ANO5 Chromosome 11
Anoctamin 5
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What This Gene Does
This gene encodes a member of the anoctamin family of transmembrane proteins. The encoded protein is likely a calcium activated chloride channel. Mutations in this gene have been associated with gnathodiaphyseal dysplasia. Alternatively spliced transcript variants have been described. [provided by RefSeq, Nov 2009]
Gene Info
Gene Group
Anoctamins
Locus Type
gene with protein product
Location
11p14.3
Ensembl
ENSG00000171714
Associated Conditions (29)
Gnathodiaphyseal dysplasia
Autosomal recessive limb-girdle muscular dystrophy type 2L
Inborn genetic diseases
ANO5-related disorder
Miyoshi muscular dystrophy 3
ANO5-Related Muscle Diseases
Clear cell carcinoma of kidney
Thyroid cancer
nonmedullary
1
Intellectual disability
Autosomal recessive limb-girdle muscular dystrophy
Limb-girdle muscular dystrophy
Myopathy
Fatty replacement of skeletal muscle
Distal muscle weakness
Elevated circulating creatine kinase concentration
Muscular dystrophy
Polycystic kidney disease
Achilles tendon contracture
+9 more conditions
Key Variants
RS1010958758
Conflicting classifications of pathogenicity
Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Inborn genetic diseases
Health Risk
RS1029543909
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
Health Risk
RS1257688225
Conflicting classifications of pathogenicity
Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
Health Risk
RS1323349209
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Miyoshi muscular dystrophy 3
Health Risk
RS139259793
Conflicting classifications of pathogenicity
Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
Health Risk
RS140903276
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, ANO5-Related Muscle Diseases
Health Risk
RS1410381664
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L
Health Risk
RS141799673
Conflicting classifications of pathogenicity
Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Intellectual disability
Health Risk
RS142073798
Conflicting classifications of pathogenicity
Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, ANO5-related disorder
Health Risk
RS142126223
Conflicting classifications of pathogenicity
ANO5-Related Muscle Diseases, ANO5-Related Muscle Diseases
Health Risk
RS142858990
Conflicting classifications of pathogenicity
Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, ANO5-Related Muscle Diseases
Health Risk
RS143331003
Conflicting classifications of pathogenicity
Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia
Health Risk
All Variants (237)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS1590300702 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS1852640009 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS1852871649 | Health Risk | Likely pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS1853361649 | Health Risk | Likely pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS1853786211 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS1853966406 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS201463445 | Health Risk | Likely pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS2133702263 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS2133730668 | Health Risk | Likely pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS2133750487 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS2133778981 | Health Risk | Likely pathogenic | — |
| RS2133795361 | Health Risk | Likely pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS2494261439 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS2494305988 | Health Risk | Likely pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS2494306436 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS2494324455 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS2494386556 | Health Risk | Likely pathogenic | Miyoshi muscular dystrophy 3, Miyoshi muscular dystrophy 3 |
| RS2494790954 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS375867377 | Health Risk | Likely pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS747719953 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Gnathodiaphyseal dysplasia |
| RS758847803 | Health Risk | Likely pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS760033003 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS773736505 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS776474397 | Health Risk | Likely pathogenic | Elevated circulating creatine kinase concentration, Elevated circulating creatine kinase concentration |
| RS780109230 | Health Risk | Likely pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS794727350 | Health Risk | Likely pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Autosomal recessive limb-girdle muscular dystrophy |
| RS886042556 | Health Risk | Likely pathogenic | — |
| RS886044915 | Health Risk | Likely pathogenic | Elevated circulating creatine kinase concentration, Elevated circulating creatine kinase concentration |
| RS1004072211 | Health Risk | Pathogenic | — |
| RS1064793358 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS1168346560 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Miyoshi muscular dystrophy 3 |
| RS1176480523 | Health Risk | Pathogenic | — |
| RS119103234 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Gnathodiaphyseal dysplasia, Gnathodiaphyseal dysplasia |
| RS1191668273 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS1230152194 | Health Risk | Pathogenic | — |
| RS1302414683 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS1308707703 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS1335126943 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Gnathodiaphyseal dysplasia |
| RS1364860348 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS137854521 | Health Risk | Pathogenic | Miyoshi muscular dystrophy 3, Autosomal recessive limb-girdle muscular dystrophy type 2L, Myopathy |
| RS137854524 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Miyoshi muscular dystrophy 3, Gnathodiaphyseal dysplasia |
| RS137854527 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Autosomal recessive limb-girdle muscular dystrophy |
| RS137854528 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS137854529 | Health Risk | Pathogenic | Miyoshi muscular dystrophy 3, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS139639078 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS1403946332 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS142027093 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Miyoshi muscular dystrophy 3 |
| RS145127621 | Health Risk | Pathogenic | — |
| RS1458677325 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS146341538 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, ANO5-Related Muscle Diseases |