Rhabdomyolysis and Metabolic Myopathy
Gene: DYSFEnsemblGeneIds (GRCh38): ENSG00000135636
EnsemblGeneIds (GRCh37): ENSG00000135636
OMIM: 603009, Gene2Phenotype
DYSF is in 9 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
No genotype-phenotype correlation. Variants reported in patients with both MMD and Limb girdle (OMIM). PMID: 27602406 - mutation type, protein expression, age of onset - no pattern in disease.Created: 9 Jul 2020, 4 a.m. | Last Modified: 9 Jul 2020, 4 a.m.
Panel Version: 0.3281
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Miyoshi muscular dystrophy 1 254130; Muscular dystrophy, limb-girdle, autosomal recessive 2 253601; Myopathy, distal, with anterior tibial onset 606768
Publications
- PMID: 27602406
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- Muscular dystrophy, limb-girdle, type 2B 253601
- Myopathy, distal, with anterior tibial onset 606768
- Miyoshi muscular dystrophy 1 254130
- OMIM
- 603009
- Clinvar variants
- Variants in DYSF
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: dysf has been classified as Green List (High Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: DYSF were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: DYSF was added gene: DYSF was added to Rhabdomyolysis_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DYSF were set to Muscular dystrophy, limb-girdle, type 2B 253601; Myopathy, distal, with anterior tibial onset 606768; Miyoshi muscular dystrophy 1 254130