Hereditary Neuropathy_CMT - isolated

Gene: SMN1

Green List (high evidence)

Well established gene-disease association.

Note deletions are common and high sequence homology between SMN1 and SMN2 can make NGS data difficult to interpret.

Created: 12 May 2021, 11:51 p.m. | Last Modified: 12 May 2021, 11:51 p.m.

Panel Version: 0.162

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinal muscular atrophy-1, MIM# 253300; Spinal muscular atrophy-2, MIM# 253550; Spinal muscular atrophy-3, MIM# 253400; Spinal muscular atrophy-4, MIM# 271150

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, 10:57 a.m. | Last Modified: 6 Oct 2020, 10:57 a.m.

Panel Version: 0.4807

Phenotypes
Spinal muscular atrophy

Publications

• 32644125
• 32644120