Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: ACTA1Comment on list classification: This gene will remain Red based on the review and comments from Chiara Marini Bettolo (NUTH).Created: 28 Nov 2019, 5:31 p.m. | Last Modified: 28 Nov 2019, 5:31 p.m.
Panel Version: 1.182
congenital myopathyCreated: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
congenital myopathy; scapuloperoneal myopathy
Publications
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, scapulohumeroperoneal, 616852
Publications
Gene: acta1 has been classified as Red List (Low Evidence).
Source NHS GMS was added to ACTA1.
Source Yorkshire and North East GLH was added to ACTA1.
Mode of inheritance for gene ACTA1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Added phenotypes Myopathy, scapulohumeroperoneal, 616852 for gene: ACTA1 Publications for gene ACTA1 were changed from to 25938801
gene: ACTA1 was added gene: ACTA1 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: ACTA1 was set to