Short QT syndrome

Gene: ANK2

Red List (low evidence)

ANK2 (ankyrin 2)
EnsemblGeneIds (GRCh38): ENSG00000145362
EnsemblGeneIds (GRCh37): ENSG00000145362
OMIM: 106410, Gene2Phenotype
ANK2 is in 11 panels

2 reviews

James Eden (Manchester)

Red List (low evidence)

Gene currently tested by alternative panel, very few short QT referrals to date. Only class 1-3 variants detected in this gene. 75 variants listed on HGMD (accessed 29/01/2019). ClinGen Knowledge Base: disputed association with Brugada syndrome 1 (accessed 29/01/2019).
Created: 14 Feb 2019, 1:38 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Cardiac arrhythmia, ankyrin-B-related (600919); Long QT syndrome 4 (600919)

Publications

Variants in this GENE are reported as part of current diagnostic practice

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Not associated with Short QT phenotype in OMIM or in Gen2Phen. Listed on Emory Genetics Laboratory's Long and Short QT SyndromesSequencing Panel
Created: 15 Nov 2018, 12:10 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • North West GLH
  • Brugada syndrome (Version 1.7)
  • Long QT syndrome (Version 1.5)
  • Emory Genetics Laboratory
Phenotypes
  • Long QT syndrome 4 (600919)
  • Long QT syndrome 4 600919
  • Cardiac arrhythmia, ankyrin-B-related (600919)
  • Cardiac arrhythmia, ankyrin-B-related 600919
OMIM
106410
Clinvar variants
Variants in ANK2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

14 Feb 2019, Gel status: 1

Added New Source, Set Phenotypes, Set publications

Ellen McDonagh (Genomics England Curator)

Source North West GLH was added to ANK2. Added phenotypes Cardiac arrhythmia, ankyrin-B-related (600919); Long QT syndrome 4 (600919) for gene: ANK2 Publications for gene ANK2 were changed from to 30420954; 19862833; 16301704

20 Nov 2018, Gel status: 1

Panel promoted to version 1.0

Sarah Leigh (Genomics England Curator)

Sarah Leigh: Not associated with Short QT p

15 Nov 2018, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: ANK2 was added gene: ANK2 was added to Short QT syndrome. Sources: Emory Genetics Laboratory,Long QT syndrome (Version 1.5),Brugada syndrome (Version 1.7) Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ANK2 were set to Cardiac arrhythmia, ankyrin-B-related 600919; Long QT syndrome 4 600919