Gene Explorer / SMN1
SMN1
Carrier statusCarrier statusStrong evidenceNotable
Carrier of spinal muscular atrophy: 1 in 4 risk to a child if both partners carry.
SMN1 deletions cause spinal muscular atrophy when a child inherits two affected copies. Healthy carriers are common enough that carrier screening before or during family planning is standard in many clinics.
Also known as: spinal muscular atrophy, SMA
Associated with
- spinal muscular atrophy
- SMA
- carrier
- family planning
- recessive
Educational only. Significant findings should be reviewed with a clinician.
Educational reference only — not a diagnosis. Discuss significant findings with a clinician.