SMN2

survival of motor neuron 2, centromeric
OMIM: 601627, Gene2Phenotype

1 panel

Panel Reviews Mode of inheritance Details
1 panel

Amber SMN2 in Mendeliome


Version 1.2374

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Victorian Clinical Genetics Services
Phenotypes
  • {Spinal muscular atrophy, type III, modifier of} 253400