Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Transmembrane protein 216

The TMEM216 gene encodes a transmembraneous protein involved in cilia assambly. Mutations cause autosomal recessive Joubert syndrome 2 and Meckel syndrome 2.

Genetests:

Clinic Method Carrier testing
Turnaround 5
Specimen type genomic DNA
Research Method Genomic sequencing of the entire coding region
Turnaround 25
Specimen type genomic DNA
Clinic Method Massive parallel sequencing
Turnaround 25
Specimen type genomic DNA

Related Diseases:

Hereditary dermatological disorders
Epidermolysis bullosa
ITGB4
Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
ITGA3
Nephropathy with pretibial epidermolysis bullosa and deafness
CD151
Piebaldism
KIT
Joubert syndrome 02
TMEM216

References:

1.

Edvardson S et. al. (2010) Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation.

[^]
2.

Valente EM et. al. (2010) Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes.

[^]
3.

Lee JH et. al. (2012) Evolutionarily assembled cis-regulatory module at a human ciliopathy locus.

[^]
Update: Sept. 26, 2018