Version 2.78

Part Descriptions

LP265698-3   EZH2 gene
The EZH2 (enhancer of zeste 2 polycomb repressive complex 2 subunit) gene [HGNC Gene ID:3527] is located on chromosome 7 at 7q36.1. This gene encodes a member of the Polycomb-group (PcG) family. PcG family members form multimeric protein complexes, which are involved in maintaining the transcriptional repressive state of genes over successive cell generations. This protein associates with the embryonic ectoderm development protein, the VAV1 oncoprotein, and the X-linked nuclear protein. This protein may play a role in the hematopoietic and central nervous systems. Multiple alternatively splcied transcript variants encoding distinct isoforms have been identified for this gene. [provided by RefSeq, Feb 2011] [NCBI Gene ID:2146] Source: National Center for Biotechnology Information (NCBI) Gene

LP265698-3   EZH2 gene
The EZH2 gene, located on chromosome 7, encodes a subunit of a histone methyltransferase enzyme. Histone methyltransferases regulate gene expression by the addition of methyl groups to histones. EZH2 mutations are associated with various cancers, including different types of lymphoma and leukemia as well as solid tumors including breast and prostate cancer. EZH2 mutations are also associated with Weaver syndrome, a genetic disorder with characteristic features that include tall stature, hypertelorism, micrognathia, low-set ears, and a broad forehead. Some patients with Weaver syndrome also have mild intellectual disability and macrocephaly. [MedlinePlus Gene: EZH2] Source: Regenstrief LOINC

Fully-Specified Name

Component
EZH2 gene targeted mutation analysis
Property
Prid
Time
Pt
System
Bld/Tiss
Scale
Nom
Method
Molgen

Additional Names

Long Common Name
EZH2 gene mutations found [Identifier] in Blood or Tissue by Molecular genetics method Nominal
Short Name
EZH2 gene Mut Anl Bld/T
Display Name
EZH2 gene targeted mutation analysis Molgen Nom (Bld/Tiss)
Consumer Name Alpha Get Info
EZH2 gene targeted mutation analysis, Blood or tissue specimen

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.70
Last Updated
Version 2.70
Order vs. Observation
Both

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen EZH2 Analisis de mutaciones:Presencia o identidad:Punto temporal:Sangre o tejido:Nom:Genética molecular
es-MX Spanish (Mexico) Análisis de mutaciones dirigidas al gen EZH2:Orgullo:Punto temporal:Bld / Tiss:Nominal:Molgen
fr-FR French (France) EZH2 gène mutation cible trouvée:Identification:Ponctuel:Sang/Tissu:Résultat nominal:Biologie moléculaire
it-IT Italian (Italy) EZH2, gene analisi di mutazione mirata:Prid:Pt:Sangue/Tess:Nom:Molgen
Synonyms: Genetica molecolare Mutazione genica Patologia molecolare Presenza o Identità Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) EZH2-gen doelgerichte mutatie-analyse:identificator:moment:bloed of weefsel:nominaal:moleculair genetisch onderzoek
Synonyms: molgen targeted
zh-CN Chinese (China) EZH2 基因 突变分析:存在与否或特征标识:时间点:全血/组织:名义型:分子遗传学类实验室方法
Synonyms: Enhancer Of Zeste 2 Polycomb Repressive Complex 2 Subunit gene;Zeste 2 多梳抑制复合物 2 亚单位增强子基因 全血或组织;血液/组织;血液或组织 分子病理学.基因突变;分子病理学.突变;分子病理学试验.基因突变;分子病理学试验.突变;分子病理学试验类.突变;基因突变;突变 分子病理学;分子病理学试验 分子遗传学;分子遗传学方法;分子遗传学类方法;分子遗传学类检验方法;包括 RFL、PCR 及其他方法在内，用于在分子基础上检测遗传属性的方法的大类;聚合酶链反应;聚合酶链式反应 分类型应答;分类型结果;名义性;名称型;名词型;名词性;标称性;没有自然次序的名义型或分类型应答 基因突变分析 存在;存在与否;特征标识;身份;身份标识 时刻;随机;随意;瞬间 未作说明的组织;组织;组织 & 涂片 血;血液 遗传基因;遗传因子;吉恩;生物基因

LOINC Terminology Service (API) using HL7® FHIR® Get Info

CodeSystem lookup
https://fhir.loinc.org/CodeSystem/$lookup?system=http://loinc.org&code=96964-2