Stroke
Gene: STIM1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, recurrent strokes are a feature.
Created: 21 May 2021, 8:13 a.m. | Last Modified: 21 May 2021, 8:13 a.m.

Panel Version: 0.99

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Stormorken syndrome, MIM# 185070

Created: 21 May 2021, 8:13 a.m.
Last Modified: 21 May 2021, 8:13 a.m.
Panel version: 0.99

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Royal Melbourne Hospital

Phenotypes

Stormorken syndrome, MIM# 185070

OMIM

605921

Clinvar variants

Variants in STIM1

Penetrance

None

Panels with this gene

History Filter Activity

21 May 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: stim1 has been classified as Green List (High Evidence).

21 May 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: STIM1 were changed from Stormorken syndrome to Stormorken syndrome, MIM# 185070

22 Apr 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: STIM1 was added gene: STIM1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital Mode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: STIM1 were set to Stormorken syndrome

Stroke Gene: STIM1