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Newborns main panel

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 7 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Special Consideration: Special Variant Caller.
Created: 26 Sep 2024, 4:16 p.m. | Last Modified: 26 Sep 2024, 4:16 p.m.
Panel Version: 0.469
Created: 26 Sep 2024, 4:16 p.m.
Last Modified: 26 Sep 2024, 4:16 p.m.
Panel version: 0.469

Mafalda Gomes (Genomics England Curator)

The mechanism of pathogenicity is loss-of-function (LOF).
Created: 1 Jun 2023, 2:40 p.m. | Last Modified: 1 Jun 2023, 2:40 p.m.
Panel Version: 0.137
Spinal Muscular Atrophy - GeneReviews - NCBI Bookshelf (nih.gov)
Created: 1 Jun 2023, 12:22 p.m. | Last Modified: 1 Jun 2023, 12:22 p.m.
Panel Version: 0.135
Algorithm required
Created: 1 Jun 2023, 12:20 p.m. | Last Modified: 1 Jun 2023, 12:20 p.m.
Panel Version: 0.133
Created: 1 Jun 2023, 12:20 p.m.
Last Modified: 1 Jun 2023, 12:20 p.m.
Panel version: 0.137

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Spinal Muscular Atrophy
Tags
special_consideration special_caller_only
OMIM
600354
Clinvar variants
Variants in SMN1
Penetrance
None
Panels with this gene

History Filter Activity

26 Sep 2024, Gel status: 3

Added Tag

Arina Puzriakova (Genomics England Curator)

Tag special_consideration tag was added to gene: SMN1.

27 Sep 2023, Gel status: 3

Added Tag

Mafalda Gomes (Genomics England Curator)

Tag special_caller_only tag was added to gene: SMN1.

14 Sep 2023, Gel status: 3

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Spinal Muscular Atrophy for gene: SMN1

5 Jul 2023, Gel status: 3

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Green was added to SMN1. Added phenotypes Spinal Muscular Atrophy for gene: SMN1 Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

31 May 2023, Gel status: 2

Added New Source, Set Phenotypes, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Amber was added to SMN1. Added phenotypes Spinal Muscular Atrophy for gene: SMN1 Rating Changed from No List (delete) to Amber List (moderate evidence)

5 May 2023, Gel status: 0

Added New Source, Status Update

Mafalda Gomes (Genomics England Curator)

Source Expert Review Removed was added to SMN1. Rating Changed from Amber List (moderate evidence) to No List (delete)

9 Mar 2023, Gel status: 2

Set Phenotypes

Mafalda Gomes (Genomics England Curator)

Added phenotypes Spinal Muscular Atrophy for gene: SMN1

9 Mar 2023, Gel status: 2

Created, Added New Source, Set mode of inheritance

Mafalda Gomes (Genomics England Curator)

gene: SMN1 was added gene: SMN1 was added to Newborns main panel. Sources: Expert Review Amber Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal