Version 2.78

Term Description

The presence of the TMEM216 gene mutation c.218G>T (p.R73L, NM_001173990.1) is associated with Joubert syndrome type 2. Among Ashkenazi Jewish individuals, the carrier frequency is 1/92 (1.1%) and detection rate is approximately 99%. If negative, the patient's carrier risk is reduced from 1/92 to less than 1/9100 (0.01%). PMID: 20036350
Source: Regenstrief LOINC

Part Description

LP193291-4   TMEM216 gene.c.218G>T
The TMEM216 (transmembrane protein 216) gene [HGNC Gene ID: 25018] is located on chromosome 11q13.1. This locus encodes a transmembrane domain-containing protein. Mutations at this locus have been associated with Meckel-Gruber Syndrome Type 2, and Joubert Syndrome 2, also known as Cerebello-oculorenal Syndrome 2. [provided by RefSeq, Aug 2010][NCBI Gene ID: 51259] Source: National Center for Biotechnology Information (NCBI) Gene

Fully-Specified Name

Component
TMEM216 gene.c.218G>T
Property
PrThr
Time
Pt
System
Bld/Tiss
Scale
Ord
Method
Molgen

Additional Names

Short Name
TMEM216 c.218G>T Bld/T Ql
Display Name
TMEM216 gene c.218G>T Molgen Ql (Bld/Tiss)
Consumer Name Alpha Get Info
TMEM216 gene c.218G>T, Blood or tissue specimen

Example Answer List: LL3630-2

Source: Regenstrief LOINC
Answer Code Score Answer ID
G/G (wild type) LA19932-5
G/T (heterozygous) LA24047-5
T/T (homozygous) LA13523-8

Basic Attributes

Class
MOLPATH.MUT
Type
Laboratory
First Released
Version 2.52
Last Updated
Version 2.73
Change Reason
The PrThr property is used for LOINC terms whose results are reported using an ordered categorical scale, regardless of whether or not an internal threshold was used to make that determination. This change was approved by the Laboratory LOINC Committee in June 2016.
Order vs. Observation
Both
Common Test Rank Get Info
7512

Language Variants Get Info

Tag Language Translation
es-ES Spanish (Spain) Gen TMEM216 c.218G>T:PrThr:Punto temporal:Sangre o tejido:Ord:Genética molecular
es-MX Spanish (Mexico) TMEM216 gene.c.218G> T:Presencia o umbral:Punto temporal:Sangre o tejido:Ordinal:Genética molecular
fr-FR French (France) TMEM216 gène mutation c.218G>T:Présence/Seuil:Ponctuel:Sang/Tissu:Qualitatif:Biologie moléculaire
it-IT Italian (Italy) TMEM216, gene.c.218G>T:PrThr:Pt:Sangue/Tess:Ord:Molgen
Synonyms: Gene TMEM216.c.218G>T Genetica molecolare Mutazione genica Patologia molecolare Presenza o Soglia Punto nel tempo (episodio) Sangue Sangue o Tessuto Tessuto & Strisci
nl-NL Dutch (Netherlands) TMEM216-gen.c.218G>T:aanwezigheid:moment:bloed of weefsel:ordinaal:moleculair genetisch onderzoek
Synonyms: molgen TMEM216 gen.c.218G>T
tr-TR Turkish (Turkey) TMEM216 geni.c.218G>T:MevcEşik:Zmlı:Kan/Dk:Srl:Molgen
Synonyms: Mevcut
zh-CN Chinese (China) TMEM216 基因.c.218G>T:存在情况或阈值:时间点:全血/组织:序数型:分子遗传学类实验室方法
Synonyms: C 型;丙;丙型 依次型;分类顺序型;定性的;序数型（或称等级型）;性质上的;有序型;有序性分类应答;有序性分类结果;秩次型;等级型;筛查;顺序型 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 存在情况;存在;存在与否;是否存在;阈值;界值;界限;阀值;临界值;存在情况（存在、存在与否、是否存在）或阈值（界值、界限、阀值、临界值） 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

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