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  2. Acute rhabdomyolysis
  3. DYSF
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Acute rhabdomyolysis

Gene: DYSF

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

1 review

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.
Created: 16 Feb 2022, 2:31 p.m. | Last Modified: 16 Feb 2022, 2:31 p.m.
Panel Version: 0.6
Created: 16 Feb 2022, 2:31 p.m.
Last Modified: 16 Feb 2022, 2:31 p.m.
Panel version: 0.6

Details

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

History Filter Activity

19 Jan 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Arina Puzriakova (Genomics England Curator)

gene: DYSF was added gene: DYSF was added to Acute rhabdomyolysis. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: DYSF was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: DYSF were set to 17287450; 18306167; 15477515 Phenotypes for gene: DYSF were set to Miyoshi muscular dystrophy 1, OMIM:254130; Myopathy, distal, with anterior tibial onset, OMIM:606768; Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601