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 Unexplained young onset end-stage renal disease - additional genes Renal BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, OMIM:267430 False 3 75;25;0 1.6 False ENSG00000159640 ENSG00000159640 HGNC:2707 ACTG2 gene ACTG2 Expert Review Green Unexplained young onset end-stage renal disease - additional genes Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Megacystis-microcolon-intestinal hypoperistalsis syndrome 5, OMIM:619431;Visceral myopathy 1, OMIM:155310;Berdon syndrome 25998219 False 3 67;33;0 1.6 False ENSG00000163017 ENSG00000163017 HGNC:145 AGT gene AGT Expert Review Green Unexplained young onset end-stage renal disease - additional genes Renal BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, OMIM:267430 False 3 75;25;0 1.6 False ENSG00000135744 ENSG00000135744 HGNC:333 AGTR1 gene AGTR1 Expert Review Green Unexplained young onset end-stage renal disease - additional genes Renal BIALLELIC, autosomal or pseudoautosomal Renal tubular dysgenesis, OMIM:267430 False 3 75;25;0 1.6 False ENSG00000144891 ENSG00000144891 HGNC:336 ANOS1 gene ANOS1 Expert Review Green Unexplained young onset end-stage renal disease - additional genes Renal X-LINKED: hemizygous mutation in males, biallelic mutations in females Hypogonadotropic hypogonadism 1 with or without anosmia (Kallmann syndrome 1), OMIM:308700 9719154;11531922 False 3 60;20;20 1.6 False ENSG00000011201 ENSG00000011201 HGNC:6211 ARMC9 gene ARMC9 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease - additional genes Renal BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 30, OMIM:617622 28625504 False 3 67;33;0 1.6 False ENSG00000135931 ENSG00000135931 HGNC:20730 BNC2 gene BNC2 Expert Review Green;Other Unexplained young onset end-stage renal disease - additional genes Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lower urinary tract obstruction, congenital, OMIM:618612 31051115 False 3 50;25;25 1.6 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 C3 gene C3 Expert Review Green Unexplained young onset end-stage renal disease - additional genes Renal BOTH monoallelic and biallelic, autosomal or pseudoautosomal C3 deficiency, OMIM:613779;{Hemolytic uremic syndrome, atypical, susceptibility to, 5}, OMIM:612925 15781264;18796626 False 3 50;50;0 1.6 False ENSG00000125730 ENSG00000125730 HGNC:1318 CHD7 gene CHD7 Expert Review Green Unexplained young onset end-stage renal disease - additional genes Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CHARGE syndrome, OMIM:214800 False 3 67;33;0 1.6 False ENSG00000171316 ENSG00000171316 HGNC:20626 CHRM3 gene CHRM3 Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease - additional genes Renal BIALLELIC, autosomal or pseudoautosomal Prune belly syndrome, OMIM:100100;Megacystis;Urinary Bladder Disease 10944224;22077972;31441039 False 3 60;20;20 1.6 False ENSG00000133019 ENSG00000133019 HGNC:1952 DSTYK gene DSTYK Expert Review Green Unexplained young onset end-stage renal disease - additional genes Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital anomalies of kidney and urinary tract 1, OMIM:610805 False 3 60;20;20 1.6 False ENSG00000133059 ENSG00000133059 HGNC:29043 EYA1 gene EYA1 Expert Review Green Unexplained young onset end-stage renal disease - additional genes Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootorenal syndrome 1, with or without cataracts, OMIM:113650 False 3 80;20;0 1.6 False ENSG00000104313 ENSG00000104313 HGNC:3519 FAN1 gene FAN1 Expert Review;Expert Review Green Unexplained young onset end-stage renal disease - additional genes Renal BIALLELIC, autosomal or pseudoautosomal Interstitial nephritis, karyomegalic, OMIM:614817;karyomegalic interstitial nephritis, MONDO:0013898;chronic kidney disease 22772369;35931300 False 3 100;0;0 1.6 False ENSG00000198690 ENSG00000198690 HGNC:29170 FRAS1 gene FRAS1 Expert Review Green Unexplained young onset end-stage renal disease - additional genes Renal BIALLELIC, autosomal or pseudoautosomal Fraser syndrome 1, OMIM:219000 False 