Kidneyome_SuperPanel (Version 9.93)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 549 Entitiess
Green Green List (high evidence)	ACE Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Renal tubular dysgenesis, MIM# 267430 Tags
Green Green List (high evidence)	ACTG2 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Visceral myopathy, MIM# 155310 Tags
Green Green List (high evidence)	ACTN4 Proteinuria v0.231	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glomerulosclerosis, focal segmental, 1, MIM#603278 Tags
Green Green List (high evidence)	AFF3 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes KINSSHIP syndrome, MIM# 619297 Tags
Green Green List (high evidence)	AGT Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal tubular dysgenesis, MIM# 267430 Tags
Green Green List (high evidence)	AGTR1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal tubular dysgenesis, MIM# 267430 Tags
Green Green List (high evidence)	AGXT Renal Tubulopathies and related disorders v1.22	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Expert list Victorian Clinical Genetics Services Phenotypes MONDO:0009823 Hyperoxaluria, primary, type 1, MIM# 259900 Tags
Green Green List (high evidence)	AHI1 Renal Ciliopathies and Nephronophthisis v1.46	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Joubert syndrome 3, MIM#608629 Tags
Green Green List (high evidence)	AIRE Renal Tubulopathies and related disorders v1.22	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Phenotypes Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia, OMIM #240300 Tags
Green Green List (high evidence)	ALG5 Renal Macrocystic Disease v0.100	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Polycystic kidney disease 7, MIM# 620056 Multiple small kidney cysts, progressive interstitial fibrosis, and kidney function decline Tags
Green Green List (high evidence)	ALG8 Renal Macrocystic Disease v0.100	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Polycystic liver disease 3 with or without kidney cysts, MIM# 617874 Tags
Green Green List (high evidence)	ALG9 Renal Macrocystic Disease v0.100	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Congenital disorder of glycosylation, type Il, MIM#608776 Gillessen-Kaesbach-Nishimura syndrome, MIM#263210 Polycystic kidney disease ALG9-associated autosomal dominant polycystic kidney disease MONDO:0700000 Tags
Green Green List (high evidence)	ALMS1 Proteinuria v0.231	2 reviews 2 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	ALPL Renal Tubulopathies and related disorders v1.22	4 reviews 4 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list 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 Renal Tubulopathies and related disorders v1.22	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 Expert Review Expert Review Phenotypes Midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis, MIM# 300990 Tags
Green Green List (high evidence)	AMN Proteinuria v0.231	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Megaloblastic anemia-1, Norwegian type, MIM#261100 Tags
Green Green List (high evidence)	ANKS6 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Nephronophthisis 16, MIM# 615382 MONDO:0014158 Tags
Green Green List (high evidence)	ANOS1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	AP2S1 Renal Tubulopathies and related disorders v1.22	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_CalcPhos v38.1.0 KidGen_CalcPhos v38.1.0 Phenotypes Hypocalciuric hypercalcaemia, type III, MIM# 600740 MONDO:0010926 Tags
Green Green List (high evidence)	APOA1 Amyloidosis v1.1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Phenotypes Amyloidosis, 3 or more types, MIM#105200 Tags
Green Green List (high evidence)	APOA4 Amyloidosis v1.1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Literature Phenotypes Hereditary amyloidosis, MONDO:0018634, APOA4-related Tubulointerstitial kidney disease, autosomal dominant 6, MIM# 621106 Tags
Green Green List (high evidence)	APOE Proteinuria v0.231	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Lipoprotein glomerulopathy, MIM#611771 Tags
Green Green List (high evidence)	APRT Renal Tubulopathies and related disorders v1.22	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Adenine phosphoribosyltransferase deficiency, MIM#614723 Tags
Green Green List (high evidence)	AQP2 Renal Tubulopathies and related disorders v1.22	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Diabetes insipidus, nephrogenic MIM#125800 Tags
Green Green List (high evidence)	ARHGDIA Proteinuria v0.231	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	ARL13B Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Joubert syndrome 8, MIM# 612291 Tags
Green Green List (high evidence)	ARL6 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome 3, MIM# 600151 Tags
Green Green List (high evidence)	ATP1A1 Renal Tubulopathies and related disorders v1.22	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature 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 Renal Tubulopathies and related disorders v1.22	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Renal tubular acidosis, distal, autosomal recessive, MIM#602722 Tags
Green Green List (high evidence)	ATP6V1B1 Renal Tubulopathies and related disorders v1.22	2 reviews 2 green	BOTH monoallelic and 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 Renal Tubulopathies and related disorders v1.22	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Diabetes insipidus, neurohypophyseal MIM#125700 Tags
Green Green List (high evidence)	AVPR2 Renal Tubulopathies and related disorders v1.22	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 Review Green KidGen_Tubulopathies v38.1.0 Expert Review Green Expert list Phenotypes Nephrogenic syndrome of inappropriate antidiuresis 300539 Diabetes insipidus, nephrogenic 304800 Tags
Green Green List (high evidence)	B2M Amyloidosis v1.1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes variant ABeta2M amyloidosis MONDO:0017810 Tags
Green Green List (high evidence)	B9D1 Renal Ciliopathies and Nephronophthisis v1.46	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Ciliopathy, MONDO:0005308, B9D1-related Tags
Green Green List (high evidence)	BBIP1 Renal Ciliopathies and Nephronophthisis v1.46	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome 18, MIM#615995 Tags
Green Green List (high evidence)	BBS1 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 1, MIM# 209900 Tags
Green Green List (high evidence)	BBS10 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 10, MIM# 615987 Tags
Green Green List (high evidence)	BBS12 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 12, MIM# 615989 Tags
Green Green List (high evidence)	BBS2 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 2, MIM# 615981 Tags
Green Green List (high evidence)	BBS4 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome 4, MIM#615982 MONDO:0014433 Tags
Green Green List (high evidence)	BBS5 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome 5, MIM#615983 MONDO:0014434 Tags
Green Green List (high evidence)	BBS7 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome 7, MIM# 615984 MONDO:0014435 Tags
Green Green List (high evidence)	BBS9 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome 9, MIM#615986 MONDO:0014437 Tags
Green Green List (high evidence)	BCS1L Renal Tubulopathies and related disorders v1.22	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_MetabolicRenal v38.1.0 Expert Review Green Expert Review Green Literature Royal Melbourne Hospital KidGen_MetabolicRenal v38.1.0 Expert Review Green 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)	BMP4 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes CAKUT Tags
Green Green List (high evidence)	BNC2 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Literature Phenotypes Lower urinary tract obstruction, congenital OMIM #618612 Tags
Green Green List (high evidence)	BSND Renal Tubulopathies and related disorders v1.22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Phenotypes Bartter syndrome, type 4a, MIM# 602522 Tags
Green Green List (high evidence)	C1GALT1C1 Atypical Haemolytic Uraemic Syndrome_MPGN v0.55	3 reviews 1 green 1 red	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Haemolytic uraemic syndrome, atypical, 8, with rhizomelic short stature, MIM# 301110 Tags
Green Green List (high evidence)	C3 Atypical Haemolytic Uraemic Syndrome_MPGN v0.55	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to, 5}, MIM# 612925 Tags
Green Green List (high evidence)	CA2 Renal Tubulopathies and related disorders v1.22	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 Hypertension and Aldosterone disorders v1.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Phenotypes Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474 MONDO:0014200 Tags
Green Green List (high evidence)	CACNA1D Renal Tubulopathies and related disorders v1.22	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 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 Hypertension and Aldosterone disorders v1.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Phenotypes Hyperaldosteronism, familial, type IV MIM#617027 MONDO:0014875 Tags
Green Green List (high evidence)	CACNA1H Renal Tubulopathies and related disorders v1.22	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 Renal Tubulopathies and related disorders v1.22	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 Renal Tubulopathies and related disorders v1.22	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green 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)	CC2D2A Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Meckel syndrome 6, MIM# 612284 Tags
Green Green List (high evidence)	CD151 Proteinuria v0.231	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Phenotypes Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057 Tags
Green Green List (high evidence)	CD2AP Proteinuria v0.231	3 reviews	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes focal segmental glomerulosclerosis 3, susceptibility to MONDO:0011917 Tags
Green Green List (high evidence)	CD46 Atypical Haemolytic Uraemic Syndrome_MPGN v0.55	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes {Susceptibility to atypical hemolytic uremic syndrome 2} (MIM#612922), AD, AR Atypical hemolytic uremic syndrome 2 Tags
Green Green List (high evidence)	CDC73 Renal Tubulopathies and related disorders v1.22	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Expert Review Green Expert Review Green 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 Renal Tubulopathies and related disorders v1.22	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Expert Review Green Literature Phenotypes Multiple endocrine neoplasia type 4, MEN4, OMIM #610755 Tags
Green Green List (high evidence)	CDX2 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Genetic multiple congenital anomalies/dysmorphic syndrome, MONDO:0043005 Congenital abnormalities of anus, renal and urogenital system, vertebrae and/or the limbs Tags
Green Green List (high evidence)	CELSR3 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), CELSR3-related Tags
Green Green List (high evidence)	CENPF Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Stromme syndrome, MIM#243605 Tags
Green Green List (high evidence)	CEP164 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome Nephronophthisis 15, MIM# 614845 Oro-facio-digital syndrome Tags
Green Green List (high evidence)	CEP290 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Senior-Loken syndrome 6, MIM# 610189 Tags
Green Green List (high evidence)	CEP55 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM#236500 Tags
Green Green List (high evidence)	CEP83 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Nephronophthisis 18, MIM# 615862 MONDO:0014374 Retinal dystrophy ID Tags
Green Green List (high evidence)	CFB Atypical Haemolytic Uraemic Syndrome_MPGN v0.55	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Haemolytic uremic syndrome, atypical, susceptibility to, 4, MIM# 612924 Tags
