Rhabdomyolysis and metabolic muscle disordersGene: FKRP
Comment when marking as ready: Associated with phenotype in OMIM and as a confirmed Developmental Disorder Gene / G2P. At least 9 variants reported.
Created: 2 Dec 2016, 11:28 a.m.
Comment on phenotypes: Also associated with Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5 613153, Muscular dystrophy-dystroglycanopathy (congenital with or without mental retardation), type B, 5 606612
Created: 2 Dec 2016, 11:27 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
Panel promoted to V1 4th January 2017
This gene has been classified as Green List (High Evidence).
Phenotypes for FKRP were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 5 607155
FKRP was added to Rhabdomyolysis and metabolic muscle disorderspanel. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN
FKRP was created by sleigh