Hereditary neuropathy or pain disorder
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, 11:39 a.m. | Last Modified: 6 Oct 2020, 11:39 a.m.
Panel Version: 1.8
Phenotypes
Spinal muscular atrophy
Publications
Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.Created: 9 May 2019, 5 p.m.
Can present as late onset motor neuropathy. Sequencing and copy number analysis confounded by SMN2Created: 29 Apr 2019, 9:20 a.m.
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, 9:54 a.m.
Comment on list classification: Promoted from red to green due to agreement from 3 reviewers. Missense and deletions are reported in OMIM with an association with spinal muscular atrophy.Created: 5 May 2016, 10:24 a.m.
most common cause of SMACreated: 9 Dec 2015, 4:49 p.m.
Variants in this GENE are reported as part of current diagnostic practice
Cause of SMA but only exonic deletionsCreated: 9 Dec 2015, 8:50 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Cause of SMA but only exonic deletionsCreated: 8 Dec 2015, 3:06 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy to Spinal muscular atrophy-3, OMIM:253400; Spinal muscular atrophy-4, OMIM:271150; Spinal muscular atrophy-2, OMIM:253550; Spinal muscular atrophy-1, OMIM:253300
Publications for gene: SMN1 were set to
gene: SMN1 was added gene: SMN1 was added to Hereditary neuropathy NOT PMP22 copy number. Sources: NHS GMS,London North GLH,Expert Review Green,Expert list Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMN1 were set to Spinal muscular atrophy