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 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

9 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

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

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

  • 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

20 Entities

20 reviewed, 7 green

List Entity Reviews Mode of inheritance Details
20 Entitiess
Green Green List (high evidence)
CACNA1C
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • London South GLH
  • North West GLH
  • South West GLH
  • UKGTN
Phenotypes
  • Brugada syndrome 3 (611875)
  • Timothy syndrome (601005)
Tags
Green Green List (high evidence)
KCNE1
7 reviews
5 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • 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
  • Long QT syndrome 5 (613695)
  • Jervell and Lange-Nielsen syndrome 2 (612347)
Tags
Green Green List (high evidence)
KCNE2
8 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • 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
  • Long QT syndrome 6 (613693)
  • Atrial fibrillation, familial, 4 (611493)
Tags
Green Green List (high evidence)
KCNH2
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
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
  • Short QT syndrome 1 (609620)
  • Long QT syndrome-2
  • Long QT syndrome-2 (613688)
Tags
Green Green List (high evidence)
KCNJ2
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Green
  • London South GLH
  • North West GLH
  • South West GLH
  • UKGTN
Phenotypes
  • Andersen syndrome (170390)
  • Atrial fibrillation, familial, 9 (613980)
  • ANDERSEN SYNDROME (170390)
  • LONG QT SYNDROME 7 (170390)
  • Short QT syndrome 3 (609622)
Tags
Green Green List (high evidence)
KCNQ1
7 reviews
5 green
BOTH monoallelic and 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
  • Jervell and Lange-Nielsen syndrome (220400)
  • Atrial fibrillation, familial, 3 (607554)
  • Long QT syndrome-1 (192500)
  • Long QT syndrome-1
  • Short QT syndrome 2 (609621)
Tags
Green Green List (high evidence)
SCN5A
7 reviews
5 green
BOTH monoallelic and 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 fibrillation, familial, 1 (603829)
  • Brugada syndrome 1 (601144)
  • Heart block, nonprogressive (113900)
  • Heart block, progressive, type IA (113900)
  • {Sudden infant death syndrome, susceptibility to} (272120)
  • Sick sinus syndrome 1 (608567)
  • Long QT syndrome-3
  • Long QT syndrome-3 (603830)
  • Cardiomyopathy, dilated, 1E (601154)
  • Atrial fibrillation, familial, 10 (614022)
Tags
Amber Amber List (moderate evidence)
CALM1
4 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London South GLH
  • Oxford Medical Genetics Laboratory
  • South West GLH
Phenotypes
  • Long QT syndrome 14
  • Ventricular tachycardia, catecholaminergic polymorphic, 4
Tags
Amber Amber List (moderate evidence)
CALM2
4 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Oxford Medical Genetics Laboratory
  • South West GLH
Phenotypes
  • Long QT syndrome 15
Tags
Amber Amber List (moderate evidence)
CALM3
4 reviews
1 red
Unknown
Sources
  • Expert Review Amber
  • Oxford Medical Genetics Laboratory
  • South West GLH
Tags
Red Red List (low evidence)
AKAP9
6 reviews
4 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Long QT syndrome-11 (611820)
  • Long QT syndrome-11
Tags
Red Red List (low evidence)
ALG10
4 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • {Acquired long QT syndrome, reduced susceptibility to}, 613688
Tags
Red Red List (low evidence)
ANK2
8 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Long QT syndrome-4
  • Cardiac arrhythmia, ankyrin-B-related (600919)
  • Long QT syndrome 4 (600919)
Tags
Red Red List (low evidence)
CAV3
7 reviews
1 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Long QT syndrome-9
Tags
Red Red List (low evidence)
KCNE3
2 reviews
1 red
Unknown
Sources
  • Literature
  • South West GLH
Phenotypes
  • Long QT syndrome
  • Brugada syndrome
Tags
Red Red List (low evidence)
KCNJ5
8 reviews
2 green 2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Hyperaldosteronism, familial, type III (613677)
  • Long QT syndrome 13 (613485)
  • Long QT syndrome 13
Tags
Red Red List (low evidence)
NOS1AP
4 reviews
2 red
Unknown
Sources
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
RYR2
3 reviews
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • London South GLH
  • South West GLH
Phenotypes
  • Long QT syndrome
  • Catecholaminergic polymorphic ventricular tachycardia
  • Arrhythmogenic right ventricular cardiomyopathy
Tags
Red Red List (low evidence)
SCN4B
6 reviews
5 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Long QT syndrome-10
  • Long QT syndrome-10 (611819)
Tags
Red Red List (low evidence)
SNTA1
9 reviews
1 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Red
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • South West GLH
  • UKGTN
Phenotypes
  • Long QT syndrome 12 612955
  • Long QT syndrome 12 (612955)
Tags

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