PLD3:Ensemblv90

phospholipase D family member 3
OMIM: 615698, ClinGen, DECIPHER

6 panels

Panel Reviews Mode of inheritance Details
6 panels

Amber PLD3 in Mendeliome


Version 1.3802

1 review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Amber
  • Expert list
Phenotypes
  • Spinocerebellar ataxia 46 MIM#617770

Amber PLD3 in Ataxia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 1.62

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Amber
    • Royal Melbourne Hospital
    • GeneReviews
    Phenotypes
    • ?Spinocerebellar ataxia 46

    Amber PLD3 in Ataxia


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.162

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • GeneReviews
    • Royal Melbourne Hospital
    • Expert Review Amber
    • Expert Review Amber
    • Royal Melbourne Hospital
    • GeneReviews
    Phenotypes
    • ?Spinocerebellar ataxia 46

    Amber PLD3 in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.153

    Component of the following Super Panels:

  • Leukodystrophy_Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Leukodystrophy

    Amber PLD3 in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 2.0

    1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • GeneReviews
    • Royal Melbourne Hospital
    • Expert Review Amber
    Phenotypes
    • ?Spinocerebellar ataxia 46

    Amber PLD3 in Leukodystrophy - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.0

    1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Literature
    • Expert Review Amber
    Phenotypes
    • Leukodystrophy