1. Genes and Genomic Entities
  2. ANO3

ANO3

anoctamin 3
OMIM: 610110, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels
Red ANO3 in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.128

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Dystonia 24, 615034
  • familial form of cranio-cervical dystonia
Green ANO3 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.152

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Expert
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Dystonia 24, 615034
  • familial form of cranio-cervical dystonia
Red ANO3 in Adult onset neurodegenerative disorder


Level 2: Neurology
Version 8.19
Latest signed off version: v8.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • Dystonia 24, 615034
  • familial form of cranio-cervical dystonia
Red ANO3 in DDG2P


Version 6.438
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • ANO3-related dystonia, OMIM:615034
    Red ANO3 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.330
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Dystonia 24 615034
    Green ANO3 in Adult onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 5.5
    Latest signed off version: v5.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Dystonia 24 OMIM:615034
    • dystonia 24 MONDO:0014019
    Green ANO3 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.17
    Latest signed off version: v7.0 (30 Apr 2025)

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Dystonia 24, 615034
    • familial form of cranio-cervical dystonia