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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 8 panels

2 reviews

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

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