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.