https://blog.ambrygen.com/list/tag/Gene%20Scene Find the latest Ambry Genetics news by tag: Gene Scene en https://blog.ambrygen.com/list/tag/Gene%20Scene https://blog.ambrygen.com/assets/img/logo/Ambry_logo_web.jpg https://blog.ambrygen.com/ambry/post/445/the-gene-scene-ryr2 Haley Streff, MS, CGC, explores ventricular arrhythmias, including catecholaminergic polymorphic ventricular tachycardia (CPVT) and calcium release deficiency syndrome (CRDS), associated with variants in the RYR2 gene. Tue, 19 May 26 06:11:00 -0700 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/441/the-gene-scene-sdhb In this Gene Scene, Jewel Wasson, MS, CGC, explores the SDHB gene and its association with SDHB-related Hereditary Pheochromocytoma-Paraganglioma and SDHB-related Mitochondrial Complex II Deficiency. Tue, 12 May 26 07:41:00 -0700 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/440/the-gene-scene-mybpc3 Connolly Steigerwald explores the MYBP3 gene. Pathogenic variants in this gene have been associated with a spectrum of MYBPC3-related cardiomyopathies, including hypertrophic cardiomyopathy (HCM) and left ventricular noncompaction cardiomyopathy (LVNC), Tue, 05 May 26 05:31:00 -0700 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/442/the-gene-scene-ryr1 Each week, we explore a gene from the ACMG Secondary Findings list. Learn about the RYR1 gene and related pathogenic variants Tue, 28 Apr 26 09:22:00 -0700 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/438/the-gene-scene-tmem127 Sarah Campian, MS, CGC, explores the TMEM127 gene and TMEM127-related hereditary pheochromocytoma-paraganglioma (PCC-PGL) in this Gene Scene covering a clinically actionable gene from the ACMG Secondary Findings List Tue, 21 Apr 26 06:32:00 -0700 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/437/the-gene-scene-hpdl Charlie King, MS, CGC, explores the HPDL gene and associations with related neurological disorders. Emerging treatments have impacted some patients diagnosed with an HPDL-related neurological disorder. Tue, 14 Apr 26 06:46:00 -0700 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/434/the-gene-scene-gaa Explore the clinical implications of variants of the GAA gene, which are known to cause glycogen storage disease type II, commonly known as Pompe disease, which is inherited in an autosomal recessive fashion. Tue, 07 Apr 26 06:24:00 -0700 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/432/the-gene-scene-smad4 Rachel Bluebond explores SMAD4 and its associated conditions of juvenile polyposis syndrome (JPS) and Myhre syndrome. Tue, 24 Mar 26 06:15:00 -0700 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/430/the-gene-scene-casq2 The Gene Scene covers CASQ2 from the ACMG Secondary Findings list and it's link to CASQ2-related catecholaminergic polymorphic ventricular tachycardia (CPVT). Tue, 17 Mar 26 06:37:00 -0700 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/428/the-gene-scene-calm2 In this Gene Scene, Katherine Crawford covers gene-disase validity in the CALM2 gene leading CALM2–related calmodulinopathy with clinical considerations for genetic counselors. Tue, 10 Mar 26 06:19:00 -0700 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/427/the-gene-scene-rb1 Caitlin Reid, MS, LGC, explores RB1 and its association with RBI-related retinoblastoma in this weekly snapshot of clinically actionable genes from the ACMG Secondary Findings List Tue, 03 Mar 26 06:53:00 -0800 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/423/the-gene-scene-rpe65 Brooke Sample, MS, CGC, covers he RPE65 gene, which is critical for the "visual cycle"—the process of regenerating light-sensitive pigments in the eye. Mutations in this gene cause RPE65-related retinopathies which vary in severity and age of onset. Tue, 17 Feb 26 06:00:00 -0800 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/422/the-gene-scene-lmna This Gene Scene covers pathogenic variants in LMNA, which are associated with more than 10 distinct disorders with high clinical variability, referred to as the laminopathies. Tue, 10 Feb 26 07:14:00 -0800 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/421/the-gene-scene-bmpr1a Caitlin Reid, MS, LGC, explores the BMPR1A gene and its connection to juvenile polyposis syndrome (JPS). Tue, 03 Feb 26 07:58:00 -0800 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/420/the-gene-scene-kcnh2 This Gene Scene covers pathogenic variants in KCNH2, known to cause KCNH2-related long QT syndrome and KCNH2-related short QT syndrome Tue, 27 Jan 26 08:31:00 -0800 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/418/the-gene-scene-apob In this Gene Scene, Haley Streff, MS, CGC, covers the APOB gene and its association with familial hypercholesterolemia. Tue, 20 Jan 26 07:44:00 -0800 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/419/the-gene-scene-max Jessica Scott, MS, CGC, joins us in the Gene Scene to discuss MAX-related hereditary paraganglioma-pheochromocytoma and MAX-related multiple congenital anomalies syndrome. Tue, 13 Jan 26 08:14:00 -0800 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/417/the-gene-scene-runx1 Frankie Fann explores RUNX1 and its association with Familial Platelet Disorder with Associated Myeloid Malignancies in this Gene Scene. Tue, 06 Jan 26 06:22:00 -0800 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/416/the-gene-scene-ret Katherine Crawford, MS, GCG, covers the RET gene and its association with Multiple Endocrine Neoplasia and other diseases. Tue, 30 Dec 25 06:00:00 -0800 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/415/the-gene-scene-tgfbr2 Connolly Steigerwald, MS, CGC, joins us in the Gene Scene to explore TGFBR2-related Loeys-Dietz syndrome. Tue, 23 Dec 25 06:07:00 -0800 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/412/the-gene-scene-kcnq1 The Gene Scene explores KCNQ1-related long QT Syndrome (LQTS), including autosomal dominant LQTS1, autosomal-recessive LQTS1 (AR-LQTS), and Jervell and Lange-Nielsen syndrome (JLNS) Tue, 16 Dec 25 06:08:00 -0800 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/411/the-gene-scene-men1 The Gene Scene explores the gene-disease validity of MEN1. Pathogenic variants in this gene are known to cause multiple endocrine neoplasia type 1 (MEN1) and MEN1-related familial isolated hyperparathyroidism (FIHP). Tue, 09 Dec 25 06:46:00 -0800 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/409/the-gene-scene-folr1 In this Gene Scene, Margo Gallegos, MS, CGC, discusses FOLR1, its link to cerebral folate transport deficiency, and new FDA statements about treating patients with autism. Tue, 02 Dec 25 13:10:00 -0800 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/408/the-gene-scene-gla The Gene Scene covers the GLA gene and its association with Fabry disease. Tue, 25 Nov 25 06:20:00 -0800 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/407/the-gene-scene-acta2 The Gene Scene covers ACTA2. Pathogenic alterations in this gene have been associated with ACTA2-related vascular disorders, including familial thoracic aortic aneurysms and dissections (TAAD) and multisystemic smooth muscle dysfunction syndrome (MSMDS). Tue, 18 Nov 25 06:44:00 -0800 Ambry Genetics Ambry Blog