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 Green;Expert Review Amber;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Thrombotic thrombocytopenic purpura, familial, OMIM #274150 Abnormality of the kidney;HP:0000077 False 2 50;50;0 8.102 True ENSG00000160323 ENSG00000160323 HGNC:1366 ADAMTS9 gene ADAMTS9 Expert Review Amber;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related Abnormality of the kidney;HP:0000077 PMID:30609407 False 2 50;50;0 8.102 True ENSG00000163638 ENSG00000163638 HGNC:13202 ADCY10 gene ADCY10 Expert list;Expert Review Amber;Expert Review Amber;Expert Review Red;Expert list;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypercalciuria, absorptive, susceptibility to, MIM#143870 Abnormality of the kidney;HP:0000077 11932268 False 2 0;100;0 8.102 False ENSG00000143199 ENSG00000143199 HGNC:21285 ANLN gene ANLN Expert Review Amber;Expert Review Amber;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Focal segmental glomerulosclerosis 8, OMIM #616032 Abnormality of the kidney;HP:0000077 24676636;30002222 False 2 0;100;0 8.102 True ENSG00000011426 ENSG00000011426 HGNC:14082 APOL1 gene APOL1 Expert Review Amber;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal {Glomerulosclerosis, focal segmental, 4, susceptibility to}, MIM#612551 Abnormality of the kidney;HP:0000077 20647424;24206458;20635188;25993319;34350953 False 2 25;50;25 8.102 True Other ENSG00000100342 ENSG00000100342 HGNC:618 B9D2 gene B9D2 Expert Review Amber;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 10, MIM# 614175 Abnormality of the kidney;HP:0000077 21763481 False 2 0;100;0 8.102 True ENSG00000123810 ENSG00000123810 HGNC:28636 BBIP1 gene BBIP1 Expert Review Amber;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bardet-Biedl syndrome 18, MIM#615995 Abnormality of the kidney;HP:0000077 24026985;32055034 False 2 0;100;0 8.102 True ENSG00000214413 ENSG00000214413 HGNC:28093 BCORL1 gene BCORL1 Expert Review Amber;Expert Review Kidneyome_SuperPanel Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Congenital anomaly of the kidney and urinary tract, MONDO:0019719, BCORL1-related Abnormality of the kidney;HP:0000077 False 2 0;100;0 8.102 True ENSG00000085185 ENSG00000085185 HGNC:25657 C1GALT1C1 gene C1GALT1C1 Expert Review Amber;Literature Kidneyome_SuperPanel Renal and urinary tract disorders X-LINKED: hemizygous mutation in males, biallelic mutations in females Haemolytic uraemic syndrome, atypical, 8, with rhizomelic short stature, MIM# 301110 Abnormality of the kidney;HP:0000077 36599939;37216524 False 2 0;50;50 8.102 True ENSG00000171155 ENSG00000171155 HGNC:24338 CEP120 gene CEP120 Expert Review Amber;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300 Abnormality of the kidney;HP:0000077 False 2 50;50;0 8.102 True ENSG00000168944 ENSG00000168944 HGNC:26690 CEP41 gene CEP41 Expert Review Amber;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 15, MIM# 614464 Abnormality of the kidney;HP:0000077 22246503 False 2 0;100;0 8.102 True ENSG00000106477 ENSG00000106477 HGNC:12370 CLCNKA gene CLCNKA KidGen_Tubulopathies v38.1.0;Expert Review Amber;Expert Review Amber;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 4b, digenic;OMIM #613090 Abnormality of the kidney;HP:0000077 18310267;15044642 False 2 0;100;0 8.102 False ENSG00000186510 ENSG00000186510 HGNC:2026 COQ7 gene COQ7 Expert Review Green;Expert Review Amber;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Coenzyme Q10 deficiency, primary, 8, MIM#616733 Abnormality of the kidney;HP:0000077 31240163;28409910;26084283 False 2 67;0;33 8.102 True ENSG00000167186 ENSG00000167186 HGNC:2244 CYS1 gene CYS1 Expert Review Amber;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Polycystic kidney disease, MONDO:0020642 Abnormality of the kidney;HP:0000077 34521872 False 2 0;100;0 8.102 True ENSG00000205795 ENSG00000205795 HGNC:18525 DACT1 gene DACT1 Expert Review Amber;NHS GMS;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Townes-Brocks syndrome 