VPS13D

vacuolar protein sorting 13 homolog D
OMIM: 608877, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green VPS13D in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.405

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317

Green VPS13D in Mendeliome


Version 1.3795

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317

Green VPS13D in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 1.158

Component of the following Super Panels:

  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317

    Green VPS13D in Dystonia - complex


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.290

    Component of the following Super Panels:

  • Dystonia_Superpanel
  • Progressive Neurological Conditions
  • Tremors_Superpanel
  • 1 review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spinocerebellar ataxia, autosomal recessive 4, MIM# 607317