Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
Moldiag Diseases Genes Support Contact

Semaphorin-3E

The SEMA3E gene encodes a semaphorin which are extracellular proteins with regulatory functions such as axonal growth. Mutations probably cause autosomal dominant CHARGE syndrome.

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:

CHARGE syndrome
CHD7
SEMA3E
TBX18

References:

1.

Nagase T et al. (1997) Prediction of the coding sequences of unidentified human genes. VII. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro.

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2.

Martin DM et al. (2001) CHARGE association with choanal atresia and inner ear hypoplasia in a child with a de novo chromosome translocation t(2;7)(p14;q21.11).

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3.

Lalani SR et al. (2004) SEMA3E mutation in a patient with CHARGE syndrome.

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4.

Cariboni A et al. (2015) Dysfunctional SEMA3E signaling underlies gonadotropin-releasing hormone neuron deficiency in Kallmann syndrome.

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5.

Christensen CR et al. (1998) Transcription of a novel mouse semaphorin gene, M-semaH, correlates with the metastatic ability of mouse tumor cell lines.

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6.

Gu C et al. (2005) Semaphorin 3E and plexin-D1 control vascular pattern independently of neuropilins.

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7.

Pecho-Vrieseling E et al. (2009) Specificity of sensory-motor connections encoded by Sema3e-Plxnd1 recognition.

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8.

Orphanet article

Orphanet ID 118590 external link
9.

NCBI article

NCBI 9723 external link
10.

OMIM.ORG article

Omim 608166 external link
Update: Aug. 14, 2020
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