENSG00000104267 ENSG00000104267 HGNC:1373 CASR gene CASR Expert Review Green;Eligibility statement prior genetic testing;Expert;Radboud University Medical Center, Nijmegen;UKGTN;Illumina TruGenome Clinical Sequencing Services Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Familial Hypocalciuric Hypercalcemia;Hypocalciuric hypercalcemia, type I, 145980Hyperparathyroidism, neonatal, 239200Hypocalcemia, autosomal dominant, 601198Hypocalcemia, autosomal dominant, with Bartter syndrome, 601198{Epilepsy idiopathic generalized, susceptibility to,;Hypocalcemia (dominant); Familial Hypocalciuric Hypercalcemia (dominant);hypocalciuric hypercalcaemia False 3 100;0;0 16.74 False Other ENSG00000036828 ENSG00000036828 HGNC:1514 CASR gene CASR Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypocalcemia, autosomal dominant, (with Bartter syndrome), 601198;Hypocalciuric hypercalcemia, type I, 145980;Hyperparathyroidism, neonatal, 239200 7916660;7673400;7726161;8675635;17698911;7874174;7808841;8733126;12191970;15005845;17048213 False 3 100;0;0 16.74 False ENSG00000036828 ENSG00000036828 HGNC:1514 CC2D2A gene CC2D2A Orphanet;Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 9;COACH syndrome;Joubert syndrome with oculorenal defect;Meckel syndrome 6;Meckel syndrome False 3 100;0;0 16.74 False ENSG00000048342 ENSG00000048342 HGNC:29253 CD151 gene CD151 Expert Review Green;NHS GMS;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephropathy with pretibial epidermolysis bullosa and deafness, OMIM:609057;nephrotic syndrome - deafness - pretibial epidermolysis bullosa syndrome, MONDO:0012190 15265795;17015618;29138120;32641585;22338088;18787104;22201679 False 3 50;25;25 16.74 True ENSG00000177697 ENSG00000177697 HGNC:1630 CD46 gene CD46 NHS GMS;Expert Review Green;UKGTN;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hemolytic uremic syndrome, atypical, susceptibility to, 2 612922 14615110;14566051;16621965 False 3 67;33;0 16.74 False ENSG00000117335 ENSG00000117335 HGNC:6953 CENPF gene CENPF Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Stromme syndrome, OMIM:243605;Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome 26820108 False 3 33;0;67 16.74 False ENSG00000117724 ENSG00000117724 HGNC:1857 CEP104 gene CEP104 Expert Review Green;Radboud University Medical Center, Nijmegen;Other Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 25, 616781;Joubert syndrome 25 26477546 False 3 100;0;0 16.74 False ENSG00000116198 ENSG00000116198 HGNC:24866 CEP164 gene CEP164 Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal ciliopathies;Nephronophthisis 15;Senior-Loken syndrome;Nephronophthisis 15, 614845 False 3 0;0;0 16.74 False ENSG00000110274 ENSG00000110274 HGNC:29182 CEP164 gene CEP164 Expert Review Green;Expert Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease False 3 100;0;0 16.74 True ENSG00000110274 ENSG00000110274 HGNC:29182 CEP164 gene CEP164 NHS GMS;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronopthisis 15 MIM 614845 False 3 100;0;0 16.74 False ENSG00000110274 ENSG00000110274 HGNC:29182 CEP290 gene CEP290 Orphanet;Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal 610189;Meckel syndrome 4;Senior-Loken syndrome;611755;Joubert syndrome 5;Joubert syndrome with oculorenal defect;610188;Senior-Loken syndrome 6;611134;Meckel syndrome 20690115;18327255 False 3 50;0;50 16.74 False ENSG00000198707 ENSG00000198707 HGNC:29021 CEP41 gene CEP41 Expert Review Green;Expert list;Other Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 15 22246503 False 3 100;0;0 16.74 False ENSG00000106477 ENSG00000106477 HGNC:12370 CEP55 gene CEP55 Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, 236500;MARCH syndrome;Meckel-like syndrome;lethal CEP55-related syndromes 30622327;28264986;32100459;28295209 False 3 100;0;0 16.74 False ENSG00000138180 ENSG00000138180 HGNC:1161 CEP83 gene CEP83 Orphanet;Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen;UKGTN Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 18 615862 24882706 False 3 100;0;0 16.74 False ENSG00000173588 ENSG00000173588 HGNC:17966 CEP83 gene CEP83 NHS GMS;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronopthisis 18 MIM 615862 False 3 100;0;0 16.74 False ENSG00000173588 ENSG00000173588 HGNC:17966 CEP83 gene CEP83 Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal NEPHRONOPHTHISIS 18 24882706 False 3 100;0;0 16.74 False ENSG00000173588 ENSG00000173588 HGNC:17966 CFB gene CFB NHS GMS;Expert Review Green;Illumina TruGenome Clinical Sequencing Services Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hemolytic uremic syndrome, atypical, susceptibility to, 4 612924 17182750;26826462;19584399;23307876 False 3 67;33;0 16.74 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000243649 ENSG00000243649 HGNC:1037 CFB gene CFB Expert Review Green;NHS GMS;Expert list Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Haemolytic uraemic syndrome;aHUS;Hemolytic uremic syndrome, atypical, susceptibility to, 4, 612924;C3 glomerulopathy;C3G;Immune complex MPGN;IC-MPGN;MPGN;Membranoproliferative glomerulonephritis 25758434;17182750;21902819;26283675 False 3 20;40;40 16.74 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000243649 ENSG00000243649 HGNC:1037 CFH gene CFH NHS GMS;Expert Review Green;UKGTN;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hemolytic uremic syndrome, atypical, susceptibility to, 1 235400 26826462 False 3 67;33;0 16.74 False ENSG00000000971 ENSG00000000971 HGNC:4883 CFH gene CFH NHS GMS;Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal C3 glomerulopathy;C3G; Immune complex MPGN;IC-MPGN;Hemolytic uremic syndrome, atypical, susceptibility to, 1, 235400; Dense Deposit Disease; Membranoproliferative Glomerulonephritis Type II;Immune-complex-mediated MPGN 24172683;16612335;24722444;27458560;9312129 False 3 75;25;0 16.74 False ENSG00000000971 ENSG00000000971 HGNC:4883 CFHR1 gene CFHR1 NHS GMS;Expert Review Green;UKGTN Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Hemolytic uremic syndrome, atypical, susceptibility to 235400" 16998489; 17367211 False 3 50;50;0 16.74 False ENSG00000244414 ENSG00000244414 HGNC:4888 CFHR1 gene CFHR1 Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal C3 glomerulopathy;C3G; Immune complex MPGN;IC-MPGN; Hemolytic uremic syndrome, atypical, susceptibility to, 235400;Immune-complex-mediated MPGN 24172683;23728178;24334459;20800271;27458560 False 3 100;0;0 16.74 False ENSG00000244414 ENSG00000244414 HGNC:4888 CFHR2 gene CFHR2 Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal C3 glomerulopathy;C3G; Immune complex MPGN;IC-MPGN;Immune-complex-mediated MPGN 24172683;24334459;23728178;20800271; 22456601;27458560 False 3 100;0;0 16.74 False ENSG00000080910 ENSG00000080910 HGNC:4890 CFHR3 gene CFHR3 Expert Review Green;UKGTN;Literature Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal "Hemolytic uremic syndrome, atypical, susceptibility to 235400" 16998489; 17367211 False 3 100;0;0 16.74 False ENSG00000116785 ENSG00000116785 HGNC:16980 CFHR5 gene CFHR5 Expert Review Green;NHS GMS;Expert list Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown C3 glomerulopathy;C3G;Immune complex MPGN;IC-MPGN;Nephropathy due to CFHR5 deficiency, OMIM:614809;Immune-complex-mediated MPGN;CFHR5 nephropathy;Haematuria;Chronic Kidney Disease;Proteinuria;End stage renal disease 24172683;20800271;24067434;23728178;27458560;21566112;32928961;22503529;30844074;28729035;27490940;28729035;27490940;33753502;30197990 False 3 100;0;0 16.74 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000134389 ENSG00000134389 HGNC:24668 CFI gene CFI Expert Review Green;NHS GMS;Expert list Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN; Immune-complex-mediated MPGN;Hemolytic uremic syndrome, atypical, susceptibility to, 3,612923 24172683;18371543;22456601;27458560 False 3 50;0;50 16.74 False ENSG00000205403 ENSG00000205403 HGNC:5394 CFI gene CFI NHS GMS;Expert Review Green;UKGTN;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hemolytic uremic syndrome, atypical, susceptibility to, 3, OMIM:612923;Complement factor I deficiency, OMIM:610984 16621965;17597211;15173250;23685748;17018561;10352206 False 3 67;33;0 16.74 False ENSG00000205403 ENSG00000205403 HGNC:5394 CHD7 gene CHD7 Expert Review Green;Expert Review Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome False 3 100;0;0 16.74 False ENSG00000171316 ENSG00000171316 HGNC:20626 CHRM3 gene CHRM3 Expert Review Green;Expert Review Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Prune belly syndrome, OMIM:100100;Megacystis;Urinary Bladder Disease 10944224;22077972;31441039 False 3 50;0;50 16.74 False ENSG00000133019 ENSG00000133019 HGNC:1952 CHRNA3 gene CHRNA3 Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal CAKUT;dysautonomia 31708116 False 3 100;0;0 16.74 False ENSG00000080644 ENSG00000080644 HGNC:1957 CLCN5 gene CLCN5 Expert Review Green;Expert;UKGTN;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Renal superpanel - narrow Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Dent Disease;Dent disease, 300009;Nephrolithiasis, type I, 310468Hypophosphatemic rickets, 300554;Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990;Nephrocalcinosis with low molecular weight proteinuria and pregressive CKD False 3 100;0;0 16.74 True ENSG00000171365 ENSG00000171365 HGNC:2023 CLCN5 gene CLCN5 NHS GMS;Expert Review Green;Radboud University Medical Center, Nijmegen Renal superpanel - narrow 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) Dent disease, 300009; Nephrolithiasis, type I, 310468; Hypophosphatemic rickets, 300554; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 27757584;25907713;23886564 False 3 50;50;0 16.74 True ENSG00000171365 ENSG00000171365 HGNC:2023 CLCNKB gene CLCNKB Expert Review Green;Expert;Radboud University Medical Center, Nijmegen;UKGTN Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Bartter syndrome, type 3, OMIM:607364;Bartter disease type 3, MONDO:0011822;Bartter syndrome, type 4b, digenic, OMIM:613090;Bartter disease type 4B, MONDO:0000909 28018459;23550235 False 3 100;0;0 16.74 True ENSG00000184908 ENSG00000184908 HGNC:2027 CLCNKB gene CLCNKB NHS GMS;Expert Review Green;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 3, OMIM:607364;Bartter disease type 3, MONDO:0011822;Bartter syndrome, type 4b, digenic, OMIM:613090;Bartter disease type 4B, MONDO:0000909 9326936;18310267;32506365;32488762;30999883;26770037;27103762 False 3 100;0;0 16.74 True ENSG00000184908 ENSG00000184908 HGNC:2027 CLDN10 gene CLDN10 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypokalemic-alkalotic salt-losing tubulopathy;HELIX syndrome, OMIM:617671 19307729;31671507 False 3 50;50;0 16.74 False ENSG00000134873 ENSG00000134873 HGNC:2033 CLDN16 gene CLDN16 Expert Review Green;Expert Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 3, renal False 3 100;0;0 16.74 True ENSG00000113946 ENSG00000113946 HGNC:2037 CLDN16 gene CLDN16 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 3, renal 248250 10390358;10878661;16528408;16501001;26426912 False 3 100;0;0 16.74 False ENSG00000113946 ENSG00000113946 HGNC:2037 CLDN19 gene CLDN19 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 5, renal, with ocular involvement, 248190 17033971;22422540;27530400 False 3 100;0;0 16.74 False ENSG00000164007 ENSG00000164007 HGNC:2040 CLDN19 gene CLDN19 Expert Review Green;Expert Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal hypomagensemia with nephrocalcinosis;Hypomagnesemia 5, renal, with ocular involvement PMID: 17033971 False 3 100;0;0 16.74 True ENSG00000164007 ENSG00000164007 HGNC:2040 CNNM2 gene CNNM2 NHS GMS;Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hypomagnesemia 6, renal, OMIM:613882;Hypomagnesemia, seizures, and mental retardation, OMIM:616418;renal hypomagnesemia 6, MONDO:0013480;Hypomagnesemia, seizures, and mental retardation, MONDO:0014631 33600043;30026055;32997713;34604137;33859252;24699222;35002148;21397062 False 3 100;0;0 16.74 False Other ENSG00000148842 ENSG00000148842 HGNC:103 COL4A1 gene COL4A1 Expert Review Green;Expert Review Renal superpanel - narrow Renal and urinary tract disorders 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 16.74 False ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A1 gene COL4A1 NHS GMS;Expert Review Green;Expert Review Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Exophytic renal cysts;haematuria;Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps OMIM:611773 18160688;20818663;27190376;26839400;26260163;28717939;19238787 False 3 100;0;0 16.74 True ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A3 gene COL4A3 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Alport syndrome, autosomal dominant #104200;Alport syndrome, autosomal recessive #203780;Hematuria, benign familial #141200 30506145;29987460;24052634 False 3 100;0;0 16.74 True ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A3 gene COL4A3 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing;UKGTN;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Alport syndrome, autosomal dominant OMIM:104200;Alport syndrome, autosomal recessive OMIM:203780;Hematuria, benign familial OMIM:141200 17942953;30506145;29987460;24052634 False 3 100;0;0 16.74 True Other - please provide details in the comments ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A4 gene COL4A4 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Alport syndrome 2, autosomal recessive, OMIM:203780;Hematuria,familial benign, OMIM:141200 30506145;29987460;24052634 False 3 100;0;0 16.74 True ENSG00000081052 ENSG00000081052 HGNC:2206 COL4A4 gene COL4A4 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing;UKGTN;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Alport syndrome 2, autosomal recessive OMIM:203780;Hematuria, familial benign OMIM:141200 17942953;30506145;29987460;24052634 False 3 100;0;0 16.74 True Other - please provide details in the comments ENSG00000081052 ENSG00000081052 HGNC:2206 COL4A5 gene COL4A5 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing;UKGTN;Radboud University Medical Center, Nijmegen Renal superpanel - narrow 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 1, X-linked OMIM:301050 14514738 False 3 100;0;0 16.74 True Other - please provide details in the comments ENSG00000188153 ENSG00000188153 HGNC:2207 COL4A5 gene COL4A5 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing Renal superpanel - narrow 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) Alports;Familial benign haematuria;Alport syndrome;proteinuria;haematuria;FSGS 29987460;29270492 False 3 100;0;0 16.74 True ENSG00000188153 ENSG00000188153 HGNC:2207 COQ2 gene COQ2 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 1, OMIM:607426 17855635;29637272;30180404 False 3 100;0;0 16.74 True ENSG00000173085 ENSG00000173085 HGNC:25223 COQ6 gene COQ6 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 6 #614650 21540551 False 3 50;50;0 16.74 True ENSG00000119723 ENSG00000119723 HGNC:20233 COQ8B gene COQ8B Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 9 #615573 24270420 False 3 100;0;0 16.74 False ENSG00000123815 ENSG00000123815 HGNC:19041 CRB2 gene CRB2 