Genomics England
GMS Panels
Panels
Genes and Entities

ANO5

anoctamin 5
OMIM: 608662
PanelMode of inheritanceDetails
6 panels
Green
in Acute rhabdomyolysis
R-numbers: R419
Signed-off version 1.7
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 12, OMIM:611307, Miyoshi muscular dystrophy 3, OMIM:613319
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307, GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260
Green
in Distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 4.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Miyoshi muscular dystrophy 3, 613319
Green
in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
R-numbers: R82
Signed-off version 4.33
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gnathodiaphyseal dysplasia, 166260, Muscular dystrophy, limb-girdle, type 2L, 611307, Miyoshi muscular dystrophy 3, 613319, Limb-girdle muscular dystrophy, Limb-Girdle Muscular Dystrophy, Recessive, Limb-girdle muscular dystrophy
Green
in Rhabdomyolysis and metabolic muscle disorders
Component of the following Super Panels:
  • - Hypotonic infant
  • - Other rare neuromuscular disorders
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Miyoshi muscular dystrophy 3 613319, Muscular dystrophy, limb-girdle, type 2L 611307
Green
in Skeletal dysplasia
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Gnathodiaphyseal dysplasia OMIM:166260, gnathodiaphyseal dysplasia MONDO:0008151, Osteogenesis Imperfecta and Decreased Bone Density, skeletal dysplasias, skeletal dysplasias, Disproportionate Short Stature