Rhabdomyolysis and metabolic muscle disordersGene: DYSF
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. Numerous variants reported.
Created: 2 Dec 2016, 11:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Miyoshi muscular dystrophy 1 254130; Muscular dystrophy, limb-girdle, type 2B 253601; Myopathy, distal, with anterior tibial onset 606768
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
DYSF was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen
DYSF was created by sleigh