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  2. Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic

Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic (Version 0.119)

Level 2: Renal and urinary tract disorders

Relevant disorders: Abnormality of the urinary system HP:0000079
Panel types: Victorian Clinical Genetics Services, Royal Melbourne Hospital
Description
This panel was developed and is maintained by VCGS, and is part of the KidGen CAKUT SuperPanel.
Panel Activity

13 reviewers

  • Alison Yeung (Victorian Clinical Genetics Services)

  • Eleanor Williams (Genomics England)

  • Abhijit Kulkarni (Healius Pathology)

  • Renee Santoreneos (Victorian Clinical Genetics Services)

  • Ain Roesley (Victorian Clinical Genetics Services)

  • Chirag Patel (Genetic Health Queensland)

  • Krithika Murali (Victorian Clinical Genetics Services)

  • Dean Phelan (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Elena Savva (Victorian Clinical Genetics Services)

  • Naomi Baker (Victorian Clinical Genetics Services)

  • Melanie Marty (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

45 Entities

44 reviewed, 20 green

List Entity Reviews Mode of inheritance Details
45 Entitiess
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 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 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 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 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 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 List (high evidence)
HNF1B
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
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 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 List (high evidence)
LIFR
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
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
NPHP3
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
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)
PAX2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
RET
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green List (high evidence)
ROBO2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
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 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 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 List (high evidence)
TRAP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • CAKUT
  • VACTERL
Tags
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 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 List (moderate evidence)
FOXC1
3 reviews
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert Review Green
  • Literature
  • Victorian Clinical Genetics Services
Phenotypes
  • Congenital anomalies of the kidney and urinary tract (CAKUT)
Tags
Amber List (moderate evidence)
PTCH1
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)
SLIT2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • CAKUT
Tags
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 List (moderate evidence)
SRGAP1
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • CAKUT
Tags
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 List (low evidence)
BICC1
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
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 List (low evidence)
CBWD1
1 review
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • CAKUT
Tags
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 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 List (low evidence)
DSTYK
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)
FGF8
3 reviews
1 green 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 List (low evidence)
FGFR1
2 reviews
1 green 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
HOXA4
2 reviews
2 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
HOXB6
3 reviews
2 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
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
Tags
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 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 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 List (low evidence)
UMOD
3 reviews
2 green 1 red 		Unknown
Sources
  • Expert Review Green
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
UPK3A
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red List (low evidence)
WNT4
2 reviews
1 red 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • SERKAL syndrome
  • OMIM #611812
Tags

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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