Expert Review Green;NHS GMS;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal steroid resistant nephrotic syndrome;Focal segmental glomerulosclerosis 9 #616220;Ventriculomegaly with cystic kidney disease #219730 25557779;27942854;29473663 False 3 100;0;0 16.74 False ENSG00000148204 ENSG00000148204 HGNC:18688 CRB2 gene CRB2 Expert Review;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ventriculomegaly with cystic kidney disease 219730 25557780 False 3 100;0;0 16.74 False ENSG00000148204 ENSG00000148204 HGNC:18688 CSPP1 gene CSPP1 Orphanet;Expert Review Green;Expert list;Other Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Meckel syndrome;Joubert syndrome 21;Meckel-Gruber syndrome 24360807;24360803;24360808 False 3 100;0;0 16.74 False ENSG00000104218 ENSG00000104218 HGNC:26193 CTNS gene CTNS NHS GMS;UKGTN;Literature;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;Expert Review;Emory Genetics Laboratory Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Cystinosis, atypical nephropathic 219800;Cystinosis, late-onset juvenile or adolescent nephropathic 219900;Cystinosis, nephropathic 219800;Cystinosis, ocular nonnephropathic 219750 27604308;9537412;19863563;35137071 False 3 100;0;0 16.74 False ENSG00000040531 ENSG00000040531 HGNC:2518 CTU2 gene CTU2 Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal DREAM PL syndrome;Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome, 618142 27480277;26633546;31301155 False 3 100;0;0 16.74 False ENSG00000174177 ENSG00000174177 HGNC:28005 CUBN gene CUBN NHS GMS;Expert Review Green;Expert;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia-1, Finnish type, 261100;Megaloblastic Anemia; (originally on the Imerslund-Grasbeck syndrome gene panel) 21903995;22574174 False 3 50;50;0 16.74 True ENSG00000107611 ENSG00000107611 HGNC:2548 CUL3 gene CUL3 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism, type IIE, 214496 22266938 False 3 100;0;0 16.74 False ENSG00000036257 ENSG00000036257 HGNC:2553 CYP24A1 gene CYP24A1 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypercalcemia, infantile, 1 143880 21675912;22047572 False 3 100;0;0 16.74 False ENSG00000019186 ENSG00000019186 HGNC:2602 CYP24A1 gene CYP24A1 Expert Review Green;Expert;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Infantile Hypercalcemia;Hypercalcemia, infantile, 143880;Infantile hypercalcaemia False 3 100;0;0 16.74 True ENSG00000019186 ENSG00000019186 HGNC:2602 DAAM2 gene DAAM2 Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal steroid-resistant nephrotic syndrome MONDO:0044765 33232676 False 3 100;0;0 16.74 False ENSG00000146122 ENSG00000146122 HGNC:18143 DDX59 gene DDX59 Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen;UKGTN;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome V, 174300 29127725;23972372;28711741 False 3 50;0;50 16.74 False ENSG00000118197 ENSG00000118197 HGNC:25360 DGKE gene DGKE NHS GMS;Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Haemolytic uraemic syndrome; aHUS; Hemolytic uremic syndrome, atypical, susceptibility to, 7, 615008; Nephrotic syndrome, type 7, 615008;C3 glomerulopathy; C3G; Immune complex MPGN; IC-MPGN 23274426;23542698;21902819;28526779 False 3 33;33;33 16.74 True ENSG00000153933 ENSG00000153933 HGNC:2852 DGKE gene DGKE Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 7, OMIM:615008 23274426;23542698 False 3 50;50;0 16.74 False ENSG00000153933 ENSG00000153933 HGNC:2852 DGKE gene DGKE NHS GMS;Expert Review Green;UKGTN;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hemolytic uremic syndrome, atypical, susceptibility to, 7 615008 23542698; 25854283 False 3 50;50;0 16.74 False ENSG00000153933 ENSG00000153933 HGNC:2852 DHCR7 gene DHCR7 Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome, 270400;renal agenesis 3812577;10069707;23059950;9678700;31840946 False 3 100;0;0 16.74 False ENSG00000172893 ENSG00000172893 HGNC:2860 DHCR7 gene DHCR7 Expert Review Green;UKGTN Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Smith-Lemli-Opitz syndrome, OMIM:270400 9634533 False 3 33;0;67 16.74 False ENSG00000172893 ENSG00000172893 HGNC:2860 DLC1 gene DLC1 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Childhood and adult SSNS and SRNS 29773874 False 3 100;0;0 16.74 False ENSG00000164741 ENSG00000164741 HGNC:2897 DLG5 gene DLG5 Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal DLG5-associated developmental disorder (monoallelic);DLG5-associated developmental disorder (biallelic) 32631816;17765678 False 3 100;0;0 16.74 False ENSG00000151208 ENSG00000151208 HGNC:2904 DNAJB11 gene DNAJB11 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders 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 16.74 False ENSG00000090520 ENSG00000090520 HGNC:14889 DNAJB11 gene DNAJB11 Expert Review Green;Other Renal superpanel - narrow Renal and urinary tract disorders 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 16.74 False ENSG00000090520 ENSG00000090520 HGNC:14889 DSTYK gene DSTYK Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal hypodysplasia;ureteropelvic junction obstruction;vesicoureteric reflux;CONGENITAL ANOMALIES OF KIDNEY AND URINARY TRACT, CAKUT1;{Congenital anomalies of kidney and urinary tract, susceptibility to}, 610805 False 3 50;0;50 16.74 False ENSG00000133059 ENSG00000133059 HGNC:29043 DYNC2H1 gene DYNC2H1 Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Emory Genetics Laboratory Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 3 with or without polydactyly, OMIM:613091 False 3 0;0;0 16.74 False ENSG00000187240 ENSG00000187240 HGNC:2962 DZIP1L gene DZIP1L Expert Review Green;Expert Review Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease 5, OMIM:617610;polycystic kidney disease 5, MONDO_0033281 28530676;35211789 False 3 100;0;0 16.74 False Other - please provide details in the comments ENSG00000158163 ENSG00000158163 HGNC:26551 EYA1 gene EYA1 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen;UKGTN Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootorenal syndrome 1, with or without cataracts, 113650;Anterior segment anomalies with or without cataract, 113650;Branchiootic syndrome 1, 602588;Otofaciocervical syndrome, 166780;Branchiootorenal Spectrum Disorders False 3 100;0;0 16.74 True ENSG00000104313 ENSG00000104313 HGNC:3519 FAH gene FAH UKGTN;Illumina TruGenome Clinical Sequencing Services;Literature;Emory Genetics Laboratory;Expert Review;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Tyrosinemia, type I 276700" 8723690; 7550234; 27604308 False 3 100;0;0 16.74 False ENSG00000103876 ENSG00000103876 HGNC:3579 FAM20A gene FAM20A Expert Review Green;Expert Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta, type IG (enamel-renal syndrome) 204690 23468644;30394349;28298625;22732358 False 3 100;0;0 16.74 False ENSG00000108950 ENSG00000108950 HGNC:23015 FAM58A gene FAM58A Expert Review Green;Expert list Renal superpanel - narrow 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) STAR syndrome, 300707;Syndactyly, Telecanthus, Anogenital malformations and Renal malformations 28225384;18297069 False 3 100;0;0 16.74 False ENSG00000147382 ENSG00000262919 HGNC:28434 FAT1 gene FAT1 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Glomerulotubular nephropathy 26905694 False 3 100;0;0 16.74 False ENSG00000083857 ENSG00000083857 HGNC:3595 FLCN gene FLCN Expert Review Green;Expert Review;Literature Renal superpanel - narrow Renal and urinary tract disorders 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 16.74 False ENSG00000154803 ENSG00000154803 HGNC:27310 FN1 gene FN1 Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomerulopathy with fibronectin deposits 2, OMIM:601894 18268355;27056061;31419955 False 3 100;0;0 16.74 False ENSG00000115414 ENSG00000115414 HGNC:3778 FRAS1 gene FRAS1 Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Fraser syndrome False 3 100;0;0 16.74 True ENSG00000138759 ENSG00000138759 HGNC:19185 FREM1 gene FREM1 Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bifid nose with or without anorectal and renal anomalies, 608980 PMID: 24700879 False 3 100;0;0 16.74 True ENSG00000164946 ENSG00000164946 HGNC:23399 FREM2 gene FREM2 Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Fraser syndrome False 3 100;0;0 16.74 True ENSG00000150893 ENSG00000150893 HGNC:25396 GANAB gene GANAB Expert Review Green;Expert Review Renal superpanel - narrow Renal and urinary tract disorders 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 16.74 False ENSG00000089597 ENSG00000089597 HGNC:4138 GATA3 gene GATA3 Expert Review Green;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypoparathyroidism, Sensorineural Deafness, and Renal Disease;Hypoparathyroidism, sensorineural deafness, and renal dysplasia, 146255 False 3 100;0;0 16.74 True ENSG00000107485 ENSG00000107485 HGNC:4172 GATM gene GATM NHS GMS;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fanconi renotubular syndrome 1, OMIM:134600 29654216 False 3 100;0;0 16.74 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 GATM gene GATM Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fanconi renotubular syndrome 1, OMIM:134600 29654216 False 3 100;0;0 16.74 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 GLA gene GLA Expert Review Green;NHS GMS Renal superpanel - narrow 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) Fabry disease 301500 2539398;7504405;12786754 False 3 100;0;0 16.74 False ENSG00000102393 ENSG00000102393 HGNC:4296 GLA gene GLA NHS GMS;Expert Review Green;Expert Renal superpanel - narrow 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) 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 16.74 True ENSG00000102393 ENSG00000102393 HGNC:4296 GLI3 gene GLI3 Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pallister-Hall syndrome False 3 100;0;0 16.74 False ENSG00000106571 ENSG00000106571 HGNC:4319 GNA11 gene GNA11 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypocalcemia, autosomal dominant 2 615361 23802536;24823460;23802516 False 3 100;0;0 16.74 False ENSG00000088256 ENSG00000088256 HGNC:4379 GON7 gene GON7 Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome MONDO:0009627 31481669 False 3 50;50;0 16.74 False ENSG00000170270 ENSG00000170270 HGNC:20356 GPC3 gene GPC3 Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Simpson-Golabi-Behmel syndrome, type 1 312870" 29637653;23606591;20301398 False 3 100;0;0 16.74 False ENSG00000147257 ENSG00000147257 HGNC:4451 GREB1L gene GREB1L Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal hypodysplasia/aplasia 3, 617805 29100091;29220675 False 3 100;0;0 16.74 False ENSG00000141449 ENSG00000141449 HGNC:31042 GRHPR gene GRHPR Expert Review Green;Eligibility statement prior genetic testing;Expert;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services;UKGTN Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Primary Hyperoxaluria;Primary Hyperoxaluria Type 2;Hyperoxaluria, primary, type II, 260000;Hyperoxaluria False 3 100;0;0 16.74 True ENSG00000137106 ENSG00000137106 HGNC:4570 GRIP1 gene GRIP1 Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Fraser syndrome;isolated CAKUT PMID: 22510445;24700879;14730302. False 3 100;0;0 16.74 True ENSG00000155974 ENSG00000155974 HGNC:18708 HAAO gene HAAO Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Multiple congenital malformations; VACTERL-like phenotype 27604308; 17334708; 28792876 False 3 0;0;0 16.74 False ENSG00000162882 ENSG00000162882 HGNC:4796 HNF1B gene HNF1B Expert Review Green;Expert list;UKGTN Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic Kidney Disease, Nephronophthisis And Related Disorders 22 Gene Panel False 3 0;0;100 16.74 False ENSG00000108753 ENSG00000275410 HGNC:11630 HNF1B gene HNF1B Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cysts and diabetes syndrome, 137920;Diabetes mellitus, noninsulin-dependent, 125853 19389850 False 3 100;0;0 16.74 False ENSG00000108753 ENSG00000275410 HGNC:11630 HNF1B gene HNF1B Expert Review Green;UKGTN;Literature Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Renal cysts and diabetes syndrome PMID: 11562418; 12012276; 15085338 False 3 100;0;0 16.74 True ENSG00000108753 ENSG00000275410 HGNC:11630 HNF1B gene HNF1B NHS GMS;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cysts and diabetes syndrome MIM 137920;NIDDM MIM 125853 15930087 False 3 100;0;0 16.74 False ENSG00000108753 ENSG00000275410 HGNC:11630 HNF1B gene HNF1B Expert Review Green;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cysts and diabetes syndrome;Diabetes mellitus, noninsulin-dependent False 3 100;0;0 16.74 True ENSG00000108753 ENSG00000275410 HGNC:11630 HNF4A gene HNF4A Expert Review Green;Expert Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026 24285859;25819479 False 3 50;50;0 16.74 False ENSG00000101076 ENSG00000101076 HGNC:5024 HNF4A gene HNF4A Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM:616026 22802087;24285859;30005691;28458902;31875549 False 3 100;0;0 16.74 False ENSG00000101076 ENSG00000101076 HGNC:5024 HOGA1 gene HOGA1 Expert Review Green;Eligibility statement prior genetic testing;Expert;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Primary Hyperoxaluria;Hyperoxaluria, primary, type III, 613616;Hyperoxaluria False 3 100;0;0 16.74 True ENSG00000241935 ENSG00000241935 HGNC:25155 HOXA13 gene HOXA13 Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hand-foot-uterus syndrome, 140000 30649340;28947713;24934387;23376215 False 3 100;0;0 16.74 False ENSG00000106031 ENSG00000106031 HGNC:5102 HPRT1 gene HPRT1 Expert Review Green;Expert Renal superpanel - narrow Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Hyperuricemia, HRPT-related, OMIM:300323;Lesch-Nyhan syndrome, OMIM:300322 31129767;27079129 False 3 100;0;0 16.74 False ENSG00000165704 ENSG00000165704 HGNC:5157 HPSE2 gene HPSE2 Expert Review Green;Expert Review Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Urofacial Syndrome;Congenital bladder disease: dyssynergic, high pressure bladder Daly SB, Urquhart JE, Hilton E, McKenzie EA, Kammerer RA, Lewis M, Kerr B, Stuart H, Donnai D, Long DA, Burgu B, Aydogdu O, Derbent M, Garcia-Minaur S, Reardon W, Gener B, Shalev S, Smith R, Woolf AS, Black GC, Newman WG. Mutations in HPSE2 cause urofacial syndrome. Am J Hum Genet 11:963-969, 2010. False 3 100;0;0 16.74 True ENSG00000172987 ENSG00000172987 HGNC:18374 HYLS1 gene HYLS1 Expert Review Green;Radboud University Medical Center, Nijmegen;Expert list;Emory Genetics Laboratory;UKGTN Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Hydrolethalus syndrome, 236680 26830932 - report in two siblings with Joubert syndrome;19656802 - impairment in ciligenesis;18648327 - Hydrolethalus syndrome;15843405 - Hydrolethalus syndrome False 3 0;0;0 16.74 False ENSG00000198331 ENSG00000198331 HGNC:26558 ICK gene ICK Expert Review Green;Literature;Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Endocrine-cerebroosteodysplasia, OMIM:612651;Endocrine-cerebro-osteodysplasia syndrome, MONDO:0012980 19185282;27069622;27466187 False 3 0;100;0 16.74 False ENSG00000112144 ENSG00000112144 HGNC:21219 IFT122 gene IFT122 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia;Cranioectodermal dysplasia 1, 