Description
This panel has been generated from the list of diagnostic genes for Non-syndromic Congenital anomalies of the kidney and urinary tract (CAKUT) from Victorian Clinical Genetics Services (VCGS), Australia, provided by Zornitza Stark (December 2019).

This panel is being hosted in Genomics England PanelApp to allow systematic panel comparison between Genomics England PanelApp and PanelApp Australia.

For the original VCGS panel, visit the PanelApp Australia site: https://panelapp.agha.umccr.org/panels/

34 Entities

0 reviewed, 23 green

List Entity Reviews Mode of inheritance Details
34 Entitiess
Green Green List (high evidence)
BICC1
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
CHD1L
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
DSTYK
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
FGF8
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
GATA3
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
GREB1L
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HNF1B
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
HPSE2
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
ITGA8
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
LIFR
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
LRIG2
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
PAX2
0 reviews
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
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SIX2
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SLIT2
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SOX17
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
SRGAP1
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TBC1D1
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TBX18
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TNXB
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
TRAP1
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Green Green List (high evidence)
WNT4
0 reviews
Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Tags
Amber Amber List (moderate evidence)
BMP7
0 reviews
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)
CDC5L
0 reviews
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)
FGF20
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Renal hypodysplasia/aplasia 2, MIM#615721
Tags
Amber Amber List (moderate evidence)
SOX11
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
Phenotypes
  • Congenital abnormalities of the kidneys and urinary tract
Tags
Red Red List (low evidence)
CDX2
0 reviews
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
FGFR1
0 reviews
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
HOXA4
0 reviews
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
HOXB6
0 reviews
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
NPHP3
0 reviews
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
UMOD
0 reviews
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags
Red Red List (low evidence)
UPK3A
0 reviews
Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Tags

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