77751-6LOINC 2.82
TMEM216 gene c.218G>T [Presence] in Blood or Tissue by Molecular genetics method
TMEM216 c.218G>T Bld/T Ql
Definition
- 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]
Component
- TMEM216 gene.c.218G>T
Specimen / system
- Bld/Tiss
Class
- MOLPATH.MUT
Property
- PrThr
Scale
- Ord
Method
- Molgen
Related names
- Blood; Cerebello-oculorenal Syndrome 2; Genetics; Heredity; Heritable; HSPC244; Inherited; Joubert Syndrome type 2; Meckel-Gruber Syndrome Type 2; Molecular genetics; Molecular pathology; MOLPATH; MOLPATH.MUTATIONS; Ordinal; PCR; Point in time; PR; QL; Qual; Qualitative; Random; Screen; T prime; Tissue; Tissue, unspecified; TMEM216 c.218G>T; transmembrane protein 216; WB; Whole blood; Whole blood or Tissue
Index terms
- Blood
- Cerebello-oculorenal Syndrome 2
- Genetics
- Heredity
- Heritable
- HSPC244
- Inherited
- Joubert Syndrome type 2
- Meckel-Gruber Syndrome Type 2
- Molecular genetics
- Molecular pathology
- MOLPATH
- MOLPATH.MUTATIONS
- Ordinal
- PCR
- Point in time
- PR
- QL
- Qual
- Qualitative
- Random
- Screen
- T
- T prime
- Tissue
- Tissue, unspecified
- TMEM216 c.218G>
- TMEM216 gene.c.218G>T
- transmembrane protein 216
- WB
- Whole blood
- Whole blood or Tissue