Congenital myopathy

Gene: STIM1

Green List (high evidence)

STIM1 (stromal interaction molecule 1)
EnsemblGeneIds (GRCh38): ENSG00000167323
EnsemblGeneIds (GRCh37): ENSG00000167323
OMIM: 605921, Gene2Phenotype
STIM1 is in 13 panels

5 reviews

Louise Daugherty (Genomics England Curator)

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.

Rachael Mein (Viapath at Guy's Hospital)

Green List (high evidence)

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

Sarah Leigh (Genomics England Curator)

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

Anna Sarkozy (Great Ormond Street Hospital)

Green List (high evidence)

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

Phenotypes
Myopathy, tubular aggregate, 160565

Publications

Helen Brittain (Genomics England Curator)

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

Mode of pathogenicity
Other

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • London South GLH
  • Expert Review Green
  • Expert
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, tubular aggregate, 160565
Tags
missense
OMIM
605921
Clinvar variants
Variants in STIM1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

30 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to STIM1.

30 Apr 2019, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source London South GLH was added to STIM1. Rating Changed from Green List (high evidence) to Green List (high evidence)

22 Feb 2017, Gel status: 4

panel promoted to version 1

Helen Brittain (Genomics England Curator)

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.

3 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

3 Feb 2017, Gel status: 4

Set Phenotypes

Helen Brittain (Genomics England Curator)

Phenotypes for STIM1 were set to Myopathy, tubular aggregate, 160565

3 Feb 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for STIM1 were set to 23332920

3 Feb 2017, Gel status: 4

Set Mode of Inheritance

Helen Brittain (Genomics England Curator)

Mode of inheritance for STIM1 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

3 Feb 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

13 May 2015, Gel status: 2

Added New Source

Eik Haraldsdottir (Genomics England)

STIM1 was added to Congenital myopathypanel. Sources: Expert

28 Apr 2015, Gel status: 2

Added New Source

GEL ()

STIM1 was added to Congenital myopathypanel. Sources: UKGTN

28 Apr 2015, Gel status: 1

Added New Source

GEL ()

STIM1 was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen