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Pain syndromes

Gene: TRPV1

Red List (low 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

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Red List (low evidence)

PMID: 36454632 Katz et al 2023 describe two individuals from a consanguineous Palestinian Arab family with elevated heat pain and cold pain threshold with insensitivity to application of capsaicin to mouth and skin. No obvious associated health issues reported in this 11 year old and 1 year old individual secondary to this. Homozygous TPRV1 c.993C>G; p.N331K variant identified in both individuals (absent from gnomAD, highly conserved). Variant cell lines demonstrated loss of channel function with normal expression. In addition, homozygous PROKR1 gene variant identified in both affected individuals with potential for contribution to phenotype.

PMID: 36472910 - knockin mouse models with missense TRPV1 variant (K710N) also showed reduced capsaicin-induced calcium influx in dorsal root ganglion neurons.
Sources: Literature
Created: 2 Mar 2023, 3:17 a.m. | Last Modified: 2 Mar 2023, 3:19 a.m.
Panel Version: 0.33

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Channelopathy-associated congenital insensitivity to pain, autosomal recessive - MONDO:0009459

Publications

Created: 2 Mar 2023, 3:17 a.m.
Last Modified: 2 Mar 2023, 3:19 a.m.
Panel version: 0.33

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Channelopathy-associated congenital insensitivity to pain, autosomal recessive - MONDO:0009459
OMIM
602076
Clinvar variants
Variants in TRPV1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

2 Mar 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trpv1 has been classified as Red List (Low Evidence).

2 Mar 2023, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: trpv1 has been classified as Red List (Low Evidence).

2 Mar 2023, Gel status: 0

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: TRPV1 was added gene: TRPV1 was added to Pain syndromes. Sources: Literature Mode of inheritance for gene: TRPV1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TRPV1 were set to PMID: 36454632; PMID: 36472910 Phenotypes for gene: TRPV1 were set to Channelopathy-associated congenital insensitivity to pain, autosomal recessive - MONDO:0009459 Review for gene: TRPV1 was set to RED