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Spinal muscular atrophy type 1 rare mutation testing
Gene: SMN1
SMN1 (survival of motor neuron 1, telomeric)
EnsemblGeneIds (GRCh38): ENSG00000172062
EnsemblGeneIds (GRCh37): ENSG00000172062
OMIM: 600354, Gene2Phenotype
SMN1 is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000172062
EnsemblGeneIds (GRCh37): ENSG00000172062
OMIM: 600354, Gene2Phenotype
SMN1 is in 7 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with MIM #253300 in OMIM and the OMIM record was last accessed on 29 December 2025.Created: 29 Dec 2025, 1:14 p.m. | Last Modified: 29 Dec 2025, 1:14 p.m.
Panel Version: 1.2
SMN1 has been added to the panel for R71 Spinal muscular atrophy type 1 rare mutation testing with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 3:43 p.m. | Last Modified: 30 Jun 2023, 3:43 p.m.
Panel Version: 0.1
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Spinal muscular atrophy-1, OMIM:253300
- spinal muscular atrophy, type 1, MONDO:0009669
- OMIM
- 600354
- Clinvar variants
- Variants in SMN1
- Penetrance
- None
- Panels with this gene
History Filter Activity
29 Dec 2025, Gel status: 3
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: SMN1 were changed from to Spinal muscular atrophy-1, OMIM:253300; spinal muscular atrophy, type 1, MONDO:0009669
30 Jun 2023, Gel status: 3
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: SMN1 was added gene: SMN1 was added to Spinal muscular atrophy type 1 rare mutation testing. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal