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

CNVs, STRs and genes encoded by the mitochondrial genome may not be routinely included in the analysis where the panel is NOT delivered by WGS. Please contact your 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

6 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

  • Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • James Eden (Manchester)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Rebecca Whittington (South West GLH)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

10 Entities

10 reviewed, 5 green

List Entity Reviews Mode of inheritance Details
10 Entitiess
Green Green List (high evidence)
CALM1
5 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Long QT syndrome 14 (616247)
  • Ventricular tachycardia, catecholaminergic polymorphic, 4 (614916)
  • catecholaminergic polymorphic ventricular tachycardia
Tags
Green Green List (high evidence)
CALM2
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • Oxford Medical Genetics Laboratory
  • South West GLH
Phenotypes
  • Long QT syndrome 15
Tags
Green Green List (high evidence)
CASQ2
6 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 2 (611938)
  • Ventricular tachycardia, catecholaminergic polymorphic, 2
Tags
Green Green List (high evidence)
RYR2
6 reviews
5 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 1
  • Ventricular tachycardia, catecholaminergic polymorphic, 1 (604772)
  • Arrhythmogenic right ventricular dysplasia 2 (600996)
  • Catecholaminergic polymorphic ventricular tachycardia
  • catecholaminergic polymorphic ventricular tachycardia
Tags
Green Green List (high evidence)
TRDN
5 reviews
4 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness (615441)
  • catecholaminergic polymorphic ventricular tachycardia
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness
Tags
Amber Amber List (moderate evidence)
CALM3
3 reviews
1 red
Unknown
Sources
  • Expert Review Amber
  • London South GLH
  • Oxford Medical Genetics Laboratory
  • South West GLH
Tags
Amber Amber List (moderate evidence)
TECRL
2 reviews
1 green
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • South West GLH
Tags
Red Red List (low evidence)
ANK2
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
  • South West GLH
Phenotypes
  • catecholaminergic polymorphic ventricular tachycardia
Tags
Red Red List (low evidence)
KCNE1
2 reviews
1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Literature
  • South West GLH
Phenotypes
  • Catecholaminergic polymorphic ventricular tachycardia
  • Long QT syndrome
Tags
Red Red List (low evidence)
KCNJ2
4 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • North West GLH
  • South West GLH
  • UKGTN
Phenotypes
  • catecholaminergic polymorphic ventricular tachycardia
  • Atrial fibrillation, familial, 9 (613980)
  • Andersen syndrome (170390)
  • Short QT syndrome 3 (609622)
Tags

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