Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Gene: DYSF

DYSF (dysferlin)
EnsemblGeneIds (GRCh38): ENSG00000135636
EnsemblGeneIds (GRCh37): ENSG00000135636
OMIM: 603009, Gene2Phenotype
DYSF is in 7 panels

2 reviews

Cassandra Smith (Genomics England)

I don't know

Amber rating relevant to monoallelic mode of inheritance

PMID: 35962550 - Single family reported with a heterozygous frameshift variant in the last exon segregating with a later onset dysferlinopathy. mRNA produced from the allele carrying the variant shown not to undergo nonsense mediated decay. Study of muscle biopsy from affected members show reduction in dysferlin. Speculated a dominant negative mechanism
Created: 2 Jun 2026, 7:36 p.m. | Last Modified: 2 Jun 2026, 7:36 p.m.

Panel Version: 6.1

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

PMID: 35962550
39511170

Created: 2 Jun 2026, 7:36 p.m.
Last Modified: 2 Jun 2026, 7:36 p.m.
Panel version: 6.1

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve Abbs
Created: 27 Jul 2016, 8:22 a.m.

Created: 27 Jul 2016, 8:22 a.m.

Panel version: 0.116

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Illumina TruGenome Clinical Sequencing Services
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory

Phenotypes

Muscular dystrophy, limb-girdle, type 2B, 253601Myopathy, distal, with anterior tibial onset, 606768Miyoshi muscular dystrophy 1, 254130
Limb-Girdle Muscular Dystrophy, Recessive
Limb-girdle muscular dystrophy

OMIM

603009

Clinvar variants

Variants in DYSF

Penetrance

Complete

Publications

http://www.ncbi.nlm.nih.gov/books/NBK1408/

Panels with this gene

History Filter Activity

27 Jul 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Comments from Fiona Karet included. A Green review for each gene relevant for this panel on the Gene Advisor download has been included.

27 May 2016, Gel status: 4

Gene classified by Genomics England curator

Ellen Thomas (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

27 May 2016, Gel status: 3

Set publications

Ellen Thomas (Genomics England Curator)

Publications for DYSF were set to http://www.ncbi.nlm.nih.gov/books/NBK1408/

28 Jul 2015, Gel status: 3