218330 19000668;24027799;23826986;26792575;24689072;20493458 False 3 0;0;0 16.74 False ENSG00000163913 ENSG00000163913 HGNC:13556 IFT140 gene IFT140 Expert Review Green;Expert Review Renal superpanel - narrow Renal and urinary tract disorders 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 22503633;23418020;29706353;34890546 False 3 100;0;0 16.74 False ENSG00000187535 ENSG00000187535 HGNC:29077 IFT140 gene IFT140 NHS GMS;Expert Review Green;Research;Literature Renal superpanel - narrow Renal and urinary tract disorders 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 22503633;23418020;34890546 False 3 100;0;0 16.74 False ENSG00000187535 ENSG00000187535 HGNC:29077 IFT172 gene IFT172 Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 10 with or without polydactyly, OMIM:615630 25168386;30761183;24488770;24140113 False 3 100;0;0 16.74 False ENSG00000138002 ENSG00000138002 HGNC:30391 IFT27 gene IFT27 Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen;UKGTN Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 19, OMIM:615996 24488770;29704304;30761183 False 3 100;0;0 16.74 False ENSG00000100360 ENSG00000100360 HGNC:18626 IFT43 gene IFT43 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 3, 614099;Sensenbrenner syndrome;Short-rib thoracic dysplasia 18 with polydactyly, 617866 29896747;28400947;26892345;24027799;21378380;22791528 False 3 67;0;33 16.74 False ENSG00000119650 ENSG00000119650 HGNC:29669 INF2 gene INF2 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomerulosclerosis, focal segmental, 5 #613237;Adult onset nephrotic syndrome (+CMT);FSGS;proteinuria;renal failure 20023659;25165188 False 3 100;0;0 16.74 True Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000203485 ENSG00000203485 HGNC:23791 INPP5E gene INPP5E Expert Review Green;Expert list;Other Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Joubert syndrome 1 23386033;26748598 False 3 100;0;0 16.74 False ENSG00000148384 ENSG00000148384 HGNC:21474 INVS gene INVS NHS GMS;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronopthisis 2, infantile MIM 602088 False 3 100;0;0 16.74 False ENSG00000119509 ENSG00000119509 HGNC:17870 INVS gene INVS Expert Review Green;Expert Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease False 3 100;0;0 16.74 True ENSG00000119509 ENSG00000119509 HGNC:17870 INVS gene INVS Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome;Nephronophthisis 2, infantile, 602088;Nephronophthisis 12872123 False 3 0;0;0 16.74 False ENSG00000119509 ENSG00000119509 HGNC:17870 IQCB1 gene IQCB1 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 5, 609254;Senior-Loken syndrome False 3 0;0;0 16.74 False ENSG00000173226 ENSG00000173226 HGNC:28949 ITGA3 gene ITGA3 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital #614748 False 3 0;100;0 16.74 True ENSG00000005884 ENSG00000005884 HGNC:6139 ITGA8 gene ITGA8 Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal hypodysplasia/aplasia 1, 191830 False 3 100;0;0 16.74 True ENSG00000077943 ENSG00000077943 HGNC:6144 ITSN1 gene ITSN1 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Early childhood SSNS 29773874 False 3 100;0;0 16.74 False ENSG00000205726 ENSG00000205726 HGNC:6183 JAG1 gene JAG1 Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome 1, OMIM:118450 22105858;23752887 False 3 100;0;0 16.74 False ENSG00000101384 ENSG00000101384 HGNC:6188 KCNJ1 gene KCNJ1 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypokalaemic alkalosis with hypercalciuria;Type 2 Bartter syndrome;often initial transient hyperkalemia;Bartter syndrome, type 2, 241200 False 3 100;0;0 16.74 True ENSG00000151704 ENSG00000151704 HGNC:6255 KCNJ1 gene KCNJ1 Expert Review Green;Expert;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Antenatal Bartter Syndrome;Bartter syndrome, type 2, 241200;Type 2 Bartter syndrome;often initial transient hyperkalemia False 3 100;0;0 16.74 True ENSG00000151704 ENSG00000151704 HGNC:6255 KCNJ10 gene KCNJ10 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal SESAME/EAST syndrome, 612780 19289823;20807765;20651251;21849804 False 3 100;0;0 16.74 False ENSG00000177807 ENSG00000177807 HGNC:6256 KCNJ16 gene KCNJ16 NHS GMS;Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypokalemic tubulopathy and deafness, OMIM:619406 33811157;33840812 False 3 100;0;0 16.74 False ENSG00000153822 ENSG00000153822 HGNC:6262 KDM6A gene KDM6A Expert Review Green;Expert list Renal superpanel - narrow 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) Kabuki syndrome 2, 300867 23535010 False 3 100;0;0 16.74 False ENSG00000147050 ENSG00000147050 HGNC:12637 KIAA0586 gene KIAA0586 Expert Review Green;Expert list;Other Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 23;Joubert syndrome;Short-rib thoracic dysplasia 14 with polydactyly;Short-rib dysplasia 14 with polydactyly 26096313 False 3 100;0;0 16.74 False ENSG00000100578 ENSG00000100578 HGNC:19960 KIAA0753 gene KIAA0753 Expert Review Green;Literature;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal ?Orofaciodigital syndrome XV 617127;Joubert syndrome;Short-rib skeletal dysplasia 29138412;28220259;26643951 False 3 50;0;50 16.74 False ENSG00000198920 ENSG00000198920 HGNC:29110 KIF7 gene KIF7 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Emory Genetics Laboratory Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 12 200990;Acrocallosal syndrome 200990 21633164 False 3 100;0;0 16.74 False ENSG00000166813 ENSG00000166813 HGNC:30497 KLHL3 gene KLHL3 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pseudohypoaldosteronism, type IID, 614495 22266938;22406640 False 3 100;0;0 16.74 False ENSG00000146021 ENSG00000146021 HGNC:6354 KMT2D gene KMT2D Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Kabuki syndrome 1, 147920 23535010 False 3 100;0;0 16.74 False ENSG00000167548 ENSG00000167548 HGNC:7133 KYNU gene KYNU Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hydroxykynureninuria (Disorders of histidine, tryptophan or lysine metabolism); ?Hydroxykynureninuria, 236800; multiple congenital malformations; VACTERL-like phenotype 27604308; 17334708; 28792876 False 3 0;0;0 16.74 False ENSG00000115919 ENSG00000115919 HGNC:6469 LAGE3 gene LAGE3 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Galloway-Mowat syndrome 2, X-linked #301006 28805828 False 3 100;0;0 16.74 False ENSG00000196976 ENSG00000196976 HGNC:26058 LAMB2 gene LAMB2 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 5, with or without ocular abnormalities #614199;Pierson syndrome #609049 20556798 False 3 100;0;0 16.74 True ENSG00000172037 ENSG00000172037 HGNC:6487 LCAT gene LCAT Expert Review Green;NHS GMS;Expert Review Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Norum disease, OMIM:245900;Norum disease, MONDO:0009515;LCAT DEFICIENCY 21315357;30201532;29535099;22108153;28508023;25657982;9884427 False 3 67;33;0 16.74 False ENSG00000213398 ENSG00000213398 HGNC:6522 LIFR gene LIFR Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT 28334964 False 3 100;0;0 16.74 False ENSG00000113594 ENSG00000113594 HGNC:6597 LMX1B gene LMX1B NHS GMS;Expert Review Green;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nail-patella syndrome #161200;FSGS;proteinuria;kidney failure;isolated glomerulopathy 18414507;2368736;24042019 False 3 100;0;0 16.74 True Other - please provide details in the comments ENSG00000136944 ENSG00000136944 HGNC:6654 LRIG2 gene LRIG2 Expert Review Green;Expert Review Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Urofacial syndrome;Congenital bladder disease: dyssynergic, high pressure bladder. 23313374 False 3 100;0;0 16.74 True ENSG00000198799 ENSG00000198799 HGNC:20889 LRP4 gene LRP4 Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Cenani-Lenz syndactyly syndrome, 212780 20381006;23636941;24924585;26847765 False 3 100;0;0 16.74 False ENSG00000134569 ENSG00000134569 HGNC:6696 LZTFL1 gene LZTFL1 Expert Review Green;Radboud University Medical Center, Nijmegen;Expert list;Emory Genetics Laboratory;UKGTN;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 17, 615994 22510444;27312011;23692385 False 3 0;0;100 16.74 False ENSG00000163818 ENSG00000163818 HGNC:6741 MAGED2 gene MAGED2 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Bartter syndrome, type 5, antenatal, transient, 300971 27120771 False 3 100;0;0 16.74 False ENSG00000102316 ENSG00000102316 HGNC:16353 MAGI2 gene MAGI2 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 15 617609 29773874;27932480 False 3 100;0;0 16.74 False ENSG00000187391 ENSG00000187391 HGNC:18957 MAPKBP1 gene MAPKBP1 Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 20 617271 28089251 False 3 100;0;0 16.74 False ENSG00000137802 ENSG00000137802 HGNC:29536 MAPKBP1 gene MAPKBP1 Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal NEPHRONOPHTHISIS 20 28089251 False 3 100;0;0 16.74 False ENSG00000137802 ENSG00000137802 HGNC:29536 MAPKBP1 gene MAPKBP1 NHS GMS;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronopthisis 20 MIM 6175271 28089251 False 3 100;0;0 16.74 False ENSG00000137802 ENSG00000137802 HGNC:29536 MKKS gene MKKS Eligibility statement prior genetic testing;Expert list;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 6;236700 10802661;10973251;10973238 False 3 100;0;0 16.74 False ENSG00000125863 ENSG00000125863 HGNC:7108 MKS1 gene MKS1 Orphanet;Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal occipital encephalocele;Joubert syndrome;Bardet-Biedl syndrome;Joubert syndrome 28;249000;polydactyly;polycystic kidneys;Meckel-Gruber syndrome;Meckel syndrome;renal fibrosis 26490104;17437276;18327255;24886560;16415886 False 3 67;0;33 16.74 False Other - please provide details in the comments ENSG00000011143 ENSG00000011143 HGNC:7121 MMACHC gene MMACHC Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Methylmalonic aciduria and homocystinuria, cblC type, 277400" 24210589;1593355;11972107;12210350;17874135;29068997;27324188 False 3 50;50;0 16.74 False ENSG00000132763 ENSG00000132763 HGNC:24525 MOCOS gene MOCOS Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Xanthinuria, type II, OMIM:603592 11302742;17368066;14624414;25967871;34356852;32073534;30758870;27919260 False 3 100;0;0 16.74 False ENSG00000075643 ENSG00000075643 HGNC:18234 MT-TF gene MT-TF Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders MITOCHONDRIAL Tubulointerstitial kidney disease;tubulointerstitial nephritis;renal insufficiency;renal failure 28267784;11231339;20142618;23135609 False 3 100;0;0 16.74 False ENSG00000210049 ENSG00000210049 HGNC:7481 MUC1 gene MUC1 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Medullary cystic kidney disease 1 MIM 174000 23396133;29967284;29156055;29520014;23946964 False 3 100;0;0 16.74 False Other - please provide details in the comments ENSG00000185499 ENSG00000185499 HGNC:7508 MYH9 gene MYH9 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epstein syndrome #153650;Fechtner syndrome #153640 12792306;22627578;10973259;24186861 False 3 100;0;0 16.74 True ENSG00000100345 ENSG00000100345 HGNC:7579 MYH9 gene MYH9 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss OMIM:155100 10973259;12792306;22627578 False 3 100;0;0 16.74 True ENSG00000100345 ENSG00000100345 HGNC:7579 MYO1E gene MYO1E NHS GMS;Expert Review Green;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Glomerulosclerosis, focal segmental, 6 #614131 21697813;23595123 False 3 100;0;0 16.74 True ENSG00000157483 ENSG00000157483 HGNC:7599 MYOCD gene MYOCD Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Megabladder, congenital, OMIM:618719;Megabladder, congenital, MONDO:0032879 31513549 False 3 100;0;0 16.74 False ENSG00000141052 ENSG00000141052 HGNC:16067 NADSYN1 gene NADSYN1 Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Vertebral, cardiac, renal, and limb defects syndrome 3 618845 31883644 False 3 100;0;0 16.74 False ENSG00000172890 ENSG00000172890 HGNC:29832 NEK8 gene NEK8 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal-hepatic-pancreatic dysplasia;?Renal-hepatic-pancreatic dysplasia 2, 615415;Nephronophthisis;?Nephronophthisis 9, 613824 18199800;26967905;26862157;26697755;23418306 False 3 67;0;33 16.74 False ENSG00000160602 ENSG00000160602 HGNC:13387 NIPBL gene NIPBL Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Cornelia de Lange syndrome 1 122470 8291540;8291537;16799922;15146186;15146185;15318302 False 3 100;0;0 16.74 False ENSG00000164190 ENSG00000164190 HGNC:28862 NOTCH2 gene NOTCH2 Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Alagille syndrome 2 610205 22105858;16773578;22209762 False 3 100;0;0 16.74 False ENSG00000134250 ENSG00000134250 HGNC:7882 NPHP1 gene NPHP1 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Emory Genetics Laboratory Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 4;Senior-Loken syndrome;256100 Senior-Loken syndrome-1, 266900;609583 Nephronophthisis 1, juvenile;Nephronophthisis 15138899;22982934;15689444;34415307 False 3 100;0;0 16.74 False ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP1 gene NPHP1 Expert Review Green;Expert Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease 34415307 False 3 100;0;0 16.74 True ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP1 gene NPHP1 NHS GMS;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 4 MIM 609583;Senior-Loken syndrome-1 MIM 266900;Nephronopthisis 1, juvenile MIM 256100 34415307 False 3 100;0;0 16.74 False ENSG00000144061 ENSG00000144061 HGNC:7905 NPHP3 gene NPHP3 Expert Review Green;Expert Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease False 3 100;0;0 16.74 True ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP3 gene NPHP3 NHS GMS;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal-hepatic-pancreatic dysplasia 1, MIM 208540;Meckel syndrome 7, MIM 267010;Nephronopthisis 3 MIM 604387 False 3 100;0;0 16.74 False ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP3 gene NPHP3 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal-hepatic-pancreatic dysplasia;Senior-Loken syndrome;Nephronophthisis 3, 604387;Meckel syndrome 7, 267010;Renal-hepatic-pancreatic dysplasia 1, 208540;Nephronophthisis False 3 0;0;0 16.74 False ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP3 gene NPHP3 Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 3, 604387;Renal-hepatic-pancreatic dysplasia 1, 208540;Meckel syndrome 7, 267010;Renal-Hepatic-Pancreatic Dysplasia False 3 100;0;0 16.74 True ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome;Nephronophthisis;Senior-Loken syndrome 4, 606996;Nephronophthisis 4, 606966 False 3 0;0;0 16.74 False ENSG00000131697 ENSG00000131697 HGNC:19104 NPHP4 gene NPHP4 Expert Review Green;Expert Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease False 3 100;0;0 16.74 True ENSG00000131697 ENSG00000131697 HGNC:19104 NPHP4 gene NPHP4 NHS GMS;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 4 MIM 606996;Nephronopthisis 4 MIM 606966 12244321;12205563 False 3 100;0;0 16.74 False ENSG00000131697 ENSG00000131697 HGNC:19104 NPHS1 gene NPHS1 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 1 #602716 False 3 100;0;0 16.74 True ENSG00000161270 ENSG00000161270 HGNC:7908 NPHS2 gene NPHS2 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 2 #600995 False 3 