Description
This panel is used for clinical indication 'R128 Brugada 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 'R128 Brugada 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

  • 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

  • Sarah Leigh (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Jules Hancox (University of Bristol)

    Group: GeCIP domain
    Workplace: Research lab

  • Eleanor Williams (Genomics England Curator)

    Group: Other
    Workplace: Other

23 Entities

23 reviewed, 9 green

List Entity Reviews Mode of inheritance Details
23 Entitiess
Green Green List (high evidence)
CACNB2
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Brugada syndrome 4
Tags
Green Green List (high evidence)
GPD1L
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Brugada syndrome 2
Tags
Green Green List (high evidence)
HCN4
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Brugada syndrome 8
Tags
Green Green List (high evidence)
KCNE3
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Brugada syndrome 6
Tags
Green Green List (high evidence)
SCN10A
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Oxford Medical Genetics Laboratory
Tags
Green Green List (high evidence)
SCN1B
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Brugada syndrome 5
Tags
Green Green List (high evidence)
SCN3B
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • UKGTN
Phenotypes
  • Brugada syndrome 7
Tags
Green Green List (high evidence)
SCN5A
3 reviews
1 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
  • Brugada syndrome 1
Tags
Green Green List (high evidence)
TRPM4
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Oxford Medical Genetics Laboratory
Phenotypes
  • Progressive familial heart block, type IB 604559
Tags
Red Red List (low evidence)
ABCC9
1 review
Unknown
Sources
  • Literature
Phenotypes
  • Brugada syndrome
  • Dilated cardiomyopathy
Tags
Red Red List (low evidence)
ANK2
2 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Brugada/Brugada like syndrome
Tags
Red Red List (low evidence)
CACNA1C
2 reviews
1 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
Phenotypes
  • Brugada syndrome 3
Tags
Red Red List (low evidence)
CACNA2D1
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Brugada/Brugada like syndrome
Tags
Red Red List (low evidence)
CAV3
2 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Brugada/Brugada like syndrome
Tags
Red Red List (low evidence)
DLG1
2 reviews
1 red
Not set
Sources
  • Expert Review Removed
  • Oxford Medical Genetics Laboratory
Tags
Red Red List (low evidence)
KCND3
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Brugada/Brugada like syndrome
Tags
Red Red List (low evidence)
KCNE5
3 reviews
1 red
Not set
Sources
  • Expert Review Removed
  • Oxford Medical Genetics Laboratory
Phenotypes
  • atrial fibrillation
  • Brugada syndrome
Tags
Red Red List (low evidence)
KCNH2
3 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Brugada/Brugada like syndrome
  • Long QT syndrome 2 613688
  • Short QT syndrome 1 609620
Tags
Red Red List (low evidence)
KCNJ8
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Brugada/Brugada like syndrome
Tags
Red Red List (low evidence)
PKP2
1 review
Unknown
Sources
  • Literature
Phenotypes
  • Brugada syndrome
  • Dilated cardiomyopathy
  • Arrhythmogenic right ventricular cardiomyopathy
Tags
Red Red List (low evidence)
RANGRF
2 reviews
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Brugada/Brugada like syndrome
Tags
Red Red List (low evidence)
SCN2B
2 reviews
1 red
Not set
Sources
  • Expert Review Removed
  • Oxford Medical Genetics Laboratory
Tags
Red Red List (low evidence)
SLMAP
2 reviews
1 red
Not set
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Brugada/Brugada like syndrome
Tags

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