Renal Tubulopathies and related disorders (Version 2.0)

Level 2: Renal and urinary tract disorders

Relevant disorders: Renal tubular dysfunction, HP:0000124; Nephrolithiasis, HP:0000787; Abnormal circulating aldosterone, HP:0040085
Panel types: Victorian Clinical Genetics Services, KidGen, Genetic Health Queensland, Royal Melbourne Hospital

Description

This panel was developed/updated in Dec'22 and is maintained by the KidGen Collaborative, and is a consensus panel used by VCGS, GHQ, and RMH.

This panel contains genes that cause:
-renal tubular disorders
-electrolyte abnormalities (e.g. Na, K, H, Mg, Ca, PO4, Cl, HCO3)
-aldosterone abnormalities
-nephrolithiasis
-metabolic renal diseases 

It supersedes the following panels: Bartter syndrome, Dent disease, Diabetes Insipidus, Hyperoxaluria, Metabolic renal disease, Nephrolithiasis and Nephrocalcinosis, Renal abnormalities of calcium and phosphate metabolism, Renal Abnormalities of Magnesium Metabolism, Renal Hypertension and Disorders of Aldosterone Metabolism, and Renal Tubulopathies_KidGen.

Panel Activity

21 reviewers

Kristin Rigbye (Victorian Clinical Genetics Services)
Ella Wilkins (Victorian Clinical Genetics Services)
Alison Yeung (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Eleanor Williams (Genomics England)
Samantha Ayres (Victorian Clinical Genetics Services)
Manny Jacobs (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Sangavi Sivagnanasundram (Melbourne Health)
Michelle Torres (Victorian Clinical Genetics Services)
Teresa Zhao (Victorian Clinical Genetics Services)
Sarah Pantaleo (Victorian Clinical Genetics Services)
Melanie Marty (Victorian Clinical Genetics Services)
Bryony Thompson (Royal Melbourne Hospital)
Elena Savva (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Belinda Chong (Victorian Clinical Genetics Services)
Krithika Murali (Pathology Queensland)
Sarah Milton (Victorian Clinical Genetics Services)
Zornitza Stark (Victorian Clinical Genetics Services)
chirag patel (Genetic Health Queensland)