3 80;20;0 1.6 False ENSG00000138759 ENSG00000138759 HGNC:19185 FREM1 gene FREM1 Expert Review Green Unexplained young onset end-stage renal disease - additional genes Renal BIALLELIC, autosomal or pseudoautosomal Bifid nose with or without anorectal and renal anomalies, OMIM:608980 24700879 False 3 75;25;0 1.6 False ENSG00000164946 ENSG00000164946 HGNC:23399 FREM2 gene FREM2 Expert Review Green Unexplained young onset end-stage renal disease - additional genes Renal BIALLELIC, autosomal or pseudoautosomal Fraser syndrome 2, OMIM:617666 False 3 75;25;0 1.6 False ENSG00000150893 ENSG00000150893 HGNC:25396 GATA3 gene GATA3 Expert Review Green Unexplained young onset end-stage renal disease - additional genes Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM:146255 False 3 75;25;0 1.6 False ENSG00000107485 ENSG00000107485 HGNC:4172 GLI3 gene GLI3 Expert Review Green Unexplained young onset end-stage renal disease - additional genes Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pallister-Hall syndrome, OMIM:146510 False 3 67;33;0 1.6 False ENSG00000106571 ENSG00000106571 HGNC:4319 GRIP1 gene GRIP1 Expert Review Green Unexplained young onset end-stage renal disease - additional genes Renal BIALLELIC, autosomal or pseudoautosomal Fraser syndrome 3, OMIM:617667 14730302;24357607;24700879;22510445 False 3 67;33;0 1.6 False ENSG00000155974 ENSG00000155974 HGNC:18708 HAAO gene HAAO Expert Review Green Unexplained young onset end-stage renal disease - additional genes Renal BIALLELIC, autosomal or pseudoautosomal Vertebral, cardiac, renal, and limb defects syndrome 1, OMIM:617660 17334708;27604308;28792876 False 3 50;50;0 1.6 False ENSG00000162882 ENSG00000162882 HGNC:4796 HPSE2 gene HPSE2 Expert Review Green Unexplained young onset end-stage renal disease - additional genes Renal BIALLELIC, autosomal or pseudoautosomal Urofacial syndrome 1, OMIM:236730;Congenital bladder disease: dyssynergic, high pressure bladder 20560209;20560210 False 3 75;25;0 1.6 False ENSG00000172987 ENSG00000172987 HGNC:18374 ITGA8 gene ITGA8 Expert Review Green Unexplained young onset end-stage renal disease - additional genes Renal BIALLELIC, autosomal or pseudoautosomal Renal hypodysplasia/aplasia 1, OMIM:191830 False 3 75;25;0 1.6 False ENSG00000077943 ENSG00000077943 HGNC:6144 KYNU gene KYNU Expert Review Green Unexplained young onset end-stage renal disease - additional genes Renal BIALLELIC, autosomal or pseudoautosomal Vertebral, cardiac, renal, and limb defects syndrome 2, OMIM:617661 17334708;27604308;28792876 False 3 50;50;0 1.6 False ENSG00000115919 ENSG00000115919 HGNC:6469 LRIG2 gene LRIG2 Expert Review Green Unexplained young onset end-stage renal disease - additional genes Renal BIALLELIC, autosomal or pseudoautosomal Urofacial syndrome 2, OMIM:615112;Congenital bladder disease: dyssynergic, high pressure bladder 23313374 False 3 75;25;0 1.6 False ENSG00000198799 ENSG00000198799 HGNC:20889 NOS1AP gene NOS1AP Expert Review Green;Literature;NHS GMS Unexplained young onset end-stage renal disease - additional genes Renal BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 22, OMIM:619155 33523862 False 3 100;0;0 1.6 False ENSG00000198929 ENSG00000198929 HGNC:16859 PBX1 gene PBX1 Expert Review Green Unexplained young onset end-stage renal disease - additional genes Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM:617641 28270404;28566479 False 3 33;33;33 1.6 False ENSG00000185630 ENSG00000185630 HGNC:8632 PRDM15 gene PRDM15 Expert Review Green;Literature;NHS GMS Unexplained young onset end-stage renal disease - additional genes Renal BIALLELIC, autosomal or pseudoautosomal steroid-resistant nephrotic syndrome, MONDO:0044765 31950080;33593823 False 3 50;50;0 1.6 False ENSG00000141956 ENSG00000141956 HGNC:13999 RET gene RET Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease - additional genes Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Hirschsprung disease, susceptibility to, 1}, OMIM:142623;Multiple endocrine neoplasia IIA, OMIM:171400;Multiple endocrine neoplasia