Paediatric motor neuronopathies
Gene: SMN1Phenotype 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
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.
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
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
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
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
Publications for gene: SMN1 were set to 7813012
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
Gene panel promoted to v1 on 7 March 2017 following external review and internal curation
This gene has been classified as Green List (High Evidence).
Publications for SMN1 were set to 7813012
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
SMN1 was added to Paediatric motor neuronopathiespanel. Sources: Expert
SMN1 was added to Paediatric motor neuronopathiespanel. Sources: UKGTN
SMN1 was added to Paediatric motor neuronopathiespanel. Sources: Radboud University Medical Center, Nijmegen
SMN1 was added to Paediatric motor neuronopathiespanel. Sources: Emory Genetics Laboratory