STIM1

stromal interaction molecule 1
OMIM: 605921, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green STIM1 in COVID-19 research Level 2: Viral research Version 1.142	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 Other rare neuromuscular disorders Version 19.202 Latest signed off version: v19.1 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Myopathy, tubular aggregate, 160565
Green STIM1 in Inherited bleeding disorders Level 3: Haemostasis disorders Level 2: Haematological and immunological disorders Version 1.178	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 Version 4.202 Latest signed off version: v4.0 (22 Mar 2023)	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 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 5.31 Latest signed off version: v5.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Radboud University Medical Center, Nijmegen Expert UKGTN Phenotypes Myopathy, tubular aggregate, 160565 Stormorken syndrome 185070 Tags missense
Green STIM1 in Congenital myopathy Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.37 Latest signed off version: v4.0 (22 Mar 2023) 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 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.32 Latest signed off version: v4.0 (22 Mar 2023) 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 Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	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 Version 3.33 Latest signed off version: v3.0 (22 Mar 2023)	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 1.9	review	Not set	Sources Literature Phenotypes anorectal malformation
Green STIM1 in Amelogenesis imperfecta Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 3.3 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Eligibility statement prior genetic testing Phenotypes Immunodeficiency 10, 612783
Red STIM1 in DDG2P Version 3.88 Latest signed off version: v3.1 (22 Mar 2023) 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
Green STIM1 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Immunodeficiency 10, 612783 Stormorken syndrome, 185070 Myopathy, tubular aggregate, 1, 160565