IIB, OMIM:162300;Pheochromocytoma, OMIM:171300 False 3 75;25;0 1.6 False ENSG00000165731 ENSG00000165731 HGNC:9967 RMND1 gene RMND1 Expert Review Green;Literature;NHS GMS Unexplained young onset end-stage renal disease - additional genes Renal BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 11, OMIM:614922 31568715;31889854;32911714 False 3 100;0;0 1.6 False ENSG00000155906 ENSG00000155906 HGNC:21176 RRM2B gene RRM2B Expert Review Green Unexplained young onset end-stage renal disease - additional genes Renal BIALLELIC, autosomal or pseudoautosomal Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy), OMIM:612075;Mitochondrial DNA depletion syndrome 8B (MNGIE type), OMIM:612075;Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, OMIM:268315 False 3 75;25;0 1.6 False ENSG00000048392 ENSG00000048392 HGNC:17296 SALL1 gene SALL1 Expert Review Green Unexplained young onset end-stage renal disease - additional genes Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Townes-Brocks branchiootorenal-like syndrome, OMIM:107480;Townes-Brocks syndrome 1, OMIM:107480 False 3 75;25;0 1.6 False ENSG00000103449 ENSG00000103449 HGNC:10524 TBX18 gene TBX18 Expert Review Green Unexplained young onset end-stage renal disease - additional genes Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Congenital anomalies of kidney and urinary tract 2, OMIM:143400 26235987 False 3 60;20;20 1.6 False ENSG00000112837 ENSG00000112837 HGNC:11595 TRAP1 gene TRAP1 Expert Review Green Unexplained young onset end-stage renal disease - additional genes Renal BIALLELIC, autosomal or pseudoautosomal CAKUT;VATER/VACTERL ASSOCIATION, OMIM:192350 24152966 False 3 67;33;0 1.6 False ENSG00000126602 ENSG00000126602 HGNC:16264 WDR72 gene WDR72 Expert Review;Expert Review Green;NHS GMS Unexplained young onset end-stage renal disease - additional genes Renal 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 3 100;0;0 1.6 False ENSG00000166415 ENSG00000166415 HGNC:26790 ACTA2 gene ACTA2 Expert Review Red Unexplained young onset end-stage renal disease - additional genes Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Smooth muscle dysfunction syndrome, OMIM:613834 False 1 33;33;33 1.6 False ENSG00000107796 ENSG00000107796 HGNC:130 BICC1 gene BICC1 Expert Review Red Unexplained young onset end-stage renal disease - additional genes Renal Unknown {Renal dysplasia, cystic, susceptibility to}, OMIM:601331 False 1 0;20;80 1.6 False ENSG00000122870 ENSG00000122870 HGNC:19351 BMP4 gene BMP4 Expert Review Red Unexplained young onset end-stage renal disease - additional genes Renal Unknown Microphthalmia, syndromic 6, OMIM:607932 False 1 0;33;67 1.6 False ENSG00000125378 ENSG00000125378 HGNC:1071 CHD1L gene CHD1L Expert Review Red Unexplained young onset end-stage renal disease - additional genes Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown congenital anomaly of kidney and urinary tract, MONDO:0019719 22146311;24429398 False 1 0;50;50 1.6 False ENSG00000131778 ENSG00000131778 HGNC:1916 COX10 gene COX10 Expert Review Red Unexplained young onset end-stage renal disease - additional genes Renal Unknown Mitochondrial complex IV deficiency, nuclear type 3, OMIM:619046 False 1 0;25;75 1.6 False ENSG00000006695 ENSG00000006695 HGNC:2260 DACT1 gene DACT1 Expert Review Red Unexplained young onset end-stage renal disease - additional genes Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Townes-Brocks syndrome 2, OMIM:617466 19701191;22610794;28054444 False 1 0;33;67 1.6 False ENSG00000165617 ENSG00000165617 HGNC:17748 DLG3 gene DLG3 Expert Review Red Unexplained young onset end-stage renal disease - additional genes Renal Unknown False 1 0;67;33 1.6 False ENSG00000082458 ENSG00000082458 HGNC:2902 FOXC1 gene FOXC1 Expert Review Red Unexplained young onset end-stage renal disease - additional genes Renal Unknown False 1 0;33;67 1.6 False ENSG00000054598 ENSG00000054598 HGNC:3800 FOXC2 gene FOXC2 Expert Review Red Unexplained young onset end-stage renal disease - additional genes Renal Unknown False 1 0;33;67 1.6 False