Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: FKTN
Well-established gene-disease association. Biallelic expected loss of function variants cause disease. A continuum of phenotypes ranges from the more severe muscle-eye-brain disease, Fukuyama-type congenital muscular dystrophy and Walker-Warburg syndrome to the milder forms of limb-girdle muscular dystrophy and cardiomyopathy. There are Japanese (c.*4392_*4393insAB185332.1) and Korean (c.647+2084G>T) founder mutations that will not be detected by all sequencing techniques.Created: 10 May 2022, 10:50 p.m. | Last Modified: 10 May 2022, 10:50 p.m.
Panel Version: 0.14067
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy-dystroglycanopathy MONDO:0018276
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: fktn has been classified as Green List (High Evidence).
Publications for gene: FKTN were set to
gene: FKTN was added gene: FKTN was added to Limb Girdle Muscular Dystrophy_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: FKTN was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FKTN were set to Muscular dystrophy-dystroglycanopathy (with brain and eye anomalies), 253800; Muscular dystrophy-dystroglycanopathy (without mental retardation), 613152; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 4, 611588; Cardiomyopathy, dilated, 1X, 611615