PanelApp (staging)
  1. Panels
  2. Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic
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 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)
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)
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)
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)
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)
HNF1B
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
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)
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)
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 Green List (high evidence)
LRIG2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green 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 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)
PAX2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
RET
0 reviews
 Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ROBO2
1 review
1 green 		Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
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)
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)
TRAP1
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • CAKUT
  • VACTERL
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)
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
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 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 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 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
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)
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 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)
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 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 Red List (low evidence)
FGFR1
2 reviews
1 green 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
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)
SIX2
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • CAKUT
Tags
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
3 reviews
2 green 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
Tags
Red 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

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