134 Entities

134 reviewed, 116 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 134 Entitiess
Green Green List (high evidence)	AGXT	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations MONDO:0009823 Hyperoxaluria, primary, type 1, MIM# 259900 Tags
Green Green List (high evidence)	AIRE	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM #240300 Tags
Green Green List (high evidence)	ALPL	4 reviews 4 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Disease associations Hypophosphatasia, childhood, OMIM #241510 Odontohypophosphatasia, OMIM #146300 Hypophosphatasia, adult, OMIM # 146300 Hypophosphatasia, infantile, OMIM #241500 Tags
Green Green List (high evidence)	AMMECR1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Expert Review Green Disease associations Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990 Tags
Green Green List (high evidence)	AP2S1	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Disease associations Hypocalciuric hypercalcaemia, type III, MIM# 600740 MONDO:0010926 Tags
Green Green List (high evidence)	APRT	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Adenine phosphoribosyltransferase deficiency, MIM#614723 Tags
Green Green List (high evidence)	AQP2	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Diabetes insipidus, nephrogenic MIM#125800 Tags
Green Green List (high evidence)	ATP1A1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Charcot-Marie-Tooth disease, axonal, type 2DD, OMIM #618036 Hypomagnesemia, seizures, and mental retardation 2, OMIM #618314 Tags
Green Green List (high evidence)	ATP6V0A4	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Renal tubular acidosis, distal, autosomal recessive, MIM#602722 Tags
Green Green List (high evidence)	ATP6V1B1	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Tubulopathies v38.1.0 Victorian Clinical Genetics Services Disease associations Distal renal tubular acidosis 2 with progressive sensorineural hearing loss, MIM# 267300 Tags
Green Green List (high evidence)	AVP	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Diabetes insipidus, neurohypophyseal MIM#125700 Tags
Green Green List (high evidence)	AVPR2	2 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green KidGen_Tubulopathies v38.1.0 Disease associations Nephrogenic syndrome of inappropriate antidiuresis 300539 Diabetes insipidus, nephrogenic 304800 Tags
Green Green List (high evidence)	BCS1L	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_MetabolicRenal v38.1.0 Literature Royal Melbourne Hospital Victorian Clinical Genetics Services Disease associations Mitochondrial complex III deficiency, nuclear type MIM#112400 Bjornstad syndrome MIM#262000 GRACILE syndrome, MIM#603358 Tags
Green Green List (high evidence)	BSND	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Bartter syndrome, type 4a, MIM# 602522 Tags
Green Green List (high evidence)	CA2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730 Tags
Green Green List (high evidence)	CACNA1D	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Disease associations MONDO:0014200 Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474 Tags
Green Green List (high evidence)	CACNA1H	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Disease associations MONDO:0014875 Hyperaldosteronism, familial, type IV MIM#617027 Tags
Green Green List (high evidence)	CACNA1S	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Disease associations Hypokalemic periodic paralysis, type 1, MIM# 170400 Tags
Green Green List (high evidence)	CASR	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hypocalcemia, autosomal dominant, with Bartter syndrome, MIM#601198 Hypocalciuric hypercalcemia, type I, MIM# 145980 Tags
Green Green List (high evidence)	CDC73	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Victorian Clinical Genetics Services Disease associations Hyperparathyroidism-jaw tumour syndrome, MIM# 145001 Hyperparathyroidism, familial primary, MIM# 145000 Tags
Green Green List (high evidence)	CDKN1B	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Disease associations Multiple endocrine neoplasia type 4, MEN4, OMIM #610755 Tags
Green Green List (high evidence)	CLCN2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Disease associations Hyperaldosteronism, familial, type II 605635 Tags
Green Green List (high evidence)	CLCN5	4 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Dent disease, MIM#300009 Nephrolithiasis, type I, MIM#310468 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990 Hypophosphatemic rickets, MIM#300554 Tags
Green Green List (high evidence)	CLCNKB	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Bartter syndrome, type 3, MIM# 607364 Bartter syndrome, type 4b, digenic, MIM# 613090 Tags
Green Green List (high evidence)	CLDN10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Magnesium v38.1.0 Disease associations HELIX syndrome, MIM#617671 Tags
Green Green List (high evidence)	CLDN16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Magnesium v38.1.0 Disease associations amelogenesis imperfecta MONDO#0019507, CLDN16-related Hypomagnesemia 3, renal MIM#248250 Tags
