ANO5

PanelMode of inheritanceDetails
6 panels
R-numbers: R419
Signed-off version 1.1
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 3.1
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 2.1
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 3.1
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 2.1
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 3.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Gnathodiaphyseal dysplasia OMIM:166260, gnathodiaphyseal dysplasia MONDO:0008151, Osteogenesis Imperfecta and Decreased Bone Density, skeletal dysplasias, skeletal dysplasias, Disproportionate Short Stature