TENM2

On this page, you will find information about genetic changes that were identified in a UDN participant. We are trying to find others with the same or similar condition.

Sharing information on this website is not a requirement of UDN participation. Only descriptions about participants who give explicit consent will appear here.

Changes in this gene were identified in two UDN participants. One of these participants is a 4-year-old male with low muscle tone, seizures, and developmental delay (read full description). The other participant is 17-year-old male with intellectual disability, history of leukemia, heart abnormalities, and multiple abnormal bone and cartilage growths (read full description).

Date of Report

Jun 03, 2019

Full Name

Teneurin transmembrane protein 2

Location
Chromosome 5 (5q34)


Function

TENM2 encodes for the teneurin-2 protein, which plays a role in synaptogenesis, neurite outgrowth, axon guidance, and neuronal connectivity (Silva et al., 2011).

Database Links

GeneCards: GC05P166979

NCBI Gene: 57451

OMIM: 610119

UniProtKB/Swiss-Prot: Q9NT68

Clinical Significance

Changes in the TENM2 gene were identified in two UDN participants. Research is underway to see if these changes are causing symptoms in these participants.

Participant 037, a 4-year-old male with low muscle tone (hypotonia), seizures (epilepsy), and developmental delay was found to carry the following genetic changes in the TENM2 gene: c.2475C>A / p.Asn825Lys (position: chr5:167589668, transcript: ENST00000518659.1) and c.4844A>G / p.Tyr1615Cys (position: chr5:167645740, transcript: ENST00000518659.1).

Participant 130, a 17-year-old male with intellectual disability, history of leukemia, heart abnormalities, and multiple abnormal bone and cartilage growths (osteochondromas) was found to carry the following genetic changes in the TENM2 gene: c.1336A>G / p.Ile446Val (position: chr5:167489091, transcript: NM_001122679.1) and c.2612G>T / p.Arg871Leu (position: chr5:167617411, transcript: NM_001122679.1).

Gene TENM2
Inheritance Pattern see gene page
Position (hg19) see gene page
Transcript see gene page
DNA Change see gene page
Protein Change see gene page
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