Distal myopathies
Gene: ACTA1

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

1 review

Arianna Tucci (Genomics England Curator)

Green List (high evidence)

Comment when marking as ready: Can cause overlapping phenotype
Created: 20 Feb 2017, 11:55 a.m.

Can cause a distal myopathy phenotype, as discuss with expert Dr. Bugiardini (UCL Institute of Neuology). V Broad phenotype, ranging from severe congenital to childhood onset
Created: 20 Feb 2017, 11:54 a.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 3, 161800

Created: 9 Feb 2017, 2:19 p.m.

Panel version: 0.11

Details

Mode of Inheritance

BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Sources

Expert Review Green
Expert Review

Phenotypes

Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800

OMIM

102610

Clinvar variants

Variants in ACTA1

Penetrance

Incomplete

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 Nemaline myopathy 3, 161800 to Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800

22 Feb 2017, Gel status: 4