Congenital myopathy
Gene: DYSF
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
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
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.
This gene has been classified as Red List (Low Evidence).
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
Mode of inheritance for DYSF was changed to BIALLELIC, autosomal or pseudoautosomal
DYSF was added to Congenital myopathypanel. Sources: Radboud University Medical Center, Nijmegen