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#11. PKP2 Gene - GeneCards | PKP2 Protein | PKP2 Antibody

Complete information for PKP2 gene (Protein Coding), Plakophilin 2, including: function, proteins, disorders, pathways, orthologs, and expression.

#12. ARVC - Arrhythmogenic Right Ventricular Cardiomyopathy

GeneReviews online clinical ... have mutations in the DSP, PKP2, DSG2,. DSC2 or TMEM43 gene. Many cases of ... one copy of the defective DSP, PKP2,.

#13. Arrhythmogenic cardiomyopathy

The most commonly defective AC gene is PKP2 (10–45 %), followed by DSP (10–15 %), DSG2 (7–10 %) and DSC2, JUP (1–2 %).

#14. Plakophilin-2 - Wikipedia

Plakophilin-2 is a protein that in humans is encoded by the PKP2 gene. Plakophilin 2 is expressed in skin and cardiac muscle, where it functions to link ...

#15. Arrhythmia Panel - GeneDx

... and excluding exon 6 of the PKP2 gene and the following genomic ... PKP2. PLAKOPHILIN 2. AD. ARVC, BrS. PLN. PHOSPHOLAMBAN ... GeneReviews®. [Internet].

#16. Print Test - Arrhythmogenic Right Ventricular Cardiomyopathy

Test Code: · Department: Molecular Genetics · Test Synonyms: ARVC • Ventricular Arrhythmia • DSC2 • DSG2 • DSP • JUP • LMNA • MYBPC3 • MYH7 • PKP2 • RYR2 • TGFB3 ...

#17. Clinical and genetic issues in dilated cardiomyopathy - Nature

In ARVD/C, three genes, PKP2 (plakophilin 2), DSP (desmoplakin), and DSG2 ... In: GeneReviews at GeneTests: Medical Genetics Information ...

#18. Genetic Testing for Arrhythmogenic Right Ventricular ... - eviCore

ventricular involvement and PKP2 mutations more frequently associated with ventricular tachycardia.4 ... In GeneReviews at GeneTests: Medical Genetics.

#19. Arrhythmogenic right ventricular dysplasia 1 (Concept Id - NCBI

Excerpted from the GeneReview: Arrhythmogenic Right Ventricular Cardiomyopathy ... caused by mutation in the PKP2 gene (602861) on chromosome 12p11; ...

#20. Genetic Testing for Hereditary Cardiomyopathies and ... - Cigna

pathogenic variant of the condition in question (GeneReviews, 2017, 2016, 2015, ... Comprehensive or targeted (DSC2, DSG2, DSP, JUP, PKP2, and TMEM43) ...

#21. Genetics of Arrhythmogenic Right Ventricular Dysplasia ...

How does a genetic mutation cause ARVD/C? · Plakophilin-2 (PKP2) · Desmoglein-2 (DSG2) · Desmocollin-2 (DSC2) · Desmoplakin (DSP) · Plakoglobin (JUP).

#22. Rare Variants in Genes Associated With Cardiomyopathy Are ...

... well-known disease genes based on curated gene reviews and variant databases ... Recently, a homozygous truncating variant in PKP2, ...

#23. Genetic testing in four Indian families with suspected Stick...

In family III, c.2489+1G>A in PKP2 gene was identified as secondary mutation in heterozygous state. Germline pathogenic variations in the PKP2 gene have been ...

#24. Plakophilin-2 truncating variants impair cardiac contractility by ...

Truncating variants in the PKP2 gene represent 70 to 90% of all PKP2 ... in GeneReviews [Internet] (University of Washington, 2017).

#25. Genetics of inherited cardiocutaneous syndromes: a review

PKP2 is the only PKP present in cardiac tissue.1 2 ... RA, Adam MP, Ardinger HH. in GeneReviews(R). et al eds. Seattle,.

#26. Cardiomyopathy and Arrhythmia Panel, Sequencing and ...

Commonly implicated genes include PKP2, DSP, DSG2. BrS. Cardiac conduction abnormalities that can ... GeneReviews, University of Washington; 1993-2022.

