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 AGXT gene AGXT Expert list;Expert Review Green;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal MONDO:0009823;Hyperoxaluria, primary, type 1, MIM# 259900 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 10453743;2039493;1703535;19479957 False 3 100;0;0 1.17 True ENSG00000172482 ENSG00000172482 HGNC:341 AIRE gene AIRE Expert list;Expert Review Green Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM #240300 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 35521792 False 3 100;0;0 1.17 True ENSG00000160224 ENSG00000160224 HGNC:360 ALPL gene ALPL Expert list;Expert Review Green;NHS GMS;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hypophosphatasia, childhood, OMIM #241510;Odontohypophosphatasia, OMIM #146300;Hypophosphatasia, adult, OMIM # 146300;Hypophosphatasia, infantile, OMIM #241500 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 23688511;19500388 False 3 100;0;0 1.17 True ENSG00000162551 ENSG00000162551 HGNC:438 AMMECR1 gene AMMECR1 Expert Review;Expert Review Green Renal Tubulopathies and related disorders 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) Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 28089922;27811305;29193635 False 3 100;0;0 1.17 True ENSG00000101935 ENSG00000101935 HGNC:467 AP2S1 gene AP2S1 Expert Review Green;KidGen_CalcPhos v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypocalciuric hypercalcaemia, type III, MIM# 600740;MONDO:0010926 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 33729479;3204769;23222959;29479578;33168530;31723423 False 3 100;0;0 1.17 True ENSG00000042753 ENSG00000042753 HGNC:565 APRT gene APRT Expert list;Expert Review Green;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Adenine phosphoribosyltransferase deficiency, MIM#614723 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 1353080;2227934;3680503;7915931 False 3 100;0;0 1.17 False ENSG00000198931 ENSG00000198931 HGNC:626 AQP2 gene AQP2 Expert list;Expert Review Green Renal Tubulopathies and related disorders Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Diabetes insipidus, nephrogenic MIM#125800 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 7537761;11536078;9649557;20301356;27156763;7524315 False 3 100;0;0 1.17 False ENSG00000167580 ENSG00000167580 HGNC:634 ATP1A1 gene ATP1A1 Expert Review Green;Literature Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Charcot-Marie-Tooth disease, axonal, type 2DD, OMIM #618036;Hypomagnesemia, seizures, and mental retardation 2, OMIM #618314 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 30388404 False 3 100;0;0 1.17 False ENSG00000163399 ENSG00000163399 HGNC:799 ATP6V0A4 gene ATP6V0A4 Expert list;Expert Review Green;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Renal tubular acidosis, distal, autosomal recessive, MIM#602722 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 10973252;12414817 False 3 100;0;0 1.17 False ENSG00000105929 ENSG00000105929 HGNC:866 ATP6V1B1 gene ATP6V1B1 Expert Review Green;KidGen_Tubulopathies v38.1.0;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 12414817;9916796;18798332;16611712 False 3 100;0;0 1.17 False ENSG00000116039 ENSG00000116039 HGNC:853 AVP gene AVP Expert list;Expert Review Green Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Diabetes insipidus, neurohypophyseal MIM#125700 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 False 3 100;0;0 1.17 True ENSG00000101200 ENSG00000101200 HGNC:894 AVPR2 gene AVPR2 Expert list;Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal Tubulopathies and related disorders 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) Nephrogenic syndrome of inappropriate antidiuresis 300539;Diabetes insipidus, nephrogenic 304800 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 9127330;1356229;20301356;27156763;15872203 False 3 100;0;0 1.17 False ENSG00000126895 ENSG00000126895 HGNC:897 BCS1L gene BCS1L Expert Review Green;KidGen_MetabolicRenal v38.1.0;Literature;Royal Melbourne Hospital;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Mitochondrial complex III deficiency, nuclear type MIM#112400;Bjornstad syndrome MIM#262000;GRACILE syndrome, MIM#603358 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 26563427;17314340;24172246 False 3 100;0;0 1.17 False ENSG00000074582 ENSG00000074582 HGNC:1020 BSND gene BSND Expert Review Green;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 4a, MIM# 602522 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 21269598;30174009;11687798;12574213;27234911 False 3 100;0;0 1.17 False ENSG00000162399 ENSG00000162399 HGNC:16512 CA2 gene CA2 Expert Review Green;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 34624559;12566520;33555497;7627193 False 3 100;0;0 1.17 False ENSG00000104267 ENSG00000104267 HGNC:1373 CACNA1D gene CACNA1D Expert Review Green;KidGen_AldoHypertension v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MONDO:0014200;Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 23913001;32336187;30698561 False 3 100;0;0 1.17 False ENSG00000157388 ENSG00000157388 HGNC:1391 CACNA1H gene CACNA1H Expert Review Green;KidGen_AldoHypertension