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  2. Renal Tubulopathies and related disorders
  3. TRPM6
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Renal Tubulopathies and related disorders

Gene: TRPM6

Green List (high evidence)
TRPM6 (transient receptor potential cation channel subfamily M member 6)
EnsemblGeneIds (GRCh38): ENSG00000119121
EnsemblGeneIds (GRCh37): ENSG00000119121
OMIM: 607009, Gene2Phenotype
TRPM6 is in 9 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association. Multiple NMD-predicted and splice variants reported as pathogenic.
Created: 14 Jun 2021, 8:33 a.m. | Last Modified: 14 Jun 2021, 8:33 a.m.
Panel Version: 0.26

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypomagnesaemia 1, intestinal (MIM#602014)

Created: 14 Jun 2021, 8:33 a.m.
Last Modified: 14 Jun 2021, 8:33 a.m.
Panel version: Imported from Renal Abnormalities of Magnesium Metabolism panel version 0.26

Kristin Rigbye (Victorian Clinical Genetics Services)

Green List (high evidence)

Well established gene-disease association. Multiple NMD-predicted and splice variants reported as pathogenic. Also, a pathogenic missense has been shown to abrogate TRPM6/TRPM7 hetero-oligomerisation (OMIM).
Created: 14 Jun 2021, 5:56 a.m. | Last Modified: 14 Jun 2021, 5:56 a.m.
Panel Version: 0.7967

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypomagnesemia 1, intestinal (MIM#602014), AR

Created: 14 Jun 2021, 5:56 a.m.
Last Modified: 14 Jun 2021, 5:56 a.m.
Panel version: Imported from Hypomagnesaemia panel version Imported from Mendeliome panel version 0.7967

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
  • Expert Review Green
  • KidGen_Magnesium v38.1.0
Phenotypes
  • Hypomagnesaemia 1, intestinal (MIM#602014)
OMIM
607009
Clinvar variants
Variants in TRPM6
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRPM6 was added gene: TRPM6 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green Mode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRPM6 were set to 21669885 Phenotypes for gene: TRPM6 were set to Hypomagnesaemia 1, intestinal (MIM#602014)