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 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