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Pain syndromes

Gene: TRPA1

Amber List (moderate evidence)
TRPA1 (transient receptor potential cation channel subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000104321
EnsemblGeneIds (GRCh37): ENSG00000104321
OMIM: 604775, Gene2Phenotype
TRPA1 is in 3 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Two families with variants described. A family with cramp-fasciculation syndrome segregates a nonsense variant (p.Arg919Ter), but no functional assays conducted and unsure of mechanism of disease. Also a large Colombian family with episodic pain syndrome segregating a gain-of-function missense variant.
Created: 25 Feb 2021, 4:09 a.m. | Last Modified: 25 Feb 2021, 4:09 a.m.
Panel Version: 0.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
?Episodic pain syndrome, familial, 1 MIM#615040; Cramp-fasciculation syndrome

Publications

Created: 25 Feb 2021, 4:09 a.m.
Last Modified: 25 Feb 2021, 4:09 a.m.
Panel version: 0.4

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family and a lot of functional data.
Created: 2 Apr 2020, 7:52 a.m. | Last Modified: 2 Apr 2020, 7:52 a.m.
Panel Version: 0.4

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Episodic pain syndrome, familial, 1, MIM# 615040

Publications

Created: 2 Apr 2020, 7:52 a.m.
Last Modified: 2 Apr 2020, 7:52 a.m.
Panel version: 0.4

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Genomics England PanelApp
Phenotypes
  • Familial episodic pain syndrome type I
  • Episodic pain syndrome, familial, 615040
OMIM
604775
Clinvar variants
Variants in TRPA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: trpa1 has been classified as Amber List (Moderate Evidence).

25 Feb 2021, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: trpa1 has been classified as Amber List (Moderate Evidence).

1 Apr 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes Familial episodic pain syndrome type I; Episodic pain syndrome, familial, 615040 for gene: TRPA1

1 Apr 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TRPA1 was added gene: TRPA1 was added to Pain syndromes. Sources: Genomics England PanelApp,Expert Review Green Mode of inheritance for gene: TRPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TRPA1 were set to 28314413; 21468319; 24778270; 20718100; 16564016; 28436534; 24564660; 20547126 Phenotypes for gene: TRPA1 were set to Familial episodic pain syndrome type I; Episodic pain syndrome, familial, 615040