Description
This panel is used for clinical indication 'R129 Catecholaminergic polymorphic VT' in the NHS Genomic Medicine Service.

Further information on the testing criteria and any overlapping clinical indications can be found within (https://www.england.nhs.uk/publication/national-genomic-test-directories/) under 'R129 Catecholaminergic polymorphic VT'.

The content of this panel is overseen by the NHS Genomic Medicine Service governance. In addition to the evidence for a gene:disease association, this requires consideration of technical aspects regarding the assay(s) available.

If this panel is not being delivered by WGS, CNVs and STRs may not be routinely included in the analysis. Please contact your local Genomic Laboratory Hub for information regarding specific queries.

Some of the genes in this panel cause conditions that typically present in adulthood. Please consider this when applying the panel.

This panel was originally developed for the 100,000 Genomes Project and is still being used for participants in the project. For the rare disease eligibility criteria refer to: https://www.genomicsengland.co.uk/rarediseasecriteria100K

3 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Teofila (Tootie) Bueser (King's College Hospital and Guy's & St Thomas' Hospital)

    Group: GeCIP domain
    Workplace: NHS clinical service

  • Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

9 Entities

9 reviewed, 5 green

List Entity Reviews Mode of inheritance Details
9 Entitiess
Green Green List (high evidence)
CALM1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 4
  • catecholaminergic polymorphic ventricular tachycardia
Tags
Green Green List (high evidence)
CALM2
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Oxford Medical Genetics Laboratory
Phenotypes
  • Long QT syndrome 15
Tags
Green Green List (high evidence)
CASQ2
3 reviews
2 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 2
Tags
Green Green List (high evidence)
RYR2
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 1
  • catecholaminergic polymorphic ventricular tachycardia
  • Catecholaminergic polymorphic ventricular tachycardia
Tags
Green Green List (high evidence)
TRDN
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
  • catecholaminergic polymorphic ventricular tachycardia
Tags
Red Red List (low evidence)
ANK2
2 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • catecholaminergic polymorphic ventricular tachycardia
Tags
Red Red List (low evidence)
CALM3
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Oxford Medical Genetics Laboratory
Tags
Red Red List (low evidence)
KCNE1
1 review
Unknown
Sources
  • Literature
Phenotypes
  • Catecholaminergic polymorphic ventricular tachycardia
  • Long QT syndrome
Tags
Red Red List (low evidence)
KCNJ2
2 reviews
1 red
Not set
Sources
  • Expert list
  • UKGTN
Phenotypes
  • catecholaminergic polymorphic ventricular tachycardia
Tags

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