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/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 https://blog.ambrygen.com/ambry/post/406/the-gene-scene-col3a1 In this week's Gene Scene, Grant Bonesteele, MS, CGC, spotlights COL3A1and its association with Ehlers-Danlos Syndrome and Multiple Congenital Anomalies Syndrome. Tue, 11 Nov 25 06:16:00 -0800 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/405/the-gene-scene-palb2 The Gene Scene covers PALB2 and its association with prostate, breast, ovarian and other cancers and genetic predisposition to other conditions. Tue, 04 Nov 25 05:50:00 -0800 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/404/the-gene-scene-dsp The Gene Scene covers DSP and its link to cardiomyopathy with Sarah Kreykes, MS, CGC. Tue, 28 Oct 25 09:00:00 -0700 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/400/the-gene-scene-msh2 The Gene Scene covers MSH2 and associated Lynch syndrome diagnoses. Tue, 21 Oct 25 06:40:00 -0700 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/399/the-gene-scene-cdkn2a The Gene Scene covers CDKN2A. Pathogenic variants can cause melanoma-pancreatic cancer syndrome. Tue, 14 Oct 25 05:31:00 -0700 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/396/the-gene-scene-ldlr The Gene Scene covers LDLR and its effect on hypercholesterolemia Tue, 07 Oct 25 09:38:00 -0700 Ambry Genetics Ambry Blog https://blog.ambrygen.com/ambry/post/395/the-gene-scene-fbn1 This installment of The Gene Scene covers the FBN1 gene (NM_000138.4). Pathogenic variants in this gene are known to cause Marfan syndrome and other conditions. Tue, 23 Sep 25 09:07:00 -0700 Ambry Genetics Ambry Blog