#27. Sudden death - Breda Genetics srl

Nowadays, the known genes are TGFB3, RYR2, TMEM43, DSP, PKP2, DSG2, DSC2, JUP. Hypertrophic cardiomyopathy (HCM)

#28. Arrhythmogenic Right Ventricular Cardiomyopathy NGS Panel

... KCNE1, KCNE2, KCNE3, KCNH2, KCNJ2, KCNJ5, KCNJ8, KCNQ1, LDB3, LMNA, NKX2-5, PDLIM3, PKP2, PLN, PRKAG2, RANGRF, RBM20, RYR2, ... GeneReviews® [Internet].

#29. Incidentally identified genetic variants in arrhythmogenic right ...

PKP2 ARM7 and ARM8 domains and DSG2 N-terminal cadherin-repeat domains demonstrated high pathogenicity while normalized WES variant frequency ...

#30. Diagnostic test: CARDIOPATIE ARITMOGENE

PKP2. 602861. Arrhythmogenic right ventricular cardiomyopathy. GeneReview ... GeneReviews = McNally E, MacLeod H, Dellefave-Castillo L. Arrhythmogenic Right ...

#31. Arrhythmogenic Right Ventricular Cardiomyopathy/Dysplasia

Investigations looking at the clinical and genetic characterization of ARVC/D to understand the penetrance associated with PKP2 mutations, as ...

#32. Brugada syndrome and Inheritance patterns and ARVC or AC ...

2016) In GeneReviews at GeneTests: Medical Genetics Information ... Cardiomyopathy in a Carrier of a Brugada-Syndrome-Associated PKP2 ...

#33. 451422: GeneSeq®: Cardio-Familial Cardiomyopathy Profile

Facilitate appropriate genetic counseling for family members. References. Cirino AL, Ho C. Familial hypertrophic cardiomyopathy overview. [GeneReviews Web site] ...

#34. Background - PLOS

(Arg1305Gln)) - 0.981 D/DC/PD/N IP VUS 9 #00028984 PKP2 c . 1781T>C (p . ... A second variant considered deleterious, PKP2 (p. ... GeneReviews [Internet].

#35. Naxos Disease (NXD) - MalaCards

PKP2. Plakophilin 2, Protein Coding, 19.36. DISEASES inferred. Novoseek inferred 53 ... 24 GeneReviews. 25 GenomeRNAi. 26 GEO DataSets.

#36. Renovacor Announces Pipeline Expansion with New ...

... for the three largest genetic segments of ACM: plakophilin-2 (PKP2), ... McNally E (2017) in: Adam MP, Mirzaa GM, Pagon RA, GeneReviews® ...

#37. G790del mutation in DSC2 alone is insufficient to develop the ...

Several desmosomal genes (DSC2, PKG, PKP2, DSP, and RyR2) are thought to be the causative gene involved in ARVC. Out of them, DSC2 mutations ...

#38. Arrhythmogenic Right Ventricular Cardiomyopathy

Gene mutations have been found in about 60 percent of people with ARVC. Mutations in a desmosomal gene called PKP2 appear to be most common. In people without ...

#39. Multi-Gene Panels | ARUP Laboratories

Test # Test Name Additional Information 3001585 Early‑Onset Alzheimer's Panel, Sequencing Additional Technical Information 3003947 Loeys‑Dietz Syndrome Core Panel, Sequencing Additional Technical Information... 3003917 Distal Arthrogryposis Panel, Sequencing Additional Technical Information

#40. Putative role of Brugada syndrome genes in familial atrial ...

CTNNA3, PKP2, ANK2 and SCN10A genes with. FAF; it is also the first study in ... PKP2. Plakophilin-2. Arrhythmogenic right ventricular dysplasia 9 (609040).

#41. Hypertrophic Cardiomyopathy panel - Genetics Laboratory

... MYL3, SGCD, SHOC2, SPRED1, TNNC1, TNNI3, TPM1, BRAF, DSC2, DSG2, DSP, LDB3, LMNA, MAP2K1, MAP2K2, PKP2, PRKAG2, PTPN11, ... GeneReviews® [Internet].

#42. Merged Actionability Release - Clinical Genome Resources

PKP2 ⇔0012180 (arrhythmogenic right ventricular dysplasia 9) ... studies indicated that ARVC due to a desmosomal gene variants (e.g., PKP2, DSP, DSG2, DSC2, ...

