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 2.0

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

Green VPS13D in Mitochondrial disease


Level 2: Metabolic disorders
Version 1.0

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

Green VPS13D in Ataxia - adult onset


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia, autosomal recessive 4, 607317

Green VPS13D in Dystonia - complex


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

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