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 ARHGAP24 gene ARHGAP24 Expert Review Red;Victorian Clinical Genetics Services Renal Glomerular Disease_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted FSGS, MONDO:0005363, ARHGAP24-related Abnormal glomerular filtration rate;HP:0012212; Hematuria;HP:0000790;Proteinuria;HP:0000093 21911940 False 1 0;0;100 1.84 True ENSG00000138639 ENSG00000138639 HGNC:25361 CD151 gene CD151 Expert Review Red;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Renal Glomerular Disease_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057 Abnormal glomerular filtration rate;HP:0012212; Hematuria;HP:0000790;Proteinuria;HP:0000093 15265795;29138120 False 1 0;0;100 1.84 True ENSG00000177697 ENSG00000177697 HGNC:1630 CFH gene CFH Expert Review Red;Victorian Clinical Genetics Services Renal Glomerular Disease_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Complement factor H deficiency, MIM#609814 Abnormal glomerular filtration rate;HP:0012212; Hematuria;HP:0000790;Proteinuria;HP:0000093 False 1 50;0;50 1.84 True ENSG00000000971 ENSG00000000971 HGNC:4883 CFHR5 gene CFHR5 Expert Review Red;Victorian Clinical Genetics Services Renal Glomerular Disease_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nephropathy due to CFHR5 deficiency, MIM#614809 Abnormal glomerular filtration rate;HP:0012212; Hematuria;HP:0000790;Proteinuria;HP:0000093 30844074;30197990;24067434;21566112;20800271;27490940;24334459 False 1 50;0;50 1.84 True ENSG00000134389 ENSG00000134389 HGNC:24668 CLCN5 gene CLCN5 Expert Review Red;Victorian Clinical Genetics Services Renal Glomerular Disease_SuperPanel Renal and urinary tract disorders Unknown Abnormal glomerular filtration rate;HP:0012212; Hematuria;HP:0000790;Proteinuria;HP:0000093 False 1 0;0;100 1.84 True ENSG00000171365 ENSG00000171365 HGNC:2023 COL4A2 gene COL4A2 Expert Review Red;Victorian Clinical Genetics Services Renal Glomerular Disease_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Brain small vessel disease 2, MIM#614483 Abnormal glomerular filtration rate;HP:0012212; Hematuria;HP:0000790;Proteinuria;HP:0000093 False 1 0;0;100 1.84 True ENSG00000134871 ENSG00000134871 HGNC:2203 COQ8A gene COQ8A Expert Review Green;Expert Review Red;Victorian Clinical Genetics Services Renal Glomerular Disease_SuperPanel Renal and urinary tract disorders Unknown Coenzyme Q10 deficiency, primary, 4, MIM#612016 Abnormal glomerular filtration rate;HP:0012212; Hematuria;HP:0000790;Proteinuria;HP:0000093 False 1 50;0;50 1.84 True ENSG00000163050 ENSG00000163050 HGNC:16812 CUBN gene CUBN Expert Review Red;Victorian Clinical Genetics Services Renal Glomerular Disease_SuperPanel Renal and urinary tract disorders Unknown Abnormal glomerular filtration rate;HP:0012212; Hematuria;HP:0000790;Proteinuria;HP:0000093 False 1 0;0;100 1.84 True ENSG00000107611 ENSG00000107611 HGNC:2548 FN1 gene FN1 Expert Review Red;Victorian Clinical Genetics Services Renal Glomerular Disease_SuperPanel Renal and urinary tract disorders Unknown Abnormal glomerular filtration rate;HP:0012212; Hematuria;HP:0000790;Proteinuria;HP:0000093 False 1 0;0;100 1.84 True ENSG00000115414 ENSG00000115414 HGNC:3778 IL1RAP gene IL1RAP Expert Review Red;Literature Renal Glomerular Disease_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Steroid-sensitive nephrotic syndrome Abnormal glomerular filtration rate;HP:0012212; Hematuria;HP:0000790;Proteinuria;HP:0000093 31954058 False 1 0;0;100 1.84 True ENSG00000196083 ENSG00000196083 HGNC:5995 ITGB4 gene ITGB4 Expert Review Red;Victorian Clinical Genetics Services Renal Glomerular Disease_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Epidermolysis bullosa, junctional, with pyloric atresia, MIM#226730 Abnormal glomerular filtration rate;HP:0012212; Hematuria;HP:0000790;Proteinuria;HP:0000093 10873890 False 1 0;0;100 1.84 True ENSG00000132470 ENSG00000132470 HGNC:6158 KANK1 gene KANK1 Expert Review Red;Expert list Renal Glomerular Disease_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome Abnormal glomerular filtration rate;HP:0012212; Hematuria;HP:0000790;Proteinuria;HP:0000093 25961457 False 1 0;0;100 1.84 True ENSG00000107104 ENSG00000107104 HGNC:19309 KANK4 gene KANK4 Expert Review Red;Expert list Renal Glomerular Disease_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Abnormal glomerular filtration rate;HP:0012212; Hematuria;HP:0000790;Proteinuria;HP:0000093 25961457 False 1 0;50;50 1.84 True ENSG00000132854 ENSG00000132854 HGNC:27263 KAT2B gene KAT2B Expert Review Red;Literature Renal Glomerular Disease_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal steroid-resistant nephrotic syndrome MONDO:0044765, KAT2B-related Abnormal glomerular filtration rate;HP:0012212; Hematuria;HP:0000790;Proteinuria;HP:0000093 39366742 False 1 0;0;100 1.84 True ENSG00000114166 ENSG00000114166 HGNC:8638 LMNA gene LMNA Expert Review Red;Victorian Clinical Genetics Services Renal Glomerular Disease_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial partial lipodystrophy;FSGS Abnormal glomerular filtration rate;HP:0012212; Hematuria;HP:0000790;Proteinuria;HP:0000093 24080738 False 1 0;0;100 1.84 True ENSG00000160789 ENSG00000160789 HGNC:6636 LMX1B gene LMX1B Expert Review Red;Victorian Clinical Genetics Services Renal Glomerular Disease_SuperPanel Renal and urinary tract disorders Unknown Abnormal glomerular filtration rate;HP:0012212; Hematuria;HP:0000790;Proteinuria;HP:0000093 False 1 0;0;100 1.84 True ENSG00000136944 ENSG00000136944 HGNC:6654 NPHS2 gene NPHS2 Expert Review Red;Victorian Clinical Genetics Services Renal Glomerular Disease_SuperPanel Renal and urinary tract disorders Unknown Abnormal glomerular filtration rate;HP:0012212; Hematuria;HP:0000790;Proteinuria;HP:0000093 False 1 0;0;100 1.84 True ENSG00000116218 ENSG00000116218 HGNC:13394 NUP205 gene NUP205 Expert Review Red;Expert list Renal Glomerular Disease_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 13, MIM#616893 Abnormal glomerular filtration rate;HP:0012212; Hematuria;HP:0000790;Proteinuria;HP:0000093 26878725 False 1 0;0;100 1.84 True ENSG00000155561 ENSG00000155561 HGNC:18658 NUP37 gene NUP37 Expert Review Red;Expert list Renal Glomerular Disease_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome Abnormal glomerular filtration rate;HP:0012212; Hematuria;HP:0000790;Proteinuria;HP:0000093 30179222 False 1 0;0;100 1.84 True ENSG00000075188 ENSG00000075188 HGNC:29929 OCRL gene OCRL Expert Review Red;Victorian Clinical Genetics Services Renal Glomerular Disease_SuperPanel Renal and urinary tract disorders Unknown Abnormal glomerular filtration rate;HP:0012212; Hematuria;HP:0000790;Proteinuria;HP:0000093 False 1 0;0;100 1.84 True ENSG00000122126 ENSG00000122126 HGNC:8108 SPRY2 gene SPRY2 Expert Review Red;Literature Renal Glomerular Disease_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "{?IgA nephropathy, susceptibility to, 3} MIM#616818" Abnormal glomerular filtration rate;HP:0012212; Hematuria;HP:0000790;Proteinuria;HP:0000093 25782674 False 1 0;0;100 1.84 True ENSG00000136158 ENSG00000136158 HGNC:11270 XPO5 gene XPO5 Expert Review Red;Expert list Renal Glomerular Disease_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome Abnormal glomerular filtration rate;HP:0012212; Hematuria;HP:0000790;Proteinuria;HP:0000093 26878725 False 1 0;100;0 1.84 True ENSG00000124571 ENSG00000124571 HGNC:17675