Neuromuscular arthrogryposis
Gene: ACTA1
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital May 2019 on behalf of London South GLH for the GMS Neurology specialist test groupCreated: 16 May 2019, 9:33 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Myopathy, actin, congenital, with cores, 161800; Myopathy, actin, congenital, with excess of thin myofilaments 161800; Myopathy, congenital, with fiber-type disproportion 1, 255310; Nemaline myopathy 3, 161800
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to ACTA1.
Source Expert Review Green was added to ACTA1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: ACTA1 was added gene: ACTA1 was added to Neuromuscular arthrogryposis. Sources: London South GLH Mode of inheritance for gene: ACTA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: ACTA1 were set to Myopathy, actin, congenital, with excess of thin myofilaments 161800; Myopathy, congenital, with fiber-type disproportion 1, 255310; Nemaline myopathy 3, 161800; Myopathy, actin, congenital, with cores, 161800