Muscular dystrophy and myopathy_Paediatric
Gene: ACTA1
Variants in this gene are associated with a range of myopathies. However, the newsline myopathy can have mildly raised CK, and central features.Created: 1 Jun 2022, 8:47 p.m. | Last Modified: 1 Jun 2022, 8:47 p.m.
Panel Version: 0.103
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 3, autosomal dominant or recessive, MIM# 161800
No genotype-phenotype correlation (OMIM), but nearly all PTCs have been reported for AR disease
Incomplete penetrance has been described but report is older (none with newer reports) where 2nd hits were potentially missed or variant pathogenicity incorrectly called.Created: 30 Jan 2020, 10:43 p.m. | Last Modified: 30 Jan 2020, 10:43 p.m.
Panel Version: 0.1054
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, actin, congenital, with cores; Myopathy, actin, congenital, with excess of thin myofilaments; Myopathy, congenital, with fiber-type disproportion 1; Nemaline myopathy 3; ?Myopathy, scapulohumeroperoneal
Publications
Gene: acta1 has been classified as Green List (High Evidence).
Phenotypes for gene: ACTA1 were changed from to Nemaline myopathy 3, autosomal dominant or recessive, MIM# 161800
Publications for gene: ACTA1 were set to
Mode of inheritance for gene: ACTA1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
gene: ACTA1 was added gene: ACTA1 was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: ACTA1 was set to Unknown