PanelApp
  1. Panels
  2. Congenital abnormalities of the kidneys and urinary tract (CAKUT)_SuperPanel
Description
This is a superpanel made up of the syndromic and non-syndromic CAKUT gene panels, as well as the renal tubular dysgenesis panel.

This is a consensus panel for the KidGen Collaborative and VCGS.

16/01/2020: This panel has been compared with the Genomics England PanelApp CAKUT panel. All discrepant gene-disease assessments have been reviewed and resolved by Chirag Patel and Zornitza Stark, with reciprocal reviews provided to Genomics England.

127 Entities

127 reviewed, 85 green

List Entity Reviews Mode of inheritance Details
127 Entitiess
Green Green List (high evidence)
ACE
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
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)
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 Review Green
  • 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 Review Green
  • 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
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
BMP4
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
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • Expert Review Green
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • 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
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • 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
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 Review Green
  • Expert list
Phenotypes
  • Stromme syndrome, MIM#243605
Tags
Green Green List (high evidence)
CEP55
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)
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
  • Literature
  • Expert Review Green
  • 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 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)
DHCR7
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)
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
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FAM58A
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)
FOXP1
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
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
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
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
GATA3
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • 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
  • Literature
  • Expert Review Green
  • 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 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)
GPC3
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)
GREB1L
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
  • 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)
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
  • 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
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • 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)
HOXA13
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)
HOXA13_HFGS_GCN3
STR
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • Expert Review Green
  • Expert list
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
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • 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 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)
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
  • Expert list
  • Expert list
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
  • Expert list
  • Expert list
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
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Renal hypodysplasia/aplasia 1, MIM# 191830
Tags
Green Green List (high evidence)
JAG1
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)
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
  • Victorian Clinical Genetics Services
  • Expert Review Green
Tags
Green Green List (high evidence)
KIF14
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)
KMT2D
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
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)
LIFR
4 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • 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
  • Victorian Clinical Genetics Services
  • Expert Review Green
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
  • Victorian Clinical Genetics Services
  • Expert Review Green
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 Green
  • Expert Review
Phenotypes
  • Brain malformations with or without urinary tract defects - MIM#613735
Tags
Green Green List (high evidence)
NIPBL
1 review
1 green 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
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
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • 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
  • Literature
  • Expert Review Green
  • 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
  • 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
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
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
  • 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)
REN
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)
RET
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • 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
  • Expert Review Green
  • 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
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • 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
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)
SALL1
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
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)
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
  • Literature
  • Expert Review Green
  • 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 Green
  • Expert Review
Phenotypes
  • ZTTK syndrome, MIM# 617140
Tags
Green Green List (high evidence)
STRA6
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)
TBC1D1
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • Expert Review Green
  • Expert Review Green
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • CAKUT
Tags
Green Green List (high evidence)
TBX18
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • 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 Green
  • Expert Review
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
  • Victorian Clinical Genetics Services
  • Expert Review Green
  • 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
  • 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 Review Green
  • Expert list
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 Review Green
  • Expert list
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
  • Literature
  • 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
  • Expert Review Amber
  • Expert Review
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
  • Victorian Clinical Genetics Services
  • Expert Review Amber
  • Expert Review Amber
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 Review Green
  • Expert Review Amber
  • Expert list
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 Review Amber
  • NHS GMS
  • Expert list
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
  • Victorian Clinical Genetics Services
  • Expert Review Amber
  • 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
  • Expert Review Amber
  • Expert list
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
  • Literature
  • Expert Review Amber
  • 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
  • Other
  • Expert Review Amber
  • 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
  • Victorian Clinical Genetics Services
  • Expert Review Amber
  • 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
  • Expert Review Amber
  • Expert list
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
  • Victorian Clinical Genetics Services
  • Expert Review Amber
  • 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)
WNT9B
2 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Literature
  • Expert Review Amber
  • Expert Review Amber
  • Expert Review Amber
  • 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
  • Expert Review Red
  • Expert list
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
  • Literature
  • Expert Review Red
  • 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
  • Expert Review Red
  • Expert list
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
  • Victorian Clinical Genetics Services
  • Expert Review Red
  • 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
  • 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
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Red
  • Expert Review Green
Phenotypes
  • Hypogonadotropic hypogonadism 6 with or without anosmia
  • OMIM #612702
Tags
Red Red List (low evidence)
FGFR1
1 review
 Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
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 Review Green
  • Expert Review Red
  • Expert list
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
  • 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
  • Victorian Clinical Genetics Services
  • Expert Review Red
Tags
Red Red List (low evidence)
HOXB6
3 reviews
2 red 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
  • 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
  • Victorian Clinical Genetics Services
  • Expert Review Red
  • 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
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Red
  • Expert Review Green
  • 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)
TBC1D31
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Red
  • 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
  • Victorian Clinical Genetics Services
  • Expert Review Red
  • 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
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Red
  • Expert Review Green
Tags
Red Red List (low evidence)
UPK3A
1 review
1 red 		Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Red
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
Red Red List (low evidence)
WNT4
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
  • Expert Review Red
  • Expert Review Amber
  • Expert Review Amber
  • Expert Review Red
  • Victorian Clinical Genetics Services
  • Victorian Clinical Genetics Services
Phenotypes
  • SERKAL syndrome
  • OMIM #611812
Tags

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