Limb-Girdle Muscular Dystrophy and Distal Myopathy
Gene: FKTNEnsemblGeneIds (GRCh38): ENSG00000106692
EnsemblGeneIds (GRCh37): ENSG00000106692
OMIM: 607440, Gene2Phenotype
FKTN is in 21 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Royal Melbourne Hospital
- Phenotypes
-
- 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
- OMIM
- 607440
- Clinvar variants
- Variants in FKTN
- Penetrance
- None
- Publications
- Panels with this gene
-
- Cerebellar and Pontocerebellar Hypoplasia
- Rhabdomyolysis and Metabolic Myopathy
- Mackenzie's Mission_Reproductive Carrier Screening
- Cobblestone Malformations
- Prepair 1000+
- Cardiomyopathy_Paediatric
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Hydrocephalus_Ventriculomegaly
- Muscular dystrophy and myopathy_Paediatric
- Limb-Girdle Muscular Dystrophy and Distal Myopathy
- Congenital Disorders of Glycosylation
- Fetal anomalies
- Additional findings_Paediatric
- Arthrogryposis
- Mendeliome
- Dilated Cardiomyopathy
- Cataract
- Prepair 500+
- Callosome
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: fktn has been classified as Green List (High Evidence).
Set publications
Bryony Thompson (Royal Melbourne Hospital)Publications for gene: FKTN were set to
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)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