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  2. Likely inborn error of metabolism
  3. TRPM7
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Likely inborn error of metabolism

Gene: TRPM7

Amber List (moderate 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

1 review

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Heterozygous TRPM7 variants are associated with hypomagnesaemia with secondary hypocalcaemia (HSH)(PMID: 39099563; 35712613; 35561741). Six TRPM7 variants have been identified in six unrelated cases of HSH, one of the variants was found in three members of one family. The remaining variants were de novo. In addition to HSH, other phenotypic feature have been seen in those carrying TRPM7 variants, including seizures (4/6), motor skill defects (5/6), autism spectrum disorder (4/6) (PMID: 39099563; 35712613; 35561741). Functional studies suggest a loss of function effect of the TRPM7 variants (PMID: 39099563; 35561741).
Sources: Literature
Created: 12 Feb 2025, 12:36 p.m.

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

Phenotypes
hypomagnesaemia with secondary hypocalcaemia

Publications

Created: 12 Feb 2025, 12:36 p.m.

Panel version: 7.10

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • hypomagnesaemia with secondary hypocalcaemia
Tags
Q1_25_ promote_green
OMIM
605692
Clinvar variants
Variants in TRPM7
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2025, Gel status: 2

Removed Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_23_promote_green was removed from gene: TRPM7. Tag Q1_25_ promote_green tag was added to gene: TRPM7.

12 Feb 2025, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

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

12 Feb 2025, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: TRPM7 was added gene: TRPM7 was added to Likely inborn error of metabolism. Sources: Literature Q1_23_promote_green tags were added to gene: TRPM7. Mode of inheritance for gene: TRPM7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRPM7 were set to 39099563; 35712613; 35561741 Phenotypes for gene: TRPM7 were set to hypomagnesaemia with secondary hypocalcaemia Review for gene: TRPM7 was set to GREEN