v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MONDO:0014875;Hyperaldosteronism, familial, type IV MIM#617027 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 25907736;31126930;27729216 False 3 100;0;0 1.17 False ENSG00000196557 ENSG00000196557 HGNC:1395 CACNA1S gene CACNA1S Expert Review Green;KidGen_AldoHypertension v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypokalemic periodic paralysis, type 1, MIM# 170400 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 11591859;28012042 False 3 100;0;0 1.17 False ENSG00000081248 ENSG00000081248 HGNC:1397 CASR gene CASR Expert Review Green;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypocalcemia, autosomal dominant, with Bartter syndrome, MIM#601198;Hypocalciuric hypercalcemia, type I, MIM# 145980 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 30760291;8813042;27234911 False 3 100;0;0 1.17 False ENSG00000036828 ENSG00000036828 HGNC:1514 CDC73 gene CDC73 Expert Review Green;KidGen_CalcPhos v38.1.0;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperparathyroidism-jaw tumour syndrome, MIM# 145001;Hyperparathyroidism, familial primary, MIM# 145000 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 12434154 False 3 100;0;0 1.17 False ENSG00000134371 ENSG00000134371 HGNC:16783 CDKN1B gene CDKN1B Expert list;Expert Review Green;Literature Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple endocrine neoplasia type 4, MEN4, OMIM #610755 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 24819502, 17030811, 23555276 False 3 100;0;0 1.17 False ENSG00000111276 ENSG00000111276 HGNC:1785 CLCN2 gene CLCN2 Expert Review Green;KidGen_AldoHypertension v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperaldosteronism, familial, type II 605635 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 29403012;29403011 False 3 100;0;0 1.17 False ENSG00000114859 ENSG00000114859 HGNC:2020 CLCN5 gene CLCN5 Expert list;Expert Review Green;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders 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;Nephrolithiasis, type I, MIM#310468;Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990;Hypophosphatemic rickets, MIM#300554 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 28580211;8559248, 9596078 False 3 75;25;0 1.17 False ENSG00000171365 ENSG00000171365 HGNC:2023 CLCNKB gene CLCNKB Expert Review;Expert Review Green;Literature;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 3, MIM# 607364;Bartter syndrome, type 4b, digenic, MIM# 613090 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 18310267;15044642;9326936 False 3 100;0;0 1.17 False ENSG00000184908 ENSG00000184908 HGNC:2027 CLDN10 gene CLDN10 Expert Review Green;KidGen_Magnesium v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal HELIX syndrome, MIM#617671 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 28686597 False 3 100;0;0 1.17 False ENSG00000134873 ENSG00000134873 HGNC:2033 CLDN16 gene CLDN16 Expert Review Green;KidGen_Magnesium v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal amelogenesis imperfecta MONDO#0019507, CLDN16-related;Hypomagnesemia 3, renal MIM#248250 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 16501001;32869508;10878661;26426912 False 3 100;0;0 1.17 False ENSG00000113946 ENSG00000113946 HGNC:2037 CLDN19 gene CLDN19 Expert Review Green;KidGen_Magnesium v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypomagnesaemia 5, renal, with ocular involvement, MIM#248190 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 22422540;27530400;17033971 False 3 100;0;0 1.17 False ENSG00000164007 ENSG00000164007 HGNC:2040 CNNM2 gene CNNM2 Expert Review Green;KidGen_Magnesium v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hypomagnesemia 6, renal MIM#613882;Hypomagnesemia, seizures, and mental retardation MIM#616418 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 35170241;34604137 False 3 100;0;0 1.17 False ENSG00000148842 ENSG00000148842 HGNC:103 CPT2 gene CPT2 Expert Review Green;KidGen_MetabolicRenal v38.1.0;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal CPT II deficiency, lethal neonatal 608836;CPT II deficiency, infantile 600649;CPT II deficiency, myopathic, stress-induced 255110 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 11477613;12410208;8358442;8651281 False 3 100;0;0 1.17 False ENSG00000157184 ENSG00000157184 HGNC:2330 CTNS gene CTNS Expert list;Expert Review Green Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Cystinosis, nephropathic MIM#219800 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 20301574, 9537412, 31068690 False 3 100;0;0 1.17 False ENSG00000040531 ENSG00000040531 HGNC:2518 CUL3 gene CUL3 Expert Review Green;KidGen_AldoHypertension v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism, type IIE, MIM# 614496 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 22266938 False 3 100;0;0 1.17 False ENSG00000036257 ENSG00000036257 HGNC:2553 CYP11B1 gene CYP11B1 Expert Review;Expert Review Green Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Aldosteronism, glucocorticoid-remediable, MIM# 103900" Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 29703198;1731223 False 3 50;50;0 1.17 False ENSG00000160882 ENSG00000160882 HGNC:2591 CYP11B2 