Congenital anomalies of the kidney and urinary tract (CAKUT) (Version 0.207)

Description

This panel contains genes associated with nonsyndromic and syndromic congenital anomalies of the kidney and urinary tract (CAKUT).

Panel Activity

29 reviewers

Zornitza Stark (Victorian Clinical Genetics Services)
Chirag Patel (Genetic Health Queensland)
Bryony Thompson (Royal Melbourne Hospital)
Sue White (Victorian Clinical Genetics Services)
Alison Yeung (Victorian Clinical Genetics Services)
Belinda Chong (Victorian Clinical Genetics Services)
Andrew Fennell (Monash Genetics)
Natalie Tan (Victorian Clinical Genetics Services)
Dean Phelan (Victorian Clinical Genetics Services)
Chern Lim (Victorian Clinical Genetics Services)
Melanie Marty (Victorian Clinical Genetics Services)
Teresa Zhao (Victorian Clinical Genetics Services)
Ain Roesley (Victorian Clinical Genetics Services)
Elena Savva (Victorian Clinical Genetics Services)
Crystle Lee (Victorian Clinical Genetics Services)
Naomi Baker (Victorian Clinical Genetics Services)
Paul De Fazio (Victorian Clinical Genetics Services)
Daniel Flanagan (Victorian Clinical Genetics Services)
Konstantinos Varvagiannis (Other)
Seb Lunke (Victorian Clinical Genetics Services)
Eleanor Williams (Genomics England)
Arina Puzriakova (Genomics England)
Krithika Murali (Pathology Queensland)
Samantha Ayres (Victorian Clinical Genetics Services)
Lucy Spencer (Victorian Clinical Genetics Services)
Renee Santoreneos (Royal Adelaide Hospital)
Abhijit Kulkarni (Healius Pathology)
Rylee Peters (Victorian Clinical Genetics Services)
Ava Stevenson (Victorian Clinical Genetics Services)

127 Entities

127 reviewed, 85 green

List	Entity	Reviews	Mode of inheritance	Details
Filter Entities 127 Entitiess
Green Green List (high evidence)	ACE	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal tubular dysgenesis, MIM# 267430 Tags
Green Green List (high evidence)	ACTG2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Visceral myopathy, MIM# 155310 Tags
Green Green List (high evidence)	AFF3	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	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal tubular dysgenesis, MIM# 267430 Tags
Green Green List (high evidence)	AGTR1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal tubular dysgenesis, MIM# 267430 Tags
Green Green List (high evidence)	ANOS1	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	BMP4	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CAKUT Tags
Green Green List (high evidence)	BNC2	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Literature Phenotypes Lower urinary tract obstruction, congenital OMIM #618612 Tags
Green Green List (high evidence)	CDX2	2 reviews 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green 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	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	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Stromme syndrome, MIM#243605 Tags
Green Green List (high evidence)	CEP55	2 reviews 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Multinucleated neurons, anhydramnios, renal dysplasia, cerebellar hypoplasia, and hydranencephaly, MIM#236500 Tags
Green Green List (high evidence)	CHD7	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	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)	CTU2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Microcephaly, facial dysmorphism, renal agenesis, and ambiguous genitalia syndrome Tags
Green Green List (high evidence)	DHCR7	5 reviews 4 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Victorian Clinical Genetics Services Phenotypes Smith-Lemli-Opitz syndrome OMIM #270400 Tags
Green Green List (high evidence)	DYRK1A	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)	EXOC3L2	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	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	FAM58A	2 reviews 2 green	Other	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes STAR syndrome, MIM# 300707 Tags
Green Green List (high evidence)	FOXP1	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Mental retardation with language impairment and with or without autistic features, MIM# 613670 Tags
Green Green List (high evidence)	FRAS1	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	FREM1	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	FREM2	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	GATA3	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)	GDF6	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	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)	GLI3	3 reviews 3 green	Unknown	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	GPC3	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	GREB1L	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal hypodysplasia/aplasia 3, OMIM# 617805 Tags
Green Green List (high evidence)	GRIP1	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)	HAAO	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 1, MIM#617660 Tags
Green Green List (high evidence)	HNF1B	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal cysts and diabetes syndrome, MIM# 137920 Tags
Green Green List (high evidence)	HOXA13	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	HOXA13_HFGS_GCN3 STR	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Hand-foot-uterus syndrome MIM#140000 Tags paediatric-onset
Green Green List (high evidence)	HPSE2	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	3 reviews 3 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Literature NHS GMS Phenotypes Neurofacioskeletal syndrome with or without renal agenesis, MIM#619194 Tags
Green Green List (high evidence)	HSPA9	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)	Chromosome 17q12 duplication syndrome ISCA-37432-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Chromosome 17q12 duplication syndrome 614526 intellectual disability seizures congenital anomalies Tags
Green Green List (high evidence)	Chromosome 17q12 duplication syndrome ISCA-37432-Gain Region	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert list Expert Review Green Phenotypes Chromosome 17q12 duplication syndrome 614526 intellectual disability seizures congenital anomalies Tags
Green Green List (high evidence)	ITGA8	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)	JAG1	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Alagille syndrome, MIM#118450 Tags
Green Green List (high evidence)	KDM2B	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with congenital cardiac defects and variable renal and ocular abnormalities, MIM# 621474 Tags
Green Green List (high evidence)	KDM6A	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	KIF14	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources 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)	KMT2D	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	KYNU	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green NHS GMS Phenotypes Vertebral, cardiac, renal, and limb defects syndrome 2, MIM#617661 Tags
Green Green List (high evidence)	LIFR	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)	LRIG2	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)	LRP4	2 reviews 2 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	MYOCD	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	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)	NFIA	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes Brain malformations with or without urinary tract defects - MIM#613735 Tags
Green Green List (high evidence)	NIPBL	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	NOTCH2	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)	NPHP3	1 review 1 green	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)	NPNT	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)	NR6A1	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)	PAN2	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Developmental delay with variable cardiac and renal congenital anomalies and dysmoprhic facies, MIM# 621384 Tags
Green Green List (high evidence)	PAX2	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	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green 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)	REN	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Victorian Clinical Genetics Services Phenotypes Renal tubular dysgenesis, MIM# 267430 Tags
Green Green List (high evidence)	RET	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)	ROBO1	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Neurooculorenal syndrome, MIM# 620305 Tags
Green Green List (high evidence)	ROBO2	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Vesicoureteral reflux 2 - MIM#610878 CAKUT Tags
