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 Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomerulosclerosis, focal segmental, 1, MIM#603278 26740551;22351778;10700177;26301083 False 3 100;0;0 0.229 True ENSG00000130402 ENSG00000130402 HGNC:166 ALMS1 gene ALMS1 Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders Unknown False 3 100;0;0 0.229 False ENSG00000116127 ENSG00000116127 HGNC:428 AMN gene AMN Expert list;Expert Review Green;NHS GMS Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia-1, Norwegian type, MIM#261100 15024727 False 3 100;0;0 0.229 True ENSG00000166126 ENSG00000166126 HGNC:14604 APOE gene APOE Expert list;Expert Review Green Proteinuria Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lipoprotein glomerulopathy, MIM#611771 18077821;28966924;24348079 False 3 100;0;0 0.229 True ENSG00000130203 ENSG00000130203 HGNC:613 ARHGDIA gene ARHGDIA Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders Unknown False 3 100;0;0 0.229 False ENSG00000141522 ENSG00000141522 HGNC:678 CD151 gene CD151 Expert list;Expert Review Green Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057 15265795;29138120 False 3 100;0;0 0.229 True ENSG00000177697 ENSG00000177697 HGNC:1630 CD2AP gene CD2AP Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal focal segmental glomerulosclerosis 3, susceptibility to MONDO:0011917 30612599;17713465;10997929;12764198;15951437 False 3 0;100;0 0.229 True ENSG00000198087 ENSG00000198087 HGNC:14258 CLCN5 gene CLCN5 Expert list;Expert Review Green Proteinuria 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, MIM#300009;Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990 False 3 100;0;0 0.229 True ENSG00000171365 ENSG00000171365 HGNC:2023 COL4A3 gene COL4A3 Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders Unknown False 3 100;0;0 0.229 False ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A4 gene COL4A4 Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders Unknown False 3 100;0;0 0.229 False ENSG00000081052 ENSG00000081052 HGNC:2206 COL4A5 gene COL4A5 Expert Review Green;Victorian Clinical Genetics Services Proteinuria 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, MIM# 301050 False 3 100;0;0 0.229 True ENSG00000188153 ENSG00000188153 HGNC:2207 COQ2 gene COQ2 Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders Unknown False 3 100;0;0 0.229 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ6 gene COQ6 Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders Unknown False 3 100;0;0 0.229 False ENSG00000119723 ENSG00000119723 HGNC:20233 COQ8B gene COQ8B Expert list;Expert Review Green Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 9, MIM#615573 24270420 False 3 100;0;0 0.229 True ENSG00000123815 ENSG00000123815 HGNC:19041 CRB2 gene CRB2 Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Ventriculomegaly with cystic kidney disease, MIM# 219730 25557780;33687977;32051522;30212996 False 3 100;0;0 0.229 True ENSG00000148204 ENSG00000148204 HGNC:18688 CUBN gene CUBN Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders Unknown False 3 100;0;0 0.229 False ENSG00000107611 ENSG00000107611 HGNC:2548 DAAM2 gene DAAM2 Expert Review Green;Literature Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 24, MIM# 619263;steroid-resistant nephrotic syndrome (SRNS) 33232676 False 3 100;0;0 0.229 True ENSG00000146122 ENSG00000146122 HGNC:18143 DGKE gene DGKE Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 7, MIM# 615008 23274426;23542698 False 3 100;0;0 0.229 True ENSG00000153933 ENSG00000153933 HGNC:2852 DLC1 gene DLC1 Expert list;Expert Review Green Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Neprhotic syndrome 29773874 False 3 100;0;0 0.229 True ENSG00000164741 ENSG00000164741 HGNC:2897 FAT1 gene FAT1 Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal facial dysmorphism;colobomatous microphthalmia;ptosis;syndactyly with or without nephropathy 30862798;26905694;32902815 False 3 