gene CYP11B2 Expert Review Green;KidGen_AldoHypertension v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600) Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 9360501;9814506;12788848;8439335;8772616;15240589 False 3 100;0;0 1.17 False ENSG00000179142 ENSG00000179142 HGNC:2592 CYP17A1 gene CYP17A1 Expert list;Expert Review Green;KidGen_MetabolicRenal v38.1.0;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 2843762, 14671162, 2026124 False 3 100;0;0 1.17 False ENSG00000148795 ENSG00000148795 HGNC:2593 CYP21A2 gene CYP21A2 Expert list;Expert Review Green;KidGen_MetabolicRenal v38.1.0;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910;Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 11397897;12930931;12915679 False 3 100;0;0 1.17 False ENSG00000231852 ENSG00000231852 HGNC:2600 CYP24A1 gene CYP24A1 Expert Review Green;KidGen_CalcPhos v38.1.0;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypercalcaemia, infantile, 1, MIM# 143880;MONDO:0020739 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 21675912;33186763;32743688;33516786;32866123;22047572 False 3 100;0;0 1.17 False ENSG00000019186 ENSG00000019186 HGNC:2602 CYP27B1 gene CYP27B1 Expert Review Green;KidGen_CalcPhos v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Vitamin D-dependent rickets, type I MIM#264700 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 27473561;34492747;12050193;9486994;33823104;9415400 False 3 100;0;0 1.17 False ENSG00000111012 ENSG00000111012 HGNC:2606 CYP2R1 gene CYP2R1 Expert list;Expert Review Green;KidGen_CalcPhos v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 28548312;15128933 False 3 100;0;0 1.17 False ENSG00000186104 ENSG00000186104 HGNC:20580 DMP1 gene DMP1 Expert Review Green;KidGen_CalcPhos v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypophosphatemic rickets MIM#241520 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 32920683;17033621;17033625 False 3 100;0;0 1.17 False ENSG00000152592 ENSG00000152592 HGNC:2932 EHHADH gene EHHADH Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fanconi renotubular syndrome 3, MIM#615605 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 24401050;35738466;38310177 False 3 33;33;33 1.17 True ENSG00000113790 ENSG00000113790 HGNC:3247 ENPP1 gene ENPP1 Expert Review Green;KidGen_CalcPhos v38.1.0;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Arterial calcification, generalized, of infancy, 1, MIM# 208000;Cole disease, MIM# 615522;Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 15605415;20016754;12881724;20137772;20137773;33005041;35220637;28964717;24075184;26617416;32598042 False 3 100;0;0 1.17 False ENSG00000197594 ENSG00000197594 HGNC:3356 FAH gene FAH Expert list;Expert Review Green;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Tyrosinemia type I MONDO:0010161 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 8318997;8364576;8253378;1401056;25681080 False 3 100;0;0 1.17 False ENSG00000103876 ENSG00000103876 HGNC:3579 FAM111A gene FAM111A Expert Review Green;KidGen_Magnesium v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted autosomal dominant Kenny-Caffey syndrome MONDO:0007478 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 33010201;32996714;23684011;32765931 False 3 100;0;0 1.17 False ENSG00000166801 ENSG00000166801 HGNC:24725 FAM20A gene FAM20A Expert Review Green;KidGen_CalcPhos v38.1.0;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 24196488;23697977;23434854;23468644;25827751;24756937;21549343;24259279;21990045;26502894 False 3 100;0;0 1.17 False ENSG00000108950 ENSG00000108950 HGNC:23015 FAM20C gene FAM20C Expert list;Expert Review Green Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal MONDO:0009821;Raine syndrome, MIM# 259775 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 32833257;19250384;20825432;33676444;32299476 False 3 100;0;0 1.17 False ENSG00000177706 ENSG00000177706 HGNC:22140 FGF23 gene FGF23 Expert Review Green;KidGen_CalcPhos v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal autosomal dominant hypophosphatemic rickets MONDO:0008660;familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 25378588;34444516;16151858;16030159;15590700;11062477;14966565 False 3 100;0;0 1.17 False ENSG00000118972 ENSG00000118972 HGNC:3680 FOXI1 gene FOXI1 Expert Review Green;Literature Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal autosomal recessive distal renal tubular acidosis MONDO:0018440 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 12642503;29242249;9843211 False 3 100;0;0 1.17 False ENSG00000168269 ENSG00000168269 HGNC:3815 GALNT3 gene GALNT3 Expert Review Green;KidGen_CalcPhos v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 20358599;32125652;15133511 False 3 100;0;0 1.17 False ENSG00000115339 ENSG00000115339 HGNC:4125 GATA3 gene GATA3 Expert list;Expert Review Green;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM #146255 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 10935639, 11389161, 21120445, 26316437, 25771973, 27387476, 30396722 False 3 100;0;0 1.17 False ENSG00000107485 ENSG00000107485 HGNC:4172 GATM gene GATM Expert list;Expert Review Green;KidGen_Tubulopathies v38.1.0;NHS