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 |
|---|---|---|---|
| RS794727745 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy, Autosomal recessive limb-girdle muscular dystrophy |
| RS794727981 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS797044667 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS886042442 | Health Risk | Pathogenic | — |
| RS886043074 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS886044020 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy |
| RS1233836740 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS1254796261 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS137854523 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, ANO5-related disorder, Gnathodiaphyseal dysplasia |
| RS137854526 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Abnormality of the musculature |
| RS1380525804 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS1383346134 | Health Risk | Pathogenic/Likely pathogenic | Miyoshi muscular dystrophy 3, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS139618850 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Miyoshi muscular dystrophy 3 |
| RS1486335553 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS1488095558 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS1554929301 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS1554930267 | Health Risk | Pathogenic/Likely pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS1590331573 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS188150039 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS199501657 | Health Risk | Pathogenic/Likely pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Autosomal recessive limb-girdle muscular dystrophy |
| RS2133589044 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Miyoshi muscular dystrophy 3 |
| RS2494255442 | Health Risk | Pathogenic/Likely pathogenic | — |
| RS281865464 | Health Risk | Pathogenic/Likely pathogenic | Miyoshi muscular dystrophy 3, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS368970223 | Health Risk | Pathogenic/Likely pathogenic | Muscular dystrophy, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS398124625 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS561719071 | Health Risk | Pathogenic/Likely pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Autosomal recessive limb-girdle muscular dystrophy |
| RS563666662 | Health Risk | Pathogenic/Likely pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS753138577 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS760137559 | Health Risk | Pathogenic/Likely pathogenic | Elevated circulating creatine kinase concentration, Fatty replacement of skeletal muscle, Distal muscle weakness |
| RS762035813 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS762874007 | Health Risk | Pathogenic/Likely pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS770694933 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, ANO5-related disorder |
| RS868734578 | Health Risk | Pathogenic/Likely pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS878854367 | Health Risk | Pathogenic/Likely pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS886043172 | Health Risk | Pathogenic/Likely pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Miyoshi muscular dystrophy 3 |
| RS886043327 | Health Risk | Pathogenic/Likely pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS912174567 | Health Risk | Pathogenic/Likely pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Autosomal recessive limb-girdle muscular dystrophy |