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Arthrogryposis

Gene: SMN1

Green List (high evidence)

SMN1 (survival of motor neuron 1, telomeric)
EnsemblGeneIds (GRCh38): ENSG00000172062
EnsemblGeneIds (GRCh37): ENSG00000172062
OMIM: 600354, Gene2Phenotype
SMN1 is in 9 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)

Green List (high evidence)

AMC known association of SMA type 0 - prenatal onset
Created: 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)

I don't know

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
  • SMA 0
  • 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

6 Oct 2020, Gel status: 3

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: SMN1 were set to 27911332; 10700538; 11826188; 8787675

27 Nov 2019, Gel status: 3

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

27 Nov 2019, Gel status: 3

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: SMN1 were set to 27911332; 10700538; 11826188

26 Nov 2019, Gel status: 3

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