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Distal myopathies

Gene: SMPX

Green List (high evidence)
SMPX (small muscle protein, X-linked)
EnsemblGeneIds (GRCh38): ENSG00000091482
EnsemblGeneIds (GRCh37): ENSG00000091482
OMIM: 300226, Gene2Phenotype
SMPX is in 2 panels

3 reviews

Eleanor Williams (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to 'X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)' following NHS Genomic Medicine Service approval.
Created: 2 May 2024, 12:54 p.m. | Last Modified: 2 May 2024, 12:54 p.m.
Panel Version: 4.3

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Created: 2 May 2024, 12:54 p.m.
Last Modified: 2 May 2024, 12:54 p.m.
Panel version: 4.3

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Hemizygous variants in SMPX have been associated with Myopathy, distal, 7, adult-onset, X-linked (OMIM:301075), but not been associated with phenotype in Gen2Phen. PMID: 33974137 reports four SMPX variants in seven families without shared haplotypes. In vitro studies suggested a gain-of-function action of these variants, resulting a protein that was less soluble compared to wildtype, which in some cases had a tendency to aggregate.
Created: 10 Aug 2023, 4:49 p.m. | Last Modified: 10 Aug 2023, 4:49 p.m.
Panel Version: 3.8
Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review.
Created: 10 Aug 2023, 3:55 p.m. | Last Modified: 10 Aug 2023, 3:55 p.m.
Panel Version: 3.6
Created: 10 Aug 2023, 3:55 p.m.
Last Modified: 10 Aug 2023, 3:55 p.m.
Panel version: 3.8

Dmitrijs Rots (Children's Clinical University Hospital)

Green List (high evidence)

Hemizygous variants in 10 patients from 9 families with functional data.
Sources: Literature
Created: 28 Nov 2021, 1:48 p.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females

Phenotypes
Distal myopathy

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 28 Nov 2021, 1:48 p.m.

Panel version: 1.38

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Myopathy, distal, 7, adult-onset, X-linked, OMIM:301075
  • myopathy, distal, 7, adult-onset, X-linked, MONDO:0024771
OMIM
300226
Clinvar variants
Variants in SMPX
Penetrance
unknown
Publications
Mode of Pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Panels with this gene

History Filter Activity

2 May 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_23_promote_green was removed from gene: SMPX. Tag Q3_23_MOI was removed from gene: SMPX.

2 May 2024, Gel status: 3

Added New Source, Added New Source, Set mode of inheritance, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to SMPX. Source NHS GMS was added to SMPX. Mode of inheritance for gene SMPX was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

10 Aug 2023, Gel status: 2

Added Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag Q3_23_promote_green tag was added to gene: SMPX. Tag Q3_23_MOI tag was added to gene: SMPX.

10 Aug 2023, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: SMPX were changed from Distal myopathy to Myopathy, distal, 7, adult-onset, X-linked, OMIM:301075; myopathy, distal, 7, adult-onset, X-linked, MONDO:0024771

10 Aug 2023, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: SMPX were set to PMID: 33974137

10 Aug 2023, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: smpx has been classified as Amber List (Moderate Evidence).

28 Nov 2021, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance, Set mode of pathogenicity

Dmitrijs Rots (Children's Clinical University Hospital)

gene: SMPX was added gene: SMPX was added to Distal myopathies. Sources: Literature Mode of inheritance for gene: SMPX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: SMPX were set to PMID: 33974137 Phenotypes for gene: SMPX were set to Distal myopathy Penetrance for gene: SMPX were set to unknown Mode of pathogenicity for gene: SMPX was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments Review for gene: SMPX was set to GREEN