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 Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000130402 ENSG00000130402 HGNC:166 ALMS1 gene ALMS1 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000116127 ENSG00000116127 HGNC:428 AMN gene AMN Expert list;Expert Review Green Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Megaloblastic anemia-1, Norwegian type, MIM#261100 15024727 False 3 0;0;0 0.4 False ENSG00000166126 ENSG00000166126 HGNC:14604 ANLN gene ANLN Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000011426 ENSG00000011426 HGNC:14082 APOE gene APOE Expert list;Expert Review Green Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Lipoprotein glomerulopathy, MIM#611771 28966924;18077821;24348079 False 3 0;0;0 0.4 False ENSG00000130203 ENSG00000130203 HGNC:613 ARHGAP24 gene ARHGAP24 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000138639 ENSG00000138639 HGNC:25361 ARHGDIA gene ARHGDIA Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000141522 ENSG00000141522 HGNC:678 CD151 gene CD151 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000177697 ENSG00000177697 HGNC:1630 CD2AP gene CD2AP Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000198087 ENSG00000198087 HGNC:14258 CFH gene CFH Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Complement factor H deficiency, MIM#609814 False 3 0;0;0 0.4 False ENSG00000000971 ENSG00000000971 HGNC:4883 CFHR5 gene CFHR5 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000134389 ENSG00000134389 HGNC:24668 CLCN5 gene CLCN5 Expert list;Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen 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) Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990;Dent disease, MIM#300009 False 3 0;0;0 0.4 False ENSG00000171365 ENSG00000171365 HGNC:2023 COL4A1 gene COL4A1 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000187498 ENSG00000187498 HGNC:2202 COL4A3 gene COL4A3 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000169031 ENSG00000169031 HGNC:2204 COL4A4 gene COL4A4 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000081052 ENSG00000081052 HGNC:2206 COL4A5 gene COL4A5 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000188153 ENSG00000188153 HGNC:2207 COQ2 gene COQ2 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000173085 ENSG00000173085 HGNC:25223 COQ6 gene COQ6 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000119723 ENSG00000119723 HGNC:20233 COQ8B gene COQ8B Expert list;Expert Review Green Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 9, MIM#615573 24270420 False 3 0;0;0 0.4 False ENSG00000123815 ENSG00000123815 HGNC:19041 CRB2 gene CRB2 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000148204 ENSG00000148204 HGNC:18688 CUBN gene CUBN Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000107611 ENSG00000107611 HGNC:2548 DGKE gene DGKE Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000153933 ENSG00000153933 HGNC:2852 EMP2 gene EMP2 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000213853 ENSG00000213853 HGNC:3334 FAT1 gene FAT1 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000083857 ENSG00000083857 HGNC:3595 FN1 gene FN1 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000115414 ENSG00000115414 HGNC:3778 INF2 gene INF2 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000203485 ENSG00000203485 HGNC:23791 ITGA3 gene ITGA3 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000005884 ENSG00000005884 HGNC:6139 KANK2 gene KANK2 Expert list;Expert Review Green Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 16, MIM#617783 25961457 False 3 0;0;0 0.4 False ENSG00000197256 ENSG00000197256 HGNC:29300 LAGE3 gene LAGE3 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000196976 ENSG00000196976 HGNC:26058 LAMA5 gene LAMA5 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome 29534211 False 3 0;0;0 0.4 False ENSG00000130702 ENSG00000130702 HGNC:6485 LAMB2 gene LAMB2 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000172037 ENSG00000172037 HGNC:6487 LMX1B gene LMX1B Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000136944 ENSG00000136944 HGNC:6654 MAGI2 gene MAGI2 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000187391 ENSG00000187391 HGNC:18957 MYH9 gene MYH9 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000100345 ENSG00000100345 HGNC:7579 MYO1E gene MYO1E Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000157483 ENSG00000157483 HGNC:7599 NPHS1 gene NPHS1 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000161270 ENSG00000161270 HGNC:7908 NPHS2 gene NPHS2 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000116218 ENSG00000116218 HGNC:13394 NUP107 gene NUP107 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000111581 ENSG00000111581 HGNC:29914 NUP133 gene NUP133 Expert Review Green;Literature Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 