Catecholaminergic polymorphic VT
Gene: ANK2EnsemblGeneIds (GRCh38): ENSG00000145362
EnsemblGeneIds (GRCh37): ENSG00000145362
OMIM: 106410, Gene2Phenotype
ANK2 is in 12 panels
3 reviews
Rebecca Whittington (South West GLH)
Cardiac arrhythmia, ankyrin-B-related (OMIM 600919), Long QT syndrome 4 (OMIM 600919)Created: 25 Mar 2019, 4:30 p.m.
No evidence for this gene assoc with CPVT. PMID:27761157.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment when marking as ready: This gene should remain red, as the expert reviewer is unsure and no clear evidence for association with CPVT found in OMIM or a publication search.Created: 18 Jul 2016, 3:17 p.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- Expert Review Red
- Expert list
- Phenotypes
-
- catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
- OMIM
- 106410
- Clinvar variants
- Variants in ANK2
- Penetrance
- Complete
- 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
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ANK2 were changed from catecholaminergic polymorphic ventricular tachycardia to catecholaminergic polymorphic ventricular tachycardia, MONDO:0017990
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to ANK2. Mode of inheritance for gene ANK2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)22.07.2016: Panel revised according to reviews and further evidence. Confirmed the final panel with Karen McGuire at the Oxford Medical Genetics Laboratory prior to promoting to version 1.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)ANK2 was added to Catecholaminergic Polymorphic Ventricular Tachycardiapanel. Sources: Expert list