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 ACTN4 gene ACTN4 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 True Other - please provide details in the comments ENSG00000130402 ENSG00000130402 HGNC:166 AMN gene AMN Expert;Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia-1, Norwegian type, OMIM:261100 12590260;26040326 False 3 33;33;33 4.7 True ENSG00000166126 ENSG00000166126 HGNC:14604 APOE gene APOE Expert Review Green;Literature Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lipoprotein glomerulopathy, OMIM:611771 10432380;9176854;18077821;31092271 False 3 100;0;0 4.7 False ENSG00000130203 ENSG00000130203 HGNC:613 ARHGDIA gene ARHGDIA Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 8 #615224 23434736;23867502;30295827 False 3 0;100;0 4.7 True ENSG00000141522 ENSG00000141522 HGNC:678 CD151 gene CD151 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 True ENSG00000177697 ENSG00000177697 HGNC:1630 CLCN5 gene CLCN5 Expert Review Green;NHS GMS;Radboud University Medical Center, Nijmegen Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 True ENSG00000171365 ENSG00000171365 HGNC:2023 COL4A3 gene COL4A3 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 True ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A4 gene COL4A4 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 True ENSG00000081052 ENSG00000081052 HGNC:2206 COL4A5 gene COL4A5 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 True ENSG00000188153 ENSG00000188153 HGNC:2207 COQ2 gene COQ2 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 1, OMIM:607426 17855635;29637272;30180404 False 3 100;0;0 4.7 True ENSG00000173085 ENSG00000173085 HGNC:25223 COQ6 gene COQ6 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 6 #614650 21540551 False 3 50;50;0 4.7 True ENSG00000119723 ENSG00000119723 HGNC:20233 COQ8B gene COQ8B Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 9 #615573 24270420 False 3 100;0;0 4.7 False ENSG00000123815 ENSG00000123815 HGNC:19041 CRB2 gene CRB2 Expert Review Green;Literature;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 False ENSG00000148204 ENSG00000148204 HGNC:18688 CUBN gene CUBN Expert;Expert Review Green;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 True ENSG00000107611 ENSG00000107611 HGNC:2548 DAAM2 gene DAAM2 Expert Review Green;Literature Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal steroid-resistant nephrotic syndrome MONDO:0044765 33232676 False 3 100;0;0 4.7 False ENSG00000146122 ENSG00000146122 HGNC:18143 DGKE gene DGKE Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 7, OMIM:615008 23274426;23542698 False 3 50;50;0 4.7 False ENSG00000153933 ENSG00000153933 HGNC:2852 DLC1 gene DLC1 Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Childhood and adult SSNS and SRNS 29773874 False 3 100;0;0 4.7 False ENSG00000164741 ENSG00000164741 HGNC:2897 FAT1 gene FAT1 Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Glomerulotubular nephropathy 26905694 False 3 100;0;0 4.7 False ENSG00000083857 ENSG00000083857 HGNC:3595 FN1 gene FN1 Expert list;Expert Review Green Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 False ENSG00000115414 ENSG00000115414 HGNC:3778 GLA gene GLA Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 False ENSG00000102393 ENSG00000102393 HGNC:4296 GON7 gene GON7 Expert Review Green;Literature Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome MONDO:0009627 31481669 False 3 50;50;0 4.7 False ENSG00000170270 ENSG00000170270 HGNC:20356 INF2 gene INF2 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 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 ITGA3 gene ITGA3 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital #614748 False 3 0;100;0 4.7 True ENSG00000005884 ENSG00000005884 HGNC:6139 ITSN1 gene ITSN1 Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Early childhood SSNS 29773874 False 3 100;0;0 4.7 False ENSG00000205726 ENSG00000205726 HGNC:6183 LAGE3 gene LAGE3 Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 False ENSG00000196976 ENSG00000196976 HGNC:26058 LAMB2 gene LAMB2 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 True ENSG00000172037 ENSG00000172037 HGNC:6487 LCAT gene LCAT Expert Review;Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 False ENSG00000213398 ENSG00000213398 HGNC:6522 LMX1B gene LMX1B Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 True Other - please provide details in the comments ENSG00000136944 ENSG00000136944 HGNC:6654 MAGI2 gene MAGI2 Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 15 617609 29773874;27932480 False 3 100;0;0 4.7 False ENSG00000187391 ENSG00000187391 HGNC:18957 MYH9 gene MYH9 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 True ENSG00000100345 ENSG00000100345 HGNC:7579 MYO1E gene