GMS Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Fanconi renotubular syndrome 1, MIM# 134600 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 29654216 False 3 100;0;0 1.17 False ENSG00000171766 ENSG00000171766 HGNC:4175 GCM2 gene GCM2 Expert list;Expert Review Green;Literature;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hyperparathyroidism 4, OMIM #617343;Hypoparathyroidism, familial isolated 2, OMIM #618883 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 27745835, 20190276, 34967908, 35038313 False 3 100;0;0 1.17 False ENSG00000124827 ENSG00000124827 HGNC:4198 GLA gene GLA Expert Review Green;KidGen_MetabolicRenal v38.1.0 Renal Tubulopathies and related disorders 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) Fabry disease (MIM# 301500) Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 8878432;30681346;31613176 False 3 100;0;0 1.17 False ENSG00000102393 ENSG00000102393 HGNC:4296 GNA11 gene GNA11 Expert Review Green;Expert Review Red;KidGen_CalcPhos v38.1.0;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypocalciuric hypercalcemia, type II MIM#145981;Hypocalcemia, autosomal dominant 2 MIM#615361 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 27334330;23802536;23802516;26818911;24823460 False 3 33;0;67 1.17 False ENSG00000088256 ENSG00000088256 HGNC:4379 GNAS gene GNAS Expert list;Expert Review Green Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Pseudohypoparathyroidism Ic (612462) AD;Pituitary adenoma 3, multiple types, somatic (617686);Pseudohypoparathyroidism Ia (103580) AD;Pseudohypoparathyroidism Ib (603233) AD;Osseous heteroplasia, progressive (166350) AD;Pseudopseudohypoparathyroidism (612463) Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 15331575 False 3 100;0;0 1.17 False ENSG00000087460 ENSG00000087460 HGNC:4392 GRHPR gene GRHPR Expert Review Green;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type II, MIM# 260000;MONDO:0009824 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 11030416;24116921;10484776 False 3 100;0;0 1.17 False ENSG00000137106 ENSG00000137106 HGNC:4570 HNF1B gene HNF1B Expert list;Expert Review Green Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal cysts and diabetes syndrome, MIM#137920 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 27234911 False 3 100;0;0 1.17 False ENSG00000108753 ENSG00000275410 HGNC:11630 HNF4A gene HNF4A Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted MODY, type I, OMIM # 125850;Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 31875549;30005691;28458902;24285859;22802087 False 3 100;0;0 1.17 False ENSG00000101076 ENSG00000101076 HGNC:5024 HOGA1 gene HOGA1 Expert Review Green;KidGen_MetabolicRenal v38.1.0;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hyperoxaluria, primary, type III MIM#613616 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 21896830;20797690;22391140 False 3 100;0;0 1.17 False ENSG00000241935 ENSG00000241935 HGNC:25155 HPRT1 gene HPRT1 Expert Review Green;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders 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) HPRT-related gout (MIM# 300323);Lesch-Nyhan syndrome (MIM# 300322) Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 20176575 False 3 100;0;0 1.17 False ENSG00000165704 ENSG00000165704 HGNC:5157 HSD11B2 gene HSD11B2 Expert Review Green;KidGen_AldoHypertension v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal MONDO:0009025;Apparent mineralocorticoid excess, MIM# 218030 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 7670488;17314322;9683587 False 3 100;0;0 1.17 False ENSG00000176387 ENSG00000176387 HGNC:5209 HSD3B2 gene HSD3B2 Expert list;Expert Review Green Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 1363812, 18252794 False 3 100;0;0 1.17 False ENSG00000203859 ENSG00000203859 HGNC:5218 KCNA1 gene KCNA1 Expert Review Green;KidGen_Magnesium v38.1.0;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Epilepsy, MONDO:0005027, KCNA1-related;Episodic ataxia/myokymia syndrome, MIM# 160120 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 32316562;11026449 False 3 100;0;0 1.17 False ENSG00000111262 ENSG00000111262 HGNC:6218 KCNJ1 gene KCNJ1 Expert Review Green;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 2, MIM#241200 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 19096086;12086641;8841184;9580661;12122007;7635463 False 3 100;0;0 1.17 False ENSG00000151704 ENSG00000151704 HGNC:6255 KCNJ10 gene KCNJ10 Expert Review Green;KidGen_Magnesium v38.1.0;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal SESAME syndrome, MIM# 612780 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 21849804;19420365;19289823;11466414 False 3 100;0;0 1.17 False ENSG00000177807 ENSG00000177807 HGNC:6256 KCNJ16 gene KCNJ16 Expert Review Green;Literature Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal deafness;Renal tubulopathy;Inherited renal tubular disease, MONDO:0015962, KCNJ16-related Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 33811157;33840812 False 3 100;0;0 1.17 False ENSG00000153822 ENSG00000153822 HGNC:6262 KCNJ5 gene KCNJ5 Expert Review Green;KidGen_AldoHypertension v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperaldosteronism, familial, type