2, MIM#617466 Abnormality of the kidney;HP:0000077 28054444 False 2 0;67;33 8.102 True ENSG00000165617 ENSG00000165617 HGNC:17748 DDX59 gene DDX59 Expert Review Amber;Expert Review;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Orofaciodigital syndrome V (MIM#174300) Abnormality of the kidney;HP:0000077 29127725;23972372;28711741 False 2 50;50;0 8.102 True ENSG00000118197 ENSG00000118197 HGNC:25360 EHD1 gene EHD1 Expert Review Amber;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Inherited renal tubular disease, MONDO:0015962, EHD1-related Abnormality of the kidney;HP:0000077 35149593 False 2 0;100;0 8.102 True ENSG00000110047 ENSG00000110047 HGNC:3242 EMP2 gene EMP2 Expert Review Amber;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal nephrotic syndrome, type 10 MONDO:0014373 Abnormality of the kidney;HP:0000077 24814193;31508419 False 2 0;100;0 8.102 True ENSG00000213853 ENSG00000213853 HGNC:3334 FGF20 gene FGF20 Expert Review Amber;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal hypodysplasia/aplasia 2, MIM#615721 Abnormality of the kidney;HP:0000077 22698282 False 2 0;100;0 8.102 True ENSG00000078579 ENSG00000078579 HGNC:3677 FOXC1 gene FOXC1 Expert Review Amber;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital anomalies of the kidney and urinary tract (CAKUT) Abnormality of the kidney;HP:0000077 32475988 False 2 0;100;0 8.102 True ENSG00000054598 ENSG00000054598 HGNC:3800 FOXC1 gene FOXC1 Expert Review Green;Expert Review Amber;Literature;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital anomalies of the kidney and urinary tract (CAKUT) Abnormality of the kidney;HP:0000077 PMID: 32475988 False 2 50;50;0 8.102 False ENSG00000054598 ENSG00000054598 HGNC:3800 FXYD2 gene FXYD2 Expert Review Amber;KidGen_Magnesium v38.1.0;Expert Review Amber Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal hypomagnesemia 2 MONDO:0007937 Abnormality of the kidney;HP:0000077 17980699;18448590;12763862;25765846;27014088;11062458 False 2 0;100;0 8.102 False ENSG00000137731 ENSG00000137731 HGNC:4026 KIRREL1 gene KIRREL1 Expert Review Amber;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Nephrotic syndrome, type 23, MIM# 619201 Abnormality of the kidney;HP:0000077 31472902 False 2 0;100;0 8.102 True ENSG00000183853 ENSG00000183853 HGNC:15734 KL gene KL Expert Review Amber;KidGen_CalcPhos v38.1.0;Expert Review Amber Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hyperphosphatemia;Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994 Abnormality of the kidney;HP:0000077 17710231;31013726;9363890 False 2 0;100;0 8.102 False ENSG00000133116 ENSG00000133116 HGNC:6344 MEFV gene MEFV Expert Review Amber;Literature;Expert Review Green;Victorian Clinical Genetics Services Kidneyome_SuperPanel 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 Abnormality of the kidney;HP:0000077 PMID: 27956278 False 2 50;50;0 8.102 True Other ENSG00000103313 ENSG00000103313 HGNC:6998 NDUFAF6 gene NDUFAF6 Expert list;Expert Review Amber;Expert Review Amber;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Fanconi renotubular syndrome 5, MIM# 618913" Abnormality of the kidney;HP:0000077 27466185 False 2 0;100;0 8.102 False ENSG00000156170 ENSG00000156170 HGNC:28625 OXGR1 gene OXGR1 Expert Review Amber;Literature Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis, MIM# 620374 Abnormality of the kidney;HP:0000077 PMID:35671463 False 2 0;100;0 8.102 True ENSG00000165621 ENSG00000165621 HGNC:4531 PDIA6 gene PDIA6 Expert Review Amber;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Asphyxiating thoracic dystrophy (ATD) syndrome and infantile onset diabetes Abnormality of the kidney;HP:0000077 PMID: 33495992 False 2 0;100;0 8.102 True ENSG00000143870 ENSG00000143870 HGNC:30168 PRDM15 gene PRDM15 Expert Review Amber;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Steroid resistant nephrotic syndrome Abnormality of the kidney;HP:0000077 31950080 False 2 0;100;0 8.102 True ENSG00000141956 ENSG00000141956 HGNC:13999 PTCH1 gene PTCH1 