Brugada syndrome and cardiac sodium channel disease
Gene: ANK2EnsemblGeneIds (GRCh38): ENSG00000145362
EnsemblGeneIds (GRCh37): ENSG00000145362
OMIM: 106410, Gene2Phenotype
ANK2 is in 12 panels
6 reviews
Ivone Leong (Genomics England Curator)
Comment on phenotypes: This gene is also associated with Long QT syndrome 4 (600919), Cardiac arrhythmia, ankyrin-B-related (600919)Created: 2 Mar 2021, 11:45 a.m. | Last Modified: 2 Mar 2021, 11:45 a.m.
Panel Version: 2.9
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 strong evidence for Brugada. Phenotype does not seem to be clear in paper. Possible modifier gene. PMID:15178757. https://www.ncbi.nlm.nih.gov/pubmed/17242276?dopt=AbstractCreated: 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)
This gene was given a validity classification of Disputed by the ClinGen validity curation group and is reflected by providing a Red review here.The gene-disease summary was downloaded on 20th Feb 2019.For the full report and publications see the ClinGen Gene Validity Curation for each gene here: https://search.clinicalgenome.org/kb/gene-validity/10145Created: 20 Feb 2019, 2:47 p.m.
Mode of inheritance
Disputed
Phenotypes
Brugada syndrome; MONDO_0015263
James Eden (Manchester)
Gene currently tested on Manchester cardiac gene panel. Only class 1-3 variants detected to date. 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
Long QT syndrome 4 (600919); Cardiac arrhythmia, ankyrin-B-related (600919)
Publications
Variants in this GENE are reported as part of current diagnostic practice
Caroline Wright (Genomics England Curator)
Comment when marking as ready: Not linked to Brugada in clinvar or OMIMCreated: 11 Feb 2016, 11:29 a.m.
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- North West GLH
- Expert Review Red
- Expert list
- Phenotypes
-
- Brugada syndrome, MONDO:0015263
- Tags
- OMIM
- 106410
- Clinvar variants
- Variants in ANK2
- Penetrance
- Complete
- 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 Tag
Arina Puzriakova (Genomics England Curator)Tag disputed tag was added to gene: ANK2.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ANK2 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: ANK2 were changed from Long QT syndrome 4 (600919); Cardiac arrhythmia, ankyrin-B-related (600919); Brugada/Brugada like syndrome to Brugada/Brugada like syndrome
Added New Source
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to ANK2.
Added New Source, Set mode of inheritance, Set Phenotypes, Set publications
Ellen McDonagh (Genomics England Curator)Source North West GLH was added to ANK2. Mode of inheritance for gene ANK2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Cardiac arrhythmia, ankyrin-B-related (600919); Long QT syndrome 4 (600919) for gene: ANK2 Publications for gene ANK2 were changed from to 27761167; 27818464
Gene classified by Genomics England curator
Caroline Wright (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 Brugada syndromepanel. Sources: Expert list