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  3. TRPV1
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Malignant Hyperthermia Susceptibility

Gene: TRPV1

Amber List (moderate evidence)
TRPV1 (transient receptor potential cation channel subfamily V member 1)
EnsemblGeneIds (GRCh38): ENSG00000196689
EnsemblGeneIds (GRCh37): ENSG00000196689
OMIM: 602076, Gene2Phenotype
TRPV1 is in 4 panels

2 reviews

Bryony Thompson (Royal Melbourne Hospital)

I don't know

3 cases with a muscle biopsy sensitive for halothane but not for caffeine, MHSh, and a single case susceptible to both (MHS). One of the MHSh cases was from a family with RYR1-associated myopathy, where the TRPV1 occurred with RYR1 variants. Two of the cases had a clinical diagnosis of malignant hyperthermia and two of the cases had an exertional heat stroke episode. Supporting functional assays in HEK293 cells and trpv1 -/- mouse muscle, demonstrated impairment of intracellular Ca2+ signaling.
Created: 6 Oct 2020, 7:38 a.m. | Last Modified: 6 Oct 2020, 7:42 a.m.
Panel Version: 0.11

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Malignant hyperthermia susceptibility; exertional heat stroke

Publications

Created: 6 Oct 2020, 7:38 a.m.
Last Modified: 6 Oct 2020, 7:42 a.m.
Panel version: 0.11

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Two individuals reported with rare/novel missense variants in this gene, some functional data.
Sources: Literature
Created: 21 Apr 2020, 4:16 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Susceptibility to malignant hyperthermia

Publications

Created: 21 Apr 2020, 4:16 a.m.

Panel version: Imported from Mendeliome panel version 0.2553

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Literature
  • Literature
Phenotypes
  • Malignant hyperthermia susceptibility
OMIM
602076
Clinvar variants
Variants in TRPV1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jan 2021, Gel status: 2

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: TRPV1 were set to

6 Oct 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: trpv1 has been classified as Amber List (Moderate Evidence).

6 Oct 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TRPV1 was added gene: TRPV1 was added to Malignant Hyperthermia Susceptibility. Sources: Literature Mode of inheritance for gene: TRPV1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TRPV1 were set to Malignant hyperthermia susceptibility