Distal myopathies
Gene: SMPX
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)
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
Hemizygous variants in 10 patients from 9 families with functional data.
Sources: LiteratureCreated: 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
Tag Q3_23_promote_green was removed from gene: SMPX. Tag Q3_23_MOI was removed from gene: SMPX.
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)
Tag Q3_23_promote_green tag was added to gene: SMPX. Tag Q3_23_MOI tag was added to gene: SMPX.
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
Publications for gene: SMPX were set to PMID: 33974137
Gene: smpx has been classified as Amber List (Moderate Evidence).
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