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  2. Congenital muscular dystrophy and congenital myopathy
  3. ACTA1
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Congenital muscular dystrophy and congenital myopathy

Gene: ACTA1

Green List (high evidence)
ACTA1 (actin, alpha 1, skeletal muscle)
EnsemblGeneIds (GRCh38): ENSG00000143632
EnsemblGeneIds (GRCh37): ENSG00000143632
OMIM: 102610, Gene2Phenotype
ACTA1 is in 10 panels

5 reviews

Arina Puzriakova (Genomics England Curator)

Emma Clement (Great Ormond Street Hospital) reviewing this gene on the old GMS Congenital muscular dystrophy panel notes (rated Amber): 'usually causes myopathy but case reports of CMD presentation (O'grady EJHG 2015)'

Arianna Tucci (Genomics England Curator) reviewing this gene on the old GMS Congenital muscular dystrophy panel notes (rated Amber): 'Mutations in ACTA1 cause several congenital myopathies, most commonly nemaline myopathy. Only one report of 2 brothers with biallelic mutations and congenital muscular dystrophy with rigid spine (25182138).'
Created: 3 Feb 2023, 11:09 a.m. | Last Modified: 3 Feb 2023, 2:19 p.m.
Panel Version: 0.46
Created: 3 Feb 2023, 11:09 a.m.
Last Modified: 3 Feb 2023, 2:19 p.m.
Panel version: 0.4

Louise Daugherty (Genomics England Curator)

I don't know

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.
Created: 30 Apr 2019, 10:09 a.m.

Copied from panel: Congenital myopathy v3.14

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myopathy, actin, congenital, with cores; Myopathy, actin, congenital, with excess of thin myofilaments; Myopathy, congenital, with fiber-type disproportion 1; Nemaline myopathy 3

Publications

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

Created: 30 Apr 2019, 10:05 a.m.

Copied from panel: Congenital myopathy v3.14

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myopathy, actin, congenital, with cores; Myopathy, actin, congenital, with excess of thin myofilaments; Myopathy, congenital, with fiber-type disproportion 1; Nemaline myopathy 3

Publications

Created: 6 Mar 2017, 12:14 p.m.

Copied from panel: Congenital myopathy v3.14

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Monoallelic mutations tend to be missense and this appears to be the predominant inheritance pattern.
Biallelic mutations tend to be truncating

Appears on UKGTN current diagnostic panel
Created: 23 Jan 2017, 3:54 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myopathy, actin, congenital, with cores; Myopathy, actin, congenital, with excess of thin myofilaments; Myopathy, congenital, with fiber-type disproportion 1; Nemaline myopathy 3

Publications

Created: 23 Jan 2017, 3:54 p.m.

Copied from panel: Congenital myopathy v3.14

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Illumina TruGenome Clinical Sequencing Services
  • London South GLH
  • Radboud University Medical Center, Nijmegen
  • Expert Review Green
  • Emory Genetics Laboratory
  • UKGTN
  • NHS GMS
  • Expert
Phenotypes
  • Myopathy, scapulohumeroperoneal, OMIM:616852
  • Myopathy, actin, congenital, with cores, OMIM:161800
  • Myopathy, actin, congenital, with excess of thin myofilaments, OMIM:161800
  • Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310
  • Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
OMIM
102610
Clinvar variants
Variants in ACTA1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

3 Feb 2023, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ACTA1 were changed from Myopathy, actin, congenital, with cores, OMIM:161800; Myopathy, actin, congenital, with excess of thin myofilaments, OMIM:161800; Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310; Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800 to Myopathy, scapulohumeroperoneal, OMIM:616852; Myopathy, actin, congenital, with cores, OMIM:161800; Myopathy, actin, congenital, with excess of thin myofilaments, OMIM:161800; Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310; Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800

3 Feb 2023, Gel status: 3

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: ACTA1 were set to 22825594; 19562689

3 Feb 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Arina Puzriakova (Genomics England Curator)

gene: ACTA1 was added gene: ACTA1 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Expert,NHS GMS,UKGTN,Emory Genetics Laboratory,Expert Review Green,Radboud University Medical Center, Nijmegen,London South GLH,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: ACTA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ACTA1 were set to 22825594; 19562689 Phenotypes for gene: ACTA1 were set to Myopathy, actin, congenital, with cores, OMIM:161800; Myopathy, actin, congenital, with excess of thin myofilaments, OMIM:161800; Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310; Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800 Penetrance for gene: ACTA1 were set to Complete