ENSG00000176692 ENSG00000176692 HGNC:3801 GDNF gene GDNF Expert Review Red Unexplained young onset end-stage renal disease - additional genes Renal Unknown False 1 0;33;67 1.6 False ENSG00000168621 ENSG00000168621 HGNC:4232 GREM1 gene GREM1 Expert Review Red Unexplained young onset end-stage renal disease - additional genes Renal Unknown False 1 0;33;67 1.6 False ENSG00000166923 ENSG00000166923 HGNC:2001 HCN3 gene HCN3 Expert Review Red Unexplained young onset end-stage renal disease - additional genes Renal Unknown False 1 0;33;67 1.6 False ENSG00000143630 ENSG00000143630 HGNC:19183 KIT gene KIT Expert Review Red Unexplained young onset end-stage renal disease - additional genes Renal Unknown False 1 0;33;67 1.6 False ENSG00000157404 ENSG00000157404 HGNC:6342 MYH11 gene MYH11 Expert Review Red Unexplained young onset end-stage renal disease - additional genes Renal BIALLELIC, autosomal or pseudoautosomal Megacystis-microcolon-intestinal hypoperistalsis syndrome 2, OMIM:619351 False 1 0;33;67 1.6 False ENSG00000133392 ENSG00000133392 HGNC:7569 ROBO2 gene ROBO2 Expert Review Red Unexplained young onset end-stage renal disease - additional genes Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Vesicoureteral reflux 2, OMIM:610878 False 1 0;20;80 1.6 False ENSG00000185008 ENSG00000185008 HGNC:10250 SHH gene SHH Expert Review Red Unexplained young onset end-stage renal disease - additional genes Renal Unknown False 1 0;33;67 1.6 False ENSG00000164690 ENSG00000164690 HGNC:10848 SIX1 gene SIX1 Expert Review Red Unexplained young onset end-stage renal disease - additional genes Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Branchiootic syndrome 3, OMIM:608389;Deafness, autosomal dominant 23, OMIM:605192 False 1 33;33;33 1.6 False ENSG00000126778 ENSG00000126778 HGNC:10887 SIX5 gene SIX5 Expert Review Red;NHS GMS Unexplained young onset end-stage renal disease - additional genes Renal MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootorenal syndrome 2, OMIM:610896 False 1 40;20;40 1.6 False ENSG00000177045 ENSG00000177045 HGNC:10891 SLIT2 gene SLIT2 Expert Review Red Unexplained young onset end-stage renal disease - additional genes Renal Unknown False 1 0;33;67 1.6 False ENSG00000145147 ENSG00000145147 HGNC:11086 SMARCA4 gene SMARCA4 Expert Review Red Unexplained young onset end-stage renal disease - additional genes Renal Unknown False 1 0;33;67 1.6 False ENSG00000127616 ENSG00000127616 HGNC:11100 SOX17 gene SOX17 Expert Review Red Unexplained young onset end-stage renal disease - additional genes Renal Unknown Vesicoureteral reflux 3, OMIM:613674 False 1 0;33;67 1.6 False ENSG00000164736 ENSG00000164736 HGNC:18122 SPRY1 gene SPRY1 Expert Review Red Unexplained young onset end-stage renal disease - additional genes Renal Unknown False 1 0;33;67 1.6 False ENSG00000164056 ENSG00000164056 HGNC:11269 TNXB gene TNXB Expert Review Red Unexplained young onset end-stage renal disease - additional genes Renal Unknown False 1 0;33;67 1.6 False ENSG00000168477 ENSG00000168477 HGNC:11976 TSHZ3 gene TSHZ3 Expert Review Red Unexplained young onset end-stage renal disease - additional genes Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown False 1 0;25;75 1.6 False ENSG00000121297 ENSG00000121297 HGNC:30700 UPK2 gene UPK2 Expert Review Red Unexplained young onset end-stage renal disease - additional genes Renal Other False 1 0;25;75 1.6 False ENSG00000110375 ENSG00000110375 HGNC:12579 UPK3A gene UPK3A Expert Review Red Unexplained young onset end-stage renal disease - additional genes Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Renal Adysplasia False 1 0;25;75 1.6 False ENSG00000100373 ENSG00000100373 HGNC:12580 ISCA-37401-Loss region Expert Review Green Unexplained young onset end-stage renal disease - additional genes Renal MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Wilms tumor, aniridia, genitourinary anomalies and impaired intellectual development syndrome, OMIM:194072 False 3 100;0;0 1.6 False 11 31781961 32489442 3 60 cnv_loss 11p13 (WAGR syndrome) region Loss