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Congenital myopathy v2.45 ACTA1 Ivone Leong Phenotypes for gene: ACTA1 were changed from Myopathy, actin, congenital, with cores; Myopathy, actin, congenital, with excess of thin myofilaments; Myopathy, congenital, with fiber-type disproportion 1; Nemaline myopathy 3 to Myopathy, actin, congenital, with cores, OMIM:161800; Myopathy, actin, congenital, with excess of thin myofilaments, OMIM:161800; Myopathy, congenital, with fiber-type disproportion 1, OMIM:255310; Nemaline myopathy 3, autosomal dominant or recessive, OMIM:161800
Congenital myopathy v1.76 ACTA1 Louise Daugherty reviewed gene: ACTA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Congenital myopathy v1.75 ACTA1 Rachael Mein reviewed gene: ACTA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22825594, 19562689; Phenotypes: Myopathy, actin, congenital, with cores, Myopathy, actin, congenital, with excess of thin myofilaments, Myopathy, congenital, with fiber-type disproportion 1, Nemaline myopathy 3; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes
Congenital myopathy v1.74 ACTA1 Louise Daugherty Source NHS GMS was added to ACTA1.
Congenital myopathy v1.73 ACTA1 Louise Daugherty Source London South GLH was added to ACTA1.
Rating Changed from Green List (high evidence) to Green List (high evidence)
Congenital myopathy ACTA1 Anna Sarkozy reviewed ACTA1
Congenital myopathy ACTA1 Ellen McDonagh marked ACTA1 as ready
Congenital myopathy ACTA1 Helen Brittain commented on ACTA1
Congenital myopathy ACTA1 Helen Brittain reviewed ACTA1