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 |
|---|---|---|---|
| RS535319996 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS541372136 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS550454492 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS575008764 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Autosomal recessive limb-girdle muscular dystrophy |
| RS747933251 | Health Risk | Conflicting classifications of pathogenicity | Myopathy, ANO5-Related Muscle Diseases, Gnathodiaphyseal dysplasia |
| RS749698519 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, ANO5-Related Muscle Diseases |
| RS750804063 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS751028884 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, ANO5-Related Muscle Diseases |
| RS752534913 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS752982710 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS753416246 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS753667370 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, ANO5-related disorder |
| RS755092814 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS759370330 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS760792371 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Miyoshi muscular dystrophy 3 |
| RS761949902 | Health Risk | Conflicting classifications of pathogenicity | ANO5-Related Muscle Diseases, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS763783201 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS764261431 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS767479331 | Health Risk | Conflicting classifications of pathogenicity | ANO5-Related Muscle Diseases, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS768691315 | Health Risk | Conflicting classifications of pathogenicity | Myopathy, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS770721931 | Health Risk | Conflicting classifications of pathogenicity | ANO5-Related Muscle Diseases, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS772929002 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, ANO5-related disorder |
| RS773048192 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS775383795 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS777519959 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS777607869 | Health Risk | Conflicting classifications of pathogenicity | ANO5-Related Muscle Diseases, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS778435515 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS778772732 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Inborn genetic diseases |
| RS781027702 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Limb-girdle muscular dystrophy |
| RS781074405 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS781734224 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS886042624 | Health Risk | Conflicting classifications of pathogenicity | ANO5-Related Muscle Diseases, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS886042647 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Inborn genetic diseases |
| RS886042751 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS886042907 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Inborn genetic diseases |
| RS886042923 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS886044133 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS886044360 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS926233739 | Health Risk | Conflicting classifications of pathogenicity | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Miyoshi muscular dystrophy 3 |
| RS997655691 | Health Risk | Conflicting classifications of pathogenicity | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS1057518855 | Health Risk | Likely pathogenic | Myopathy, Gnathodiaphyseal dysplasia, Myopathy |
| RS1187037268 | Health Risk | Likely pathogenic | — |
| RS1187569251 | Health Risk | Likely pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS1379042100 | Health Risk | Likely pathogenic | — |
| RS139344099 | Health Risk | Likely pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, ANO5-Related Muscle Diseases |
| RS1415324050 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS1554927050 | Health Risk | Likely pathogenic | — |
| RS1554930314 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS1564918396 | Health Risk | Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS1590266513 | Health Risk | Likely pathogenic | Gnathodiaphyseal dysplasia, Gnathodiaphyseal dysplasia |