Short QT syndrome
Gene: ANK2EnsemblGeneIds (GRCh38): ENSG00000145362
EnsemblGeneIds (GRCh37): ENSG00000145362
OMIM: 106410, Gene2Phenotype
ANK2 is in 12 panels
2 reviews
James Eden (Manchester)
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)
Not associated with Short QT phenotype in OMIM or in Gen2Phen. Listed on Emory Genetics Laboratory's Long and Short QT SyndromesSequencing PanelCreated: 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
-
- Dilated and arrhythmogenic cardiomyopathy
- Short QT syndrome
- Progressive cardiac conduction disease
- Catecholaminergic polymorphic VT
- DDG2P
- Paediatric or syndromic cardiomyopathy
- Long QT syndrome
- Early onset or syndromic epilepsy
- Brugada syndrome and cardiac sodium channel disease
- Cardiac arrhythmias - additional genes
- Arrhythmogenic right ventricular cardiomyopathy
- Intellectual disability
History Filter Activity
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
Panel promoted to version 1.0
Sarah Leigh (Genomics England Curator)Sarah Leigh: Not associated with Short QT p
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