Brugada syndrome and cardiac sodium channel disease
Gene: ANK2Comment 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
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
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
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
Comment when marking as ready: Not linked to Brugada in clinvar or OMIMCreated: 11 Feb 2016, 11:29 a.m.
Phenotypes for gene: ANK2 were changed from Brugada/Brugada like syndrome to Brugada syndrome, MONDO:0015263
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
Source South West GLH was added to ANK2.
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
This gene has been classified as Red List (Low Evidence).
ANK2 was added to Brugada syndromepanel. Sources: Expert list