Green Green List (high evidence)	CFH Atypical Haemolytic Uraemic Syndrome_MPGN v0.55	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CFHR1 Atypical Haemolytic Uraemic Syndrome_MPGN v0.55	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400 Tags SV/CNV
Green Green List (high evidence)	CFHR2 Atypical Haemolytic Uraemic Syndrome_MPGN v0.55	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes C3 glomerulopathy C3G Immune complex MPGN IC-MPGN Tags SV/CNV
Green Green List (high evidence)	CFHR3 Atypical Haemolytic Uraemic Syndrome_MPGN v0.55	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400 Tags SV/CNV
Green Green List (high evidence)	CFHR5 Atypical Haemolytic Uraemic Syndrome_MPGN v0.55	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Tags SV/CNV
Green Green List (high evidence)	CFI Atypical Haemolytic Uraemic Syndrome_MPGN v0.55	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	CHD7 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CHARGE syndrome MIM#214800 Tags
Green Green List (high evidence)	CHRNA3 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800 Tags
Green Green List (high evidence)	CLCN2 Hypertension and Aldosterone disorders v1.17	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)	CLCN2 Renal Tubulopathies and related disorders v1.22	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Expert Review Green KidGen_AldoHypertension v38.1.0 Phenotypes Hyperaldosteronism, familial, type II 605635 Tags
Green Green List (high evidence)	CLCN5 Proteinuria v0.231	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 Expert list Phenotypes Dent disease, MIM#300009 Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990 Tags
Green Green List (high evidence)	CLCN5 Renal Tubulopathies and related disorders v1.22	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 Review Green Victorian Clinical Genetics Services Expert Review Green 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 Renal Tubulopathies and related disorders v1.22	4 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Expert Review 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 Renal Tubulopathies and related disorders v1.22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Magnesium v38.1.0 Expert Review Green KidGen_Magnesium v38.1.0 Phenotypes HELIX syndrome, MIM#617671 Tags
Green Green List (high evidence)	CLDN16 Renal Tubulopathies and related disorders v1.22	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 Renal Tubulopathies and related disorders v1.22	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 Renal Tubulopathies and related disorders v1.22	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)	COL4A1 Haematuria_Alport v1.2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM#611773 Tags
Green Green List (high evidence)	COL4A1 Renal Macrocystic Disease v0.100	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Angiopathy, hereditary, with nephropathy, aneurysms, and muscle cramps, MIM# 611773 Tags
Green Green List (high evidence)	COL4A3 Proteinuria v0.231	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	COL4A3 Haematuria_Alport v1.2	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alport syndrome 2, autosomal recessive, MIM# 203780 Alport syndrome 3, autosomal dominant, MIM# 104200 Tags Medicare
Green Green List (high evidence)	COL4A4 Haematuria_Alport v1.2	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alport syndrome 2, autosomal recessive, 203780 Thin basement membrane nephropathy (TBMN), AD Focal segmental glomerulosclerosis (FSGS), AD Tags Medicare
Green Green List (high evidence)	COL4A4 Proteinuria v0.231	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	COL4A5 Haematuria_Alport v1.2	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 Alport syndrome 1, X-linked, MIM# 301050 Tags Medicare
Green Green List (high evidence)	COL4A5 Proteinuria v0.231	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 Alport syndrome 1, X-linked, MIM# 301050 Tags
Green Green List (high evidence)	COQ2 Proteinuria v0.231	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	COQ6 Proteinuria v0.231	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	COQ8B Proteinuria v0.231	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Phenotypes Nephrotic syndrome, type 9, MIM#615573 Tags
Green Green List (high evidence)	CPT2 Renal Tubulopathies and related disorders v1.22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_MetabolicRenal v38.1.0 Expert Review Green KidGen_MetabolicRenal v38.1.0 Expert Review Green 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)	CRB2 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Ventriculomegaly with cystic kidney disease, MIM# 219730 Tags
Green Green List (high evidence)	CRB2 Proteinuria v0.231	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Ventriculomegaly with cystic kidney disease, MIM# 219730 Tags
Green Green List (high evidence)	CSPP1 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Joubert syndrome 21, MIM# 615636 MONDO:0014288 Tags
Green Green List (high evidence)	CTNS Renal Tubulopathies and related disorders v1.22	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Expert Review Green Expert Review Green Expert list Phenotypes Cystinosis, nephropathic MIM#219800 Tags
Green Green List (high evidence)	CTU2 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome Tags
Green Green List (high evidence)	CUBN Proteinuria v0.231	2 reviews 2 green	Unknown	Sources Expert Review Green NHS GMS Victorian Clinical Genetics Services Expert Review Green Tags treatable
Green Green List (high evidence)	CUL3 Renal Tubulopathies and related disorders v1.22	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Expert Review Green KidGen_AldoHypertension v38.1.0 Phenotypes Pseudohypoaldosteronism, type IIE, MIM# 614496 Tags
Green Green List (high evidence)	CUL3 Hypertension and Aldosterone disorders v1.17	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 Hypertension and Aldosterone disorders v1.17	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Aldosteronism, glucocorticoid-remediable, MIM# 103900 Tags treatable
Green Green List (high evidence)	CYP11B1 Renal Tubulopathies and related disorders v1.22	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert Review Green Expert Review Phenotypes Aldosteronism, glucocorticoid-remediable, MIM# 103900 Tags
Green Green List (high evidence)	CYP11B2 Renal Tubulopathies and related disorders v1.22	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)	CYP11B2 Hypertension and Aldosterone disorders v1.17	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 treatable
Green Green List (high evidence)	CYP17A1 Hypertension and Aldosterone disorders v1.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110 Tags
Green Green List (high evidence)	CYP17A1 Renal Tubulopathies and related disorders v1.22	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Expert Review Green KidGen_MetabolicRenal v38.1.0 Expert Review Green Victorian Clinical Genetics Services Phenotypes 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110 Tags
Green Green List (high evidence)	CYP21A2 Hypertension and Aldosterone disorders v1.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910 Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910 Tags
Green Green List (high evidence)	CYP21A2 Renal Tubulopathies and related disorders v1.22	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Expert Review Green KidGen_MetabolicRenal v38.1.0 Expert Review Green 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 Renal Tubulopathies and related disorders v1.22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypercalcaemia, infantile, 1, MIM# 143880 MONDO:0020739 Tags
Green Green List (high evidence)	CYP27B1 Renal Tubulopathies and related disorders v1.22	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Expert Review Green Phenotypes Vitamin D-dependent rickets, type I MIM#264700 Tags
Green Green List (high evidence)	CYP2R1 Renal Tubulopathies and related disorders v1.22	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Expert Review Green Expert Review Green Expert list Phenotypes Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081 Tags
Green Green List (high evidence)	DAAM2 Proteinuria v0.231	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome, type 24, MIM# 619263 steroid-resistant nephrotic syndrome (SRNS) Tags
Green Green List (high evidence)	DCDC2 Renal Ciliopathies and Nephronophthisis v1.46	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Nephronophthisis 19, MIM# 616217 Tags
Green Green List (high evidence)	DGKE Proteinuria v0.231	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 7, MIM# 615008 Tags
Green Green List (high evidence)	DGKE Atypical Haemolytic Uraemic Syndrome_MPGN v0.55	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	DHCR7 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Expert Review Green Expert list Expert Review Green Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Smith-Lemli-Opitz syndrome OMIM #270400 Tags
Green Green List (high evidence)	DLC1 Proteinuria v0.231	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Neprhotic syndrome Tags
Green Green List (high evidence)	DLG5 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Yuksel-Vogel-Bauer syndrome, MIM#620703 Tags
Green Green List (high evidence)	DMP1 Renal Tubulopathies and related disorders v1.22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Expert Review Green Phenotypes Hypophosphatemic rickets MIM#241520 Tags
Green Green List (high evidence)	DNAJB11 Renal Tubulointerstitial Disease v1.7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061 Tags
Green Green List (high evidence)	DNAJB11 Renal Macrocystic Disease v0.100	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061 Ivermark II syndrome. Tags
Green Green List (high evidence)	DYNC2H1 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091 MONDO:0013127MONDO:0013127 Tags
Green Green List (high evidence)	DYRK1A Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Mental retardation, autosomal dominant 7 (MIM#614104) Tags
Green Green List (high evidence)	DZIP1L Renal Macrocystic Disease v0.100	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Polycystic kidney disease 5, MIM#617610 Tags
Green Green List (high evidence)	EHHADH Renal Tubulopathies and related disorders v1.22	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Tubulopathies v38.1.0 KidGen_Tubulopathies v38.1.0 Phenotypes Fanconi renotubular syndrome 3, MIM#615605 Tags
Green Green List (high evidence)	ENPP1 Renal Tubulopathies and related disorders v1.22	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Expert Review Green 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)	EXOC3L2 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Brain malformation renal syndrome, MIM# 620943 Tags
Green Green List (high evidence)	EYA1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	FAH Renal Tubulopathies and related disorders v1.22	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Expert Review Green Phenotypes Tyrosinemia type I MONDO:0010161 Tags
Green Green List (high evidence)	FAM111A Renal Tubulopathies and related disorders v1.22	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Magnesium v38.1.0 Expert Review Green Phenotypes autosomal dominant Kenny-Caffey syndrome MONDO:0007478 Tags
Green Green List (high evidence)	FAM20A Renal Tubulopathies and related disorders v1.22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Expert Review Green Victorian Clinical Genetics Services Phenotypes Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690 Tags
Green Green List (high evidence)	FAM20C Renal Tubulopathies and related disorders v1.22	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Expert Review Green Expert list Phenotypes MONDO:0009821 Raine syndrome, MIM# 259775 Tags
Green Green List (high evidence)	FAM58A Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 2 green	Other	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes STAR syndrome, MIM# 300707 Tags
Green Green List (high evidence)	FAN1 Renal Tubulointerstitial Disease v1.7	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Interstitial nephritis, karyomegalic, MIM# 614817 Tags
