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19 Possible Causes for Mutation in the STIM1 Gene

  • Tubular Aggregate Myopathy

    Some cases appear to be due to dominant mutations in the STIM1 gene. Source: Genetic and Rare Diseases Information Center (GARD), supported by ORDR-NCATS and NHGRI.[diseaseinfosearch.org] gene.[familydiagnosis.com] Recently, dominant mutations in the STIM1 gene, encoding a Ca(2 ) sensor that controls CRAC channels, have been identified to cause tubular aggregate myopathy (TAM).[ncbi.nlm.nih.gov]

  • Anal Stenosis

    YPS is caused by a channelopathy in the Ca 2 -selective release-activated Ca 2 channel due to a gain-of-function mutation in the stromal interaction molecule 1 gene ( STIM1[consultant360.com]

  • Rectal Stenosis

    YPS is caused by a channelopathy in the Ca 2 -selective release-activated Ca 2 channel due to a gain-of-function mutation in the stromal interaction molecule 1 gene ( STIM1[consultant360.com]

  • Limb-Girdle Muscular Dystrophy

    Common causes of phenotypic overlap were due to mutations in congenital muscular dystrophy-related genes (4 families) and collagen myopathy-related genes (4 families).[ncbi.nlm.nih.gov] […] myopathy (FLNC), and mutation of CHD7, usually associated with the CHARGE syndrome.[ncbi.nlm.nih.gov] Less common myopathies included metabolic myopathy (2 families), congenital myasthenic syndrome (DOK7), congenital myopathy (ACTA1), tubular aggregate myopathy (STIM1), myofibrillar[ncbi.nlm.nih.gov]

  • Autosomal Dominant Limb-Girdle Muscular Dystrophy Type 1H

    Mutations in the gene encoding lamin A/C cause autosomal dominant Emery-Dreifuss muscular dystrophy. Nat Genet. 1999; 21:285-288.[pathologycenter.jp] Constitutive activation of the calcium sensor STIM1 causes tubular-aggregate myopathy 1. Am J Hum Genet. 2013; 92:271-278. Bonne, G, Di Barletta, MR, Varnous, S, et al.[pathologycenter.jp]

  • Paramyotonia Congenita

    Specificity 2 % Genes 100 % Myasthenic syndrome due to mutation in SCN4A.[mendelian.co] Specificity 2 % Genes 100 % Invitae Myotonia and Paramyotonia Congenita Panel.[mendelian.co] CLCN1, SCN4A Specificity 50 % Genes 100 % Hyperkalemic periodic Paralysis: SCN4A gene mutation analysis (L6891, I693T, T704M, A1156T, M1360V, 1495F, M1592V, F1490L, M1493I[mendelian.co]

  • X-Linked Severe Combined Immunodeficiency

    In rare AR T B NK SCID patients has been identified a SOCE-CRAC defect, caused by mutations in genes encoding two highly conserved proteins: ORAI1 (subunit forming pores in[doi.org] CRAC; its name comes from ORAI, the three sisters of Greek mythology), and STIM1 (stromal interaction molecule-1; it is the sensor of Ca 2 levels in ER and the activator[doi.org]

  • Neutrophil Immunodeficiency Syndrome

    ., 2009, STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity, The New England Journal of Medicine. 360:1971-80.[genedx.com] Picard C et al., 2009, STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity, The New England Journal of Medicine. 360:1971-80.[genedx.com] Forms and Documents Test Details Genes: Expand Genes ADA, AK2, ATM, CD3D, CD3E, CD3Z, CORO1A, DCLRE1C (ARTEMIS), DOCK8, FOXN1, IL2RG, IL7R, JAK3, LIG4, NHEJ1, ORAI1, PNP,[genedx.com]

  • Hyper-IgM Syndrome with Susceptibility to Opportunistic Infections

    […] of various transcription factors); PNP, purine nucleoside phosphorylase; RAG, recombinase activating gene; STIM1, stromal interaction molecule 1.)[clinicalgate.com] […] kinase catalytic subunit; IL-7R, interleukin 7 receptor; JAK3, janus-associated kinase 3; LIG4, DNA ligase IV; MHC II, major histocompatibility class II antigens (due to mutation[clinicalgate.com]

  • Purine-Nucleoside Phosphorylase Deficiency

    ., 2009, STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity, The New England Journal of Medicine. 360:1971-80.[genedx.com] Picard C et al., 2009, STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity, The New England Journal of Medicine. 360:1971-80.[genedx.com] Forms and Documents Test Details Genes: Expand Genes ADA, AK2, ATM, CD3D, CD3E, CD3Z, CORO1A, DCLRE1C (ARTEMIS), DOCK8, FOXN1, IL2RG, IL7R, JAK3, LIG4, NHEJ1, ORAI1, PNP,[genedx.com]

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