STIM1

stromal interaction molecule 1
OMIM: 605921
PanelMode of inheritanceDetails
6 panels
R-numbers: R340
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 10, 612783
R-numbers: R83
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, tubular aggregate, 160565, Stormorken syndrome 185070
R-numbers: R90
Signed-off version 1.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
185070 Stormorken syndrome
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R81
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, tubular aggregate, 160565
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 2.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, tubular aggregate, 1, 160565
R-numbers: R15
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
T-B+ SCID, Immunodeficiency 10, 612783, Combined immunodeficiency, Combined immunodeficiency due to STIM1 deficiency, Autoimmunity, EDA, non-progressive myopathy, Combined immunodeficiencies with associated or syndromic features, Combined immunodeficiency due to STIM1 deficiency ORPHA:317430