Distal myopathies

Gene: SMPX

No list

SMPX (small muscle protein, X-linked)
EnsemblGeneIds (GRCh38): ENSG00000091482
EnsemblGeneIds (GRCh37): ENSG00000091482
OMIM: 300226, Gene2Phenotype
SMPX is in 3 panels

1 review

Dmitrijs Rots (RadboudUMC)

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

Details

Mode of Inheritance
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
Phenotypes
  • Distal myopathy
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

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 (RadboudUMC)

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