#43. Arrhythmogenic Right Ventricular Dysplasia/Cardiomyopathy ...

coding region):, CTNNA3, DES, DSC2, DSG2, DSP, JUP, LDB3, LMNA, PKP2, PLN, RYR2, TGFB3, TMEM43, TTN. List of diseases covered by the panel ...

#44. Predicting Arrhythmia Risk in Dilated Cardiomyopathy Using ...

The cohort contained DCM patients with mutations in DSC2, DSG2, DSP, and PKP2, which encode the desmosome, a specialized cell-to-cell ...

#45. Hereditary Heart Health Genetic Test

PKP2, TNNI3, TNNT2, and TPM1 genes account for ... variants in the DSC2, DSG2, DSP, LMNA, PKP2 and ... Disease Overview. in GeneReviews® (eds.

#46. Test Definition: CCMGP - Mayo Clinic Laboratories

PKP2. Plakophilin 2 ... GeneReviews [Internet]. University of Washington, Seattle; 2007. Updated July 29, 2021. Accessed September 21, 2021.

#47. actionability_application_release - GenboreeKB

In a study of 35 PKP2 mutation carriers among 9 unrelated families (including probands) 49% met criteria for ARVD. Excluding probands, 31% were clinically ...

#48. Arrhythmogenic Cardiomyopathy: Molecular Insights ... - MDPI

Overall, loss of full length PKP2 results in major cardiac defects leading to ACM. ... In GeneReviews® ; University of Washington: Seattle, WA, USA, 2017.

#49. Outcomes of Cardiac Screening in Adolescent Soccer Players

GeneReviews. April 18, 2005 (updated May 25, 2017) (https://www.ncbi.nlm.nih.gov/books/NBK1131/. opens in new tab).

#50. Arrhythmogenic Cardiomyopathy Multi-Gene Panel, Blood

PKP2. Plakophilin 2. AD. ARVC. RYR2. Ryanodine receptor 2. AD. ARVC, CPVT, LQTS ... GeneReviews [Internet]. University of Washington, Seattle; 2005.

#51. Two Novel Variants in Genes of Arrhythmogenic Right ...

It is caused by pathogenic variants of genes encoding desmosomal (JUP, DSP, PKP2, DSG2, DSC2) and non-desmosomal proteins, and is one of the most common ...

#52. CG-GENE-23 Genetic Testing for Heritable Cardiac Conditions

PKP2. ARVC. Disease-causing mutations seen in at least 50% of ARVC probands. ... Gene Reviews. Last updated June 6, 2019.

#53. Arrhythmia Panel - Blueprint Genetics

PKP2 #*, Arrhythmogenic right ventricular dysplasia, AD, 150, 289 ... GeneReviews - ARVC · GeneReviews - Brugada Syndrome · GeneReviews - Long QT Syndrome ...

#54. Genetic predisposition study of heart failure and its ...

Variants induce ARVC in genes that code for desmosomal proteins in almost 50% of all cases. Plakophilin 2 (PKP2) gene mutations are prevalent [ ...

#55. Application of Multigene Panel Sequencing in Patients with ...

GeneReviews (R). Seattle (WA), University of Washing- ton, 1993, 1993-2017. 2. Giudicessi JR and Ackerman MJ. ... PKP2. NM_004572.3. ARVC. PLB1. NM_153021.4.

#56. HALOPLEX DISEASE RESEARCH PANELS

PKP2. MYBPC3. LMNA. DSG2. TNNT2. SGCD. DSC2. ACTC1. VCL. TMEM43. TNNI3. LDB3. JUP. TPM1. HaloPlex Cancer Gene List. Targeting solid tumors, hematological.

#57. Laboratory Service Report

(www.genereviews.org) for this specific gene/disorder. Next Generation Sequencing may not detect all types of genetic variants.

#58. Validation of the PARVA c.392A>T variant in a South African

3.4.2 Identification of the PKP2 c.1162C>T founder mutation . ... Figure 3.7: Image of PKP2 mutation at exon 4 . ... GeneReviews(R).

#59. HALOPLEX DISEASE RESEARCH PANELS - Agilent

available from GeneReviews, an NIH online resource, 34 genes known to be associated with hypertrophic cardiomyopathy, dilated cardiomyopathy ...

#60. MicroRNAs: From Junk RNA to Life Regulators and Their Role ...

