1. Genes and Genomic Entities
  2. ATP13A2

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 1.47

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 1.128

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 1.152

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Emory Genetics Laboratory
Phenotypes
  • Dystonia
  • Parkinson disease
  • Kufor-Rakeb syndrome
Green ATP13A2 in Lysosomal storage disorder


Level 2: Metabolic
Version 3.5
Latest signed off version: v3.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Spastic paraplegia 78, autosomal recessive OMIM:617225
  • autosomal recessive spastic paraplegia type 78 MONDO:0014975
Green ATP13A2 in Neuronal ceroid lipofuscinosis


Level 2: Metabolic
Version 3.2
Latest signed off version: v3.0 (30 Apr 2025)

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 1.40

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 1.316

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 Childhood onset hereditary spastic paraplegia


Level 2: Neurology
Version 8.30
Latest signed off version: v8.0 (30 Apr 2025)

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 Adult onset hereditary spastic paraplegia


Level 2: Neurology
Version 6.7
Latest signed off version: v6.0 (30 Apr 2025)

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 Adult onset neurodegenerative disorder


Level 2: Neurology
Version 8.11
Latest signed off version: v8.0 (30 Apr 2025)

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 1.642

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Kufor-Rakeb syndrome 606693
  • Spastic paraplegia 78, autosomal recessive 617225
Green ATP13A2 in Likely inborn error of metabolism


Level 2: Metabolic
Version 8.91
Latest signed off version: v8.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • Unexplained death in infancy and sudden unexplained death in childhood

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • London North GLH
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Kufor-Rakeb syndrome
    Red ATP13A2 in Fetal anomalies


    Level 2: Fetal (including NIPD)
    Version 6.140
    Latest signed off version: v6.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • PARKINSON DISEASE 9
    Green ATP13A2 in DDG2P


    Version 6.424
    Latest signed off version: v6.0 (30 Apr 2025)

    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 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    Phenotypes
    • PARKINSON DISEASE 9
    Red ATP13A2 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.86
    Latest signed off version: v8.0 (30 Apr 2025)

    		review Not set
    Sources
    • NHS GMS
    • Expert Review Red
    Phenotypes
    • Eye Disorders
    Red ATP13A2 in Structural eye disease


    Level 2: Ophthalmology
    Version 4.37
    Latest signed off version: v4.0 (7 Aug 2024)

    		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 dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 5.3
    Latest signed off version: v5.0 (30 Apr 2025)

    		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 Hereditary neuropathy or pain disorder


    Level 2: Neurology
    Version 7.36
    Latest signed off version: v7.0 (30 Apr 2025)

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Spastic paraplegia 78, autosomal recessive, OMIM:617225
    • Kufor-Rakeb syndrome, OMIM:606693
    • Kufor-Rakeb syndrome, MONDO:0011706
    • autosomal recessive spastic paraplegia type 78, MONDO:0014975
    Green ATP13A2 in Childhood onset dystonia, chorea or related movement disorder


    Level 2: Neurology
    Version 7.13
    Latest signed off version: v7.0 (30 Apr 2025)

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