III, MIM# 613677 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 24574546;22203740;24420545;21311022 False 3 100;0;0 1.17 False ENSG00000120457 ENSG00000120457 HGNC:6266 KLHL3 gene KLHL3 Expert Review Green;KidGen_AldoHypertension v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pseudohypoaldosteronism, type IID, MIM# 614495 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 24821705;34022862;22406640;22266938;32462939 False 3 100;0;0 1.17 False ENSG00000146021 ENSG00000146021 HGNC:6354 LCAT gene LCAT Expert Review Green;KidGen_MetabolicRenal v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900;Fish-Eye disease, MIM# 136120 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 6624548;30720493 False 3 100;0;0 1.17 False ENSG00000213398 ENSG00000213398 HGNC:6522 MAGED2 gene MAGED2 Expert Review Green;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders 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) Bartter syndrome, type 5, antenatal, transient, MIM# 300971 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 34895150;35668994;27120771 False 3 50;50;0 1.17 False ENSG00000102316 ENSG00000102316 HGNC:16353 MEN1 gene MEN1 Expert list;Expert Review Green Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple endocrine neoplasia 1 MIM#131100 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 31797261, 14985373 False 3 100;0;0 1.17 False ENSG00000133895 ENSG00000133895 HGNC:7010 MOCOS gene MOCOS Expert Review;Expert Review Green Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Xanthinuria type II, MIM#603592 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 17368066;34356852;11302742;32073534;14624414;27919260;25967871;30758870 False 3 100;0;0 1.17 False ENSG00000075643 ENSG00000075643 HGNC:18234 MUT gene MUT Expert Review Green;KidGen_MetabolicRenal v38.1.0;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Methylmalonic aciduria, mut(0) type, MIM# 251000 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 1977311;11528502;12948746 False 3 100;0;0 1.17 True ENSG00000146085 ENSG00000146085 HGNC:7526 NR3C1 gene NR3C1 Expert Review Green;KidGen_MetabolicRenal v38.1.0;Literature;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Glucocorticoid resistance, OMIM # 615962 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 12754700, 1704018, 8445027, 31995340 False 3 100;0;0 1.17 False ENSG00000113580 ENSG00000113580 HGNC:7978 NR3C2 gene NR3C2 Expert Review Green;KidGen_AldoHypertension v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735;MONDO:0008329 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 11134129;11344206;9662404;16972228;12788847 False 3 100;0;0 1.17 False ENSG00000151623 ENSG00000151623 HGNC:7979 OCRL gene OCRL Expert list;Expert Review Green;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders 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 2, MIM #300555;Lowe syndrome, MIM# 309000 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 19773212, 27625797 False 3 100;0;0 1.17 False ENSG00000122126 ENSG00000122126 HGNC:8108 PCBD1 gene PCBD1 Expert Review Green;KidGen_Magnesium v38.1.0;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 24848070;24204001 False 3 100;0;0 1.17 False ENSG00000166228 ENSG00000166228 HGNC:8646 PDE3A gene PDE3A Expert Review Green;KidGen_AldoHypertension v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypertension and brachydactyly syndrome, MIM# 112410 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 25961942 False 3 0;0;0 1.17 False ENSG00000172572 ENSG00000172572 HGNC:8778 PHEX gene PHEX Expert Review Green;KidGen_CalcPhos v38.1.0;Literature Renal Tubulopathies and related disorders 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) Hypophosphatemic rickets, X-linked dominant;OMIM #307800 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 31065622 False 3 100;0;0 1.17 False ENSG00000102174 ENSG00000102174 HGNC:8918 PTH gene PTH Expert list;Expert Review Green;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hypoparathyroidism, familial isolated 1, MIM# 146200 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 2212001, 1302009, 10523031, 35165722, 32421798 False 3 100;0;0 1.17 False ENSG00000152266 ENSG00000152266 HGNC:9606 PTH1R gene PTH1R Expert Review Green;KidGen_CalcPhos v38.1.0;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400;Failure of tooth eruption, primary MIM#125350;Eiken syndrome MIM#600002;Chondrodysplasia, Blomstrand type MIM#215045 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 7701349;17164305;8855805;15525660;19061984 False 3 100;0;0 1.17 False ENSG00000160801 ENSG00000160801 HGNC:9608 RET gene RET Expert list;Expert Review;Expert Review Green Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Multiple endocrine neoplasia IIB, MIM# 162300;Multiple endocrine neoplasia IIA, MIM# 171400 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 8099202;7906866 False 3 100;0;0 1.17 False ENSG00000165731 ENSG00000165731 HGNC:9967 RMND1 gene RMND1 Expert Review Green;KidGen_MetabolicRenal v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Combined oxidative phosphorylation deficiency 11 MIM#614922 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 18835491;23022099;25604853;23022098;26395190 False 3 100;0;0 1.17 False ENSG00000155906 ENSG00000155906 HGNC:21176 RRAGD gene RRAGD Expert Review Green;Literature Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Inherited renal tubular disease, MONDO:0015962, RRAGD-related;dilated cardiomyopathy;hypomagnesaemia;renal salt-wasting;nephrocalcinosis Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 34607910 False 3 100;0;0 1.17 True ENSG00000025039 ENSG00000025039 HGNC:19903 RRM2B gene RRM2B Expert Review Green;KidGen_MetabolicRenal v38.1.0;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315;Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075;Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 32827185;24741716 False 3 100;0;0 1.17 False ENSG00000048392 ENSG00000048392 HGNC:17296 SARS2 gene SARS2 Expert Review Green;KidGen_Magnesium v38.1.0;KidGen_MetabolicRenal v38.1.0;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal neurodevelopmental disorder MONDO#070009, SARS1-related Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 35790048;28236339;36041817;34570399 False 3 100;0;0 1.17 False ENSG00000104835 ENSG00000104835 HGNC:17697 SCN4A gene SCN4A Expert Review Green;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390;Myasthenic syndrome, congenital, 16, MIM# 614198;Hypokalemic periodic paralysis, type 2, MIM# 613345;Paramyotonia congenita , MIM#168300;Hyperkalemic periodic paralysis, type 2, MIM# 170500 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 34671263;11591859;8385748 False 3 100;0;0 1.17 False ENSG00000007314 ENSG00000007314 HGNC:10591 SCNN1A gene SCNN1A Expert Review;Expert Review Green;Expert Review Red;KidGen_AldoHypertension v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Bronchiectasis with or without elevated sweat chloride 2 613021 AD;Pseudohypoaldosteronism, type I 264350 AR.;?Liddle syndrome 3 618126 AD Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 28710092;31301676 False 3 0;0;100 1.17 False ENSG00000111319 ENSG00000111319 HGNC:10599 SCNN1B gene SCNN1B Expert Review Green;KidGen_AldoHypertension v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pseudohypoaldosteronism, type I, MIM# 264350;Liddle syndrome 1, MIM# 177200 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 8589714 False 3 100;0;0 1.17 False ENSG00000168447 ENSG00000168447 HGNC:10600 SCNN1G gene SCNN1G Expert Review Green;KidGen_AldoHypertension v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Pseudohypoaldosteronism, type I, MIM# 264350;Liddle syndrome 2, MIM# 618114 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 22207244;31655555;28484659;30801930 False 3 100;0;0 1.17 False ENSG00000166828 ENSG00000166828 HGNC:10602 SLC12A1 gene SLC12A1 Expert list;Expert Review Green;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 1, OMIM #601678 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 8640224, 9355073, 28095294 False 3 100;0;0 1.17 False ENSG00000074803 ENSG00000074803 HGNC:10910 SLC12A3 gene SLC12A3 Expert Review Green;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Gitelman syndrome, MIM# 263800 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 8528245;11102542 False 3 100;0;0 1.17 False ENSG00000070915 ENSG00000070915 HGNC:10912 SLC22A12 gene SLC22A12 Expert Review Green;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypouricemia, renal, MIM# 220150, MONDO:0020728 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 34756726;34412930;26821810;34829836;14655203 False 3 100;0;0 1.17 False ENSG00000197891 ENSG00000197891 HGNC:17989 SLC2A2 gene SLC2A2 Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Fanconi-Bickel syndrome, MIM# 227810 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 22145468;30950137 False 3 100;0;0 1.17 False ENSG00000163581 ENSG00000163581 HGNC:11006 SLC2A9 gene SLC2A9 Expert Review Green;KidGen_Tubulopathies v38.1.0;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Hypouricaemia, renal, 2, MIM# 612076 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 19926891;25966807;21256783;19026395;21810765 False 3 100;0;0 1.17 False ENSG00000109667 ENSG00000109667 HGNC:13446 SLC34A1 gene SLC34A1 Expert Review Green;KidGen_CalcPhos v38.1.0;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Nephrolithiasis/osteoporosis, hypophosphatemic, 1 612286;Hypercalcaemia, infantile, 2 MIM#616963 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 33099630;32216560;31188746;30943683;26047794;33516786;30778725;12324554;32866123 False 3 100;0;0 1.17 False ENSG00000131183 ENSG00000131183 HGNC:11019 SLC34A3 gene SLC34A3 Expert Review Green;KidGen_CalcPhos v38.1.0;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypophosphataemic rickets with hypercalciuria, (MIM#241530) Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 32524022 False 3 100;0;0 1.17 False ENSG00000198569 ENSG00000198569 HGNC:20305 SLC3A1 gene SLC3A1 Expert Review Green;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cystinuria, MIM# 220100 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 25964309 False 3 100;0;0 1.17 False ENSG00000138079 ENSG00000138079 HGNC:11025 SLC4A1 gene SLC4A1 Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Distal renal tubular