1. Panels
  2. Metabolic renal disease_KidGen
This Panel is marked as Deleted

Metabolic renal disease_KidGen (Version 0.4)

Level 2: Renal and urinary tract disorders

Panel types: External Diagnostic Lab
Description
This panel has been generated from the list of diagnostic genes for Metabolic renal disease 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 KidGen panel, visit the PanelApp Australia site: https://panelapp.agha.umccr.org/panels/
Panel Activity

23 Entities

0 reviewed, 23 green

List Entity Reviews Mode of inheritance Details
23 Entitiess
Green List (high evidence)
AGXT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hyperoxaluria, primary, type 1, MIM#259900
Tags
Green List (high evidence)
APRT
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Adenine phosphoribosyltransferase deficiency, MIM#614723
Tags
Green List (high evidence)
BCS1L
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
CPT2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
CTNS
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
CYP11B1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
CYP17A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
CYP21A2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
FAH
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
GLA
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
GRHPR
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
HOGA1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
HPRT1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
HSD17B4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
LCAT
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
MUT
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
NR3C1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
RMND1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
RRM2B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
SARS2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
SLC26A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
SLC7A7
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags
Green List (high evidence)
XDH
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_MetabolicRenal v38.1.0
Tags

Downloads

Download lists

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

Download Version