Arthrogryposis
Gene: STIM1EnsemblGeneIds (GRCh38): ENSG00000167323
EnsemblGeneIds (GRCh37): ENSG00000167323
OMIM: 605921, Gene2Phenotype
STIM1 is in 12 panels
3 reviews
Rebecca Foulger (Genomics England curator)
Updated rating from Amber to Green based on Green rating on 'Neuromuscular arthrogryposis' v0.21 panel.Created: 26 Nov 2019, 2:22 p.m. | Last Modified: 26 Nov 2019, 2:22 p.m.
Panel Version: 2.60
Sarah Leigh (Genomics England Curator)
Comment on mode of pathogenicity: Monoallelic missense variants consistent with a gain-of-function effect in Myopathy, tubular aggregate, 160565 and Stormorken syndrome 185070Created: 4 Jan 2018, 1:54 p.m.
Comment on phenotypes: Biallelic variants reported in Immunodeficiency 10 612783Created: 4 Jan 2018, 1:53 p.m.
Alice Gardham (Genomics England)
Comment when marking as ready: Not enough evidence to promote to greenCreated: 16 Jan 2017, 11:40 a.m.
Comment on mode of pathogenicity: Activating mutationsCreated: 22 Dec 2016, 11:11 a.m.
Unable to find documented association with arthrogryposis also listed as causing arthrogryposis on the Guy's panelCreated: 22 Dec 2016, 11:10 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, tubular aggregate, 1 160565
Publications
Mode of pathogenicity
Other
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Myopathy, tubular aggregate, 160565
- Stormorken syndrome 185070
- Tags
- OMIM
- 605921
- Clinvar variants
- Variants in STIM1
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Other - please provide details in the comments
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Amelogenesis imperfecta
- Non-syndromic familial congenital anorectal malformations
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Bleeding and platelet disorders
- DDG2P
- Fetal anomalies
- Congenital myopathy
- Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
- Arthrogryposis
- Inherited bleeding disorders
- COVID-19 research
History Filter Activity
Entity classified by Genomics England curator
Rebecca Foulger (Genomics England curator)Gene: stim1 has been classified as Green List (High Evidence).
Set mode of pathogenicity
Sarah Leigh (Genomics England Curator)Mode of pathogenicity for STIM1 was changed to Other - please provide details in the comments
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for STIM1 were set to Myopathy, tubular aggregate, 160565; Stormorken syndrome 185070
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Amber List (Moderate Evidence).
Set mode of pathogenicity
Alice Gardham (Genomics England)Mode of pathogenicity for STIM1 was changed to Other - please provide details in the comments
Set publications
Alice Gardham (Genomics England)Publications for STIM1 were set to 23332920
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for STIM1 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Added New Source
Ellen McDonagh (Genomics England Curator)STIM1 was added to Arthrogryposispanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN,Expert
Created
Ellen McDonagh (Genomics England Curator)STIM1 was created by ellenmcdonagh