1. Genes and Genomic Entities
  2. STIM1

STIM1

stromal interaction molecule 1
OMIM: 605921, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Green STIM1 in COVID-19 research


Level 2: Viral research
Version 1.146

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • IUIS Classification February 2018
  • SCID v1.6
  • London North GLH
  • NHS GMS
  • GRID V2.0
  • Victorian Clinical Genetics Services
  • North West GLH
  • ESID Registry 20171117
  • Expert Review Green
  • NHS GMS
  • North West GLH
  • London North GLH
  • Expert Review Green
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • SCID v1.6
Phenotypes
  • Immunodeficiency 10, 612783
  • Combined immunodeficiency due to STIM1 deficiency ORPHA:317430
  • Combined immunodeficiency
  • Combined immunodeficiency due to STIM1 deficiency
  • Autoimmunity, EDA, non-progressive myopathy
  • T-B+ SCID
  • Combined immunodeficiencies with associated or syndromic features
Green STIM1 in Inherited bleeding disorders

Level 3: Haemostasis disorders
Level 2: Haematological and immunological disorders
Version 1.182

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • BRIDGE Study Tier 1 Gene
Phenotypes
  • Stormorken syndrome 185070
Tags
  • missense
Green STIM1 in Primary immunodeficiency or monogenic inflammatory bowel disease


Level 2: Immunology
Version 8.78
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
  • NHS GMS
  • North West GLH
  • London North GLH
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
  • SCID v1.6
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
Green STIM1 in Arthrogryposis


Level 2: Neurology
Version 9.24
Latest signed off version: v9.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert
  • UKGTN
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Myopathy, tubular aggregate, 160565
  • Stormorken syndrome 185070
Tags
  • missense
Green STIM1 in Congenital myopathy


Level 2: Neurology
Version 6.45
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • London South GLH
    • Expert Review Green
    • Expert
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Myopathy, tubular aggregate, 1, OMIM:160565
    Tags
    • missense
    Green STIM1 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies


    Level 2: Neurology
    Version 5.29
    Latest signed off version: v5.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Yorkshire and North East GLH
    • NHS GMS
    • Expert Review
    Phenotypes
    • Myopathy, tubular aggregate, 1, 160565
    Green STIM1 in Bleeding and platelet disorders


    Level 2: Haematology
    Version 4.6
    Latest signed off version: v4.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • North West GLH
    • Yorkshire and North East GLH
    • London South GLH
    • NHS GMS
    • Expert Review Green
    • Wessex and West Midlands GLH
    Phenotypes
    • 185070 Stormorken syndrome
    Amber STIM1 in Cytopenia - NOT Fanconi anaemia


    Level 2: Haematology
    Version 4.32
    Latest signed off version: v4.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Expert review Amber
    • North West GLH
    • Yorkshire and North East GLH
    • Wessex and West Midlands GLH
    • NHS GMS
    • London South GLH
    Phenotypes
    • Stormorken syndrome, 185070
    Red STIM1 in Non-syndromic familial congenital anorectal malformations

    Level 3: Gastrointestinal disorders
    Level 2: Gastroenterological disorders
    Version 1.14

    		review Not set
    Sources
    • Literature
    Phenotypes
    • anorectal malformation
    Green STIM1 in Amelogenesis imperfecta


    Level 2: Musculoskeletal
    Version 4.30
    Latest signed off version: v4.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Eligibility statement prior genetic testing
    Phenotypes
    • Immunodeficiency 10, 612783
    Amber STIM1 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Amber
    Phenotypes
    • Myopathy, tubular aggregate, OMIM:160565
    • Immunodeficiency 10, OMIM:612783
    • Stormorken syndrome, OMIM:185070
    Red STIM1 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • TUBULAR-AGGREGATE MYOPATHY 160565