Please see below for a list of mutations included in the genetic risk factor screen for Permanent Hearing Loss (PHL).
Gene |
Mutations |
GJB2 |
c.35delG, c.235delC, c.167delT, c.71G>A, c.310_323del, c.139G>T, c.-23+1G>A, c.231G>A, c.427C>T, c.269T>C |
GJB6 |
D13S1830 (342kb deletion) |
SLC26A4 |
c.707T>C, c.1001+1G>A, c.1246A>C, c.919-2A>G, c.2168A>G, c.1003T>C, c.1229C>T, c.1614+1G>A, c.1541A>G |
Note. Beginning on October 19th, 2020, infants with only one GJB2/6 mutation identified on the above panel are reflexively screened for the GJB2 p.(V37I) mutation. The p.(V37I) mutation is therefore only reported when identified in compound heterozygous state with another mutation on the panel. Homozygosity for V37I is not assessed.