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 CLCN5 gene CLCN5 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Tubulointerstitial disease;Dent disease;Nephropathy of unknown origin;Glomerulopathy;MIM 300009 False 3 0;100;0 0.9 False ENSG00000171365 ENSG00000171365 HGNC:2023 COL4A3 gene COL4A3 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Hypertensive nephropathy;MIM 104200, 203780;Congenital or cystic renal disease;Nephropathy of unknown origin;Glomerulopathy;Thin basement membrane disease;Alport syndrome, autosomal dominant/recessive;141200 False 3 0;100;0 0.9 False ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A4 gene COL4A4 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants BOTH monoallelic and biallelic, autosomal or pseudoautosomal MIM 203780;Hypertensive nephropathy;Congenital or cystic renal disease;Nephropathy of unknown origin;Glomerulopathy;Thin basement membrane disease;Alport syndrome, autosomal dominant/recessive;141200 False 3 0;100;0 0.9 False ENSG00000081052 ENSG00000081052 HGNC:2206 COL4A5 gene COL4A5 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MIM 301050;Congenital or cystic renal disease;Nephropathy of unknown origin;Alport syndrome, X-linked;Glomerulopathy False 3 0;100;0 0.9 False ENSG00000188153 ENSG00000188153 HGNC:2207 CREBBP gene CREBBP Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital or cystic renal disease;Rubinstein-Taybi syndrome 1;Nephropathy of unknown origin;MIM 180849;Glomerulopathy False 3 0;100;0 0.9 False ENSG00000005339 ENSG00000005339 HGNC:2348 DHCR7 gene DHCR7 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal Tubulointerstitial disease;Congenital or cystic renal disease;Nephropathy of unknown origin;MIM 270400;Smith-Lemli-Opitz syndrome False 3 0;100;0 0.9 False ENSG00000172893 ENSG00000172893 HGNC:2860 EYA1 gene EYA1 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital or cystic renal disease;MIM 113650;Branchiootorenal syndrome 1 with or without cataracts False 3 0;100;0 0.9 False ENSG00000104313 ENSG00000104313 HGNC:3519 GLA gene GLA Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Tubulointerstitial disease;Other;Fabry disease;MIM 301500 False 3 0;100;0 0.9 False ENSG00000102393 ENSG00000102393 HGNC:4296 HBB gene HBB Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal Other;Nephropathy of unknown origin;Sickle cell disease;MIM 603903 False 3 0;100;0 0.9 False ENSG00000244734 ENSG00000244734 HGNC:4827 HNF1A gene HNF1A Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MODY type III;Nephropathy of unknown origin;Diabetic nephropathy;MIM 600496 False 3 0;100;0 0.9 False ENSG00000135100 ENSG00000135100 HGNC:11621 INF2 gene INF2 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Glomerulosclerosis focal segmental 5;Nephropathy of unknown origin;Hypertensive nephropathy;Glomerulopathy;MIM 613237 False 3 0;100;0 0.9 False ENSG00000203485 ENSG00000203485 HGNC:23791 NPHP3 gene NPHP3 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal MIM 604387;Nephronophthisis 3;Nephropathy of unknown origin;Glomerulopathy False 3 0;100;0 0.9 False ENSG00000113971 ENSG00000113971 HGNC:7907 NPHP4 gene NPHP4 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal Nephropathy of unknown origin;MIM 606966;Nephronophthisis 4 False 3 0;100;0 0.9 False ENSG00000131697 ENSG00000131697 HGNC:19104 NPHS2 gene NPHS2 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal Nephropathy of unknown origin;Hypertensive nephropathy;Glomerulopathy;Nephrotic syndrome type 2;MIM 600995 False 3 0;100;0 0.9 False ENSG00000116218 ENSG00000116218 HGNC:13394 PAX2 gene PAX2 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIM 616002;Congenital or cystic renal disease;Nephropathy of unknown origin;Glomerulosclerosis focal segmental 7;Glomerulopathy;Papillorenal