Catecholaminergic polymorphic VT

Gene: ANK2

Red List (low evidence)

ANK2 (ankyrin 2)
EnsemblGeneIds (GRCh38): ENSG00000145362
EnsemblGeneIds (GRCh37): ENSG00000145362
OMIM: 106410, Gene2Phenotype
ANK2 is in 10 panels

3 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

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)

I don't know

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • catecholaminergic polymorphic ventricular tachycardia
OMIM
106410
Clinvar variants
Variants in ANK2
Penetrance
Complete
Panels with this gene

History Filter Activity

21 Feb 2019, Gel status: 1

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

22 Jul 2016, Gel status: 1

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.

18 Jul 2016, Gel status: 1

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

13 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ANK2 was added to Catecholaminergic Polymorphic Ventricular Tachycardiapanel. Sources: Expert list