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 ADAMTS13 gene ADAMTS13 Expert Review Amber;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Thrombotic thrombocytopenic purpura, familial, OMIM #274150 False 2 0;0;0 0.3 False ENSG00000160323 ENSG00000160323 HGNC:1366 ADCY10 gene ADCY10 Expert list;Expert Review Amber Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypercalciuria, absorptive, susceptibility to, MIM#143870 11932268 False 2 0;0;0 0.3 False ENSG00000143199 ENSG00000143199 HGNC:21285 ANLN gene ANLN Expert Review Amber;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Focal segmental glomerulosclerosis 8, OMIM #616032 30002222;24676636 False 2 0;0;0 0.3 False ENSG00000011426 ENSG00000011426 HGNC:14082 BBIP1 gene BBIP1 Expert Review Amber;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 18, MIM#615995 24026985 False 2 0;0;0 0.3 False ENSG00000214413 ENSG00000214413 HGNC:28093 CD2AP gene CD2AP Expert Review Amber;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Glomerulosclerosis, focal segmental, 3, OMIM #607832 17713465;30612599 False 2 0;0;0 0.3 False ENSG00000198087 ENSG00000198087 HGNC:14258 CEP120 gene CEP120 Expert Review Amber;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300 False 2 0;0;0 0.3 False ENSG00000168944 ENSG00000168944 HGNC:26690 COQ7 gene COQ7 Expert list;Expert Review Amber Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 8, MIM#616733 28409910;31240163;26084283 False 2 0;0;0 0.3 False ENSG00000167186 ENSG00000167186 HGNC:2244 DCDC2 gene DCDC2 Expert Review Amber;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 19, MIM# 616217 25557784 False 2 0;0;0 0.3 False ENSG00000146038 ENSG00000146038 HGNC:18141 FGF20 gene FGF20 Expert list;Expert Review Amber Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal hypodysplasia/aplasia 2, MIM#615721 22698282 False 2 0;0;0 0.3 False ENSG00000078579 ENSG00000078579 HGNC:3677 GLIS2 gene GLIS2 Expert Review Amber;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephronophthisis 7, OMIM#611498 23559409;17618285 False 2 0;0;0 0.3 False ENSG00000126603 ENSG00000126603 HGNC:29450 IFT74 gene IFT74 Expert Review Amber;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 20 617119 27486776 False 2 0;0;0 0.3 False ENSG00000096872 ENSG00000096872 HGNC:21424 LAMA5 gene LAMA5 Expert Review Amber;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome 29534211 False 2 0;0;0 0.3 False ENSG00000130702 ENSG00000130702 HGNC:6485 SOX11 gene SOX11 Expert list;Expert Review Amber Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital abnormalities of the kidneys and urinary tract 29459093;24886874 False 2 0;0;0 0.3 False ENSG00000176887 ENSG00000176887 HGNC:11191 SRGAP1 gene SRGAP1 Expert Review Amber;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT 26026792 False 2 0;0;0 0.3 False ENSG00000196935 ENSG00000196935 HGNC:17382 THBD gene THBD Expert Review Amber;Victorian Clinical Genetics Services Kidneyome_SuperPanel_VCGS Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted OMIM #612926;{Hemolytic uremic syndrome, atypical, susceptibility to, 6} 19625716 False 2 0;0;0 0.3 False ENSG00000178726 ENSG00000178726 HGNC:11784