HCN, JPH, PKP2. miR-135b ... tions in the desmosome genes PKP2 (encoding plakofilin 2), DSG2 (encoding desmoglein ... In GeneReviews®; Adam,.

#61. Genetic Testing for Cardiac Disease - UHCprovider.com

least 5 cardiomyopathy-related genes (e.g., DSG2, MYBPC3, MYH7, PKP2, TTN). 81479. Unlisted molecular pathology procedure.

#62. Incidentally identified genetic variants in arrhythmogenic right

calizing to critical domains of PKP2 and DSG2 while WES variants did ... Bean, K. Stephens, & A. Amemiya (Eds.), GeneReviews® [Internet].

#63. Searching in Data Sources - scicrunch

Ser140Phe) · PKP2 · Dysplasia, arrhythmogenic right ventricular, MedGen, Single nucleotide variant, Likely benign, Uncertain significance, GRCh38 ...

#64. ACMG 73 Genes - Coriell Institute

Disease Phenotype GeneReviews PMID for Phenotype Gene and OMIM... Hereditary breast and ovarian cancer 20301425 BRCA1; 113705 Hereditary breast and ovarian cancer 20301425 BRCA2; 600185 Hereditary breast and ovarian cancer 20301425 PALB2; 610355

#65. Genetic Testing - Medical Clinical Policy Bulletins - Aetna

Testing for sequence variants in the DSG2, DSP, and PKP2 genes in ... The GeneReviews' webpage on “Genetic atypical hemolytic-uremic syndrome” (Noris et al, ...

#66. Diagnostic yield of genetic testing in heart transplant ...

GeneReviews is a registered trademark of the University of Washington, Seattle. All rights reserved.; 1993. View in Article.

#67. Genetic Testing for Hereditary Cardiac Disease

MYBPC3, MYH7, PKP2, and TTN). Codes that do not meet medical necessity criteria: 0237U Cardiac ion channelopathies (eg, Brugada syndrome, long QT syndrome, ...

#68. Arrhythmogenic Right Ventricular Cardiomyopathy - My46

These genes are: DSC2, DSG2, DSP, JUP, PKP2, RYR2, TGFB3 and TMEM43. ... Autosomal Dominant In: GeneReviews at GeneTests Medical Genetics Information ...

#69. ACMG SF v3.0 list for reporting of secondary findings in ...

GeneReviews, and PubMed, as well as the expertise of the subgroup. Technical issues of sequencing the genes were reviewed with relevant members of the SFWG.

#70. Plakophilin-2 - Wikiwand

Plakophilin-2 is a protein that in humans is encoded by the PKP2 gene.[5][6] Plakophilin 2 is expressed in skin and cardiac muscle, where it functions to ...

#71. MEDICAL POLICY - GENETIC TESTING FOR ...

Arrhythmogenic Right Ventricular. Dysplasia/Cardiomyopathy, Autosomal Dominant. In: Pagon RA, Bird TD, Dolan CR, et al., editors. GeneReviews™ [ ...

#72. Left Ventricular Noncompaction

PKP2. Plakophilin 2. 602861. AR. X. X. 2 siblings from consanguineous parents (59) ... GeneReviews. Seattle, WA: Univer- sity of Washington, Seattle, 1993.

#73. 不整脈原性右室心筋症 - MGenReviews

GeneReviews. Arrhythmogenic Right Ventricular Cardiomyopathy. 指定難病等. なし. ガイドライン等. 2009-2010年度合同研究班報告. 要注意の転帰. 心臓突然死.

#74. Cardiac conduction defects - Mattioli Journals

PKP2. 602861. BrS. /. AD. Maintains transcription of genes that control intracellular calcium cycling ... netics Home Reference (11), GeneReviews (13) and.

#75. Keratin 6B - wikidoc

Mol. Genet. 7 (7): 1143–8. doi:10.1093/hmg/7.7.1143. PMID 9618173. External links. GeneReviews/NCBI/NIH/UW entry on Pachyonychia Congenita ...

#76. LifeLabs Genetics

GeneReviews ®. [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2016. 2. Boodhwani et al. Canadian Cardiovascular Society Position Statement ...