Green Green List (high evidence)	FAN1 Renal Ciliopathies and Nephronophthisis v1.46	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Interstitial nephritis, karyomegalic, MIM# 614817 Tags
Green Green List (high evidence)	FAT1 Proteinuria v0.231	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes facial dysmorphism colobomatous microphthalmia ptosis syndactyly with or without nephropathy Tags
Green Green List (high evidence)	FGA Amyloidosis v1.1	4 reviews 4 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Amyloidosis, familial visceral, MIM#105200 Tags
Green Green List (high evidence)	FGF23 Renal Tubulopathies and related disorders v1.22	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Expert Review Green Phenotypes autosomal dominant hypophosphatemic rickets MONDO:0008660 familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251 Tags
Green Green List (high evidence)	FLCN Renal Macrocystic Disease v0.100	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Birt-Hogg-Dube syndrome, MIM# 135150 Tags
Green Green List (high evidence)	FN1 Proteinuria v0.231	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Glomerulopathy with fibronectin deposits 2, MIM# 601894 Tags
Green Green List (high evidence)	FOXC1 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Congenital anomalies of the kidney and urinary tract (CAKUT),MONDO:0019719, FOXC1-related Tags
Green Green List (high evidence)	FOXI1 Renal Tubulopathies and related disorders v1.22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Literature Phenotypes autosomal recessive distal renal tubular acidosis MONDO:0018440 Tags
Green Green List (high evidence)	FOXP1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Mental retardation with language impairment and with or without autistic features, MIM# 613670 Tags
Green Green List (high evidence)	FRAS1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	FREM1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	FREM2 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	GALNT3 Renal Tubulopathies and related disorders v1.22	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)	GANAB Renal Macrocystic Disease v0.100	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Cystic v38.1.0 Phenotypes Polycystic kidney disease 3, MIM# 600666 Tags
Green Green List (high evidence)	GATA3 Renal Tubulopathies and related disorders v1.22	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM #146255 Tags
Green Green List (high evidence)	GATA3 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypoparathyroidism, sensorineural deafness, and renal dysplasia, MIM# 146255 Tags
Green Green List (high evidence)	GATM Renal Tubulopathies and related disorders v1.22	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Tubulopathies v38.1.0 Expert Review Green Expert list Expert Review Green NHS GMS Expert Review Green KidGen_Tubulopathies v38.1.0 Phenotypes Fanconi renotubular syndrome 1, MIM# 134600 Tags
Green Green List (high evidence)	GCM2 Renal Tubulopathies and related disorders v1.22	3 reviews 3 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Expert Review Green 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)	GDF6 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Syndromic CAKUT Tags
Green Green List (high evidence)	GFRA1 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Renal hypodysplasia/aplasia 4, MIM# 619887 Tags
Green Green List (high evidence)	GLA Renal Tubulopathies and related disorders v1.22	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)	GLA Proteinuria v0.231	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Fabry disease, MIM# 301500 Tags
Green Green List (high evidence)	GLI3 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	3 reviews 3 green	Unknown	Sources Expert Review Green Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	GLIS2 Renal Ciliopathies and Nephronophthisis v1.46	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Nephronophthisis 7, OMIM#611498 MONDO:0012680 Tags
Green Green List (high evidence)	GNA11 Renal Tubulopathies and related disorders v1.22	3 reviews 1 green 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Expert Review Red Victorian Clinical Genetics Services Phenotypes Hypocalciuric hypercalcemia, type II MIM#145981 Hypocalcemia, autosomal dominant 2 MIM#615361 Tags
Green Green List (high evidence)	GNAS Renal Tubulopathies and related disorders v1.22	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Expert list Expert Review Green Expert list 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)	GON7 Proteinuria v0.231	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Galloway-Mowat syndrome 9, MIM# 619603 Tags founder
Green Green List (high evidence)	GPC3 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	GPNMB Amyloidosis v1.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Other Victorian Clinical Genetics Services Phenotypes amyloidosis, primary localized cutaneous, 3 MONDO:0054765 Tags
Green Green List (high evidence)	GREB1L Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Renal hypodysplasia/aplasia 3, OMIM# 617805 Tags
Green Green List (high evidence)	GRHPR Renal Tubulopathies and related disorders v1.22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Phenotypes Hyperoxaluria, primary, type II, MIM# 260000 MONDO:0009824 Tags
Green Green List (high evidence)	GRIP1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Fraser syndrome 3 MIM#617667 CAKUT Tags
Green Green List (high evidence)	GSN Amyloidosis v1.1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Amyloidosis, Finnish type, MIM#105200 Tags
Green Green List (high evidence)	HAAO Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 1, MIM#617660 Tags
Green Green List (high evidence)	HNF1B Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Renal cysts and diabetes syndrome, MIM# 137920 Tags
Green Green List (high evidence)	HNF1B Renal Tubulopathies and related disorders v1.22	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Renal cysts and diabetes syndrome, MIM#137920 Tags
Green Green List (high evidence)	HNF1B Renal Tubulointerstitial Disease v1.7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Tubulointerstitial v38.1.0 Phenotypes Diabetes mellitus, noninsulin-dependent 125853 AD Renal cysts and diabetes syndrome 137920 AD {Renal cell carcinoma} 144700 Tags
Green Green List (high evidence)	HNF1B Renal Macrocystic Disease v0.100	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Cystic v38.1.0 Phenotypes Renal cysts and diabetes syndrome, MIM# 137920 Tags SV/CNV
Green Green List (high evidence)	HNF4A Renal Tubulopathies and related disorders v1.22	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 Renal Tubulopathies and related disorders v1.22	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green KidGen_MetabolicRenal v38.1.0 Phenotypes Hyperoxaluria, primary, type III MIM#613616 Tags
Green Green List (high evidence)	HOXA13 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	HPRT1 Renal Tubulopathies and related disorders v1.22	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)	HPSE2 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Urofacial syndrome 1 MIM#236730 Tags
Green Green List (high evidence)	HS2ST1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green NHS GMS Literature Phenotypes Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194 Tags
Green Green List (high evidence)	HSD11B2 Renal Tubulopathies and related disorders v1.22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Expert Review Green KidGen_AldoHypertension v38.1.0 Phenotypes MONDO:0009025 Apparent mineralocorticoid excess, MIM# 218030 Tags
Green Green List (high evidence)	HSD11B2 Hypertension and Aldosterone disorders v1.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Phenotypes Apparent mineralocorticoid excess, MIM# 218030 MONDO:0009025 Tags
Green Green List (high evidence)	HSD3B2 Hypertension and Aldosterone disorders v1.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810 Tags
Green Green List (high evidence)	HSD3B2 Renal Tubulopathies and related disorders v1.22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Phenotypes Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810 Tags
Green Green List (high evidence)	HSPA9 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Even-plus syndrome, MIM# 616854 skeletal anomalies congenital cardiac and renal anomalies: marked small nose Tags
Green Green List (high evidence)	IFT122 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Cranioectodermal dysplasia 1, MIM# 218330 MONDO:0021093 Tags
Green Green List (high evidence)	IFT140 Renal Ciliopathies and Nephronophthisis v1.46	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Short-rib thoracic dysplasia 9 with or without polydactyly, MIM# 266920 MONDO:0009964 Cranioectodermal dysplasia 5, MIM# 621180 {Polycystic kidney disease 9, susceptibility to} MIM#621164 Tags
Green Green List (high evidence)	IFT140 Renal Macrocystic Disease v0.100	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes {Polycystic kidney disease 9, susceptibility to} MIM#621164 Tags
Green Green List (high evidence)	IFT172 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 20, MIM# 619471 Short-rib thoracic dysplasia 10 with or without polydactyly, MIM# 615630 Tags
Green Green List (high evidence)	IFT27 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome 19, MIM#615996 Tags
Green Green List (high evidence)	IFT43 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 18 with polydactyly, MIM# 617866 Cranioectodermal dysplasia 3, MIM# 614099 Tags
Green Green List (high evidence)	IFT74 Renal Ciliopathies and Nephronophthisis v1.46	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome 20 617119 Tags
Green Green List (high evidence)	INF2 Proteinuria v0.231	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Charcot-Marie-Tooth disease, dominant intermediate E, MIM# 614455 Glomerulosclerosis, focal segmental, 5, MIM# 613237 Tags
Green Green List (high evidence)	INPP5E Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Joubert syndrome 1, MIM# 213300 MONDO:0008944 Tags
Green Green List (high evidence)	INVS Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Nephronophthisis 2, infantile, (MIM#602088) Tags
Green Green List (high evidence)	IQCB1 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Senior-Loken syndrome 5, MIM# 609254 MONDO:0012225 Tags
Green Green List (high evidence)	NPHP1 deletion ISCA-37405-Loss Region Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Expert Review Green Expert list Phenotypes Nephronophthisis 1, juvenile, MIM# 256100 Joubert syndrome 4, MIM# 609583 Senior-Loken syndrome 1, MIM# 266900 Tags SV/CNV
Green Green List (high evidence)	ITGA3 Proteinuria v0.231	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Interstitial lung disease, nephrotic syndrome, and epidermolysis bullosa, congenital, MIM# 614748 Tags
Green Green List (high evidence)	ITGA8 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal hypodysplasia/aplasia 1, MIM# 191830 Tags
Green Green List (high evidence)	ITSN1 Proteinuria v0.231	3 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Literature Phenotypes Nephrotic syndrome Tags
Green Green List (high evidence)	ITSN2 Proteinuria v0.231	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome Tags
Green Green List (high evidence)	JAG1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 1 green	Unknown	Sources Expert Review Green Literature Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	JAG1 Renal Tubulointerstitial Disease v1.7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes JAG1-related autosomal dominant tubulointerstitial kidney disease Alagille syndrome, MONDO:0007318 Tags
Green Green List (high evidence)	KANK2 Proteinuria v0.231	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Nephrotic syndrome, type 16, MIM#617783 Tags
Green Green List (high evidence)	KCNA1 Renal Tubulopathies and related disorders v1.22	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Magnesium v38.1.0 Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Phenotypes Epilepsy, MONDO:0005027, KCNA1-related Episodic ataxia/myokymia syndrome, MIM# 160120 Tags