100;0;0 16.74 True ENSG00000116218 ENSG00000116218 HGNC:13394 NR3C2 gene NR3C2 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism type I, autosomal dominant, 177735;Hypertension, early-onset, autosomal dominant, with exacerbation in pregnancy, 605115 no inheritance pattern 9662404;12788847;16972228;16954160;12483305 False 3 100;0;0 16.74 False ENSG00000151623 ENSG00000151623 HGNC:7979 NUP107 gene NUP107 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 11 #616730 26411495;30179222 False 3 100;0;0 16.74 False ENSG00000111581 ENSG00000111581 HGNC:29914 NUP133 gene NUP133 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal ?Galloway-Mowat syndrome 8 618349;Nephrotic syndrome, type 18 618177 30179222;30427554 False 3 100;0;0 16.74 False ENSG00000069248 ENSG00000069248 HGNC:18016 NUP85 gene NUP85 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 17 #618176 30179222 False 3 100;0;0 16.74 False ENSG00000125450 ENSG00000125450 HGNC:8734 NUP93 gene NUP93 NHS GMS;Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome;Nephrotic syndrome, type 12 #616892 26411495;26878725 False 3 100;0;0 16.74 True ENSG00000102900 ENSG00000102900 HGNC:28958 OCRL gene OCRL Expert Review Green;Expert;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Lowe syndrome, OMIM:309000;Dent disease 2, OMIM:300555;As for CLCN5 (Nephrocalcinosis with low molecular weight proteinuria and pregressive CKD) but may include intellectual disability and other features of Lowe syndrome 33517444 False 3 100;0;0 16.74 True ENSG00000122126 ENSG00000122126 HGNC:8108 OCRL gene OCRL Expert Review Green;NHS GMS Renal superpanel - narrow 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) Lowe syndrome, OMIM:309000;Dent disease 2, OMIM:300555 21249396;17384968;27625797 False 3 100;0;0 16.74 False ENSG00000122126 ENSG00000122126 HGNC:8108 OFD1 gene OFD1 Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other Renal superpanel - narrow 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) Joubert syndrome 10;X-linked Joubert syndrome;Orofaciodigital syndrome I 19800048;22353940 False 3 100;0;0 16.74 False ENSG00000046651 ENSG00000046651 HGNC:2567 OSGEP gene OSGEP NHS GMS;Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Galloway-Mowat syndrome 3 617729" 28805828 False 3 100;0;0 16.74 True ENSG00000092094 ENSG00000092094 HGNC:18028 PAX2 gene PAX2 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders 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 16.74 False ENSG00000075891 ENSG00000075891 HGNC:8616 PAX2 gene PAX2 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Glomerulosclerosis, focal segmental, 7 #616002 26571382 False 3 100;0;0 16.74 False ENSG00000075891 ENSG00000075891 HGNC:8616 PAX2 gene PAX2 Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Papillorenal syndrome, 120330;RENAL-COLOBOMA SYNDROME;Papillorenal syndrome;Glomerulosclerosis, focal segmental, 7 False 3 100;0;0 16.74 False ENSG00000075891 ENSG00000075891 HGNC:8616 PBX1 gene PBX1 Expert Review Green;Other Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CAKUT 28566479;28270404 False 3 0;0;100 16.74 True ENSG00000185630 ENSG00000185630 HGNC:8632 PDSS2 gene PDSS2 Expert Review Green;NHS GMS;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 3 #614652;Leigh syndrome 23926186;29032433;25349199;17186472;18437205 False 3 50;50;0 16.74 True ENSG00000164494 ENSG00000164494 HGNC:23041 PHEX gene PHEX Expert Review Green;Literature;Expert list Renal superpanel - narrow 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) Hypophosphatemic rickets, X-linked dominant 307800 31514490;29460029 False 3 100;0;0 16.74 False ENSG00000102174 ENSG00000102174 HGNC:8918 PKD1 gene PKD1 Expert Review Green;Eligibility statement prior genetic testing;Expert;UKGTN;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders 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 16.74 True ENSG00000008710 ENSG00000008710 HGNC:9008 PKD1 gene PKD1 Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen;UKGTN Renal superpanel - narrow Renal and urinary tract disorders 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) 23624871;20558538 False 3 100;0;0 16.74 False ENSG00000008710 ENSG00000008710 HGNC:9008 PKD2 gene PKD2 Expert Review Green;Radboud University Medical Center, Nijmegen;Expert list;Emory Genetics Laboratory;UKGTN Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic kidney disease 2, 613095 False 3 0;0;0 16.74 False ENSG00000118762 ENSG00000118762 HGNC:9009 PKD2 gene PKD2 Expert Review Green;Eligibility statement prior genetic testing;Expert;Emory Genetics Laboratory;UKGTN;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Renal superpanel - narrow Renal and urinary tract disorders 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 16.74 True ENSG00000118762 ENSG00000118762 HGNC:9009 PKHD1 gene PKHD1 Expert Review Green;Radboud University Medical Center, Nijmegen;Expert list;Emory Genetics Laboratory;UKGTN Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Polycystic kidney and hepatic disease, 263200 False 3 0;0;0 16.74 False ENSG00000170927 ENSG00000170927 HGNC:9016 PKHD1 gene PKHD1 Expert Review Green;Eligibility statement prior genetic testing;Expert;UKGTN;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;Emory Genetics Laboratory Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Autosomal Recessive Polycystic Kidney Disease;Polycystic Kidney Disease, Autosomal Recessive;Polycystic kidney and hepatic disease, 263200 False 3 100;0;0 16.74 True ENSG00000170927 ENSG00000170927 HGNC:9016 PLCE1 gene PLCE1 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 3 #610725;Congenital nephrotic syndrome/SRNS 20591883 False 3 100;0;0 16.74 True ENSG00000138193 ENSG00000138193 HGNC:17175 PLVAP gene PLVAP Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Diarrhoea 10, protein-losing enteropathy type, OMIM:618183 29875123;29661969;26207260;31215290 False 3 100;0;0 16.74 False ENSG00000130300 ENSG00000130300 HGNC:13635 PMM2 gene PMM2 Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Congenital disorder of glycosylation, type Ia 212065 9140401 False 3 100;0;0 16.74 False ENSG00000140650 ENSG00000140650 HGNC:9115 PODXL gene PODXL Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital nephrotic syndrome 30523047;29244787;28117080;24048372 False 3 100;0;0 16.74 False ENSG00000128567 ENSG00000128567 HGNC:9171 REN gene REN Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Renal Tubular Dysgenesis;[Hyperproreninemia] False 3 100;0;0 16.74 False ENSG00000143839 ENSG00000143839 HGNC:9958 REN gene REN NHS GMS;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders 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 16.74 False ENSG00000143839 ENSG00000143839 HGNC:9958 REN gene REN Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperuricemic nephropathy, familial juvenile 2, 613092;Renal tubular dysgenesis 267430 AR 22095942;16116425;21036942;17555949;19664745 False 3 100;0;0 16.74 False ENSG00000143839 ENSG00000143839 HGNC:9958 RET gene RET Expert Review Green;Expert list;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Renal superpanel - narrow 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 3 100;0;0 16.74 False ENSG00000165731 ENSG00000165731 HGNC:9967 ROBO1 gene ROBO1 Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Neurooculorenal syndrome, OMIM:620305 35227688 False 3 100;0;0 16.74 False ENSG00000169855 ENSG00000169855 HGNC:10249 ROBO2 gene ROBO2 Expert Review Green;Expert list;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Vesicoureteral reflux 2 610878 27002985;24429398;29194579;31630547;27460642;17357069 False 3 25;0;75 16.74 True ENSG00000185008 ENSG00000185008 HGNC:10250 ROR2 gene ROR2 Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Robinow syndrome, autosomal recessive 268310 15952209;10932187;19640924;18831060 False 3 100;0;0 16.74 False ENSG00000169071 ENSG00000169071 HGNC:10257 RPGRIP1L gene RPGRIP1L Orphanet;Expert Review Green;Expert list;Other Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 7;Meckel syndrome 5;Joubert syndrome;Meckel syndrome;Meckel-Gruber syndrome 17558409;17558407;19574260 False 3 100;0;0 16.74 False ENSG00000103494 ENSG00000103494 HGNC:29168 RRAGD gene RRAGD NHS GMS;Expert Review Green;Other Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hypomagnesaemia;nephrocalcinosis;salt wasting;cardiomyopathy;tubular renal disease-cardiomyopathy syndrome, MONDO:0019130 34607910 False 3 100;0;0 16.74 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000025039 ENSG00000025039 HGNC:19903 RRAGD gene RRAGD NHS GMS;Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hypomagnesaemia;cardiomyopathy;tubular renal disease-cardiomyopathy syndrome, MONDO:0019130 34607910 False 3 100;0;0 16.74 False Other ENSG00000025039 ENSG00000025039 HGNC:19903 SALL1 gene SALL1 Expert Review Green;Eligibility statement prior genetic testing;UKGTN;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Townes-Brocks syndrome, 107480;Townes-Brocks branchiootorenal-like syndrome, 107480;imperforate anus, ear abnormalities, thumb abnormalities False 3 100;0;0 16.74 True ENSG00000103449 ENSG00000103449 HGNC:10524 SARS2 gene SARS2 Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hyperuricemia, pulmonary hypertension, renal failure, and alkalosis, OMIM:613845;Progressive Spastic Paresis 21255763;24034276;27279129 False 3 100;0;0 16.74 False ENSG00000104835 ENSG00000104835 HGNC:17697 SCARB2 gene SCARB2 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Action myoclonus renal failure syndrome;Epilepsy, progressive myoclonic 4, with or without renal failure #254900 22032306 False 3 100;0;0 16.74 True ENSG00000138760 ENSG00000138760 HGNC:1665 SCNN1A gene SCNN1A Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Pseudohypoaldosteronism, type I, 264350;?Liddle syndrom 3, 618126;Bronchiectasis with or without elevated sweat chloride 2 613021 8589714;10586178 False 3 100;0;0 16.74 False ENSG00000111319 ENSG00000111319 HGNC:10599 SCNN1B gene SCNN1B Expert Review Green;NHS GMS;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pseudohypoaldosteronism, type I, 264350 8589714;26807262;31301676;31018202 False 3 100;0;0 16.74 False ENSG00000168447 ENSG00000168447 HGNC:10600 SCNN1G gene SCNN1G Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pseudohypoaldosteronism, type I, 264350 8640238;29582446;7550319;12473862;17634077 False 3 100;0;0 16.74 False ENSG00000166828 ENSG00000166828 HGNC:10602 SDCCAG8 gene SDCCAG8 Orphanet;Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal SENIOR-LOKEN SYNDROME;Bardet-Biedl Syndrome;613615;Senior-Loken syndrome 22190896 False 3 100;0;0 16.74 False ENSG00000054282 ENSG00000054282 HGNC:10671 SEC61A1 gene SEC61A1 NHS GMS;Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted hyporeninaemic hypoaldosteronism;autosomal dominant tubulointerstitial kidney disease 33185949;30586318;27392076;31488840 False 3 100;0;0 16.74 False ENSG00000058262 ENSG00000058262 HGNC:18276 SEC61A1 gene SEC61A1 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial juvenile Hyperuricemic nephropathy-4 , OMIM:617056 27392076;30586318 False 3 100;0;0 16.74 False ENSG00000058262 ENSG00000058262 HGNC:18276 SGPL1 gene SGPL1 NHS GMS;Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Nephrotic syndrome 14 617575" 28181337; 28165339; 28165343 False 3 100;0;0 16.74 False ENSG00000166224 ENSG00000166224 HGNC:10817 SIX5 gene SIX5 Expert Review Green;Radboud University Medical Center, Nijmegen;UKGTN Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootorenal syndrome 2, 610896 False 3 100;0;0 16.74 True ENSG00000177045 ENSG00000177045 HGNC:10891 SLC12A1 gene SLC12A1 Expert Review Green;Expert;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 1, OMIM:601678;Bartter disease type 1, MONDO:0100344 21631963;21189980;20219833;19513753;19096086;18830715;17998760;16807401;8640224;9355073;28095294;32506365 False 3 100;0;0 16.74 True ENSG00000074803 ENSG00000074803 HGNC:10910 SLC12A1 gene SLC12A1 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 1, OMIM:601678;Bartter disease type 1, MONDO:0100344 8640224;32506365;26770037;27103762;8640224;9355073;28095294;32506365 False 3 100;0;0 16.74 True ENSG00000074803 ENSG00000074803 HGNC:10910 SLC12A3 gene SLC12A3 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Gitelman syndrome, OMIM: 263800;Gitelman syndrome, MONDO:0009904 22009145;27604308;26770037;30999883;30847515 False 3 100;0;0 16.74 True ENSG00000070915 ENSG00000070915 HGNC:10912 SLC22A12 gene SLC22A12 Expert Review Green;Expert Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypouricemia, renal, 220150 29486147;29958533;18492088;15912381 False 3 100;0;0 16.74 False ENSG00000197891 ENSG00000197891 HGNC:17989 SLC22A12 gene SLC22A12 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypouricemia, renal, 220150 18492088 False 3 100;0;0 16.74 False ENSG00000197891 ENSG00000197891 HGNC:17989 SLC2A2 gene SLC2A2 Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Fanconi-Bickel syndrome, OMIM:227810 32150856;24175243;24912437 False 3 100;0;0 16.74 False ENSG00000163581 ENSG00000163581 HGNC:11006 SLC2A9 gene SLC2A9 Expert Review Green;Expert Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypouricemia, renal, 2, 612076 19926891;21256783;19026395;21810765;29486147;24940677 False 3 100;0;0 16.74 False ENSG00000109667 ENSG00000109667 HGNC:13446 SLC2A9 gene SLC2A9 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypouricemia, renal, 2, 612076;{Uric acid concentration, serum, QTL 2}, 612076 19026395;19926891;21810765 False 3 100;0;0 16.74 False ENSG00000109667 ENSG00000109667 HGNC:13446 SLC34A1 gene SLC34A1 Expert Review Green;Expert;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Nephrolithiasis/osteoporosis, hypophosphatemic, 1, 612286;Hypophosphatemic Nephrolithiasis/Osteoporosis;Hypophosphatemic Nephrolithiasis/Osteoporosis (recessive);Nephrolithiasis with osteoporosis and hypophosphatemia;Nephrolithiasis with osteoporosis and hypophosphatemia PMID: 26047794;25050900;12324554 False 3 100;0;0 16.74 True ENSG00000131183 ENSG00000131183 HGNC:11019 SLC34A3 gene SLC34A3 NHS GMS;Expert Review Green;Expert;Radboud University Medical Center, Nijmegen;UKGTN Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hypophosphatemic rickets with hypercalciuria, OMIM:241530;HHRH;hereditary hypophosphatemic rickets with hypercalciuria, MONDO:0009431 25296721;26543054;24924704;24700880;16358214;27939817;24700880;17968493 False 3 100;0;0 16.74 False ENSG00000198569 ENSG00000198569 HGNC:20305 SLC3A1 gene SLC3A1 Expert Review Green;Eligibility statement prior genetic testing;Expert Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Cystinuria 220100 False 3 100;0;0 16.74 True ENSG00000138079 ENSG00000138079 HGNC:11025 SLC4A1 gene SLC4A1 Expert Review Green;Eligibility statement prior genetic testing;Expert Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal distal renal tubular acidosis;Renal tubular acidosis, distal, AD, 179800;Renal tubular acidosis, distal, AR 611590 False 3 0;0;0 16.74 True ENSG00000004939 ENSG00000004939 HGNC:11027 SLC4A1 gene SLC4A1 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing;Expert;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Distal Renal Tubular Acidosis, Dominant;Ovalocytosis;Distal renal tubular acidosis;Renal tubular acidosis, distal, AD,179800;Renal tubular acidosis, distal, AR, 611590;Cryohydrocytosis, 185020;Ovalocystois, SA type 166900;Spherocytoisis type 4, 612653;various blood group associations. 