Muscular dystrophy and myopathy_Paediatric

Gene: ACTA1

Green List (high evidence)

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

Green List (high evidence)

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

• PMID: 19562689
• 15236405