VAC14

VAC14 component of PIKFYVE complex
OMIM: 604632, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green VAC14 in Early-onset Parkinson disease


Level 2: Neurology and neurodevelopmental disorders
Version 3.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Striatonigral degeneration, childhood-onset, MIM# 617054
  • Dystonia
  • Parkinsonism

Green VAC14 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Striatonigral degeneration, childhood-onset, MIM#617054

Green VAC14 in Dystonia - complex


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
Phenotypes
  • Striatonigral degeneration, childhood-onset 617054

No list VAC14 in Mackenzie's Mission_Reproductive Carrier Screening


Level 2: Screening
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review
Phenotypes
  • Striatonigral degeneration, childhood-onset, MIM#617054