Green Green List (high evidence)	CLDN19	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Magnesium v38.1.0 Disease associations Hypomagnesaemia 5, renal, with ocular involvement, MIM#248190 Tags
Green Green List (high evidence)	CNNM2	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Magnesium v38.1.0 Disease associations Hypomagnesemia 6, renal MIM#613882 Hypomagnesemia, seizures, and mental retardation MIM#616418 Tags
Green Green List (high evidence)	CPT2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_MetabolicRenal v38.1.0 Victorian Clinical Genetics Services Disease associations CPT II deficiency, lethal neonatal 608836 CPT II deficiency, infantile 600649 CPT II deficiency, myopathic, stress-induced 255110 Tags
Green Green List (high evidence)	CTNS	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Cystinosis, nephropathic MIM#219800 Tags
Green Green List (high evidence)	CUL3	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Disease associations Pseudohypoaldosteronism, type IIE, MIM# 614496 Tags
Green Green List (high evidence)	CYP11B1	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Aldosteronism, glucocorticoid-remediable, MIM# 103900 Tags
Green Green List (high evidence)	CYP11B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Disease associations Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600) Tags
Green Green List (high evidence)	CYP17A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green KidGen_MetabolicRenal v38.1.0 Victorian Clinical Genetics Services Disease associations 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110 Tags
Green Green List (high evidence)	CYP21A2	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green KidGen_MetabolicRenal v38.1.0 Victorian Clinical Genetics Services Disease associations Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 Tags
Green Green List (high evidence)	CYP24A1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Victorian Clinical Genetics Services Disease associations Hypercalcaemia, infantile, 1, MIM# 143880 MONDO:0020739 Tags
Green Green List (high evidence)	CYP27B1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Disease associations Vitamin D-dependent rickets, type I MIM#264700 Tags
Green Green List (high evidence)	CYP2R1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green KidGen_CalcPhos v38.1.0 Disease associations Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081 Tags
Green Green List (high evidence)	DMP1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Disease associations Hypophosphatemic rickets MIM#241520 Tags
Green Green List (high evidence)	EHHADH	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Tubulopathies v38.1.0 Disease associations Fanconi renotubular syndrome 3, MIM#615605 Tags
Green Green List (high evidence)	ENPP1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Victorian Clinical Genetics Services Disease associations Arterial calcification, generalized, of infancy, 1, MIM# 208000 Cole disease, MIM# 615522 Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312 Tags
Green Green List (high evidence)	FAH	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Tyrosinemia type I MONDO:0010161 Tags
Green Green List (high evidence)	FAM111A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Magnesium v38.1.0 Disease associations autosomal dominant Kenny-Caffey syndrome MONDO:0007478 Tags
Green Green List (high evidence)	FAM20A	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Victorian Clinical Genetics Services Disease associations Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690 Tags
Green Green List (high evidence)	FAM20C	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations MONDO:0009821 Raine syndrome, MIM# 259775 Tags
Green Green List (high evidence)	FGF23	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Disease associations autosomal dominant hypophosphatemic rickets MONDO:0008660 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251 Tags
Green Green List (high evidence)	FOXI1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations autosomal recessive distal renal tubular acidosis MONDO:0018440 Tags
Green Green List (high evidence)	GALNT3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Disease associations Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900 Tags
Green Green List (high evidence)	GATA3	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM #146255 Tags
Green Green List (high evidence)	GATM	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green KidGen_Tubulopathies v38.1.0 NHS GMS Disease associations Fanconi renotubular syndrome 1, MIM# 134600 Tags
Green Green List (high evidence)	GCM2	3 reviews 3 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Victorian Clinical Genetics Services Disease associations Hyperparathyroidism 4, OMIM #617343 Hypoparathyroidism, familial isolated 2, OMIM #618883 Tags
Green Green List (high evidence)	GLA	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green KidGen_MetabolicRenal v38.1.0 Disease associations Fabry disease (MIM# 301500) Tags
Green Green List (high evidence)	GNA11	3 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red KidGen_CalcPhos v38.1.0 Victorian Clinical Genetics Services Disease associations Hypocalciuric hypercalcemia, type II MIM#145981 Hypocalcemia, autosomal dominant 2 MIM#615361 Tags
