Limb-Girdle Muscular Dystrophy and Distal Myopathy

Gene: DYSF

Green List (high evidence)

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

2 reviews

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

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

Well reported in families with limb girdle muscular dystrophy.
Created: 17 Jun 2020, 6:03 a.m. | Last Modified: 17 Jun 2020, 6:03 a.m.
Panel Version: 0.4

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 2 (MIM#253601)

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Royal Melbourne Hospital
Phenotypes
  • Myopathy, distal, with anterior tibial onset, 606768
  • Miyoshi muscular dystrophy 1, 254130
  • Muscular dystrophy, limb-girdle, type 2B, 253601
OMIM
603009
Clinvar variants
Variants in DYSF
Penetrance
None
Publications
Panels with this gene

History Filter Activity

17 Jun 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

17 Jun 2020, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: DYSF were set to

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