Description
This panel is used as a virtual panel to analyse genome or exome data in the NHS Genomic Medicine Service. The panel will routinely be applied for clinical indication 'R328 Progressive cardiac conduction disease' but can also be used as part of the analysis for a broader clinical presentation, where relevant.

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 'R328 Progressive cardiac conduction disease'.

The content of this panel (version 1.2: https://panelapp.genomicsengland.co.uk/api/v1/panels/506/?version=1.2) was signed off under NHS Genomic Medicine Service governance on (02/03/2020).

This panel will continue to be curated based on external reviews and Genomics England curation. New changes will be reflected in an increase to the minor version of the panel and details of these can be viewed in the 'Panel Activity' page. Periodically, these changes will be reviewed by a NHS Genomic Medicine Service evaluation process.  The content that is agreed for the GMS panels will be reflected in an updated version number.

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 is also a constituent panel of the super panel 'Sudden cardiac death'. Changes made to this panel will automatically be updated in the relevant super panel(s).

9 reviewers

  • Ellen McDonagh (Genomics England Curator)

    Group: other
    Workplace: other

  • Kate Thomson (Oxford University Hospitals Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic lab

  • Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS diagnostic 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

  • Anna de Burca (Genomics England Curator)

    Group: NHS Genomic Medicine Centre
    Workplace: NHS clinical service

  • 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

21 Entities

21 reviewed, 11 green

List Entity Reviews Mode of inheritance Details
21 Entitiess
Green Green List (high evidence)
DES
5 reviews
3 green
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
  • South West GLH
Phenotypes
  • Desminopathy-associated AV conduction block
Tags
Green Green List (high evidence)
EMD
4 reviews
2 green
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Emery-Dreifuss muscular dystrophy 1, X-linked 310300
Tags
Green Green List (high evidence)
GLA
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Fabry disease, cardiac variant, 301500
Tags
Green Green List (high evidence)
HCN4
4 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • South West GLH
Phenotypes
  • Brugada syndrome 8 613123
  • Sick sinus syndrome 2 163800
Tags
Green Green List (high evidence)
LAMP2
2 reviews
1 green
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • Expert Review Green
  • NHS GMS
Phenotypes
  • Danon disease, 300257
Tags
Green Green List (high evidence)
LMNA
6 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Laminopathy-associated AV conduction block
Tags
Green Green List (high evidence)
NKX2-5
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • London South GLH
  • South West GLH
Phenotypes
  • Atrial septal defect 7, with or without AV conduction defects 108900
Tags
Green Green List (high evidence)
PRKAG2
5 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • London South GLH
Phenotypes
  • Familial Wolff-Parkinson-White (WPW) syndrome, pre-excitation and conduction defects
Tags
Green Green List (high evidence)
SCN5A
7 reviews
5 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
  • London South GLH
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • BUNDLE BRANCH BLOCK
  • HEART BLOCK, PROGRESSIVE
  • Lenegre-Lev disease
  • Heart block, progressive, type IA
  • CARDIAC CONDUCTION DEFECT, PROGRESSIVE
  • PROGRESSIVE FAMILIAL HEART BLOCK (113900)
Tags
Green Green List (high evidence)
TNNI3K
4 reviews
4 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Cardiac conduction disease with or without dilated cardiomyopathy 616117
Tags
Green Green List (high evidence)
TTR
2 reviews
1 green
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
CLCA2
1 review
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • NHS GMS
Tags
Amber Amber List (moderate evidence)
SCN1B
5 reviews
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London South GLH
  • South West GLH
Phenotypes
  • Cardiac conduction defect, nonspecific 612838
Tags
Amber Amber List (moderate evidence)
TBX5
5 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London South GLH
  • South West GLH
Phenotypes
  • Holt-Oram syndrome 142900
Tags
Amber Amber List (moderate evidence)
TRPM4
6 reviews
3 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • London South GLH
  • South West GLH
  • Wessex and West Midlands GLH
Phenotypes
  • Progressive familial heart block, type IB 604559
Tags
Red Red List (low evidence)
ACTN2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
ANK2
3 reviews
3 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
Tags
Red Red List (low evidence)
FLNC
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • NHS GMS
Tags
Red Red List (low evidence)
GJA5
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • South West GLH
Tags
Red Red List (low evidence)
KCNK17
3 reviews
2 red
Unknown
Sources
  • South West GLH
Tags
Red Red List (low evidence)
TBX3
3 reviews
2 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • South West GLH
Tags

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