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

Related Diseases:

Hereditary dermatological disorders
Autoinflammation with arthritis and dyskeratosis
NLRP1
Chronic atypical neutrophilic dermatosis-lipodystrophy-elevated temperature syndrome
PSMA3
PSMB4
PSMB8
PSMB9
PSMG2
Epidermolysis bullosa
ITGB4
Familial acne inversa 1
NCSTN
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
OTULIN
Interleukin 36 receptor antagonist deficiency
IL36RN
Interstitial lung disease with nephrotic syndrome and epidermolysis bullosa
ITGA3
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
POMP
Nephropathy with pretibial epidermolysis bullosa and deafness
CD151
Piebaldism
KIT
Pityriasis rubra pilaris
CARD14
Psoriasis 02
CARD14
Psoriasis 14
IL36RN
Psoriasis 15
AP1S3
Pyoderma gangrenosum, acne, and hidradenitis suppurativa (PASH)
NCSTN
Pyogenic arthritis-pyoderma gangrenosum-acne syndrome
PSTPIP1
Susceptibility to vitiligo-associated multiple autoimmune disease 1
NLRP1
Joubert syndrome 02
TMEM216

References:

1.

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

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2.

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

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3.

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

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4.

Orphanet article

Orphanet ID 221342 [^]
5.

NCBI article

NCBI 51259 [^]
6.

OMIM.ORG article

Omim 613277 [^]
7.

Wikipedia article

Wikipedia EN (TMEM216) [^]
Update: April 29, 2019