Green Green List (high evidence)	ROR2	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SALL1	1 review 1 green	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Tags
Green Green List (high evidence)	SALL4	3 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes SALL4- related disorders Tags
Green Green List (high evidence)	SHROOM4	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)	SLC20A1	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)	SON	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Expert Review Green Phenotypes ZTTK syndrome, MIM# 617140 Tags
Green Green List (high evidence)	STRA6	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Green Phenotypes Microphthalmia, isolated, with coloboma 8, MIM#601186 Tags
Green Green List (high evidence)	TBC1D1	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes CAKUT Tags
Green Green List (high evidence)	TBX18	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	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)	TFAP2A	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)	TMEM260	1 review 1 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Expert Review Green Phenotypes Structural heart defects and renal anomalies syndrome, MIM# 617478 Tags
Green Green List (high evidence)	TOP2B	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)	TRAP1	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)	WBP11	2 reviews 2 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green 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)	WDR44	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)	WLS	2 reviews 2 green	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes Zaki syndrome, MIM#619648 Tags
Green Green List (high evidence)	WNT5A	1 review 1 green	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Robinow syndrome, autosomal dominant 1, MIM#180700 Tags
Green Green List (high evidence)	ZIC3	2 reviews 2 green	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert list Expert Review Green Phenotypes VACTERL association, X-linked, MIM#314390 Tags
Green Green List (high evidence)	ZMYM2	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)	ARID3A	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)	BCORL1	1 review	X-LINKED: hemizygous mutation in males, biallelic mutations in females	Sources Expert Review Expert Review Amber Phenotypes Congenital anomaly of the kidney and urinary tract, MONDO:0019719, BCORL1-related Tags
Amber Amber List (moderate evidence)	BICC1	2 reviews 1 red	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Multicystic dysplastic kidney, MONDO:0015988 polycystic kidney disease, MONDO:0020642 Tags
Amber Amber List (moderate evidence)	COQ7	3 reviews 2 green 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Expert Review Green Phenotypes Coenzyme Q10 deficiency, primary, 8, MIM#616733 Tags
Amber Amber List (moderate evidence)	DACT1	3 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber NHS GMS Phenotypes Townes-Brocks syndrome 2, MIM#617466 Tags
Amber Amber List (moderate evidence)	DMRT2	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Spondylocostal dysostosis 7, autosomal recessive, MIM# 621523 Tags
Amber Amber List (moderate evidence)	DSTYK	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)	FGF20	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert list Expert Review Amber Phenotypes Renal hypodysplasia/aplasia 2, MIM#615721 Tags
Amber Amber List (moderate evidence)	FOXC1	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)	NFXL1	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Phenotypes Syndromic disease (MONDO:0002254), NFXL1-related Tags
Amber Amber List (moderate evidence)	NRIP1	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes congenital anomalies of kidney and urinary tract 3 MONDO:0032646 Tags
Amber Amber List (moderate evidence)	PTCH1	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)	SLIT2	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	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Amber Phenotypes Congenital abnormalities of the kidneys and urinary tract Tags
Amber Amber List (moderate evidence)	SRGAP1	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)	TSHZ3	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)	WNT4	2 reviews 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes SERKAL syndrome OMIM #611812 Tags
Amber Amber List (moderate evidence)	WNT9B	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Literature Victorian Clinical Genetics Services Phenotypes Renal agenesis/hypoplasia/dysplasia, no OMIM # Tags
Red Red List (low evidence)	BMP7	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Congenital abnormalities of the kidneys and urinary tract Tags
Red Red List (low evidence)	CBWD1	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes CAKUT Tags
Red Red List (low evidence)	CDC5L	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Red Phenotypes Congenital abnormalities of the kidneys and urinary tract Tags
Red Red List (low evidence)	CHD1L	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	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)	EZH2	3 reviews 2 green 1 red	Unknown	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	FGF10	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	2 reviews 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes Hypogonadotropic hypogonadism 6 with or without anosmia OMIM #612702 Tags
Red Red List (low evidence)	FGFR1	1 review	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	FGFR2	2 reviews 1 green 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	FGFR3	3 reviews 2 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Expert Review Red Phenotypes LADD syndrome, MIM#149730 Tags
Red Red List (low evidence)	FOXC2	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes Lymphedema-distichiasis syndrome with renal disease and diabetes mellitus OMIM #153400 Tags
Red Red List (low evidence)	HOXA4	2 reviews 2 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	HOXB6	3 reviews 2 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	SEMA3A	2 reviews 1 green 1 red	Unknown	Sources Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	SIX1	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	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	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)	SOX17	2 reviews 1 green 1 red	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Phenotypes Vesicoureteral reflux 3 OMIM #613674 Tags
Red Red List (low evidence)	TBC1D31	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)	TNXB	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)	UMOD	1 review 1 red	Unknown	Sources Expert Review Green Expert Review Red Victorian Clinical Genetics Services Tags
Red Red List (low evidence)	UPK3A	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)	WNT11	1 review 1 red	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red Literature Phenotypes Laterality defects complex congenital heart defects renal defects Tags

Congenital anomalies of the kidney and urinary tract (CAKUT) (Version 0.207)

29 reviewers

127 Entities

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