TENM3(Teneurin-3) encodes a membrane protein and is located on the long arm of chromosome 4. Pathogenic variations associated with MCOPS15 (Microphthalmia syndromic 15) are mainly truncating variations (2 third of the reported variations) but missense variations and in one frame deletion have also been reported.
Mutations in TENM3can be identified using targeted or genome-wide sequencing technology.
TENM3