Likely inborn error of metabolism
Gene: TRPM6

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

1 review

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Relevant phenotype and at least 12 families reported with variants
Created: 23 Feb 2017, 5:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hypomagnesemia 1, intestinal 602014

Publications

Created: 23 Feb 2017, 5:16 p.m.

Panel version: Imported from Undiagnosed metabolic disorders panel version 0.304

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

London North GLH
NHS GMS
Expert Review Green

Phenotypes

Hypomagnesemia 1, intestinal 602014
Hypomagnesaemia type 1, intestinal (Disorder of magnesium metabolism)

OMIM

607009

Clinvar variants

Variants in TRPM6

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Feb 2019, Gel status: 4

Added New Source, Added New Source

Ivone Leong (Genomics England Curator)

Source NHS GMS was added to TRPM6. Source London North GLH was added to TRPM6.

8 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ellen McDonagh (Genomics England Curator)

Ellen McDonagh: Comment on mode of pathogenici

16 Dec 2018, Gel status: 4

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