Green Green List (high evidence)	GNAS	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert list Expert Review Green Disease associations 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) Tags
Green Green List (high evidence)	GRHPR	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hyperoxaluria, primary, type II, MIM# 260000 MONDO:0009824 Tags
Green Green List (high evidence)	HNF1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Renal cysts and diabetes syndrome, MIM#137920 Tags
Green Green List (high evidence)	HNF4A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Tubulopathies v38.1.0 Disease associations MODY, type I, OMIM # 125850 Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026 Tags
Green Green List (high evidence)	HOGA1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_MetabolicRenal v38.1.0 Victorian Clinical Genetics Services Disease associations Hyperoxaluria, primary, type III MIM#613616 Tags
Green Green List (high evidence)	HPRT1	1 review 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations HPRT-related gout (MIM# 300323) Lesch-Nyhan syndrome (MIM# 300322) Tags
Green Green List (high evidence)	HSD11B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Disease associations MONDO:0009025 Apparent mineralocorticoid excess, MIM# 218030 Tags
Green Green List (high evidence)	HSD3B2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810 Tags
Green Green List (high evidence)	KCNA1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Magnesium v38.1.0 Victorian Clinical Genetics Services Disease associations Epilepsy, MONDO:0005027, KCNA1-related Episodic ataxia/myokymia syndrome, MIM# 160120 Tags
Green Green List (high evidence)	KCNJ1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Bartter syndrome, type 2, MIM#241200 Tags
Green Green List (high evidence)	KCNJ10	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Magnesium v38.1.0 Victorian Clinical Genetics Services Disease associations SESAME syndrome, MIM# 612780 Tags
Green Green List (high evidence)	KCNJ16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations deafness Renal tubulopathy Inherited renal tubular disease, MONDO:0015962, KCNJ16-related Tags
Green Green List (high evidence)	KCNJ5	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Disease associations Hyperaldosteronism, familial, type III, MIM# 613677 Tags
Green Green List (high evidence)	KLHL3	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Disease associations Pseudohypoaldosteronism, type IID, MIM# 614495 Tags
Green Green List (high evidence)	LCAT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_MetabolicRenal v38.1.0 Disease associations Norum disease MIM#245900 Fish-Eye disease, MIM# 136120 Tags
Green Green List (high evidence)	MAGED2	2 reviews 1 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Bartter syndrome, type 5, antenatal, transient, MIM# 300971 Tags
Green Green List (high evidence)	MEN1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Disease associations Multiple endocrine neoplasia 1 MIM#131100 Tags
Green Green List (high evidence)	MMUT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_MetabolicRenal v38.1.0 Victorian Clinical Genetics Services Disease associations Methylmalonic aciduria, mut(0) type, MIM# 251000 Tags
Green Green List (high evidence)	MOCOS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Xanthinuria type II, MIM#603592 Tags
Green Green List (high evidence)	NR3C1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_MetabolicRenal v38.1.0 Literature Victorian Clinical Genetics Services Disease associations Glucocorticoid resistance, OMIM # 615962 Tags
Green Green List (high evidence)	NR3C2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Disease associations Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735 MONDO:0008329 Tags
Green Green List (high evidence)	OCRL	3 reviews 2 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Dent disease 2, MIM #300555 Lowe syndrome, MIM# 309000 Tags
Green Green List (high evidence)	PCBD1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Magnesium v38.1.0 Victorian Clinical Genetics Services Disease associations Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070 Tags
Green Green List (high evidence)	PDE3A	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Disease associations Hypertension and brachydactyly syndrome, MIM# 112410 Tags
Green Green List (high evidence)	PHEX	3 reviews 3 green	X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Literature Disease associations Hypophosphatemic rickets, X-linked dominant OMIM #307800 Tags
Green Green List (high evidence)	PTH	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Hypoparathyroidism, familial isolated 1, MIM# 146200 Tags
Green Green List (high evidence)	PTH1R	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Victorian Clinical Genetics Services Disease associations Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400 Failure of tooth eruption, primary MIM#125350 Eiken syndrome MIM#600002 Chondrodysplasia, Blomstrand type MIM#215045 Tags
