Description
This panel has been generated from the list of diagnostic genes for Renal tubulopathies 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/
Panel Activity

29 Entities

0 reviewed, 29 green

List Entity Reviews Mode of inheritance Details
29 Entitiess
Green Green List (high evidence)
AQP2
0 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Diabetes insipidus, nephrogenic, MIM#125800
Tags
Green Green List (high evidence)
ATP6V0A4
0 reviews
 BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Renal tubular acidosis, distal, autosomal recessive, MIM#602722
Tags
Green Green List (high evidence)
ATP6V1B1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
AVPR2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
BSND
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
CA2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
CLCN5
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
CLCNKA
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
CLCNKB
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
COQ9
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
EHHADH
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
GATM
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
HNF4A
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
KCNJ1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
KCNJ10
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
MAGED2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
OCRL
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
SLC12A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
SLC12A3
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
SLC22A12
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
SLC2A2
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
SLC2A9
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
SLC34A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
SLC3A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
SLC4A1
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
SLC4A4
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
SLC7A9
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
VIPAS39
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags
Green Green List (high evidence)
VPS33B
0 reviews
 Unknown
Sources
  • Expert Review Green
  • KidGen_Tubulopathies v38.1.0
Tags

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