PLA2G6

phospholipase A2 group VI
OMIM: 603604, Gene2Phenotype

17 panels

Panel Reviews Mode of inheritance Details
17 panels

Green PLA2G6 in Early-onset Dementia


Level 2: Neurology and neurodevelopmental disorders
Version 1.24

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • Parkinson disease 14, autosomal recessive, MIM# 612953

    Green PLA2G6 in Early-onset Parkinson disease


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.3

    Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Melbourne Genomics Health Alliance Complex Neurology Flagship
    • Victorian Clinical Genetics Services
    Phenotypes
    • autosomal recessive Parkinson disease 14 MONDO:0013060

    Green PLA2G6 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.356

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • Neurodegeneration with brain iron accumulation 2B MIM#610217

    Green PLA2G6 in Incidentalome


    Version 0.301

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PLA2G6 in Genetic Epilepsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.33

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Neurodegeneration with brain iron accumulation 2B MIM#610217

    Green PLA2G6 in Mitochondrial disease


    Level 2: Metabolic disorders
    Version 0.927

    Component of the following Super Panels:

  • Metabolic Disorders Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    Phenotypes
    • Infantile neuroaxonal dystrophy 1 MIM#256600
    • Neurodegeneration with brain iron accumulation 2B MIM#610217
    • Parkinson disease 14, autosomal recessive MIM#612953

    Green PLA2G6 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green PLA2G6 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    review Unknown
    Sources
    • Genetic Health Queensland
    • Expert Review Green

    Green PLA2G6 in Ataxia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.26

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    • Royal Melbourne Hospital
    Phenotypes
    • Autosomal recessive Parkinson disease 14, 612953
    • Parkinson disease 14 (#612953)
    • Infantile neuroaxonal dystrophy 1 (#256600)
    • Infantile neuroaxonal dystrophy 1, 256600
    • Neurodegeneration with brain iron accumulation 2B (#610217)
    • Neurodegeneration with brain iron accumulation 2B, 610217

    Green PLA2G6 in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.235

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Parkinson disease 14, autosomal recessive 612953
    • PLA2G6-associated neurodegeneration
    • Neurodegeneration with brain iron accumulation 2B 610217
    • Infantile neuroaxonal dystrophy 1 256600

    Green PLA2G6 in Hereditary Neuropathy - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.14

    Component of the following Super Panels:

  • Hereditary Neuropathy_CMT_IsolatedAndComplex
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    Phenotypes
    • Infantile neuroaxonal dystrophy 1 (MIM#256600)
    • Neurodegeneration with brain iron accumulation 2B (MIM#610217)

    Green PLA2G6 in Mackenzie's Mission_Reproductive Carrier Screening


    Level 2: Screening
    Version 0.109

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Neurodegeneration with brain iron accumulation 2B, 610217 (3)

    Green PLA2G6 in Additional findings_Paediatric


    Level 2: Screening
    Version 0.278

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • BabySeq Category A gene
    • Expert Review Green
    Phenotypes
    • Infantile neuroaxonal dystrophy 1

    Green PLA2G6 in Neurodegeneration with brain iron accumulation


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.35

    Component of the following Super Panels:

  • Progressive Neurological Conditions
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • GeneReviews
    • Expert Review Green
    Phenotypes
    • PLA2G6-associated neurodegeneration (PLAN)

    Green PLA2G6 in Prepair 1000+


    Level 2: Screening
    Version 1.9

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Neurodegeneration with brain iron accumulation 2B MIM#610217
    • Infantile neuroaxonal dystrophy 1 MIM#256600

    Red PLA2G6 in BabyScreen+ newborn screening


    Level 2: Screening
    Version 1.113

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • BabySeq Category A gene
    Phenotypes
    • Infantile neuroaxonal dystrophy 1 MIM#256600
    • Neurodegeneration with brain iron accumulation 2B MIM#610217
    • Parkinson disease 14, autosomal recessive MIM#612953

    Green PLA2G6 in Prepair 500+


    Level 2: Screening
    Version 1.1

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Mackenzie's Mission
    Phenotypes
    • Neurodegeneration with brain iron accumulation 2B MIM#610217
    • Infantile neuroaxonal dystrophy 1 MIM#256600