Green Green List (high evidence)	KCNJ1 Renal Tubulopathies and related disorders v1.22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Phenotypes Bartter syndrome, type 2, MIM#241200 Tags
Green Green List (high evidence)	KCNJ10 Renal Tubulopathies and related disorders v1.22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Magnesium v38.1.0 Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Phenotypes SESAME syndrome, MIM# 612780 Tags
Green Green List (high evidence)	KCNJ16 Renal Tubulopathies and related disorders v1.22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Literature Phenotypes deafness Renal tubulopathy Inherited renal tubular disease, MONDO:0015962, KCNJ16-related Tags
Green Green List (high evidence)	KCNJ5 Renal Tubulopathies and related disorders v1.22	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Expert Review Green KidGen_AldoHypertension v38.1.0 Phenotypes Hyperaldosteronism, familial, type III, MIM# 613677 Tags
Green Green List (high evidence)	KCNJ5 Hypertension and Aldosterone disorders v1.17	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)	KDM2B Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes neurodevelopmental disorder MONDO#0700092, KDM2B-related Tags
Green Green List (high evidence)	KDM6A Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	KIF14 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Microcephaly 20, primary, autosomal recessive, OMIM #617914 ?Meckel syndrome 12, OMIM #616258 Tags
Green Green List (high evidence)	KLHL3 Renal Tubulopathies and related disorders v1.22	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Expert Review Green KidGen_AldoHypertension v38.1.0 Phenotypes Pseudohypoaldosteronism, type IID, MIM# 614495 Tags
Green Green List (high evidence)	KLHL3 Hypertension and Aldosterone disorders v1.17	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)	KMT2D Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	KYNU Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 2, MIM#617661 Tags
Green Green List (high evidence)	LAGE3 Proteinuria v0.231	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 2, X-linked, MIM# 301006 Tags
Green Green List (high evidence)	LAMA5 Proteinuria v0.231	5 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 26 620049 Tags
Green Green List (high evidence)	LAMB2 Proteinuria v0.231	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes Pierson syndrome, MIM# 609049 Nephrotic syndrome, type 5, with or without ocular abnormalities, MIM# 614199 Tags
Green Green List (high evidence)	LCAT Proteinuria v0.231	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Expert list Phenotypes Norum disease, MIM# 245900 Tags
Green Green List (high evidence)	LCAT Renal Tubulopathies and related disorders v1.22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_MetabolicRenal v38.1.0 Expert Review Green Phenotypes Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900 Fish-Eye disease, MIM# 136120 Tags
Green Green List (high evidence)	LIFR Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	4 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CAKUT MONDO:0019719, LIFR-related Tags
Green Green List (high evidence)	LMX1B Proteinuria v0.231	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nail-patella syndrome (MIM#161200), MONDO:0008061 LMX1B-related nephropathy Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020 Tags
Green Green List (high evidence)	LRIG2 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Urofacial syndrome 2, MIM# 615112 Tags
Green Green List (high evidence)	LRP2 Proteinuria v0.231	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Donnai-Barrow syndrome, MIM#222448 Tags
Green Green List (high evidence)	LRP4 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 2 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	LYZ Amyloidosis v1.1	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Amyloidosis, renal, MIM#105200 Tags
Green Green List (high evidence)	LZTFL1 Renal Ciliopathies and Nephronophthisis v1.46	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome 17 (MIM#615994) Tags
Green Green List (high evidence)	MAFB Proteinuria v0.231	3 reviews 3 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Multicentric carpotarsal osteolysis syndrome, OMIM#166300 Tags
Green Green List (high evidence)	MAGED2 Renal Tubulopathies and related disorders v1.22	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 Expert Review Green Victorian Clinical Genetics Services Phenotypes Bartter syndrome, type 5, antenatal, transient, MIM# 300971 Tags
Green Green List (high evidence)	MAGI2 Proteinuria v0.231	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 15, MIM# 617609 Tags
Green Green List (high evidence)	MAPKBP1 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Nephronophthisis 20, MIM# 617271 MONDO:0014997 Tags
Green Green List (high evidence)	MEN1 Renal Tubulopathies and related disorders v1.22	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert list Expert list Phenotypes Multiple endocrine neoplasia 1 MIM#131100 Tags
Green Green List (high evidence)	MKKS Renal Ciliopathies and Nephronophthisis v1.46	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome 6 (MIM#605231) McKusick-Kaufman syndrome, MIM# 236700 Tags
Green Green List (high evidence)	MKS1 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 13, MIM# 615990 MONDO:0014441 Meckel syndrome 1, MIM# 249000 Tags
Green Green List (high evidence)	MMACHC Atypical Haemolytic Uraemic Syndrome_MPGN v0.55	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Phenotypes Methylmalonic aciduria and homocystinuria, cblC type, MIM#277400 Tags treatable
Green Green List (high evidence)	MOCOS Renal Tubulopathies and related disorders v1.22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Expert Review Phenotypes Xanthinuria type II, MIM#603592 Tags
Green Green List (high evidence)	MTX2 Hypertension and Aldosterone disorders v1.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Mandibuloacral dysplasia progeroid syndrome, MIM# 619127 Mandibuloacral dysplasia lipodystrophy arterial calcification Tags
Green Green List (high evidence)	MUC1 Renal Tubulointerstitial Disease v1.7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Tubulointerstitial v38.1.0 Phenotypes Medullary cystic kidney disease 1, MIM# 174000 Tags
Green Green List (high evidence)	MUC1 Renal Macrocystic Disease v0.100	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Cystic v38.1.0 Phenotypes Medullary cystic kidney disease 1 (MIM#174000) Tags VNTR
Green Green List (high evidence)	MUT Renal Tubulopathies and related disorders v1.22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_MetabolicRenal v38.1.0 KidGen_MetabolicRenal v38.1.0 Victorian Clinical Genetics Services Phenotypes Methylmalonic aciduria, mut(0) type, MIM# 251000 Tags
Green Green List (high evidence)	MYH9 Haematuria_Alport v1.2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100 Tags
Green Green List (high evidence)	MYH9 Proteinuria v0.231	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	MYO1E Proteinuria v0.231	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glomerulosclerosis, focal segmental, 6, MIM# 614131 Tags
Green Green List (high evidence)	MYOCD Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Megabladder congenital heart disease cardiomyopathy Tags
Green Green List (high evidence)	NADSYN1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 3, MONDO:0030077 Vertebral, cardiac, renal, and limb defects syndrome 3, OMIM:618845 Tags
Green Green List (high evidence)	NEK1 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Short-rib thoracic dysplasia 6 with or without polydactyly, MIM# 263520 Tags
Green Green List (high evidence)	NEK8 Renal Ciliopathies and Nephronophthisis v1.46	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Renal-hepatic-pancreatic dysplasia 2, MIM# 615415 MONDO:0014174 Familial renal cystic disease MONDO:0019741, NEK8-related, dominant Tags
Green Green List (high evidence)	NEK8 Renal Macrocystic Disease v0.100	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes Polycystic kidney disease 8, MIM# 620903 Tags
Green Green List (high evidence)	NFIA Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Brain malformations with or without urinary tract defects - MIM#613735 Tags
Green Green List (high evidence)	NIPBL Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	NLRP3 Amyloidosis v1.1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Muckle-Wells syndrome, MIM#191900 Tags
Green Green List (high evidence)	NOS1AP Proteinuria v0.231	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome, type 22, MIM# 619155 Tags
Green Green List (high evidence)	NOTCH2 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Alagille syndrome 2 (MIM#610205) Hajdu-Cheney syndrome (MIM#102500) Tags
Green Green List (high evidence)	NPHP1 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Nephronophthisis 1, juvenile, MIM# 256100 Tags SV/CNV
Green Green List (high evidence)	NPHP3 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Nephronophthisis 3, MIM# 604387 Renal-hepatic-pancreatic dysplasia 1, MIM# 208540 Tags
Green Green List (high evidence)	NPHP3 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal-hepatic-pancreatic dysplasia 1, MIM# 208540 Tags
Green Green List (high evidence)	NPHP4 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Nephronophthisis 4, MIM# 606966 Senior-Loken syndrome 4, MIM# 606996 Tags
Green Green List (high evidence)	NPHS1 Proteinuria v0.231	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	NPHS2 Proteinuria v0.231	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 2 (MIM#600995), AR Tags
Green Green List (high evidence)	NPNT Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Renal agenesis, MONDO:0018470, NPNT-related Tags
Green Green List (high evidence)	NPR1 Hypertension and Aldosterone disorders v1.17	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Genetic hypertension MONDO:0015512 Tags
Green Green List (high evidence)	NR3C1 Hypertension and Aldosterone disorders v1.17	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Glucocorticoid resistance, OMIM # 615962 Tags
Green Green List (high evidence)	NR3C1 Renal Tubulopathies and related disorders v1.22	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Literature KidGen_MetabolicRenal v38.1.0 Expert Review Green Victorian Clinical Genetics Services Phenotypes Glucocorticoid resistance, OMIM # 615962 Tags
Green Green List (high evidence)	NR3C2 Hypertension and Aldosterone disorders v1.17	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)	NR3C2 Renal Tubulopathies and related disorders v1.22	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Expert Review Green KidGen_AldoHypertension v38.1.0 Phenotypes Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735 MONDO:0008329 Tags
Green Green List (high evidence)	NR6A1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Oculovertebral syndrome, MIM# 621277 Tags
Green Green List (high evidence)	NUP107 Proteinuria v0.231	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 7, MIM# 618348 Tags founder
Green Green List (high evidence)	NUP133 Proteinuria v0.231	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome, type 18, MIM#618177 Tags
Green Green List (high evidence)	NUP160 Proteinuria v0.231	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome, type 19, MIM#618178 Tags
Green Green List (high evidence)	NUP85 Proteinuria v0.231	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Nephrotic syndrome, type 17, MIM#618176 Tags
Green Green List (high evidence)	NUP93 Proteinuria v0.231	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Nephrotic syndrome, type 12, MIM#616892 Tags
Green Green List (high evidence)	OCRL Renal Tubulopathies and related disorders v1.22	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 Review Green Expert list Expert Review Green 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)	OCRL Proteinuria v0.231	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes Dent disease 2, MIM#300555 Lowe syndrome, MIM#309000 Tags
