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| Mendeliome v0.12931 | SMPX | Zornitza Stark Phenotypes for gene: SMPX were changed from Deafness, X-linked 4, MIM# 300066; Distal myopathy, adult-onset to Deafness, X-linked 4, MIM# 300066; Myopathy, distal, 7, adult-onset, X-linked, MIM# 301075 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.12930 | SMPX | Zornitza Stark edited their review of gene: SMPX: Changed phenotypes: Deafness, X-linked 4, MIM# 300066, Myopathy, distal, 7, adult-onset, X-linked, MIM# 301075 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10043 | SMPX | Zornitza Stark Phenotypes for gene: SMPX were changed from Deafness, X-linked 4, MIM# 300066 to Deafness, X-linked 4, MIM# 300066; Distal myopathy, adult-onset | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10042 | SMPX | Zornitza Stark Publications for gene: SMPX were set to 21549342; 21549336; 21893181; 22911656; 28542515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.10041 | SMPX | Zornitza Stark edited their review of gene: SMPX: Added comment: PMID 33974137: Four different missense variants were identified in ten patients from nine families in five different countries. Haplotype analysis of patients with similar ancestry revealed two different founder mutations in Southern Europe and France, indicating that the prevalence in these populations may be higher. Clinical features: adult-onset, usually distal more than proximal limb muscle weakness, slowly progressing over decades with preserved walking. Lower limb muscle imaging showed a characteristic pattern of muscle involvement and fatty degeneration. Histopathological and electron microscopic analysis of patient muscle biopsies revealed myopathic findings with rimmed vacuoles and the presence of sarcoplasmic inclusions, some with amyloid-like characteristics. In silico predictions and subsequent cell culture studies showed that the missense mutations increase aggregation propensity of the SMPX protein. In cell culture studies, overexpressed SMPX localized to stress granules and slowed down their clearance.; Changed publications: 21549342, 21549336, 21893181, 22911656, 28542515, 33974137; Changed phenotypes: Deafness, X-linked 4, MIM# 300066, Distal myopathy, adult-onset | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4702 | SMPX | Zornitza Stark Marked gene: SMPX as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4702 | SMPX | Zornitza Stark Gene: smpx has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4702 | SMPX | Zornitza Stark Phenotypes for gene: SMPX were changed from to Deafness, X-linked 4, MIM# 300066 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4701 | SMPX | Zornitza Stark Publications for gene: SMPX were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4700 | SMPX | Zornitza Stark Mode of inheritance for gene: SMPX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.4699 | SMPX | Zornitza Stark reviewed gene: SMPX: Rating: GREEN; Mode of pathogenicity: None; Publications: 21549342, 21549336, 21893181, 22911656, 28542515; Phenotypes: Deafness, X-linked 4, MIM# 300066; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mendeliome v0.0 | SMPX |
Zornitza Stark gene: SMPX was added gene: SMPX was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: SMPX was set to Unknown |
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