Distal myopathies

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

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

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, 161800
OMIM
102610
Clinvar variants
Variants in ACTA1
Penetrance
Incomplete
Panels with this gene

History Filter Activity

22 Feb 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 22nd of February 2017, after revising with the curation team and the expert from UCL Dr Bugiardini.

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

20 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Arianna Tucci (Genomics England Curator)

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

9 Feb 2017, Gel status: 0

Added New Source

Arianna Tucci (Genomics England Curator)

ACTA1 was added to Distal myopathiespanel. Sources: Expert Review

9 Feb 2017, Gel status: 0

Created

Arianna Tucci (Genomics England Curator)

ACTA1 was created by arianna