Arthrogryposis
Gene: SMN1EnsemblGeneIds (GRCh38): ENSG00000172062
EnsemblGeneIds (GRCh37): ENSG00000172062
OMIM: 600354, Gene2Phenotype
SMN1 is in 7 panels
3 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, 10:56 a.m. | Last Modified: 6 Oct 2020, 10:56 a.m.
Panel Version: 3.13
Phenotypes
Spinal muscular atrophy
Publications
Zerin Hyder (Genomics England)
AMC known association of SMA type 0 - prenatal onsetCreated: 27 Nov 2019, 5:02 p.m. | Last Modified: 27 Nov 2019, 5:02 p.m.
Panel Version: 2.84
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
spinal muscular atrophy
Publications
Rebecca Foulger (Genomics England curator)
Added to Arthrogryposis panel as suggested by Zerin Hyder (Genomics England Clinical Team).Created: 26 Nov 2019, 3:16 p.m. | Last Modified: 26 Nov 2019, 3:16 p.m.
Panel Version: 2.64
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- arthrogryposis
- Spinal muscular atrophy-1, 253300
- Spinal muscular atrophy-2, 253550
- Spinal muscular atrophy-3, 253400
- Spinal muscular atrophy-4, 271150
- OMIM
- 600354
- Clinvar variants
- Variants in SMN1
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: SMN1 were changed from arthrogryposis; SMA 0; Spinal muscular atrophy-1, 253300; Spinal muscular atrophy-2, 253550; Spinal muscular atrophy-3, 253400; Spinal muscular atrophy-4, 271150 to arthrogryposis; Spinal muscular atrophy-1, 253300; Spinal muscular atrophy-2, 253550; Spinal muscular atrophy-3, 253400; Spinal muscular atrophy-4, 271150
Set publications
Eleanor Williams (Genomics England Curator)Publications for gene: SMN1 were set to 27911332; 10700538; 11826188; 8787675
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: SMN1 were changed from arthrogryposis; SMA 0 to arthrogryposis; SMA 0; Spinal muscular atrophy-1, 253300; Spinal muscular atrophy-2, 253550; Spinal muscular atrophy-3, 253400; Spinal muscular atrophy-4, 271150
Set publications
Rebecca Foulger (Genomics England curator)Publications for gene: SMN1 were set to 27911332; 10700538; 11826188
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: SMN1 was added gene: SMN1 was added to Arthrogryposis. Sources: Literature,Expert Review Green Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SMN1 were set to 27911332; 10700538; 11826188 Phenotypes for gene: SMN1 were set to arthrogryposis; SMA 0