Gene Symbol:
STIM1
HGNC:11386
Locus Group:
protein-coding gene
Locus Type:
gene with protein product
Location:
11p15.4
Filters:

Definitive classifications

tubular aggregate myopathy
AD
04/01/2021
Evaluated
04/21/2024
Submitted
myopathy, tubular aggregate, 1
Submitted as: OMIM:160565
AD
10/03/2023
Evaluated
01/02/2024
Submitted

Strong classifications

combined immunodeficiency due to STIM1 deficiency
Submitted as: OMIM:612783
AR
03/19/2021
Evaluated
11/30/2023
Submitted
myopathy, tubular aggregate, 1
Submitted as: OMIM:160565
AD
12/17/2018
Evaluated
11/30/2023
Submitted

Moderate classifications

combined immunodeficiency due to STIM1 deficiency
Submitted as: OMIM:612783
AR
10/02/2023
Evaluated
01/02/2024
Submitted

Supportive classifications

Stormorken syndrome
Submitted as: Orphanet:3204
AD
09/14/2021
Evaluated
09/14/2021
Submitted
tubular aggregate myopathy
Submitted as: Orphanet:2593
AD
09/14/2021
Evaluated
09/14/2021
Submitted
combined immunodeficiency due to STIM1 deficiency
Submitted as: Orphanet:317430
AR
09/14/2021
Evaluated
09/14/2021
Submitted

Limited classifications

myopathy, tubular aggregate, 1
Submitted as: OMIM:160565
AD
07/22/2015
Evaluated
09/11/2023
Submitted

The GenCC data are available free of restriction under a CC0 1.0 Universal (CC0 1.0) Public Domain Dedication. The GenCC requests that you give attribution to GenCC and the contributing sources whenever possible and appropriate. The accepted Flagship manuscript is now available from Genetics in Medicine (https://www.gimjournal.org/article/S1098-3600(22)00746-8/fulltext).

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. The GenCC does not independently verify the submitted information. Though the information is obtained from sources believed to be reliable, no warranty, expressed or implied, is made regarding accuracy, adequacy, completeness, reliability or usefulness of any information. This disclaimer applies to both isolated and aggregate uses of the information. The information is provided on an "as is" basis, collected through periodic submission and therefore may not represent the most up-to-date information from the submitters. If you have questions about the medical relevance of information contained on this website, please see a healthcare professional; if you have questions about specific gene-disease claims, please contact the relevant sources; and if you have questions about the representation of the data on this website, please contact gencc@thegencc.org.