acidosis 4 with haemolytic anaemia, MIM# 611590;MONDO:0012700;MONDO:0008368;Distal renal tubular acidosis 1, MIM# 179800 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 10926824;9312167;9854053;9600966 False 3 100;0;0 1.17 False ENSG00000004939 ENSG00000004939 HGNC:11027 SLC4A4 gene SLC4A4 Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hemiplegic migraine;Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 29914390;10545938;11274232;35260236;33439394 False 3 100;0;0 1.17 False ENSG00000080493 ENSG00000080493 HGNC:11030 SLC5A2 gene SLC5A2 Expert list;Expert Review Green Renal Tubulopathies and related disorders Renal and urinary tract disorders BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal "Renal glucosuria, MIM# 233100" Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 21165652;12436245;26376857 False 3 100;0;0 1.17 False ENSG00000140675 ENSG00000140675 HGNC:11037 SLC6A19 gene SLC6A19 Expert list;Expert Review Green;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Hyperglycinuria, MIM# 138500;Hartnup disorder, MIM# 234500;Iminoglycinuria, MIM# 242600 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 15286788 False 3 100;0;0 1.17 False ENSG00000174358 ENSG00000174358 HGNC:27960 SLC7A7 gene SLC7A7 Expert Review Green;KidGen_MetabolicRenal v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Lysinuric protein intolerance, MIM# 222700 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 10080182;18716612 False 3 100;0;0 1.17 False ENSG00000155465 ENSG00000155465 HGNC:11065 SLC7A9 gene SLC7A9 Expert Review Green;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Cystinuria, MIM# 220100 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 10471498 False 3 100;0;0 1.17 False ENSG00000021488 ENSG00000021488 HGNC:11067 STRADA gene STRADA Expert Review Green;Literature Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Polyhydramnios, megalencephaly, and symptomatic epilepsy;OMIM #611087 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 30311510, 28688840, 27170158, 17522105 False 3 100;0;0 1.17 False ENSG00000266173 ENSG00000266173 HGNC:30172 STX16 gene STX16 Expert list;Expert Review Green Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) Pseudohypoparathyroidism, type IB, MIM#603233 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 27338644;15579741;14561710;24438374 False 3 100;0;0 1.17 False ENSG00000124222 ENSG00000124222 HGNC:11431 TBCE gene TBCE Expert Review Green;Literature Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 27666369 False 3 100;0;0 1.17 False ENSG00000116957 ENSG00000116957 HGNC:11582 TRPM6 gene TRPM6 Expert Review Green;KidGen_Magnesium v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypomagnesaemia 1, intestinal (MIM#602014) Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 21669885 False 3 100;0;0 1.17 False ENSG00000119121 ENSG00000119121 HGNC:17995 TRPM7 gene TRPM7 Expert Review;Expert Review Green Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Familial primary hypomagnesemia, MONDO:0018100, TRPM7-related Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 35561741;35712613;39099563 False 3 100;0;0 1.17 True ENSG00000092439 ENSG00000092439 HGNC:17994 UMOD gene UMOD Expert Review;Expert Review Green Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted "Hyperuricemic nephropathy, familial juvenile 1, MIM# 162000" Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 12471200;12629136 False 3 67;0;33 1.17 False ENSG00000169344 ENSG00000169344 HGNC:12559 VDR gene VDR Expert Review Green;Expert Review Red;KidGen_CalcPhos v38.1.0;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Rickets, vitamin D-resistant, type IIA, MIM# 277440 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 17970811;9005998;2849209 False 3 0;0;100 1.17 False ENSG00000111424 ENSG00000111424 HGNC:12679 VIPAS39 gene VIPAS39 Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 20190753;35151346 False 3 100;0;0 1.17 False ENSG00000151445 ENSG00000151445 HGNC:20347 VPS33B gene VPS33B Expert Review Green;KidGen_Tubulopathies v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085) Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 31777725;31240160;24415890;15052268 False 3 100;0;0 1.17 False ENSG00000184056 ENSG00000184056 HGNC:12712 WDR72 gene WDR72 Expert Review;Expert Review Green Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Amelogenesis imperfecta, type IIA3, MIM# 613211;Distal RTA Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 30028803;30779877 False 3 100;0;0 1.17 False ENSG00000166415 ENSG00000166415 HGNC:26790 WNK1 gene WNK1 Expert Review Green;KidGen_AldoHypertension v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism 2C (PHA2C), MIM#614492 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 11498583;32790646 False 3 100;0;0 1.17 False ENSG00000060237 ENSG00000060237 HGNC:14540 WNK4 gene WNK4 Expert Review Green;KidGen_AldoHypertension v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Pseudohypoaldosteronism, type IIB, MIM# 614491 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 31044551;22266938 False 3 100;0;0 1.17 False ENSG00000126562 ENSG00000126562 HGNC:14544 XDH gene XDH Expert Review