Green Green List (high evidence)	RET	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Expert Review Green Disease associations Multiple endocrine neoplasia IIB, MIM# 162300 Multiple endocrine neoplasia IIA, MIM# 171400 Tags
Green Green List (high evidence)	RMND1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_MetabolicRenal v38.1.0 Disease associations Combined oxidative phosphorylation deficiency 11 MIM#614922 Tags
Green Green List (high evidence)	RRAGD	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Disease associations Inherited renal tubular disease, MONDO:0015962, RRAGD-related dilated cardiomyopathy hypomagnesaemia renal salt-wasting nephrocalcinosis Tags
Green Green List (high evidence)	RRM2B	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_MetabolicRenal v38.1.0 Victorian Clinical Genetics Services Disease associations 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 Tags
Green Green List (high evidence)	SARS2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Magnesium v38.1.0 KidGen_MetabolicRenal v38.1.0 Victorian Clinical Genetics Services Disease associations neurodevelopmental disorder MONDO#070009, SARS1-related Tags
Green Green List (high evidence)	SCN4A	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations 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 Tags
Green Green List (high evidence)	SCNN1A	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Expert Review Red KidGen_AldoHypertension v38.1.0 Disease associations Bronchiectasis with or without elevated sweat chloride 2 613021 AD Pseudohypoaldosteronism, type I 264350 AR. ?Liddle syndrome 3 618126 AD Tags
Green Green List (high evidence)	SCNN1B	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Disease associations Pseudohypoaldosteronism, type I, MIM# 264350 Liddle syndrome 1, MIM# 177200 Tags
Green Green List (high evidence)	SCNN1G	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Disease associations Pseudohypoaldosteronism, type I, MIM# 264350 Liddle syndrome 2, MIM# 618114 Tags
Green Green List (high evidence)	SLC12A1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Bartter syndrome, type 1, OMIM #601678 Tags
Green Green List (high evidence)	SLC12A3	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Gitelman syndrome, MIM# 263800 Tags
Green Green List (high evidence)	SLC22A12	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Hypouricemia, renal, MIM# 220150, MONDO:0020728 Tags
Green Green List (high evidence)	SLC2A2	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Tubulopathies v38.1.0 Disease associations Fanconi-Bickel syndrome, MIM# 227810 Tags
Green Green List (high evidence)	SLC2A9	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Tubulopathies v38.1.0 Victorian Clinical Genetics Services Disease associations Hypouricaemia, renal, 2, MIM# 612076 Tags
Green Green List (high evidence)	SLC34A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Victorian Clinical Genetics Services Disease associations Nephrolithiasis/osteoporosis, hypophosphatemic, 1 612286 Hypercalcaemia, infantile, 2 MIM#616963 Tags
Green Green List (high evidence)	SLC34A3	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Victorian Clinical Genetics Services Disease associations Hypophosphataemic rickets with hypercalciuria, (MIM#241530) Tags
Green Green List (high evidence)	SLC3A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Cystinuria, MIM# 220100 Tags
Green Green List (high evidence)	SLC4A1	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Tubulopathies v38.1.0 Disease associations Distal renal tubular acidosis 4 with haemolytic anaemia, MIM# 611590 MONDO:0012700 MONDO:0008368 Distal renal tubular acidosis 1, MIM# 179800 Tags
Green Green List (high evidence)	SLC4A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Tubulopathies v38.1.0 Disease associations Hemiplegic migraine Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278 Tags
Green Green List (high evidence)	SLC5A2	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Disease associations Renal glucosuria, MIM# 233100 Tags
Green Green List (high evidence)	SLC6A19	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Disease associations Hyperglycinuria, MIM# 138500 Hartnup disorder, MIM# 234500 Iminoglycinuria, MIM# 242600 Tags
Green Green List (high evidence)	SLC7A7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_MetabolicRenal v38.1.0 Disease associations Lysinuric protein intolerance, MIM# 222700 Tags
Green Green List (high evidence)	SLC7A9	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Cystinuria, MIM# 220100 Tags
Green Green List (high evidence)	STRADA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Polyhydramnios, megalencephaly, and symptomatic epilepsy OMIM #611087 Tags
Green Green List (high evidence)	STX16	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert list Expert Review Green Disease associations Pseudohypoparathyroidism, type IB, MIM#603233 Tags
Green Green List (high evidence)	TBCE	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Disease associations Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410 Tags
Green Green List (high evidence)	TRPM6	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Magnesium v38.1.0 Disease associations Hypomagnesaemia 1, intestinal (MIM#602014) Tags
