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  2. Long QT Syndrome

Long QT Syndrome (Version 0.61)

Level 2: Cardiovascular disorders

Relevant disorders: Prolonged QT interval, HP:0001657
Panel types: Victorian Clinical Genetics Services, Rare Disease
Description
This panel was developed and is maintained by VCGS. It has been compared against the ClinGen Long QT working group and the Genomics England PanelApp Long QT panel gene-disease associations, with all differences reconciled, with thanks to Ivan Macciocca.
Panel Activity

5 reviewers

  • Ivan Macciocca (Victorian Clinical Genetics Services)

  • Michelle Torres (Victorian Clinical Genetics Services)

  • Crystle Lee (Victorian Clinical Genetics Services)

  • Daniel Flanagan (Victorian Clinical Genetics Services)

  • Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

17 Entities

17 reviewed, 9 green

List Entity Reviews Mode of inheritance Details
17 Entitiess
Green List (high evidence)
CACNA1C
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Long QT syndrome 8, MIM# 618447
  • Timothy syndrome, MIM# 601005
Tags
Green List (high evidence)
CALM1
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Long QT syndrome 14, MIM# 616247
Tags
Green List (high evidence)
CALM2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Long QT syndrome 15, MIM# 616249
Tags
Green List (high evidence)
CALM3
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Long QT syndrome 16, MIM# 618782
Tags
Green List (high evidence)
KCNH2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • long QT syndrome
Tags
Green List (high evidence)
KCNJ2
1 review
1 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • long QT syndrome
  • Andersen-Tawil syndrome
Tags
Green List (high evidence)
KCNQ1
3 reviews
3 green 		BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Atrial fibrillation, familial, 3 607554
  • Jervell and Lange-Nielsen syndrome 220400
  • Long QT syndrome 1, 192500
  • Short QT syndrome 2 609621
Tags
Green List (high evidence)
SCN5A
2 reviews
2 green 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Long QT syndrome 3 (MIM#603830)
Tags
Green List (high evidence)
TRDN
1 review
1 green 		BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert list
  • Expert Review Green
Phenotypes
  • Long QT syndrome
  • Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441
Tags
Amber List (moderate evidence)
CAV3
3 reviews
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Long QT syndrome 9, MIM# 611818
Tags
Amber List (moderate evidence)
KCNE1
2 reviews
 BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Jervell and Lange-Nielsen syndrome 2, MIM# 612347
  • Long QT syndrome 5, MIM# 613695
  • Acquired LQTS
Tags
Amber List (moderate evidence)
KCNE2
1 review
 MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • Long QT syndrome
Tags
Red List (low evidence)
AKAP9
1 review
1 red 		Unknown
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • long QT syndrome
Tags
  • disputed
Red List (low evidence)
ANK2
2 reviews
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Long QT syndrome 4, MIM# 600919
Tags
  • disputed
Red List (low evidence)
KCNJ5
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Long QT syndrome 13, MIM# 613485
Tags
  • disputed
Red List (low evidence)
SCN4B
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Long QT syndrome 10, MIM# 611819
Tags
  • disputed
Red List (low evidence)
SNTA1
1 review
1 red 		MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Long QT syndrome 12, MIM# 612955
Tags
  • disputed

Downloads

Download lists

  • Whole panel
  • Green list (high evidence)
  • Green and Amber Genes
  • Amber Genes
  • Red list (low evidence)

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