Muscular dystrophy and myopathy_Paediatric
Gene: DYSF
DYSF (dysferlin)
EnsemblGeneIds (GRCh38): ENSG00000135636
EnsemblGeneIds (GRCh37): ENSG00000135636
OMIM: 603009, Gene2Phenotype
DYSF is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000135636
EnsemblGeneIds (GRCh37): ENSG00000135636
OMIM: 603009, Gene2Phenotype
DYSF is in 9 panels
1 review
Elena Savva (Victorian Clinical Genetics Services)
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
- PMID: 27602406
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Victorian Clinical Genetics Services
- Expert Review Green
- OMIM
- 603009
- Clinvar variants
- Variants in DYSF
- Penetrance
- None
- Panels with this gene
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