ACTN2 gene related symptoms and diseases

All the information presented here about the ACTN2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: NCBIGENE,ORPHANET,HGNC,OMIM, Mendelian Rare Disease Search Engine.

Table of contents:

Main symptoms and clinical features
Other symptoms and clinical features
Related Diseases
Current trends
Suitable testing panels

Top 5 symptoms and clinical features associated to ACTN2 gene

Symptoms // Phenotype	% Cases
Cardiomyopathy	Very Common - Between 80% and 100% cases
Dyspnea	Very Common - Between 80% and 100% cases
Ventricular arrhythmia	Very Common - Between 80% and 100% cases
Dilated cardiomyopathy	Very Common - Between 80% and 100% cases
Syncope	Very Common - Between 80% and 100% cases

Other less frequent symptoms and clinical features

Patients with ACTN2 gene alterations may also develop some of the following symptoms and phenotypes:

Commonly - More than 50% cases
Arrhythmia
Dilatation
Congestive heart failure
Not very common - Between 30% and 50% cases
Left ventricular noncompaction cardiomyopathy
Cardiomyocyte hypertrophy
Myofiber disarray
Cough
Sensorineural hearing impairment

And 49 more phenotypes, you can get all of them using our tools for rare diseases.

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Rare diseases associated to ACTN2 gene

Here you will find a list of rare diseases related to the ACTN2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.

CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; CMD1AA

Most common symptoms of CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; CMD1AA

Cardiomyopathy
Atrial septal defect
Congestive heart failure
Dilatation
Arrhythmia

More info about CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; CMD1AA

SOURCES: MESH OMIM

FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

Alternate names

FAMILIAL ISOLATED DILATED CARDIOMYOPATHY Is also known as cardiomyopathy, familial dilated, cardiomyopathy, familial dilated, 1, cmpd1, familial or idiopathic dilated cardiomyopathy, fdc

Description

Familial isolated dilated cardiomyopathy is a rare, genetically heterogeneous cardiac disease characterized by dilatation leading to systolic and diastolic dysfunction of the left and/or right ventricles, causing heart failure or arrhythmia.

Most common symptoms of FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

Sensorineural hearing impairment
Feeding difficulties
Fatigue
Ventriculomegaly
Cardiomyopathy

More info about FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

SOURCES: OMIM ORPHANET

Search interest in ACTN2

Potential gene panels for ACTN2 gene

Comprehensive Cardiac Panel Panel

United States.

By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Comprehensive Cardiac Panel that also includes the following genes: RIT1 RYR2 SCN1B SCN2B SCN4B SCN5A SGCD SLC22A5 BRAF SNTA1

ACTN2 gene related symptoms and diseases

Top 5 symptoms and clinical features associated to ACTN2 gene

Other less frequent symptoms and clinical features

Commonly - More than 50% cases

Not very common - Between 30% and 50% cases

Accelerate your rare disease diagnosis with us

Rare diseases associated to ACTN2 gene

CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; CMD1AA

Most common symptoms of CARDIOMYOPATHY, DILATED, 1AA, WITH OR WITHOUT LEFT VENTRICULAR NONCOMPACTION; CMD1AA

FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

Alternate names

Description

Most common symptoms of FAMILIAL ISOLATED DILATED CARDIOMYOPATHY

Search interest in ACTN2

Potential gene panels for ACTN2 gene

Comprehensive Cardiac Panel Panel

Dilated & Arrhythmogenic Cardiomyopathies Panel Panel

Hypertrophic Cardiomyopathy Panel Panel

Hypertrophic cardiomyopathy - full panel Panel

Dilated cardiomyopathy - full panel Panel

Dilated cardiomyopathy - familial variant analysis Panel

Hypertrophic cardiomyopathy - familial variant analysis Panel

Pan-cardiomyopathy panel Panel

Cardiomyopathy Panel Panel

Dilated Cardiomyopathy Panel Panel

Hypertrophic Cardiomyopathy Panel Panel

Non-Compaction Arrhythmogenic Left Ventricular Cardiomyopathy Panel

Left Ventricular Noncompaction (13 genes) Panel

Dilated Cardiomyopathy Panel (30 genes) Panel

Hypertrophic Cardiomyopathy Panel (23 genes) Panel

Comprehensive Cardiomyopathy Panel (37 genes) Panel

DCM and DMD related Cardiomyopathy Panel

DCM/Arrhythmogenic Cardiomyopathy Panel (53 Genes) Panel

HCM Panel (20 Genes) Panel

Pan Cardiomyopathy Panel (62 Genes) Panel

Cardiomyopathy and Arrhythmia Panel, Sequencing and Deletion/Duplication Panel

Comprehensive Cardiomyopathy Panel Panel

DCM/LVNC Sequencing Panel Panel

CardioNext with TTN Panel

CMNext with TTN Panel

CustomNext: Cardio Panel

DCMNext with TTN Panel

HCMNext Panel

HCMFirst reflex HCMNext Panel

Cardiomyopathy NGS Multi-Gene Panel (50 genes), Sequence & CNV analysis Panel

Dilated cardiomyopathy (CMD, NGS panel for 22 genes) Panel

Cardiomyopathy, dilated 1AA (sequence analysis of ACTN2 gene) Panel

Cardiomyopathy and changes in cardiac conduction (NGS panel for 59 genes) Panel

Cardiomyopathy (hypertrophic, dilated and arrhythmogenic right ventricular dysplasia, NGS panel for 36 genes) Panel

Comprehensive Cardiology Sequencing Panel with CNV Detection Panel

Sudden Cardiac Arrest Sequencing Panel with CNV Detection Panel

Dilated Cardiomyopathy Sequencing Panel with CNV Detection Panel

Pan Cardiomyopathy Sequencing Panel with CNV Detection Panel

Hypertrophic Cardiomyopathy and Dilated Cardiomyopathy via ACTN2 Gene Sequencing with CNV Detection Panel

Hypertrophic Cardiomyopathy Sequencing Panel with CNV Detection Panel

Heart Diseases - panels Panel

Cardiomyopathy panel Panel

Cardiomyopathy, dilated, 1AA Panel

Cardiomyopathy, hypertrophic Panel Panel

Hypertrophic Cardiomyopathy Panel

Dilated Cardiomyopathy Panel

Left Ventricular Non-Compactation Panel Panel

Restrictive Cardiomyopathy Panel Panel

Inherited Cardiovascular Diseases and Sudden Death Panel Panel

Dilated Cardiomyopathy Panel Panel

Ventricular Arrythmia & Sudden Death Panel with Structural Heart Disease Panel

Cardiomyopathies Panel Panel

Hypertrophic Cardiomyopathy Extended Panel Panel

Cardiovascular Diseases_General Panel Panel

Non-compaction cardiomyopathy Panel

Dilated Cardiomyopathy Panel Panel

Arrhythmia General Panel Panel

Hypertrophic cardiomyopathy extended panel Panel

Resctrictive cardiomyopathy Panel

Cardiomyopathies General Panel Panel

Invitae Arrhythmia Comprehensive Panel Panel

Invitae Arrhythmia and Cardiomyopathy Comprehensive Panel Panel

Invitae Arrhythmogenic Cardiomyopathy Panel Panel

Invitae Cardiomyopathy Comprehensive Panel Panel

Invitae Dilated Cardiomyopathy Panel Panel