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 |
|---|---|---|---|
| RS1588136441 | Health Risk | Likely pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS1829181339 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X |
| RS1830619461 | Health Risk | Likely pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS1833929015 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X |
| RS2132594628 | Health Risk | Likely pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS2132790782 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2132790961 | Health Risk | Likely pathogenic | — |
| RS2132802825 | Health Risk | Likely pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS2132901145 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X |
| RS2133209411 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X |
| RS2133453300 | Health Risk | Likely pathogenic | — |
| RS2538816628 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X |
| RS2538817095 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X |
| RS2538817582 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X |
| RS2538817842 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 |
| RS2539333959 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X |
| RS2539334508 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 |
| RS2539337600 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X |
| RS2539338375 | Health Risk | Likely pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS2539402514 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 |
| RS2539403350 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1X, Autosomal recessive limb-girdle muscular dystrophy type 2M, Dilated cardiomyopathy 1X |
| RS2539404585 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 |
| RS2539404849 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 |
| RS2539405255 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 |
| RS2539409439 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X |
| RS2539411480 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 |
| RS2539412353 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 |
| RS2539412643 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X |
| RS2539413215 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X |
| RS2539490128 | Health Risk | Likely pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS2539494660 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 |
| RS2539495737 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X |
| RS2539657265 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 |
| RS2539657876 | Health Risk | Likely pathogenic | See cases, See cases |
| RS2539708151 | Health Risk | Likely pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS2539708429 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X |
| RS2539709535 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X |
| RS2539710360 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2M, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 |
| RS2539711005 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X |
| RS2539711496 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X |
| RS2539712793 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X |
| RS2539712984 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X |
| RS267606814 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS370819786 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS557699482 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS758166890 | Health Risk | Likely pathogenic | Dilated cardiomyopathy 1X, Dilated cardiomyopathy 1X |
| RS764125009 | Health Risk | Likely pathogenic | Walker-Warburg congenital muscular dystrophy, Muscular dystrophy-dystroglycanopathy (congenital without intellectual disability), type B4 |
| RS765934383 | Health Risk | Likely pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |
| RS774922597 | Health Risk | Likely pathogenic | Walker-Warburg congenital muscular dystrophy, Walker-Warburg congenital muscular dystrophy |
| RS1057516258 | Health Risk | Pathogenic | Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 4 |