Description
This panel was developed and is maintained by VCGS.

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 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 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 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 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 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 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 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 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 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

Downloads

Download lists

Download Version