Green Green List (high evidence)	OFD1 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Orofaciodigital syndrome I, MIM# 311200 Joubert syndrome 10, MIM# 300804 Tags
Green Green List (high evidence)	OSGEP Proteinuria v0.231	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 3, MIM# 617729 Tags
Green Green List (high evidence)	OSMR Amyloidosis v1.1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Other Phenotypes primary cutaneous amyloidosis MONDO:0015301 Tags
Green Green List (high evidence)	P3H2 Proteinuria v0.231	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Myopia, high, with cataract and vitreoretinal degeneration (MIM# 614292) Proteinuria, P3H2-related MONDO:0003634 Tags
Green Green List (high evidence)	PAN2 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Phenotypes Developmental delay with variable cardiac and renal congenital anomalies and dysmoprhic facies, MIM# 621384 Tags
Green Green List (high evidence)	PAX2 Proteinuria v0.231	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glomerulosclerosis, focal segmental, 7, MIM#616002 Tags
Green Green List (high evidence)	PAX2 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Papillorenal syndrome, MIM# 120330 Renal coloboma syndrome, MONDO:0007352 Tags
Green Green List (high evidence)	PBX1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay, OMIM #617641 Tags
Green Green List (high evidence)	PCBD1 Renal Tubulopathies and related disorders v1.22	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Magnesium v38.1.0 Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070 Tags
Green Green List (high evidence)	PDE3A Renal Tubulopathies and related disorders v1.22	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Expert Review Green KidGen_AldoHypertension v38.1.0 Phenotypes Hypertension and brachydactyly syndrome, MIM# 112410 Tags
Green Green List (high evidence)	PDE3A Hypertension and Aldosterone disorders v1.17	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)	PDIA6 Renal Ciliopathies and Nephronophthisis v1.46	3 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes multiple congenital anomalies, MONDO:0019042, PDIA6-related Tags
Green Green List (high evidence)	PDSS2 Proteinuria v0.231	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	PHEX Renal Tubulopathies and related disorders v1.22	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 Literature Expert Review Green Literature KidGen_CalcPhos v38.1.0 Phenotypes Hypophosphatemic rickets, X-linked dominant OMIM #307800 Tags
Green Green List (high evidence)	PKD1 Renal Macrocystic Disease v0.100	2 reviews 2 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Cystic v38.1.0 Phenotypes Polycystic kidney disease 1, MIM# 173900 Tags
Green Green List (high evidence)	PKD2 Renal Macrocystic Disease v0.100	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Cystic v38.1.0 Phenotypes Polycystic kidney disease 2, MIM#613095 AD Tags
Green Green List (high evidence)	PKHD1 Renal Macrocystic Disease v0.100	2 reviews 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Cystic v38.1.0 Phenotypes Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 Tags
Green Green List (high evidence)	PKHD1 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Polycystic kidney disease 4, with or without hepatic disease, MIM# 263200 Tags
Green Green List (high evidence)	PLCE1 Proteinuria v0.231	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 3, MIM# 610725 Tags
Green Green List (high evidence)	PMM2 Renal Macrocystic Disease v0.100	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hyperinsulinaemic Hypoglycaemia and Polycystic Kidney Disease (HIPKD), MONDO:0020642, PMM2-related Tags 5'UTR
Green Green List (high evidence)	PODXL Proteinuria v0.231	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome Tags
Green Green List (high evidence)	PRKCSH Renal Macrocystic Disease v0.100	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Cystic v38.1.0 Phenotypes Polycystic liver disease 1, MIM# 174050, with or without kidney cysts Tags
Green Green List (high evidence)	PSKH1 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Cholestasis, progressive familial intrahepatic, 13, MIM# 620962 Tags
Green Green List (high evidence)	PTH Renal Tubulopathies and related disorders v1.22	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypoparathyroidism, familial isolated 1, MIM# 146200 Tags
Green Green List (high evidence)	PTH1R Renal Tubulopathies and related disorders v1.22	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Expert Review Green 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)	PTPRO Proteinuria v0.231	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 6, MIM# 614196 Tags
Green Green List (high evidence)	REN Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal tubular dysgenesis, MIM# 267430 Tags
Green Green List (high evidence)	REN Renal Tubulointerstitial Disease v1.7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Tubulointerstitial v38.1.0 Phenotypes Autosomal dominant tubulointerstitial disease Tags
Green Green List (high evidence)	RET Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CAKUT MONDO:0019719, RET-related Tags
Green Green List (high evidence)	RET Renal Tubulopathies and related disorders v1.22	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Expert Review Green Expert list Expert Review Green Expert Review Phenotypes Multiple endocrine neoplasia IIB, MIM# 162300 Multiple endocrine neoplasia IIA, MIM# 171400 Tags
Green Green List (high evidence)	RMND1 Renal Tubulopathies and related disorders v1.22	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)	ROBO1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Neurooculorenal syndrome, MIM# 620305 Tags
Green Green List (high evidence)	ROBO2 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Vesicoureteral reflux 2 - MIM#610878 CAKUT Tags
Green Green List (high evidence)	ROR2 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	RPGRIP1L Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Joubert syndrome 7, MIM# 611560 Meckel syndrome 5, MIM# 611561 COACH syndrome 3, MIM# 619113 Nephronophthisis Tags
Green Green List (high evidence)	RRAGD Renal Tubulopathies and related disorders v1.22	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 Renal Tubulopathies and related disorders v1.22	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_MetabolicRenal v38.1.0 Expert Review Green KidGen_MetabolicRenal v38.1.0 Expert Review Green 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)	SALL1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	SALL4 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes SALL4- related disorders Tags
Green Green List (high evidence)	SARS2 Renal Tubulopathies and related disorders v1.22	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Magnesium v38.1.0 Expert Review Green KidGen_MetabolicRenal v38.1.0 Expert Review Green Victorian Clinical Genetics Services Phenotypes neurodevelopmental disorder MONDO#070009, SARS1-related Tags
Green Green List (high evidence)	SCARB2 Proteinuria v0.231	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Progressive Myoclonus Epilepsy, MONDO:0020074 Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900 Tags
Green Green List (high evidence)	SCLT1 Renal Ciliopathies and Nephronophthisis v1.46	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert list Phenotypes Senior-Loken syndrome Bardet-Biedl syndrome Tags
Green Green List (high evidence)	SCN4A Renal Tubulopathies and related disorders v1.22	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 Hypertension and Aldosterone disorders v1.17	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Phenotypes ?Liddle syndrome 3 618126 AD Bronchiectasis with or without elevated sweat chloride 2 613021 AD Pseudohypoaldosteronism, type I 264350 AR. Tags
Green Green List (high evidence)	SCNN1A Renal Tubulopathies and related disorders v1.22	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Expert Review Red Expert Review 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 Hypertension and Aldosterone disorders v1.17	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Phenotypes Liddle syndrome 1, MIM# 177200 Pseudohypoaldosteronism, type I, MIM# 264350 Tags
Green Green List (high evidence)	SCNN1B Renal Tubulopathies and related disorders v1.22	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 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 Hypertension and Aldosterone disorders v1.17	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Phenotypes Liddle syndrome 2, MIM# 618114 Pseudohypoaldosteronism, type I, MIM# 264350 Tags
Green Green List (high evidence)	SCNN1G Renal Tubulopathies and related disorders v1.22	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 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)	SDCCAG8 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome 16, MIM# 615993 MONDO:0014444 Senior-Loken syndrome 7, MIM# 613615 MONDO:0013326 Nephronophthisis Tags
Green Green List (high evidence)	SEC61A1 Renal Tubulointerstitial Disease v1.7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Tubulointerstitial v38.1.0 Phenotypes Hyperuricemic nephropathy, familial juvenile, 4, MIM# 617056 Tags
Green Green List (high evidence)	SEC63 Renal Macrocystic Disease v0.100	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Polycystic liver disease 2, MIM#617004 Tags
Green Green List (high evidence)	SGPL1 Proteinuria v0.231	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes RENI syndrome (MIM#617575) Tags
Green Green List (high evidence)	SHROOM4 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Congenital anomaly of the kidney and urinary tracy (CAKUT), SHROOM4-related, MONDO:0019719 Tags
Green Green List (high evidence)	SLC12A1 Renal Tubulopathies and related disorders v1.22	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Bartter syndrome, type 1, OMIM #601678 Tags
Green Green List (high evidence)	SLC12A3 Renal Tubulopathies and related disorders v1.22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Phenotypes Gitelman syndrome, MIM# 263800 Tags
Green Green List (high evidence)	SLC20A1 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related Tags
Green Green List (high evidence)	SLC22A12 Renal Tubulopathies and related disorders v1.22	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 Renal Tubulopathies and related disorders v1.22	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 Renal Tubulopathies and related disorders v1.22	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 Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypouricaemia, renal, 2, MIM# 612076 Tags
Green Green List (high evidence)	SLC34A1 Renal Tubulopathies and related disorders v1.22	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Expert Review Green 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 Renal Tubulopathies and related disorders v1.22	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Expert Review Green Victorian Clinical Genetics Services Phenotypes Hypophosphataemic rickets with hypercalciuria, (MIM#241530) Tags
Green Green List (high evidence)	SLC3A1 Renal Tubulopathies and related disorders v1.22	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 Renal Tubulopathies and related disorders v1.22	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Tubulopathies v38.1.0 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 Renal Tubulopathies and related disorders v1.22	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 Renal Tubulopathies and related disorders v1.22	1 review 1 green	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Renal glucosuria, MIM# 233100 Tags
Green Green List (high evidence)	SLC6A19 Renal Tubulopathies and related disorders v1.22	1 review 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Hyperglycinuria, MIM# 138500 Hartnup disorder, MIM# 234500 Iminoglycinuria, MIM# 242600 Tags
Green Green List (high evidence)	SLC7A7 Renal Tubulopathies and related disorders v1.22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_MetabolicRenal v38.1.0 Expert Review Green KidGen_MetabolicRenal v38.1.0 Phenotypes Lysinuric protein intolerance, MIM# 222700 Tags
