ANO5

anoctamin 5
OMIM: 608662, Gene2Phenotype

12 panels

Panel Reviews Mode of inheritance Details
12 panels
Green ANO5 in Distal myopathies

Level 3: Neuromuscular disorders
Level 2: Neurology and neurodevelopmental disorders
Version 4.3
Latest signed off version: v4.0 (1 May 2024)

Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Miyoshi muscular dystrophy 3, 613319
    Green ANO5 in Rhabdomyolysis and metabolic muscle disorders

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.4
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Miyoshi muscular dystrophy 3 613319
    • Muscular dystrophy, limb-girdle, type 2L 611307
    Red ANO5 in Congenital muscular dystrophy

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.24
    Latest signed off version: v4.23 (1 May 2024)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Miyoshi muscular dystrophy 3, OMIM:613319
    • Muscular dystrophy, limb-girdle, autosomal recessive 12, OMIM:611307
    Red ANO5 in Arthrogryposis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.7
    Latest signed off version: v6.0 (1 May 2024)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Illumina TruGenome Clinical Sequencing Services
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Gnathodiaphyseal dysplasia, 166260
    • Muscular dystrophy, limb-girdle, type 2L, 611307Miyoshi muscular dystrophy 3, 613319
    • Limb-Girdle Muscular Dystrophy, Recessive
    Green ANO5 in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.33
    Latest signed off version: v4.32 (1 May 2024)

    Component of the following Super Panels:

  • Hypotonic infant
  • Other rare neuromuscular disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review Green
    • Eligibility statement prior genetic testing
    • Illumina TruGenome Clinical Sequencing Services
    • Emory Genetics Laboratory
    • Radboud University Medical Center, Nijmegen
    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 ANO5 in Skeletal dysplasia

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 5.3
    Latest signed off version: v5.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Emory Genetics Laboratory
    Phenotypes
    • Gnathodiaphyseal dysplasia OMIM:166260
    • gnathodiaphyseal dysplasia MONDO:0008151
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias
    • skeletal dysplasias
    • Disproportionate Short Stature
    Red ANO5 in Fetal anomalies


    Version 4.1
    Latest signed off version: v4.0 (1 May 2024)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • MIYOSHI MUSCULAR DYSTROPHY TYPE 3
    • GNATHODIAPHYSEAL DYSPLASIA
    Red ANO5 in Osteogenesis imperfecta

    Level 3: Skeletal dysplasias
    Level 2: Skeletal disorders
    Version 4.5
    Latest signed off version: v4.0 (22 Mar 2023)

    review Not set
    Sources
    • Expert Review Red
    • Emory Genetics Laboratory
    Phenotypes
    • Osteogenesis Imperfecta and Decreased Bone Density
    • skeletal dysplasias
    • Disproportionate Short Stature
    Green ANO5 in DDG2P


    Version 4.3
    Latest signed off version: v4.0 (1 May 2024)

    Component of the following Super Panels:

  • Paediatric disorders
  • review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2L, OMIM:611307
    • GNATHODIAPHYSEAL DYSPLASIA, OMIM:166260
    Amber ANO5 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 6.13
    Latest signed off version: v6.0 (1 May 2024)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Gnathodiaphyseal dysplasia, 166260
    • Muscular dystrophy, limb-girdle, type 2L, 611307
    • Miyoshi muscular dystrophy 3, 613319
    Green ANO5 in Severe Paediatric Disorders


    Version 1.184

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Muscular dystrophy, limb-girdle, autosomal recessive 12, 611307
    • Miyoshi muscular dystrophy 3, 613319
    • Gnathodiaphyseal dysplasia, 166260
    Green ANO5 in Acute rhabdomyolysis

    Level 3: Neuromuscular disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.18
    Latest signed off version: v1.7 (31 May 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Muscular dystrophy, limb-girdle, autosomal recessive 12, OMIM:611307
    • Miyoshi muscular dystrophy 3, OMIM:613319