Genomics England
GMS Panels
Panels
Genes and Entities

STIM1

stromal interaction molecule 1
OMIM: 605921
PanelMode of inheritanceDetails
6 panels
Green
in Amelogenesis imperfecta
R-numbers: R340
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Immunodeficiency 10, 612783
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Myopathy, tubular aggregate, 160565, Stormorken syndrome 185070
Green
in Bleeding and platelet disorders
R-numbers: R90
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
185070 Stormorken syndrome
Green
in Congenital myopathy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R81
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, tubular aggregate, 1, OMIM:160565
Green
in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Myopathy, tubular aggregate, 1, 160565
Green
in Primary immunodeficiency or monogenic inflammatory bowel disease
R-numbers: R15
Signed-off version 4.0
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