STIM1

stromal interaction molecule 1
OMIM: 605921, ClinGen, DECIPHER

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green STIM1 in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.416	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myopathy, tubular aggregate, 1 160565 Stormorken syndrome 185070
Green STIM1 in Bleeding and Platelet Disorders Level 2: Haematological disorders Version 1.52	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert list Phenotypes Stormorken syndrome, MIM# 185070
Green STIM1 in Mendeliome Version 1.2302	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Immunodeficiency 10 612783 Myopathy, tubular aggregate, 1 160565 Stormorken syndrome 185070
Green STIM1 in Muscular dystrophy and myopathy_Paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.85 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Expert Review Green Phenotypes tubular aggregate myopathy MONDO:0008051
Green STIM1 in Combined Immunodeficiency Level 2: Immunological disorders Version 1.114 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Immunodeficiency 10, MIM# 612783
Green STIM1 in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 1.42 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Expert Review Phenotypes Myopathy, tubular aggregate, 1 (MIM#160565) Stormorken syndrome (MIM#185070)
Green STIM1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.109	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency 10, 612783 (3)
Green STIM1 in Stroke Level 2: Neurology and neurodevelopmental disorders Version 1.16	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Stormorken syndrome, MIM# 185070
Green STIM1 in Amelogenesis imperfecta Level 2: Skeletal disorders Version 1.11	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Genomics England PanelApp Phenotypes Immunodeficiency 10, MIM# 612783 Hypomineralised amelogenesis imperfecta
Green STIM1 in Fetal anomalies Version 1.313	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature Expert list Phenotypes Immunodeficiency 10 - #612783 Myopathy, tubular aggregate, 1 - #160565 Stormorken syndrome - #185070
Green STIM1 in Prepair 1000+ Level 2: Screening Version 1.1566	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Immunodeficiency 10, 612783 (3)
Green STIM1 in BabyScreen+ newborn screening Level 2: Screening Version 1.116	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Immunodeficiency 10 MIM612783 Tags treatable immunological
Green STIM1 in Transplant Co-Morbidity Superpanel Level 2: Screening Version 0.18	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert list Expert Review Green Phenotypes Stormorken syndrome, MIM# 185070