syndrome;120330 False 3 0;100;0 0.9 False ENSG00000075891 ENSG00000075891 HGNC:8616 PKD1 gene PKD1 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital or cystic renal disease;Nephropathy of unknown origin;Polycystic kidney disease 1;MIM 173900 False 3 0;100;0 0.9 False ENSG00000008710 ENSG00000008710 HGNC:9008 PKD2 gene PKD2 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Polycystic kidney disease 2;Congenital or cystic renal disease;MIM 613095 False 3 0;100;0 0.9 False ENSG00000118762 ENSG00000118762 HGNC:9009 PKHD1 gene PKHD1 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease, autosomal recessive;Congenital or cystic renal disease;Nephropathy of unknown origin;MIM 263200 False 3 0;100;0 0.9 False ENSG00000170927 ENSG00000170927 HGNC:9016 SLC12A3 gene SLC12A3 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal Tubulointerstitial disease;MIM 263800;Glomerulopathy;Gitelman syndrome False 3 0;100;0 0.9 False ENSG00000070915 ENSG00000070915 HGNC:10912 TRPC6 gene TRPC6 Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIM 603965;Nephropathy of unknown origin;Glomerulopathy;Glomerulosclerosis focal segmental 2 False 3 0;100;0 0.9 False ENSG00000137672 ENSG00000137672 HGNC:12338 UMOD gene UMOD Expert review green;Expert Review Green;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tubulointerstitial disease;Hypertensive nephropathy;162000;Congenital or cystic renal disease;603860;Nephropathy of unknown origin;Autosomal dominant tubulointerstitial kidney disease, UMOD-associated;Glomerulopathy;MIM 609886 False 3 0;100;0 0.9 False ENSG00000169344 ENSG00000169344 HGNC:12559 AVP gene AVP Exper review amber;Expert Review Amber;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIM 125700;Congenital or cystic renal disease;Nephropathy of unknown origin;Diabetes insipidus, neurohypophyseal False 2 0;100;0 0.9 False ENSG00000101200 ENSG00000101200 HGNC:894 CRB2 gene CRB2 Exper review amber;Expert Review Amber;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal Focal segmental glomerulosclerosis 9;Glomerulopathy;MIM 616220 False 2 0;100;0 0.9 False ENSG00000148204 ENSG00000148204 HGNC:18688 NF1 gene NF1 Exper review amber;Expert Review Amber;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital or cystic renal disease;MIM 162200;Neurofibromatosis type 1 False 2 0;100;0 0.9 False ENSG00000196712 ENSG00000196712 HGNC:7765 NPHS1 gene NPHS1 Exper review amber;Expert Review Amber;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal MIM 256300;Nephrotic syndrome type 1;Glomerulopathy False 2 0;100;0 0.9 False ENSG00000161270 ENSG00000161270 HGNC:7908 PTPN11 gene PTPN11 Exper review amber;Expert Review Amber;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Noonan syndrome 1;MIM 163950;Nephropathy of unknown origin;Diabetic nephropathy False 2 0;100;0 0.9 False ENSG00000179295 ENSG00000179295 HGNC:9644 SLC3A1 gene SLC3A1 Exper review amber;Expert Review Amber;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal Tubulointerstitial disease;Congenital or cystic renal disease;Hypertensive nephropathy;Cystinuria;MIM 220100 False 2 0;100;0 0.9 False ENSG00000138079 ENSG00000138079 HGNC:11025 ACTG2 gene ACTG2 Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIM 155310;Congenital or cystic renal disease;Visceral myopathy False 1 0;100;0 0.9 False ENSG00000163017 ENSG00000163017 HGNC:145 ANOS1 gene ANOS1 Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) MIM 308700;Glomerulopathy;Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1) False 1 0;100;0 0.9 False ENSG00000011201 ENSG00000011201 HGNC:6211 APOA1 gene APOA1 Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIM 105200;Amyloidosis, renal;Glomerulopathy False 1 0;100;0 0.9 False ENSG00000118137 ENSG00000118137 HGNC:600 ATP6V1B1 gene ATP6V1B1 Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal Tubulointerstitial disease;MIM 267300;Renal tubular acidosis with deafness False 1 0;100;0 0.9 False ENSG00000116039 ENSG00000116039 HGNC:853 CDKN1C gene CDKN1C Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Beckwith-Wiedemann syndrome;MIM 130650;Glomerulopathy False 1 0;100;0 0.9 False ENSG00000129757 ENSG00000129757 HGNC:1786 COL11A1 gene COL11A1 Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Stickler syndrome type II;Congenital or cystic renal disease;MIM 604841 False 1 0;100;0 0.9 False ENSG00000060718 ENSG00000060718 HGNC:2186 FANCB gene FANCB Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Congenital or cystic renal disease;Fanconi anemia complementation group B;MIM 300514 False 1 0;100;0 0.9 False ENSG00000181544 ENSG00000181544 HGNC:3583 FGFR2 gene FGFR2 Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nephropathy of unknown origin;MIM 101600;Pfeiffer syndrome False 1 0;100;0 0.9 False ENSG00000066468 ENSG00000066468 HGNC:3689 HNF1B gene HNF1B Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital or cystic renal disease;MIM 137920;Renal cysts and diabetes syndrome False 1 0;100;0 0.9 False ENSG00000108753 ENSG00000275410 HGNC:11630 HNF4A gene HNF4A Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MODY type I;Nephropathy of unknown origin;MIM 125850 False 1 0;100;0 0.9 False ENSG00000101076 ENSG00000101076 HGNC:5024 IQCB1 gene IQCB1 Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal Congenital or cystic renal disease;MIM 609254;Senior-Loken syndrome 5 False 1 0;100;0 0.9 False ENSG00000173226 ENSG00000173226 HGNC:28949 JAG1 gene JAG1 Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital or cystic renal disease;Alagille syndrome 1;MIM 118450 False 1 0;100;0 0.9 False ENSG00000101384 ENSG00000101384 HGNC:6188 KANSL1 gene KANSL1 Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Koolen-De Vries syndrome;Congenital or cystic renal disease;MIM 610443 False 1 0;100;0 0.9 False ENSG00000120071 ENSG00000120071 HGNC:24565 KLHL3 gene KLHL3 Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Other;MIM 614495;Pseudohypoaldosteronism type IID False 1 0;100;0 0.9 False ENSG00000146021 ENSG00000146021 HGNC:6354 KRAS gene KRAS Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIM 609942;Glomerulopathy;Noonan syndrome 3 False 1 0;100;0 0.9 False ENSG00000133703 ENSG00000133703 HGNC:6407 LMX1B gene LMX1B Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Nail-patella syndrome;MIM 161200;Glomerulopathy False 1 0;100;0 0.9 False ENSG00000136944 ENSG00000136944 HGNC:6654 LRIG2 gene LRIG2 Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal Congenital or cystic renal disease;MIM 615112;Urofacial syndrome 2 False 1 0;100;0 0.9 False ENSG00000198799 ENSG00000198799 HGNC:20889 MC4R gene MC4R Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Obesity autosomal dominant;Nephropathy of unknown origin;MIM 601665 False 1 0;100;0 0.9 False ENSG00000166603 ENSG00000166603 HGNC:6932 MKKS gene MKKS Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal MIM 605231;Nephropathy of unknown origin;Bardet-Biedl syndrome 6 False 1 0;100;0 0.9 False ENSG00000125863 ENSG00000125863 HGNC:7108 MYCN gene MYCN Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIM 164280;Diabetic nephropathy;Feingold syndrome 1 False 1 0;100;0 0.9 False ENSG00000134323 ENSG00000134323 HGNC:7559 MYH9 gene MYH9 Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Fechtner syndrome;Epstein syndrome;Nephropathy of unknown origin;153640;MIM 153650 False 1 0;100;0 0.9 False ENSG00000100345 ENSG00000100345 HGNC:7579 OCRL gene OCRL Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Nephropathy of unknown origin;MIM 300555;Dent disease 2 False 1 0;100;0 0.9 False ENSG00000122126 ENSG00000122126 HGNC:8108 PLCE1 