Green Green List (high evidence)	TRPM7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Familial primary hypomagnesemia, MONDO:0018100, TRPM7-related Tags
Green Green List (high evidence)	UMOD	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Disease associations Hyperuricemic nephropathy, familial juvenile 1, MIM# 162000 Tags
Green Green List (high evidence)	VDR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red KidGen_CalcPhos v38.1.0 Victorian Clinical Genetics Services Disease associations Rickets, vitamin D-resistant, type IIA, MIM# 277440 Tags
Green Green List (high evidence)	VIPAS39	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Tubulopathies v38.1.0 Disease associations Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404 Tags
Green Green List (high evidence)	VPS33B	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Tubulopathies v38.1.0 Disease associations Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085) Tags
Green Green List (high evidence)	WDR72	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Disease associations Amelogenesis imperfecta, type IIA3, MIM# 613211 Distal RTA Tags
Green Green List (high evidence)	WNK1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Disease associations Pseudohypoaldosteronism 2C (PHA2C), MIM#614492 Tags
Green Green List (high evidence)	WNK4	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Disease associations Pseudohypoaldosteronism, type IIB, MIM# 614491 Tags
Green Green List (high evidence)	XDH	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Disease associations Xanthinuria, type I (MIM#278300) Tags
Amber Amber List (moderate evidence)	ADCY10	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Expert Review Red Victorian Clinical Genetics Services Disease associations Hypercalciuria, absorptive, susceptibility to, MIM#143870 Tags
Amber Amber List (moderate evidence)	CLCNKA	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber KidGen_Tubulopathies v38.1.0 Victorian Clinical Genetics Services Disease associations Bartter syndrome, type 4b, digenic OMIM #613090 Tags
Amber Amber List (moderate evidence)	FXYD2	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber KidGen_Magnesium v38.1.0 Disease associations Renal hypomagnesemia 2 MONDO:0007937 Tags
Amber Amber List (moderate evidence)	KL	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Amber KidGen_CalcPhos v38.1.0 Disease associations Hyperphosphatemia Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994 Tags
Amber Amber List (moderate evidence)	NDUFAF6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Disease associations Fanconi renotubular syndrome 5, MIM# 618913 Tags
Amber Amber List (moderate evidence)	OXGR1	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Disease associations Nephrolithiasis, calcium oxalate, 2, with nephrocalcinosis, MIM# 620374 Tags
Amber Amber List (moderate evidence)	SLC1A1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Disease associations Dicarboxylic aminoaciduria, MIM# 222730 Tags
Amber Amber List (moderate evidence)	SLC36A2	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Victorian Clinical Genetics Services Disease associations Iminoglycinuria, digenic MIM#242600 Hyperglycinuria MIM#138500 Disorders of amino acid transport Tags
Amber Amber List (moderate evidence)	TFCP2L1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Disease associations Inherited renal tubular disease, MONDO:0015962, TFGP2L1-related Tags
Red Red List (low evidence)	ATP6V1C2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations Distal renal tubular acidosis Tags
Red Red List (low evidence)	EGF	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red KidGen_Magnesium v38.1.0 Disease associations Hypomagnesemia 4, renal, MIM#611718 Tags
Red Red List (low evidence)	EGFR	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red KidGen_Magnesium v38.1.0 Disease associations Inflammatory skin and bowel disease, neonatal, 2 OMIM # 616069 Tags
Red Red List (low evidence)	NHERF1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red KidGen_CalcPhos v38.1.0 Victorian Clinical Genetics Services Disease associations Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287 Tags refuted
Red Red List (low evidence)	SLC25A25	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Nephrolithiasis MONDO:0008171,SLC25A25 related Tags
Red Red List (low evidence)	SLC26A1	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red KidGen_MetabolicRenal v38.1.0 Victorian Clinical Genetics Services Disease associations Nephrolithiasis, calcium oxalate, MIM#167030 Tags disputed
Red Red List (low evidence)	SLC6A20	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Disease associations Hyperglycinuria, MIM# 138500 Tags
Red Red List (low evidence)	SLC6A6	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Disease associations Primary hyperoxaluria, MONDO:0002474, SLC26A6-related Tags
Red Red List (low evidence)	TRPV5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Disease associations TRPV5-related hypercalciuria (MONDO:0009550) Tags

Renal Tubulopathies and related disorders (Version 2.0)

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