Congenital muscular dystrophy
Gene: ACTA1Comment 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.
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
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
27.01.2017 Panel revised after expert review and internal review with further curation.
This gene has been classified as Amber List (Moderate Evidence).
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
This gene has been classified as Amber List (Moderate Evidence).
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
Mode of inheritance for ACTA1 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Amber List (Moderate Evidence).
Publications for ACTA1 were set to 24642510;25182138;25913210;26436962;20179953
This proposed gene was validated and added to this panel
ACTA1 was added to Congenital muscular dystrophypanel. Sources: Expert Review
ACTA1 was created by eclement