Description
This panel is used for clinical indication 'R133 Arrythmogenic right ventricular cardiomyopathy' 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 'R133 Arrythmogenic right ventricular cardiomyopathy'.

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

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • James Eden (Manchester)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

18 Entities

17 reviewed, 9 green

List Entity Reviews Mode of inheritance Details
18 Entitiess
Green Green List (high evidence)
DES
4 reviews
1 green 1 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert list
  • London South GLH
  • South West GLH
  • UKGTN
Tags
Green Green List (high evidence)
DSC2
4 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 11
  • Arrhythmogenic right ventricular dysplasia 11 (610476)
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair
  • Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair (610476)
Tags
Green Green List (high evidence)
DSG2
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Cardiomyopathy, dilated, 1BB (612877)
  • Arrhythmogenic right ventricular dysplasia 10
  • Arrhythmogenic right ventricular dysplasia 10 (610193)
Tags
Green Green List (high evidence)
DSP
5 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Keratosis palmoplantaris striata II (612908)
  • Skin fragility-woolly hair syndrome (607655)
  • Arrhythmogenic right ventricular dysplasia 8 (607450)
  • Epidermolysis bullosa, lethal acantholytic (609638)
  • Arrhythmogenic right ventricular dysplasia 8
  • Cardiomyopathy, dilated, with woolly hair and keratoderma (605676)
  • Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis (615821)
Tags
Green Green List (high evidence)
JUP
4 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 12
  • Arrhythmogenic right ventricular dysplasia 12 (611528)
  • Naxos disease (601214)
Tags
Green Green List (high evidence)
PKP2
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Eligibility statement prior genetic testing
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 9 (609040)
  • Arrhythmogenic right ventricular cardiomyopathy
  • Arrhythmogenic right ventricular dysplasia 9
Tags
Green Green List (high evidence)
RYR2
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 2
Tags
  • deletions
Green Green List (high evidence)
TMEM43
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Emory Genetics Laboratory
  • Expert Review Green
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • North West GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
  • UKGTN
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 5 (604400)
  • Arrhythmogenic right ventricular dysplasia 5
  • Emery-Dreifuss muscular dystrophy 7, AD (614302)
Tags
Green Green List (high evidence)
PLN
4 reviews
1 green 1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert list
  • London South GLH
  • South West GLH
  • Wessex and West Midlands GLH
Tags
  • founder-effect
Amber Amber List (moderate evidence)
FLNC
2 reviews
1 green
Not set
Sources
  • Expert Review Amber
  • Wessex and West Midlands GLH
Tags
Red Red List (low evidence)
CAVIN4
0 reviews
Unknown
Sources
  • South West GLH
Tags
Red Red List (low evidence)
CTNNA3
2 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia, familial, 13,
Tags
Red Red List (low evidence)
LDB3
2 reviews
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
  • South West GLH
Tags
Red Red List (low evidence)
LMNA
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
  • London South GLH
  • South West GLH
  • UKGTN
Tags
Red Red List (low evidence)
RBM20
1 review
Not set
Sources
  • London South GLH
Tags
Red Red List (low evidence)
SCN5A
1 review
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Literature
  • London South GLH
  • South West GLH
Phenotypes
  • Arrhythmogenic right ventricular cardiomyopathy
  • Long QT syndrome
  • Brugada syndrome
  • Dilated cardiomyopathy
  • Arrhythmogenic right ventricular cardiomyopathy
Tags
Red Red List (low evidence)
TGFB3
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • South West GLH
Phenotypes
  • Arrhythmogenic right ventricular dysplasia 1
Tags
Red Red List (low evidence)
TTN
4 reviews
2 red
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
  • London South GLH
  • South West GLH
Tags

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