100;0;0 0.229 True ENSG00000083857 ENSG00000083857 HGNC:3595 FN1 gene FN1 Expert list;Expert Review Green Proteinuria Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Glomerulopathy with fibronectin deposits 2, MIM# 601894" 18268355 False 3 100;0;0 0.229 True ENSG00000115414 ENSG00000115414 HGNC:3778 GLA gene GLA Expert list;Expert Review Green Proteinuria Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females "Fabry disease, MIM# 301500" 18033242 False 3 100;0;0 0.229 True ENSG00000102393 ENSG00000102393 HGNC:4296 GON7 gene GON7 Expert Review Green;Literature Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 9, MIM# 619603 31481669 False 3 100;0;0 0.229 True ENSG00000170270 ENSG00000170270 HGNC:20356 INF2 gene INF2 Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, dominant intermediate E, MIM# 614455;Glomerulosclerosis, focal segmental, 5, MIM# 613237 22187985;30680856;25943269;20023659 False 3 100;0;0 0.229 True ENSG00000203485 ENSG00000203485 HGNC:23791 ITGA3 gene ITGA3 Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748 22512483;25810266;27717396;32198874;26854491 False 3 100;0;0 0.229 True ENSG00000005884 ENSG00000005884 HGNC:6139 ITSN1 gene ITSN1 Expert list;Expert Review Green;Literature Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome PMID: 29773874 False 3 100;0;0 0.229 True ENSG00000205726 ENSG00000205726 HGNC:6183 ITSN2 gene ITSN2 Expert Review Green;Literature Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome PMID: 29773874 False 3 100;0;0 0.229 True ENSG00000198399 ENSG00000198399 HGNC:6184 KANK2 gene KANK2 Expert list;Expert Review Green Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 16, MIM#617783 25961457 False 3 100;0;0 0.229 True ENSG00000197256 ENSG00000197256 HGNC:29300 LAGE3 gene LAGE3 Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Galloway-Mowat syndrome 2, X-linked, MIM# 301006 28805828 False 3 100;0;0 0.229 True ENSG00000196976 ENSG00000196976 HGNC:26058 LAMA5 gene LAMA5 Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 26 620049 29534211;16790509;29764427;30808327;24130771 False 3 60;40;0 0.229 True ENSG00000130702 ENSG00000130702 HGNC:6485 LAMB2 gene LAMB2 Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Pierson syndrome, MIM# 609049;Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199 14136829;15372515;17256789 False 3 100;0;0 0.229 True ENSG00000172037 ENSG00000172037 HGNC:6487 LCAT gene LCAT Expert list;Expert Review Green Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Norum disease, MIM# 245900" False 3 100;0;0 0.229 True ENSG00000213398 ENSG00000213398 HGNC:6522 LMX1B gene LMX1B Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nail-patella syndrome (MIM#161200), MONDO:0008061;LMX1B-related nephropathy;Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020 27450397;32457516 False 3 100;0;0 0.229 True ENSG00000136944 ENSG00000136944 HGNC:6654 LRP2 gene LRP2 Expert list;Expert Review Green Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Donnai-Barrow syndrome, MIM#222448 PMID: 17632512 False 3 100;0;0 0.229 True ENSG00000081479 ENSG00000081479 HGNC:6694 MAFB gene MAFB Expert Review Green;Literature;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multicentric carpotarsal osteolysis syndrome, OMIM#166300 PMID: 30208859;29396697;23956186 False 3 100;0;0 0.229 True ENSG00000204103 ENSG00000204103 HGNC:6408 MAGI2 gene MAGI2 Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 15, MIM# 617609 27932480;25108225;25271328;31171376;31010479 False 3 100;0;0 0.229 True ENSG00000187391 ENSG00000187391 HGNC:18957 MYH9 gene MYH9 Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders Unknown False 3 100;0;0 0.229 False ENSG00000100345 ENSG00000100345 HGNC:7579 MYO1E gene MYO1E Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Glomerulosclerosis, focal segmental, 6, MIM# 614131 21756023;31520189;25739341;23977349 False 3 100;0;0 0.229 True ENSG00000157483 ENSG00000157483 HGNC:7599 NOS1AP gene