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  2. Dilated Cardiomyopathy (DCM)
  3. ACTN2
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Dilated Cardiomyopathy (DCM)

Gene: ACTN2

Green List (high evidence)
ACTN2 (actinin alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000077522
EnsemblGeneIds (GRCh37): ENSG00000077522
OMIM: 102573, Gene2Phenotype
ACTN2 is in 10 panels

2 reviews

Caroline Wright (Genomics England Curator)

Comment when marking as ready: On Manchester diagnostic panel
Created: 11 Feb 2016, 1:57 p.m.
Created: 11 Feb 2016, 1:57 p.m.

Panel version: 0.4

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

Variants in this GENE are reported as part of current diagnostic practice

Created: 6 Jan 2016, 5:12 p.m.

Panel version: 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • UKGTN
  • Emory Genetics Laboratory
  • Illumina TruGenome Clinical Sequencing Services
  • Expert list
Phenotypes
  • Dilated Cardiomyopathy, Dominant
OMIM
102573
Clinvar variants
Variants in ACTN2
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Feb 2016, Gel status: 4

Gene classified by Genomics England curator

Caroline Wright (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 Jul 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

ACTN2 was added to Dilated Cardiomyopathy (DCM)panel. Sources: UKGTN

13 Jul 2015, Gel status: 2

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ACTN2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 2

Added New Source

Ellen McDonagh (Genomics England Curator)

ACTN2 was added to Dilated Cardiomyopathy (DCM)panel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory

13 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ACTN2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ACTN2 was added to Dilated Cardiomyopathy (DCM)panel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory

13 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ACTN2 was added to Dilated Cardiomyopathy (DCM)panel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,Emory Genetics Laboratory