9312167;9600966 False 3 100;0;0 16.74 True ENSG00000004939 ENSG00000004939 HGNC:11027 SLC4A4 gene SLC4A4 NHS GMS;Expert Review Green;Expert;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular acidosis, proximal, with ocular abnormalities, 604278;Proximal Renal Tubular Acidosis with Ocular Abnormalities;Proximal Renal Tubular Acidosis with Ocular Abnormalities (recessive). 10545938 False 3 100;0;0 16.74 True ENSG00000080493 ENSG00000080493 HGNC:11030 SLC5A2 gene SLC5A2 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Renal glucosuria, 233100 12436245;21165652;26376857 False 3 100;0;0 16.74 False ENSG00000140675 ENSG00000140675 HGNC:11037 SLC7A9 gene SLC7A9 Expert Review Green;Eligibility statement prior genetic testing;Expert Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Cystinuria 220100 False 3 100;0;0 16.74 True ENSG00000021488 ENSG00000021488 HGNC:11067 SMARCAL1 gene SMARCAL1 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Schimke immunoosseous dysplasia, OMIM:242900 11799392;24589093 False 3 100;0;0 16.74 True ENSG00000138375 ENSG00000138375 HGNC:11102 STRA6 gene STRA6 Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Microphthalmia, syndromic 9, MIM# 601186" 26373900;17503335 False 3 100;0;0 16.74 False ENSG00000137868 ENSG00000137868 HGNC:30650 STRADA gene STRADA Expert Review Green;Other Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Polyhydramnios, megalencephaly, and symptomatic epilepsy, 611087 27170158;17522105;28688840 False 3 50;0;50 16.74 False ENSG00000266173 ENSG00000266173 HGNC:30172 TBC1D1 gene TBC1D1 Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT PMID: 26572137 False 3 100;0;0 16.74 False ENSG00000065882 ENSG00000065882 HGNC:11578 TBC1D8B gene TBC1D8B Expert Review Green;NHS GMS Renal superpanel - narrow 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) Nephrotic syndrome, type 20, OMIM:301028 30661770 False 3 100;0;0 16.74 False ENSG00000133138 ENSG00000133138 HGNC:24715 TBX18 gene TBX18 Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CAKUT;Renal cysts and diabetes;glomerulocystic kidney disease;hypomagneseamia;Congenital anomalies of kidney and urinary tract 2, 143400 26235987 False 3 67;0;33 16.74 False ENSG00000112837 ENSG00000112837 HGNC:11595 TCTN1 gene TCTN1 Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 20301500;22693042;26489806;21725307;26477546;28631893 False 3 100;0;0 16.74 False ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN2 gene TCTN2 Orphanet;Expert Review Green;Expert list;Other Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome;Joubert syndrome 24;Joubert syndrome, Meckel-Gruber syndrome 25118024;21565611 False 3 100;0;0 16.74 False ENSG00000168778 ENSG00000168778 HGNC:25774 TCTN3 gene TCTN3 Expert Review Green;Expert list;Other Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Orofaciodigital syndrome IV;Joubert syndrome 18;Meckel-Gruber;Mohr-Majewski syndrome 25118024;22883145 False 3 100;0;0 16.74 False ENSG00000119977 ENSG00000119977 HGNC:24519 TFAP2A gene TFAP2A Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Branchiooculofacial syndrome, MIM# 113620" 21204207;31160420 False 3 100;0;0 16.74 False ENSG00000137203 ENSG00000137203 HGNC:11742 TMEM107 gene TMEM107 Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 13 617562;?Joubert syndrome 29 617562;Orofaciodigital syndrome XVI 617563 26518474;26123494;22698544;26595381 False 3 0;0;0 16.74 False ENSG00000179029 ENSG00000179029 HGNC:28128 TMEM138 gene TMEM138 Orphanet;Expert Review Green;Expert list;Other Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome with oculorenal defect;Joubert syndrome 16 22282472 False 3 100;0;0 16.74 False ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM216 gene TMEM216 Orphanet;Expert Review Green;Expert list;Other Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome: Meckel-Gruber syndrome;Joubert syndrome with oculorenal defect;Meckel syndrome;Joubert syndrome 2 22282472;20036350;20512146 False 3 100;0;0 16.74 False ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM231 gene TMEM231 Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;Expert list;Other;Emory Genetics Laboratory Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome;Joubert syndrome 20;Joubert syndrome with oculorenal defect;Joubert syndrome 20, 614970;Meckel syndrome 11, 615397 False 3 0;0;0 16.74 False ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Orphanet;Expert Review Green;Expert list;Other Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;Joubert syndrome with oculorenal defect;Joubert syndrome 14 22152675;20301500 False 3 100;0;0 16.74 False ENSG00000155755 ENSG00000155755 HGNC:14432 TMEM260 gene TMEM260 Expert Review Green;PAGE DD-Gene2Phenotype Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Structural heart defects and renal anomalies syndrome, OMIM:617478;Structural heart defects and renal anomalies syndrome, MONDO:0044321 28318500;34612517 False 3 25;75;0 16.74 False ENSG00000070269 ENSG00000070269 HGNC:20185 TMEM67 gene TMEM67 Orphanet;Eligibility statement prior genetic testing;Expert list;Expert Review Green;Other Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome;nephronophthisis;COACH syndrome;Joubert syndrome 6;?Bardet-Biedl syndrome?;Senior-Boichis syndrome;613550;607361;Meckel-Gruber syndrome;Meckel syndrome;610688;Nephronophthisis 11;216360 PMID: 16415887;PMID: 17160906;PMID: 19058225;PMID: 19508969;PMID: 20607301;PMID: 18327255 False 3 67;0;33 16.74 False ENSG00000164953 ENSG00000164953 HGNC:28396 TMEM67 gene TMEM67 NHS GMS;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders 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;Nephronopthisis 11 MIM 613550;Meckel syndrome 3, MIM 607361 False 3 100;0;0 16.74 False ENSG00000164953 ENSG00000164953 HGNC:28396 TMEM67 gene TMEM67 Expert Review Green;Expert Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease False 3 100;0;0 16.74 True ENSG00000164953 ENSG00000164953 HGNC:28396 TNS2 gene TNS2 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal nephrotic syndrome 29773874 False 3 100;0;0 16.74 False ENSG00000111077 ENSG00000111077 HGNC:19737 TP53RK gene TP53RK Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 4 #617730 28805828 False 3 100;0;0 16.74 False ENSG00000172315 ENSG00000172315 HGNC:16197 TPRKB gene TPRKB Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 5, OMIM:617731 28805828;30053862 False 3 50;50;0 16.74 False ENSG00000144034 ENSG00000144034 HGNC:24259 TRAF3IP1 gene TRAF3IP1 Expert Review Green;Orphanet Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Senior-Loken syndrome 9 616629 26487268 False 3 100;0;0 16.74 False ENSG00000204104 ENSG00000204104 HGNC:17861 TRAP1 gene TRAP1 Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal PMID: 24152966 - recessive mutations reported in 2 families with CAKUT, and 3 families with VACTERL. False 3 100;0;0 16.74 True ENSG00000126602 ENSG00000126602 HGNC:16264 TRIM8 gene TRIM8 Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted nephrotic syndrome;epilepsy;Focal segmental glomerulosclerosis and neurodevelopmental syndrome, OMIM:619428 33508234;32531461;32193649;33508234 False 3 100;0;0 16.74 False Other ENSG00000171206 ENSG00000171206 HGNC:15579 TRPC6 gene TRPC6 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomerulosclerosis, focal segmental, 2 #603652;Proteinuria;FSGS;kidney failure;Familial and sporadic SRNS (adult) 15879175 False 3 100;0;0 16.74 True ENSG00000137672 ENSG00000137672 HGNC:12338 TRPM6 gene TRPM6 Expert Review Green;NHS GMS;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 1, intestinal, 602014 12032568;12032570;23942199 False 3 100;0;0 16.74 False ENSG00000119121 ENSG00000119121 HGNC:17995 TSC1 gene TSC1 Expert Review Green;Expert Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted 9242607 False 3 100;0;0 16.74 True ENSG00000165699 ENSG00000165699 HGNC:12362 TSC2 gene TSC2 Expert Review Green;Expert Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 3 100;0;0 16.74 True ENSG00000103197 ENSG00000103197 HGNC:12363 TTC21B gene TTC21B NHS GMS;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronopthisis 12, OMIM:613820 21258341;26940125;34957165;34805047;35289079 False 3 100;0;0 16.74 False ENSG00000123607 ENSG00000123607 HGNC:25660 TTC21B gene TTC21B Expert Review Green;Expert Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease False 3 100;0;0 16.74 True ENSG00000123607 ENSG00000123607 HGNC:25660 TTC21B gene TTC21B Expert Review Green;Orphanet;UKGTN;Expert list;Other;Emory Genetics Laboratory Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 12, 613820;Short-rib thoracic dysplasia 4 with or without polydactyly;Jeune syndrome;Short-rib thoracic dysplasia 4 with or without polydactyly, 613819;Nephronophthisis 21258341;27515926 (functional study in C. elegans);21068128;24876116 (Focal segmental glomerulosclerosis) False 3 100;0;0 16.74 False ENSG00000123607 ENSG00000123607 HGNC:25660 TTC8 gene TTC8 Eligibility statement prior genetic testing;Expert list;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet Biedl syndrome 8 14520415 False 3 100;0;0 16.74 False ENSG00000165533 ENSG00000165533 HGNC:20087 TULP3 gene TULP3 NHS GMS;Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hepatorenocardiac degenerative fibrosis, OMIM:619902 30799239;30799240;35397207;36276950;36460032 False 3 100;0;0 16.74 False ENSG00000078246 ENSG00000078246 HGNC:12425 TXNDC15 gene TXNDC15 Expert Review Green;Expert list;Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal MGS;Meckel-Gruber syndrome 27894351 False 3 0;100;0 16.74 False ENSG00000113621 ENSG00000113621 HGNC:20652 UMOD gene UMOD Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperuricemic nephropathy, familial juvenile 1, 162000;Glomerulocystic kidney disease with hyperuricemia and isosthenuria, 609886;Medullary cystic kidney disease 2, 603860 12471200;12629136;14570709;14569098;16883323;20172860;15983957 False 3 100;0;0 16.74 False ENSG00000169344 ENSG00000169344 HGNC:12559 UMOD gene UMOD Expert Review Green;Expert;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;UKGTN Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Medullary Cystic Kidney Disease 2;Hyperuricemic nephropathy, familial juvenile 1, 162000 False 3 100;0;0 16.74 True ENSG00000169344 ENSG00000169344 HGNC:12559 UMOD gene UMOD NHS GMS;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders 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 16.74 False Other - please provide details in the comments ENSG00000169344 ENSG00000169344 HGNC:12559 VHL gene VHL Expert Review Green;Expert Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 3 100;0;0 16.74 True ENSG00000134086 ENSG00000134086 HGNC:12687 VIPAS39 gene VIPAS39 Expert Review Green;Expert Review Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404 20190753 False 3 100;0;0 16.74 False ENSG00000151445 ENSG00000151445 HGNC:20347 VIPAS39 gene VIPAS39 Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 2, OMIM:613404 20190753 False 3 0;0;0 16.74 False ENSG00000151445 ENSG00000151445 HGNC:20347 VPS33B gene VPS33B Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085 15052268;22753090 False 3 0;0;0 16.74 False ENSG00000184056 ENSG00000184056 HGNC:12712 VPS33B gene VPS33B Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 1, OMIM:208085 8151641;16155421;16896922 False 3 100;0;0 16.74 False ENSG00000184056 ENSG00000184056 HGNC:12712 WBP11 gene WBP11 Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Vertebral, cardiac, tracheoesophageal, renal, and limb defects, OMIM:619227 33276377 False 3 100;0;0 16.74 False ENSG00000084463 ENSG00000084463 HGNC:16461 WDPCP gene WDPCP Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Emory Genetics Laboratory Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 15, 615992;Meckel syndrome;?Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 20671153 False 3 0;0;100 16.74 False ENSG00000143951 ENSG00000143951 HGNC:28027 WDR19 gene WDR19 Expert Review Green;Expert Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ciliopathy genes associated with cystic kidney disease;Nephronophthisis 13, Senior-Loken 24504730, 25726036, 23683095, 22019273 False 3 100;0;0 16.74 True ENSG00000157796 ENSG00000157796 HGNC:18340 WDR19 gene WDR19 NHS GMS;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronopthisis 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 16.74 False ENSG00000157796 ENSG00000157796 HGNC:18340 WDR19 gene WDR19 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Emory Genetics Laboratory Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 13, 614377;?Short-rib thoracic dysplasia 5 with or without polydactyly;Senior-Loken syndrome 8, 616307;Cranioectodermal dysplasia;?Short-rib thoracic dysplasia 5 with or without polydactyly, 614376;Jeune syndrome;Senior-Loken syndrome;?Cranioectodermal dysplasia 4, 614378;Nephronophthisis False 3 0;0;0 16.74 False ENSG00000157796 ENSG00000157796 HGNC:18340 WDR35 gene WDR35 Illumina TruGenome Clinical Sequencing Services;Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Emory Genetics Laboratory Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Cranioectodermal dysplasia 2, 613610;Cranioectodermal dysplasia;Short-rib thoracic dysplasia 7 with or without polydactyly;Short-rib thoracic dysplasia 7 with or without polydactyly, 614091 False 3 0;0;0 16.74 False ENSG00000118965 ENSG00000118965 HGNC:29250 WDR60 gene WDR60 Expert Review Green;Orphanet;Radboud University Medical Center, Nijmegen;UKGTN;Expert list;Other;Expert Review Green Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 8 with or without polydactyly, 615503;Short-rib thoracic dysplasia 8 with or without polydactyly;Jeune syndrome;SHORT-RIB POLYDACTYLY 25492405;23910462;29271569;26874042 False 3 50;0;50 16.74 False ENSG00000126870 ENSG00000126870 HGNC:21862 WDR73 gene WDR73 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 1 #251300 26123727;25466283 False 3 100;0;0 16.74 False ENSG00000177082 ENSG00000177082 HGNC:25928 WNK4 gene WNK4 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism, type IIB, 614491 11498583 False 3 100;0;0 16.74 False ENSG00000126562 ENSG00000126562 HGNC:14544 WT1 gene WT1 NHS GMS;Expert Review Green;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Denys-Drash syndrome #194080;Frasier syndrome #136680;Wilms tumor, type 1 #194070 24402088 False 3 100;0;0 16.74 True ENSG00000184937 ENSG00000184937 HGNC:12796 XDH gene XDH Expert Review Green;Expert Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Xanthinuria, type I, 278300 27604308;9153281 False 3 0;0;0 16.74 False ENSG00000158125 ENSG00000158125 HGNC:12805 XPNPEP3 gene XPNPEP3 NHS GMS;Expert Review Green;Expert Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1 OMIM:613159;nephronophthisis-like nephropathy 1 MONDO:0013163 20179356;32660933 False 3 67;0;33 16.74 True