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  2. Hereditary Neuropathy_CMT - isolated
  3. TRPA1
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Hereditary Neuropathy_CMT - isolated

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 3 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family reported, a lot of functional literature; pain insensitivity covered in Pain Syndromes panel.
Created: 2 Apr 2020, 7:46 a.m. | Last Modified: 2 Apr 2020, 7:46 a.m.
Panel Version: 0.18

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Created: 2 Apr 2020, 7:46 a.m.
Last Modified: 2 Apr 2020, 7:46 a.m.
Panel version: 0.18

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Episodic pain syndrome, familial, 1
  • HSAN/SFN
OMIM
604775
Clinvar variants
Variants in TRPA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Apr 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TRPA1 were set to

2 Apr 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TRPA1 was added gene: TRPA1 was added to Hereditary Neuropathy - isolated_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TRPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TRPA1 were set to Episodic pain syndrome, familial, 1; HSAN/SFN