Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
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Transmembrane protein 237

The TMEM237 gene encodes a transmembrane protein which is involved in WNT signaling. Mutations cause Joubert syndrome 14.

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:

Joubert syndrome 14
TMEM237

References:

1.

Chong JX et al. (2012) A population-based study of autosomal-recessive disease-causing mutations in a founder population.

external link
2.

Janecke AR et al. (2004) Joubert-like syndrome unlinked to known candidate loci.

external link
3.

Boycott KM et al. (2007) Meckel syndrome in the Hutterite population is actually a Joubert-related cerebello-oculo-renal syndrome.

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4.

Huang L et al. (2011) TMEM237 is mutated in individuals with a Joubert syndrome related disorder and expands the role of the TMEM family at the ciliary transition zone.

external link
5.

Zuniga FI et al. (2010) Deciphering the structure and function of Als2cr4 in the mouse retina.

external link
6.

NCBI article

NCBI 65062 external link
7.

OMIM.ORG article

Omim 614423 external link
8.

Orphanet article

Orphanet ID 286631 external link
Update: Aug. 14, 2020
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