ENSG00000196236 ENSG00000196236 HGNC:28052 XPNPEP3 gene XPNPEP3 NHS GMS;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;Orphanet;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1 OMIM:613159;nephronophthisis-like nephropathy 1 MONDO:0013163 20179356;32660933 False 3 67;0;33 16.74 False ENSG00000196236 ENSG00000196236 HGNC:28052 XPNPEP3 gene XPNPEP3 Expert Review Green;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-like nephropathy 1 OMIM:613159;nephronophthisis-like nephropathy 1 MONDO:0013163 20179356;32660933 False 3 50;50;0 16.74 False ENSG00000196236 ENSG00000196236 HGNC:28052 YRDC gene YRDC Expert Review Green;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome MONDO:0009627 31481669 False 3 50;50;0 16.74 False ENSG00000196449 ENSG00000196449 HGNC:28905 ZIC3 gene ZIC3 Expert Review Green;Expert list Renal superpanel - narrow Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "VACTERL association, X-linked, MIM# 314390" 26294094;20452998 False 3 100;0;0 16.74 False ENSG00000156925 ENSG00000156925 HGNC:12874 ZMYM2 gene ZMYM2 Expert Review Green;Expert Review Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, OMIM:619522 32891193 False 3 100;0;0 16.74 False ENSG00000121741 ENSG00000121741 HGNC:12989 ADAMTS13 gene ADAMTS13 Expert Review Amber;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Thrombotic thrombocytopenic purpura, hereditary, OMIM:274150 9828245;12130486;12640381 False 2 0;100;0 16.74 False ENSG00000160323 ENSG00000160323 HGNC:1366 ADAMTS9 gene ADAMTS9 NHS GMS;Expert Review Amber Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-Related Ciliopathy (no OMIM number yet) 30609407 False 2 0;100;0 16.74 False ENSG00000163638 ENSG00000163638 HGNC:13202 ADAMTS9 gene ADAMTS9 Expert Review Amber;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis-Related Ciliopathy 30609407 False 2 100;0;0 16.74 False ENSG00000163638 ENSG00000163638 HGNC:13202 ANLN gene ANLN NHS GMS;Expert Review Amber;Literature Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown " Focal segmental glomerulosclerosis 8 616032" 24676636;30002222 False 2 0;50;50 16.74 False ENSG00000011426 ENSG00000011426 HGNC:14082 APOL1 gene APOL1 Expert Review Amber;NHS GMS;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal {Focal Segmental Glomerulosclerosis 4, Susceptibility to} OMIM:612551;{End-stage renal disease, nondiabetic, susceptibility to} OMIM:612551 20647424;23766536;33517446 False 2 25;50;25 16.74 True Other ENSG00000100342 ENSG00000100342 HGNC:618 BBIP1 gene BBIP1 Expert Review Amber;Expert list;Radboud University Medical Center, Nijmegen;UKGTN Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 18, 615995 24026985;32055034 False 2 0;100;0 16.74 False ENSG00000214413 ENSG00000214413 HGNC:28093 BMP4 gene BMP4 Expert Review Amber;Expert list Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown CAKUT;renal maldevelopment;congenital renal dysplasia;Congenital Anomaly of the Kidneys and Urinary Tract 30568244;24131739;23641053;19685083;18305125;18233958 False 2 50;0;50 16.74 True ENSG00000125378 ENSG00000125378 HGNC:1071 CD2AP gene CD2AP Expert Review Amber;NHS GMS;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Glomerulosclerosis, focal segmental, 3 #607832 30612599;17713465 False 2 0;100;0 16.74 True ENSG00000198087 ENSG00000198087 HGNC:14258 CENPF gene CENPF Expert Review Amber;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Stromme syndrome, 243605;bilateral renal hypoplasia;Duodenal atresia;Hydronephrosis 25564561;26820108;27300082 False 2 100;0;0 16.74 False ENSG00000117724 ENSG00000117724 HGNC:1857 CEP290 gene CEP290 Expert Review Amber;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 2 100;0;0 16.74 True ENSG00000198707 ENSG00000198707 HGNC:29021 CEP55 gene CEP55 Expert Review Amber;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Meckel-like syndrome;autosomal recessive lethal ciliopathy;renal dysplasia 28295209;30622327;28264986 False 2 0;100;0 16.74 False ENSG00000138180 ENSG00000138180 HGNC:1161 CFHR5 gene CFHR5 Expert Review Amber;NHS GMS;Expert Review;Literature Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nephropathy due to CFHR5 deficiency OMIM:614809 20800271;24067434;23402027 False 2 100;0;0 16.74 True Other - please provide details in the comments ENSG00000134389 ENSG00000134389 HGNC:24668 CFHR5 gene CFHR5 Expert Review Amber;Expert list Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Nephropathy due to CFHR5 deficiency, MIM# 614809" 22622361;20513133;30905589;29500241 False 2 0;100;0 16.74 False ENSG00000134389 ENSG00000134389 HGNC:24668 COL4A4 gene COL4A4 Expert Review Amber;Other Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Cystic kidney disease, MONDO:0002473 31922066 False 2 50;50;0 16.74 False ENSG00000081052 ENSG00000081052 HGNC:2206 DCDC2 gene DCDC2 Expert Review Amber;Orphanet;Expert list;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Neonatal sclerosing cholangitis;Nephronophthisis 19, 616217 25557784;22558177;27319779;27469900;31821705 False 2 0;60;40 16.74 False ENSG00000146038 ENSG00000146038 HGNC:18141 DCDC2 gene DCDC2 NHS GMS;Expert Review Amber Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Sclerosing cholangitis, neonatal MIM 617394;?Deafness, autosomal recessive 66 MIM 610212;Nephronopthisis 19 MIM 616217 25557784 False 2 0;100;0 16.74 False ENSG00000146038 ENSG00000146038 HGNC:18141 EHHADH gene EHHADH Expert Review Amber;NHS GMS;Expert Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted ?Fanconi renotubular syndrome 3, OMIM:615605;L-bifunctional protein deficiency;Metabolic acidosis;Increased amino acids in urine 24401050;27160910 False 2 50;0;50 16.74 True Other - please provide details in the comments ENSG00000113790 ENSG00000113790 HGNC:3247 EMP2 gene EMP2 Expert Review Amber;NHS GMS;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal steroid sensitive nephrotic syndrome;Nephrotic syndrome, type 10 #615861 24814193 False 2 50;25;25 16.74 False ENSG00000213853 ENSG00000213853 HGNC:3334 EXOC3L2 gene EXOC3L2 Expert Review Amber;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Dandy-Walker malformation;renal dysplasia;bone marrow failure 30327448;28749478;27894351 False 2 100;0;0 16.74 False ENSG00000130201 ENSG00000283632 HGNC:30162 FGF20 gene FGF20 Expert Review Amber;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal ?Renal hypodysplasia/aplasia 2, 615721 22698282;23112089 False 2 0;100;0 16.74 False ENSG00000078579 ENSG00000078579 HGNC:3677 FOXI1 gene FOXI1 NHS GMS;Expert Review Amber;Literature;Expert Review Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal deafness;renal tubular acidosis;Early onset sensorinerual deafness and distal renal tubular acidosis (no OMIM number);Enlarged vestibular aqueducts, 6007910 29242249 False 2 50;50;0 16.74 False ENSG00000168269 ENSG00000168269 HGNC:3815 FXYD2 gene FXYD2 Expert Review Amber;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypomagnesemia 2, renal, 154020 11062458;25765846 False 2 100;0;0 16.74 False ENSG00000137731 ENSG00000137731 HGNC:4026 GLIS2 gene GLIS2 NHS GMS;Expert Review Amber Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronopthisis 7 MIM 611498 False 2 0;100;0 16.74 False ENSG00000126603 ENSG00000126603 HGNC:29450 GLIS2 gene GLIS2 Illumina TruGenome Clinical Sequencing Services;Orphanet;Radboud University Medical Center, Nijmegen;Expert Review Amber;UKGTN;Expert list;Emory Genetics Laboratory Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis;NPHP;Nephronophthisis 7, 611498 26374130;23559409;17618285;18227149 False 2 0;0;100 16.74 False ENSG00000126603 ENSG00000126603 HGNC:29450 GNAS gene GNAS Expert Review Amber;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Unexplained hyponatremia in infancy, severe early-onset gonadotrophin-independent precocious puberty and skeletal abnormalities. 30312418 False 2 0;100;0 16.74 False ENSG00000087460 ENSG00000087460 HGNC:4392 HS2ST1 gene HS2ST1 Expert Review Amber;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Intellectual disability;dysmorphic features;congenital anomalies 33159882 False 2 0;100;0 16.74 False ENSG00000153936 ENSG00000153936 HGNC:5193 KANK2 gene KANK2 Expert Review Amber;NHS GMS;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Early-Childhood-Onset Steroid-Resistant Nephrotic Syndrome;Nephrotic syndrome 16 #617783 25961457 False 2 50;50;0 16.74 True ENSG00000197256 ENSG00000197256 HGNC:29300 KIF14 gene KIF14 Expert Review Amber;Orphanet;Expert list;Radboud University Medical Center, Nijmegen;Other Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 12, OMIM:616258;Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome, MONDO:0014552 24128419 False 2 33;67;0 16.74 False ENSG00000118193 ENSG00000118193 HGNC:19181 KIRREL1 gene KIRREL1 Expert Review Amber;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal steroid-resistant nephrotic syndrome MONDO:0044765 31472902 False 2 0;100;0 16.74 False ENSG00000183853 ENSG00000183853 HGNC:15734 LAMA5 gene LAMA5 Expert Review Amber;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome 29534211 False 2 0;50;50 16.74 False ENSG00000130702 ENSG00000130702 HGNC:6485 NEK1 gene NEK1 Expert Review Amber;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520" 21211617;22499340;25492405;28123176 False 2 50;50;0 16.74 False ENSG00000137601 ENSG00000137601 HGNC:7744 NEK8 gene NEK8 Expert Review Amber;Expert Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted polycystic kidney disease, MONDO:0020642;?Nephronophthisis 9, OMIM:613824 18199800;37598857 False 2 100;0;0 16.74 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 NOS1AP gene NOS1AP Expert Review Amber;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 22, OMIM:619155 33523862 False 2 100;0;0 16.74 False ENSG00000198929 ENSG00000198929 HGNC:16859 PDIA6 gene PDIA6 Expert Review Amber;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Asphyxiating thoracic dystrophy (ATD) syndrome and infantile onset diabetes 33495992 False 2 0;100;0 16.74 False ENSG00000143870 ENSG00000143870 HGNC:30168 PRKCSH gene PRKCSH Expert Review Amber;Expert Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease 1 with or without kidney cysts, OMIM:174050 12529853;12577059;24886261 False 2 100;0;0 16.74 True ENSG00000130175 ENSG00000130175 HGNC:9411 PTPRO gene PTPRO Expert Review Amber;NHS GMS;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders Nephrotic syndrome, type 6 #614196 21722858;30065916 False 2 33;67;0 16.74 True ENSG00000151490 ENSG00000151490 HGNC:9678 RMND1 gene RMND1 Expert Review Amber;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 11, OMIM:614922;tubulopathy;renal tubular acidosis;interstitial nephritis;end-stage renal disease;tubular atrophy 32911714;31889854;31568715 False 2 100;0;0 16.74 False Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments ENSG00000155906 ENSG00000155906 HGNC:21176 SALL4 gene SALL4 Expert Review Amber;Literature Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Duane-radial ray syndrome, 607323 PMID: 20301547 False 2 0;0;0 16.74 False ENSG00000101115 ENSG00000101115 HGNC:15924 SCLT1 gene SCLT1 Expert Review Amber;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome type IX;Senior-Loken syndrome 28486600;30425282;30237576;28005958;24285566 False 2 0;100;0 16.74 False ENSG00000151466 ENSG00000151466 HGNC:26406 SEC61A1 gene SEC61A1 Expert list;Expert Review Amber;Expert Review Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown glomerulocystic kidney disease;interstitial nephritis;chronic kidney disease;cystic kidney disease;Hyperuricemic nephropathy, familial juvenile, 4, 617056 31488840;27392076 False 2 50;50;0 16.74 False ENSG00000058262 ENSG00000058262 HGNC:18276 SEC63 gene SEC63 Expert Review Amber;Expert Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease 2 with or without kidney cysts, OMIM:617004 15133510;24886261 False 2 100;0;0 16.74 True ENSG00000025796 ENSG00000025796 HGNC:21082 SLC9A3R1 gene SLC9A3R1 Expert Review Amber;Expert;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 False 2 100;0;0 16.74 True ENSG00000109062 ENSG00000109062 HGNC:11075 SLIT2 gene SLIT2 Expert Review Amber;Expert list Renal superpanel - narrow Renal and urinary tract disorders 26026792 False 2 50;0;50 16.74 True ENSG00000145147 ENSG00000145147 HGNC:11086 WDR72 gene WDR72 Expert Review Amber;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal distal renal tubular acidosis, MONDO:0015827;Amelogenesis imperfecta, type IIA3, OMIM:613211;amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181 30028003;30779877;31959358;33033857 False 2 100;0;0 16.74 False ENSG00000166415 ENSG00000166415 HGNC:26790 WDR72 gene WDR72 Expert Review Amber;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal distal RTA;hereditary distal renal tubular acidosis;distal renal tubular acidosis, MONDO:0015827;Amelogenesis imperfecta, type IIA3, OMIM:613211;amelogenesis imperfecta hypomaturation type 2A3, MONDO:0013181 30028003;30779877;31959358;33033857 False 2 100;0;0 16.74 False ENSG00000166415 ENSG00000166415 HGNC:26790 WNK1 gene WNK1 Expert Review Amber;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism, type IIC, OMIM:614492 11498583 False 2 100;0;0 16.74 False ENSG00000060237 ENSG00000060237 HGNC:14540 WNT5A gene WNT5A Expert Review Amber;Expert list Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Robinow syndrome, autosomal dominant 1, MIM#180700 27002738;31032853 False 2 100;0;0 16.74 False ENSG00000114251 ENSG00000114251 HGNC:12784 ZNF423 gene ZNF423 Expert Review Amber;Expert Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 19, OMIM:614844;Nephronophthisis 14, OMIM:614844 22863007;32925911;33323469 False 2 0;100;0 16.74 True ENSG00000102935 ENSG00000102935 HGNC:16762 ZNF423 gene ZNF423 Orphanet;Radboud University Medical Center, Nijmegen;Expert Review Amber;Expert list;Other;Emory Genetics Laboratory Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 19, OMIM:614844;Nephronophthisis 14, OMIM:614844 22863007;32925911;33323469 False 2 0;50;50 16.74 False ENSG00000102935 ENSG00000102935 HGNC:16762 ZNF423 gene ZNF423 Expert Review Amber;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Joubert syndrome 19, OMIM:614844;Nephronophthisis 14, OMIM:614844 22863007 False 2 100;0;0 16.74 False ENSG00000102935 ENSG00000102935 HGNC:16762 ABCG2 gene ABCG2 NHS GMS Renal superpanel - narrow Renal and urinary tract disorders Unknown Serum uric acid concentration and susceptibility to gout, 138900 False 1 0;0;100 16.74 False ENSG00000118777 ENSG00000118777 HGNC:74 ACTA2 gene ACTA2 Expert Review Red;Expert Review Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multi system smooth muscle dysfunction False 1 100;0;0 16.74 False ENSG00000107796 ENSG00000107796 HGNC:130 ADCY10 gene ADCY10 Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown PMID: 24907563 (review) False 1 50;0;50 16.74 True ENSG00000143199 ENSG00000143199 HGNC:21285 AGK gene AGK Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders Hyperoxaluria, primary, type 1, 259900 False 1 0;0;100 16.74 True ENSG00000006530 ENSG00000006530 HGNC:21869 AHI1 gene AHI1 Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 16.74 True ENSG00000135541 ENSG00000135541 HGNC:21575 ALG1 gene ALG1 NHS GMS;Expert Review Red;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders Congenital disorder of glycosylation, type Ik #608540 27325525 False 1 0;100;0 16.74 True ENSG00000033011 ENSG00000033011 HGNC:18294 ALMS1 gene ALMS1 NHS GMS;Expert Review Red;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders Alstrom Syndrome #203800 25846608 False 1 0;100;0 16.74 True ENSG00000116127 ENSG00000116127 HGNC:428 ANKFY1 gene ANKFY1 NHS GMS Renal superpanel - narrow Renal and urinary tract disorders 29959197 False 1 0;0;100 16.74 False ENSG00000185722 ENSG00000185722 HGNC:20763 AP2S1 gene AP2S1 Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - narrow 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 16.74 True ENSG00000042753 ENSG00000042753 HGNC:565 ARHGAP24 gene ARHGAP24 NHS GMS;Expert Review Red;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders Focal segmental glomerulosclerosis 21911940 False 1 0;50;50 16.74 True ENSG00000138639 ENSG00000138639 HGNC:25361 ARL13B gene ARL13B Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;100 16.74 True ENSG00000169379 ENSG00000169379 HGNC:25419 ARL6 gene ARL6 Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 16.74 True ENSG00000113966 ENSG00000113966 HGNC:13210 ARMC9 gene ARMC9 Expert Review Red;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30, OMIM:617622 28625504 False 1 50;0;50 16.74 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 - narrow 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 16.74 False ENSG00000108641 ENSG00000108641 HGNC:24123 BBS1 gene BBS1 Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 16.74 True ENSG00000174483 ENSG00000174483 HGNC:966 BBS10 gene BBS10 Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 16.74 True ENSG00000179941 ENSG00000179941 HGNC:26291 BBS12 gene BBS12 Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 16.74 True ENSG00000181004 ENSG00000181004 HGNC:26648 BBS2 gene BBS2 Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 16.74 True ENSG00000125124 ENSG00000125124 HGNC:967 BBS4 gene BBS4 Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 16.74 True ENSG00000140463 ENSG00000140463 HGNC:969 BBS5 gene BBS5 Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 16.74 True ENSG00000163093 ENSG00000163093 HGNC:970 BBS9 gene BBS9 Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 16.74 True ENSG00000122507 ENSG00000122507 HGNC:30000 BICC1 gene BICC1 Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders {Renal dysplasia, cystic, susceptibility to}, 601331 False 1 0;0;100 16.74 True ENSG00000122870 ENSG00000122870 HGNC:19351 BMP7 gene BMP7 Expert Review Red;Expert list Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT 24429398;7590254 False 1 0;0;100 16.74 False ENSG00000101144 ENSG00000101144 HGNC:1074 BSND gene BSND Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - narrow 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 16.74 True ENSG00000162399 ENSG00000162399 HGNC:16512 C5orf42 gene C5orf42 Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 16.74 True ENSG00000197603 ENSG00000197603 HGNC:25801 C8orf37 gene C8orf37 Expert Review Red;Other Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 21, 617406 26854863;27008867 False 1 0;0;0 16.74 False ENSG00000156172 ENSG00000156172 HGNC:27232 CC2D2A gene CC2D2A Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 16.74 True ENSG00000048342 ENSG00000048342 HGNC:29253 CCDC28B gene CCDC28B UKGTN;Expert Review Red;Expert list;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal ciliopathies;{Bardet-Biedl syndrome 1, modifier of}, 209900 23015189 False 1 0;100;0 16.74 False ENSG00000160050 ENSG00000160050 HGNC:28163 CCDC28B gene CCDC28B Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;100;0 16.74 True ENSG00000160050 ENSG00000160050 HGNC:28163 CD46 gene CD46 Expert Review Red;Expert list Renal superpanel - narrow 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 0;0;100 16.74 False ENSG00000117335 ENSG00000117335 HGNC:6953 CDK20 gene CDK20 NHS GMS Renal superpanel - narrow Renal and urinary tract disorders Chronic kidney disease 29773874 False 1 0;0;100 16.74 False ENSG00000156345 ENSG00000156345 HGNC:21420 CEP41 gene CEP41 Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 16.74 True ENSG00000106477 ENSG00000106477 HGNC:12370 CFHR4 gene CFHR4 Other Renal superpanel - narrow Renal and urinary tract disorders Unknown Age related macular degeneration;Atypical hemolytic uremic syndrome susceptibility 19861685;23830046;28822440 False 1 0;0;100 16.74 False ENSG00000134365 ENSG00000134365 HGNC:16979 CHD1L gene CHD1L Expert Review Red;Other Renal superpanel - narrow 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 16.74 False ENSG00000131778 ENSG00000131778 HGNC:1916 CLCN5 gene CLCN5 Expert Review Red;NHS GMS Renal superpanel - narrow 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) Dent disease, 300009. Hypophosphatemic rickets, 300554. Nephrolithiasis, type I, 310468. Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, 308990 False 1 100;0;0 16.74 False ENSG00000171365 ENSG00000171365 HGNC:2023 CLCNKA gene CLCNKA Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - narrow 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 16.74 True ENSG00000186510 ENSG00000186510 HGNC:2026 CLCNKA gene CLCNKA Expert Review Red;NHS GMS Renal superpanel - narrow 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 16.74 False ENSG00000186510 ENSG00000186510 HGNC:2026 COL4A1 gene COL4A1 NHS GMS Renal superpanel - narrow Renal and urinary tract disorders Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps #611773 27190376 False 1 0;0;100 16.74 False ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A5 gene COL4A5 Expert Review Red;Other Renal superpanel - narrow 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 False 1 100;0;0 16.74 False ENSG00000188153 ENSG00000188153 HGNC:2207 COL4A6 gene COL4A6 NHS GMS;Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - narrow 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 16.74 True ENSG00000197565 ENSG00000197565 HGNC:2208 COQ7 gene COQ7 NHS GMS Renal superpanel - narrow Renal and urinary tract disorders ?Coenzyme Q10 deficiency, primary, 8 #616733 26084283 False 1 0;0;100 16.74 False ENSG00000167186 ENSG00000167186 HGNC:2244 COQ9 gene COQ9 NHS GMS Renal superpanel - narrow Renal and urinary tract disorders Coenzyme Q10 deficiency, primary, 5 #614654 19375058 False 1 0;0;100 16.74 False ENSG00000088682 ENSG00000088682 HGNC:25302 COX10 gene COX10 Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - narrow 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 16.74 True ENSG00000006695 ENSG00000006695 HGNC:2260 CYP11B2 gene CYP11B2 NHS GMS;Expert Review Red;Eligibility statement prior genetic testing Renal superpanel - narrow 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 16.74 True ENSG00000179142 ENSG00000179142 HGNC:2592 DACT1 gene DACT1 Other;Literature Renal superpanel - narrow 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 16.74 False ENSG00000165617 ENSG00000165617 HGNC:17748 DHFR gene DHFR NHS GMS;Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - narrow 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 16.74 True ENSG00000228716 ENSG00000228716 HGNC:2861 DKC1 gene DKC1 Expert Review Red;Literature Renal superpanel - narrow 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 16.74 False ENSG00000130826 ENSG00000130826 HGNC:2890 DLG3 gene DLG3 Expert Review Red;Expert list Renal superpanel - narrow Renal and urinary tract disorders False 1 0;100;0 16.74 True ENSG00000082458 ENSG00000082458 HGNC:2902 E2F3 gene E2F3 NHS GMS;Expert Review Red;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders FSGS;mental retardation 21372519 False 1 0;0;100 16.74 True ENSG00000112242 ENSG00000112242 HGNC:3115 EGF gene EGF NHS GMS Renal superpanel - narrow Renal and urinary tract disorders Hypomagnesemia 4, renal, 611718 17671655 False 1 0;0;100 16.74 False ENSG00000138798 ENSG00000138798 HGNC:3229 EXOC3L2 gene EXOC3L2 Expert Review Red;Expert list;Expert Review Red;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Dandy-Walker malformation;enlarged echogenic kidneys;echogenic kidneys;hydrocephalus;anhydramnios 28749478;27894351 False 1 0;0;100 16.74 False ENSG00000130201 ENSG00000283632 HGNC:30162 EXOC8 gene EXOC8 Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders No OMIM phenotype;Joubert syndrome (Dixon-Salazar (2012) Sci Transl Med 4, 138ra78) 22700954 False 1 0;0;100 16.74 False ENSG00000116903 ENSG00000116903 HGNC:24659 FGF23 gene FGF23 Expert list Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 100;0;0 16.74 False ENSG00000118972 ENSG00000118972 HGNC:3680 FOXC1 gene FOXC1 Expert Review Red;Expert list Renal superpanel - narrow Renal and urinary tract disorders False 1 0;50;50 16.74 True ENSG00000054598 ENSG00000054598 HGNC:3800 FOXC2 gene FOXC2 Expert Review Red;Expert list Renal superpanel - narrow Renal and urinary tract disorders False 1 0;0;100 16.74 True ENSG00000176692 ENSG00000176692 HGNC:3801 FOXD2 gene FOXD2 Other Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal False 1 0;0;0 16.74 False ENSG00000186564 ENSG00000186564 HGNC:3803 GAPVD1 gene GAPVD1 NHS GMS Renal superpanel - narrow Renal and urinary tract disorders 29959197 False 1 0;100;0 16.74 False ENSG00000165219 ENSG00000165219 HGNC:23375 GDNF gene GDNF Expert Review Red;Expert list Renal superpanel - narrow Renal and urinary tract disorders False 1 0;0;100 16.74 True ENSG00000168621 ENSG00000168621 HGNC:4232 GIF gene GIF NHS GMS;Expert Review Red;Imerslund-Grasbeck syndrome eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders GIF mutations may phenocopy this disorder; (originally on the Imerslund-Grasbeck syndrome gene panel) False 1 0;0;100 16.74 True ENSG00000134812 ENSG00000134812 HGNC:4268 GLIS2 gene GLIS2 Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 16.74 True ENSG00000126603 ENSG00000126603 HGNC:29450 GNA11 gene GNA11 Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders Hypocalciuric hypercalcemia, type II, 145981 False 1 0;0;100 16.74 False ENSG00000088256 ENSG00000088256 HGNC:4379 GREM1 gene GREM1 Expert Review Red;Expert list Renal superpanel - narrow Renal and urinary tract disorders False 1 0;0;100 16.74 True ENSG00000166923 ENSG00000166923 HGNC:2001 HCN3 gene HCN3 Expert Review Red;Expert list Renal superpanel - narrow Renal and urinary tract disorders False 1 0;0;100 16.74 True ENSG00000143630 ENSG00000143630 HGNC:19183 IFT74 gene IFT74 Expert Review Red;Other Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal ?Bardet-Biedl syndrome 20, 617119 27486776 False 1 0;0;100 16.74 False ENSG00000096872 ENSG00000096872 HGNC:21424 IL1RAP gene IL1RAP Expert Review Red;Literature Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Steroid-sensitive nephrotic syndrome 31954058 False 1 0;0;100 16.74 False ENSG00000196083 ENSG00000196083 HGNC:5995 INF2 gene INF2 NHS GMS Renal superpanel - narrow 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 16.74 False ENSG00000203485 ENSG00000203485 HGNC:23791 INPP5E gene INPP5E Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 16.74 True ENSG00000148384 ENSG00000148384 HGNC:21474 IQCB1 gene IQCB1 Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 16.74 True ENSG00000173226 ENSG00000173226 HGNC:28949 ISL1 gene ISL1 Literature Renal superpanel - narrow Renal and urinary tract disorders Unknown CAKUT 23641053 False 1 0;0;100 16.74 False ENSG00000016082 ENSG00000016082 HGNC:6132 ITGB4 gene ITGB4 NHS GMS;Expert Review Red;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders Epidermolysis bullosa, junctional, with pyloric stenosis #226730 11328943 False 1 0;100;0 16.74 True ENSG00000132470 ENSG00000132470 HGNC:6158 ITSN2 gene ITSN2 NHS GMS Renal superpanel - narrow Renal and urinary tract disorders Early childhood SSNS 29773874 False 1 0;100;0 16.74 False ENSG00000198399 ENSG00000198399 HGNC:6184 KANK1 gene KANK1 NHS GMS Renal superpanel - narrow Renal and urinary tract disorders Steroid sensitive resistant nephrotic syndrome 25961457 False 1 0;0;100 16.74 False ENSG00000107104 ENSG00000107104 HGNC:19309 KANK4 gene KANK4 NHS GMS Renal superpanel - narrow Renal and urinary tract disorders 25961457 False 1 0;0;100 16.74 False ENSG00000132854 ENSG00000132854 HGNC:27263 KCNA1 gene KCNA1 NHS GMS Renal superpanel - narrow Renal and urinary tract disorders Autosomal dominant hypomagnesemia;Episodic ataxia/myokymia syndrome,160120 19307729 False 1 0;0;100 16.74 False ENSG00000111262 ENSG00000111262 HGNC:6218 KIAA0556 gene KIAA0556 Expert Review Red;Other Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal ?Joubert syndrome 26 29765138;27245168;26714646 False 1 0;0;0 16.74 False ENSG00000047578 ENSG00000047578 HGNC:29068 KIF7 gene KIF7 Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;100 16.74 True ENSG00000166813 ENSG00000166813 HGNC:30497 KIT gene KIT Expert Review Red;Expert list Renal superpanel - narrow Renal and urinary tract disorders False 1 0;0;100 16.74 True ENSG00000157404 ENSG00000157404 HGNC:6342 LMNA gene LMNA NHS GMS Renal superpanel - narrow Renal and urinary tract disorders Partial lipodystrophy and FSGS 24080738;28620495 False 1 0;100;0 16.74 False ENSG00000160789 ENSG00000160789 HGNC:6636 MAFB gene MAFB NHS GMS Renal superpanel - narrow Renal and urinary tract disorders FSGS with Duane retraction syndrome 29779709;22387013 False 1 0;100;0 16.74 False ENSG00000204103 ENSG00000204103 HGNC:6408 MED28 gene MED28 NHS GMS Renal superpanel - narrow Renal and urinary tract disorders False 1 0;0;100 16.74 False ENSG00000118579 ENSG00000118579 HGNC:24628 MEFV gene MEFV NHS GMS Renal superpanel - narrow Renal and urinary tract disorders Familial Mediterranean fever, AD, OMIM:134610;Familial Mediterranean fever, AR, OMIM:249100 False 1 0;100;0 16.74 False ENSG00000103313 ENSG00000103313 HGNC:6998 MKS1 gene MKS1 Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 16.74 True ENSG00000011143 ENSG00000011143 HGNC:7121 MTR gene MTR NHS GMS;Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - narrow 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 16.74 True ENSG00000116984 ENSG00000116984 HGNC:7468 MTRR gene MTRR NHS GMS;Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - narrow 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 16.74 True ENSG00000124275 ENSG00000124275 HGNC:7473 MUC1 gene MUC1 Expert Review Red;Expert list;UKGTN Renal superpanel - narrow 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 16.74 False ENSG00000185499 ENSG00000185499 HGNC:7508 MUC1 gene MUC1 Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders Medullary cystic kidney disease 1, 174000 False 1 100;0;0 16.74 False ENSG00000185499 ENSG00000185499 HGNC:7508 MUC1 gene MUC1 Expert Review Red;Expert;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Medullary cystic kidney disease 1, 174000 False 1 100;0;0 16.74 True ENSG00000185499 ENSG00000185499 HGNC:7508 MYH11 gene MYH11 Expert Review Red;Expert Review Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Megacystis-microcolon-intestinal