Congenital muscular dystrophy and congenital myopathy
Gene: STIM1EnsemblGeneIds (GRCh38): ENSG00000167323
EnsemblGeneIds (GRCh37): ENSG00000167323
OMIM: 605921, Gene2Phenotype
STIM1 is in 12 panels
5 reviews
Louise Daugherty (Genomics England Curator)
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)
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 160565Created: 4 Jan 2018, 1:48 p.m.
Mode of pathogenicity
Other
Anna Sarkozy (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, tubular aggregate, 160565
Publications
Helen Brittain (Genomics England Curator)
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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- London South GLH
- Radboud University Medical Center, Nijmegen
- Expert Review Green
- UKGTN
- NHS GMS
- Expert
- Phenotypes
-
- Myopathy, tubular aggregate, 1, OMIM:160565
- Tags
- OMIM
- 605921
- Clinvar variants
- Variants in STIM1
- Penetrance
- Complete
- Publications
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Non-syndromic familial congenital anorectal malformations
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Bleeding and platelet disorders
- Amelogenesis imperfecta
- Congenital myopathy
- COVID-19 research
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Inherited bleeding disorders
- Fetal anomalies
- DDG2P
- Arthrogryposis
History Filter Activity
Created, Added New Source, Added Tag, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Arina Puzriakova (Genomics England Curator)gene: STIM1 was added gene: STIM1 was added to Congenital muscular dystrophy and congenital myopathy. Sources: Expert,NHS GMS,UKGTN,Expert Review Green,Radboud University Medical Center, Nijmegen,London South GLH missense tags were added to gene: STIM1. Mode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: STIM1 were set to 23332920 Phenotypes for gene: STIM1 were set to Myopathy, tubular aggregate, 1, OMIM:160565 Penetrance for gene: STIM1 were set to Complete