Genomics England
GMS Panels
Panels
Genes and Entities

SMN1

survival of motor neuron 1, telomeric
OMIM: 600354
PanelMode of inheritanceDetails
5 panels
Green
in Arthrogryposis
R-numbers: R83
Signed-off version 5.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
arthrogryposis, Spinal muscular atrophy-1, 253300, Spinal muscular atrophy-2, 253550, Spinal muscular atrophy-3, 253400, Spinal muscular atrophy-4, 271150
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinal muscular atrophy 253550, Spinal muscular atrophy 271150, Spinal muscular atrophy 253400, Spinal muscular atrophy 253300
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 3.24
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spinal muscular atrophy-3, OMIM:253400, Spinal muscular atrophy-4, OMIM:271150, Spinal muscular atrophy-2, OMIM:253550, Spinal muscular atrophy-1, OMIM:253300
Green
in Paediatric motor neuronopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 3.3
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
Green
in Spinal muscular atrophy type 1 rare mutation testing
R-numbers: R71
Signed-off version 1.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes