Muscular dystrophy and myopathy_Paediatric

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

History Filter Activity

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: DYSF was added gene: DYSF was added to Muscular dystrophy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: DYSF was set to Unknown