Neuromuscular arthrogryposisGene: STIM1
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 group
Created: 16 May 2019, 9:33 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Myopathy, tubular aggregate, 160565
Variants in this GENE are reported as part of current diagnostic practice
Source NHS GMS was added to STIM1.
Source Expert Review Green was added to STIM1. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: STIM1 was added gene: STIM1 was added to Neuromuscular arthrogryposis. Sources: London South GLH Mode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: STIM1 were set to Myopathy, tubular aggregate, 160565