Congenital myopathy
Gene: DYSFEnsemblGeneIds (GRCh38): ENSG00000135636
EnsemblGeneIds (GRCh37): ENSG00000135636
OMIM: 603009, Gene2Phenotype
DYSF is in 7 panels
2 reviews
Anna Sarkozy (Great Ormond Street Hospital)
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Miyoshi muscular dystrophy 1 254130; Muscular dystrophy, limb-girdle, type 2B 253601; Myopathy, distal, with anterior tibial onset 606768
Helen Brittain (Genomics England Curator)
Comment when marking as ready: Phenotypes are associated with significantly raised CK and dystrophic changes on muscle biopsy. Therefore more appropriate for a muscular dystrophy panel.Created: 3 Feb 2017, 11:54 a.m.
Phenotypes are associated with significantly raised CK and dystrophic changes on muscle biopsy. Therefore more appropriate for a muscular dystrophy panel.Created: 30 Jan 2017, 3:45 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Miyoshi muscular dystrophy 1 254130; Muscular dystrophy, limb-girdle, type 2B 253601; Myopathy, distal, with anterior tibial onset 606768
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Miyoshi muscular dystrophy 1 254130
- Muscular dystrophy, limb-girdle, type 2B 253601
- Myopathy, distal, with anterior tibial onset 606768
- OMIM
- 603009
- Clinvar variants
- Variants in DYSF
- Penetrance
- Complete
- Panels with this gene
History Filter Activity
panel promoted to version 1
Helen Brittain (Genomics England Curator)Promoted 22/02/2017 after curation discussion and further review with members of the Genomics England curation team. Participants who are offered this panel will automatically be offered the following three panels: 1) Congenital muscular dystrophy 2) Congenital myasthenia and 3) Paediatric motor neuronopathy as this will cover a large range of differentials for a weak infant, for where the strict inclusion criteria are not applicable in view of the availability of muscle biopsy testing in peripheral paediatric units.
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Red List (Low Evidence).
Set Phenotypes
Helen Brittain (Genomics England Curator)Phenotypes for DYSF were set to Miyoshi muscular dystrophy 1 254130; Muscular dystrophy, limb-girdle, type 2B 253601; Myopathy, distal, with anterior tibial onset 606768
Set Mode of Inheritance
Helen Brittain (Genomics England Curator)Mode of inheritance for DYSF was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
GEL ()DYSF was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen