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

Ambry Genetics classifications

combined immunodeficiency due to STIM1 deficiency
Submitted as: OMIM:612783
AR
10/02/2023
Evaluated
01/02/2024
Submitted
myopathy, tubular aggregate, 1
Submitted as: OMIM:160565
AD
10/03/2023
Evaluated
01/02/2024
Submitted

ClinGen classifications

tubular aggregate myopathy
AD
04/01/2021
Evaluated
10/18/2023
Submitted

Invitae 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

Orphanet 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

G2P classifications

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

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