MYO1E Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Glomerulosclerosis, focal segmental, 6 #614131 21697813;23595123 False 3 100;0;0 4.7 True ENSG00000157483 ENSG00000157483 HGNC:7599 NPHS1 gene NPHS1 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 1 #602716 False 3 100;0;0 4.7 True ENSG00000161270 ENSG00000161270 HGNC:7908 NPHS2 gene NPHS2 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 2 #600995 False 3 100;0;0 4.7 True ENSG00000116218 ENSG00000116218 HGNC:13394 NUP107 gene NUP107 Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 11 #616730 26411495;30179222 False 3 100;0;0 4.7 False ENSG00000111581 ENSG00000111581 HGNC:29914 NUP133 gene NUP133 Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 False ENSG00000069248 ENSG00000069248 HGNC:18016 NUP85 gene NUP85 Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 17 #618176 30179222 False 3 100;0;0 4.7 False ENSG00000125450 ENSG00000125450 HGNC:8734 NUP93 gene NUP93 Expert Review Green;Literature;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 True ENSG00000102900 ENSG00000102900 HGNC:28958 OCRL gene OCRL Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 False ENSG00000122126 ENSG00000122126 HGNC:8108 OSGEP gene OSGEP Expert Review Green;Literature;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Galloway-Mowat syndrome 3 617729" 28805828 False 3 100;0;0 4.7 True ENSG00000092094 ENSG00000092094 HGNC:18028 PAX2 gene PAX2 Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Glomerulosclerosis, focal segmental, 7 #616002 26571382 False 3 100;0;0 4.7 False ENSG00000075891 ENSG00000075891 HGNC:8616 PDSS2 gene PDSS2 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 True ENSG00000164494 ENSG00000164494 HGNC:23041 PLCE1 gene PLCE1 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 3 #610725;Congenital nephrotic syndrome/SRNS 20591883 False 3 100;0;0 4.7 True ENSG00000138193 ENSG00000138193 HGNC:17175 PODXL gene PODXL Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital nephrotic syndrome 30523047;29244787;28117080;24048372 False 3 100;0;0 4.7 False ENSG00000128567 ENSG00000128567 HGNC:9171 SCARB2 gene SCARB2 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 True ENSG00000138760 ENSG00000138760 HGNC:1665 SGPL1 gene SGPL1 Expert Review Green;Literature;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Nephrotic syndrome 14 617575" 28181337; 28165339; 28165343 False 3 100;0;0 4.7 False ENSG00000166224 ENSG00000166224 HGNC:10817 SMARCAL1 gene SMARCAL1 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Schimke immunoosseous dysplasia, OMIM:242900 11799392;24589093 False 3 100;0;0 4.7 True ENSG00000138375 ENSG00000138375 HGNC:11102 TBC1D8B gene TBC1D8B Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 False ENSG00000133138 ENSG00000133138 HGNC:24715 TNS2 gene TNS2 Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal nephrotic syndrome 29773874 False 3 100;0;0 4.7 False ENSG00000111077 ENSG00000111077 HGNC:19737 TP53RK gene TP53RK Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 4 #617730 28805828 False 3 100;0;0 4.7 False ENSG00000172315 ENSG00000172315 HGNC:16197 TPRKB gene TPRKB Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 5, OMIM:617731 28805828;30053862 False 3 50;50;0 4.7 False ENSG00000144034 ENSG00000144034 HGNC:24259 TRIM8 gene TRIM8 Expert Review Green;Literature Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 False Other ENSG00000171206 ENSG00000171206 HGNC:15579 TRPC6 gene TRPC6 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 True ENSG00000137672 ENSG00000137672 HGNC:12338 WDR73 gene WDR73 Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 1 #251300 26123727;25466283 False 3 100;0;0 4.7 False ENSG00000177082 ENSG00000177082 HGNC:25928 WT1 gene WT1 Eligibility statement prior genetic testing;Expert Review Green;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 True ENSG00000184937 ENSG00000184937 HGNC:12796 YRDC gene YRDC Expert Review Green;Literature Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome MONDO:0009627 31481669 False 3 50;50;0 4.7 False ENSG00000196449 ENSG00000196449 HGNC:28905 ANLN gene ANLN Expert Review Amber;Literature;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown " Focal segmental glomerulosclerosis 8 616032" 24676636;30002222 False 2 0;50;50 4.7 False ENSG00000011426 ENSG00000011426 HGNC:14082 APOL1 gene APOL1 Eligibility statement prior genetic testing;Expert Review Amber;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 True Other ENSG00000100342 ENSG00000100342 HGNC:618 CD2AP gene CD2AP Eligibility statement prior genetic testing;Expert Review Amber;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Glomerulosclerosis, focal segmental, 3 #607832 30612599;17713465 False 2 0;100;0 4.7 True ENSG00000198087 ENSG00000198087 