SMN1

survival of motor neuron 1, telomeric
OMIM: 600354
PanelMode of inheritanceDetails
5 panels
R-numbers: R83
Signed-off version 3.2
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
Signed-off version 1.92
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 1.36
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinal muscular atrophy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 2.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinal muscular atrophy-4, 271150
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.30
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinal muscular atrophy 1, 253300, Spinal muscular atrophy 2, 253550, Spinal muscular atrophy 3, 253400, Spinal muscular atrophy 4, 271150