ANO5

PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
GNATHODIAPHYSEAL DYSPLASIA 166260, LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L 611307, MIYOSHI MUSCULAR DYSTROPHY TYPE 3 613319
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.21
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Miyoshi muscular dystrophy 3, 613319
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
R-numbers: R82
Signed-off version 2.4
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
Component of the following Super Panels:
  • - Hypotonic infant
  • - Neuromuscular disorders
Signed-off version 1.34
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Miyoshi muscular dystrophy 3 613319, Muscular dystrophy, limb-girdle, type 2L 611307
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gnatodiaphyseal dysplasia, Osteogenesis Imperfecta and Decreased Bone Density, skeletal dysplasias, skeletal dysplasias, Disproportionate Short Stature