Congenital myopathy

Gene: ACTN2

Green List (high evidence)

ACTN2 (actinin alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000077522
EnsemblGeneIds (GRCh37): ENSG00000077522
OMIM: 102573, Gene2Phenotype
ACTN2 is in 9 panels

5 reviews

Dmitrijs Rots (RadboudUMC)

Now also report of three families with bialellic variants.
Created: 28 Nov 2021, 1:43 p.m. | Last Modified: 28 Nov 2021, 1:43 p.m.
Panel Version: 2.68

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

Zornitza Stark (Australian Genomics)

I don't know

Gene causes a number of phenotypes. Evidence for congenital onset of myopathy is limited to one family. Second family proband described as having onset in childhood with physical difference noticed at 7 years old, later progressing to muscle atrophy and facial weakness at 40 years old. More recent report of another three families, but all with adult onset disease.
Created: 10 Jun 2020, 8:37 p.m. | Last Modified: 10 Jun 2020, 8:37 p.m.
Panel Version: 2.5

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopathy, congenital with structured cores and Z-line abnormalities 618654; Myopathy, distal, 6, adult onset 618655

Publications

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

2 variants in this gene found in 2 unrelated families were presented as oral communication the World Muscle society meeting in Argentina. the functional data presented would suggest that variants in this gene are disease causing. this result is now published Acta Neuropathol. 2019 Mar;137(3):501-519.
Created: 30 May 2019, 4:32 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Comment on list classification: Upgraded from Amber to Green. Appropriate phenotypes, sufficient cases (with functional work), and external review comment all support gene-disease association.
Created: 17 Oct 2019, 1:25 p.m. | Last Modified: 17 Oct 2019, 1:25 p.m.
Panel Version: 1.181
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.
Created: 30 Apr 2019, 10:09 a.m.

Rachael Mein (Viapath at Guy's Hospital)

I don't know

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Multiple structured Core Disease

Publications

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • NHS GMS
  • London South GLH
Phenotypes
  • Multiple structured Core Disease
  • progressive early-onset muscle weakness
OMIM
102573
Clinvar variants
Variants in ACTN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jun 2021, Gel status: 3

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ACTN2 were set to 24692096; 30701273

17 Oct 2019, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: actn2 has been classified as Green List (High Evidence).

16 Oct 2019, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: actn2 has been classified as Amber List (Moderate Evidence).

16 Oct 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ACTN2 were changed from Multiple structured Core Disease to Multiple structured Core Disease; progressive early-onset muscle weakness

16 Oct 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ACTN2 were set to 24692096

3 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ACTN2 were changed from CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310; Nemaline myopathy 1, autosomal dominant or recessive, 609284 to Multiple structured Core Disease

3 May 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ACTN2 were set to

3 May 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ACTN2 were changed from to CAP myopathy 1, 609284; Myopathy, congenital, with fiber-type disproportion, 255310; Nemaline myopathy 1, autosomal dominant or recessive, 609284

3 May 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

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

30 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ACTN2.

30 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ACTN2 was added gene: ACTN2 was added to Congenital myopathy. Sources: London South GLH Mode of inheritance for gene: ACTN2 was set to