Distal myopathies
Gene: SMPX
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 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