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  2. Fetal anomalies
  3. STIM1
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Fetal anomalies

Gene: STIM1

Amber List (moderate evidence)
STIM1 (stromal interaction molecule 1)
EnsemblGeneIds (GRCh38): ENSG00000167323
EnsemblGeneIds (GRCh37): ENSG00000167323
OMIM: 605921, Gene2Phenotype
STIM1 is in 12 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

I don't know

This gene and phenotype were reviewed during meetings between November 2023 & July 2024. The meetings included representatives of the North Thames and Central & South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler, Alison Male and Lyn Chitty (North Thames GLH), Stephanie Allen, Natalie Bibb, Esther Kinning and Denise Williams (Central & South GLH) and Natalie Canham, Anna De Burca and Samantha Doyle R21 Clinical Oversight Group.
Created: 29 Aug 2024, 8:33 p.m. | Last Modified: 29 Aug 2024, 8:33 p.m.
Panel Version: 4.36
This review was provided by Alison Male from North Thames GLH: Green in paediatric, arthrogryposis panels among others. Contractures are reported with childhood onset but cannot find reports of occuring prenatally. Same as ORAI1 which we have as amber. Suggest amber.
Created: 29 Aug 2024, 8:07 p.m. | Last Modified: 29 Aug 2024, 8:07 p.m.
Panel Version: 4.35

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Myopathy, tubular aggregate, OMIM:160565; Immunodeficiency 10, OMIM:612783; Stormorken syndrome, OMIM:185070

Publications

Created: 29 Aug 2024, 8:07 p.m.
Last Modified: 29 Aug 2024, 8:07 p.m.
Panel version: 4.36

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • Myopathy, tubular aggregate, OMIM:160565
  • Immunodeficiency 10, OMIM:612783
  • Stormorken syndrome, OMIM:185070
OMIM
605921
Clinvar variants
Variants in STIM1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Aug 2024, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: STIM1 was added gene: STIM1 was added to Fetal anomalies. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: STIM1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: STIM1 were set to 20876309; 31448844 Phenotypes for gene: STIM1 were set to Myopathy, tubular aggregate, OMIM:160565; Immunodeficiency 10, OMIM:612783; Stormorken syndrome, OMIM:185070