Paediatric motor neuronopathies
Gene: SMN1EnsemblGeneIds (GRCh38): ENSG00000172062
EnsemblGeneIds (GRCh37): ENSG00000172062
OMIM: 600354, Gene2Phenotype
SMN1 is in 7 panels
5 reviews
Eleanor Williams (Genomics England Curator)
Phenotype refinement:
PMID: 32644125 - Hensel et al 2020 - 42 SMA children (not genotyped) compared to age-matched controls had signficantly smaller anterior height (cranio-caudal extent) as well as the depth of the upper endplate. Bone mineral density were significantly lower in SMA children compared to age-matched healthy controls. This growth defect but not the mineralization defect was evident in pre-symptomatic SMA mice.
PMID: 32644120 - Motyl et al 2020 - mouse model of Spinal muscular atrophy shows that presymptomatic SMA embryos were significantly smaller than littermate controls, indicative of general developmental delay. In particular, cardiac ventricles were smaller in SMA hearts, but not liver and brain. Significant molecular perturbations in proteomic profiles were observed in all organs examined, highlighting tissue-specific prenatal molecular phenotypes in SMA.Created: 6 Oct 2020, 11:37 a.m. | Last Modified: 6 Oct 2020, 11:37 a.m.
Panel Version: 1.33
Phenotypes
Spinal muscular atrophy
Publications
Ellen McDonagh (Genomics England Curator)
Added the tag ‘gene-therapy-trial’ as this gene-disease is within the Gene Therapy Panel available here: https://panelapp.genomicsengland.co.uk/panels/412Created: 14 May 2018, 9:53 a.m.
Pinki Munot (Consultant )
well known condition and phenotypeCreated: 2 Mar 2017, 4:42 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
classic SMA type 1, type 2 and type 3 phenotype
Dragana Josifova (Guy's and St. Thomas' NHS Trust)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Alice Gardham (Genomics England)
Confirmed cause of SMACreated: 2 Nov 2016, 12:10 p.m.
Mode of inheritance
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
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert
- UKGTN
- Radboud University Medical Center, Nijmegen
- Emory Genetics Laboratory
- 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
- Tags
- OMIM
- 600354
- Clinvar variants
- Variants in SMN1
- Penetrance
- Complete
- Publications
- Mode of Pathogenicity
- Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
- Panels with this gene
History Filter Activity
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy 1, 253300; Spinal muscular atrophy 2, 253550; Spinal muscular atrophy 3, 253400; Spinal muscular atrophy 4, 271150 to Spinal muscular atrophy 1, OMIM:253300; Spinal muscular atrophy 2, OMIM:253550; Spinal muscular atrophy 3, OMIM:253400; Spinal muscular atrophy 4, OMIM:271150
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: SMN1 were set to 7813012
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy-1, 253300 to Spinal muscular atrophy 1, 253300; Spinal muscular atrophy 2, 253550; Spinal muscular atrophy 3, 253400; Spinal muscular atrophy 4, 271150
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set publications
Alice Gardham (Genomics England)Publications for SMN1 were set to 7813012
Set mode of pathogenicity
Alice Gardham (Genomics England)Mode of pathogenicity for SMN1 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Added New Source
Eik Haraldsdottir (Genomics England)SMN1 was added to Paediatric motor neuronopathiespanel. Sources: Expert
Added New Source
Antonio Rueda (GEL)SMN1 was added to Paediatric motor neuronopathiespanel. Sources: UKGTN
Added New Source
Antonio Rueda (GEL)SMN1 was added to Paediatric motor neuronopathiespanel. Sources: Radboud University Medical Center, Nijmegen
Added New Source
Antonio Rueda (GEL)SMN1 was added to Paediatric motor neuronopathiespanel. Sources: Emory Genetics Laboratory