Rhabdomyolysis and Metabolic Myopathy

Gene: DYSF

Green List (high evidence)

DYSF (dysferlin)
EnsemblGeneIds (GRCh38): ENSG00000135636
EnsemblGeneIds (GRCh37): ENSG00000135636
OMIM: 603009, Gene2Phenotype
DYSF is in 9 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

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

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

14 Apr 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: dysf has been classified as Green List (High Evidence).

14 Apr 2023, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: DYSF were set to

14 Jan 2020, Gel status: 3

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