Cardiomyopathy_Paediatric
Gene: ANK2EnsemblGeneIds (GRCh38): ENSG00000145362
EnsemblGeneIds (GRCh37): ENSG00000145362
OMIM: 106410, Gene2Phenotype
ANK2 is in 11 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
Comment on phenotypes: Association is disputed, gene associated to a neurodevelopmental disorderCreated: 20 Mar 2024, 10:40 p.m. | Last Modified: 20 Mar 2024, 10:40 p.m.
Panel Version: 0.184
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- NHS GMS
- Phenotypes
-
- Cardiac arrhythmia, ankyrin-B-related MIM#600919
- Long QT syndrome 4 MIM#600919
- OMIM
- 106410
- Clinvar variants
- Variants in ANK2
- Penetrance
- None
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: ank2 has been classified as Red List (Low Evidence).
Set Phenotypes
Elena Savva (Victorian Clinical Genetics Services)Phenotypes for gene: ANK2 were changed from to Cardiac arrhythmia, ankyrin-B-related MIM#600919; Long QT syndrome 4 MIM#600919
Entity classified by Genomics England curator
Elena Savva (Victorian Clinical Genetics Services)Gene: ank2 has been classified as Red List (Low Evidence).
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: ANK2 was added gene: ANK2 was added to Cardiomyopathy_Paediatric. Sources: NHS GMS,Expert Review Amber Mode of inheritance for gene: ANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown