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Short QT syndrome (Version 1.7)

Level 2: Cardiovascular disorders

Relevant disorders: Shortened QT interval, HP:0012232
Panel types: Victorian Clinical Genetics Services
Description
This panel was developed and is maintained by VCGS.
Panel Activity

3 reviewers

  • Chern Lim (Victorian Clinical Genetics Services)

  • Daniel Flanagan (Victorian Clinical Genetics Services)

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

9 Entities

9 reviewed, 4 green

List Entity Reviews Mode of inheritance Details
9 Entitiess
Green List (high evidence)
KCNH2
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short 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
  • Short QT syndrome
Tags
Green List (high evidence)
KCNQ1
1 review
1 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Short QT syndrome 1
  • bradycardia
  • atrial fibrillation
Tags
Green List (high evidence)
SLC4A3
3 reviews
2 green
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Green
Phenotypes
  • Short QT syndrome 7, MIM#620231
Tags
Red List (low evidence)
CACNA1C
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Short QT syndrome
Tags
  • disputed
Red List (low evidence)
CACNA2D1
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Short QT syndrome
Tags
  • disputed
Red List (low evidence)
CACNB2
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Short QT syndrome 1
Tags
  • disputed
Red List (low evidence)
SCN5A
1 review
1 red
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Short QT syndrome
Tags
  • disputed
Red List (low evidence)
SLC22A5
1 review
1 red
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
  • Expert Review Red
Phenotypes
  • Short QT syndrome
Tags
  • disputed

Major version comments

  • 2021-10-11 06:14 Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics) promoted panel to 1.0
    Fully reviewed and promoted to V1.

Downloads

Download lists

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

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