Description
This panel has been generated from the list of diagnostic genes for Renal abnormalities of magnesium metabolism 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/

18 Entities

0 reviewed, 18 green

List Entity Reviews Mode of inheritance Details
18 Entitiess
Green Green List (high evidence)
BSND
0 reviews
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Bartter syndrome, Type 4a, MIM#602522
Tags
Green Green List (high evidence)
CASR
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Hypocalcemia, autosomal dominant, with Bartter syndrome, MIM#601198
Tags
Green Green List (high evidence)
CLCNKB
0 reviews
Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green Green List (high evidence)
CLDN10
0 reviews
Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green Green List (high evidence)
CLDN16
0 reviews
Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green Green List (high evidence)
CLDN19
0 reviews
Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green Green List (high evidence)
CNNM2
0 reviews
Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green Green List (high evidence)
EGF
0 reviews
Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green Green List (high evidence)
EGFR
0 reviews
Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green Green List (high evidence)
FAM111A
0 reviews
Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green Green List (high evidence)
FXYD2
0 reviews
Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green Green List (high evidence)
HNF1B
0 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Renal cysts and diabetes syndrome, MIM#137920
Tags
Green Green List (high evidence)
KCNA1
0 reviews
Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green Green List (high evidence)
KCNJ10
0 reviews
Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green Green List (high evidence)
PCBD1
0 reviews
Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green Green List (high evidence)
SARS2
0 reviews
Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green Green List (high evidence)
SLC12A3
0 reviews
Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags
Green Green List (high evidence)
TRPM6
0 reviews
Unknown
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Tags

Downloads