Gene Symbol:
ACTN2
HGNC:164
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
1q43
Filters:

Ambry Genetics classifications

dilated cardiomyopathy 1AA
Submitted as: OMIM:612158
AD
03/29/2018
Evaluated
12/24/2020
Submitted
myopathy, congenital, with structured cores and z-line abnormalities
Submitted as: OMIM:618654
AD
11/04/2020
Evaluated
12/24/2020
Submitted

ClinGen classifications

intrinsic cardiomyopathy
AD
05/10/2023
Evaluated
04/21/2024
Submitted

Genomics England PanelApp classifications

heart conduction disease
AD
08/20/2020
Evaluated
03/31/2021
Submitted

Invitae classifications

dilated cardiomyopathy 1AA
Submitted as: OMIM:612158
AD
09/07/2022
Evaluated
11/30/2023
Submitted
myopathy, distal, 6, adult-onset, autosomal dominant
Submitted as: OMIM:618655
Unknown
04/19/2022
Evaluated
11/30/2023
Submitted
myopathy, congenital, with structured cores and z-line abnormalities
Submitted as: OMIM:618654
AD
11/15/2019
Evaluated
11/30/2023
Submitted

Laboratory for Molecular Medicine classifications

intrinsic cardiomyopathy
AD
03/24/2020
Evaluated
04/01/2021
Submitted
Laboratory for Molecular Medicine
Evidence: This gene-disease relationship has undergone rapid assessment. Classifications are based on prelimin... Read more

Orphanet classifications

familial isolated dilated cardiomyopathy
Submitted as: Orphanet:154
AD
09/14/2021
Evaluated
09/14/2021
Submitted

PanelApp Australia classifications

dilated cardiomyopathy 1AA
Submitted as: OMIM:612158
AD
08/06/2020
Evaluated
11/06/2020
Submitted

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