Green Green List (high evidence)	SLC7A9 Renal Tubulopathies and related disorders v1.22	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)	SMARCAL1 Proteinuria v0.231	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	SON Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes ZTTK syndrome, MIM# 617140 Tags
Green Green List (high evidence)	STRA6 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Microphthalmia, isolated, with coloboma 8, MIM#601186 Tags
Green Green List (high evidence)	STRADA Renal Tubulopathies and related disorders v1.22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Literature Phenotypes Polyhydramnios, megalencephaly, and symptomatic epilepsy OMIM #611087 Tags
Green Green List (high evidence)	STX16 Renal Tubulopathies and related disorders v1.22	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)	Sources Expert Review Green Expert list Expert Review Green Expert list Phenotypes Pseudohypoparathyroidism, type IB, MIM#603233 Tags
Green Green List (high evidence)	TBC1D1 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes CAKUT Tags
Green Green List (high evidence)	TBC1D8B Proteinuria v0.231	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 Review Green Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Nephrotic syndrome, type 20, MIM# 301028 Tags
Green Green List (high evidence)	TBCE Renal Tubulopathies and related disorders v1.22	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Literature Phenotypes Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410 Tags
Green Green List (high evidence)	TBX18 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Congenital anomalies of kidney and urinary tract 2, MIM# 143400 Tags
Green Green List (high evidence)	TBX6 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Mayer-Rokitansky-Küster-Hauser syndrome, MONDO:0017771, TBX6-related Combined skeletal-kidney dysplasia syndrome Tags
Green Green List (high evidence)	TCTN2 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Joubert syndrome 24, MIM# 616654 MONDO:0014724 Meckel syndrome 8, MIM# 613885 MONDO:0013482 Tags
Green Green List (high evidence)	TCTN3 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Joubert syndrome 18, MIM# 614815 MONDO:0013896 Mohr-Majewski syndrome Meckel-Gruber syndrome Tags
Green Green List (high evidence)	TFAP2A Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Branchiooculofacial syndrome, MIM# 113620 Tags
Green Green List (high evidence)	TMEM138 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Joubert syndrome 16, MIM# 614465 MONDO:0013764 Tags
Green Green List (high evidence)	TMEM17 Renal Ciliopathies and Nephronophthisis v1.46	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Meckel syndrome MONDO:0018921, TMEM17-related Tags
Green Green List (high evidence)	TMEM216 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Joubert syndrome 2, MIM# 608091 Meckel syndrome 2, MIM# 603194 Tags
Green Green List (high evidence)	TMEM231 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Joubert syndrome 20, MIM# 614970 MONDO:0013994 Meckel syndrome 11, MIM# 615397 MONDO:0014164 Tags
Green Green List (high evidence)	TMEM237 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Joubert syndrome 14, MIM# 614424 Tags
Green Green List (high evidence)	TMEM260 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Structural heart defects and renal anomalies syndrome, MIM# 617478 Tags
Green Green List (high evidence)	TMEM67 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Nephronophthisis 11, MIM# 613550 Joubert syndrome 6, MIM# 610688 Meckel syndrome 3, MIM# 607361 Tags
Green Green List (high evidence)	TNS2 Proteinuria v0.231	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Nephrotic syndrome Tags
Green Green List (high evidence)	TOP2B Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes B-cell immunodeficiency, distal limb anomalies, and urogenital malformations, MIM# 609296 Tags
Green Green List (high evidence)	TP53RK Proteinuria v0.231	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 4, MIM# 617730 Tags
Green Green List (high evidence)	TPRKB Proteinuria v0.231	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Galloway-Mowat syndrome 5, OMIM #617731 Tags
Green Green List (high evidence)	TRAF3IP1 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Senior-Loken syndrome 9, MIM# 616629 MONDO:0014712 Tags
Green Green List (high evidence)	TRAP1 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Syndromic disease, MONDO:0002254, TRAP1-related Tags
Green Green List (high evidence)	TRIM8 Proteinuria v0.231	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Focal segmental glomerulosclerosis and neurodevelopmental syndrome, MIM# 619428 Intellectual disability Seizures nephrotic syndrome proteinuria Tags
Green Green List (high evidence)	TRPC6 Proteinuria v0.231	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glomerulosclerosis, focal segmental, 2, MIM# 603965 Tags
Green Green List (high evidence)	TRPM6 Renal Tubulopathies and related disorders v1.22	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Magnesium v38.1.0 Expert Review Green KidGen_Magnesium v38.1.0 Phenotypes Hypomagnesaemia 1, intestinal (MIM#602014) Tags
Green Green List (high evidence)	TRPM7 Renal Tubulopathies and related disorders v1.22	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Familial primary hypomagnesemia, MONDO:0018100, TRPM7-related Tags
Green Green List (high evidence)	TSC1 Renal Macrocystic Disease v0.100	1 review 1 green	Unknown	Sources Expert Review Green KidGen_Cystic v38.1.0 Tags
Green Green List (high evidence)	TSC2 Renal Macrocystic Disease v0.100	2 reviews 1 green	Unknown	Sources Expert Review Green Expert Review Green KidGen_Cystic v38.1.0 Victorian Clinical Genetics Services Australian Genomics Health Alliance Brain Malformations Flagship Tags
Green Green List (high evidence)	TSEN2 Atypical Haemolytic Uraemic Syndrome_MPGN v0.55	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Expert list Expert list Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes TRACK syndrome Tags
Green Green List (high evidence)	TTC21B Renal Ciliopathies and Nephronophthisis v1.46	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Nephronophthisis 12, MIM# 613820 Short-rib thoracic dysplasia 4 with or without polydactyly, MIM# 613819 Tags
Green Green List (high evidence)	TTC21B Proteinuria v0.231	3 reviews 1 green 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Glomerular disorder (MONDO:0019722), TTC21B-related Tags
Green Green List (high evidence)	TTC8 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Bardet-Biedl syndrome 8, MIM# 615985 Tags
Green Green List (high evidence)	TTR Amyloidosis v1.1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes hereditary ATTR amyloidosis MONDO:0017132 Tags
Green Green List (high evidence)	TULP3 Renal Ciliopathies and Nephronophthisis v1.46	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Hepatorenocardiac degenerative fibrosis, MIM# 619902 Tags
Green Green List (high evidence)	TXNDC15 Renal Ciliopathies and Nephronophthisis v1.46	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review KidGen_CilioNephronop v38.1.0 Phenotypes Meckel syndrome 14, MIM# 619879 Tags
Green Green List (high evidence)	UMOD Renal Tubulopathies and related disorders v1.22	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Expert Review Green Expert Review Phenotypes Hyperuricemic nephropathy, familial juvenile 1, MIM# 162000 Tags
Green Green List (high evidence)	UMOD Renal Tubulointerstitial Disease v1.7	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Tubulointerstitial v38.1.0 Phenotypes Autosomal Dominant Tubulointerstitial disease (ADTKD-UMOD) Glomerulocystic kidney disease with hyperuricemia and isosthenuria 609886 Medullary cystic kidney disease 2, MIM# 603860 Tags
Green Green List (high evidence)	UMOD Renal Macrocystic Disease v0.100	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_Cystic v38.1.0 Phenotypes Tubulointerstitial kidney disease, autosomal dominant, 1, MIM# 162000 Tags
Green Green List (high evidence)	VDR Renal Tubulopathies and related disorders v1.22	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CalcPhos v38.1.0 Expert Review Red Victorian Clinical Genetics Services Phenotypes Rickets, vitamin D-resistant, type IIA, MIM# 277440 Tags
Green Green List (high evidence)	VHL Renal Macrocystic Disease v0.100	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes von Hippel-Lindau syndrome, MIM# 193300 Tags
Green Green List (high evidence)	VIPAS39 Renal Tubulopathies and related disorders v1.22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Tubulopathies v38.1.0 Expert Review Green KidGen_Tubulopathies v38.1.0 Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404 Tags
Green Green List (high evidence)	VPS33B Renal Tubulopathies and related disorders v1.22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_Tubulopathies v38.1.0 Expert Review Green KidGen_Tubulopathies v38.1.0 Phenotypes Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085) Tags
Green Green List (high evidence)	WBP11 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Literature Phenotypes Vertebral, cardiac, tracheoesophageal, renal, and limb defects, MIM# 619227 malformation syndrome affecting the cardiac, skeletal, gastrointestinal and renal systems Tags
Green Green List (high evidence)	WDPCP Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome 15, MIM# 615992 OFD Congenital heart defects, hamartomas of tongue, and polysyndactyly, 217085 Tags
Green Green List (high evidence)	WDR19 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Nephronophthisis 13, MIM# 614377 Senior-Loken syndrome 8, MIM# 616307 Tags
Green Green List (high evidence)	WDR35 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 7 with or without polydactyly, MIM#614091 MONDO:0013569 Cranioectodermal dysplasia 2, MIM# 613610 Tags
Green Green List (high evidence)	WDR44 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 1 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Literature Phenotypes Ciliopathy, MONDO:0005308, WDR44-related Tags
Green Green List (high evidence)	WDR60 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503 Tags
Green Green List (high evidence)	WDR72 Renal Tubulopathies and related disorders v1.22	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Green Expert Review Phenotypes Amelogenesis imperfecta, type IIA3, MIM# 613211 Distal RTA Tags
Green Green List (high evidence)	WDR73 Proteinuria v0.231	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green Green List (high evidence)	WLS Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Zaki syndrome, MIM#619648 Tags
Green Green List (high evidence)	WNK1 Renal Tubulopathies and related disorders v1.22	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)	WNK1 Hypertension and Aldosterone disorders v1.17	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 Hypertension and Aldosterone disorders v1.17	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)	WNK4 Renal Tubulopathies and related disorders v1.22	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green KidGen_AldoHypertension v38.1.0 Expert Review Green KidGen_AldoHypertension v38.1.0 Phenotypes Pseudohypoaldosteronism, type IIB, MIM# 614491 Tags
Green Green List (high evidence)	WNT5A Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Robinow syndrome, autosomal dominant 1, MIM#180700 Tags
Green Green List (high evidence)	WT1 Proteinuria v0.231	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Denys-Drash syndrome, MIM# 194080 Frasier syndrome, MIM#136680 Wilms tumor, type 1, MIM#194070 Nephrotic syndrome, type 4, MIM#256370 Tags
Green Green List (high evidence)	XDH Renal Tubulopathies and related disorders v1.22	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Phenotypes Xanthinuria, type I (MIM#278300) Tags
Green Green List (high evidence)	XPNPEP3 Renal Ciliopathies and Nephronophthisis v1.46	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green KidGen_CilioNephronop v38.1.0 Phenotypes Nephronophthisis-like nephropathy 1, OMIM #613159 Tags
Green Green List (high evidence)	YRDC Proteinuria v0.231	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Galloway-Mowat syndrome Tags
