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 |
|---|---|---|---|
| RS1554754182 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS1554761402 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS1554761462 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS1564284467 | Health Risk | Pathogenic/Likely pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS1564301594 | Health Risk | Pathogenic/Likely pathogenic | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Dilated cardiomyopathy 1X |
| RS1588112379 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS1588222602 | Health Risk | Pathogenic/Likely pathogenic | Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X, Walker-Warburg congenital muscular dystrophy |
| RS1588315166 | Health Risk | Pathogenic/Likely pathogenic | Walker-Warburg congenital muscular dystrophy, Cardiovascular phenotype, Dilated cardiomyopathy 1X |
| RS1826858068 | Health Risk | Pathogenic/Likely pathogenic | Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability) |
| RS1828477244 | Health Risk | Pathogenic/Likely pathogenic | Dilated cardiomyopathy 1X, Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X |
| RS2132800044 | Health Risk | Pathogenic/Likely pathogenic | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A |
| RS2133163213 | Health Risk | Pathogenic/Likely pathogenic | Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X, Walker-Warburg congenital muscular dystrophy |
| RS2539659214 | Health Risk | Pathogenic/Likely pathogenic | Dilated cardiomyopathy 1X, Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X |
| RS2539750587 | Health Risk | Pathogenic/Likely pathogenic | Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X, Walker-Warburg congenital muscular dystrophy |
| RS398123557 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS750176716 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS760731888 | Health Risk | Pathogenic/Likely pathogenic | Walker-Warburg congenital muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability) |
| RS767865405 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS958678700 | Health Risk | Pathogenic/Likely pathogenic | Walker-Warburg congenital muscular dystrophy, Dilated cardiomyopathy 1X, Walker-Warburg congenital muscular dystrophy |