#77. Sheet1

9, PKP2, Arrhythmogenic Right Ventricular Dysplasia, 0.001, 0.4, 0.43, 0.00054 ... sources such as Gene Reviews (http://www.ncbi.nlm.nih.gov/books/NBK1116/) ...

#78. Assessment of HaloPlex Amplification for Sequence Capture ...

Point mutations located in protein-coding sequences of PKP2, ... Edited by RA Pagon, MP Adam, HH Ardinger, et al, In GeneReviews [Internet].

#79. ClearSeq Halo DISEASE RESEARCH PANELS

information available from GeneReviews, an NIH online resource, 34 genes known to be associated with hypertrophic cardiomyopathy, dilated cardiomyopathy,.

#80. Phenotypic Variability in iPSC - Axion Biosystems

Cardiomyopathy” in GeneReviews(R). eds. M. P. Adam, H. H. Ardinger, R. A. ... mutation in PKP2 (c.1799delA). Stem Cell Res.

#81. Arrhythmogenic Right Ventricular Dysplasia in Neuromuscular ...

PKP2, Plakophilin-2, ARVD9, Brugada syndrome, 338 al§, 31, 62, 63 ... desmocollin-2; NRC, number of so far reported cases; PKP2, plakophilin-2; TMEM43, ...

#82. Genetics and pharmacogenetics in the diagnosis and therapy ...

PLEKHM2, PKP2. (53,54, 69-77). Restrictive cardiomyopathy. TNNT2, TNNI3 ACTC1, MYH7, MYBPC3, MYPN, TPM1,. MYL1, MYL2, FLNC. (78-81) ...

#83. Genetic basis of channelopathies and cardiomyopathies in ...

Finally, three patients with ARVD/C had PKP2 mutations (cases 25-27) and one had a DSP mutation (case ... Seattle (WA): GeneReviews; 1993.

#84. Genetic Testing for Hereditary Cardiac ... - AIM Specialty Health

must include sequencing of at least 5 genes, including DSG2, MYPBC3, MYH7, PKP2, and TTN. Background ... GeneReviews®. [Internet].

#85. Arrhythmogenic right ventricular cardiomyopathy - ThinkGenetic

Arrhythmogenic Right Ventricular Cardiomyopathy. 2005 Apr 18 [Updated 2017 May 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet] ...

#86. Variants studied for Dilated cardiomyopathy 1A - ClinVar Miner

Submitter pathogenic likely pathogenic uncertain... Illumina Laboratory Services,Illumina 0 1 31 OMIM 10 0 0 Genetic Services Laboratory,University of Chicago 3 3 0

#87. KCNE5 (Short QT syndrome) - Gene

... KCNJ8 2 · LRP5 1 · NOS1AP 1 · PKP2 2 · RANGRF 1 · RYR2 1 · SCN10A 2 · SCN1B 1 · SCN2B 0 · SCN3B 1 · SCN4B 1 · SLC22A5 7 · SLMAP 0 · SNTA1 1 · TRPM4 1.

#88. PHACE Syndrome - National Organization for Rare Disorders

If sternal anomalies are present, sometimes the term PHACES syndrome is used, with (S) standing for (S)ternal anomalies. The disorder occurs with much greater ...

#89. A CASE REPORT: PKP2 GENE C.1592T>G VARIATION IN ...

A CASE REPORT: PKP2 GENE C.1592T>G VARIATION IN HOMOZYGOUS FORM IDENTIFIED IN ARRHYTHMOGENIC RIGHT VENTRICULAR DYSPLASIA PATIENT.

#90. New frameshift mutation found in PKP2 gene in ...

Next Generation Sequencing, new frame shift mutation, PKP2 gene, Russian family. Introduction. Arrhythmogenic right ventricular cardiomyopathy/dysplasia ...

#91. Bioinformatics and Functional Genomics - 第 1054 頁 - Google 圖書結果

Phenotype MIM (disorder) PMID (GeneReviews) Typical age of onset Gene MIM ... Child/adult PKP2 DSP DSC2 TMEM43 DSG2 602861 125647 125645 612048 125671 AD KP ...

#92. Channelopathies in Heart Disease - 第 355 頁 - Google 圖書結果

Identification of a PKP2 gene deletion in a family with arrhythmogenic right ventricular cardiomyopathy. Eur J Hum Genet. 2013;21:1226–31. Liu N, Ruan Y, ...