NOS1AP Expert Review Green;Literature Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 22, MIM# 619155 False 3 50;0;50 0.229 True ENSG00000198929 ENSG00000198929 HGNC:16859 NPHS1 gene NPHS1 Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders Unknown False 3 100;0;0 0.229 False ENSG00000161270 ENSG00000161270 HGNC:7908 NPHS2 gene NPHS2 Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 2 (MIM#600995), AR 32467597;30260545;24509478 False 3 100;0;0 0.229 True ENSG00000116218 ENSG00000116218 HGNC:13394 NUP107 gene NUP107 Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 7, MIM# 618348 28280135;28117080;30179222;25558065 False 3 100;0;0 0.229 True ENSG00000111581 ENSG00000111581 HGNC:29914 NUP133 gene NUP133 Expert Review Green;Literature Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 18, MIM#618177 30179222 False 3 100;0;0 0.229 True ENSG00000069248 ENSG00000069248 HGNC:18016 NUP160 gene NUP160 Expert Review Green;Literature Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 19, MIM#618178 30179222 False 3 100;0;0 0.229 True ENSG00000030066 ENSG00000030066 HGNC:18017 NUP85 gene NUP85 Expert Review Green;Literature Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 17, MIM#618176 30179222 False 3 100;0;0 0.229 True ENSG00000125450 ENSG00000125450 HGNC:8734 NUP93 gene NUP93 Expert list;Expert Review Green Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 12, MIM#616892 26878725 False 3 100;0;0 0.229 True ENSG00000102900 ENSG00000102900 HGNC:28958 OCRL gene OCRL Expert list;Expert Review Green Proteinuria Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Dent disease 2, MIM#300555;Lowe syndrome, MIM#309000 False 3 100;0;0 0.229 True ENSG00000122126 ENSG00000122126 HGNC:8108 OSGEP gene OSGEP Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 3, MIM# 617729 28805828;28272532 False 3 100;0;0 0.229 True ENSG00000092094 ENSG00000092094 HGNC:18028 P3H2 gene P3H2 Expert list;Expert Review Green Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Myopia, high, with cataract and vitreoretinal degeneration (MIM# 614292);Proteinuria, P3H2-related MONDO:0003634 35499085 False 3 100;0;0 0.229 True ENSG00000090530 ENSG00000090530 HGNC:19317 PAX2 gene PAX2 Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomerulosclerosis, focal segmental, 7, MIM#616002 24676634 False 3 100;0;0 0.229 True ENSG00000075891 ENSG00000075891 HGNC:8616 PDSS2 gene PDSS2 Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders Unknown False 3 100;0;0 0.229 False ENSG00000164494 ENSG00000164494 HGNC:23041 PLCE1 gene PLCE1 Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 3, MIM# 610725 17086182;18065803;20591883 False 3 100;0;0 0.229 True ENSG00000138193 ENSG00000138193 HGNC:17175 PODXL gene PODXL Expert Review Green;Literature;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Nephrotic syndrome PMID: 30523047, 29244787, 28117080, 24048372 False 3 100;0;0 0.229 True ENSG00000128567 ENSG00000128567 HGNC:9171 PTPRO gene PTPRO Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 6, MIM# 614196 21722858;34546508;30065916 False 3 100;0;0 0.229 True ENSG00000151490 ENSG00000151490 HGNC:9678 SCARB2 gene SCARB2 Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Progressive Myoclonus Epilepsy, MONDO:0020074;Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900 18308289;18424452;23659519;19847901;18022370;19933215 False 3 100;0;0 0.229 True ENSG00000138760 ENSG00000138760 HGNC:1665 SGPL1 gene SGPL1 Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal RENI syndrome (MIM#617575) 28165343;28165339 False 3 100;0;0 0.229 True ENSG00000166224 ENSG00000166224 HGNC:10817 SMARCAL1 gene SMARCAL1 Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders Unknown False 3 100;0;0 0.229 False ENSG00000138375 ENSG00000138375 HGNC:11102 TBC1D8B gene TBC1D8B Expert Review Green;Victorian Clinical Genetics Services Proteinuria 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, MIM# 301028 30661770 False 3 