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  2. Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
  3. ACTA1
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Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

Gene: ACTA1

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

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).
Created: 28 Nov 2019, 5:31 p.m. | Last Modified: 28 Nov 2019, 5:31 p.m.
Panel Version: 1.182
Created: 28 Nov 2019, 5:31 p.m.
Last Modified: 28 Nov 2019, 5:31 p.m.
Panel version: 1.182

Chiara Marini Bettolo (NUTH)

Red List (low evidence)

congenital myopathy
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
congenital myopathy; scapuloperoneal myopathy

Publications

Created: 10 May 2019, 2:28 p.m.

Panel version: 1.97

Ana Topf (John Walton Muscular Dystrophy Research Centre)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myopathy, scapulohumeroperoneal, 616852

Publications

Created: 17 Apr 2019, 12:40 p.m.

Panel version: 1.17

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert Review
Phenotypes
  • Myopathy, scapulohumeroperoneal, 616852
OMIM
102610
Clinvar variants
Variants in ACTA1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 1

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

Gene: acta1 has been classified as Red List (Low Evidence).

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ACTA1.

13 May 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ACTA1.

17 Apr 2019, Gel status: 1

Set mode of inheritance, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene ACTA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Myopathy, scapulohumeroperoneal, 616852 for gene: ACTA1 Publications for gene ACTA1 were changed from to 25938801

17 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ACTA1 was added gene: ACTA1 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: ACTA1 was set to