Congenital myopathy

Gene: STIM1

I don't know

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.

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Myopathy, tubular aggregate, 160565

Publications

• 23332920

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 160565

Created: 4 Jan 2018, 1:48 p.m.

Mode of pathogenicity
Other

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Myopathy, tubular aggregate, 160565

Publications

• 23332920

Green List (high evidence)

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

• PMID 23332920

Mode of pathogenicity
Other