hypoperistalsis syndrome False 1 0;0;100 16.74 True ENSG00000133392 ENSG00000133392 HGNC:7569 NEIL1 gene NEIL1 NHS GMS Renal superpanel - narrow Renal and urinary tract disorders SRNS 21697813 False 1 0;0;100 16.74 False ENSG00000140398 ENSG00000140398 HGNC:18448 NEK8 gene NEK8 Expert Review Red;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal ?Nephronopthisis 9 MIM 613824 False 1 0;0;100 16.74 False ENSG00000160602 ENSG00000160602 HGNC:13387 NEK8 gene NEK8 Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal ?Nephronophthisis 9, 613824?Renal-hepatic-pancreatic dysplasia 2, 615415 False 1 0;0;100 16.74 True ENSG00000160602 ENSG00000160602 HGNC:13387 NEU1 gene NEU1 NHS GMS Renal superpanel - narrow Renal and urinary tract disorders SRNS 30450471 False 1 0;0;100 16.74 False ENSG00000204386 ENSG00000204386 HGNC:7758 NLRP3 gene NLRP3 NHS GMS Renal superpanel - narrow 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 16.74 False ENSG00000162711 ENSG00000162711 HGNC:16400 NOP10 gene NOP10 Expert Review Red;Literature Renal superpanel - narrow 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 16.74 False ENSG00000182117 ENSG00000182117 HGNC:14378 NPHP4 gene NPHP4 NHS GMS Renal superpanel - narrow Renal and urinary tract disorders Nephronophthisis 4 #606966 17954299;26346198 False 1 0;100;0 16.74 False ENSG00000131697 ENSG00000131697 HGNC:19104 NPHS2 gene NPHS2 NHS GMS;Expert Review Red;UKGTN Renal superpanel - narrow 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 16.74 True ENSG00000116218 ENSG00000116218 HGNC:13394 NUP160 gene NUP160 NHS GMS Renal superpanel - narrow Renal and urinary tract disorders ?Nephrotic syndrome, type 19 #618178 30179222 False 1 0;100;0 16.74 False ENSG00000030066 ENSG00000030066 HGNC:18017 NUP205 gene NUP205 NHS GMS Renal superpanel - narrow Renal and urinary tract disorders ?Nephrotic syndrome, type 13 #616893 26878725 False 1 0;100;0 16.74 False ENSG00000155561 ENSG00000155561 HGNC:18658 NXF5 gene NXF5 NHS GMS Renal superpanel - narrow Renal and urinary tract disorders FSGS;heart-block disorder 23686279 False 1 0;0;100 16.74 False ENSG00000126952 ENSG00000126952 HGNC:8075 OCRL gene OCRL Expert Review Red;UKGTN Renal superpanel - narrow Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females False 1 50;0;50 16.74 False ENSG00000122126 ENSG00000122126 HGNC:8108 OCRL gene OCRL Expert Review Red;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Dent disease 2, 300555. Lowe syndrome, 309000 10364518 False 1 100;0;0 16.74 False ENSG00000122126 ENSG00000122126 HGNC:8108 OFD1 gene OFD1 Expert Review Red;Expert Renal superpanel - narrow 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) False 1 100;0;0 16.74 True ENSG00000046651 ENSG00000046651 HGNC:2567 PDE6D gene PDE6D Expert Review Red;Expert list;Radboud University Medical Center, Nijmegen;Other;UKGTN Renal superpanel - narrow 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 16.74 False ENSG00000156973 ENSG00000156973 HGNC:8788 PIBF1 gene PIBF1 Expert Review Red;Expert Review;Literature;Research Renal superpanel - narrow 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 16.74 False ENSG00000083535 ENSG00000083535 HGNC:23352 PMM2 gene PMM2 NHS GMS;Expert Review Red;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders Congenital disorder of glycosylation, type Ia #212065 19474279;29229467 False 1 0;100;0 16.74 True ENSG00000140650 ENSG00000140650 HGNC:9115 RPGRIP1L gene RPGRIP1L Expert Review Red;UKGTN Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal False 1 50;0;50 16.74 False ENSG00000103494 ENSG00000103494 HGNC:29168 RPGRIP1L gene RPGRIP1L Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 16.74 True ENSG00000103494 ENSG00000103494 HGNC:29168 RRM2B gene RRM2B Expert Review Red;Radboud University Medical Center, Nijmegen;UKGTN Renal superpanel - narrow 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 16.74 True ENSG00000048392 ENSG00000048392 HGNC:17296 SDCCAG8 gene SDCCAG8 Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 16.74 True ENSG00000054282 ENSG00000054282 HGNC:10671 SEC63 gene SEC63 Expert Review Red;Expert list;UKGTN Renal superpanel - narrow 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 16.74 False ENSG00000025796 ENSG00000025796 HGNC:21082 SHH gene SHH Expert Review Red;Expert list Renal superpanel - narrow Renal and urinary tract disorders False 1 0;0;100 16.74 True ENSG00000164690 ENSG00000164690 HGNC:10848 SIX1 gene SIX1 Expert Review Red;Illumina TruGenome Clinical Sequencing Services Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Branchiootorenal Spectrum Disorders False 1 100;0;0 16.74 False ENSG00000126778 ENSG00000126778 HGNC:10887 SLC19A2 gene SLC19A2 NHS GMS;Expert Review Red;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Thiamine-Responsive Megaloblastic Anemia;Thiamine-responsive megaloblastic anemia syndrome, 249270; (originally on the Imerslund-Grasbeck syndrome gene panel) False 1 0;0;100 16.74 True ENSG00000117479 ENSG00000117479 HGNC:10938 SLC19A3 gene SLC19A3 NHS GMS;Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - narrow 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 16.74 True ENSG00000135917 ENSG00000135917 HGNC:16266 SLC26A1 gene SLC26A1 Expert Review Red;Expert list Renal superpanel - narrow 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 16.74 False ENSG00000145217 ENSG00000145217 HGNC:10993 SLC26A6 gene SLC26A6 Literature Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Enteric hyperoxaluria and nephrolithiasis 35115415 False 1 0;0;0 16.74 False ENSG00000225697 ENSG00000225697 HGNC:14472 SLC34A1 gene SLC34A1 Expert Review Red;NHS GMS Renal superpanel - narrow 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 16.74 False ENSG00000131183 ENSG00000131183 HGNC:11019 SLC34A3 gene SLC34A3 Expert Review Red;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypophosphatemic rickets with hypercalciuria, 241530 16358214;16358215;16849419 False 1 100;0;0 16.74 False ENSG00000198569 ENSG00000198569 HGNC:20305 SLC36A2 gene SLC36A2 Expert Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal False 1 0;0;100 16.74 False ENSG00000186335 ENSG00000186335 HGNC:18762 SLC41A1 gene SLC41A1 Expert Review Red;Expert list Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 23661805 False 1 0;0;100 16.74 False ENSG00000133065 ENSG00000133065 HGNC:19429 SLC6A19 gene SLC6A19 Expert Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;0;100 16.74 False ENSG00000174358 ENSG00000174358 HGNC:27960 SLC6A20 gene SLC6A20 Expert Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;0;100 16.74 False ENSG00000163817 ENSG00000163817 HGNC:30927 SLC9A3 gene SLC9A3 Expert Renal superpanel - narrow Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal False 1 0;0;100 16.74 False ENSG00000066230 ENSG00000066230 HGNC:11073 SLC9A3R1 gene SLC9A3R1 Expert Review Red;NHS GMS Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nephrolithiasis/osteoporosis, hypophosphatemic, 2, 612287 18784102;25296721;19073985 False 1 100;0;0 16.74 False ENSG00000109062 ENSG00000109062 HGNC:11075 SMARCA4 gene SMARCA4 Expert Review Red;Expert list Renal superpanel - narrow Renal and urinary tract disorders Unknown False 1 0;0;100 16.74 True ENSG00000127616 ENSG00000127616 HGNC:11100 SOX17 gene SOX17 Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders Vesicoureteral reflux 3, 613674 False 1 0;0;100 16.74 True ENSG00000164736 ENSG00000164736 HGNC:18122 SPRY1 gene SPRY1 Expert Review Red;Expert list Renal superpanel - narrow Renal and urinary tract disorders False 1 0;0;100 16.74 True ENSG00000164056 ENSG00000164056 HGNC:11269 SYNPO gene SYNPO NHS GMS Renal superpanel - narrow Renal and urinary tract disorders Focal segmental glomerulosclerosis;FSGS 19666657 False 1 0;100;0 16.74 False ENSG00000171992 ENSG00000171992 HGNC:30672 TCTN1 gene TCTN1 Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;100;0 16.74 True ENSG00000204852 ENSG00000204852 HGNC:26113 TCTN3 gene TCTN3 Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 16.74 True ENSG00000119977 ENSG00000119977 HGNC:24519 THBD gene THBD NHS GMS;Expert Review Red;Illumina TruGenome Clinical Sequencing Services;Radboud University Medical Center, Nijmegen Renal superpanel - narrow 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 16.74 False ENSG00000178726 ENSG00000178726 HGNC:11784 TMEM138 gene TMEM138 Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 16.74 True ENSG00000149483 ENSG00000149483 HGNC:26944 TMEM216 gene TMEM216 Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 16.74 True ENSG00000187049 ENSG00000187049 HGNC:25018 TMEM231 gene TMEM231 Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 16.74 True ENSG00000205084 ENSG00000205084 HGNC:37234 TMEM237 gene TMEM237 Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 100;0;0 16.74 True ENSG00000155755 ENSG00000155755 HGNC:14432 TNXB gene TNXB Expert list Renal superpanel - narrow Renal and urinary tract disorders False 1 0;0;100 16.74 False ENSG00000168477 ENSG00000168477 HGNC:11976 TRIM32 gene TRIM32 UKGTN;Expert Review Red;Expert list;Emory Genetics Laboratory;Radboud University Medical Center, Nijmegen Renal superpanel - narrow 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 16.74 False ENSG00000119401 ENSG00000119401 HGNC:16380 TRIM32 gene TRIM32 Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;100 16.74 True ENSG00000119401 ENSG00000119401 HGNC:16380 TRPM6 gene TRPM6 Expert Review Red;Illumina TruGenome Clinical Sequencing Services Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia with Secondary Hypocalcemia False 1 0;0;100 16.74 False ENSG00000119121 ENSG00000119121 HGNC:17995 TSHZ3 gene TSHZ3 Expert Review Red;Expert list Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;0;100 16.74 True ENSG00000121297 ENSG00000121297 HGNC:30700 TTC21B gene TTC21B NHS GMS Renal superpanel - narrow Renal and urinary tract disorders Nephronophthisis 12 # 613820 26940125;24876116 False 1 0;100;0 16.74 False ENSG00000123607 ENSG00000123607 HGNC:25660 TTC8 gene TTC8 Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;0;100 16.74 True ENSG00000165533 ENSG00000165533 HGNC:20087 UMOD gene UMOD Expert Review Red;Expert list;Emory Genetics Laboratory;UKGTN Renal superpanel - narrow 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 16.74 False ENSG00000169344 ENSG00000169344 HGNC:12559 UMOD gene UMOD Expert Review Red;Radboud University Medical Center, Nijmegen;Emory Genetics Laboratory;Illumina TruGenome Clinical Sequencing Services Renal superpanel - narrow 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 16.74 False ENSG00000169344 ENSG00000169344 HGNC:12559 UPK2 gene UPK2 Expert Review Red;Expert list Renal superpanel - narrow Renal and urinary tract disorders Other - please specifiy in evaluation comments False 1 0;0;100 16.74 True ENSG00000110375 ENSG00000110375 HGNC:12579 UPK3A gene UPK3A Expert Review Red;Expert list;Illumina TruGenome Clinical Sequencing Services Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Renal Adysplasia False 1 0;0;100 16.74 True ENSG00000100373 ENSG00000100373 HGNC:12580 VDR gene VDR Expert Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;0;100 16.74 False ENSG00000111424 ENSG00000111424 HGNC:12679 VIPAS39 gene VIPAS39 NHS GMS Renal superpanel - narrow Renal and urinary tract disorders Arthrogryposis, renal dysfunction, and cholestasis 2 # 613404 20190753 False 1 0;100;0 16.74 False ENSG00000151445 ENSG00000151445 HGNC:20347 VIPAS39 gene VIPAS39 Expert Review Red;Radboud University Medical Center, Nijmegen Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 2, 613404 False 1 100;0;0 16.74 False ENSG00000151445 ENSG00000151445 HGNC:20347 VPS33B gene VPS33B Expert Review Red;Radboud University Medical Center, Nijmegen;Illumina TruGenome Clinical Sequencing Services;UKGTN Renal superpanel - narrow 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 16.74 True ENSG00000184056 ENSG00000184056 HGNC:12712 VPS33B gene VPS33B NHS GMS Renal superpanel - narrow Renal and urinary tract disorders Arthrogryposis, renal dysfunction, and cholestasis 1 #208085 18853461 False 1 0;100;0 16.74 False ENSG00000184056 ENSG00000184056 HGNC:12712 VTN gene VTN NHS GMS Renal superpanel - narrow Renal and urinary tract disorders Unknown Atypical haemolytic uraemic syndrome;aHUS 30377230 False 1 0;50;50 16.74 False ENSG00000109072 ENSG00000109072 HGNC:12724 WDPCP gene WDPCP Expert Review Red;Expert Renal superpanel - narrow Renal and urinary tract disorders Ciliopathy genes associated with cystic kidney disease False 1 0;100;0 16.74 True ENSG00000143951 ENSG00000143951 HGNC:28027 XPO5 gene XPO5 NHS GMS Renal superpanel - narrow Renal and urinary tract disorders Nephrotic syndrome 26878725 False 1 0;0;100 16.74 False ENSG00000124571 ENSG00000124571 HGNC:17675 XPR1 gene XPR1 Expert Review Red;Expert Review;Literature Renal superpanel - narrow Renal and urinary tract disorders Unknown Fanconi syndrome;hypophosphatamia 27799484 False 1 0;0;100 16.74 False Other ENSG00000143324 ENSG00000143324 HGNC:12827 ZMPSTE24 gene ZMPSTE24 NHS GMS;Expert Review Red;Eligibility statement prior genetic testing Renal superpanel - narrow Renal and urinary tract disorders Mandibuloacral dysplasia with type B lipodystrophy #608612 17152860 False 1 0;100;0 16.74 True ENSG00000084073 ENSG00000084073 HGNC:12877 ZNF365 gene ZNF365 Expert Review Red;Expert Renal superpanel - narrow 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 16.74 True ENSG00000138311 ENSG00000138311 HGNC:18194 ISCA-37405-Loss region Expert Review Green;ClinGen Renal superpanel - narrow Renal and urinary tract disorders 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 16.74 False 2 110104531 110228181 30 60 cnv_loss 2q13 recurrent region (includes NPHP1) Loss ISCA-37405-Loss region Expert Review Green;ClinGen Renal superpanel - narrow Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal 609583;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 8852662;9856524;15138899 False 3 0;0;0 16.74 False 2 110104531 110228181 30 60 cnv_loss 2q13 recurrent region (includes NPHP1) Loss ISCA-37432-Loss region Expert Review Green;ClinGen Renal superpanel - narrow Renal and urinary tract disorders 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 16.74 False 17 36458167 37854616 3 60 cnv_loss 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss ISCA-37432-Loss region Expert Review Green;ClinGen Renal superpanel - narrow Renal and urinary tract disorders 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 16.74 False 17 36458167 37854616 3 60 cnv_loss 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss ISCA-37432-Loss region Expert Review Green;ClinGen Renal superpanel - narrow Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Schizophrenia;Mayer-Rokitansky-Kster-Hauser (MRKH) syndrome in females;delayed development, intellectual disability;614527;RCAD syndrome;utero-vaginal atresia;Chromosome 17q12 deletion syndrome;Autism Spectrum Disorder;global developmental delay;Renal cysts and diabetes syndrome False 3 0;0;0 16.74 False 17 36458167 37854616 3 60 cnv_loss 17q12 recurrent (RCAD syndrome) region (includes HNF1B) Loss