SMN1

survival of motor neuron 1, telomeric
OMIM: 600354
PanelMode of inheritanceDetails
4 panels
R-numbers: R83
Signed-off version 4.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
arthrogryposis, SMA 0, Spinal muscular atrophy-1, 253300, Spinal muscular atrophy-2, 253550, Spinal muscular atrophy-3, 253400, Spinal muscular atrophy-4, 271150
R-numbers: R21, R412
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinal muscular atrophy 253550, Spinal muscular atrophy 271150, Spinal muscular atrophy 253400, Spinal muscular atrophy 253300
R-numbers: R78
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinal muscular atrophy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinal muscular atrophy 1, OMIM:253300, Spinal muscular atrophy 2, OMIM:253550, Spinal muscular atrophy 3, OMIM:253400, Spinal muscular atrophy 4, OMIM:271150