18, MIM#618177 30179222 False 3 0;0;0 0.4 False ENSG00000069248 ENSG00000069248 HGNC:18016 NUP85 gene NUP85 Expert Review Green;Literature Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 17, MIM#618176 30179222 False 3 0;0;0 0.4 False ENSG00000125450 ENSG00000125450 HGNC:8734 NUP93 gene NUP93 Expert list;Expert Review Green Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 12, MIM#616892 26878725 False 3 0;0;0 0.4 False ENSG00000102900 ENSG00000102900 HGNC:28958 OCRL gene OCRL Expert list;Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen 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 0;0;0 0.4 False ENSG00000122126 ENSG00000122126 HGNC:8108 OSGEP gene OSGEP Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000092094 ENSG00000092094 HGNC:18028 PAX2 gene PAX2 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glomerulosclerosis, focal segmental, 7, MIM#616002 24676634 False 3 0;0;0 0.4 False ENSG00000075891 ENSG00000075891 HGNC:8616 PDSS2 gene PDSS2 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000164494 ENSG00000164494 HGNC:23041 PLCE1 gene PLCE1 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000138193 ENSG00000138193 HGNC:17175 PTPRO gene PTPRO Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000151490 ENSG00000151490 HGNC:9678 SCARB2 gene SCARB2 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000138760 ENSG00000138760 HGNC:1665 SGPL1 gene SGPL1 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000166224 ENSG00000166224 HGNC:10817 SMARCAL1 gene SMARCAL1 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000138375 ENSG00000138375 HGNC:11102 TBC1D8B gene TBC1D8B Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen 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 0;0;0 0.4 False ENSG00000133138 ENSG00000133138 HGNC:24715 TP53RK gene TP53RK Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000172315 ENSG00000172315 HGNC:16197 TPRKB gene TPRKB Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000144034 ENSG00000144034 HGNC:24259 TRPC6 gene TRPC6 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000137672 ENSG00000137672 HGNC:12338 WDR73 gene WDR73 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000177082 ENSG00000177082 HGNC:25928 WT1 gene WT1 Expert Review Green;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown False 3 0;0;0 0.4 False ENSG00000184937 ENSG00000184937 HGNC:12796 APOL1 gene APOL1 Expert Review Amber;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Glomerulosclerosis, focal segmental, 4, susceptibility to}, MIM#612551 20635188;24206458;20647424 False 2 0;0;0 0.4 False ENSG00000100342 ENSG00000100342 HGNC:618 KANK1 gene KANK1 Expert list;Expert Review Amber Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome 25961457 False 2 0;0;0 0.4 False ENSG00000107104 ENSG00000107104 HGNC:19309 KANK4 gene KANK4 Expert list;Expert Review Amber Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal 25961457 False 2 0;0;0 0.4 False ENSG00000132854 ENSG00000132854 HGNC:27263 XPO5 gene XPO5 Expert list;Expert Review Amber Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome 26878725 False 2 0;0;0 0.4 False ENSG00000124571 ENSG00000124571 HGNC:17675 COL4A2 gene COL4A2 Expert Review Red;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brain small vessel disease 2, MIM#614483 False 1 0;0;0 0.4 False ENSG00000134871 ENSG00000134871 HGNC:2203 COQ8A gene COQ8A Expert Review Red;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders Unknown Coenzyme Q10 deficiency, primary, 4, MIM#612016 False 1 0;0;0 0.4 False ENSG00000163050 ENSG00000163050 HGNC:16812 ITGB4 gene ITGB4 Expert Review Red;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, with pyloric atresia, MIM#226730 10873890 False 1 0;0;0 0.4 False ENSG00000132470 ENSG00000132470 HGNC:6158 LMNA gene LMNA Expert Review Red;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial partial lipodystrophy;FSGS 24080738 False 1 0;0;0 0.4 False ENSG00000160789 ENSG00000160789 HGNC:6636 NUP160 gene NUP160 Expert Review Red;Literature Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 19, MIM#618178 30179222 False 1 0;0;0 0.4 False ENSG00000030066 ENSG00000030066 HGNC:18017 NUP205 gene NUP205 Expert list;Expert Review Red Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 13, MIM#616893 26878725 False 1 0;0;0 0.4 False ENSG00000155561 ENSG00000155561 HGNC:18658 NUP37 gene NUP37 Expert list;Expert Review Red Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome 30179222 False 1 0;0;0 0.4 False ENSG00000075188 ENSG00000075188 HGNC:29929 TTC21B gene TTC21B Expert Review Red;Victorian Clinical Genetics Services Renal glomerular disease_SuperPanel_VCGS_KidGen Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 12, MIM#613820 False 1 0;0;0 0.4 False ENSG00000123607 ENSG00000123607 HGNC:25660