Paroxysmal central nervous system disorders

Gene: TRPA1

Red List (low 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

3 reviews

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Red List (low evidence)

Rebecca Foulger (Genomics England curator)

I don't know

Comment on list classification: Demoted TRPA1 from Green to Red based on Red reviews from both London North GLH, and West Midlands, Oxford and Wessex GLH.
Created: 9 Sep 2019, 3:31 p.m. | Last Modified: 9 Sep 2019, 3:31 p.m.
Panel Version: 0.78
Review and rating from James Polke (Neurogenetics Laboratory, Institute of Neurology, London) was collated (February 2019) on behalf of London North GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 2:39 p.m. | Last Modified: 2 Sep 2019, 2:39 p.m.
Panel Version: 0.26
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust) was collated (February 2019) on behalf of West Midlands, Oxford and Wessex GLH for the GMS Neurology specialist test group.
Created: 2 Sep 2019, 1:39 p.m. | Last Modified: 2 Sep 2019, 1:39 p.m.
Panel Version: 0.23

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Not a CNS disorder
Created: 2 Sep 2019, 1:30 p.m. | Last Modified: 2 Sep 2019, 1:30 p.m.
Panel Version: 0.22

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

Phenotypes
Episodic pain syndrome, familial, 1, 615040

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
Phenotypes
  • ?Episodic pain syndrome, familial, 1, 615040
  • Familial episodic pain syndrome type I
OMIM
604775
Clinvar variants
Variants in TRPA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: trpa1 has been classified as Red List (Low Evidence).

9 Sep 2019, Gel status: 1

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: trpa1 has been classified as Red List (Low Evidence).

9 Sep 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TRPA1 were changed from Episodic pain syndrome, familial, 615040; Familial episodic pain syndrome type I to ?Episodic pain syndrome, familial, 1, 615040; Familial episodic pain syndrome type I

2 Sep 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source NHS GMS was added to TRPA1.

2 Sep 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source London North GLH was added to TRPA1.

2 Sep 2019, Gel status: 3

Added New Source

Rebecca Foulger (Genomics England curator)

Source Wessex and West Midlands GLH was added to TRPA1.

3 Jan 2019, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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

3 Jan 2019, Gel status: 4

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

Ellen McDonagh (Genomics England Curator)

gene: TRPA1 was added gene: TRPA1 was added to Paroxysmal neurological disorders, pain disorders and sleep disorders. Sources: 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; 20718100; 28436534; 24778270; 16564016; 20547126; 24564660; 21468319 Phenotypes for gene: TRPA1 were set to Episodic pain syndrome, familial, 615040; Familial episodic pain syndrome type I