Expert Review Amber;Other Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Bladder exstrophy and epispadias complex (BEEC) Abnormality of the kidney;HP:0000077 False 2 0;100;0 8.102 False ENSG00000185920 ENSG00000185920 HGNC:9585 RCAN1 gene RCAN1 Expert Review Amber;Literature Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted FSGS;proteinuria Abnormality of the kidney;HP:0000077 33863784 False 2 0;100;0 8.102 True ENSG00000159200 ENSG00000159200 HGNC:3040 SEC16B gene SEC16B Expert Review Amber;Expert Review Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related Abnormality of the kidney;HP:0000077 PMID: 28375157, 28862642, 30652979 False 2 0;50;50 8.102 True ENSG00000120341 ENSG00000120341 HGNC:30301 SIX5 gene SIX5 Expert Review Amber;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Branchiootorenal syndrome 2, MIM# 610896 Abnormality of the kidney;HP:0000077 17357085;33624842;20301554;24730701;22447252;21280147;14704431;11950062;10802667;10802668 False 2 0;100;0 8.102 True ENSG00000177045 ENSG00000177045 HGNC:10891 SLC1A1 gene SLC1A1 Expert Review Amber;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Dicarboxylic aminoaciduria, MIM# 222730 Abnormality of the kidney;HP:0000077 21123949 False 2 0;100;0 8.102 False ENSG00000106688 ENSG00000106688 HGNC:10939 SLC36A2 gene SLC36A2 Expert Review Amber;Victorian Clinical Genetics Services;Literature Kidneyome_SuperPanel Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Iminoglycinuria, digenic MIM#242600;Hyperglycinuria MIM#138500;Disorders of amino acid transport Abnormality of the kidney;HP:0000077 26141664;19033659;27604308 False 2 100;0;0 8.102 False ENSG00000186335 ENSG00000186335 HGNC:18762 SLIT2 gene SLIT2 Expert Review Amber;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT Abnormality of the kidney;HP:0000077 26026792;15130495 False 2 0;100;0 8.102 True ENSG00000145147 ENSG00000145147 HGNC:11086 SOX11 gene SOX11 Expert Review Amber;Expert list Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Congenital abnormalities of the kidneys and urinary tract Abnormality of the kidney;HP:0000077 29459093;24886874 False 2 0;100;0 8.102 True ENSG00000176887 ENSG00000176887 HGNC:11191 SRGAP1 gene SRGAP1 Expert Review Amber;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted CAKUT Abnormality of the kidney;HP:0000077 26026792 False 2 0;100;0 8.102 True ENSG00000196935 ENSG00000196935 HGNC:17382 THBD gene THBD Expert Review Green;Expert Review Amber;Victorian Clinical Genetics Services;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted {Hemolytic uremic syndrome, atypical, susceptibility to, 6};OMIM #612926 Abnormality of the kidney;HP:0000077 19625716 False 2 33;67;0 8.102 True ENSG00000178726 ENSG00000178726 HGNC:11784 TMEM107 gene TMEM107 Expert Review Amber;Expert Review;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Meckel syndrome 13 (MIM#617562);Orofaciodigital syndrome XVI (MIM#617563) Abnormality of the kidney;HP:0000077 26595381;26123494 False 2 0;100;0 8.102 True ENSG00000179029 ENSG00000179029 HGNC:28128 TSHZ3 gene TSHZ3 Expert Review Amber;Literature Kidneyome_SuperPanel Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted congenital anomaly of kidney and urinary tract MONDO:0019719 Abnormality of the kidney;HP:0000077 27668656;34919690;36553458;39420202 False 2 0;100;0 8.102 True ENSG00000121297 ENSG00000121297 HGNC:30700 WNT9B gene WNT9B Expert Review Amber;Expert Review Amber;Literature;Victorian Clinical Genetics Services Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal agenesis/hypoplasia/dysplasia, no OMIM # Abnormality of the kidney;HP:0000077 PMID: 34145744 False 2 0;100;0 8.102 True ENSG00000158955 ENSG00000158955 HGNC:12779 ZNF423 gene ZNF423 Expert Review Amber;Expert Review;KidGen_CilioNephronop v38.1.0 Kidneyome_SuperPanel Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Joubert syndrome 19, OMIM# 614844 Abnormality of the kidney;HP:0000077 22863007 False 2 0;100;0 8.102 True ENSG00000102935 ENSG00000102935 HGNC:16762