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Inborn errors of metabolism

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 7 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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • London North GLH
  • NHS GMS
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

Ellen McDonagh (Genomics England Curator)

gene: TRPM6 was added gene: TRPM6 was added to Inborn errors of metabolism. Sources: Expert Review Green Mode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRPM6 were set to 27604308; 23942199; 12032570 Phenotypes for gene: TRPM6 were set to Hypomagnesemia 1, intestinal 602014; Hypomagnesaemia type 1, intestinal (Disorder of magnesium metabolism)