Short QT syndrome
Gene: TRPM4

TRPM4 (transient receptor potential cation channel subfamily M member 4)
EnsemblGeneIds (GRCh38): ENSG00000130529
EnsemblGeneIds (GRCh37): ENSG00000130529
OMIM: 606936, Gene2Phenotype
TRPM4 is in 3 panels

1 review

James Eden (Manchester)

Red List (low evidence)

Gene currently tested by alternative panel, very few short QT referrals to date. Only class 1-3 variants detected in this gene. 36 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: disputed association with Brugada syndrome 1 (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

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

Phenotypes
Progressive familial heart block, type IB (604559)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 14 Feb 2019, 1:38 p.m.

Panel version: 1.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

North West GLH
Brugada syndrome (Version 1.7)

Phenotypes

Progressive familial heart block, type IB (604559)

OMIM

606936

Clinvar variants

Variants in TRPM4

Penetrance

None

Publications

Panels with this gene

History Filter Activity

14 Feb 2019, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to TRPM4. Added phenotypes Progressive familial heart block, type IB (604559) for gene: TRPM4 Publications for gene TRPM4 were changed from to 30420954; 19862833; 16301704

20 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Jules Hancox: This is a very recent report.

15 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance