Incidentalome
Gene: ANK2

ANK2 (ankyrin 2)
EnsemblGeneIds (GRCh38): ENSG00000145362
EnsemblGeneIds (GRCh37): ENSG00000145362
OMIM: 106410, Gene2Phenotype
ANK2 is in 11 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Association with Long QT is DISPUTED. Association with ID/autism is DEFINITIVE so gene moved to Mendeliome.
Created: 2 Aug 2021, 2:09 a.m. | Last Modified: 2 Aug 2021, 2:09 a.m.

Panel Version: 0.71

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Long QT syndrome 4, MIM# 600919

Publications

31983240

Created: 2 Aug 2021, 2:09 a.m.
Last Modified: 2 Aug 2021, 2:09 a.m.
Panel version: 0.71

Ivan Macciocca (Victorian Clinical Genetics Services)

disputed as reported in Circulation. 2020 Feb 11;141(6):418-428 PMID: 31983240, by the International, Multicentered LQTS ClinGen Working Group
Created: 31 May 2020, 1:11 p.m. | Last Modified: 31 May 2020, 1:11 p.m.

Panel Version: 0.7

Publications

PMID: 31983240

Created: 31 May 2020, 1:11 p.m.
Last Modified: 31 May 2020, 1:11 p.m.
Panel version: Imported from Long QT Syndrome panel version 0.7

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Victorian Clinical Genetics Services

Phenotypes

Long QT syndrome 4, MIM# 600919

Tags

cardiac

OMIM

106410

Clinvar variants

Variants in ANK2

Penetrance

None

Publications

31983240

Panels with this gene