Congenital muscular dystrophy
Gene: ACTA1EnsemblGeneIds (GRCh38): ENSG00000143632
EnsemblGeneIds (GRCh37): ENSG00000143632
OMIM: 102610, Gene2Phenotype
ACTA1 is in 10 panels
3 reviews
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Keep as amber due to reviewer comments that there is only one reported case for CMD.Created: 27 Jan 2017, 1:38 p.m.
Arianna Tucci (Genomics England Curator)
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: 25 Jan 2017, 3:43 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 3, autosomal dominant or recessive 161800; Myopathy, congenital, with fiber-type disproportion 1 255310
Emma Clement (Great Ormond Street Hospital)
usually causes myopathy but case reports of CMD presentation (O'grady EJHG 2015)Created: 19 Dec 2016, 12:02 p.m.
usually causes myopathy but case reports of CMD presentation (O'grady EJHG 2015)Created: 19 Dec 2016, noon
Phenotypes
CMD with rigid spine
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- CMD with rigid spine
- Nemaline myopathy 3, autosomal dominant or recessive 161800
- Myopathy, congenital, with fiber-type disproportion 1 255310
- OMIM
- 102610
- Clinvar variants
- Variants in ACTA1
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27.01.2017 Panel revised after expert review and internal review with further curation.
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Ellen McDonagh (Genomics England Curator)Phenotypes for ACTA1 were set to CMD with rigid spine;Nemaline myopathy 3, autosomal dominant or recessive 161800; Myopathy, congenital, with fiber-type disproportion 1 255310
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ACTA1 were set to 24642510; 25182138 - report of two brothers with congenital muscular dystrophy with rigid spine homozygous for a missense variant (parents were heterozygous, unaffected siblings were either heterozygous or homozygous for the wildtype allele); 25913210; 26436962; 20179953
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ACTA1 was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set publications
Ellen McDonagh (Genomics England Curator)Publications for ACTA1 were set to 24642510;25182138;25913210;26436962;20179953
Approved Gene
Ellen McDonagh (Genomics England Curator)This proposed gene was validated and added to this panel
Added New Source
Emma Clement (Great Ormond Street Hospital)ACTA1 was added to Congenital muscular dystrophypanel. Sources: Expert Review
Created
Emma Clement (Great Ormond Street Hospital)ACTA1 was created by eclement