Gene symbol and protein | Gene Location | All allelic disease phenotypes - locus/disease symbols |
ACTA1 Alpha actin, skeletal muscle       | 1q42.1 | * Congenital myopathy 2A, typical - CMYP2A (2.46, 3.1, 3.2, 3.37, 3.38)* Nemaline myopathy 3 - NEM3 (2.46, 3.1, 3.2, 3.37, 3.38)* Congenital myopathy 2B, severe infantile - CMYP2B (2.46, 3.1, 3.2, 3.37, 3.38)* myopathy, congenital, with fiber-type disproportion - CFTD (2.46, 3.1, 3.2, 3.37, 3.38)* Congenital muscular dystrophy with rigid spine related to ACTA1 - (2.46, 3.1, 3.2, 3.37, 3.38)* Left ventricular noncompaction 4 - LVNC4 (2.46, 3.1, 3.2, 3.37, 3.38)* Congenital myopathy 2C, severe infantile, dominant - CMYP2C (2.46, 3.1, 3.2, 3.37, 3.38) |