HGNC:14258 EMP2 gene EMP2 Expert Review Amber;Literature;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal steroid sensitive nephrotic syndrome;Nephrotic syndrome, type 10 #615861 24814193 False 2 50;25;25 4.7 False ENSG00000213853 ENSG00000213853 HGNC:3334 KANK2 gene KANK2 Expert Review Amber;Literature;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 True ENSG00000197256 ENSG00000197256 HGNC:29300 KIRREL1 gene KIRREL1 Expert Review Amber;Literature Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal steroid-resistant nephrotic syndrome MONDO:0044765 31472902 False 2 0;100;0 4.7 False ENSG00000183853 ENSG00000183853 HGNC:15734 LAMA5 gene LAMA5 Expert Review Amber;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome 29534211 False 2 0;50;50 4.7 False ENSG00000130702 ENSG00000130702 HGNC:6485 NOS1AP gene NOS1AP Expert Review Amber;Literature Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 22, OMIM:619155 33523862 False 2 100;0;0 4.7 False ENSG00000198929 ENSG00000198929 HGNC:16859 PTPRO gene PTPRO Eligibility statement prior genetic testing;Expert Review Amber;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders Nephrotic syndrome, type 6 #614196 21722858;30065916 False 2 33;67;0 4.7 True ENSG00000151490 ENSG00000151490 HGNC:9678 ALG1 gene ALG1 Eligibility statement prior genetic testing;Expert Review Red;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders Congenital disorder of glycosylation, type Ik #608540 27325525 False 1 0;100;0 4.7 True ENSG00000033011 ENSG00000033011 HGNC:18294 ALMS1 gene ALMS1 Eligibility statement prior genetic testing;Expert Review Red;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders Alstrom Syndrome #203800 25846608 False 1 0;100;0 4.7 True ENSG00000116127 ENSG00000116127 HGNC:428 ANKFY1 gene ANKFY1 NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders 29959197 False 1 0;0;100 4.7 False ENSG00000185722 ENSG00000185722 HGNC:20763 ARHGAP24 gene ARHGAP24 Eligibility statement prior genetic testing;Expert Review Red;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders Focal segmental glomerulosclerosis 21911940 False 1 0;50;50 4.7 True ENSG00000138639 ENSG00000138639 HGNC:25361 CDK20 gene CDK20 NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders Chronic kidney disease 29773874 False 1 0;0;100 4.7 False ENSG00000156345 ENSG00000156345 HGNC:21420 COL4A1 gene COL4A1 NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps #611773 27190376 False 1 0;0;100 4.7 False ENSG00000187498 ENSG00000187498 HGNC:2202 COQ7 gene COQ7 NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders ?Coenzyme Q10 deficiency, primary, 8 #616733 26084283 False 1 0;0;100 4.7 False ENSG00000167186 ENSG00000167186 HGNC:2244 COQ9 gene COQ9 NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders Coenzyme Q10 deficiency, primary, 5 #614654 19375058 False 1 0;0;100 4.7 False ENSG00000088682 ENSG00000088682 HGNC:25302 CYP11B2 gene CYP11B2 Eligibility statement prior genetic testing;Expert Review Red;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 True ENSG00000179142 ENSG00000179142 HGNC:2592 DHFR gene DHFR Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 True ENSG00000228716 ENSG00000228716 HGNC:2861 DKC1 gene DKC1 Expert Review Red;Literature Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 False ENSG00000130826 ENSG00000130826 HGNC:2890 E2F3 gene E2F3 Eligibility statement prior genetic testing;Expert Review Red;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders FSGS;mental retardation 21372519 False 1 0;0;100 4.7 True ENSG00000112242 ENSG00000112242 HGNC:3115 GAPVD1 gene GAPVD1 NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders 29959197 False 1 0;100;0 4.7 False ENSG00000165219 ENSG00000165219 HGNC:23375 GIF gene GIF Expert Review Red;Imerslund-Grasbeck syndrome eligibility statement prior genetic testing;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders GIF mutations may phenocopy this disorder; (originally on the Imerslund-Grasbeck syndrome gene panel) False 1 0;0;100 4.7 True ENSG00000134812 ENSG00000134812 HGNC:4268 IL1RAP gene IL1RAP Expert Review Red;Literature Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Steroid-sensitive nephrotic syndrome 31954058 False 1 0;0;100 4.7 False ENSG00000196083 ENSG00000196083 HGNC:5995 ITGB4 gene ITGB4 Eligibility statement prior genetic testing;Expert Review Red;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders Epidermolysis bullosa, junctional, with pyloric stenosis #226730 11328943 False 1 0;100;0 4.7 True ENSG00000132470 ENSG00000132470 HGNC:6158 ITSN2 gene ITSN2 NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders Early childhood SSNS 29773874 False 1 0;100;0 4.7 False ENSG00000198399 ENSG00000198399 HGNC:6184 KANK1 gene KANK1 NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders Steroid sensitive resistant nephrotic syndrome 25961457 False 1 0;0;100 4.7 False ENSG00000107104 ENSG00000107104 HGNC:19309 KANK4 gene KANK4 NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders 25961457 False 1 0;0;100 4.7 False ENSG00000132854 ENSG00000132854 HGNC:27263 LMNA gene LMNA NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders Partial lipodystrophy and FSGS 24080738;28620495 False 1 0;100;0 4.7 False ENSG00000160789 ENSG00000160789 HGNC:6636 MAFB gene MAFB NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders FSGS with Duane retraction syndrome 29779709;22387013 False 1 0;100;0 4.7 False ENSG00000204103 ENSG00000204103 HGNC:6408 MED28 gene MED28 NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders False 1 0;0;100 4.7 False ENSG00000118579 ENSG00000118579 HGNC:24628 MEFV gene MEFV NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders Familial Mediterranean fever, AD, OMIM:134610;Familial Mediterranean fever, AR, OMIM:249100 False 1 0;100;0 4.7 False ENSG00000103313 ENSG00000103313 HGNC:6998 MTR gene MTR Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 True ENSG00000116984 ENSG00000116984 HGNC:7468 MTRR gene MTRR Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 True ENSG00000124275 ENSG00000124275 HGNC:7473 NEIL1 gene NEIL1 NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders SRNS 21697813 False 1 0;0;100 4.7 False ENSG00000140398 ENSG00000140398 HGNC:18448 NEU1 gene NEU1 NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders SRNS 30450471 False 1 0;0;100 4.7 False ENSG00000204386 ENSG00000204386 HGNC:7758 NLRP3 gene NLRP3 NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 False ENSG00000162711 ENSG00000162711 HGNC:16400 NOP10 gene NOP10 Expert Review Red;Literature Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 False ENSG00000182117 ENSG00000182117 HGNC:14378 NPHP4 gene NPHP4 NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders Nephronophthisis 4 #606966 17954299;26346198 False 1 0;100;0 4.7 False ENSG00000131697 ENSG00000131697 HGNC:19104 NUP160 gene NUP160 NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders ?Nephrotic syndrome, type 19 #618178 30179222 False 1 0;100;0 4.7 False ENSG00000030066 ENSG00000030066 HGNC:18017 NUP205 gene NUP205 NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders ?Nephrotic syndrome, type 13 #616893 26878725 False 1 0;100;0 4.7 False ENSG00000155561 ENSG00000155561 HGNC:18658 NXF5 gene NXF5 NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders FSGS;heart-block disorder 23686279 False 1 0;0;100 4.7 False ENSG00000126952 ENSG00000126952 HGNC:8075 PMM2 gene PMM2 Eligibility statement prior genetic testing;Expert Review Red;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders Congenital disorder of glycosylation, type Ia #212065 19474279;29229467 False 1 0;100;0 4.7 True ENSG00000140650 ENSG00000140650 HGNC:9115 SLC19A2 gene SLC19A2 Expert Review Red;Illumina TruGenome Clinical Sequencing Services;NHS GMS;Radboud University Medical Center, Nijmegen;UKGTN Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 True ENSG00000117479 ENSG00000117479 HGNC:10938 SLC19A3 gene SLC19A3 Expert Review Red;NHS GMS;Radboud University Medical Center, Nijmegen Proteinuric renal disease Syndromes with prominent renal abnormalities 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 4.7 True ENSG00000135917 ENSG00000135917 HGNC:16266 SYNPO gene SYNPO NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders Focal segmental glomerulosclerosis;FSGS 19666657 False 1 0;100;0 4.7 False ENSG00000171992 ENSG00000171992 HGNC:30672 TTC21B gene TTC21B NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders Nephronophthisis 12 # 613820 26940125;24876116 False 1 0;100;0 4.7 False ENSG00000123607 ENSG00000123607 HGNC:25660 VIPAS39 gene VIPAS39 NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders Arthrogryposis, renal dysfunction, and cholestasis 2 # 613404 20190753 False 1 0;100;0 4.7 False ENSG00000151445 ENSG00000151445 HGNC:20347 VPS33B gene VPS33B NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders Arthrogryposis, renal dysfunction, and cholestasis 1 #208085 18853461 False 1 0;100;0 4.7 False ENSG00000184056 ENSG00000184056 HGNC:12712 XPO5 gene XPO5 NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders Nephrotic syndrome 26878725 False 1 0;0;100 4.7 False ENSG00000124571 ENSG00000124571 HGNC:17675 ZMPSTE24 gene ZMPSTE24 Eligibility statement prior genetic testing;Expert Review Red;NHS GMS Proteinuric renal disease Syndromes with prominent renal abnormalities Renal and urinary tract disorders Mandibuloacral dysplasia with type B lipodystrophy #608612 17152860 False 1 0;100;0 4.7 True ENSG00000084073 ENSG00000084073 HGNC:12877