TABLE 2.
NTRK1 gene variation characteristics of the six probands
| Patients | Variant | Zygote | Pathogenicity (ACMG a evidence level) | Parental origin |
|---|---|---|---|---|
| 1.1 | c.851‐33T>A | Homozygote | Pathogenic (PS1 + PS3 + PM2 + PP4) | Both father (1.2) and mother (1.3) are heterozygous carriers |
| 2.1 | c.851‐33T>A | Homozygote | Pathogenic (PS1 + PS3 + PM2 + PP4) | Both father (2.2) and mother (2.3) are heterozygous carriers |
| 3.1 | c.851‐33T>A | Compound heterozygote | Pathogenic (PS1 + PS3 + PM2 + PP4) | Mother (3.3) is heterozygous carrier |
| c.717+2T>C | Likely pathogenic (PVS1 + PM2) | |||
| 4.1 | c.1806‐2A>G | Compound heterozygote | Pathogenic (PVS1 + PM3_Strong + PM2) | |
| c.1251+1G>A | Likely pathogenic (PVS1 + PM2) | Father (4.2) is heterozygous carrier | ||
| 5.1 | c.851‐33T>A | Homozygote | Pathogenic (PS1 + PS3 + PM2 + PP4) | Both father (2.2) and mother (2.3) are heterozygous carriers |
| 6.1 | c.851‐33T>A | Compound heterozygote | Pathogenic (PS1 + PS3 + PM2 + PP4) | Father (6.2) is heterozygous carrier |
| c.851‐794C>G | Likely pathogenic (PM2 + PM3 + PP3 + PP4) | Mother (6.3) is heterozygous carrier |
NTRK1 gene transcript: NM_002529.3.
a
ACMG, American Committee on Medical Genetics and Genomics (Richards et al., 2015; PMID 25741868).