gene PLCE1 Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal MIM 610725;Glomerulopathy;Nephrotic syndrome type 3 False 1 0;100;0 0.9 False ENSG00000138193 ENSG00000138193 HGNC:17175 REN gene REN Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tubulointerstitial disease;MIM 613092;Autosomal dominant tubulointerstitial kidney disease, REN-associated False 1 0;100;0 0.9 False ENSG00000143839 ENSG00000143839 HGNC:9958 RERE gene RERE Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital or cystic renal disease;MIM 616975;Neurodevelopmental disorder with or without anomalies of the brain, eye, or heart False 1 0;100;0 0.9 False ENSG00000142599 ENSG00000142599 HGNC:9965 ROBO2 gene ROBO2 Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital or cystic renal disease;Vesicoureteral reflux 2;MIM 610878 False 1 0;100;0 0.9 False ENSG00000185008 ENSG00000185008 HGNC:10250 SALL1 gene SALL1 Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Townes-Brocks syndrome 1;Glomerulopathy;MIM 107480 False 1 0;100;0 0.9 False ENSG00000103449 ENSG00000103449 HGNC:10524 SEC61A1 gene SEC61A1 Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital or cystic renal disease;MIM 617056;Hyperuricemic nephropathy familial juvenile 4 False 1 0;100;0 0.9 False ENSG00000058262 ENSG00000058262 HGNC:18276 SLC16A12 gene SLC16A12 Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tubulointerstitial disease;MIM 612018;Cataract 47 juvenile with microcornea False 1 0;100;0 0.9 False ENSG00000152779 ENSG00000152779 HGNC:23094 SLC26A1 gene SLC26A1 Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal MIM 167030;Nephropathy of unknown origin;Nephrolithiasis calcium oxalate False 1 0;100;0 0.9 False ENSG00000145217 ENSG00000145217 HGNC:10993 SLC34A3 gene SLC34A3 Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal MIM 241530;Nephropathy of unknown origin;Hypophosphatemic rickets with hypercalciuria False 1 0;100;0 0.9 False ENSG00000198569 ENSG00000198569 HGNC:20305 SLC4A1 gene SLC4A1 Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tubulointerstitial disease;Renal tubular acidosis distal, autosomal dominant;MIM 179800 False 1 0;100;0 0.9 False ENSG00000004939 ENSG00000004939 HGNC:11027 SLC7A9 gene SLC7A9 Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Tubulointerstitial disease;Cystinuria;MIM 220100 False 1 0;100;0 0.9 False ENSG00000021488 ENSG00000021488 HGNC:11067 SMARCAL1 gene SMARCAL1 Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants BOTH monoallelic and biallelic, autosomal or pseudoautosomal MIM 242900;Schimke immunoosseous dysplasia;Glomerulopathy False 1 0;100;0 0.9 False ENSG00000138375 ENSG00000138375 HGNC:11102 SMC1A gene SMC1A Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Congenital or cystic renal disease;MIM 300590;Cornelia de Lange syndrome 2 False 1 0;100;0 0.9 False ENSG00000072501 ENSG00000072501 HGNC:11111 TSC2 gene TSC2 Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Other;MIM 613254;Tuberous sclerosis 2 False 1 0;100;0 0.9 False ENSG00000103197 ENSG00000103197 HGNC:12363 TTC21B gene TTC21B Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal Nephropathy of unknown origin;Nephronophthisis 12;MIM 613820 False 1 0;100;0 0.9 False ENSG00000123607 ENSG00000123607 HGNC:25660 WDR19 gene WDR19 Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants BIALLELIC, autosomal or pseudoautosomal Congenital or cystic renal disease;MIM 614377;Nephronophthisis 13 False 1 0;100;0 0.9 False ENSG00000157796 ENSG00000157796 HGNC:18340 WT1 gene WT1 Expert review red;Expert Review Red;Literature Groopman et al 2019 - Genes with diagnostic variants MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown MIM 256370;Nephrotic syndrome type 4;Glomerulopathy False 1 0;100;0 0.9 False ENSG00000184937 ENSG00000184937 HGNC:12796