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  3. TRPM4
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Sudden cardiac death - previous panel

Gene: TRPM4

Amber List (moderate 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

James Eden (Manchester)

Red List (low evidence)

Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 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: Imported from Molecular autopsy panel version 0.82

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: Added phenotype from OMIM that was missing on source Brugada syndrome panel
Created: 16 Jan 2019, noon
Created: 16 Jan 2019, noon

Panel version: Imported from Molecular autopsy panel version 0.55

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • North West GLH
Phenotypes
  • Progressive familial heart block, type IB (604559)
  • Progressive familial heart block, type IB 604559
OMIM
606936
Clinvar variants
Variants in TRPM4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

9 Sep 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: trpm4 has been classified as Amber List (Moderate Evidence).

9 Sep 2019, Gel status: 3

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

Ivone Leong (Genomics England Curator)

gene: TRPM4 was added gene: TRPM4 was added to Sudden cardiac death. Sources: Expert Review Green,North West GLH Mode of inheritance for gene: TRPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRPM4 were set to 23382873 Phenotypes for gene: TRPM4 were set to Progressive familial heart block, type IB (604559); Progressive familial heart block, type IB 604559