Congenital myopathy
Gene: STIM1
Gene rating and review submitted by Rachael Mein, Viapath Guy's Hospital February 2019 on on behalf of London South GLH for the GMS Neurology specialist test group.Created: 30 Apr 2019, 10:09 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, tubular aggregate, 160565
Publications
Variants in this GENE are reported as part of current diagnostic practice
Monoallelic missense variants consistent with a gain-of-function effect in Myopathy, tubular aggregate, 1 160565Created: 4 Jan 2018, 1:48 p.m.
Mode of pathogenicity
Other
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, tubular aggregate, 160565
Publications
Comment when marking as ready: Variable expressivity in terms of age of onset noted. Activating missense.Created: 3 Feb 2017, 11:32 a.m.
Comment on list classification: 4 families with mainly childhood onset reported. Although some presented later (could be relevant to apparently unaffected parent)Created: 3 Feb 2017, 11:25 a.m.
There are four families in the above PMID; all of which are reported as having missense mutations in an activating capacity. The phenotype is associated with histological features of membrane tubules (not in the inclusion criteria) and on the whole childhood onset, although within families adolescent / adult onset is reported.Created: 30 Jan 2017, 11:55 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, tubular aggregate, 1 160565
Publications
Mode of pathogenicity
Other
Phenotypes for gene: STIM1 were changed from Myopathy, tubular aggregate, 160565 to Myopathy, tubular aggregate, 1, OMIM:160565
Source NHS GMS was added to STIM1.
Source London South GLH was added to STIM1. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
This gene has been classified as Green List (High Evidence).
Phenotypes for STIM1 were set to Myopathy, tubular aggregate, 160565
Publications for STIM1 were set to 23332920
Mode of inheritance for STIM1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
This gene has been classified as Green List (High Evidence).
STIM1 was added to Congenital myopathypanel. Sources: Expert
STIM1 was added to Congenital myopathypanel. Sources: UKGTN
STIM1 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen