ATP13A2

ATPase 13A2
OMIM: 610513, Gene2Phenotype

20 panels

Panel Reviews Mode of inheritance Details
20 panels

Red ATP13A2 in Glaucoma (developmental)

Level 3: Anterior segment abnormalities
Level 2: Ophthalmological disorders
Version 1.39

review Not set
Sources
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Eye Disorders

Green ATP13A2 in Parkinson Disease and Complex Parkinsonism

Level 3: Neurodegenerative disorders
Level 2: Neurology and neurodevelopmental disorders
Version 1.70

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Parkinson disease 9, 606693
  • Kufor-Rakeb Syndrome

Green ATP13A2 in Early onset dystonia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.89

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
  • Parkinson disease
  • Kufor-Rakeb syndrome

Amber ATP13A2 in Lysosomal storage disorder


Version 1.74
Latest signed off version: v1.2 (18 Feb 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spastic paraplegia 78, autosomal recessive OMIM:617225
  • autosomal recessive spastic paraplegia type 78 MONDO:0014975
Tags
  • Q2_21_rating

Green ATP13A2 in Neuronal ceroid lipofuscinosis


Version 1.23
Latest signed off version: v1.3 (15 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Kufor-Rakeb syndrome OMIM:606693
  • Kufor-Rakeb syndrome MONDO:0011706

Green ATP13A2 in Structural basal ganglia disorders

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.19

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Kufor-Rakeb syndrome 606693

Green ATP13A2 in Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.259

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Adult-onset lower-limb predominant spastic paraparesis
  • Spastic paraplegia 78, autosomal recessive, 617225
  • complicated hereditary spastic paraplegia

Green ATP13A2 in Hereditary spastic paraplegia - childhood onset


Version 2.84
Latest signed off version: v2.18 (8 Oct 2020)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • Literature
Phenotypes
  • Adult-onset lower-limb predominant spastic paraparesis
  • Spastic paraplegia 78, autosomal recessive, 617225
  • complicated hereditary spastic paraplegia

Green ATP13A2 in Hereditary spastic paraplegia - adult onset


Version 1.73
Latest signed off version: v1.27 (5 Aug 2021)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • South West GLH
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Kufor-Rakeb syndrome, 606693 AR
  • Adult-onset lower-limb predominant spastic paraparesis
  • Spastic paraplegia 78, autosomal recessive, 617225
  • complicated hereditary spastic paraplegia

Green ATP13A2 in Neurodegenerative disorders - adult onset


Version 2.200
Latest signed off version: v2.178 (5 Aug 2021)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
Phenotypes
  • Kufor-Rakeb syndrome, OMIM:606693
  • Dystonia
  • Spastic paraplegia 78, autosomal recessive, OMIM:617225

Green ATP13A2 in Undiagnosed metabolic disorders

Level 3: Specific metabolic abnormalities
Level 2: Metabolic disorders
Version 1.486

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Kufor-Rakeb syndrome 606693
  • Spastic paraplegia 78, autosomal recessive 617225

Green ATP13A2 in Inborn errors of metabolism


Version 2.187
Latest signed off version: v2.3 (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
    • Kufor-Rakeb syndrome

    Red ATP13A2 in Fetal anomalies


    Version 1.728
    Latest signed off version: v1.92 (21 Aug 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • PARKINSON DISEASE 9

    Green ATP13A2 in DDG2P


    Version 2.49
    Latest signed off version: v2.2 (13 Feb 2020)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • PARKINSON DISEASE 9 606693

    Green ATP13A2 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.1367
    Latest signed off version: v3.2 (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 Green
    Phenotypes
    • PARKINSON DISEASE 9

    Red ATP13A2 in Retinal disorders

    Level 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 2.219
    Latest signed off version: v2.195 (5 Aug 2021)

    review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Eye Disorders

    Red ATP13A2 in Structural eye disease


    Version 1.83
    Latest signed off version: v1.3 (4 Mar 2020)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • KUFOR-RAKEB SYNDROME, 606693
    • SPASTIC PARAPLEGIA 78, AUTOSOMAL RECESSIVE, 617225
    • Eye Disorders

    Green ATP13A2 in Adult onset movement disorder


    Version 1.123
    Latest signed off version: v1.121 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • London North GLH
    • Expert Review Green
    Phenotypes
    • Kufor-Rakeb Syndrome OMIM:606693
    • Kufor-Rakeb syndrome MONDO:0011706

    Green ATP13A2 in Childhood onset dystonia or chorea or related movement disorder


    Version 1.157
    Latest signed off version: v1.137 (5 Aug 2021)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • PanelApp
    • Expert Review Green
    • London North GLH
    Phenotypes
    • Kufor-Rakeb syndrome 606693
    • Parkinson disease
    • Dystonia

    Green ATP13A2 in Severe Paediatric Disorders


    Version 1.84

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spastic paraplegia 78, autosomal recessive, 617225
    • Kufor-Rakeb syndrome, 606693