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 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

11 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

  • Louise Daugherty (Genomics England Curator)

    Group: Other
    Workplace: Other

  • Jules Hancox (University of Bristol)

    Group: GeCIP domain
    Workplace: Research lab

  • 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

  • Ivone Leong (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

23 Entities

23 reviewed, 1 green

List Entity Reviews Mode of inheritance Details
23 Entitiess
Green Green List (high evidence)
SCN5A
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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
  • Brugada syndrome 1, 601144
  • MONDO_0015263
Tags
Amber Amber List (moderate evidence)
KCNH2
7 reviews
1 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Amber
  • South West GLH
Phenotypes
  • Brugada/Brugada like syndrome
  • Long QT syndrome 2 613688
  • Short QT syndrome 1 609620
Tags
  • missense
Red Red List (low evidence)
ABCC9
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • North West GLH
  • South West GLH
Phenotypes
  • Cardiomyopathy, dilated, 1O (608569)
  • Brugada syndrome
  • Atrial fibrillation, familial, 12 (614050)
  • Dilated cardiomyopathy
Tags
Red Red List (low evidence)
ANK2
5 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
  • North West GLH
  • South West GLH
Phenotypes
  • Long QT syndrome 4 (600919)
  • Cardiac arrhythmia, ankyrin-B-related (600919)
  • Brugada/Brugada like syndrome
Tags
Red Red List (low evidence)
CACNA1C
4 reviews
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
  • Brugada syndrome 3
Tags
Red Red List (low evidence)
CACNA2D1
5 reviews
4 red
Unknown
Sources
  • Expert list
  • Expert Review Red
  • London South GLH
  • North West GLH
  • South West GLH
Phenotypes
  • Brugada/Brugada like syndrome
Tags
Red Red List (low evidence)
CACNB2
5 reviews
3 red
Unknown
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
Phenotypes
  • Brugada syndrome 4
  • Brugada syndrome 4 (611876)
Tags
Red Red List (low evidence)
CAV3
3 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
  • South West GLH
Phenotypes
  • Brugada/Brugada like syndrome
Tags
Red Red List (low evidence)
DLG1
3 reviews
2 red
Unknown
Sources
  • Expert Review Red
  • Oxford Medical Genetics Laboratory
  • South West GLH
Tags
Red Red List (low evidence)
GPD1L
5 reviews
3 red
Unknown
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
  • Brugada syndrome 2 (611777)
  • Brugada syndrome 2
Tags
Red Red List (low evidence)
HCN4
5 reviews
1 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert list
  • Expert Review Red
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Sick sinus syndrome 2 (163800)
  • Brugada syndrome 8
  • Brugada syndrome 8 (613123)
Tags
Red Red List (low evidence)
KCND3
4 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Red
  • London South GLH
  • South West GLH
Phenotypes
  • Brugada/Brugada like syndrome
Tags
Red Red List (low evidence)
KCNE3
5 reviews
3 red
Unknown
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
  • ?Brugada syndrome 6 (613119)
  • Brugada syndrome 6
Tags
Red Red List (low evidence)
KCNE5
5 reviews
3 red
Unknown
Sources
  • Expert Review Red
  • Oxford Medical Genetics Laboratory
  • South West GLH
Phenotypes
  • atrial fibrillation
  • Brugada syndrome
Tags
Red Red List (low evidence)
KCNJ8
4 reviews
3 red
Unknown
Sources
  • Expert list
  • Expert Review Red
  • London South GLH
  • South West GLH
Phenotypes
  • Brugada/Brugada like syndrome
Tags
Red Red List (low evidence)
PKP2
3 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • London South GLH
  • North West GLH
  • South West GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 9 (609040)
  • Brugada syndrome
  • Arrhythmogenic right ventricular cardiomyopathy
  • Dilated cardiomyopathy
Tags
Red Red List (low evidence)
RANGRF
4 reviews
2 red
Unknown
Sources
  • Expert list
  • Expert Review Red
  • London South GLH
  • South West GLH
Phenotypes
  • Brugada/Brugada like syndrome
Tags
Red Red List (low evidence)
SCN10A
5 reviews
1 green 3 red
Unknown
Sources
  • Expert Review Red
  • London South GLH
  • North West GLH
  • Oxford Medical Genetics Laboratory
  • South West GLH
Phenotypes
  • Episodic pain syndrome, familial, 2 (615551)
Tags
Red Red List (low evidence)
SCN1B
5 reviews
1 green 3 red
BIALLELIC, autosomal or pseudoautosomal
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
  • Cardiac conduction defect, nonspecific (612838)
  • Atrial fibrillation, familial, 13 (615377)
  • Brugada syndrome 5
  • Brugada syndrome 5 (612838)
  • Epileptic encephalopathy, early infantile, 52 (617350)
  • Epilepsy, generalized, with febrile seizures plus, type 1 (604233)
Tags
Red Red List (low evidence)
SCN2B
4 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Oxford Medical Genetics Laboratory
  • South West GLH
Tags
Red Red List (low evidence)
SCN3B
5 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
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Brugada syndrome 7
  • Atrial fibrillation, familial, 16 (613120)
  • Brugada syndrome 7 (613120)
Tags
Red Red List (low evidence)
SLMAP
4 reviews
3 red
Unknown
Sources
  • Expert list
  • Expert Review Red
  • South West GLH
Phenotypes
  • Brugada/Brugada like syndrome
Tags
Red Red List (low evidence)
TRPM4
6 reviews
1 green 3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • North West GLH
  • Oxford Medical Genetics Laboratory
  • South West GLH
Phenotypes
  • Progressive familial heart block, type IB 604559
  • Progressive familial heart block, type IB (604559)
Tags

Major version comments

Downloads

Download lists

Download Version