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Prepair 1000+

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 10 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Separate assay deployed as part of Prepair to detect SMA carrier status due to deletions.
Created: 4 Feb 2025, 6:43 a.m. | Last Modified: 4 Feb 2025, 6:43 a.m.
Panel Version: 1.1399

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669

Marta Cifuentes Ochoa (Victorian Clinical Genetics Services)

Green List (high evidence)

Spinal muscular atrophy (SMA) is a genetic disease that causes progressive muscle weakness and wasting.

The most common form of SMA is caused by a homozygous deletion of exon 7 of the SMN1 gene, often accompanied by a deletion of exon 8 as well.
The SMN1 SNP most commonly associated with a "silent carrier" status in the Ashkenazi Jewish population, indicating a "2+0" genotype where an individual has two copies of the SMN1 gene on one chromosome and zero on the other, is *c. 3+80T>G.

HGNC approved symbol/name: SMN1
Is the phenotype(s) severe and onset <18yo? Y
Known technical challenges? Y High sequence homology between SMN1 and SMN2 can make NGS data difficult to interpret.
Gene reported in >3 independent families
Created: 4 Feb 2025, 5:47 a.m. | Last Modified: 4 Feb 2025, 5:47 a.m.
Panel Version: 1.1397

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Mackenzie's Mission
Phenotypes
  • Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669
Tags
SV/CNV
OMIM
600354
Clinvar variants
Variants in SMN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

4 Feb 2025, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag SV/CNV tag was added to gene: SMN1.

4 Feb 2025, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: smn1 has been classified as Green List (High Evidence).

4 Feb 2025, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy-1, 253300 (3) to Spinal muscular atrophy-1, MIM# 253300, MONDO:0009669

4 Feb 2025, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SMN1 were set to

2 Nov 2023, Gel status: 3

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Added phenotypes Spinal muscular atrophy-1, 253300 (3) for gene: SMN1

1 Jun 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SMN1 was added gene: SMN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMN1 were set to Spinal muscular atrophy-1, 253300 (3)