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 'R130 Short QT syndrome' 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 'R130 Short QT syndrome'. A version of this panel has been signed off under NHS Genomic Medicine Service governance (see "Latest signed off version" in the panel header information). 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 signed off 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 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 This panel was originally created with a Short QT gene list provided by Jules Hancox (University of Bristol) and with genes from the Long QT syndrome (Version 1.5) PanelApp panel and from the Brugada syndrome (Version 1.7) PanelApp panel. The ratings for all of the genes from the originating PanelApp panels were changed to red, so that they could be reviewed with respect to Short QT. The source of these genes was given as the panels from which the genes originated (ie: Long QT syndrome (Version 1.5) and from the Brugada syndrome (Version 1.7). Publications were removed as these related to Long QT and Brugada sydromes. This panel is also a constituent panel of super panels 'Sudden cardiac death' and 'Cardiac arrhythmias'. Changes made to this panel will automatically be updated in the relevant super panel(s).
Ellen McDonagh (Genomics England Curator)
Group: Other
Workplace: Other
Juan Pablo Kaski (Great Ormond Street Hospital/UCL)
Group: GeCIP domain
Workplace: NHS clinical service
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Group: NHS Genomic Medicine Centre
Workplace: NHS diagnostic lab
Olivia Niblock (Genomics England Curator)
Group: Other
Workplace: Other
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
Zornitza Stark (Australian Genomics)
Group: Other
Workplace: Other 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
List | Entity | Reviews | Mode of inheritance | Details | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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Green List (high evidence) |
CACNA1C |
9 reviews4 green 2 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Green List (high evidence) |
KCNH2 |
7 reviews5 green 1 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
KCNJ2 |
7 reviews4 green 2 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Green List (high evidence) |
KCNQ1 |
9 reviews5 green |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Amber List (moderate evidence) |
CACNA2D1 |
7 reviews1 green 1 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Amber List (moderate evidence) |
CACNB2 |
7 reviews1 green 1 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Amber List (moderate evidence) |
SCN5A |
5 reviews1 green 2 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Amber List (moderate evidence) |
SLC4A3 |
6 reviews1 green 1 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
ABCC9 |
3 reviews3 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
AKAP9 |
2 reviews2 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
ALG10B |
1 review1 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
ANK2 |
2 reviews2 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
CALM1 |
2 reviews2 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
CALM2 |
1 review1 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Tags |
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Red List (low evidence) |
CALM3 |
1 review1 red |
Not set |
Sources
Tags |
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Red List (low evidence) |
CAV3 |
1 review1 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Tags |
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Red List (low evidence) |
DLG1 |
1 review1 red |
Not set |
Sources
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red List (low evidence) |
GPD1L |
2 reviews2 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
HCN4 |
2 reviews2 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
KCND3 |
1 review1 red |
Not set |
Sources
Tags |
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Red List (low evidence) |
KCNE1 |
2 reviews1 green 1 red |
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
KCNE2 |
2 reviews1 green 1 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red List (low evidence) |
KCNE3 |
2 reviews1 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red List (low evidence) |
KCNE5 |
1 review1 red |
Not set |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red List (low evidence) |
KCNJ5 |
2 reviews2 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red List (low evidence) |
KCNJ8 |
2 reviews2 red |
Unknown |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
LRP5 |
1 review1 red |
Unknown |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red List (low evidence) |
NOS1AP |
1 review1 red |
Not set |
Sources
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red List (low evidence) |
PKP2 |
2 reviews2 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red List (low evidence) |
RANGRF |
1 review1 red |
Not set |
Sources
Tags |
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Red List (low evidence) |
RYR2 |
1 review1 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
SCN10A |
2 reviews2 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Red List (low evidence) |
SCN1B |
1 review1 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
SCN2B |
0 reviews |
Not set |
Sources
Tags |
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Red List (low evidence) |
SCN3B |
1 review1 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Tags |
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Red List (low evidence) |
SCN4B |
1 review1 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Tags |
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Red List (low evidence) |
SLC22A5 |
8 reviews2 green 3 red |
BIALLELIC, autosomal or pseudoautosomal |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
SLMAP |
0 reviews |
Not set |
Sources
Tags |
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Red List (low evidence) |
SNTA1 |
1 review1 red |
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted |
Sources
Phenotypes
Tags |
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Red List (low evidence) |
TRPM4 |
1 review1 red |
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown |
Sources
Phenotypes
Tags |
2022-11-30 14:29 Catherine Snow (Genomics England) promoted panel to 3.0
There have been no changes to green entities on this panel but it is being promoted to the next major version because it is a component of a super panel that is to be re-signed off for the NHS Genomic Medicine Service. The panel was promoted to the next major version (3.0)
2019-12-09 14:30 Ivone Leong (Genomics England Curator) promoted panel to 2.0
The content of this panel (version 1.26) was signed off under NHS Genomic Medicine Service governance on (09/12/2019). The panel was promoted to the next major version (version 2.0) as a result of this.
2018-11-20 12:23 Sarah Leigh (Genomics England Curator) promoted panel to 1.0
This version of the Short QT panel has been formed from the expert list provided by Jules Hancox (University of Bristol), together with re-evaluation with respect to Short QT, of the genes from the Long QT syndromes panel (Version 1.5)(https://panelapp.genomicsengland.co.uk/panels/76/) and from the Brugada syndrome panel (Version 1.7)(https://panelapp.genomicsengland.co.uk/panels/13/).