Limb girdle muscular dystrophy

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

3 reviews

Ellen McDonagh (Genomics England Curator)

Comment on mode of inheritance: Confirmed in OMIM for relevant phenotype.
Created: 28 Nov 2019, 4:15 p.m. | Last Modified: 28 Nov 2019, 4:15 p.m.
Panel Version: 1.113
Comment on list classification: Promoted from Red to Green based on the review and comments from Chiara Marini Bettolo (NUTH).
Created: 28 Nov 2019, 4:15 p.m. | Last Modified: 28 Nov 2019, 4:15 p.m.
Panel Version: 1.112

Chiara Marini Bettolo (NUTH)

Green List (high evidence)

SMA. In adult onset forms diagosis can often be difficult and delayed because of overlap with LGMD and some patients undergo even muscle biopsy. The muscle pathology can also be difficult to distinguish.
Created: 21 Oct 2019, 1:27 p.m. | Last Modified: 21 Oct 2019, 1:27 p.m.
Panel Version: 1.97

Louise Daugherty (Genomics England Curator)

I don't know

New gene requested to be added to panel by Chiara Marini Bettolo (NUTH) on behalf of Yorkshire North East
Sources: Expert Review
Created: 21 Oct 2019, 11:24 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Spinal muscular atrophy-4, 271150

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Expert Review
Phenotypes
  • Spinal muscular atrophy-4, 271150
OMIM
600354
Clinvar variants
Variants in SMN1
Penetrance
None
Panels with this gene

History Filter Activity

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

28 Nov 2019, Gel status: 3

Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Mode of inheritance for gene: SMN1 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal

28 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Ellen McDonagh (Genomics England Curator)

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

21 Oct 2019, Gel status: 1

Added New Source, Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to SMN1. Source Yorkshire and North East GLH was added to SMN1.

21 Oct 2019, Gel status: 1

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

Louise Daugherty (Genomics England Curator)

gene: SMN1 was added gene: SMN1 was added to Limb girdle muscular dystrophy. Sources: Expert Review Mode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: SMN1 were set to Spinal muscular atrophy-4, 271150 Review for gene: SMN1 was set to AMBER