APTX

aprataxin
OMIM: 606350, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Green APTX in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.81

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia

Green APTX in Ataxia and cerebellar anomalies - narrow panel


Version 2.6
Signed off v.2.2 on 2 Mar 2020

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • Ataxia with Oculomotor Apraxia
    • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

    Green APTX in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.205

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • UKGTN
    • Radboud University Medical Center, Nijmegen
    • Illumina TruGenome Clinical Sequencing Services
    Phenotypes
    • Ataxia with Oculomotor Apraxia
    • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

    Red APTX in Neurodegenerative disorders - adult onset


    Version 2.4
    Signed off v.2.2 on 2 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Wessex and West Midlands GLH
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Ataxia with Oculomotor Apraxia
    • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
    • Dystonia

    Green APTX in Undiagnosed metabolic disorders

    Level 3: Specific metabolic abnormalities
    Level 2: Metabolic disorders
    Version 1.413

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
    • Disorders of ubiquinone metabolism and biosynthesis
    • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
    • Ataxia with oculomotor apraxia 1

    Green APTX in Inborn errors of metabolism


    Version 2.5
    Signed off v.2.3 on 17 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Secondary CoQ10 deficiency (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
    • Ataxia with oculomotor apraxia 1
    • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
    • Disorders of ubiquinone metabolism and biosynthesis

    Green APTX in Possible mitochondrial disorder - nuclear genes


    Version 1.14
    Signed off v.1.13 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920

    Red APTX in Fetal anomalies


    Version 1.3
    Signed off v.1.2 on 17 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • ATAXIA WITH OCULOMOTOR APRAXIA 1

    Green APTX in DDG2P


    Version 2.3
    Signed off v.2.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Green
    Phenotypes
    • ATAXIA WITH OCULOMOTOR APRAXIA 1 208920

    Green APTX in Hereditary neuropathy

    Level 3: Motor and Sensory Disorders of the PNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.368

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • South West GLH
    • NHS GMS
    • London North GLH
    • Emory Genetics Laboratory
    Phenotypes
    • Hereditary Neuropathies
    • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
    • ATAXIA WITH OCULOMOTOR APRAXIA 1

    Red APTX in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.24
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

  • Hypotonic infant
  • Paediatric disorders
  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
    • ATAXIA WITH OCULOMOTOR APRAXIA 1

    Green APTX in Mitochondrial disorders

    Level 3: Mitochondrial
    Level 2: Metabolic disorders
    Version 2.5
    Signed off v.2.4 on 17 Feb 2020

    Component of the following Super Panels:

  • White matter disorders - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    • Expert list
    Phenotypes
    • Disorders of ubiquinone metabolism and biosynthesis
    • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920
    • Ataxia with oculomotor apraxia 1

    Green APTX in Hereditary ataxia - adult onset


    Version 2.8
    Signed off v.2.7 on 10 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Wessex and West Midlands GLH
    • Expert Review Green
    • Hereditary ataxia v1.148
    Phenotypes
    • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia
    • Ataxia with Oculomotor Apraxia
    • Early onset ataxia with oculomotor apraxia and hypoalbuminemia

    Green APTX in Adult onset movement disorder


    Version 1.5
    Signed off v.1.2 on 2 Mar 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Dystonia

    Amber APTX in Hereditary neuropathy NOT PMP22 copy number


    Version 1.4
    Signed off v.1.2 on 27 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • South West GLH
    • Emory Genetics Laboratory
    • London North GLH
    • NHS GMS
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Hereditary Neuropathies
    • ATAXIA WITH OCULOMOTOR APRAXIA 1
    • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia

    Green APTX in Childhood onset dystonia or chorea or related movement disorder


    Version 1.4
    Signed off v.1.2 on 25 Feb 2020

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Dystonia
    • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920

    Green APTX in Severe Paediatric Disorders


    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ataxia, early-onset, with oculomotor apraxia and hypoalbuminemia, 208920