Paroxysmal central nervous system disorders
Gene: TRPA1
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
Not a CNS disorderCreated: 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
Gene: trpa1 has been classified as Red List (Low Evidence).
Gene: trpa1 has been classified as Red List (Low Evidence).
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
Source NHS GMS was added to TRPA1.
Source London North GLH was added to TRPA1.
Source Wessex and West Midlands GLH was added to TRPA1.
Added phenotypes Episodic pain syndrome, familial, 615040; Familial episodic pain syndrome type I for gene: TRPA1
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