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  3. TRPM4
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Molecular autopsy

Gene: TRPM4

Green List (high 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: 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: 0.55

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • North West GLH
  • Expert Review Green
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

14 Feb 2019, Gel status: 4

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 http://www.ncbi.nlm.nih.gov/pubmed/23382873 to 23382873

16 Jan 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: TRPM4 were changed from to Progressive familial heart block, type IB 604559

20 Dec 2018, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: TRPM4 was added gene: TRPM4 was added to Molecular autopsy. Sources: Expert Review Green Mode of inheritance for gene: TRPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRPM4 were set to http://www.ncbi.nlm.nih.gov/pubmed/23382873