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 12 panels

4 reviews

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.

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

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

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

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • UKGTN
Phenotypes
  • 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

5 Jul 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ACTA1 were changed from Myopathy, actin, congenital, with cores; Myopathy, actin, congenital, with excess of thin myofilaments; Myopathy, congenital, with fiber-type disproportion 1; Nemaline myopathy 3 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

30 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ACTA1.

30 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to ACTA1. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Feb 2017, Gel status: 4

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.

31 Jan 2017, Gel status: 4

Gene classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

31 Jan 2017, Gel status: 4

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

Phenotypes for ACTA1 were set to Myopathy, actin, congenital, with cores; Myopathy, actin, congenital, with excess of thin myofilaments; Myopathy, congenital, with fiber-type disproportion 1; Nemaline myopathy 3

31 Jan 2017, Gel status: 4

Set publications

Ellen McDonagh (Genomics England Curator)

Publications for ACTA1 were set to 22825594; 19562689

31 Jan 2017, Gel status: 4

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for ACTA1 was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

13 May 2015, Gel status: 4

Added New Source

Eik Haraldsdottir (Genomics England)

ACTA1 was added to Congenital myopathypanel. Sources: Expert

28 Apr 2015, Gel status: 4

Added New Source

GEL ()

ACTA1 was added to Congenital myopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services

28 Apr 2015, Gel status: 3

Added New Source

GEL ()

ACTA1 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

ACTA1 was added to Congenital myopathypanel. Sources: Emory Genetics Laboratory

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

ACTA1 was added to Congenital myopathypanel. Sources: UKGTN