TENM3 Chromosome 4
Teneurin transmembrane protein 3
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What This Gene Does
This gene encodes a member of the teneurin transmembrane protein family. The encoded protein may be involved in the regulation of neuronal development including development of the visual pathway. Mutations in this gene have been associated with microphthalmia and developmental dysplasia of the hip. [provided by RefSeq, Jan 2023]
Gene Info
Gene Group
"MicroRNA protein coding host genes|Teneurin transmembrane protein family"
Locus Type
gene with protein product
Location
4q34.3-q35.1
Ensembl
ENSG00000218336
Associated Conditions (8)
Inborn genetic diseases
Gastric cancer
TENM3-related disorder
Microphthalmia
isolated
with coloboma 9
MICROPHTHALMIA
SYNDROMIC 15
Key Variants
RS199769082
Conflicting classifications of pathogenicity
Inborn genetic diseases, Gastric cancer, Inborn genetic diseases
Health Risk
RS200560090
Conflicting classifications of pathogenicity
Inborn genetic diseases, TENM3-related disorder, Inborn genetic diseases
Health Risk
RS202194507
Conflicting classifications of pathogenicity
Inborn genetic diseases, TENM3-related disorder, Microphthalmia
Health Risk
RS1243762658
Likely pathogenic
Microphthalmia, isolated, with coloboma 9
Health Risk
RS755000701
Likely pathogenic
Microphthalmia, isolated, with coloboma 9
Health Risk
RS1579099615
Pathogenic
MICROPHTHALMIA, SYNDROMIC 15, MICROPHTHALMIA
Health Risk
RS2152678398
Pathogenic
Microphthalmia, isolated, with coloboma 9
Health Risk
RS587776950
Pathogenic
Microphthalmia, isolated, with coloboma 9
Health Risk
RS886037853
Pathogenic
MICROPHTHALMIA, SYNDROMIC 15, MICROPHTHALMIA
Health Risk
RS919662130
Pathogenic
Microphthalmia, isolated, with coloboma 9
Health Risk
All Variants (10)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS199769082 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Gastric cancer, Inborn genetic diseases |
| RS200560090 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, TENM3-related disorder, Inborn genetic diseases |
| RS202194507 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, TENM3-related disorder, Microphthalmia |
| RS1243762658 | Health Risk | Likely pathogenic | Microphthalmia, isolated, with coloboma 9 |
| RS755000701 | Health Risk | Likely pathogenic | Microphthalmia, isolated, with coloboma 9 |
| RS1579099615 | Health Risk | Pathogenic | MICROPHTHALMIA, SYNDROMIC 15, MICROPHTHALMIA |
| RS2152678398 | Health Risk | Pathogenic | Microphthalmia, isolated, with coloboma 9 |
| RS587776950 | Health Risk | Pathogenic | Microphthalmia, isolated, with coloboma 9 |
| RS886037853 | Health Risk | Pathogenic | MICROPHTHALMIA, SYNDROMIC 15, MICROPHTHALMIA |
| RS919662130 | Health Risk | Pathogenic | Microphthalmia, isolated, with coloboma 9 |