Green Green List (high evidence)	ZIC3 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Green Expert list Phenotypes VACTERL association, X-linked, MIM#314390 Tags
Green Green List (high evidence)	ZMYM2 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Literature Phenotypes Neurodevelopmental-craniofacial syndrome with variable renal and cardiac abnormalities, MIM# 619522 Tags
Amber Amber List (moderate evidence)	ADAMTS13 Atypical Haemolytic Uraemic Syndrome_MPGN v0.55	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Thrombotic thrombocytopenic purpura, familial, OMIM #274150 Tags
Amber Amber List (moderate evidence)	ADAMTS9 Renal Ciliopathies and Nephronophthisis v1.46	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Nephropathy-related ciliopathy, MONDO:0022409, ADAMTS9-related Tags
Amber Amber List (moderate evidence)	ADCY10 Renal Tubulopathies and related disorders v1.22	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Expert Review Amber Expert Review Red Expert list Victorian Clinical Genetics Services Phenotypes Hypercalciuria, absorptive, susceptibility to, MIM#143870 Tags
Amber Amber List (moderate evidence)	ANLN Proteinuria v0.231	4 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Amber Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Focal segmental glomerulosclerosis 8, OMIM #616032 Tags
Amber Amber List (moderate evidence)	APOC2 Amyloidosis v1.1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes APOC2-related amyloidosis, MONDO:0019065 Tags
Amber Amber List (moderate evidence)	APOL1 Proteinuria v0.231	4 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes {Glomerulosclerosis, focal segmental, 4, susceptibility to}, MIM#612551 Tags
Amber Amber List (moderate evidence)	ARID3A Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Congenital anomaly of kidney and urinary tract, MONDO:0019719, ARID3A-related Tags
Amber Amber List (moderate evidence)	B9D2 Renal Ciliopathies and Nephronophthisis v1.46	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber KidGen_CilioNephronop v38.1.0 Phenotypes Meckel syndrome 10, MIM# 614175 Tags
Amber Amber List (moderate evidence)	BCORL1 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Expert Review Phenotypes Congenital anomaly of the kidney and urinary tract, MONDO:0019719, BCORL1-related Tags
Amber Amber List (moderate evidence)	CEP120 Renal Ciliopathies and Nephronophthisis v1.46	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber KidGen_CilioNephronop v38.1.0 Phenotypes Short-rib thoracic dysplasia 13 with or without polydactyly, MIM# 616300 Tags
Amber Amber List (moderate evidence)	CEP41 Renal Ciliopathies and Nephronophthisis v1.46	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber KidGen_CilioNephronop v38.1.0 Phenotypes Joubert syndrome 15, MIM# 614464 Tags
Amber Amber List (moderate evidence)	CFAP47 Renal Macrocystic Disease v0.100	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Amber Literature Phenotypes Cystic kidney disease MONDO:0002473 Tags disputed
Amber Amber List (moderate evidence)	CLCNKA Renal Tubulopathies and related disorders v1.22	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources KidGen_Tubulopathies v38.1.0 Expert Review Amber Expert Review Amber Victorian Clinical Genetics Services Phenotypes Bartter syndrome, type 4b, digenic OMIM #613090 Tags
Amber Amber List (moderate evidence)	COL4A3 Renal Macrocystic Disease v0.100	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Alport syndrome MONDO:0018965 Tags
Amber Amber List (moderate evidence)	COL4A4 Renal Macrocystic Disease v0.100	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes Alport syndrome MONDO:0018965 Tags
Amber Amber List (moderate evidence)	COL4A5 Renal Macrocystic Disease v0.100	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 Amber Literature Phenotypes Alport syndrome MONDO:0018965 Tags
Amber Amber List (moderate evidence)	COQ7 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Amber Expert list Phenotypes Coenzyme Q10 deficiency, primary, 8, MIM#616733 Tags
Amber Amber List (moderate evidence)	CYS1 Renal Ciliopathies and Nephronophthisis v1.46	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Polycystic kidney disease, MONDO:0020642 Tags
Amber Amber List (moderate evidence)	DACT1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber NHS GMS Expert list Phenotypes Townes-Brocks syndrome 2, MIM#617466 Tags
Amber Amber List (moderate evidence)	DDX59 Renal Ciliopathies and Nephronophthisis v1.46	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review KidGen_CilioNephronop v38.1.0 Phenotypes Orofaciodigital syndrome V (MIM#174300) Tags
Amber Amber List (moderate evidence)	DMRT2 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes skeletal dysplasia MONDO:0018230 DMRT2-related Tags
Amber Amber List (moderate evidence)	DSTYK Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital anomalies of kidney and urinary tract 1, MIM# 610805 Tags disputed
Amber Amber List (moderate evidence)	EHD1 Proteinuria v0.231	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Inherited renal tubular disease, MONDO:0015962, EHD1-related Tags
Amber Amber List (moderate evidence)	EMP2 Proteinuria v0.231	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes nephrotic syndrome, type 10 MONDO:0014373 Tags
Amber Amber List (moderate evidence)	FGF20 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Renal hypodysplasia/aplasia 2, MIM#615721 Tags
Amber Amber List (moderate evidence)	FOXC1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Congenital anomalies of the kidney and urinary tract (CAKUT) Tags
Amber Amber List (moderate evidence)	FXYD2 Renal Tubulopathies and related disorders v1.22	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber KidGen_Magnesium v38.1.0 Expert Review Amber Phenotypes Renal hypomagnesemia 2 MONDO:0007937 Tags
Amber Amber List (moderate evidence)	ICK Renal Ciliopathies and Nephronophthisis v1.46	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Endocrine-cerebroosteodysplasia, MIM# 612651 Cranioectodermal dysplasia 6, MIM# 621337 Tags
Amber Amber List (moderate evidence)	KIRREL1 Proteinuria v0.231	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Nephrotic syndrome, type 23, MIM# 619201 Tags
Amber Amber List (moderate evidence)	KL Renal Tubulopathies and related disorders v1.22	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 Expert Review Amber Phenotypes Hyperphosphatemia Tumoral calcinosis, hyperphosphatemic, familial, 3 MIM#617994 Tags
Amber Amber List (moderate evidence)	MEFV Proteinuria v0.231	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Expert Review Green Victorian Clinical Genetics Services Phenotypes Familial Mediterranean fever MIM#134610 Familial Mediterranean fever MIM#249100 Neutrophilic dermatosis, acute febrile MIM#608068 Tags
Amber Amber List (moderate evidence)	NDUFAF6 Renal Tubulopathies and related disorders v1.22	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert Review Amber Expert list Phenotypes Fanconi renotubular syndrome 5, MIM# 618913 Tags
Amber Amber List (moderate evidence)	NFXL1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Syndromic disease (MONDO:0002254), NFXL1-related Tags
Amber Amber List (moderate evidence)	OXGR1 Renal Tubulopathies and related disorders v1.22	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)	PRDM15 Proteinuria v0.231	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Steroid resistant nephrotic syndrome Tags
Amber Amber List (moderate evidence)	PTCH1 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes Exstrophy-epispadias complex MONDO:0017919, PTCH1-related Tags
Amber Amber List (moderate evidence)	RCAN1 Proteinuria v0.231	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes FSGS proteinuria Tags
Amber Amber List (moderate evidence)	SEC16B Renal Macrocystic Disease v0.100	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert Review Phenotypes Polycystic liver disease (with or without kidney cysts), MONDO:0000447, SEC16B-related Tags
Amber Amber List (moderate evidence)	SLC1A1 Renal Tubulopathies and related disorders v1.22	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Dicarboxylic aminoaciduria, MIM# 222730 Tags
Amber Amber List (moderate evidence)	SLC36A2 Renal Tubulopathies and related disorders v1.22	2 reviews 1 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Literature Phenotypes Iminoglycinuria, digenic MIM#242600 Hyperglycinuria MIM#138500 Disorders of amino acid transport Tags
Amber Amber List (moderate evidence)	SLIT2 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes CAKUT MONDO:0019719, SLIT2-related Tags
Amber Amber List (moderate evidence)	SOX11 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Expert list Phenotypes Congenital abnormalities of the kidneys and urinary tract Tags
Amber Amber List (moderate evidence)	SRGAP1 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes CAKUT, MONDO:0019719, SRGAP1-related Tags
Amber Amber List (moderate evidence)	TFCP2L1 Renal Tubulopathies and related disorders v1.22	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes CAKUT, MONDO:0019719, TFGP2L1-related Tags
Amber Amber List (moderate evidence)	TMEM107 Renal Ciliopathies and Nephronophthisis v1.46	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review KidGen_CilioNephronop v38.1.0 Phenotypes Meckel syndrome 13 (MIM#617562) Orofaciodigital syndrome XVI (MIM#617563) Tags
Amber Amber List (moderate evidence)	TSHZ3 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes congenital anomaly of kidney and urinary tract MONDO:0019719 Tags
Amber Amber List (moderate evidence)	UGGT1 Renal Macrocystic Disease v0.100	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Congenital disorder of glycosylation, type IICC, MIM# 621381 Tags
Amber Amber List (moderate evidence)	WNT9B Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Amber Literature Victorian Clinical Genetics Services Phenotypes Renal agenesis/hypoplasia/dysplasia, no OMIM # Tags
Amber Amber List (moderate evidence)	ZNF423 Renal Ciliopathies and Nephronophthisis v1.46	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review KidGen_CilioNephronop v38.1.0 Phenotypes Joubert syndrome 19, OMIM# 614844 Tags
Red Red List (low evidence)	ARHGAP24 Proteinuria v0.231	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes FSGS, MONDO:0005363, ARHGAP24-related Tags
Red Red List (low evidence)	ARMC5 Hypertension and Aldosterone disorders v1.17	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Primary aldosteronism, MONDO:0001422 Tags
Red Red List (low evidence)	ATP6V1C2 Renal Tubulopathies and related disorders v1.22	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Expert Review Red Literature Phenotypes Distal renal tubular acidosis Tags
Red Red List (low evidence)	ATXN10 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Phenotypes Nephronophthisis Tags
Red Red List (low evidence)	BICC1 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes {Renal dysplasia, cystic, susceptibility to} OMIM #601331 Tags
Red Red List (low evidence)	BMP7 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Congenital abnormalities of the kidneys and urinary tract Tags
Red Red List (low evidence)	C2CD3 Renal Ciliopathies and Nephronophthisis v1.46	3 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Red KidGen_CilioNephronop v38.1.0 Phenotypes Orofaciodigital syndrome XIV, MIM# 615948 Tags
Red Red List (low evidence)	C5orf42 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Phenotypes Joubert syndrome 17, MIM#614615 Orofaciodigital syndrome VI, MIM# 277170 Tags
Red Red List (low evidence)	CBWD1 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes CAKUT Tags
Red Red List (low evidence)	CCDC28B Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 red	Other	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Phenotypes {Bardet-Biedl syndrome 1, modifier of}, MIM#209900 Tags
Red Red List (low evidence)	CD151 Haematuria_Alport v1.2	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Nephropathy with pretibial epidermolysis bullosa and deafness, MIM#609057 Tags
Red Red List (low evidence)	CDC5L Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Congenital abnormalities of the kidneys and urinary tract Tags
Red Red List (low evidence)	CEP104 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Phenotypes Joubert syndrome 25, MIM# 616781 MONDO:0014770 Tags
Red Red List (low evidence)	CFH Haematuria_Alport v1.2	2 reviews 1 green 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Complement factor H deficiency, MIM#609814 Tags
Red Red List (low evidence)	CFHR5 Haematuria_Alport v1.2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Nephropathy due to CFHR5 deficiency, MIM#614809 Tags SV/CNV
Red Red List (low evidence)	CHD1L Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes CAKUT Tags disputed
Red Red List (low evidence)	CHRM5 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Congenital anomaly of kidney and urinary tract, (MONDO:0019719), CHRM5-related Tags
Red Red List (low evidence)	CLCN5 Haematuria_Alport v1.2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	COL4A2 Haematuria_Alport v1.2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Brain small vessel disease 2, MIM#614483 Tags
Red Red List (low evidence)	COQ8A Proteinuria v0.231	2 reviews 1 green 1 red	Unknown	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes Coenzyme Q10 deficiency, primary, 4, MIM#612016 Tags
Red Red List (low evidence)	CUBN Haematuria_Alport v1.2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	EGF Renal Tubulopathies and related disorders v1.22	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red KidGen_Magnesium v38.1.0 KidGen_Magnesium v38.1.0 Phenotypes Hypomagnesemia 4, renal, MIM#611718 Tags
Red Red List (low evidence)	EGFR Renal Tubulopathies and related disorders v1.22	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)	EVC Renal Ciliopathies and Nephronophthisis v1.46	4 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Expert Review Red KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Ellis-van Creveld syndrome, MIM#225500 Tags
Red Red List (low evidence)	EVC2 Renal Ciliopathies and Nephronophthisis v1.46	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Phenotypes Ellis van Creveld syndrome Tags
Red Red List (low evidence)	EZH2 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	3 reviews 2 green 1 red	Unknown	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	FGF10 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes LADD syndrome OMIM #149730 Tags
Red Red List (low evidence)	FGF8 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	3 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 6 with or without anosmia OMIM #612702 Tags
Red Red List (low evidence)	FGFR1 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	2 reviews 1 green	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	FGFR2 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 1 green 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	FGFR3 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Expert list Phenotypes LADD syndrome, MIM#149730 Tags
Red Red List (low evidence)	FN1 Haematuria_Alport v1.2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	FOXC1 Renal Ciliopathies and Nephronophthisis v1.46	2 reviews 2 red	Unknown	Sources Expert Review Red Expert Review Red KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Axenfeld-Rieger syndrome, type 3, MIM#602482 Tags
Red Red List (low evidence)	FOXC2 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus OMIM #153400 Tags
Red Red List (low evidence)	GALNT14 Haematuria_Alport v1.2	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes IgA Nephropathy, susceptibility to, MONDO:0100555, GALNT14-related Tags
Red Red List (low evidence)	HOXA4 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	2 reviews 2 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	HOXB6 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	3 reviews 2 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	HYLS1 Renal Ciliopathies and Nephronophthisis v1.46	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list KidGen_CilioNephronop v38.1.0 Phenotypes Hydrolethalus syndrome (MIM#236680) Joubert syndrome Tags founder
Red Red List (low evidence)	IFT57 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 red	Unknown	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Phenotypes Orofaciodigital syndrome XVIII, MIM#617927 Tags
Red Red List (low evidence)	IFT81 Renal Ciliopathies and Nephronophthisis v1.46	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Phenotypes Short-rib thoracic dysplasia 19 with or without polydactyly OMIM #617895 Tags
Red Red List (low evidence)	IL1RAP Proteinuria v0.231	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Steroid-sensitive nephrotic syndrome Tags
Red Red List (low evidence)	ITGB4 Proteinuria v0.231	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Epidermolysis bullosa, junctional, with pyloric atresia, MIM#226730 Tags
Red Red List (low evidence)	KANK1 Proteinuria v0.231	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Nephrotic syndrome Tags
Red Red List (low evidence)	KANK4 Proteinuria v0.231	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Tags
Red Red List (low evidence)	KAT2B Proteinuria v0.231	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes steroid-resistant nephrotic syndrome MONDO:0044765, KAT2B-related Tags
Red Red List (low evidence)	KIAA0556 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Phenotypes Joubert syndrome 26, MIM# 616784 Tags
Red Red List (low evidence)	KIAA0586 Renal Ciliopathies and Nephronophthisis v1.46	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 14 with polydactyly, MIM# 616546 Joubert syndrome 23, MIM# 616490 Tags
Red Red List (low evidence)	KIAA0753 Renal Ciliopathies and Nephronophthisis v1.46	2 reviews 1 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Expert list KidGen_CilioNephronop v38.1.0 Phenotypes Short-rib skeletal dysplasia Orofaciodigital syndrome XV, MIM# 617127 Jeune ATD Tags
Red Red List (low evidence)	KIF14 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 red	Unknown	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Tags
Red Red List (low evidence)	KIF7 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Acrocallosal syndrome, MIM# 200990 Joubert syndrome 12, MIM# 200990 Tags
Red Red List (low evidence)	LMNA Proteinuria v0.231	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Familial partial lipodystrophy FSGS Tags
Red Red List (low evidence)	LMX1B Haematuria_Alport v1.2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	LRP5 Renal Macrocystic Disease v0.100	2 reviews 2 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Phenotypes Polycystic liver disease 4 with or without kidney cysts, MIM# 617875 Tags
Red Red List (low evidence)	NPHS2 Haematuria_Alport v1.2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	NUP205 Proteinuria v0.231	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Nephrotic syndrome, type 13, MIM#616893 Tags
Red Red List (low evidence)	NUP37 Proteinuria v0.231	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Nephrotic syndrome Tags
Red Red List (low evidence)	OCRL Haematuria_Alport v1.2	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	PDE6D Renal Ciliopathies and Nephronophthisis v1.46	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Red KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Joubert syndrome 22, OMIM #615665 Tags
Red Red List (low evidence)	POC1B Renal Ciliopathies and Nephronophthisis v1.46	3 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Expert Review Red KidGen_CilioNephronop v38.1.0 Phenotypes Cone-rod dystrophy 20, MIM#615973 Tags
Red Red List (low evidence)	SEMA3A Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 1 green 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	SIX1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Branchiootic syndrome 3, MIM#608389 Deafness, autosomal dominant 23, MIM# 605192 Tags
Red Red List (low evidence)	SIX2 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes CAKUT, MONDO:0019719, SIX2-related Tags
Red Red List (low evidence)	SIX5 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Branchiootorenal syndrome 2, MIM# 610896 Tags disputed
Red Red List (low evidence)	SLC25A25 Renal Tubulopathies and related disorders v1.22	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Nephrolithiasis MONDO:0008171,SLC25A25 related Tags
Red Red List (low evidence)	SLC26A1 Renal Tubulopathies and related disorders v1.22	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 disputed
Red Red List (low evidence)	SLC41A1 Renal Ciliopathies and Nephronophthisis v1.46	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Phenotypes Nephronophthisis-like nephropathy 2, MIM# 619468 Tags
Red Red List (low evidence)	SLC6A20 Renal Tubulopathies and related disorders v1.22	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Expert list Expert list Phenotypes Hyperglycinuria, MIM# 138500 Tags
Red Red List (low evidence)	SLC6A6 Renal Tubulopathies and related disorders v1.22	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 Renal Tubulopathies and related disorders v1.22	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)	SOX17 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Vesicoureteral reflux 3 OMIM #613674 Tags
Red Red List (low evidence)	SPRY2 Proteinuria v0.231	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes {?IgA nephropathy, susceptibility to, 3} MIM#616818 Tags
Red Red List (low evidence)	TBC1D31 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes congenital anomaly of kidney and urinary tract MONDO:0019719, TBC1D31-related Tags
Red Red List (low evidence)	TCTN1 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Joubert syndrome 13, MIM# 614173 Tags
Red Red List (low evidence)	THBD Atypical Haemolytic Uraemic Syndrome_MPGN v0.55	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes {Hemolytic uremic syndrome, atypical, susceptibility to, 6} OMIM #612926 Tags refuted
Red Red List (low evidence)	TNXB Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Vesicoureteral reflux 8, MIM# 615963 Tags
Red Red List (low evidence)	TRIM32 Renal Ciliopathies and Nephronophthisis v1.46	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red KidGen_CilioNephronop v38.1.0 Phenotypes Bardet-Biedl syndrome 11, MIM# 615988 Tags
Red Red List (low evidence)	TRPV5 Renal Tubulopathies and related disorders v1.22	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes TRPV5-related hypercalciuria (MONDO:0009550) Tags
Red Red List (low evidence)	UMOD Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	3 reviews 2 green 1 red	Unknown	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	UPK3A Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Congenital anomaly of kidney and urinary tract, MONDO:0019719 Tags disputed
Red Red List (low evidence)	USP33 Hypertension and Aldosterone disorders v1.17	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Literature Phenotypes Renal hypertension MONDO:0001105 Tags
Red Red List (low evidence)	VTN Atypical Haemolytic Uraemic Syndrome_MPGN v0.55	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Atypical haemolytic uraemic syndrome Tags
Red Red List (low evidence)	WDR34 Renal Ciliopathies and Nephronophthisis v1.46	2 reviews 2 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Red KidGen_CilioNephronop v38.1.0 Victorian Clinical Genetics Services Phenotypes Short-rib thoracic dysplasia 11 with or without polydactyly, OMIM #615633 Tags
Red Red List (low evidence)	WNT11 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.160	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Laterality defects complex congenital heart defects renal defects Tags
Red Red List (low evidence)	WNT4 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.146	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Red Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes SERKAL syndrome OMIM #611812 Tags
Red Red List (low evidence)	XPO5 Proteinuria v0.231	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Expert list Phenotypes Nephrotic syndrome Tags

Kidneyome_SuperPanel (Version 9.93)

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