Green;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Xanthinuria, type I (MIM#278300) Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 32071838 False 3 100;0;0 1.17 False ENSG00000158125 ENSG00000158125 HGNC:12805 ADCY10 gene ADCY10 Expert list;Expert Review Amber;Expert Review Red;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hypercalciuria, absorptive, susceptibility to, MIM#143870 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 11932268 False 2 0;100;0 1.17 False ENSG00000143199 ENSG00000143199 HGNC:21285 CLCNKA gene CLCNKA Expert Review Amber;KidGen_Tubulopathies v38.1.0;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Bartter syndrome, type 4b, digenic;OMIM #613090 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 18310267;15044642 False 2 0;100;0 1.17 False ENSG00000186510 ENSG00000186510 HGNC:2026 FXYD2 gene FXYD2 Expert Review Amber;KidGen_Magnesium v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Renal hypomagnesemia 2 MONDO:0007937 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 17980699;18448590;12763862;25765846;27014088;11062458 False 2 0;100;0 1.17 False ENSG00000137731 ENSG00000137731 HGNC:4026 KL gene KL Expert Review Amber;KidGen_CalcPhos v38.1.0 Renal Tubulopathies and related disorders 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 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 17710231;31013726;9363890 False 2 0;100;0 1.17 False ENSG00000133116 ENSG00000133116 HGNC:6344 NDUFAF6 gene NDUFAF6 Expert list;Expert Review Amber Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal "Fanconi renotubular syndrome 5, MIM# 618913" Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 27466185 False 2 0;100;0 1.17 False ENSG00000156170 ENSG00000156170 HGNC:28625 OXGR1 gene OXGR1 Expert Review Amber;Literature Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis, MIM# 620374 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 PMID:35671463 False 2 0;100;0 1.17 True ENSG00000165621 ENSG00000165621 HGNC:4531 SLC1A1 gene SLC1A1 Expert Review Amber;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Dicarboxylic aminoaciduria, MIM# 222730 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 21123949 False 2 0;100;0 1.17 False ENSG00000106688 ENSG00000106688 HGNC:10939 SLC36A2 gene SLC36A2 Expert Review Amber;Literature;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Iminoglycinuria, digenic MIM#242600;Hyperglycinuria MIM#138500;Disorders of amino acid transport Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 26141664;19033659;27604308 False 2 100;0;0 1.17 False ENSG00000186335 ENSG00000186335 HGNC:18762 ATP6V1C2 gene ATP6V1C2 Expert Review Red;Literature Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Distal renal tubular acidosis Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 31959358 False 1 0;0;100 1.17 False ENSG00000143882 ENSG00000143882 HGNC:18264 EGF gene EGF Expert Review Red;KidGen_Magnesium v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Hypomagnesemia 4, renal, MIM#611718 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 17671655 False 1 0;0;100 1.17 True ENSG00000138798 ENSG00000138798 HGNC:3229 EGFR gene EGFR Expert Review Red;KidGen_Magnesium v38.1.0 Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal Inflammatory skin and bowel disease, neonatal, 2;OMIM # 616069 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 24691054 False 1 0;0;100 1.17 False ENSG00000146648 ENSG00000146648 HGNC:3236 SLC26A1 gene SLC26A1 Expert Review Red;KidGen_MetabolicRenal v38.1.0;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders BOTH monoallelic and biallelic, autosomal or pseudoautosomal Nephrolithiasis, calcium oxalate, MIM#167030 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 27125215;20160351;30383413;27210743 False 1 0;50;50 1.17 False ENSG00000145217 ENSG00000145217 HGNC:10993 SLC6A20 gene SLC6A20 Expert list;Expert Review Red Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Hyperglycinuria, MIM# 138500 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 24816252;19033659;36820062 False 1 50;0;50 1.17 True ENSG00000163817 ENSG00000163817 HGNC:30927 SLC6A6 gene SLC6A6 Expert Review Red;Literature Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Primary hyperoxaluria, MONDO:0002474, SLC26A6-related Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 35115415;21170874;32660969 False 1 0;0;100 1.17 True ENSG00000131389 ENSG00000131389 HGNC:11052 SLC9A3R1 gene SLC9A3R1 Expert Review Red;KidGen_CalcPhos v38.1.0;Victorian Clinical Genetics Services Renal Tubulopathies and related disorders Renal and urinary tract disorders MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287 Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 18784102 False 1 0;0;100 1.17 True ENSG00000109062 ENSG00000109062 HGNC:11075 TRPV5 gene TRPV5 Expert Review Red;Literature Renal Tubulopathies and related disorders Renal and urinary tract disorders BIALLELIC, autosomal or pseudoautosomal TRPV5-related hypercalciuria (MONDO:0009550) Renal tubular dysfunction;HP:0000124; Nephrolithiasis;HP:0000787; Abnormal circulating aldosterone;HP:0040085 38528055;14679186 False 1 0;0;100 1.17 True ENSG00000127412 ENSG00000127412 HGNC:3145