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 |
|---|---|---|---|
| RS1554924356 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS1554929292 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Gnathodiaphyseal dysplasia |
| RS1554933716 | Health Risk | Pathogenic | — |
| RS1564922516 | Health Risk | Pathogenic | — |
| RS1564930625 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy |
| RS1564936489 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Miyoshi muscular dystrophy 3, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS1590266227 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS1852636503 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS1852874979 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS1853968715 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS1854124484 | Health Risk | Pathogenic | — |
| RS1854126127 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS201725369 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Miyoshi muscular dystrophy 3 |
| RS2133663216 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS2133704072 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS2133738890 | Health Risk | Pathogenic | — |
| RS2133747497 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS2133747657 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS2133800091 | Health Risk | Pathogenic | — |
| RS2494118752 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS2494141839 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS2494261394 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS2494318394 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS2494319408 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS2494319481 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS2494324095 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS2494363622 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS2494386440 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS281865480 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Miyoshi muscular dystrophy 3 |
| RS368389717 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS372221490 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS373814281 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS397514736 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Gnathodiaphyseal dysplasia |
| RS398124626 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Miyoshi muscular dystrophy 3, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS566415362 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, ANO5-related disorder |
| RS570341380 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS746738154 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS747146523 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS749645231 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS754889480 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Miyoshi muscular dystrophy 3 |
| RS759064817 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS762946781 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS765262083 | Health Risk | Pathogenic | — |
| RS765427574 | Health Risk | Pathogenic | — |
| RS766994696 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |
| RS768835530 | Health Risk | Pathogenic | Miyoshi muscular dystrophy 3, Miyoshi muscular dystrophy 3 |
| RS776859202 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Miyoshi muscular dystrophy 3 |
| RS780201679 | Health Risk | Pathogenic | Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L |
| RS794727158 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Autosomal recessive limb-girdle muscular dystrophy |
| RS794727231 | Health Risk | Pathogenic | Gnathodiaphyseal dysplasia, Autosomal recessive limb-girdle muscular dystrophy type 2L, Gnathodiaphyseal dysplasia |