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Research panel - Severe Paediatric Disorders

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

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: TRPM4; Recommended initial gene rating: Green List (high evidence); Phenotypes: Erythrokeratodermia veriabilis et progressiva 6, 618531 (3) | Progressive familial heart block, type IB, 604559 (3); Mode of inheritance: Autosomal dominant | Autosomal dominant
Created: 20 Feb 2020, 5:27 p.m. | Last Modified: 20 Feb 2020, 5:27 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:27 p.m.
Last Modified: 20 Feb 2020, 5:27 p.m.
Panel version: 0.12

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Erythrokeratodermia veriabilis et progressiva 6, 618531
  • Progressive familial heart block, type IB, 604559
OMIM
606936
Clinvar variants
Variants in TRPM4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene TRPM4 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Erythrokeratodermia veriabilis et progressiva 6, 618531; Progressive familial heart block, type IB, 604559 for gene: TRPM4

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Erythrokeratodermia veriabilis et progressiva 6, 618531; Progressive familial heart block, type IB, 604559 for gene: TRPM4

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Erythrokeratodermia veriabilis et progressiva 6, 618531; Progressive familial heart block, type IB, 604559 for gene: TRPM4

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Progressive familial heart block, type IB, 604559; Erythrokeratodermia veriabilis et progressiva 6, 618531 for gene: TRPM4

19 Feb 2020, Gel status: 3

Set mode of inheritance, Set Phenotypes

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene TRPM4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Added phenotypes Erythrokeratodermia veriabilis et progressiva 6, 618531; Progressive familial heart block, type IB, 604559 for gene: TRPM4

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to TRPM4.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to TRPM4. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: TRPM4 was added gene: TRPM4 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: TRPM4 was set to