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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
Dyschromatosis symmetrica hereditaria
ADAR
Ectodermal dysplasia and immunodeficiency
Ectodermal dysplasia and immunodeficiency 1
IKBKG
Ectodermal dysplasia and immunodeficiency 2
NFKBIA
Ectodermal dysplasia, anhidrotic, lymphedema and immunodeficiency
IKBKG
Epidermolysis bullosa
ITGB4
Familial acne inversa 1
NCSTN
Griscelli syndrome type 2
RAB27A
Hermansky-Pudlak syndrome 2
AP3B1
Incontinentia pigmenti
IKBKG
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
Neonatal inflammatory skin and bowel disease type 1
ADAM17
Nephropathy with pretibial epidermolysis bullosa and deafness
CD151
Piebaldism
KIT
Psoriasis
CARD14 associated psoriasis
Pityriasis rubra pilaris
CARD14
Psoriasis 02
CARD14
Psoriasis 14
IL36RN
Psoriasis 15
AP1S3
Psoriasis susceptibility 1
HLA-C
Psoriasis susceptibility 10
Psoriasis susceptibility 11
Psoriasis susceptibility 12
Psoriasis susceptibility 13
TRAF3IP2
Psoriasis susceptibility 3
Psoriasis susceptibility 4
Psoriasis susceptibility 5
Psoriasis susceptibility 6
Psoriasis susceptibility 7
Psoriasis susceptibility 8
Psoriasis susceptibility 9
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.

external link
2.

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

external link
3.

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

external link
4.

Orphanet article

Orphanet ID 221342 external link
5.

NCBI article

NCBI 51259 external link
6.

OMIM.ORG article

Omim 613277 external link
7.

Wikipedia article

Wikipedia EN (TMEM216) external link
Update: Aug. 14, 2020
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