Genes in panel
Regions in panel
Prev Next

Mendeliome

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Single family and a lot of functional data.
Sources: Expert list
Created: 2 Apr 2020, 7:51 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

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

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Episodic pain syndrome, familial, 1, MIM# 615040
OMIM
604775
Clinvar variants
Variants in TRPA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Apr 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

2 Apr 2020, Gel status: 1

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 Mendeliome. Sources: Expert list Mode of inheritance for gene: TRPA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TRPA1 were set to 20547126; 16564016; 21468319; 28314413; 24778270; 24564660; 20718100 Phenotypes for gene: TRPA1 were set to Episodic pain syndrome, familial, 1, MIM# 615040 Review for gene: TRPA1 was set to AMBER