Pain syndromes

Gene: TRPA1

Green List (high evidence)

TRPA1 (transient receptor potential cation channel subfamily A member 1)
EnsemblGeneIds (GRCh38): ENSG00000104321
EnsemblGeneIds (GRCh37): ENSG00000104321
OMIM: 604775, Gene2Phenotype
TRPA1 is in 4 panels

2 reviews

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comments from Dave Bennett: Just a word of caution on publication (PMID:28436534). This is interesting but there is no functional analysis of the p.Arg919* which would be really important to see how a heterozygous premature stop codon can cause GAIN of function in the channel- caution is therefore advised in interpretation. (add as comment)
Created: 19 Sep 2017, 9:53 a.m.
The TRPA1 gene encodes for cation channel expressed in primary afferent nociceptors; mutations described in two families.
Created: 27 Jun 2017, 12:36 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Episodic pain syndrome, familial 615040; Familial episodic pain syndrome type I

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: changed from amber to green due to review by Arianna Tucci
Created: 9 Jul 2017, 6:30 p.m.
Comment on list classification: To be reviewed by clinical team for inclusion as a Green gene, refer to new publication PMID:28436534 (2017)
Created: 9 Jul 2017, 4:49 p.m.
Comment on publications: added 28436534 from Arianna Tucci
Created: 9 Jul 2017, 4:48 p.m.
1 large 4 generation family (2010) with one single point mutation. Add tag Treatable. PMID: 28314413. Autosomal dominant mutation was found in a single Colombian family, with carriers experiencing significant pain in various regions of the body in response to changes in environmental conditions. A single-point mutation, N855S, in the S4 loop of TRPA1 causes a shift in gating prop- erties, with a dramatic increase in inward currents and activation at normal resting potentials. Specific TRPA1 antagonists inhibit the abnormal response of the mutant TRPA1 channel in vitro, providing confidence that TRPA1 inhibition will alleviate painful symptoms in sufferers of FEP. Additionally, a mutational variant at position 179 of the TRPA1 ankyrin repeat 4 (E179K) appears to be crucial for the generation of paradoxical heat sensation (PHS) in neuropathic pain patients PMID: 21468319.
Created: 9 Jul 2017, 4:30 p.m.

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

Phenotypes
Episodic pain syndrome, familial; 615040

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literaure
  • Review
Phenotypes
  • Episodic pain syndrome, familial, 615040
  • Familial episodic pain syndrome type I
OMIM
604775
Clinvar variants
Variants in TRPA1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

19 Sep 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

19th September 2017. Panel reviews were assessed, and panel was revised according to reviews and further curation.

19 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for TRPA1 were set to Episodic pain syndrome, familial, 615040; Familial episodic pain syndrome type I

19 Sep 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for TRPA1 were set to Episodic pain syndrome, familial, 615040

9 Jul 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Jul 2017, Gel status: 2

Set publications

Louise Daugherty (Genomics England Curator)

Publications for TRPA1 were set to 20547126; 16564016; 21468319; 28314413; 24778270; 24564660; 20718100; 28436534

9 Jul 2017, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

9 Jul 2017, Gel status: 0

Added New Source

Louise Daugherty (Genomics England Curator)

TRPA1 was added to Pain syndromespanel. Sources: Literaure,Review

9 Jul 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

TRPA1 was created by LouiseD