FKTN Chromosome 9
Fukutin
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What This Gene Does
The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]
Associated Conditions (23)
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies)
type A
4
Dilated cardiomyopathy 1X
Walker-Warburg congenital muscular dystrophy
Cardiovascular phenotype
Autosomal recessive limb-girdle muscular dystrophy type 2M
Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability)
type B4
FKTN-related disorder
Ventricular tachycardia
Cardiomyopathy
type A1
Hypertrophic cardiomyopathy
Myopathy caused by variation in FKTN
Clear cell carcinoma of kidney
Colon adenocarcinoma
Lymphoma
Familial cancer of breast
Muscular dystrophy-dystroglycanopathy
+3 more conditions
Key Variants
RS114655654
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Health Risk
RS115155934
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
Health Risk
RS115730708
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Health Risk
RS116107812
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Health Risk
RS116364105
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Health Risk
RS116549376
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A
Health Risk
RS117283748
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Health Risk
RS119463994
Conflicting classifications of pathogenicity
Dilated cardiomyopathy 1X, Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X
Health Risk
RS119464998
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Health Risk
RS1222153269
Conflicting classifications of pathogenicity
Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy
Health Risk
RS1293245717
Conflicting classifications of pathogenicity
Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4
Health Risk
RS1338220455
Conflicting classifications of pathogenicity
Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy
Health Risk
All Variants (219)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS376452959 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy |
| RS377417974 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS398123558 | Health Risk | Conflicting classifications of pathogenicity | — |
| RS41277795 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X |
| RS41277797 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS41277801 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS41313301 | Health Risk | Conflicting classifications of pathogenicity | Cardiomyopathy, Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype |
| RS537001725 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS558187116 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS564632018 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy |
| RS569778463 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability) |
| RS727502847 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Primary dilated cardiomyopathy, Walker-Warburg congenital muscular dystrophy |
| RS727502849 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS749557617 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, FKTN-related disorder, Walker-Warburg congenital muscular dystrophy |
| RS751473818 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy |
| RS752358445 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Primary familial dilated cardiomyopathy, Dilated cardiomyopathy 1X |
| RS752921570 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS755092516 | Health Risk | Conflicting classifications of pathogenicity | Hypertrophic cardiomyopathy, Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype |
| RS75971372 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS760933616 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, FKTN-related disorder |
| RS76180538 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS766642997 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy |
| RS768792475 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, FKTN-related disorder, Walker-Warburg congenital muscular dystrophy |
| RS773305645 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy |
| RS776639304 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS776724595 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy |
| RS780921233 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy |
| RS78462952 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS786205597 | Health Risk | Conflicting classifications of pathogenicity | Myopathy caused by variation in FKTN, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS79162268 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS79589823 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS797045577 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS79831528 | Health Risk | Conflicting classifications of pathogenicity | Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS886042241 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy |
| RS886042513 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy |
| RS886042778 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M |
| RS886044528 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS886063320 | Health Risk | Conflicting classifications of pathogenicity | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS997235832 | Health Risk | Conflicting classifications of pathogenicity | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Walker-Warburg congenital muscular dystrophy |
| RS1057516966 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS1057517160 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS119463995 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS119464997 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS1218736157 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1X, Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X |
| RS1257495645 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X |
| RS1272573854 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies) |
| RS1383324318 | Health Risk | Likely pathogenic | Cardiovascular phenotype, Dilated cardiomyopathy 1X, Cardiovascular phenotype |
| RS1554752805 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS1554752862 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 |
| RS1554766808 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |