Congenital abnormalities of the kidneys and urinary tract (CAKUT)

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 123 Entitiess
Green List (high evidence)	ACE Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	ACE Renal Tubular Dysgenesis v1.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal tubular dysgenesis, MIM# 267430 Tags
Green List (high evidence)	ACTG2 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Visceral myopathy, MIM# 155310 Tags
Green List (high evidence)	AFF3 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes KINSSHIP syndrome, MIM# 619297 Tags
Green List (high evidence)	AGT Renal Tubular Dysgenesis v1.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal tubular dysgenesis, MIM# 267430 Tags
Green List (high evidence)	AGT Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	AGTR1 Renal Tubular Dysgenesis v1.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal tubular dysgenesis, MIM# 267430 Tags
Green List (high evidence)	AGTR1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	ANOS1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	BMP4 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	BNC2 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	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 List (high evidence)	CDX2 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	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 List (high evidence)	CELSR3 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder (MONDO#0700092), CELSR3-related Tags
Green List (high evidence)	CENPF Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Stromme syndrome, MIM#243605 Tags
Green List (high evidence)	CEP55 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	CHD7 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	CHRNA3 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	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 List (high evidence)	CTU2 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	DHCR7 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	DYRK1A Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	EXOC3L2 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Brain malformation renal syndrome, MIM# 620943 Tags
Green List (high evidence)	EYA1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Victorian Clinical Genetics Services Tags
Green List (high evidence)	FAM58A Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	2 reviews 2 green	Other	Sources Expert Review Green Expert Review Green Victorian Clinical Genetics Services Phenotypes STAR syndrome, MIM# 300707 Tags
Green List (high evidence)	FOXP1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	FRAS1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	FREM1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	FREM2 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	GATA3 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	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 List (high evidence)	GDF6 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Syndromic CAKUT Tags
Green List (high evidence)	GFRA1 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Renal hypodysplasia/aplasia 4, MIM# 619887 Tags
Green List (high evidence)	GLI3 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	GPC3 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	GREB1L Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	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 List (high evidence)	GRIP1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	HAAO Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	HNF1B Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	HOXA13 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	HPSE2 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Urofacial syndrome 1 MIM#236730 Tags
Green List (high evidence)	HS2ST1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	HSPA9 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	ITGA8 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	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 List (high evidence)	JAG1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	2 reviews 1 green	Unknown	Sources Expert Review Green Literature Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	KDM6A Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	KIF14 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	KMT2D Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	KYNU Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	LIFR Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	3 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 List (high evidence)	LRIG2 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	LRP4 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	2 reviews 2 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	MYOCD Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	2 reviews 2 green	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Megabladder congenital heart disease cardiomyopathy Tags
Green List (high evidence)	NADSYN1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	NFIA Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	NIPBL Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	NOTCH2 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	NPHP3 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	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 List (high evidence)	NPNT Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Renal agenesis, MONDO:0018470, NPNT-related Tags
Green List (high evidence)	NR6A1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Craniofacial microsomia MONDO:0015397 Tags
Green List (high evidence)	PAN2 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert Review Green Phenotypes Syndromic disease MONDO:0002254 Tags
Green List (high evidence)	PAX2 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	1 review 1 green	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	PBX1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	REN Renal Tubular Dysgenesis v1.1	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal tubular dysgenesis, MIM# 267430 Tags
Green List (high evidence)	REN Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	RET Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	ROBO1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	ROBO2 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	ROR2 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	SALL1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Tags
Green List (high evidence)	SALL4 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	SHROOM4 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	SLC20A1 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	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 List (high evidence)	SON Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes ZTTK syndrome, MIM# 617140 Tags
Green List (high evidence)	STRA6 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Microphthalmia, isolated, with coloboma 8, MIM#601186 Tags
Green List (high evidence)	TBC1D1 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	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 List (high evidence)	TBX18 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	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 List (high evidence)	TBX6 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	TFAP2A Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	TMEM260 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	TOP2B Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	TRAP1 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CAKUT VACTERL Tags
Green List (high evidence)	WBP11 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	WDR44 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	WLS Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Zaki syndrome, MIM#619648 Tags
Green List (high evidence)	WNT5A Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	ZIC3 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (high evidence)	ZMYM2 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (moderate evidence)	BCORL1 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	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 List (moderate evidence)	COQ7 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (moderate evidence)	DACT1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (moderate evidence)	FGF20 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Renal hypodysplasia/aplasia 2, MIM#615721 Tags
Amber List (moderate evidence)	FOXC1 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Amber Literature Victorian Clinical Genetics Services Phenotypes Congenital anomalies of the kidney and urinary tract (CAKUT) Tags
Amber List (moderate evidence)	FOXC1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (moderate evidence)	PTCH1 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Other Phenotypes Bladder exstrophy and epispadias complex (BEEC) Tags
Amber List (moderate evidence)	SIX5 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Branchiootorenal syndrome 2, MIM# 610896 Tags disputed
Amber List (moderate evidence)	SLIT2 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes CAKUT Tags
Amber List (moderate evidence)	SOX11 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	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 List (moderate evidence)	SRGAP1 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes CAKUT Tags
Amber List (moderate evidence)	TSHZ3 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (moderate evidence)	WNT9B Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	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
Red List (low evidence)	BICC1 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	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 List (low evidence)	BMP7 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	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 List (low evidence)	CBWD1 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes CAKUT Tags
Red List (low evidence)	CDC5L Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	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 List (low evidence)	CHD1L Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	3 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes CAKUT Tags disputed
Red List (low evidence)	CHRM5 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (low evidence)	DSTYK Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes Congenital anomalies of kidney and urinary tract 1, MIM# 610805 Tags disputed
Red List (low evidence)	EZH2 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	3 reviews 2 green 1 red	Unknown	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Victorian Clinical Genetics Services Tags
Red List (low evidence)	FGF10 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (low evidence)	FGF8 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	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 List (low evidence)	FGFR1 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	2 reviews 1 green	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	FGFR2 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	2 reviews 1 green 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	FGFR3 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (low evidence)	FOXC2 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (low evidence)	HOXA4 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	2 reviews 2 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	HOXB6 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	3 reviews 2 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	SEMA3A Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	2 reviews 1 green 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	SIX1 Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic v0.145	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 List (low evidence)	SIX2 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	1 review 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Victorian Clinical Genetics Services Phenotypes CAKUT Tags
Red List (low evidence)	SOX17 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	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 List (low evidence)	TBC1D31 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	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 List (low evidence)	TNXB Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	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 List (low evidence)	UMOD Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	3 reviews 2 green 1 red	Unknown	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Victorian Clinical Genetics Services Tags
Red List (low evidence)	UPK3A Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	1 review 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red List (low evidence)	WNT4 Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic v0.119	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

Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel (Version 1.95)

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