100;0;0 0.229 True ENSG00000133138 ENSG00000133138 HGNC:24715 TNS2 gene TNS2 Expert list;Expert Review Green Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome 29773874 False 3 100;0;0 0.229 True ENSG00000111077 ENSG00000111077 HGNC:19737 TP53RK gene TP53RK Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 4, MIM# 617730 28805828;30053862 False 3 100;0;0 0.229 True ENSG00000172315 ENSG00000172315 HGNC:16197 TPRKB gene TPRKB Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 5, OMIM #617731 28805828;30053862 False 3 100;0;0 0.229 True ENSG00000144034 ENSG00000144034 HGNC:24259 TRIM8 gene TRIM8 Expert Review Green;Literature Proteinuria Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428;Intellectual disability;Seizures;nephrotic syndrome;proteinuria 30244534;32193649 False 3 100;0;0 0.229 True ENSG00000171206 ENSG00000171206 HGNC:15579 TRPC6 gene TRPC6 Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomerulosclerosis, focal segmental, 2, MIM# 603965 15879175;15924139;34387384;33918778;32509715 False 3 100;0;0 0.229 True ENSG00000137672 ENSG00000137672 HGNC:12338 TTC21B gene TTC21B Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Glomerular disorder (MONDO:0019722), TTC21B-related 35289079;26940125;28124483;31208513;34805047 False 3 33;0;67 0.229 True ENSG00000123607 ENSG00000123607 HGNC:25660 WDR73 gene WDR73 Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders Unknown False 3 100;0;0 0.229 False ENSG00000177082 ENSG00000177082 HGNC:25928 WT1 gene WT1 Expert Review Green;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Denys-Drash syndrome, MIM# 194080;Frasier syndrome, MIM#136680;Wilms tumor, type 1, MIM#194070;Nephrotic syndrome, type 4, MIM#256370 False 3 100;0;0 0.229 True ENSG00000184937 ENSG00000184937 HGNC:12796 YRDC gene YRDC Expert Review Green;Literature Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Galloway-Mowat syndrome 31481669 False 3 100;0;0 0.229 True ENSG00000196449 ENSG00000196449 HGNC:28905 ANLN gene ANLN Expert Review Amber;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Focal segmental glomerulosclerosis 8, OMIM #616032 24676636;30002222 False 2 0;100;0 0.229 True ENSG00000011426 ENSG00000011426 HGNC:14082 APOL1 gene APOL1 Expert Review Amber;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal {Glomerulosclerosis, focal segmental, 4, susceptibility to}, MIM#612551 20647424;24206458;20635188;25993319;34350953 False 2 25;50;25 0.229 True Other ENSG00000100342 ENSG00000100342 HGNC:618 EHD1 gene EHD1 Expert Review Amber;Literature Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Inherited renal tubular disease, MONDO:0015962, EHD1-related 35149593 False 2 0;100;0 0.229 True ENSG00000110047 ENSG00000110047 HGNC:3242 EMP2 gene EMP2 Expert Review Amber;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal nephrotic syndrome, type 10 MONDO:0014373 24814193;31508419 False 2 0;100;0 0.229 True ENSG00000213853 ENSG00000213853 HGNC:3334 KIRREL1 gene KIRREL1 Expert Review Amber;Literature Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 23, MIM# 619201 31472902 False 2 0;100;0 0.229 True ENSG00000183853 ENSG00000183853 HGNC:15734 MEFV gene MEFV Expert Review Amber;Expert Review Green;Literature;Victorian Clinical Genetics Services Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Familial Mediterranean fever MIM#134610;Familial Mediterranean fever MIM#249100;Neutrophilic dermatosis, acute febrile MIM#608068 PMID: 27956278 False 2 50;50;0 0.229 True Other ENSG00000103313 ENSG00000103313 HGNC:6998 PRDM15 gene PRDM15 Expert Review Amber;Literature Proteinuria Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Steroid resistant nephrotic syndrome 31950080 False 2 0;100;0 0.229 True ENSG00000141956 ENSG00000141956 HGNC:13999 RCAN1 gene RCAN1 Expert Review Amber;Literature Proteinuria Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted FSGS;proteinuria 33863784 False 2 0;100;0 0.229 True ENSG00000159200 ENSG00000159200 HGNC:3040