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| Distal myopathies v4.3 | SMPX |
Achchuthan Shanmugasundram Tag Q3_23_promote_green was removed from gene: SMPX. Tag Q3_23_MOI was removed from gene: SMPX. |
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| Distal myopathies v4.3 | SMPX | Eleanor Williams reviewed gene: SMPX: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v4.2 | SMPX |
Achchuthan Shanmugasundram 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) |
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| Distal myopathies v3.8 | SMPX |
Sarah Leigh Tag Q3_23_promote_green tag was added to gene: SMPX. Tag Q3_23_MOI tag was added to gene: SMPX. |
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| Distal myopathies v3.8 | SMPX | Sarah Leigh edited their review of gene: SMPX: Added comment: 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.; Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v3.8 | SMPX | Sarah Leigh 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v3.7 | SMPX | Sarah Leigh Publications for gene: SMPX were set to PMID: 33974137 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v3.6 | SMPX | Sarah Leigh Classified gene: SMPX as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v3.6 | SMPX | Sarah Leigh Added comment: Comment on list classification: There is enough evidence for this gene to be rated GREEN at the next major review. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v3.6 | SMPX | Sarah Leigh Gene: smpx has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Distal myopathies v1.38 | SMPX |
Dmitrijs Rots 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 Added comment: Hemizygous variants in 10 patients from 9 families with functional data. Sources: Literature |
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