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  3. TRPM7
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Fetal anomalies

Gene: TRPM7

Red List (low evidence)
TRPM7 (transient receptor potential cation channel subfamily M member 7)
EnsemblGeneIds (GRCh38): ENSG00000092439
EnsemblGeneIds (GRCh37): ENSG00000092439
OMIM: 605692, Gene2Phenotype
TRPM7 is in 4 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

Red List (low evidence)

One report of association of rare nonsynonymous variants with stillbirth in 4 cases (PMID: 31423533). Heterozygous missense variants in kinase domain also reported to be associated with recurrent pediatric acute liver failure (PMID: 39621058). Heterozygous missense variants primarily in ion transport domain associated with hypomagnesemia (PMID: 39099563, 35561741, 35712613). Not associated with any structural anomaly that would be detectable by scan.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to, MIM#105500

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: Adding this gene as amber. This gene should be reviewed for relevance on phenotypic grounds
Created: 7 Oct 2020, 3:54 p.m. | Last Modified: 7 Oct 2020, 3:54 p.m.
Panel Version: 1.100
PMID: 31423533 - Cartwright et al 2020 - functional studies on four heterozygous nonsynonymous variants that were observed in TRPM7 in four individual cases of unexplained still birth which were screened for variants in 35 candidate genes in PMID: 29874177 (Munroe et al 2018). TRPM7 is a ubiquitously expressed ion channel known to regulate cardiac development and repolarization in mice. They found two variants in TRPM7, p.G179V and p.T860M, reduce ion channel current expression, which in the case of p.T860M is likely due to rapid degradation mediated by the proteasome. In addition, the p.R494Q TRPM7 variant significantly increases TRPM7 ion channel current, in a cell-type specific manner. They believe that TRPM7 may play a key role in ensuring correct cardiac development of the fetus.
Created: 7 Oct 2020, 3:52 p.m. | Last Modified: 7 Oct 2020, 3:52 p.m.
Panel Version: 1.99

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Cardiac arrhythmia, stillbirth

Publications

Created: 7 Oct 2020, 3:52 p.m.
Last Modified: 7 Oct 2020, 3:52 p.m.
Panel version: 1.99

Zornitza Stark (Australian Genomics)

I don't know

I am not sure if genes linked to stillbirth belong on this panel. This gene encodes an ion channel expressed in the nervous and cardiac systems. It has previously been associated with ALS/dementia in the Guam population, but the variant in question, p.Thr1482Ile is present in >23,000 hets in gnomad, which is out of keeping for a rare Mendelian disorder. Note recent publication associating missense variants with cardiac arrhythmia and stillbirth, with some functional data provided to substantiate effect of variant on protein function but not necessarily establish gene-disease association.
Sources: Literature
Created: 7 Sep 2020, 10:13 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiac arrhythmia, stillbirth

Publications

Created: 7 Sep 2020, 10:13 p.m.

Panel version: 1.95

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
Phenotypes
  • Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to, OMIM:105500
  • Cardiac arrhythmia, stillbirth
OMIM
605692
Clinvar variants
Variants in TRPM7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2025, Gel status: 1

Added New Source, Added New Source, Set Phenotypes, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to TRPM7. Source Expert Review Red was added to TRPM7. Added phenotypes Amyotrophic lateral sclerosis-parkinsonism/dementia complex, susceptibility to, OMIM:105500 for gene: TRPM7 Publications for gene: TRPM7 were updated from 32503408; 31423533 to 39099563; 39621058; 35712613; 35561741; 31423533; 32503408 Rating Changed from Amber List (moderate evidence) to Red List (low evidence)

7 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: trpm7 has been classified as Amber List (Moderate Evidence).

7 Sep 2020, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: TRPM7 was added gene: TRPM7 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: TRPM7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPM7 were set to 32503408; 31423533 Phenotypes for gene: TRPM7 were set to Cardiac arrhythmia, stillbirth Review for gene: TRPM7 was set to AMBER