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  3. TRPM4
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Fetal anomalies

Gene: TRPM4

Red List (low evidence)
TRPM4 (transient receptor potential cation channel subfamily M member 4)
EnsemblGeneIds (GRCh38): ENSG00000130529
EnsemblGeneIds (GRCh37): ENSG00000130529
OMIM: 606936, Gene2Phenotype
TRPM4 is in 4 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2025 & January 2026. 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, Elizabeth Young and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Tazeen Ashraf, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Tessa Homfray, Esther Kinning, and Soo-Mi Park (R21 Clinical Oversight Group).
Created: 10 Mar 2026, 11:35 a.m. | Last Modified: 10 Mar 2026, 11:35 a.m.
Panel Version: 6.148
Created: 10 Mar 2026, 11:35 a.m.
Last Modified: 10 Mar 2026, 11:35 a.m.
Panel version: 6.148

Anna de Burca (Oxford University Hospitals NHS Foundation Trust)

Red List (low evidence)

Two phenotypes - Erythrokeratodermia variabilis et progressiva 6 (skin condition, not detectable antenatally) & Progressive familial heart block, type IB. Latter could present antenatally but previously agreed that fetal arrythmias are not covered by this panel because they are not structural.
Created: 10 Mar 2026, 11:27 a.m. | Last Modified: 10 Mar 2026, 11:27 a.m.
Panel Version: 6.147

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Progressive familial heart block, type IB, OMIM:604559

Publications

Created: 10 Mar 2026, 11:27 a.m.
Last Modified: 10 Mar 2026, 11:27 a.m.
Panel version: 6.147

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Progressive familial heart block, type IB, OMIM:604559
OMIM
606936
Clinvar variants
Variants in TRPM4
Penetrance
None
Panels with this gene

History Filter Activity

10 Mar 2026, Gel status: 1

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Added phenotypes Progressive familial heart block, type IB, OMIM:604559 for gene: TRPM4

9 Mar 2026, Gel status: 1

Created, Added New Source, Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

gene: TRPM4 was added gene: TRPM4 was added to Fetal anomalies. Sources: Expert Review Red Mode of inheritance for gene: TRPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted