Renal Tubulopathies and related disorders (Version 1.14)

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

19 reviewers

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

131 Entities

131 reviewed, 116 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 131 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Charcot-Marie-Tooth disease, axonal, type 2DD, OMIM #618036 Hypomagnesemia, seizures, and mental retardation 2, OMIM #618314 Tags
Green Green List (high evidence)	ATP6V0A4	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal tubular acidosis, distal, autosomal recessive, MIM#602722 Tags
Green Green List (high evidence)	ATP6V1B1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Tubulopathies v38.1.0 Victorian Clinical Genetics Services Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Fanconi renotubular syndrome 1, MIM# 134600 Tags
Green Green List (high evidence)	GCM2	3 reviews 3 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert list Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes SESAME syndrome, MIM# 612780 Tags
Green Green List (high evidence)	KCNJ16	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Lecithin:Cholesterol Acyltransferase Deficiency, 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 Phenotypes 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 Phenotypes Multiple endocrine neoplasia 1 MIM#131100 Tags
Green Green List (high evidence)	MOCOS	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Xanthinuria type II, MIM#603592 Tags
Green Green List (high evidence)	MUT	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_MetabolicRenal v38.1.0 Victorian Clinical Genetics Services Phenotypes Methylmalonic aciduria, mut(0) type, MIM# 251000 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Hypophosphataemic rickets with hypercalciuria, (MIM#241530) Tags
Green Green List (high evidence)	SLC36A2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Iminoglycinuria, digenic MIM#242600 Hyperglycinuria MIM#138500 Disorders of amino acid transport 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Cystinuria, MIM# 220100 Tags
Green Green List (high evidence)	STRADA	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Hypomagnesaemia 1, intestinal (MIM#602014) 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Bartter syndrome, type 4b, digenic OMIM #613090 Tags
Amber Amber List (moderate evidence)	FXYD2	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber KidGen_Magnesium v38.1.0 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes 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 Phenotypes Dicarboxylic aminoaciduria, MIM# 222730 Tags
Red Red List (low evidence)	ATP6V1C2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes 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 Phenotypes 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 Phenotypes Inflammatory skin and bowel disease, neonatal, 2 OMIM # 616069 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 Phenotypes Nephrolithiasis, calcium oxalate, MIM#167030 Tags
Red Red List (low evidence)	SLC6A20	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes 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 Phenotypes Primary hyperoxaluria, MONDO:0002474, SLC26A6-related Tags
Red Red List (low evidence)	SLC9A3R1	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red KidGen_CalcPhos v38.1.0 Victorian Clinical Genetics Services Phenotypes Nephrolithiasis/osteoporosis, hypophosphatemic, 2, MIM# 612287 Tags refuted
Red Red List (low evidence)	TRPV5	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes TRPV5-related hypercalciuria (MONDO:0009550) Tags

Major version comments

2022-12-02 01:57 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
Fully reviewed and promoted to V1

Renal Tubulopathies and related disorders (Version 1.14)

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