DYSF

PanelMode of inheritanceDetails
4 panels
R-numbers: R419
Signed-off version 1.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Miyoshi muscular dystrophy 1, OMIM:254130, Myopathy, distal, with anterior tibial onset, OMIM:606768, Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Miyoshi muscular dystrophy 1, 254130
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, type 2B, 253601Myopathy, distal, with anterior tibial onset, 606768Miyoshi muscular dystrophy 1, 254130, Limb-Girdle Muscular Dystrophy, Recessive, Limb-girdle muscular dystrophy
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Miyoshi muscular dystrophy 1, OMIM:254130, Muscular dystrophy, limb-girdle, autosomal recessive 2, OMIM:253601, Myopathy, distal, with anterior tibial onset, OMIM:606768