Description
This panel is used for clinical indication 'R127 Long QT syndrome' 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 'R127 Long QT syndrome'.

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

6 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Bill Newman (Manchester Centre for Genomic Medicine)

    Group: other
    Workplace: other

  • Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Caroline Wright (Genomics England Curator)

    Group: Other
    Workplace: Genomics England

  • Damian Smedley (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

20 Entities

20 reviewed, 10 green

List Entity Reviews Mode of inheritance Details
20 Entitiess
Green Green List (high evidence)
ANK2
5 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Long QT syndrome-4
Tags
Green Green List (high evidence)
CACNA1C
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • UKGTN
Tags
Green Green List (high evidence)
KCNE1
4 reviews
2 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Long QT syndrome-5
Tags
Green Green List (high evidence)
KCNE2
5 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Long QT syndrome-6
Tags
Green Green List (high evidence)
KCNH2
4 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
  • Long QT syndrome-2
Tags
Green Green List (high evidence)
KCNJ2
4 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • UKGTN
Phenotypes
  • ANDERSEN SYNDROME (170390)
  • LONG QT SYNDROME 7 (170390)
Tags
Green Green List (high evidence)
KCNJ5
5 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Long QT syndrome 13
Tags
Green Green List (high evidence)
KCNQ1
4 reviews
2 green
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
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
  • Long QT syndrome-1
Tags
Green Green List (high evidence)
SCN5A
4 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
  • Long QT syndrome-3
Tags
Green Green List (high evidence)
SNTA1
6 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
Phenotypes
  • Long QT syndrome 12 612955
Tags
Red Red List (low evidence)
AKAP9
4 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Long QT syndrome-11
Tags
Red Red List (low evidence)
ALG10
3 reviews
1 red
Not set
Sources
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • {Acquired long QT syndrome, reduced susceptibility to}, 613688
Tags
Red Red List (low evidence)
CALM1
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Oxford Medical Genetics Laboratory
Phenotypes
  • Long QT syndrome 14
  • Ventricular tachycardia, catecholaminergic polymorphic, 4
Tags
Red Red List (low evidence)
CALM2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Oxford Medical Genetics Laboratory
Phenotypes
  • Long QT syndrome 15
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)
CAV3
5 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Long QT syndrome-9
Tags
Red Red List (low evidence)
KCNE3
1 review
Unknown
Sources
  • Literature
Phenotypes
  • Long QT syndrome
  • Brugada syndrome
Tags
Red Red List (low evidence)
NOS1AP
3 reviews
1 red
Not set
Sources
  • Expert list
Tags
Red Red List (low evidence)
RYR2
1 review
Unknown
Sources
  • Literature
Phenotypes
  • Long QT syndrome
  • Catecholaminergic polymorphic ventricular tachycardia
  • Arrhythmogenic right ventricular cardiomyopathy
Tags
Red Red List (low evidence)
SCN4B
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Long QT syndrome-10
Tags

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