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Gene therapy clinical trials

Gene: SMN2

Green List (high evidence)
SMN2 (survival of motor neuron 2, centromeric)
EnsemblGeneIds (GRCh38): ENSG00000205571
EnsemblGeneIds (GRCh37): ENSG00000205571
OMIM: 601627, Gene2Phenotype
SMN2 is in 0 panels

1 review

Ellen McDonagh (Genomics England Curator)

Green List (high evidence)

Biological: AVXS-101 - https://ClinicalTrials.gov/show/NCT03505099
Created: 12 May 2018, 8:57 a.m.

Phenotypes
Spinal Muscular Atrophy

Created: 12 May 2018, 8:57 a.m.

Panel version: 0.6

Details

Sources
  • Expert Review Green
  • ClinicalTrials.gov
Phenotypes
  • {Spinal muscular atrophy, type III, modifier of}, OMIM:253400
OMIM
601627
Clinvar variants
Variants in SMN2
Penetrance
None
Panels with this gene

History Filter Activity

14 Mar 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: SMN2 were changed from {Spinal muscular atrophy, type III, modifier of}, OMIM: 253400 to {Spinal muscular atrophy, type III, modifier of}, OMIM:253400

14 Mar 2023, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: SMN2 were changed from Spinal Muscular Atrophy to {Spinal muscular atrophy, type III, modifier of}, OMIM: 253400

12 May 2018, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

SMN2 was added to Gene therapy clinical trials panel. Sources: ClinicalTrials.gov,Expert Review Green

12 May 2018, Gel status: 4

Created

Ellen McDonagh (Genomics England Curator)

SMN2 was created by Ellen McDonagh